Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53238172G>ACA16621443IQSEC2c.3409C>T (p.Gln1137Ter)
c.1202C>T
c.711C>T
c.540C>T
c.115C>T (p.Gln39Ter)
c.313C>T (p.Gln105Ter)
n.280C>T
n.285C>T
c.3250C>T (p.Gln1084Ter)
c.3220C>T (p.Gln1074Ter)
c.2635C>T (p.Gln879Ter)
c.3346C>T (p.Gln1116Ter)
c.2572C>T (p.Gln858Ter)
c.2539C>T (p.Gln847Ter)
n.3573C>T
c.2752C>T (p.Gln918Ter)
n.3567C>T
 ClinVar dbSNP
Xg.53238172G>CCA413146270IQSEC2c.3409C>G (p.Gln1137Glu)
c.1202C>G
c.711C>G
c.540C>G
c.115C>G (p.Gln39Glu)
c.313C>G (p.Gln105Glu)
n.280C>G
n.285C>G
c.3250C>G (p.Gln1084Glu)
c.3220C>G (p.Gln1074Glu)
c.2635C>G (p.Gln879Glu)
c.3346C>G (p.Gln1116Glu)
c.2572C>G (p.Gln858Glu)
c.2539C>G (p.Gln847Glu)
n.3573C>G
c.2752C>G (p.Gln918Glu)
n.3567C>G
Xg.53238172G=CA2429771694IQSEC2c.3409C= (p.Gln1137=)
c.1202C=
c.711C=
c.540C=
c.115C= (p.Gln39=)
c.313C= (p.Gln105=)
n.280C=
n.285C=
c.3250C= (p.Gln1084=)
c.3220C= (p.Gln1074=)
c.2635C= (p.Gln879=)
c.3346C= (p.Gln1116=)
c.2572C= (p.Gln858=)
c.2539C= (p.Gln847=)
n.3573C=
c.2752C= (p.Gln918=)
n.3567C=
Xg.53238172G>TCA413146267IQSEC2c.3409C>A (p.Gln1137Lys)
c.1202C>A
c.711C>A
c.540C>A
c.115C>A (p.Gln39Lys)
c.313C>A (p.Gln105Lys)
n.280C>A
n.285C>A
c.3250C>A (p.Gln1084Lys)
c.3220C>A (p.Gln1074Lys)
c.2635C>A (p.Gln879Lys)
c.3346C>A (p.Gln1116Lys)
c.2572C>A (p.Gln858Lys)
c.2539C>A (p.Gln847Lys)
n.3573C>A
c.2752C>A (p.Gln918Lys)
n.3567C>A
Xg.53238173C>ACA516420764IQSEC2c.3408G>T (p.Val1136=)
c.1201G>T
c.710G>T
c.539G>T
c.114G>T (p.Val38=)
c.312G>T (p.Val104=)
n.279G>T
n.284G>T
c.3249G>T (p.Val1083=)
c.3219G>T (p.Val1073=)
c.2634G>T (p.Val878=)
c.3345G>T (p.Val1115=)
c.2571G>T (p.Val857=)
c.2538G>T (p.Val846=)
n.3572G>T
c.2751G>T (p.Val917=)
n.3566G>T
 gnomAD v4
Xg.53238173C=CA2429771695IQSEC2c.3408G= (p.Val1136=)
c.1201G=
c.710G=
c.539G=
c.114G= (p.Val38=)
c.312G= (p.Val104=)
n.279G=
n.284G=
c.3249G= (p.Val1083=)
c.3219G= (p.Val1073=)
c.2634G= (p.Val878=)
c.3345G= (p.Val1115=)
c.2571G= (p.Val857=)
c.2538G= (p.Val846=)
n.3572G=
c.2751G= (p.Val917=)
n.3566G=
Xg.53238173C>GCA516420756IQSEC2c.3408G>C (p.Val1136=)
c.1201G>C
c.710G>C
c.539G>C
c.114G>C (p.Val38=)
c.312G>C (p.Val104=)
n.279G>C
n.284G>C
c.3249G>C (p.Val1083=)
c.3219G>C (p.Val1073=)
c.2634G>C (p.Val878=)
c.3345G>C (p.Val1115=)
c.2571G>C (p.Val857=)
c.2538G>C (p.Val846=)
n.3572G>C
c.2751G>C (p.Val917=)
n.3566G>C
Xg.53238173C>TCA10419830IQSEC2c.3408G>A (p.Val1136=)
c.1201G>A
c.710G>A
c.539G>A
c.114G>A (p.Val38=)
c.312G>A (p.Val104=)
n.279G>A
n.284G>A
c.3249G>A (p.Val1083=)
c.3219G>A (p.Val1073=)
c.2634G>A (p.Val878=)
c.3345G>A (p.Val1115=)
c.2571G>A (p.Val857=)
c.2538G>A (p.Val846=)
n.3572G>A
c.2751G>A (p.Val917=)
n.3566G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238173dupCA658794223IQSEC2c.3408dup (p.Gln1137AlafsTer22)
c.1201dup
c.710dup
c.539dup
c.114dup (p.Gln39AlafsTer22)
c.312dup (p.Gln105AlafsTer22)
n.279dup
n.284dup
c.3249dup (p.Gln1084AlafsTer22)
c.3219dup (p.Gln1074AlafsTer22)
c.2634dup (p.Gln879AlafsTer22)
c.3345dup (p.Gln1116AlafsTer22)
c.2571dup (p.Gln858AlafsTer22)
c.2538dup (p.Gln847AlafsTer22)
c.3345dup (p.Gln1116AlafsTer21)
c.3345dup (p.Gln1116AlafsTer18)
n.3572dup
c.2751dup (p.Gln918AlafsTer22)
n.3566dup
Xg.53238174A>CCA413146280IQSEC2c.3407T>G (p.Val1136Gly)
c.1200T>G
c.709T>G
c.538T>G
c.113T>G (p.Val38Gly)
c.311T>G (p.Val104Gly)
n.278T>G
n.283T>G
c.3248T>G (p.Val1083Gly)
c.3218T>G (p.Val1073Gly)
c.2633T>G (p.Val878Gly)
c.3344T>G (p.Val1115Gly)
c.2570T>G (p.Val857Gly)
c.2537T>G (p.Val846Gly)
n.3571T>G
c.2750T>G (p.Val917Gly)
n.3565T>G
Xg.53238174A>GCA413146283IQSEC2c.3407T>C (p.Val1136Ala)
c.1200T>C
c.709T>C
c.538T>C
c.113T>C (p.Val38Ala)
c.311T>C (p.Val104Ala)
n.278T>C
n.283T>C
c.3248T>C (p.Val1083Ala)
c.3218T>C (p.Val1073Ala)
c.2633T>C (p.Val878Ala)
c.3344T>C (p.Val1115Ala)
c.2570T>C (p.Val857Ala)
c.2537T>C (p.Val846Ala)
n.3571T>C
c.2750T>C (p.Val917Ala)
n.3565T>C
Xg.53238174A>TCA413146287IQSEC2c.3407T>A (p.Val1136Glu)
c.1200T>A
c.709T>A
c.538T>A
c.113T>A (p.Val38Glu)
c.311T>A (p.Val104Glu)
n.278T>A
n.283T>A
c.3248T>A (p.Val1083Glu)
c.3218T>A (p.Val1073Glu)
c.2633T>A (p.Val878Glu)
c.3344T>A (p.Val1115Glu)
c.2570T>A (p.Val857Glu)
c.2537T>A (p.Val846Glu)
n.3571T>A
c.2750T>A (p.Val917Glu)
n.3565T>A
Xg.53238175C>ACA413146293IQSEC2c.3406G>T (p.Val1136Leu)
c.1199G>T
c.708G>T
c.537G>T
c.112G>T (p.Val38Leu)
c.310G>T (p.Val104Leu)
n.277G>T
n.282G>T
c.3247G>T (p.Val1083Leu)
c.3217G>T (p.Val1073Leu)
c.2632G>T (p.Val878Leu)
c.3343G>T (p.Val1115Leu)
c.2569G>T (p.Val857Leu)
c.2536G>T (p.Val846Leu)
n.3570G>T
c.2749G>T (p.Val917Leu)
n.3564G>T
Xg.53238175C>GCA413146297IQSEC2c.3406G>C (p.Val1136Leu)
c.1199G>C
c.708G>C
c.537G>C
c.112G>C (p.Val38Leu)
c.310G>C (p.Val104Leu)
n.277G>C
n.282G>C
c.3247G>C (p.Val1083Leu)
c.3217G>C (p.Val1073Leu)
c.2632G>C (p.Val878Leu)
c.3343G>C (p.Val1115Leu)
c.2569G>C (p.Val857Leu)
c.2536G>C (p.Val846Leu)
n.3570G>C
c.2749G>C (p.Val917Leu)
n.3564G>C
Xg.53238175C>TCA413146295IQSEC2c.3406G>A (p.Val1136Met)
c.1199G>A
c.708G>A
c.537G>A
c.112G>A (p.Val38Met)
c.310G>A (p.Val104Met)
n.277G>A
n.282G>A
c.3247G>A (p.Val1083Met)
c.3217G>A (p.Val1073Met)
c.2632G>A (p.Val878Met)
c.3343G>A (p.Val1115Met)
c.2569G>A (p.Val857Met)
c.2536G>A (p.Val846Met)
n.3570G>A
c.2749G>A (p.Val917Met)
n.3564G>A
Xg.53238176C>ACA413146299IQSEC2c.3405G>T (p.Glu1135Asp)
c.1198G>T
c.707G>T
c.536G>T
c.111G>T (p.Glu37Asp)
c.309G>T (p.Glu103Asp)
n.276G>T
n.281G>T
c.3246G>T (p.Glu1082Asp)
c.3216G>T (p.Glu1072Asp)
c.2631G>T (p.Glu877Asp)
c.3342G>T (p.Glu1114Asp)
c.2568G>T (p.Glu856Asp)
c.2535G>T (p.Glu845Asp)
n.3569G>T
c.2748G>T (p.Glu916Asp)
n.3563G>T
Xg.53238176C>GCA413146303IQSEC2c.3405G>C (p.Glu1135Asp)
c.1198G>C
c.707G>C
c.536G>C
c.111G>C (p.Glu37Asp)
c.309G>C (p.Glu103Asp)
n.276G>C
n.281G>C
c.3246G>C (p.Glu1082Asp)
c.3216G>C (p.Glu1072Asp)
c.2631G>C (p.Glu877Asp)
c.3342G>C (p.Glu1114Asp)
c.2568G>C (p.Glu856Asp)
c.2535G>C (p.Glu845Asp)
n.3569G>C
c.2748G>C (p.Glu916Asp)
n.3563G>C
Xg.53238176C>TCA516420799IQSEC2c.3405G>A (p.Glu1135=)
c.1198G>A
c.707G>A
c.536G>A
c.111G>A (p.Glu37=)
c.309G>A (p.Glu103=)
n.276G>A
n.281G>A
c.3246G>A (p.Glu1082=)
c.3216G>A (p.Glu1072=)
c.2631G>A (p.Glu877=)
c.3342G>A (p.Glu1114=)
c.2568G>A (p.Glu856=)
c.2535G>A (p.Glu845=)
n.3569G>A
c.2748G>A (p.Glu916=)
n.3563G>A
Xg.53238177T>ACA413146307IQSEC2c.3404A>T (p.Glu1135Val)
c.1197A>T
c.706A>T
c.535A>T
c.110A>T (p.Glu37Val)
c.308A>T (p.Glu103Val)
n.275A>T
n.280A>T
c.3245A>T (p.Glu1082Val)
c.3215A>T (p.Glu1072Val)
c.2630A>T (p.Glu877Val)
c.3341A>T (p.Glu1114Val)
c.2567A>T (p.Glu856Val)
c.2534A>T (p.Glu845Val)
n.3568A>T
c.2747A>T (p.Glu916Val)
n.3562A>T
 gnomAD v4
Xg.53238177T>CCA413146310IQSEC2c.3404A>G (p.Glu1135Gly)
c.1197A>G
c.706A>G
c.535A>G
c.110A>G (p.Glu37Gly)
c.308A>G (p.Glu103Gly)
n.275A>G
n.280A>G
c.3245A>G (p.Glu1082Gly)
c.3215A>G (p.Glu1072Gly)
c.2630A>G (p.Glu877Gly)
c.3341A>G (p.Glu1114Gly)
c.2567A>G (p.Glu856Gly)
c.2534A>G (p.Glu845Gly)
n.3568A>G
c.2747A>G (p.Glu916Gly)
n.3562A>G
Xg.53238177T>GCA413146313IQSEC2c.3404A>C (p.Glu1135Ala)
c.1197A>C
c.706A>C
c.535A>C
c.110A>C (p.Glu37Ala)
c.308A>C (p.Glu103Ala)
n.275A>C
n.280A>C
c.3245A>C (p.Glu1082Ala)
c.3215A>C (p.Glu1072Ala)
c.2630A>C (p.Glu877Ala)
c.3341A>C (p.Glu1114Ala)
c.2567A>C (p.Glu856Ala)
c.2534A>C (p.Glu845Ala)
n.3568A>C
c.2747A>C (p.Glu916Ala)
n.3562A>C
Xg.53238178C>ACA413146317IQSEC2c.3403G>T (p.Glu1135Ter)
c.1196G>T
c.705G>T
c.534G>T
c.109G>T (p.Glu37Ter)
c.307G>T (p.Glu103Ter)
n.274G>T
n.279G>T
c.3244G>T (p.Glu1082Ter)
c.3214G>T (p.Glu1072Ter)
c.2629G>T (p.Glu877Ter)
c.3340G>T (p.Glu1114Ter)
c.2566G>T (p.Glu856Ter)
c.2533G>T (p.Glu845Ter)
n.3567G>T
c.2746G>T (p.Glu916Ter)
n.3561G>T
Xg.53238178C>GCA413146320IQSEC2c.3403G>C (p.Glu1135Gln)
c.1196G>C
c.705G>C
c.534G>C
c.109G>C (p.Glu37Gln)
c.307G>C (p.Glu103Gln)
n.274G>C
n.279G>C
c.3244G>C (p.Glu1082Gln)
c.3214G>C (p.Glu1072Gln)
c.2629G>C (p.Glu877Gln)
c.3340G>C (p.Glu1114Gln)
c.2566G>C (p.Glu856Gln)
c.2533G>C (p.Glu845Gln)
n.3567G>C
c.2746G>C (p.Glu916Gln)
n.3561G>C
Xg.53238178C>TCA413146323IQSEC2c.3403G>A (p.Glu1135Lys)
c.1196G>A
c.705G>A
c.534G>A
c.109G>A (p.Glu37Lys)
c.307G>A (p.Glu103Lys)
n.274G>A
n.279G>A
c.3244G>A (p.Glu1082Lys)
c.3214G>A (p.Glu1072Lys)
c.2629G>A (p.Glu877Lys)
c.3340G>A (p.Glu1114Lys)
c.2566G>A (p.Glu856Lys)
c.2533G>A (p.Glu845Lys)
n.3567G>A
c.2746G>A (p.Glu916Lys)
n.3561G>A
Xg.53238179C>ACA516420820IQSEC2c.3402G>T (p.Ala1134=)
c.1195G>T
c.704G>T
c.533G>T
c.108G>T (p.Ala36=)
c.306G>T (p.Ala102=)
n.273G>T
n.278G>T
c.3243G>T (p.Ala1081=)
c.3213G>T (p.Ala1071=)
c.2628G>T (p.Ala876=)
c.3339G>T (p.Ala1113=)
c.2565G>T (p.Ala855=)
c.2532G>T (p.Ala844=)
n.3566G>T
c.2745G>T (p.Ala915=)
n.3560G>T
Xg.53238179C=CA2429771696IQSEC2c.3402G= (p.Ala1134=)
c.1195G=
c.704G=
c.533G=
c.108G= (p.Ala36=)
c.306G= (p.Ala102=)
n.273G=
n.278G=
c.3243G= (p.Ala1081=)
c.3213G= (p.Ala1071=)
c.2628G= (p.Ala876=)
c.3339G= (p.Ala1113=)
c.2565G= (p.Ala855=)
c.2532G= (p.Ala844=)
n.3566G=
c.2745G= (p.Ala915=)
n.3560G=
Xg.53238179C>GCA516420824IQSEC2c.3402G>C (p.Ala1134=)
c.1195G>C
c.704G>C
c.533G>C
c.108G>C (p.Ala36=)
c.306G>C (p.Ala102=)
n.273G>C
n.278G>C
c.3243G>C (p.Ala1081=)
c.3213G>C (p.Ala1071=)
c.2628G>C (p.Ala876=)
c.3339G>C (p.Ala1113=)
c.2565G>C (p.Ala855=)
c.2532G>C (p.Ala844=)
n.3566G>C
c.2745G>C (p.Ala915=)
n.3560G>C
Xg.53238179C>TCA10419831IQSEC2c.3402G>A (p.Ala1134=)
c.1195G>A
c.704G>A
c.533G>A
c.108G>A (p.Ala36=)
c.306G>A (p.Ala102=)
n.273G>A
n.278G>A
c.3243G>A (p.Ala1081=)
c.3213G>A (p.Ala1071=)
c.2628G>A (p.Ala876=)
c.3339G>A (p.Ala1113=)
c.2565G>A (p.Ala855=)
c.2532G>A (p.Ala844=)
n.3566G>A
c.2745G>A (p.Ala915=)
n.3560G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53238180G>ACA10419832IQSEC2c.3401C>T (p.Ala1134Val)
c.1194C>T
c.703C>T
c.532C>T
c.107C>T (p.Ala36Val)
c.305C>T (p.Ala102Val)
n.272C>T
n.277C>T
c.3242C>T (p.Ala1081Val)
c.3212C>T (p.Ala1071Val)
c.2627C>T (p.Ala876Val)
c.3338C>T (p.Ala1113Val)
c.2564C>T (p.Ala855Val)
c.2531C>T (p.Ala844Val)
n.3565C>T
c.2744C>T (p.Ala915Val)
n.3559C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238180G>CCA413146337IQSEC2c.3401C>G (p.Ala1134Gly)
c.1194C>G
c.703C>G
c.532C>G
c.107C>G (p.Ala36Gly)
c.305C>G (p.Ala102Gly)
n.272C>G
n.277C>G
c.3242C>G (p.Ala1081Gly)
c.3212C>G (p.Ala1071Gly)
c.2627C>G (p.Ala876Gly)
c.3338C>G (p.Ala1113Gly)
c.2564C>G (p.Ala855Gly)
c.2531C>G (p.Ala844Gly)
n.3565C>G
c.2744C>G (p.Ala915Gly)
n.3559C>G
Xg.53238180G=CA2429771697IQSEC2c.3401C= (p.Ala1134=)
c.1194C=
c.703C=
c.532C=
c.107C= (p.Ala36=)
c.305C= (p.Ala102=)
n.272C=
n.277C=
c.3242C= (p.Ala1081=)
c.3212C= (p.Ala1071=)
c.2627C= (p.Ala876=)
c.3338C= (p.Ala1113=)
c.2564C= (p.Ala855=)
c.2531C= (p.Ala844=)
n.3565C=
c.2744C= (p.Ala915=)
n.3559C=
Xg.53238180G>TCA413146340IQSEC2c.3401C>A (p.Ala1134Glu)
c.1194C>A
c.703C>A
c.532C>A
c.107C>A (p.Ala36Glu)
c.305C>A (p.Ala102Glu)
n.272C>A
n.277C>A
c.3242C>A (p.Ala1081Glu)
c.3212C>A (p.Ala1071Glu)
c.2627C>A (p.Ala876Glu)
c.3338C>A (p.Ala1113Glu)
c.2564C>A (p.Ala855Glu)
c.2531C>A (p.Ala844Glu)
n.3565C>A
c.2744C>A (p.Ala915Glu)
n.3559C>A
 gnomAD v4
Xg.53238181C>ACA413146347IQSEC2c.3400G>T (p.Ala1134Ser)
c.1193G>T
c.702G>T
c.531G>T
c.106G>T (p.Ala36Ser)
c.304G>T (p.Ala102Ser)
n.271G>T
n.276G>T
c.3241G>T (p.Ala1081Ser)
c.3211G>T (p.Ala1071Ser)
c.2626G>T (p.Ala876Ser)
c.3337G>T (p.Ala1113Ser)
c.2563G>T (p.Ala855Ser)
c.2530G>T (p.Ala844Ser)
n.3564G>T
c.2743G>T (p.Ala915Ser)
n.3558G>T
Xg.53238181C=CA2429771698IQSEC2c.3400G= (p.Ala1134=)
c.1193G=
c.702G=
c.531G=
c.106G= (p.Ala36=)
c.304G= (p.Ala102=)
n.271G=
n.276G=
c.3241G= (p.Ala1081=)
c.3211G= (p.Ala1071=)
c.2626G= (p.Ala876=)
c.3337G= (p.Ala1113=)
c.2563G= (p.Ala855=)
c.2530G= (p.Ala844=)
n.3564G=
c.2743G= (p.Ala915=)
n.3558G=
Xg.53238181C>GCA413146344IQSEC2c.3400G>C (p.Ala1134Pro)
c.1193G>C
c.702G>C
c.531G>C
c.106G>C (p.Ala36Pro)
c.304G>C (p.Ala102Pro)
n.271G>C
n.276G>C
c.3241G>C (p.Ala1081Pro)
c.3211G>C (p.Ala1071Pro)
c.2626G>C (p.Ala876Pro)
c.3337G>C (p.Ala1113Pro)
c.2563G>C (p.Ala855Pro)
c.2530G>C (p.Ala844Pro)
n.3564G>C
c.2743G>C (p.Ala915Pro)
n.3558G>C
Xg.53238181C>TCA413146345IQSEC2c.3400G>A (p.Ala1134Thr)
c.1193G>A
c.702G>A
c.531G>A
c.106G>A (p.Ala36Thr)
c.304G>A (p.Ala102Thr)
n.271G>A
n.276G>A
c.3241G>A (p.Ala1081Thr)
c.3211G>A (p.Ala1071Thr)
c.2626G>A (p.Ala876Thr)
c.3337G>A (p.Ala1113Thr)
c.2563G>A (p.Ala855Thr)
c.2530G>A (p.Ala844Thr)
n.3564G>A
c.2743G>A (p.Ala915Thr)
n.3558G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53238182A>CCA413146352IQSEC2c.3399T>G (p.Ile1133Met)
c.1192T>G
c.701T>G
c.530T>G
c.105T>G (p.Ile35Met)
c.303T>G (p.Ile101Met)
n.270T>G
n.275T>G
c.3240T>G (p.Ile1080Met)
c.3210T>G (p.Ile1070Met)
c.2625T>G (p.Ile875Met)
c.3336T>G (p.Ile1112Met)
c.2562T>G (p.Ile854Met)
c.2529T>G (p.Ile843Met)
n.3563T>G
c.2742T>G (p.Ile914Met)
n.3557T>G
Xg.53238182A>GCA516420854IQSEC2c.3399T>C (p.Ile1133=)
c.1192T>C
c.701T>C
c.530T>C
c.105T>C (p.Ile35=)
c.303T>C (p.Ile101=)
n.270T>C
n.275T>C
c.3240T>C (p.Ile1080=)
c.3210T>C (p.Ile1070=)
c.2625T>C (p.Ile875=)
c.3336T>C (p.Ile1112=)
c.2562T>C (p.Ile854=)
c.2529T>C (p.Ile843=)
n.3563T>C
c.2742T>C (p.Ile914=)
n.3557T>C
Xg.53238182A>TCA516420858IQSEC2c.3399T>A (p.Ile1133=)
c.1192T>A
c.701T>A
c.530T>A
c.105T>A (p.Ile35=)
c.303T>A (p.Ile101=)
n.270T>A
n.275T>A
c.3240T>A (p.Ile1080=)
c.3210T>A (p.Ile1070=)
c.2625T>A (p.Ile875=)
c.3336T>A (p.Ile1112=)
c.2562T>A (p.Ile854=)
c.2529T>A (p.Ile843=)
n.3563T>A
c.2742T>A (p.Ile914=)
n.3557T>A
Xg.53238183A>CCA413146356IQSEC2c.3398T>G (p.Ile1133Ser)
c.1191T>G
c.700T>G
c.529T>G
c.104T>G (p.Ile35Ser)
c.302T>G (p.Ile101Ser)
n.269T>G
n.274T>G
c.3239T>G (p.Ile1080Ser)
c.3209T>G (p.Ile1070Ser)
c.2624T>G (p.Ile875Ser)
c.3335T>G (p.Ile1112Ser)
c.2561T>G (p.Ile854Ser)
c.2528T>G (p.Ile843Ser)
n.3562T>G
c.2741T>G (p.Ile914Ser)
n.3556T>G
Xg.53238183A>GCA413146359IQSEC2c.3398T>C (p.Ile1133Thr)
c.1191T>C
c.700T>C
c.529T>C
c.104T>C (p.Ile35Thr)
c.302T>C (p.Ile101Thr)
n.269T>C
n.274T>C
c.3239T>C (p.Ile1080Thr)
c.3209T>C (p.Ile1070Thr)
c.2624T>C (p.Ile875Thr)
c.3335T>C (p.Ile1112Thr)
c.2561T>C (p.Ile854Thr)
c.2528T>C (p.Ile843Thr)
n.3562T>C
c.2741T>C (p.Ile914Thr)
n.3556T>C
Xg.53238183A>TCA413146362IQSEC2c.3398T>A (p.Ile1133Asn)
c.1191T>A
c.700T>A
c.529T>A
c.104T>A (p.Ile35Asn)
c.302T>A (p.Ile101Asn)
n.269T>A
n.274T>A
c.3239T>A (p.Ile1080Asn)
c.3209T>A (p.Ile1070Asn)
c.2624T>A (p.Ile875Asn)
c.3335T>A (p.Ile1112Asn)
c.2561T>A (p.Ile854Asn)
c.2528T>A (p.Ile843Asn)
n.3562T>A
c.2741T>A (p.Ile914Asn)
n.3556T>A
Xg.53238184T>ACA413146366IQSEC2c.3397A>T (p.Ile1133Phe)
c.1190A>T
c.699A>T
c.528A>T
c.103A>T (p.Ile35Phe)
c.301A>T (p.Ile101Phe)
n.268A>T
n.273A>T
c.3238A>T (p.Ile1080Phe)
c.3208A>T (p.Ile1070Phe)
c.2623A>T (p.Ile875Phe)
c.3334A>T (p.Ile1112Phe)
c.2560A>T (p.Ile854Phe)
c.2527A>T (p.Ile843Phe)
n.3561A>T
c.2740A>T (p.Ile914Phe)
n.3555A>T
Xg.53238184T>CCA413146370IQSEC2c.3397A>G (p.Ile1133Val)
c.1190A>G
c.699A>G
c.528A>G
c.103A>G (p.Ile35Val)
c.301A>G (p.Ile101Val)
n.268A>G
n.273A>G
c.3238A>G (p.Ile1080Val)
c.3208A>G (p.Ile1070Val)
c.2623A>G (p.Ile875Val)
c.3334A>G (p.Ile1112Val)
c.2560A>G (p.Ile854Val)
c.2527A>G (p.Ile843Val)
n.3561A>G
c.2740A>G (p.Ile914Val)
n.3555A>G
 dbSNP
Xg.53238184T>GCA413146373IQSEC2c.3397A>C (p.Ile1133Leu)
c.1190A>C
c.699A>C
c.528A>C
c.103A>C (p.Ile35Leu)
c.301A>C (p.Ile101Leu)
n.268A>C
n.273A>C
c.3238A>C (p.Ile1080Leu)
c.3208A>C (p.Ile1070Leu)
c.2623A>C (p.Ile875Leu)
c.3334A>C (p.Ile1112Leu)
c.2560A>C (p.Ile854Leu)
c.2527A>C (p.Ile843Leu)
n.3561A>C
c.2740A>C (p.Ile914Leu)
n.3555A>C
Xg.53238184T=CA2429771699IQSEC2c.3397A= (p.Ile1133=)
c.1190A=
c.699A=
c.528A=
c.103A= (p.Ile35=)
c.301A= (p.Ile101=)
n.268A=
n.273A=
c.3238A= (p.Ile1080=)
c.3208A= (p.Ile1070=)
c.2623A= (p.Ile875=)
c.3334A= (p.Ile1112=)
c.2560A= (p.Ile854=)
c.2527A= (p.Ile843=)
n.3561A=
c.2740A= (p.Ile914=)
n.3555A=
Xg.53238185G>ACA516420880IQSEC2c.3396C>T (p.Ser1132=)
c.1189C>T
c.698C>T
c.527C>T
c.102C>T (p.Ser34=)
c.300C>T (p.Ser100=)
n.267C>T
n.272C>T
c.3237C>T (p.Ser1079=)
c.3207C>T (p.Ser1069=)
c.2622C>T (p.Ser874=)
c.3333C>T (p.Ser1111=)
c.2559C>T (p.Ser853=)
c.2526C>T (p.Ser842=)
n.3560C>T
c.2739C>T (p.Ser913=)
n.3554C>T
Xg.53238185G>CCA516420882IQSEC2c.3396C>G (p.Ser1132=)
c.1189C>G
c.698C>G
c.527C>G
c.102C>G (p.Ser34=)
c.300C>G (p.Ser100=)
n.267C>G
n.272C>G
c.3237C>G (p.Ser1079=)
c.3207C>G (p.Ser1069=)
c.2622C>G (p.Ser874=)
c.3333C>G (p.Ser1111=)
c.2559C>G (p.Ser853=)
c.2526C>G (p.Ser842=)
n.3560C>G
c.2739C>G (p.Ser913=)
n.3554C>G
Xg.53238185G>TCA516420888IQSEC2c.3396C>A (p.Ser1132=)
c.1189C>A
c.698C>A
c.527C>A
c.102C>A (p.Ser34=)
c.300C>A (p.Ser100=)
n.267C>A
n.272C>A
c.3237C>A (p.Ser1079=)
c.3207C>A (p.Ser1069=)
c.2622C>A (p.Ser874=)
c.3333C>A (p.Ser1111=)
c.2559C>A (p.Ser853=)
c.2526C>A (p.Ser842=)
n.3560C>A
c.2739C>A (p.Ser913=)
n.3554C>A
Xg.53238186delCA2499226782IQSEC2c.3396del (p.Ile1133LeufsTer22)
c.1189del
c.698del
c.527del
c.102del (p.Ile35LeufsTer22)
c.300del (p.Ile101LeufsTer22)
n.267del
n.272del
c.3237del (p.Ile1080LeufsTer22)
c.3207del (p.Ile1070LeufsTer22)
c.2622del (p.Ile875LeufsTer22)
c.3333del (p.Ile1112LeufsTer22)
c.2559del (p.Ile854LeufsTer22)
c.2526del (p.Ile843LeufsTer22)
c.3333del (p.Ile1112LeufsTer?)
n.3560del
c.2739del (p.Ile914LeufsTer22)
n.3554del
 ClinVar dbSNP
Xg.53238186G>ACA413146378IQSEC2c.3395C>T (p.Ser1132Phe)
c.1188C>T
c.697C>T
c.526C>T
c.101C>T (p.Ser34Phe)
c.299C>T (p.Ser100Phe)
n.266C>T
n.271C>T
c.3236C>T (p.Ser1079Phe)
c.3206C>T (p.Ser1069Phe)
c.2621C>T (p.Ser874Phe)
c.3332C>T (p.Ser1111Phe)
c.2558C>T (p.Ser853Phe)
c.2525C>T (p.Ser842Phe)
n.3559C>T
c.2738C>T (p.Ser913Phe)
n.3553C>T
 COSMIC COSMIC COSMIC
Xg.53238186G>CCA413146381IQSEC2c.3395C>G (p.Ser1132Cys)
c.1188C>G
c.697C>G
c.526C>G
c.101C>G (p.Ser34Cys)
c.299C>G (p.Ser100Cys)
n.266C>G
n.271C>G
c.3236C>G (p.Ser1079Cys)
c.3206C>G (p.Ser1069Cys)
c.2621C>G (p.Ser874Cys)
c.3332C>G (p.Ser1111Cys)
c.2558C>G (p.Ser853Cys)
c.2525C>G (p.Ser842Cys)
n.3559C>G
c.2738C>G (p.Ser913Cys)
n.3553C>G
Xg.53238186G>TCA413146384IQSEC2c.3395C>A (p.Ser1132Tyr)
c.1188C>A
c.697C>A
c.526C>A
c.101C>A (p.Ser34Tyr)
c.299C>A (p.Ser100Tyr)
n.266C>A
n.271C>A
c.3236C>A (p.Ser1079Tyr)
c.3206C>A (p.Ser1069Tyr)
c.2621C>A (p.Ser874Tyr)
c.3332C>A (p.Ser1111Tyr)
c.2558C>A (p.Ser853Tyr)
c.2525C>A (p.Ser842Tyr)
n.3559C>A
c.2738C>A (p.Ser913Tyr)
n.3553C>A
Xg.53238187A>CCA413146390IQSEC2c.3394T>G (p.Ser1132Ala)
c.1187T>G
c.696T>G
c.525T>G
c.100T>G (p.Ser34Ala)
c.298T>G (p.Ser100Ala)
n.265T>G
n.270T>G
c.3235T>G (p.Ser1079Ala)
c.3205T>G (p.Ser1069Ala)
c.2620T>G (p.Ser874Ala)
c.3331T>G (p.Ser1111Ala)
c.2557T>G (p.Ser853Ala)
c.2524T>G (p.Ser842Ala)
n.3558T>G
c.2737T>G (p.Ser913Ala)
n.3552T>G
Xg.53238187A>GCA413146392IQSEC2c.3394T>C (p.Ser1132Pro)
c.1187T>C
c.696T>C
c.525T>C
c.100T>C (p.Ser34Pro)
c.298T>C (p.Ser100Pro)
n.265T>C
n.270T>C
c.3235T>C (p.Ser1079Pro)
c.3205T>C (p.Ser1069Pro)
c.2620T>C (p.Ser874Pro)
c.3331T>C (p.Ser1111Pro)
c.2557T>C (p.Ser853Pro)
c.2524T>C (p.Ser842Pro)
n.3558T>C
c.2737T>C (p.Ser913Pro)
n.3552T>C
Xg.53238187A>TCA413146395IQSEC2c.3394T>A (p.Ser1132Thr)
c.1187T>A
c.696T>A
c.525T>A
c.100T>A (p.Ser34Thr)
c.298T>A (p.Ser100Thr)
n.265T>A
n.270T>A
c.3235T>A (p.Ser1079Thr)
c.3205T>A (p.Ser1069Thr)
c.2620T>A (p.Ser874Thr)
c.3331T>A (p.Ser1111Thr)
c.2557T>A (p.Ser853Thr)
c.2524T>A (p.Ser842Thr)
n.3558T>A
c.2737T>A (p.Ser913Thr)
n.3552T>A
Xg.53238188C>ACA413146403IQSEC2c.3393G>T (p.Glu1131Asp)
c.1186G>T
c.695G>T
c.524G>T
c.99G>T (p.Glu33Asp)
c.297G>T (p.Glu99Asp)
n.264G>T
n.269G>T
c.3234G>T (p.Glu1078Asp)
c.3204G>T (p.Glu1068Asp)
c.2619G>T (p.Glu873Asp)
c.3330G>T (p.Glu1110Asp)
c.2556G>T (p.Glu852Asp)
c.2523G>T (p.Glu841Asp)
n.3557G>T
c.2736G>T (p.Glu912Asp)
n.3551G>T
Xg.53238188C>GCA413146399IQSEC2c.3393G>C (p.Glu1131Asp)
c.1186G>C
c.695G>C
c.524G>C
c.99G>C (p.Glu33Asp)
c.297G>C (p.Glu99Asp)
n.264G>C
n.269G>C
c.3234G>C (p.Glu1078Asp)
c.3204G>C (p.Glu1068Asp)
c.2619G>C (p.Glu873Asp)
c.3330G>C (p.Glu1110Asp)
c.2556G>C (p.Glu852Asp)
c.2523G>C (p.Glu841Asp)
n.3557G>C
c.2736G>C (p.Glu912Asp)
n.3551G>C
Xg.53238188C>TCA516420911IQSEC2c.3393G>A (p.Glu1131=)
c.1186G>A
c.695G>A
c.524G>A
c.99G>A (p.Glu33=)
c.297G>A (p.Glu99=)
n.264G>A
n.269G>A
c.3234G>A (p.Glu1078=)
c.3204G>A (p.Glu1068=)
c.2619G>A (p.Glu873=)
c.3330G>A (p.Glu1110=)
c.2556G>A (p.Glu852=)
c.2523G>A (p.Glu841=)
n.3557G>A
c.2736G>A (p.Glu912=)
n.3551G>A
 gnomAD v4
Xg.53238189T>ACA413146408IQSEC2c.3392A>T (p.Glu1131Val)
c.1185A>T
c.694A>T
c.523A>T
c.98A>T (p.Glu33Val)
c.296A>T (p.Glu99Val)
n.263A>T
n.268A>T
c.3233A>T (p.Glu1078Val)
c.3203A>T (p.Glu1068Val)
c.2618A>T (p.Glu873Val)
c.3329A>T (p.Glu1110Val)
c.2555A>T (p.Glu852Val)
c.2522A>T (p.Glu841Val)
n.3556A>T
c.2735A>T (p.Glu912Val)
n.3550A>T
Xg.53238189T>CCA413146411IQSEC2c.3392A>G (p.Glu1131Gly)
c.1185A>G
c.694A>G
c.523A>G
c.98A>G (p.Glu33Gly)
c.296A>G (p.Glu99Gly)
n.263A>G
n.268A>G
c.3233A>G (p.Glu1078Gly)
c.3203A>G (p.Glu1068Gly)
c.2618A>G (p.Glu873Gly)
c.3329A>G (p.Glu1110Gly)
c.2555A>G (p.Glu852Gly)
c.2522A>G (p.Glu841Gly)
n.3556A>G
c.2735A>G (p.Glu912Gly)
n.3550A>G
Xg.53238189T>GCA413146412IQSEC2c.3392A>C (p.Glu1131Ala)
c.1185A>C
c.694A>C
c.523A>C
c.98A>C (p.Glu33Ala)
c.296A>C (p.Glu99Ala)
n.263A>C
n.268A>C
c.3233A>C (p.Glu1078Ala)
c.3203A>C (p.Glu1068Ala)
c.2618A>C (p.Glu873Ala)
c.3329A>C (p.Glu1110Ala)
c.2555A>C (p.Glu852Ala)
c.2522A>C (p.Glu841Ala)
n.3556A>C
c.2735A>C (p.Glu912Ala)
n.3550A>C
Xg.53238190C>ACA413146413IQSEC2c.3391G>T (p.Glu1131Ter)
c.1184G>T
c.693G>T
c.522G>T
c.97G>T (p.Glu33Ter)
c.295G>T (p.Glu99Ter)
n.262G>T
n.267G>T
c.3232G>T (p.Glu1078Ter)
c.3202G>T (p.Glu1068Ter)
c.2617G>T (p.Glu873Ter)
c.3328G>T (p.Glu1110Ter)
c.2554G>T (p.Glu852Ter)
c.2521G>T (p.Glu841Ter)
n.3555G>T
c.2734G>T (p.Glu912Ter)
n.3549G>T
Xg.53238190C>GCA413146415IQSEC2c.3391G>C (p.Glu1131Gln)
c.1184G>C
c.693G>C
c.522G>C
c.97G>C (p.Glu33Gln)
c.295G>C (p.Glu99Gln)
n.262G>C
n.267G>C
c.3232G>C (p.Glu1078Gln)
c.3202G>C (p.Glu1068Gln)
c.2617G>C (p.Glu873Gln)
c.3328G>C (p.Glu1110Gln)
c.2554G>C (p.Glu852Gln)
c.2521G>C (p.Glu841Gln)
n.3555G>C
c.2734G>C (p.Glu912Gln)
n.3549G>C
Xg.53238190C>TCA413146416IQSEC2c.3391G>A (p.Glu1131Lys)
c.1184G>A
c.693G>A
c.522G>A
c.97G>A (p.Glu33Lys)
c.295G>A (p.Glu99Lys)
n.262G>A
n.267G>A
c.3232G>A (p.Glu1078Lys)
c.3202G>A (p.Glu1068Lys)
c.2617G>A (p.Glu873Lys)
c.3328G>A (p.Glu1110Lys)
c.2554G>A (p.Glu852Lys)
c.2521G>A (p.Glu841Lys)
n.3555G>A
c.2734G>A (p.Glu912Lys)
n.3549G>A
 gnomAD v3 gnomAD v4
Xg.53238191G>ACA10419833IQSEC2c.3390C>T (p.Arg1130=)
c.1183C>T
c.692C>T
c.521C>T
c.96C>T (p.Arg32=)
c.294C>T (p.Arg98=)
n.261C>T
n.266C>T
c.3231C>T (p.Arg1077=)
c.3201C>T (p.Arg1067=)
c.2616C>T (p.Arg872=)
c.3327C>T (p.Arg1109=)
c.2553C>T (p.Arg851=)
c.2520C>T (p.Arg840=)
n.3554C>T
c.2733C>T (p.Arg911=)
n.3548C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238191G>CCA516420931IQSEC2c.3390C>G (p.Arg1130=)
c.1183C>G
c.692C>G
c.521C>G
c.96C>G (p.Arg32=)
c.294C>G (p.Arg98=)
n.261C>G
n.266C>G
c.3231C>G (p.Arg1077=)
c.3201C>G (p.Arg1067=)
c.2616C>G (p.Arg872=)
c.3327C>G (p.Arg1109=)
c.2553C>G (p.Arg851=)
c.2520C>G (p.Arg840=)
n.3554C>G
c.2733C>G (p.Arg911=)
n.3548C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53238191G=CA2429771700IQSEC2c.3390C= (p.Arg1130=)
c.1183C=
c.692C=
c.521C=
c.96C= (p.Arg32=)
c.294C= (p.Arg98=)
n.261C=
n.266C=
c.3231C= (p.Arg1077=)
c.3201C= (p.Arg1067=)
c.2616C= (p.Arg872=)
c.3327C= (p.Arg1109=)
c.2553C= (p.Arg851=)
c.2520C= (p.Arg840=)
n.3554C=
c.2733C= (p.Arg911=)
n.3548C=
Xg.53238191G>TCA516420933IQSEC2c.3390C>A (p.Arg1130=)
c.1183C>A
c.692C>A
c.521C>A
c.96C>A (p.Arg32=)
c.294C>A (p.Arg98=)
n.261C>A
n.266C>A
c.3231C>A (p.Arg1077=)
c.3201C>A (p.Arg1067=)
c.2616C>A (p.Arg872=)
c.3327C>A (p.Arg1109=)
c.2553C>A (p.Arg851=)
c.2520C>A (p.Arg840=)
n.3554C>A
c.2733C>A (p.Arg911=)
n.3548C>A
Xg.53238192C>ACA413146423IQSEC2c.3389G>T (p.Arg1130Leu)
c.1182G>T
c.691G>T
c.520G>T
c.95G>T (p.Arg32Leu)
c.293G>T (p.Arg98Leu)
n.260G>T
n.265G>T
c.3230G>T (p.Arg1077Leu)
c.3200G>T (p.Arg1067Leu)
c.2615G>T (p.Arg872Leu)
c.3326G>T (p.Arg1109Leu)
c.2552G>T (p.Arg851Leu)
c.2519G>T (p.Arg840Leu)
n.3553G>T
c.2732G>T (p.Arg911Leu)
n.3547G>T
Xg.53238192C>GCA413146425IQSEC2c.3389G>C (p.Arg1130Pro)
c.1182G>C
c.691G>C
c.520G>C
c.95G>C (p.Arg32Pro)
c.293G>C (p.Arg98Pro)
n.260G>C
n.265G>C
c.3230G>C (p.Arg1077Pro)
c.3200G>C (p.Arg1067Pro)
c.2615G>C (p.Arg872Pro)
c.3326G>C (p.Arg1109Pro)
c.2552G>C (p.Arg851Pro)
c.2519G>C (p.Arg840Pro)
n.3553G>C
c.2732G>C (p.Arg911Pro)
n.3547G>C
Xg.53238192C>TCA413146427IQSEC2c.3389G>A (p.Arg1130His)
c.1182G>A
c.691G>A
c.520G>A
c.95G>A (p.Arg32His)
c.293G>A (p.Arg98His)
n.260G>A
n.265G>A
c.3230G>A (p.Arg1077His)
c.3200G>A (p.Arg1067His)
c.2615G>A (p.Arg872His)
c.3326G>A (p.Arg1109His)
c.2552G>A (p.Arg851His)
c.2519G>A (p.Arg840His)
n.3553G>A
c.2732G>A (p.Arg911His)
n.3547G>A
Xg.53238193G>ACA10419834IQSEC2c.3388C>T (p.Arg1130Cys)
c.1181C>T
c.690C>T
c.519C>T
c.94C>T (p.Arg32Cys)
c.292C>T (p.Arg98Cys)
n.259C>T
n.264C>T
c.3229C>T (p.Arg1077Cys)
c.3199C>T (p.Arg1067Cys)
c.2614C>T (p.Arg872Cys)
c.3325C>T (p.Arg1109Cys)
c.2551C>T (p.Arg851Cys)
c.2518C>T (p.Arg840Cys)
n.3552C>T
c.2731C>T (p.Arg911Cys)
n.3546C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53238193G>CCA413146431IQSEC2c.3388C>G (p.Arg1130Gly)
c.1181C>G
c.690C>G
c.519C>G
c.94C>G (p.Arg32Gly)
c.292C>G (p.Arg98Gly)
n.259C>G
n.264C>G
c.3229C>G (p.Arg1077Gly)
c.3199C>G (p.Arg1067Gly)
c.2614C>G (p.Arg872Gly)
c.3325C>G (p.Arg1109Gly)
c.2551C>G (p.Arg851Gly)
c.2518C>G (p.Arg840Gly)
n.3552C>G
c.2731C>G (p.Arg911Gly)
n.3546C>G
Xg.53238193G=CA2429771701IQSEC2c.3388C= (p.Arg1130=)
c.1181C=
c.690C=
c.519C=
c.94C= (p.Arg32=)
c.292C= (p.Arg98=)
n.259C=
n.264C=
c.3229C= (p.Arg1077=)
c.3199C= (p.Arg1067=)
c.2614C= (p.Arg872=)
c.3325C= (p.Arg1109=)
c.2551C= (p.Arg851=)
c.2518C= (p.Arg840=)
n.3552C=
c.2731C= (p.Arg911=)
n.3546C=
Xg.53238193G>TCA413146434IQSEC2c.3388C>A (p.Arg1130Ser)
c.1181C>A
c.690C>A
c.519C>A
c.94C>A (p.Arg32Ser)
c.292C>A (p.Arg98Ser)
n.259C>A
n.264C>A
c.3229C>A (p.Arg1077Ser)
c.3199C>A (p.Arg1067Ser)
c.2614C>A (p.Arg872Ser)
c.3325C>A (p.Arg1109Ser)
c.2551C>A (p.Arg851Ser)
c.2518C>A (p.Arg840Ser)
n.3552C>A
c.2731C>A (p.Arg911Ser)
n.3546C>A
 ClinVar dbSNP
Xg.53238194C>ACA516420951IQSEC2c.3387G>T (p.Leu1129=)
c.1180G>T
c.689G>T
c.518G>T
c.93G>T (p.Leu31=)
c.291G>T (p.Leu97=)
n.258G>T
n.263G>T
c.3228G>T (p.Leu1076=)
c.3198G>T (p.Leu1066=)
c.2613G>T (p.Leu871=)
c.3324G>T (p.Leu1108=)
c.2550G>T (p.Leu850=)
c.2517G>T (p.Leu839=)
n.3551G>T
c.2730G>T (p.Leu910=)
n.3545G>T
 gnomAD v4
Xg.53238194C=CA2429771702IQSEC2c.3387G= (p.Leu1129=)
c.1180G=
c.689G=
c.518G=
c.93G= (p.Leu31=)
c.291G= (p.Leu97=)
n.258G=
n.263G=
c.3228G= (p.Leu1076=)
c.3198G= (p.Leu1066=)
c.2613G= (p.Leu871=)
c.3324G= (p.Leu1108=)
c.2550G= (p.Leu850=)
c.2517G= (p.Leu839=)
n.3551G=
c.2730G= (p.Leu910=)
n.3545G=
Xg.53238194C>GCA516420956IQSEC2c.3387G>C (p.Leu1129=)
c.1180G>C
c.689G>C
c.518G>C
c.93G>C (p.Leu31=)
c.291G>C (p.Leu97=)
n.258G>C
n.263G>C
c.3228G>C (p.Leu1076=)
c.3198G>C (p.Leu1066=)
c.2613G>C (p.Leu871=)
c.3324G>C (p.Leu1108=)
c.2550G>C (p.Leu850=)
c.2517G>C (p.Leu839=)
n.3551G>C
c.2730G>C (p.Leu910=)
n.3545G>C
Xg.53238194C>TCA516420954IQSEC2c.3387G>A (p.Leu1129=)
c.1180G>A
c.689G>A
c.518G>A
c.93G>A (p.Leu31=)
c.291G>A (p.Leu97=)
n.258G>A
n.263G>A
c.3228G>A (p.Leu1076=)
c.3198G>A (p.Leu1066=)
c.2613G>A (p.Leu871=)
c.3324G>A (p.Leu1108=)
c.2550G>A (p.Leu850=)
c.2517G>A (p.Leu839=)
n.3551G>A
c.2730G>A (p.Leu910=)
n.3545G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238195A>CCA413146444IQSEC2c.3386T>G (p.Leu1129Arg)
c.1179T>G
c.688T>G
c.517T>G
c.92T>G (p.Leu31Arg)
c.290T>G (p.Leu97Arg)
n.257T>G
n.262T>G
c.3227T>G (p.Leu1076Arg)
c.3197T>G (p.Leu1066Arg)
c.2612T>G (p.Leu871Arg)
c.3323T>G (p.Leu1108Arg)
c.2549T>G (p.Leu850Arg)
c.2516T>G (p.Leu839Arg)
n.3550T>G
c.2729T>G (p.Leu910Arg)
n.3544T>G
Xg.53238195A>GCA413146439IQSEC2c.3386T>C (p.Leu1129Pro)
c.1179T>C
c.688T>C
c.517T>C
c.92T>C (p.Leu31Pro)
c.290T>C (p.Leu97Pro)
n.257T>C
n.262T>C
c.3227T>C (p.Leu1076Pro)
c.3197T>C (p.Leu1066Pro)
c.2612T>C (p.Leu871Pro)
c.3323T>C (p.Leu1108Pro)
c.2549T>C (p.Leu850Pro)
c.2516T>C (p.Leu839Pro)
n.3550T>C
c.2729T>C (p.Leu910Pro)
n.3544T>C
 ClinVar
Xg.53238195A>TCA413146441IQSEC2c.3386T>A (p.Leu1129Gln)
c.1179T>A
c.688T>A
c.517T>A
c.92T>A (p.Leu31Gln)
c.290T>A (p.Leu97Gln)
n.257T>A
n.262T>A
c.3227T>A (p.Leu1076Gln)
c.3197T>A (p.Leu1066Gln)
c.2612T>A (p.Leu871Gln)
c.3323T>A (p.Leu1108Gln)
c.2549T>A (p.Leu850Gln)
c.2516T>A (p.Leu839Gln)
n.3550T>A
c.2729T>A (p.Leu910Gln)
n.3544T>A
Xg.53238196G>ACA516420969IQSEC2c.3385C>T (p.Leu1129=)
c.1178C>T
c.687C>T
c.516C>T
c.91C>T (p.Leu31=)
c.289C>T (p.Leu97=)
n.256C>T
n.261C>T
c.3226C>T (p.Leu1076=)
c.3196C>T (p.Leu1066=)
c.2611C>T (p.Leu871=)
c.3322C>T (p.Leu1108=)
c.2548C>T (p.Leu850=)
c.2515C>T (p.Leu839=)
n.3549C>T
c.2728C>T (p.Leu910=)
n.3543C>T
Xg.53238196G>CCA413146446IQSEC2c.3385C>G (p.Leu1129Val)
c.1178C>G
c.687C>G
c.516C>G
c.91C>G (p.Leu31Val)
c.289C>G (p.Leu97Val)
n.256C>G
n.261C>G
c.3226C>G (p.Leu1076Val)
c.3196C>G (p.Leu1066Val)
c.2611C>G (p.Leu871Val)
c.3322C>G (p.Leu1108Val)
c.2548C>G (p.Leu850Val)
c.2515C>G (p.Leu839Val)
n.3549C>G
c.2728C>G (p.Leu910Val)
n.3543C>G
Xg.53238196G>TCA413146449IQSEC2c.3385C>A (p.Leu1129Met)
c.1178C>A
c.687C>A
c.516C>A
c.91C>A (p.Leu31Met)
c.289C>A (p.Leu97Met)
n.256C>A
n.261C>A
c.3226C>A (p.Leu1076Met)
c.3196C>A (p.Leu1066Met)
c.2611C>A (p.Leu871Met)
c.3322C>A (p.Leu1108Met)
c.2548C>A (p.Leu850Met)
c.2515C>A (p.Leu839Met)
n.3549C>A
c.2728C>A (p.Leu910Met)
n.3543C>A
Xg.53238197G>ACA516420970IQSEC2c.3384C>T (p.Asp1128=)
c.1177C>T
c.686C>T
c.515C>T
c.90C>T (p.Asp30=)
c.288C>T (p.Asp96=)
n.255C>T
n.260C>T
c.3225C>T (p.Asp1075=)
c.3195C>T (p.Asp1065=)
c.2610C>T (p.Asp870=)
c.3321C>T (p.Asp1107=)
c.2547C>T (p.Asp849=)
c.2514C>T (p.Asp838=)
n.3548C>T
c.2727C>T (p.Asp909=)
n.3542C>T
Xg.53238197G>CCA413146453IQSEC2c.3384C>G (p.Asp1128Glu)
c.1177C>G
c.686C>G
c.515C>G
c.90C>G (p.Asp30Glu)
c.288C>G (p.Asp96Glu)
n.255C>G
n.260C>G
c.3225C>G (p.Asp1075Glu)
c.3195C>G (p.Asp1065Glu)
c.2610C>G (p.Asp870Glu)
c.3321C>G (p.Asp1107Glu)
c.2547C>G (p.Asp849Glu)
c.2514C>G (p.Asp838Glu)
n.3548C>G
c.2727C>G (p.Asp909Glu)
n.3542C>G
 ClinVar
Xg.53238197G>TCA413146456IQSEC2c.3384C>A (p.Asp1128Glu)
c.1177C>A
c.686C>A
c.515C>A
c.90C>A (p.Asp30Glu)
c.288C>A (p.Asp96Glu)
n.255C>A
n.260C>A
c.3225C>A (p.Asp1075Glu)
c.3195C>A (p.Asp1065Glu)
c.2610C>A (p.Asp870Glu)
c.3321C>A (p.Asp1107Glu)
c.2547C>A (p.Asp849Glu)
c.2514C>A (p.Asp838Glu)
n.3548C>A
c.2727C>A (p.Asp909Glu)
n.3542C>A
Xg.53238198T>ACA413146460IQSEC2c.3383A>T (p.Asp1128Val)
c.1176A>T
c.685A>T
c.514A>T
c.89A>T (p.Asp30Val)
c.287A>T (p.Asp96Val)
n.254A>T
n.259A>T
c.3224A>T (p.Asp1075Val)
c.3194A>T (p.Asp1065Val)
c.2609A>T (p.Asp870Val)
c.3320A>T (p.Asp1107Val)
c.2546A>T (p.Asp849Val)
c.2513A>T (p.Asp838Val)
n.3547A>T
c.2726A>T (p.Asp909Val)
n.3541A>T
Xg.53238198T>CCA413146462IQSEC2c.3383A>G (p.Asp1128Gly)
c.1176A>G
c.685A>G
c.514A>G
c.89A>G (p.Asp30Gly)
c.287A>G (p.Asp96Gly)
n.254A>G
n.259A>G
c.3224A>G (p.Asp1075Gly)
c.3194A>G (p.Asp1065Gly)
c.2609A>G (p.Asp870Gly)
c.3320A>G (p.Asp1107Gly)
c.2546A>G (p.Asp849Gly)
c.2513A>G (p.Asp838Gly)
n.3547A>G
c.2726A>G (p.Asp909Gly)
n.3541A>G
Xg.53238198T>GCA413146466IQSEC2c.3383A>C (p.Asp1128Ala)
c.1176A>C
c.685A>C
c.514A>C
c.89A>C (p.Asp30Ala)
c.287A>C (p.Asp96Ala)
n.254A>C
n.259A>C
c.3224A>C (p.Asp1075Ala)
c.3194A>C (p.Asp1065Ala)
c.2609A>C (p.Asp870Ala)
c.3320A>C (p.Asp1107Ala)
c.2546A>C (p.Asp849Ala)
c.2513A>C (p.Asp838Ala)
n.3547A>C
c.2726A>C (p.Asp909Ala)
n.3541A>C
Xg.53238199C>ACA413146470IQSEC2c.3382G>T (p.Asp1128Tyr)
c.1175G>T
c.684G>T
c.513G>T
c.88G>T (p.Asp30Tyr)
c.286G>T (p.Asp96Tyr)
n.253G>T
n.258G>T
c.3223G>T (p.Asp1075Tyr)
c.3193G>T (p.Asp1065Tyr)
c.2608G>T (p.Asp870Tyr)
c.3319G>T (p.Asp1107Tyr)
c.2545G>T (p.Asp849Tyr)
c.2512G>T (p.Asp838Tyr)
n.3546G>T
c.2725G>T (p.Asp909Tyr)
n.3540G>T
Xg.53238199C=CA2429771703IQSEC2c.3382G= (p.Asp1128=)
c.1175G=
c.684G=
c.513G=
c.88G= (p.Asp30=)
c.286G= (p.Asp96=)
n.253G=
n.258G=
c.3223G= (p.Asp1075=)
c.3193G= (p.Asp1065=)
c.2608G= (p.Asp870=)
c.3319G= (p.Asp1107=)
c.2545G= (p.Asp849=)
c.2512G= (p.Asp838=)
n.3546G=
c.2725G= (p.Asp909=)
n.3540G=
Xg.53238199C>GCA413146473IQSEC2c.3382G>C (p.Asp1128His)
c.1175G>C
c.684G>C
c.513G>C
c.88G>C (p.Asp30His)
c.286G>C (p.Asp96His)
n.253G>C
n.258G>C
c.3223G>C (p.Asp1075His)
c.3193G>C (p.Asp1065His)
c.2608G>C (p.Asp870His)
c.3319G>C (p.Asp1107His)
c.2545G>C (p.Asp849His)
c.2512G>C (p.Asp838His)
n.3546G>C
c.2725G>C (p.Asp909His)
n.3540G>C
Xg.53238199C>TCA413146475IQSEC2c.3382G>A (p.Asp1128Asn)
c.1175G>A
c.684G>A
c.513G>A
c.88G>A (p.Asp30Asn)
c.286G>A (p.Asp96Asn)
n.253G>A
n.258G>A
c.3223G>A (p.Asp1075Asn)
c.3193G>A (p.Asp1065Asn)
c.2608G>A (p.Asp870Asn)
c.3319G>A (p.Asp1107Asn)
c.2545G>A (p.Asp849Asn)
c.2512G>A (p.Asp838Asn)
n.3546G>A
c.2725G>A (p.Asp909Asn)
n.3540G>A
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53238200G>ACA516421004IQSEC2c.3381C>T (p.Ser1127=)
c.1174C>T
c.683C>T
c.512C>T
c.87C>T (p.Ser29=)
c.285C>T (p.Ser95=)
n.252C>T
n.257C>T
c.3222C>T (p.Ser1074=)
c.3192C>T (p.Ser1064=)
c.2607C>T (p.Ser869=)
c.3318C>T (p.Ser1106=)
c.2544C>T (p.Ser848=)
c.2511C>T (p.Ser837=)
n.3545C>T
c.2724C>T (p.Ser908=)
n.3539C>T
 ClinVar dbSNP gnomAD v4
Xg.53238200G>CCA516421008IQSEC2c.3381C>G (p.Ser1127=)
c.1174C>G
c.683C>G
c.512C>G
c.87C>G (p.Ser29=)
c.285C>G (p.Ser95=)
n.252C>G
n.257C>G
c.3222C>G (p.Ser1074=)
c.3192C>G (p.Ser1064=)
c.2607C>G (p.Ser869=)
c.3318C>G (p.Ser1106=)
c.2544C>G (p.Ser848=)
c.2511C>G (p.Ser837=)
n.3545C>G
c.2724C>G (p.Ser908=)
n.3539C>G
Xg.53238200G=CA2429771704IQSEC2c.3381C= (p.Ser1127=)
c.1174C=
c.683C=
c.512C=
c.87C= (p.Ser29=)
c.285C= (p.Ser95=)
n.252C=
n.257C=
c.3222C= (p.Ser1074=)
c.3192C= (p.Ser1064=)
c.2607C= (p.Ser869=)
c.3318C= (p.Ser1106=)
c.2544C= (p.Ser848=)
c.2511C= (p.Ser837=)
n.3545C=
c.2724C= (p.Ser908=)
n.3539C=
Xg.53238200G>TCA516421009IQSEC2c.3381C>A (p.Ser1127=)
c.1174C>A
c.683C>A
c.512C>A
c.87C>A (p.Ser29=)
c.285C>A (p.Ser95=)
n.252C>A
n.257C>A
c.3222C>A (p.Ser1074=)
c.3192C>A (p.Ser1064=)
c.2607C>A (p.Ser869=)
c.3318C>A (p.Ser1106=)
c.2544C>A (p.Ser848=)
c.2511C>A (p.Ser837=)
n.3545C>A
c.2724C>A (p.Ser908=)
n.3539C>A
Xg.53238201G>ACA413146481IQSEC2c.3380C>T (p.Ser1127Phe)
c.1173C>T
c.682C>T
c.511C>T
c.86C>T (p.Ser29Phe)
c.284C>T (p.Ser95Phe)
n.251C>T
n.256C>T
c.3221C>T (p.Ser1074Phe)
c.3191C>T (p.Ser1064Phe)
c.2606C>T (p.Ser869Phe)
c.3317C>T (p.Ser1106Phe)
c.2543C>T (p.Ser848Phe)
c.2510C>T (p.Ser837Phe)
n.3544C>T
c.2723C>T (p.Ser908Phe)
n.3538C>T
Xg.53238201G>CCA413146485IQSEC2c.3380C>G (p.Ser1127Cys)
c.1173C>G
c.682C>G
c.511C>G
c.86C>G (p.Ser29Cys)
c.284C>G (p.Ser95Cys)
n.251C>G
n.256C>G
c.3221C>G (p.Ser1074Cys)
c.3191C>G (p.Ser1064Cys)
c.2606C>G (p.Ser869Cys)
c.3317C>G (p.Ser1106Cys)
c.2543C>G (p.Ser848Cys)
c.2510C>G (p.Ser837Cys)
n.3544C>G
c.2723C>G (p.Ser908Cys)
n.3538C>G
Xg.53238201G>TCA413146487IQSEC2c.3380C>A (p.Ser1127Tyr)
c.1173C>A
c.682C>A
c.511C>A
c.86C>A (p.Ser29Tyr)
c.284C>A (p.Ser95Tyr)
n.251C>A
n.256C>A
c.3221C>A (p.Ser1074Tyr)
c.3191C>A (p.Ser1064Tyr)
c.2606C>A (p.Ser869Tyr)
c.3317C>A (p.Ser1106Tyr)
c.2543C>A (p.Ser848Tyr)
c.2510C>A (p.Ser837Tyr)
n.3544C>A
c.2723C>A (p.Ser908Tyr)
n.3538C>A
Xg.53238202A>CCA413146496IQSEC2c.3379T>G (p.Ser1127Ala)
c.1172T>G
c.681T>G
c.510T>G
c.85T>G (p.Ser29Ala)
c.283T>G (p.Ser95Ala)
n.250T>G
n.255T>G
c.3220T>G (p.Ser1074Ala)
c.3190T>G (p.Ser1064Ala)
c.2605T>G (p.Ser869Ala)
c.3316T>G (p.Ser1106Ala)
c.2542T>G (p.Ser848Ala)
c.2509T>G (p.Ser837Ala)
n.3543T>G
c.2722T>G (p.Ser908Ala)
n.3537T>G
Xg.53238202A>GCA413146491IQSEC2c.3379T>C (p.Ser1127Pro)
c.1172T>C
c.681T>C
c.510T>C
c.85T>C (p.Ser29Pro)
c.283T>C (p.Ser95Pro)
n.250T>C
n.255T>C
c.3220T>C (p.Ser1074Pro)
c.3190T>C (p.Ser1064Pro)
c.2605T>C (p.Ser869Pro)
c.3316T>C (p.Ser1106Pro)
c.2542T>C (p.Ser848Pro)
c.2509T>C (p.Ser837Pro)
n.3543T>C
c.2722T>C (p.Ser908Pro)
n.3537T>C
Xg.53238202A>TCA413146490IQSEC2c.3379T>A (p.Ser1127Thr)
c.1172T>A
c.681T>A
c.510T>A
c.85T>A (p.Ser29Thr)
c.283T>A (p.Ser95Thr)
n.250T>A
n.255T>A
c.3220T>A (p.Ser1074Thr)
c.3190T>A (p.Ser1064Thr)
c.2605T>A (p.Ser869Thr)
c.3316T>A (p.Ser1106Thr)
c.2542T>A (p.Ser848Thr)
c.2509T>A (p.Ser837Thr)
n.3543T>A
c.2722T>A (p.Ser908Thr)
n.3537T>A
Xg.53238203T>ACA516421020IQSEC2c.3378A>T (p.Thr1126=)
c.1171A>T
c.680A>T
c.509A>T
c.84A>T (p.Thr28=)
c.282A>T (p.Thr94=)
n.249A>T
n.254A>T
c.3219A>T (p.Thr1073=)
c.3189A>T (p.Thr1063=)
c.2604A>T (p.Thr868=)
c.3315A>T (p.Thr1105=)
c.2541A>T (p.Thr847=)
c.2508A>T (p.Thr836=)
n.3542A>T
c.2721A>T (p.Thr907=)
n.3536A>T
Xg.53238203T>CCA516421023IQSEC2c.3378A>G (p.Thr1126=)
c.1171A>G
c.680A>G
c.509A>G
c.84A>G (p.Thr28=)
c.282A>G (p.Thr94=)
n.249A>G
n.254A>G
c.3219A>G (p.Thr1073=)
c.3189A>G (p.Thr1063=)
c.2604A>G (p.Thr868=)
c.3315A>G (p.Thr1105=)
c.2541A>G (p.Thr847=)
c.2508A>G (p.Thr836=)
n.3542A>G
c.2721A>G (p.Thr907=)
n.3536A>G
Xg.53238203T>GCA516421025IQSEC2c.3378A>C (p.Thr1126=)
c.1171A>C
c.680A>C
c.509A>C
c.84A>C (p.Thr28=)
c.282A>C (p.Thr94=)
n.249A>C
n.254A>C
c.3219A>C (p.Thr1073=)
c.3189A>C (p.Thr1063=)
c.2604A>C (p.Thr868=)
c.3315A>C (p.Thr1105=)
c.2541A>C (p.Thr847=)
c.2508A>C (p.Thr836=)
n.3542A>C
c.2721A>C (p.Thr907=)
n.3536A>C
Xg.53238204G>ACA413146500IQSEC2c.3377C>T (p.Thr1126Ile)
c.1170C>T
c.679C>T
c.508C>T
c.83C>T (p.Thr28Ile)
c.281C>T (p.Thr94Ile)
n.248C>T
n.253C>T
c.3218C>T (p.Thr1073Ile)
c.3188C>T (p.Thr1063Ile)
c.2603C>T (p.Thr868Ile)
c.3314C>T (p.Thr1105Ile)
c.2540C>T (p.Thr847Ile)
c.2507C>T (p.Thr836Ile)
n.3541C>T
c.2720C>T (p.Thr907Ile)
n.3535C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53238204G>CCA413146503IQSEC2c.3377C>G (p.Thr1126Arg)
c.1170C>G
c.679C>G
c.508C>G
c.83C>G (p.Thr28Arg)
c.281C>G (p.Thr94Arg)
n.248C>G
n.253C>G
c.3218C>G (p.Thr1073Arg)
c.3188C>G (p.Thr1063Arg)
c.2603C>G (p.Thr868Arg)
c.3314C>G (p.Thr1105Arg)
c.2540C>G (p.Thr847Arg)
c.2507C>G (p.Thr836Arg)
n.3541C>G
c.2720C>G (p.Thr907Arg)
n.3535C>G
Xg.53238204G=CA2429771705IQSEC2c.3377C= (p.Thr1126=)
c.1170C=
c.679C=
c.508C=
c.83C= (p.Thr28=)
c.281C= (p.Thr94=)
n.248C=
n.253C=
c.3218C= (p.Thr1073=)
c.3188C= (p.Thr1063=)
c.2603C= (p.Thr868=)
c.3314C= (p.Thr1105=)
c.2540C= (p.Thr847=)
c.2507C= (p.Thr836=)
n.3541C=
c.2720C= (p.Thr907=)
n.3535C=
Xg.53238204G>TCA413146506IQSEC2c.3377C>A (p.Thr1126Lys)
c.1170C>A
c.679C>A
c.508C>A
c.83C>A (p.Thr28Lys)
c.281C>A (p.Thr94Lys)
n.248C>A
n.253C>A
c.3218C>A (p.Thr1073Lys)
c.3188C>A (p.Thr1063Lys)
c.2603C>A (p.Thr868Lys)
c.3314C>A (p.Thr1105Lys)
c.2540C>A (p.Thr847Lys)
c.2507C>A (p.Thr836Lys)
n.3541C>A
c.2720C>A (p.Thr907Lys)
n.3535C>A
Xg.53238205T>ACA413146510IQSEC2c.3376A>T (p.Thr1126Ser)
c.1169A>T
c.678A>T
c.507A>T
c.82A>T (p.Thr28Ser)
c.280A>T (p.Thr94Ser)
n.247A>T
n.252A>T
c.3217A>T (p.Thr1073Ser)
c.3187A>T (p.Thr1063Ser)
c.2602A>T (p.Thr868Ser)
c.3313A>T (p.Thr1105Ser)
c.2539A>T (p.Thr847Ser)
c.2506A>T (p.Thr836Ser)
n.3540A>T
c.2719A>T (p.Thr907Ser)
n.3534A>T
Xg.53238205T>CCA413146513IQSEC2c.3376A>G (p.Thr1126Ala)
c.1169A>G
c.678A>G
c.507A>G
c.82A>G (p.Thr28Ala)
c.280A>G (p.Thr94Ala)
n.247A>G
n.252A>G
c.3217A>G (p.Thr1073Ala)
c.3187A>G (p.Thr1063Ala)
c.2602A>G (p.Thr868Ala)
c.3313A>G (p.Thr1105Ala)
c.2539A>G (p.Thr847Ala)
c.2506A>G (p.Thr836Ala)
n.3540A>G
c.2719A>G (p.Thr907Ala)
n.3534A>G
 dbSNP
Xg.53238205T>GCA413146516IQSEC2c.3376A>C (p.Thr1126Pro)
c.1169A>C
c.678A>C
c.507A>C
c.82A>C (p.Thr28Pro)
c.280A>C (p.Thr94Pro)
n.247A>C
n.252A>C
c.3217A>C (p.Thr1073Pro)
c.3187A>C (p.Thr1063Pro)
c.2602A>C (p.Thr868Pro)
c.3313A>C (p.Thr1105Pro)
c.2539A>C (p.Thr847Pro)
c.2506A>C (p.Thr836Pro)
n.3540A>C
c.2719A>C (p.Thr907Pro)
n.3534A>C
Xg.53238205T=CA2429771706IQSEC2c.3376A= (p.Thr1126=)
c.1169A=
c.678A=
c.507A=
c.82A= (p.Thr28=)
c.280A= (p.Thr94=)
n.247A=
n.252A=
c.3217A= (p.Thr1073=)
c.3187A= (p.Thr1063=)
c.2602A= (p.Thr868=)
c.3313A= (p.Thr1105=)
c.2539A= (p.Thr847=)
c.2506A= (p.Thr836=)
n.3540A=
c.2719A= (p.Thr907=)
n.3534A=
Xg.53238206A>CCA413146520IQSEC2c.3375T>G (p.Phe1125Leu)
c.1168T>G
c.677T>G
c.506T>G
c.81T>G (p.Phe27Leu)
c.279T>G (p.Phe93Leu)
n.246T>G
n.251T>G
c.3216T>G (p.Phe1072Leu)
c.3186T>G (p.Phe1062Leu)
c.2601T>G (p.Phe867Leu)
c.3312T>G (p.Phe1104Leu)
c.2538T>G (p.Phe846Leu)
c.2505T>G (p.Phe835Leu)
n.3539T>G
c.2718T>G (p.Phe906Leu)
n.3533T>G
Xg.53238206A>GCA516421052IQSEC2c.3375T>C (p.Phe1125=)
c.1168T>C
c.677T>C
c.506T>C
c.81T>C (p.Phe27=)
c.279T>C (p.Phe93=)
n.246T>C
n.251T>C
c.3216T>C (p.Phe1072=)
c.3186T>C (p.Phe1062=)
c.2601T>C (p.Phe867=)
c.3312T>C (p.Phe1104=)
c.2538T>C (p.Phe846=)
c.2505T>C (p.Phe835=)
n.3539T>C
c.2718T>C (p.Phe906=)
n.3533T>C
Xg.53238206A>TCA413146523IQSEC2c.3375T>A (p.Phe1125Leu)
c.1168T>A
c.677T>A
c.506T>A
c.81T>A (p.Phe27Leu)
c.279T>A (p.Phe93Leu)
n.246T>A
n.251T>A
c.3216T>A (p.Phe1072Leu)
c.3186T>A (p.Phe1062Leu)
c.2601T>A (p.Phe867Leu)
c.3312T>A (p.Phe1104Leu)
c.2538T>A (p.Phe846Leu)
c.2505T>A (p.Phe835Leu)
n.3539T>A
c.2718T>A (p.Phe906Leu)
n.3533T>A
Xg.53238207A>CCA413146527IQSEC2c.3374T>G (p.Phe1125Cys)
c.1167T>G
c.676T>G
c.505T>G
c.80T>G (p.Phe27Cys)
c.278T>G (p.Phe93Cys)
n.245T>G
n.250T>G
c.3215T>G (p.Phe1072Cys)
c.3185T>G (p.Phe1062Cys)
c.2600T>G (p.Phe867Cys)
c.3311T>G (p.Phe1104Cys)
c.2537T>G (p.Phe846Cys)
c.2504T>G (p.Phe835Cys)
n.3538T>G
c.2717T>G (p.Phe906Cys)
n.3532T>G
Xg.53238207A>GCA413146530IQSEC2c.3374T>C (p.Phe1125Ser)
c.1167T>C
c.676T>C
c.505T>C
c.80T>C (p.Phe27Ser)
c.278T>C (p.Phe93Ser)
n.245T>C
n.250T>C
c.3215T>C (p.Phe1072Ser)
c.3185T>C (p.Phe1062Ser)
c.2600T>C (p.Phe867Ser)
c.3311T>C (p.Phe1104Ser)
c.2537T>C (p.Phe846Ser)
c.2504T>C (p.Phe835Ser)
n.3538T>C
c.2717T>C (p.Phe906Ser)
n.3532T>C
Xg.53238207A>TCA413146532IQSEC2c.3374T>A (p.Phe1125Tyr)
c.1167T>A
c.676T>A
c.505T>A
c.80T>A (p.Phe27Tyr)
c.278T>A (p.Phe93Tyr)
n.245T>A
n.250T>A
c.3215T>A (p.Phe1072Tyr)
c.3185T>A (p.Phe1062Tyr)
c.2600T>A (p.Phe867Tyr)
c.3311T>A (p.Phe1104Tyr)
c.2537T>A (p.Phe846Tyr)
c.2504T>A (p.Phe835Tyr)
n.3538T>A
c.2717T>A (p.Phe906Tyr)
n.3532T>A
Xg.53238208A>CCA413146539IQSEC2c.3373T>G (p.Phe1125Val)
c.1166T>G
c.675T>G
c.504T>G
c.79T>G (p.Phe27Val)
c.277T>G (p.Phe93Val)
n.244T>G
n.249T>G
c.3214T>G (p.Phe1072Val)
c.3184T>G (p.Phe1062Val)
c.2599T>G (p.Phe867Val)
c.3310T>G (p.Phe1104Val)
c.2536T>G (p.Phe846Val)
c.2503T>G (p.Phe835Val)
n.3537T>G
c.2716T>G (p.Phe906Val)
n.3531T>G
Xg.53238208A>GCA413146542IQSEC2c.3373T>C (p.Phe1125Leu)
c.1166T>C
c.675T>C
c.504T>C
c.79T>C (p.Phe27Leu)
c.277T>C (p.Phe93Leu)
n.244T>C
n.249T>C
c.3214T>C (p.Phe1072Leu)
c.3184T>C (p.Phe1062Leu)
c.2599T>C (p.Phe867Leu)
c.3310T>C (p.Phe1104Leu)
c.2536T>C (p.Phe846Leu)
c.2503T>C (p.Phe835Leu)
n.3537T>C
c.2716T>C (p.Phe906Leu)
n.3531T>C
Xg.53238208A>TCA413146545IQSEC2c.3373T>A (p.Phe1125Ile)
c.1166T>A
c.675T>A
c.504T>A
c.79T>A (p.Phe27Ile)
c.277T>A (p.Phe93Ile)
n.244T>A
n.249T>A
c.3214T>A (p.Phe1072Ile)
c.3184T>A (p.Phe1062Ile)
c.2599T>A (p.Phe867Ile)
c.3310T>A (p.Phe1104Ile)
c.2536T>A (p.Phe846Ile)
c.2503T>A (p.Phe835Ile)
n.3537T>A
c.2716T>A (p.Phe906Ile)
n.3531T>A
Xg.53238209G>ACA516421064IQSEC2c.3372C>T (p.Arg1124=)
c.1165C>T
c.674C>T
c.503C>T
c.78C>T (p.Arg26=)
c.276C>T (p.Arg92=)
n.243C>T
n.248C>T
c.3213C>T (p.Arg1071=)
c.3183C>T (p.Arg1061=)
c.2598C>T (p.Arg866=)
c.3309C>T (p.Arg1103=)
c.2535C>T (p.Arg845=)
c.2502C>T (p.Arg834=)
n.3536C>T
c.2715C>T (p.Arg905=)
n.3530C>T
Xg.53238209G>CCA516421069IQSEC2c.3372C>G (p.Arg1124=)
c.1165C>G
c.674C>G
c.503C>G
c.78C>G (p.Arg26=)
c.276C>G (p.Arg92=)
n.243C>G
n.248C>G
c.3213C>G (p.Arg1071=)
c.3183C>G (p.Arg1061=)
c.2598C>G (p.Arg866=)
c.3309C>G (p.Arg1103=)
c.2535C>G (p.Arg845=)
c.2502C>G (p.Arg834=)
n.3536C>G
c.2715C>G (p.Arg905=)
n.3530C>G
Xg.53238209G>TCA516421072IQSEC2c.3372C>A (p.Arg1124=)
c.1165C>A
c.674C>A
c.503C>A
c.78C>A (p.Arg26=)
c.276C>A (p.Arg92=)
n.243C>A
n.248C>A
c.3213C>A (p.Arg1071=)
c.3183C>A (p.Arg1061=)
c.2598C>A (p.Arg866=)
c.3309C>A (p.Arg1103=)
c.2535C>A (p.Arg845=)
c.2502C>A (p.Arg834=)
n.3536C>A
c.2715C>A (p.Arg905=)
n.3530C>A
Xg.53238210C>ACA413146553IQSEC2c.3371G>T (p.Arg1124Leu)
c.1164G>T
c.673G>T
c.502G>T
c.77G>T (p.Arg26Leu)
c.275G>T (p.Arg92Leu)
n.242G>T
n.247G>T
c.3212G>T (p.Arg1071Leu)
c.3182G>T (p.Arg1061Leu)
c.2597G>T (p.Arg866Leu)
c.3308G>T (p.Arg1103Leu)
c.2534G>T (p.Arg845Leu)
c.2501G>T (p.Arg834Leu)
n.3535G>T
c.2714G>T (p.Arg905Leu)
n.3529G>T
Xg.53238210C>GCA413146557IQSEC2c.3371G>C (p.Arg1124Pro)
c.1164G>C
c.673G>C
c.502G>C
c.77G>C (p.Arg26Pro)
c.275G>C (p.Arg92Pro)
n.242G>C
n.247G>C
c.3212G>C (p.Arg1071Pro)
c.3182G>C (p.Arg1061Pro)
c.2597G>C (p.Arg866Pro)
c.3308G>C (p.Arg1103Pro)
c.2534G>C (p.Arg845Pro)
c.2501G>C (p.Arg834Pro)
n.3535G>C
c.2714G>C (p.Arg905Pro)
n.3529G>C
Xg.53238210C>TCA413146550IQSEC2c.3371G>A (p.Arg1124His)
c.1164G>A
c.673G>A
c.502G>A
c.77G>A (p.Arg26His)
c.275G>A (p.Arg92His)
n.242G>A
n.247G>A
c.3212G>A (p.Arg1071His)
c.3182G>A (p.Arg1061His)
c.2597G>A (p.Arg866His)
c.3308G>A (p.Arg1103His)
c.2534G>A (p.Arg845His)
c.2501G>A (p.Arg834His)
n.3535G>A
c.2714G>A (p.Arg905His)
n.3529G>A
 ClinVar
Xg.53238211G>ACA413146562IQSEC2c.3370C>T (p.Arg1124Cys)
c.1163C>T
c.672C>T
c.501C>T
c.76C>T (p.Arg26Cys)
c.274C>T (p.Arg92Cys)
n.241C>T
n.246C>T
c.3211C>T (p.Arg1071Cys)
c.3181C>T (p.Arg1061Cys)
c.2596C>T (p.Arg866Cys)
c.3307C>T (p.Arg1103Cys)
c.2533C>T (p.Arg845Cys)
c.2500C>T (p.Arg834Cys)
n.3534C>T
c.2713C>T (p.Arg905Cys)
n.3528C>T
 COSMIC COSMIC COSMIC
Xg.53238211G>CCA413146565IQSEC2c.3370C>G (p.Arg1124Gly)
c.1163C>G
c.672C>G
c.501C>G
c.76C>G (p.Arg26Gly)
c.274C>G (p.Arg92Gly)
n.241C>G
n.246C>G
c.3211C>G (p.Arg1071Gly)
c.3181C>G (p.Arg1061Gly)
c.2596C>G (p.Arg866Gly)
c.3307C>G (p.Arg1103Gly)
c.2533C>G (p.Arg845Gly)
c.2500C>G (p.Arg834Gly)
n.3534C>G
c.2713C>G (p.Arg905Gly)
n.3528C>G
Xg.53238211G>TCA413146568IQSEC2c.3370C>A (p.Arg1124Ser)
c.1163C>A
c.672C>A
c.501C>A
c.76C>A (p.Arg26Ser)
c.274C>A (p.Arg92Ser)
n.241C>A
n.246C>A
c.3211C>A (p.Arg1071Ser)
c.3181C>A (p.Arg1061Ser)
c.2596C>A (p.Arg866Ser)
c.3307C>A (p.Arg1103Ser)
c.2533C>A (p.Arg845Ser)
c.2500C>A (p.Arg834Ser)
n.3534C>A
c.2713C>A (p.Arg905Ser)
n.3528C>A
Xg.53238212C>ACA516421088IQSEC2c.3369G>T (p.Leu1123=)
c.1162G>T
c.671G>T
c.500G>T
c.75G>T (p.Leu25=)
c.273G>T (p.Leu91=)
n.240G>T
n.245G>T
c.3210G>T (p.Leu1070=)
c.3180G>T (p.Leu1060=)
c.2595G>T (p.Leu865=)
c.3306G>T (p.Leu1102=)
c.2532G>T (p.Leu844=)
c.2499G>T (p.Leu833=)
n.3533G>T
c.2712G>T (p.Leu904=)
n.3527G>T
Xg.53238212C=CA2429771707IQSEC2c.3369G= (p.Leu1123=)
c.1162G=
c.671G=
c.500G=
c.75G= (p.Leu25=)
c.273G= (p.Leu91=)
n.240G=
n.245G=
c.3210G= (p.Leu1070=)
c.3180G= (p.Leu1060=)
c.2595G= (p.Leu865=)
c.3306G= (p.Leu1102=)
c.2532G= (p.Leu844=)
c.2499G= (p.Leu833=)
n.3533G=
c.2712G= (p.Leu904=)
n.3527G=
Xg.53238212C>GCA516421092IQSEC2c.3369G>C (p.Leu1123=)
c.1162G>C
c.671G>C
c.500G>C
c.75G>C (p.Leu25=)
c.273G>C (p.Leu91=)
n.240G>C
n.245G>C
c.3210G>C (p.Leu1070=)
c.3180G>C (p.Leu1060=)
c.2595G>C (p.Leu865=)
c.3306G>C (p.Leu1102=)
c.2532G>C (p.Leu844=)
c.2499G>C (p.Leu833=)
n.3533G>C
c.2712G>C (p.Leu904=)
n.3527G>C
Xg.53238212C>TCA516421094IQSEC2c.3369G>A (p.Leu1123=)
c.1162G>A
c.671G>A
c.500G>A
c.75G>A (p.Leu25=)
c.273G>A (p.Leu91=)
n.240G>A
n.245G>A
c.3210G>A (p.Leu1070=)
c.3180G>A (p.Leu1060=)
c.2595G>A (p.Leu865=)
c.3306G>A (p.Leu1102=)
c.2532G>A (p.Leu844=)
c.2499G>A (p.Leu833=)
n.3533G>A
c.2712G>A (p.Leu904=)
n.3527G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53238213A>CCA413146572IQSEC2c.3368T>G (p.Leu1123Arg)
c.1161T>G
c.670T>G
c.499T>G
c.74T>G (p.Leu25Arg)
c.272T>G (p.Leu91Arg)
n.239T>G
n.244T>G
c.3209T>G (p.Leu1070Arg)
c.3179T>G (p.Leu1060Arg)
c.2594T>G (p.Leu865Arg)
c.3305T>G (p.Leu1102Arg)
c.2531T>G (p.Leu844Arg)
c.2498T>G (p.Leu833Arg)
n.3532T>G
c.2711T>G (p.Leu904Arg)
n.3526T>G
Xg.53238213A>GCA413146575IQSEC2c.3368T>C (p.Leu1123Pro)
c.1161T>C
c.670T>C
c.499T>C
c.74T>C (p.Leu25Pro)
c.272T>C (p.Leu91Pro)
n.239T>C
n.244T>C
c.3209T>C (p.Leu1070Pro)
c.3179T>C (p.Leu1060Pro)
c.2594T>C (p.Leu865Pro)
c.3305T>C (p.Leu1102Pro)
c.2531T>C (p.Leu844Pro)
c.2498T>C (p.Leu833Pro)
n.3532T>C
c.2711T>C (p.Leu904Pro)
n.3526T>C
Xg.53238213A>TCA413146577IQSEC2c.3368T>A (p.Leu1123Gln)
c.1161T>A
c.670T>A
c.499T>A
c.74T>A (p.Leu25Gln)
c.272T>A (p.Leu91Gln)
n.239T>A
n.244T>A
c.3209T>A (p.Leu1070Gln)
c.3179T>A (p.Leu1060Gln)
c.2594T>A (p.Leu865Gln)
c.3305T>A (p.Leu1102Gln)
c.2531T>A (p.Leu844Gln)
c.2498T>A (p.Leu833Gln)
n.3532T>A
c.2711T>A (p.Leu904Gln)
n.3526T>A
Xg.53238214G>ACA516421106IQSEC2c.3367C>T (p.Leu1123=)
c.1160C>T
c.669C>T
c.498C>T
c.73C>T (p.Leu25=)
c.271C>T (p.Leu91=)
n.238C>T
n.243C>T
c.3208C>T (p.Leu1070=)
c.3178C>T (p.Leu1060=)
c.2593C>T (p.Leu865=)
c.3304C>T (p.Leu1102=)
c.2530C>T (p.Leu844=)
c.2497C>T (p.Leu833=)
n.3531C>T
c.2710C>T (p.Leu904=)
n.3525C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53238214G>CCA413146581IQSEC2c.3367C>G (p.Leu1123Val)
c.1160C>G
c.669C>G
c.498C>G
c.73C>G (p.Leu25Val)
c.271C>G (p.Leu91Val)
n.238C>G
n.243C>G
c.3208C>G (p.Leu1070Val)
c.3178C>G (p.Leu1060Val)
c.2593C>G (p.Leu865Val)
c.3304C>G (p.Leu1102Val)
c.2530C>G (p.Leu844Val)
c.2497C>G (p.Leu833Val)
n.3531C>G
c.2710C>G (p.Leu904Val)
n.3525C>G
Xg.53238214G=CA2429771708IQSEC2c.3367C= (p.Leu1123=)
c.1160C=
c.669C=
c.498C=
c.73C= (p.Leu25=)
c.271C= (p.Leu91=)
n.238C=
n.243C=
c.3208C= (p.Leu1070=)
c.3178C= (p.Leu1060=)
c.2593C= (p.Leu865=)
c.3304C= (p.Leu1102=)
c.2530C= (p.Leu844=)
c.2497C= (p.Leu833=)
n.3531C=
c.2710C= (p.Leu904=)
n.3525C=
Xg.53238214G>TCA413146597IQSEC2c.3367C>A (p.Leu1123Met)
c.1160C>A
c.669C>A
c.498C>A
c.73C>A (p.Leu25Met)
c.271C>A (p.Leu91Met)
n.238C>A
n.243C>A
c.3208C>A (p.Leu1070Met)
c.3178C>A (p.Leu1060Met)
c.2593C>A (p.Leu865Met)
c.3304C>A (p.Leu1102Met)
c.2530C>A (p.Leu844Met)
c.2497C>A (p.Leu833Met)
n.3531C>A
c.2710C>A (p.Leu904Met)
n.3525C>A
Xg.53238215C>ACA516421117IQSEC2c.3366G>T (p.Arg1122=)
c.1159G>T
c.668G>T
c.497G>T
c.72G>T (p.Arg24=)
c.270G>T (p.Arg90=)
n.237G>T
n.242G>T
c.3207G>T (p.Arg1069=)
c.3177G>T (p.Arg1059=)
c.2592G>T (p.Arg864=)
c.3303G>T (p.Arg1101=)
c.2529G>T (p.Arg843=)
c.2496G>T (p.Arg832=)
n.3530G>T
c.2709G>T (p.Arg903=)
n.3524G>T
Xg.53238215C>GCA516421116IQSEC2c.3366G>C (p.Arg1122=)
c.1159G>C
c.668G>C
c.497G>C
c.72G>C (p.Arg24=)
c.270G>C (p.Arg90=)
n.237G>C
n.242G>C
c.3207G>C (p.Arg1069=)
c.3177G>C (p.Arg1059=)
c.2592G>C (p.Arg864=)
c.3303G>C (p.Arg1101=)
c.2529G>C (p.Arg843=)
c.2496G>C (p.Arg832=)
n.3530G>C
c.2709G>C (p.Arg903=)
n.3524G>C
Xg.53238215C>TCA516421113IQSEC2c.3366G>A (p.Arg1122=)
c.1159G>A
c.668G>A
c.497G>A
c.72G>A (p.Arg24=)
c.270G>A (p.Arg90=)
n.237G>A
n.242G>A
c.3207G>A (p.Arg1069=)
c.3177G>A (p.Arg1059=)
c.2592G>A (p.Arg864=)
c.3303G>A (p.Arg1101=)
c.2529G>A (p.Arg843=)
c.2496G>A (p.Arg832=)
n.3530G>A
c.2709G>A (p.Arg903=)
n.3524G>A
Xg.53238216C>ACA413146601IQSEC2c.3365G>T (p.Arg1122Leu)
c.1158G>T
c.667G>T
c.496G>T
c.71G>T (p.Arg24Leu)
c.269G>T (p.Arg90Leu)
n.236G>T
n.241G>T
c.3206G>T (p.Arg1069Leu)
c.3176G>T (p.Arg1059Leu)
c.2591G>T (p.Arg864Leu)
c.3302G>T (p.Arg1101Leu)
c.2528G>T (p.Arg843Leu)
c.2495G>T (p.Arg832Leu)
n.3529G>T
c.2708G>T (p.Arg903Leu)
n.3523G>T
Xg.53238216C=CA2429771709IQSEC2c.3365G= (p.Arg1122=)
c.1158G=
c.667G=
c.496G=
c.71G= (p.Arg24=)
c.269G= (p.Arg90=)
n.236G=
n.241G=
c.3206G= (p.Arg1069=)
c.3176G= (p.Arg1059=)
c.2591G= (p.Arg864=)
c.3302G= (p.Arg1101=)
c.2528G= (p.Arg843=)
c.2495G= (p.Arg832=)
n.3529G=
c.2708G= (p.Arg903=)
n.3523G=
Xg.53238216C>GCA413146604IQSEC2c.3365G>C (p.Arg1122Pro)
c.1158G>C
c.667G>C
c.496G>C
c.71G>C (p.Arg24Pro)
c.269G>C (p.Arg90Pro)
n.236G>C
n.241G>C
c.3206G>C (p.Arg1069Pro)
c.3176G>C (p.Arg1059Pro)
c.2591G>C (p.Arg864Pro)
c.3302G>C (p.Arg1101Pro)
c.2528G>C (p.Arg843Pro)
c.2495G>C (p.Arg832Pro)
n.3529G>C
c.2708G>C (p.Arg903Pro)
n.3523G>C
 ClinVar dbSNP
Xg.53238216C>TCA10419835IQSEC2c.3365G>A (p.Arg1122Gln)
c.1158G>A
c.667G>A
c.496G>A
c.71G>A (p.Arg24Gln)
c.269G>A (p.Arg90Gln)
n.236G>A
n.241G>A
c.3206G>A (p.Arg1069Gln)
c.3176G>A (p.Arg1059Gln)
c.2591G>A (p.Arg864Gln)
c.3302G>A (p.Arg1101Gln)
c.2528G>A (p.Arg843Gln)
c.2495G>A (p.Arg832Gln)
n.3529G>A
c.2708G>A (p.Arg903Gln)
n.3523G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53238217G>ACA413146611IQSEC2c.3364C>T (p.Arg1122Trp)
c.1157C>T
c.666C>T
c.495C>T
c.70C>T (p.Arg24Trp)
c.268C>T (p.Arg90Trp)
n.235C>T
n.240C>T
c.3205C>T (p.Arg1069Trp)
c.3175C>T (p.Arg1059Trp)
c.2590C>T (p.Arg864Trp)
c.3301C>T (p.Arg1101Trp)
c.2527C>T (p.Arg843Trp)
c.2494C>T (p.Arg832Trp)
n.3528C>T
c.2707C>T (p.Arg903Trp)
n.3522C>T
Xg.53238217G>CCA413146614IQSEC2c.3364C>G (p.Arg1122Gly)
c.1157C>G
c.666C>G
c.495C>G
c.70C>G (p.Arg24Gly)
c.268C>G (p.Arg90Gly)
n.235C>G
n.240C>G
c.3205C>G (p.Arg1069Gly)
c.3175C>G (p.Arg1059Gly)
c.2590C>G (p.Arg864Gly)
c.3301C>G (p.Arg1101Gly)
c.2527C>G (p.Arg843Gly)
c.2494C>G (p.Arg832Gly)
n.3528C>G
c.2707C>G (p.Arg903Gly)
n.3522C>G
Xg.53238217G=CA2429771710IQSEC2c.3364C= (p.Arg1122=)
c.1157C=
c.666C=
c.495C=
c.70C= (p.Arg24=)
c.268C= (p.Arg90=)
n.235C=
n.240C=
c.3205C= (p.Arg1069=)
c.3175C= (p.Arg1059=)
c.2590C= (p.Arg864=)
c.3301C= (p.Arg1101=)
c.2527C= (p.Arg843=)
c.2494C= (p.Arg832=)
n.3528C=
c.2707C= (p.Arg903=)
n.3522C=
Xg.53238217G>TCA206031IQSEC2c.3364C>A (p.Arg1122=)
c.1157C>A
c.666C>A
c.495C>A
c.70C>A (p.Arg24=)
c.268C>A (p.Arg90=)
n.235C>A
n.240C>A
c.3205C>A (p.Arg1069=)
c.3175C>A (p.Arg1059=)
c.2590C>A (p.Arg864=)
c.3301C>A (p.Arg1101=)
c.2527C>A (p.Arg843=)
c.2494C>A (p.Arg832=)
n.3528C>A
c.2707C>A (p.Arg903=)
n.3522C>A
 ClinVar dbSNP
Xg.53238218G>ACA516421130IQSEC2c.3363C>T (p.Asp1121=)
c.1156C>T
c.665C>T
c.494C>T
c.69C>T (p.Asp23=)
c.267C>T (p.Asp89=)
n.234C>T
n.239C>T
c.3204C>T (p.Asp1068=)
c.3174C>T (p.Asp1058=)
c.2589C>T (p.Asp863=)
c.3300C>T (p.Asp1100=)
c.2526C>T (p.Asp842=)
c.2493C>T (p.Asp831=)
n.3527C>T
c.2706C>T (p.Asp902=)
n.3521C>T
Xg.53238218G>CCA413146621IQSEC2c.3363C>G (p.Asp1121Glu)
c.1156C>G
c.665C>G
c.494C>G
c.69C>G (p.Asp23Glu)
c.267C>G (p.Asp89Glu)
n.234C>G
n.239C>G
c.3204C>G (p.Asp1068Glu)
c.3174C>G (p.Asp1058Glu)
c.2589C>G (p.Asp863Glu)
c.3300C>G (p.Asp1100Glu)
c.2526C>G (p.Asp842Glu)
c.2493C>G (p.Asp831Glu)
n.3527C>G
c.2706C>G (p.Asp902Glu)
n.3521C>G
Xg.53238218G>TCA413146627IQSEC2c.3363C>A (p.Asp1121Glu)
c.1156C>A
c.665C>A
c.494C>A
c.69C>A (p.Asp23Glu)
c.267C>A (p.Asp89Glu)
n.234C>A
n.239C>A
c.3204C>A (p.Asp1068Glu)
c.3174C>A (p.Asp1058Glu)
c.2589C>A (p.Asp863Glu)
c.3300C>A (p.Asp1100Glu)
c.2526C>A (p.Asp842Glu)
c.2493C>A (p.Asp831Glu)
n.3527C>A
c.2706C>A (p.Asp902Glu)
n.3521C>A
Xg.53238219T>ACA413146633IQSEC2c.3362A>T (p.Asp1121Val)
c.1155A>T
c.664A>T
c.493A>T
c.68A>T (p.Asp23Val)
c.266A>T (p.Asp89Val)
n.233A>T
n.238A>T
c.3203A>T (p.Asp1068Val)
c.3173A>T (p.Asp1058Val)
c.2588A>T (p.Asp863Val)
c.3299A>T (p.Asp1100Val)
c.2525A>T (p.Asp842Val)
c.2492A>T (p.Asp831Val)
n.3526A>T
c.2705A>T (p.Asp902Val)
n.3520A>T
Xg.53238219T>CCA413146636IQSEC2c.3362A>G (p.Asp1121Gly)
c.1155A>G
c.664A>G
c.493A>G
c.68A>G (p.Asp23Gly)
c.266A>G (p.Asp89Gly)
n.233A>G
n.238A>G
c.3203A>G (p.Asp1068Gly)
c.3173A>G (p.Asp1058Gly)
c.2588A>G (p.Asp863Gly)
c.3299A>G (p.Asp1100Gly)
c.2525A>G (p.Asp842Gly)
c.2492A>G (p.Asp831Gly)
n.3526A>G
c.2705A>G (p.Asp902Gly)
n.3520A>G
Xg.53238219T>GCA413146638IQSEC2c.3362A>C (p.Asp1121Ala)
c.1155A>C
c.664A>C
c.493A>C
c.68A>C (p.Asp23Ala)
c.266A>C (p.Asp89Ala)
n.233A>C
n.238A>C
c.3203A>C (p.Asp1068Ala)
c.3173A>C (p.Asp1058Ala)
c.2588A>C (p.Asp863Ala)
c.3299A>C (p.Asp1100Ala)
c.2525A>C (p.Asp842Ala)
c.2492A>C (p.Asp831Ala)
n.3526A>C
c.2705A>C (p.Asp902Ala)
n.3520A>C
Xg.53238220C>ACA413146642IQSEC2c.3361G>T (p.Asp1121Tyr)
c.1154G>T
c.663G>T
c.492G>T
c.67G>T (p.Asp23Tyr)
c.265G>T (p.Asp89Tyr)
n.232G>T
n.237G>T
c.3202G>T (p.Asp1068Tyr)
c.3172G>T (p.Asp1058Tyr)
c.2587G>T (p.Asp863Tyr)
c.3298G>T (p.Asp1100Tyr)
c.2524G>T (p.Asp842Tyr)
c.2491G>T (p.Asp831Tyr)
n.3525G>T
c.2704G>T (p.Asp902Tyr)
n.3519G>T
Xg.53238220C>GCA413146645IQSEC2c.3361G>C (p.Asp1121His)
c.1154G>C
c.663G>C
c.492G>C
c.67G>C (p.Asp23His)
c.265G>C (p.Asp89His)
n.232G>C
n.237G>C
c.3202G>C (p.Asp1068His)
c.3172G>C (p.Asp1058His)
c.2587G>C (p.Asp863His)
c.3298G>C (p.Asp1100His)
c.2524G>C (p.Asp842His)
c.2491G>C (p.Asp831His)
n.3525G>C
c.2704G>C (p.Asp902His)
n.3519G>C
Xg.53238220C>TCA413146649IQSEC2c.3361G>A (p.Asp1121Asn)
c.1154G>A
c.663G>A
c.492G>A
c.67G>A (p.Asp23Asn)
c.265G>A (p.Asp89Asn)
n.232G>A
n.237G>A
c.3202G>A (p.Asp1068Asn)
c.3172G>A (p.Asp1058Asn)
c.2587G>A (p.Asp863Asn)
c.3298G>A (p.Asp1100Asn)
c.2524G>A (p.Asp842Asn)
c.2491G>A (p.Asp831Asn)
n.3525G>A
c.2704G>A (p.Asp902Asn)
n.3519G>A
Xg.53238221C>ACA413146654IQSEC2c.3360G>T (p.Gln1120His)
c.1153G>T
c.662G>T
c.491G>T
c.66G>T (p.Gln22His)
c.264G>T (p.Gln88His)
n.231G>T
n.236G>T
c.3201G>T (p.Gln1067His)
c.3171G>T (p.Gln1057His)
c.2586G>T (p.Gln862His)
c.3297G>T (p.Gln1099His)
c.2523G>T (p.Gln841His)
c.2490G>T (p.Gln830His)
n.3524G>T
c.2703G>T (p.Gln901His)
n.3518G>T
Xg.53238221C=CA2429771711IQSEC2c.3360G= (p.Gln1120=)
c.1153G=
c.662G=
c.491G=
c.66G= (p.Gln22=)
c.264G= (p.Gln88=)
n.231G=
n.236G=
c.3201G= (p.Gln1067=)
c.3171G= (p.Gln1057=)
c.2586G= (p.Gln862=)
c.3297G= (p.Gln1099=)
c.2523G= (p.Gln841=)
c.2490G= (p.Gln830=)
n.3524G=
c.2703G= (p.Gln901=)
n.3518G=
Xg.53238221C>GCA413146656IQSEC2c.3360G>C (p.Gln1120His)
c.1153G>C
c.662G>C
c.491G>C
c.66G>C (p.Gln22His)
c.264G>C (p.Gln88His)
n.231G>C
n.236G>C
c.3201G>C (p.Gln1067His)
c.3171G>C (p.Gln1057His)
c.2586G>C (p.Gln862His)
c.3297G>C (p.Gln1099His)
c.2523G>C (p.Gln841His)
c.2490G>C (p.Gln830His)
n.3524G>C
c.2703G>C (p.Gln901His)
n.3518G>C
Xg.53238221C>TCA516421158IQSEC2c.3360G>A (p.Gln1120=)
c.1153G>A
c.662G>A
c.491G>A
c.66G>A (p.Gln22=)
c.264G>A (p.Gln88=)
n.231G>A
n.236G>A
c.3201G>A (p.Gln1067=)
c.3171G>A (p.Gln1057=)
c.2586G>A (p.Gln862=)
c.3297G>A (p.Gln1099=)
c.2523G>A (p.Gln841=)
c.2490G>A (p.Gln830=)
n.3524G>A
c.2703G>A (p.Gln901=)
n.3518G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238222T>ACA413146660IQSEC2c.3359A>T (p.Gln1120Leu)
c.1152A>T
c.661A>T
c.490A>T
c.65A>T (p.Gln22Leu)
c.263A>T (p.Gln88Leu)
n.230A>T
n.235A>T
c.3200A>T (p.Gln1067Leu)
c.3170A>T (p.Gln1057Leu)
c.2585A>T (p.Gln862Leu)
c.3296A>T (p.Gln1099Leu)
c.2522A>T (p.Gln841Leu)
c.2489A>T (p.Gln830Leu)
n.3523A>T
c.2702A>T (p.Gln901Leu)
n.3517A>T
Xg.53238222T>CCA413146661IQSEC2c.3359A>G (p.Gln1120Arg)
c.1152A>G
c.661A>G
c.490A>G
c.65A>G (p.Gln22Arg)
c.263A>G (p.Gln88Arg)
n.230A>G
n.235A>G
c.3200A>G (p.Gln1067Arg)
c.3170A>G (p.Gln1057Arg)
c.2585A>G (p.Gln862Arg)
c.3296A>G (p.Gln1099Arg)
c.2522A>G (p.Gln841Arg)
c.2489A>G (p.Gln830Arg)
n.3523A>G
c.2702A>G (p.Gln901Arg)
n.3517A>G
Xg.53238222T>GCA413146664IQSEC2c.3359A>C (p.Gln1120Pro)
c.1152A>C
c.661A>C
c.490A>C
c.65A>C (p.Gln22Pro)
c.263A>C (p.Gln88Pro)
n.230A>C
n.235A>C
c.3200A>C (p.Gln1067Pro)
c.3170A>C (p.Gln1057Pro)
c.2585A>C (p.Gln862Pro)
c.3296A>C (p.Gln1099Pro)
c.2522A>C (p.Gln841Pro)
c.2489A>C (p.Gln830Pro)
n.3523A>C
c.2702A>C (p.Gln901Pro)
n.3517A>C
Xg.53238223G>ACA413146668IQSEC2c.3358C>T (p.Gln1120Ter)
c.1151C>T
c.660C>T
c.489C>T
c.64C>T (p.Gln22Ter)
c.262C>T (p.Gln88Ter)
n.229C>T
n.234C>T
c.3199C>T (p.Gln1067Ter)
c.3169C>T (p.Gln1057Ter)
c.2584C>T (p.Gln862Ter)
c.3295C>T (p.Gln1099Ter)
c.2521C>T (p.Gln841Ter)
c.2488C>T (p.Gln830Ter)
n.3522C>T
c.2701C>T (p.Gln901Ter)
n.3516C>T
Xg.53238223G>CCA413146674IQSEC2c.3358C>G (p.Gln1120Glu)
c.1151C>G
c.660C>G
c.489C>G
c.64C>G (p.Gln22Glu)
c.262C>G (p.Gln88Glu)
n.229C>G
n.234C>G
c.3199C>G (p.Gln1067Glu)
c.3169C>G (p.Gln1057Glu)
c.2584C>G (p.Gln862Glu)
c.3295C>G (p.Gln1099Glu)
c.2521C>G (p.Gln841Glu)
c.2488C>G (p.Gln830Glu)
n.3522C>G
c.2701C>G (p.Gln901Glu)
n.3516C>G
Xg.53238223G>TCA413146671IQSEC2c.3358C>A (p.Gln1120Lys)
c.1151C>A
c.660C>A
c.489C>A
c.64C>A (p.Gln22Lys)
c.262C>A (p.Gln88Lys)
n.229C>A
n.234C>A
c.3199C>A (p.Gln1067Lys)
c.3169C>A (p.Gln1057Lys)
c.2584C>A (p.Gln862Lys)
c.3295C>A (p.Gln1099Lys)
c.2521C>A (p.Gln841Lys)
c.2488C>A (p.Gln830Lys)
n.3522C>A
c.2701C>A (p.Gln901Lys)
n.3516C>A
Xg.53238224G>ACA516422169IQSEC2c.3357C>T (p.Leu1119=)
c.1150C>T
c.659C>T
c.488C>T
c.63C>T (p.Leu21=)
c.261C>T (p.Leu87=)
n.228C>T
n.233C>T
c.3198C>T (p.Leu1066=)
c.3168C>T (p.Leu1056=)
c.2583C>T (p.Leu861=)
c.3294C>T (p.Leu1098=)
c.2520C>T (p.Leu840=)
c.2487C>T (p.Leu829=)
n.3521C>T
c.2700C>T (p.Leu900=)
n.3515C>T
Xg.53238224G>CCA516422171IQSEC2c.3357C>G (p.Leu1119=)
c.1150C>G
c.659C>G
c.488C>G
c.63C>G (p.Leu21=)
c.261C>G (p.Leu87=)
n.228C>G
n.233C>G
c.3198C>G (p.Leu1066=)
c.3168C>G (p.Leu1056=)
c.2583C>G (p.Leu861=)
c.3294C>G (p.Leu1098=)
c.2520C>G (p.Leu840=)
c.2487C>G (p.Leu829=)
n.3521C>G
c.2700C>G (p.Leu900=)
n.3515C>G
Xg.53238224G>TCA516422173IQSEC2c.3357C>A (p.Leu1119=)
c.1150C>A
c.659C>A
c.488C>A
c.63C>A (p.Leu21=)
c.261C>A (p.Leu87=)
n.228C>A
n.233C>A
c.3198C>A (p.Leu1066=)
c.3168C>A (p.Leu1056=)
c.2583C>A (p.Leu861=)
c.3294C>A (p.Leu1098=)
c.2520C>A (p.Leu840=)
c.2487C>A (p.Leu829=)
n.3521C>A
c.2700C>A (p.Leu900=)
n.3515C>A
Xg.53238225A>CCA413146679IQSEC2c.3356T>G (p.Leu1119Arg)
c.1149T>G
c.658T>G
c.487T>G
c.62T>G (p.Leu21Arg)
c.260T>G (p.Leu87Arg)
n.227T>G
n.232T>G
c.3197T>G (p.Leu1066Arg)
c.3167T>G (p.Leu1056Arg)
c.2582T>G (p.Leu861Arg)
c.3293T>G (p.Leu1098Arg)
c.2519T>G (p.Leu840Arg)
c.2486T>G (p.Leu829Arg)
n.3520T>G
c.2699T>G (p.Leu900Arg)
n.3514T>G
Xg.53238225A>GCA413146684IQSEC2c.3356T>C (p.Leu1119Pro)
c.1149T>C
c.658T>C
c.487T>C
c.62T>C (p.Leu21Pro)
c.260T>C (p.Leu87Pro)
n.227T>C
n.232T>C
c.3197T>C (p.Leu1066Pro)
c.3167T>C (p.Leu1056Pro)
c.2582T>C (p.Leu861Pro)
c.3293T>C (p.Leu1098Pro)
c.2519T>C (p.Leu840Pro)
c.2486T>C (p.Leu829Pro)
n.3520T>C
c.2699T>C (p.Leu900Pro)
n.3514T>C
Xg.53238225A>TCA413146681IQSEC2c.3356T>A (p.Leu1119His)
c.1149T>A
c.658T>A
c.487T>A
c.62T>A (p.Leu21His)
c.260T>A (p.Leu87His)
n.227T>A
n.232T>A
c.3197T>A (p.Leu1066His)
c.3167T>A (p.Leu1056His)
c.2582T>A (p.Leu861His)
c.3293T>A (p.Leu1098His)
c.2519T>A (p.Leu840His)
c.2486T>A (p.Leu829His)
n.3520T>A
c.2699T>A (p.Leu900His)
n.3514T>A
Xg.53238226G>ACA413146688IQSEC2c.3355C>T (p.Leu1119Phe)
c.1148C>T
c.657C>T
c.486C>T
c.61C>T (p.Leu21Phe)
c.259C>T (p.Leu87Phe)
n.226C>T
n.231C>T
c.3196C>T (p.Leu1066Phe)
c.3166C>T (p.Leu1056Phe)
c.2581C>T (p.Leu861Phe)
c.3292C>T (p.Leu1098Phe)
c.2518C>T (p.Leu840Phe)
c.2485C>T (p.Leu829Phe)
n.3519C>T
c.2698C>T (p.Leu900Phe)
n.3513C>T
Xg.53238226G>CCA413146693IQSEC2c.3355C>G (p.Leu1119Val)
c.1148C>G
c.657C>G
c.486C>G
c.61C>G (p.Leu21Val)
c.259C>G (p.Leu87Val)
n.226C>G
n.231C>G
c.3196C>G (p.Leu1066Val)
c.3166C>G (p.Leu1056Val)
c.2581C>G (p.Leu861Val)
c.3292C>G (p.Leu1098Val)
c.2518C>G (p.Leu840Val)
c.2485C>G (p.Leu829Val)
n.3519C>G
c.2698C>G (p.Leu900Val)
n.3513C>G
Xg.53238226G>TCA413146691IQSEC2c.3355C>A (p.Leu1119Ile)
c.1148C>A
c.657C>A
c.486C>A
c.61C>A (p.Leu21Ile)
c.259C>A (p.Leu87Ile)
n.226C>A
n.231C>A
c.3196C>A (p.Leu1066Ile)
c.3166C>A (p.Leu1056Ile)
c.2581C>A (p.Leu861Ile)
c.3292C>A (p.Leu1098Ile)
c.2518C>A (p.Leu840Ile)
c.2485C>A (p.Leu829Ile)
n.3519C>A
c.2698C>A (p.Leu900Ile)
n.3513C>A
Xg.53238227G>ACA516422190IQSEC2c.3354C>T (p.Ser1118=)
c.1147C>T
c.656C>T
c.485C>T
c.60C>T (p.Ser20=)
c.258C>T (p.Ser86=)
n.225C>T
n.230C>T
c.3195C>T (p.Ser1065=)
c.3165C>T (p.Ser1055=)
c.2580C>T (p.Ser860=)
c.3291C>T (p.Ser1097=)
c.2517C>T (p.Ser839=)
c.2484C>T (p.Ser828=)
n.3518C>T
c.2697C>T (p.Ser899=)
n.3512C>T
Xg.53238227G>CCA413146696IQSEC2c.3354C>G (p.Ser1118Arg)
c.1147C>G
c.656C>G
c.485C>G
c.60C>G (p.Ser20Arg)
c.258C>G (p.Ser86Arg)
n.225C>G
n.230C>G
c.3195C>G (p.Ser1065Arg)
c.3165C>G (p.Ser1055Arg)
c.2580C>G (p.Ser860Arg)
c.3291C>G (p.Ser1097Arg)
c.2517C>G (p.Ser839Arg)
c.2484C>G (p.Ser828Arg)
n.3518C>G
c.2697C>G (p.Ser899Arg)
n.3512C>G
Xg.53238227G>TCA413146698IQSEC2c.3354C>A (p.Ser1118Arg)
c.1147C>A
c.656C>A
c.485C>A
c.60C>A (p.Ser20Arg)
c.258C>A (p.Ser86Arg)
n.225C>A
n.230C>A
c.3195C>A (p.Ser1065Arg)
c.3165C>A (p.Ser1055Arg)
c.2580C>A (p.Ser860Arg)
c.3291C>A (p.Ser1097Arg)
c.2517C>A (p.Ser839Arg)
c.2484C>A (p.Ser828Arg)
n.3518C>A
c.2697C>A (p.Ser899Arg)
n.3512C>A
Xg.53238228C>ACA413146699IQSEC2c.3353G>T (p.Ser1118Ile)
c.1146G>T
c.655G>T
c.484G>T
c.59G>T (p.Ser20Ile)
c.257G>T (p.Ser86Ile)
n.224G>T
n.229G>T
c.3194G>T (p.Ser1065Ile)
c.3164G>T (p.Ser1055Ile)
c.2579G>T (p.Ser860Ile)
c.3290G>T (p.Ser1097Ile)
c.2516G>T (p.Ser839Ile)
c.2483G>T (p.Ser828Ile)
n.3517G>T
c.2696G>T (p.Ser899Ile)
n.3511G>T
Xg.53238228C>GCA413146700IQSEC2c.3353G>C (p.Ser1118Thr)
c.1146G>C
c.655G>C
c.484G>C
c.59G>C (p.Ser20Thr)
c.257G>C (p.Ser86Thr)
n.224G>C
n.229G>C
c.3194G>C (p.Ser1065Thr)
c.3164G>C (p.Ser1055Thr)
c.2579G>C (p.Ser860Thr)
c.3290G>C (p.Ser1097Thr)
c.2516G>C (p.Ser839Thr)
c.2483G>C (p.Ser828Thr)
n.3517G>C
c.2696G>C (p.Ser899Thr)
n.3511G>C
Xg.53238228C>TCA413146702IQSEC2c.3353G>A (p.Ser1118Asn)
c.1146G>A
c.655G>A
c.484G>A
c.59G>A (p.Ser20Asn)
c.257G>A (p.Ser86Asn)
n.224G>A
n.229G>A
c.3194G>A (p.Ser1065Asn)
c.3164G>A (p.Ser1055Asn)
c.2579G>A (p.Ser860Asn)
c.3290G>A (p.Ser1097Asn)
c.2516G>A (p.Ser839Asn)
c.2483G>A (p.Ser828Asn)
n.3517G>A
c.2696G>A (p.Ser899Asn)
n.3511G>A
Xg.53238229T>ACA413146705IQSEC2c.3352A>T (p.Ser1118Cys)
c.1145A>T
c.654A>T
c.483A>T
c.58A>T (p.Ser20Cys)
c.256A>T (p.Ser86Cys)
n.223A>T
n.228A>T
c.3193A>T (p.Ser1065Cys)
c.3163A>T (p.Ser1055Cys)
c.2578A>T (p.Ser860Cys)
c.3289A>T (p.Ser1097Cys)
c.2515A>T (p.Ser839Cys)
c.2482A>T (p.Ser828Cys)
n.3516A>T
c.2695A>T (p.Ser899Cys)
n.3510A>T
Xg.53238229T>CCA329163034IQSEC2c.3352A>G (p.Ser1118Gly)
c.1145A>G
c.654A>G
c.483A>G
c.58A>G (p.Ser20Gly)
c.256A>G (p.Ser86Gly)
n.223A>G
n.228A>G
c.3193A>G (p.Ser1065Gly)
c.3163A>G (p.Ser1055Gly)
c.2578A>G (p.Ser860Gly)
c.3289A>G (p.Ser1097Gly)
c.2515A>G (p.Ser839Gly)
c.2482A>G (p.Ser828Gly)
n.3516A>G
c.2695A>G (p.Ser899Gly)
n.3510A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53238229T>GCA413146710IQSEC2c.3352A>C (p.Ser1118Arg)
c.1145A>C
c.654A>C
c.483A>C
c.58A>C (p.Ser20Arg)
c.256A>C (p.Ser86Arg)
n.223A>C
n.228A>C
c.3193A>C (p.Ser1065Arg)
c.3163A>C (p.Ser1055Arg)
c.2578A>C (p.Ser860Arg)
c.3289A>C (p.Ser1097Arg)
c.2515A>C (p.Ser839Arg)
c.2482A>C (p.Ser828Arg)
n.3516A>C
c.2695A>C (p.Ser899Arg)
n.3510A>C
Xg.53238229T=CA2429771712IQSEC2c.3352A= (p.Ser1118=)
c.1145A=
c.654A=
c.483A=
c.58A= (p.Ser20=)
c.256A= (p.Ser86=)
n.223A=
n.228A=
c.3193A= (p.Ser1065=)
c.3163A= (p.Ser1055=)
c.2578A= (p.Ser860=)
c.3289A= (p.Ser1097=)
c.2515A= (p.Ser839=)
c.2482A= (p.Ser828=)
n.3516A=
c.2695A= (p.Ser899=)
n.3510A=
Xg.53238230G>ACA516422218IQSEC2c.3351C>T (p.Pro1117=)
c.1144C>T
c.653C>T
c.482C>T
c.57C>T (p.Pro19=)
c.255C>T (p.Pro85=)
n.222C>T
n.227C>T
c.3192C>T (p.Pro1064=)
c.3162C>T (p.Pro1054=)
c.2577C>T (p.Pro859=)
c.3288C>T (p.Pro1096=)
c.2514C>T (p.Pro838=)
c.2481C>T (p.Pro827=)
n.3515C>T
c.2694C>T (p.Pro898=)
n.3509C>T
 gnomAD v4
Xg.53238230G>CCA516422220IQSEC2c.3351C>G (p.Pro1117=)
c.1144C>G
c.653C>G
c.482C>G
c.57C>G (p.Pro19=)
c.255C>G (p.Pro85=)
n.222C>G
n.227C>G
c.3192C>G (p.Pro1064=)
c.3162C>G (p.Pro1054=)
c.2577C>G (p.Pro859=)
c.3288C>G (p.Pro1096=)
c.2514C>G (p.Pro838=)
c.2481C>G (p.Pro827=)
n.3515C>G
c.2694C>G (p.Pro898=)
n.3509C>G
Xg.53238230G>TCA516422222IQSEC2c.3351C>A (p.Pro1117=)
c.1144C>A
c.653C>A
c.482C>A
c.57C>A (p.Pro19=)
c.255C>A (p.Pro85=)
n.222C>A
n.227C>A
c.3192C>A (p.Pro1064=)
c.3162C>A (p.Pro1054=)
c.2577C>A (p.Pro859=)
c.3288C>A (p.Pro1096=)
c.2514C>A (p.Pro838=)
c.2481C>A (p.Pro827=)
n.3515C>A
c.2694C>A (p.Pro898=)
n.3509C>A
Xg.53238234dupCA2820950515IQSEC2c.3351dup (p.Ser1118GlnfsTer?)
c.1144dup
c.653dup
c.482dup
c.57dup (p.Ser20GlnfsTer?)
c.255dup (p.Ser86GlnfsTer?)
n.222dup
n.227dup
c.3192dup (p.Ser1065GlnfsTer?)
c.3162dup (p.Ser1055GlnfsTer?)
c.2577dup (p.Ser860GlnfsTer?)
c.3288dup (p.Ser1097GlnfsTer?)
c.2514dup (p.Ser839GlnfsTer?)
c.2481dup (p.Ser828GlnfsTer?)
n.3515dup
c.2694dup (p.Ser899GlnfsTer?)
n.3509dup
Xg.53238231G>ACA413146714IQSEC2c.3350C>T (p.Pro1117Leu)
c.1143C>T
c.652C>T
c.481C>T
c.56C>T (p.Pro19Leu)
c.254C>T (p.Pro85Leu)
n.221C>T
n.226C>T
c.3191C>T (p.Pro1064Leu)
c.3161C>T (p.Pro1054Leu)
c.2576C>T (p.Pro859Leu)
c.3287C>T (p.Pro1096Leu)
c.2513C>T (p.Pro838Leu)
c.2480C>T (p.Pro827Leu)
n.3514C>T
c.2693C>T (p.Pro898Leu)
n.3508C>T
Xg.53238231G>CCA413146716IQSEC2c.3350C>G (p.Pro1117Arg)
c.1143C>G
c.652C>G
c.481C>G
c.56C>G (p.Pro19Arg)
c.254C>G (p.Pro85Arg)
n.221C>G
n.226C>G
c.3191C>G (p.Pro1064Arg)
c.3161C>G (p.Pro1054Arg)
c.2576C>G (p.Pro859Arg)
c.3287C>G (p.Pro1096Arg)
c.2513C>G (p.Pro838Arg)
c.2480C>G (p.Pro827Arg)
n.3514C>G
c.2693C>G (p.Pro898Arg)
n.3508C>G
Xg.53238231G>TCA413146718IQSEC2c.3350C>A (p.Pro1117His)
c.1143C>A
c.652C>A
c.481C>A
c.56C>A (p.Pro19His)
c.254C>A (p.Pro85His)
n.221C>A
n.226C>A
c.3191C>A (p.Pro1064His)
c.3161C>A (p.Pro1054His)
c.2576C>A (p.Pro859His)
c.3287C>A (p.Pro1096His)
c.2513C>A (p.Pro838His)
c.2480C>A (p.Pro827His)
n.3514C>A
c.2693C>A (p.Pro898His)
n.3508C>A
Xg.53238232G>ACA413146723IQSEC2c.3349C>T (p.Pro1117Ser)
c.1142C>T
c.651C>T
c.480C>T
c.55C>T (p.Pro19Ser)
c.253C>T (p.Pro85Ser)
n.220C>T
n.225C>T
c.3190C>T (p.Pro1064Ser)
c.3160C>T (p.Pro1054Ser)
c.2575C>T (p.Pro859Ser)
c.3286C>T (p.Pro1096Ser)
c.2512C>T (p.Pro838Ser)
c.2479C>T (p.Pro827Ser)
n.3513C>T
c.2692C>T (p.Pro898Ser)
n.3507C>T
 gnomAD v4
Xg.53238232G>CCA413146726IQSEC2c.3349C>G (p.Pro1117Ala)
c.1142C>G
c.651C>G
c.480C>G
c.55C>G (p.Pro19Ala)
c.253C>G (p.Pro85Ala)
n.220C>G
n.225C>G
c.3190C>G (p.Pro1064Ala)
c.3160C>G (p.Pro1054Ala)
c.2575C>G (p.Pro859Ala)
c.3286C>G (p.Pro1096Ala)
c.2512C>G (p.Pro838Ala)
c.2479C>G (p.Pro827Ala)
n.3513C>G
c.2692C>G (p.Pro898Ala)
n.3507C>G
Xg.53238232G>TCA413146729IQSEC2c.3349C>A (p.Pro1117Thr)
c.1142C>A
c.651C>A
c.480C>A
c.55C>A (p.Pro19Thr)
c.253C>A (p.Pro85Thr)
n.220C>A
n.225C>A
c.3190C>A (p.Pro1064Thr)
c.3160C>A (p.Pro1054Thr)
c.2575C>A (p.Pro859Thr)
c.3286C>A (p.Pro1096Thr)
c.2512C>A (p.Pro838Thr)
c.2479C>A (p.Pro827Thr)
n.3513C>A
c.2692C>A (p.Pro898Thr)
n.3507C>A
Xg.53238233G>ACA516422240IQSEC2c.3348C>T (p.Ala1116=)
c.1141C>T
c.650C>T
c.479C>T
c.54C>T (p.Ala18=)
c.252C>T (p.Ala84=)
n.219C>T
n.224C>T
c.3189C>T (p.Ala1063=)
c.3159C>T (p.Ala1053=)
c.2574C>T (p.Ala858=)
c.3285C>T (p.Ala1095=)
c.2511C>T (p.Ala837=)
c.2478C>T (p.Ala826=)
n.3512C>T
c.2691C>T (p.Ala897=)
n.3506C>T
Xg.53238233G>CCA516422242IQSEC2c.3348C>G (p.Ala1116=)
c.1141C>G
c.650C>G
c.479C>G
c.54C>G (p.Ala18=)
c.252C>G (p.Ala84=)
n.219C>G
n.224C>G
c.3189C>G (p.Ala1063=)
c.3159C>G (p.Ala1053=)
c.2574C>G (p.Ala858=)
c.3285C>G (p.Ala1095=)
c.2511C>G (p.Ala837=)
c.2478C>G (p.Ala826=)
n.3512C>G
c.2691C>G (p.Ala897=)
n.3506C>G
Xg.53238233G>TCA516422244IQSEC2c.3348C>A (p.Ala1116=)
c.1141C>A
c.650C>A
c.479C>A
c.54C>A (p.Ala18=)
c.252C>A (p.Ala84=)
n.219C>A
n.224C>A
c.3189C>A (p.Ala1063=)
c.3159C>A (p.Ala1053=)
c.2574C>A (p.Ala858=)
c.3285C>A (p.Ala1095=)
c.2511C>A (p.Ala837=)
c.2478C>A (p.Ala826=)
n.3512C>A
c.2691C>A (p.Ala897=)
n.3506C>A
Xg.53238234G>ACA413146737IQSEC2c.3347C>T (p.Ala1116Val)
c.1140C>T
c.649C>T
c.478C>T
c.53C>T (p.Ala18Val)
c.251C>T (p.Ala84Val)
n.218C>T
n.223C>T
c.3188C>T (p.Ala1063Val)
c.3158C>T (p.Ala1053Val)
c.2573C>T (p.Ala858Val)
c.3284C>T (p.Ala1095Val)
c.2510C>T (p.Ala837Val)
c.2477C>T (p.Ala826Val)
n.3511C>T
c.2690C>T (p.Ala897Val)
n.3505C>T
 ClinVar dbSNP
Xg.53238234G>CCA413146732IQSEC2c.3347C>G (p.Ala1116Gly)
c.1140C>G
c.649C>G
c.478C>G
c.53C>G (p.Ala18Gly)
c.251C>G (p.Ala84Gly)
n.218C>G
n.223C>G
c.3188C>G (p.Ala1063Gly)
c.3158C>G (p.Ala1053Gly)
c.2573C>G (p.Ala858Gly)
c.3284C>G (p.Ala1095Gly)
c.2510C>G (p.Ala837Gly)
c.2477C>G (p.Ala826Gly)
n.3511C>G
c.2690C>G (p.Ala897Gly)
n.3505C>G
Xg.53238234G=CA2429771713IQSEC2c.3347C= (p.Ala1116=)
c.1140C=
c.649C=
c.478C=
c.53C= (p.Ala18=)
c.251C= (p.Ala84=)
n.218C=
n.223C=
c.3188C= (p.Ala1063=)
c.3158C= (p.Ala1053=)
c.2573C= (p.Ala858=)
c.3284C= (p.Ala1095=)
c.2510C= (p.Ala837=)
c.2477C= (p.Ala826=)
n.3511C=
c.2690C= (p.Ala897=)
n.3505C=
Xg.53238234G>TCA413146734IQSEC2c.3347C>A (p.Ala1116Asp)
c.1140C>A
c.649C>A
c.478C>A
c.53C>A (p.Ala18Asp)
c.251C>A (p.Ala84Asp)
n.218C>A
n.223C>A
c.3188C>A (p.Ala1063Asp)
c.3158C>A (p.Ala1053Asp)
c.2573C>A (p.Ala858Asp)
c.3284C>A (p.Ala1095Asp)
c.2510C>A (p.Ala837Asp)
c.2477C>A (p.Ala826Asp)
n.3511C>A
c.2690C>A (p.Ala897Asp)
n.3505C>A
Xg.53238235C>ACA413146741IQSEC2c.3346G>T (p.Ala1116Ser)
c.1139G>T
c.648G>T
c.477G>T
c.52G>T (p.Ala18Ser)
c.250G>T (p.Ala84Ser)
n.217G>T
n.222G>T
c.3187G>T (p.Ala1063Ser)
c.3157G>T (p.Ala1053Ser)
c.2572G>T (p.Ala858Ser)
c.3283G>T (p.Ala1095Ser)
c.2509G>T (p.Ala837Ser)
c.2476G>T (p.Ala826Ser)
n.3510G>T
c.2689G>T (p.Ala897Ser)
n.3504G>T
Xg.53238235C>GCA413146743IQSEC2c.3346G>C (p.Ala1116Pro)
c.1139G>C
c.648G>C
c.477G>C
c.52G>C (p.Ala18Pro)
c.250G>C (p.Ala84Pro)
n.217G>C
n.222G>C
c.3187G>C (p.Ala1063Pro)
c.3157G>C (p.Ala1053Pro)
c.2572G>C (p.Ala858Pro)
c.3283G>C (p.Ala1095Pro)
c.2509G>C (p.Ala837Pro)
c.2476G>C (p.Ala826Pro)
n.3510G>C
c.2689G>C (p.Ala897Pro)
n.3504G>C
Xg.53238235C>TCA413146746IQSEC2c.3346G>A (p.Ala1116Thr)
c.1139G>A
c.648G>A
c.477G>A
c.52G>A (p.Ala18Thr)
c.250G>A (p.Ala84Thr)
n.217G>A
n.222G>A
c.3187G>A (p.Ala1063Thr)
c.3157G>A (p.Ala1053Thr)
c.2572G>A (p.Ala858Thr)
c.3283G>A (p.Ala1095Thr)
c.2509G>A (p.Ala837Thr)
c.2476G>A (p.Ala826Thr)
n.3510G>A
c.2689G>A (p.Ala897Thr)
n.3504G>A
Xg.53238236A>CCA413146751IQSEC2c.3345T>G (p.Asn1115Lys)
c.1138T>G
c.647T>G
c.476T>G
c.51T>G (p.Asn17Lys)
c.249T>G (p.Asn83Lys)
n.216T>G
n.221T>G
c.3186T>G (p.Asn1062Lys)
c.3156T>G (p.Asn1052Lys)
c.2571T>G (p.Asn857Lys)
c.3282T>G (p.Asn1094Lys)
c.2508T>G (p.Asn836Lys)
c.2475T>G (p.Asn825Lys)
n.3509T>G
c.2688T>G (p.Asn896Lys)
n.3503T>G
Xg.53238236A>GCA516422270IQSEC2c.3345T>C (p.Asn1115=)
c.1138T>C
c.647T>C
c.476T>C
c.51T>C (p.Asn17=)
c.249T>C (p.Asn83=)
n.216T>C
n.221T>C
c.3186T>C (p.Asn1062=)
c.3156T>C (p.Asn1052=)
c.2571T>C (p.Asn857=)
c.3282T>C (p.Asn1094=)
c.2508T>C (p.Asn836=)
c.2475T>C (p.Asn825=)
n.3509T>C
c.2688T>C (p.Asn896=)
n.3503T>C
Xg.53238236A>TCA413146760IQSEC2c.3345T>A (p.Asn1115Lys)
c.1138T>A
c.647T>A
c.476T>A
c.51T>A (p.Asn17Lys)
c.249T>A (p.Asn83Lys)
n.216T>A
n.221T>A
c.3186T>A (p.Asn1062Lys)
c.3156T>A (p.Asn1052Lys)
c.2571T>A (p.Asn857Lys)
c.3282T>A (p.Asn1094Lys)
c.2508T>A (p.Asn836Lys)
c.2475T>A (p.Asn825Lys)
n.3509T>A
c.2688T>A (p.Asn896Lys)
n.3503T>A
Xg.53238237T>ACA413146764IQSEC2c.3344A>T (p.Asn1115Ile)
c.1137A>T
c.646A>T
c.475A>T
c.50A>T (p.Asn17Ile)
c.248A>T (p.Asn83Ile)
n.215A>T
n.220A>T
c.3185A>T (p.Asn1062Ile)
c.3155A>T (p.Asn1052Ile)
c.2570A>T (p.Asn857Ile)
c.3281A>T (p.Asn1094Ile)
c.2507A>T (p.Asn836Ile)
c.2474A>T (p.Asn825Ile)
n.3508A>T
c.2687A>T (p.Asn896Ile)
n.3502A>T
Xg.53238237T>CCA413146767IQSEC2c.3344A>G (p.Asn1115Ser)
c.1137A>G
c.646A>G
c.475A>G
c.50A>G (p.Asn17Ser)
c.248A>G (p.Asn83Ser)
n.215A>G
n.220A>G
c.3185A>G (p.Asn1062Ser)
c.3155A>G (p.Asn1052Ser)
c.2570A>G (p.Asn857Ser)
c.3281A>G (p.Asn1094Ser)
c.2507A>G (p.Asn836Ser)
c.2474A>G (p.Asn825Ser)
n.3508A>G
c.2687A>G (p.Asn896Ser)
n.3502A>G
 dbSNP
Xg.53238237T>GCA413146771IQSEC2c.3344A>C (p.Asn1115Thr)
c.1137A>C
c.646A>C
c.475A>C
c.50A>C (p.Asn17Thr)
c.248A>C (p.Asn83Thr)
n.215A>C
n.220A>C
c.3185A>C (p.Asn1062Thr)
c.3155A>C (p.Asn1052Thr)
c.2570A>C (p.Asn857Thr)
c.3281A>C (p.Asn1094Thr)
c.2507A>C (p.Asn836Thr)
c.2474A>C (p.Asn825Thr)
n.3508A>C
c.2687A>C (p.Asn896Thr)
n.3502A>C
Xg.53238238T>ACA413146777IQSEC2c.3343A>T (p.Asn1115Tyr)
c.1136A>T
c.645A>T
c.474A>T
c.49A>T (p.Asn17Tyr)
c.247A>T (p.Asn83Tyr)
n.214A>T
n.219A>T
c.3184A>T (p.Asn1062Tyr)
c.3154A>T (p.Asn1052Tyr)
c.2569A>T (p.Asn857Tyr)
c.3280A>T (p.Asn1094Tyr)
c.2506A>T (p.Asn836Tyr)
c.2473A>T (p.Asn825Tyr)
n.3507A>T
c.2686A>T (p.Asn896Tyr)
n.3501A>T
Xg.53238238T>CCA413146779IQSEC2c.3343A>G (p.Asn1115Asp)
c.1136A>G
c.645A>G
c.474A>G
c.49A>G (p.Asn17Asp)
c.247A>G (p.Asn83Asp)
n.214A>G
n.219A>G
c.3184A>G (p.Asn1062Asp)
c.3154A>G (p.Asn1052Asp)
c.2569A>G (p.Asn857Asp)
c.3280A>G (p.Asn1094Asp)
c.2506A>G (p.Asn836Asp)
c.2473A>G (p.Asn825Asp)
n.3507A>G
c.2686A>G (p.Asn896Asp)
n.3501A>G
Xg.53238238T>GCA413146780IQSEC2c.3343A>C (p.Asn1115His)
c.1136A>C
c.645A>C
c.474A>C
c.49A>C (p.Asn17His)
c.247A>C (p.Asn83His)
n.214A>C
n.219A>C
c.3184A>C (p.Asn1062His)
c.3154A>C (p.Asn1052His)
c.2569A>C (p.Asn857His)
c.3280A>C (p.Asn1094His)
c.2506A>C (p.Asn836His)
c.2473A>C (p.Asn825His)
n.3507A>C
c.2686A>C (p.Asn896His)
n.3501A>C
Xg.53238239G>ACA516422288IQSEC2c.3342C>T (p.Phe1114=)
c.1135C>T
c.644C>T
c.473C>T
c.48C>T (p.Phe16=)
c.246C>T (p.Phe82=)
n.213C>T
n.218C>T
c.3183C>T (p.Phe1061=)
c.3153C>T (p.Phe1051=)
c.2568C>T (p.Phe856=)
c.3279C>T (p.Phe1093=)
c.2505C>T (p.Phe835=)
c.2472C>T (p.Phe824=)
n.3506C>T
c.2685C>T (p.Phe895=)
n.3500C>T
Xg.53238239G>CCA413146786IQSEC2c.3342C>G (p.Phe1114Leu)
c.1135C>G
c.644C>G
c.473C>G
c.48C>G (p.Phe16Leu)
c.246C>G (p.Phe82Leu)
n.213C>G
n.218C>G
c.3183C>G (p.Phe1061Leu)
c.3153C>G (p.Phe1051Leu)
c.2568C>G (p.Phe856Leu)
c.3279C>G (p.Phe1093Leu)
c.2505C>G (p.Phe835Leu)
c.2472C>G (p.Phe824Leu)
n.3506C>G
c.2685C>G (p.Phe895Leu)
n.3500C>G
Xg.53238239G>TCA413146792IQSEC2c.3342C>A (p.Phe1114Leu)
c.1135C>A
c.644C>A
c.473C>A
c.48C>A (p.Phe16Leu)
c.246C>A (p.Phe82Leu)
n.213C>A
n.218C>A
c.3183C>A (p.Phe1061Leu)
c.3153C>A (p.Phe1051Leu)
c.2568C>A (p.Phe856Leu)
c.3279C>A (p.Phe1093Leu)
c.2505C>A (p.Phe835Leu)
c.2472C>A (p.Phe824Leu)
n.3506C>A
c.2685C>A (p.Phe895Leu)
n.3500C>A
Xg.53238240A>CCA413146797IQSEC2c.3341T>G (p.Phe1114Cys)
c.1134T>G
c.643T>G
c.472T>G
c.47T>G (p.Phe16Cys)
c.245T>G (p.Phe82Cys)
n.212T>G
n.217T>G
c.3182T>G (p.Phe1061Cys)
c.3152T>G (p.Phe1051Cys)
c.2567T>G (p.Phe856Cys)
c.3278T>G (p.Phe1093Cys)
c.2504T>G (p.Phe835Cys)
c.2471T>G (p.Phe824Cys)
n.3505T>G
c.2684T>G (p.Phe895Cys)
n.3499T>G
Xg.53238240A>GCA413146799IQSEC2c.3341T>C (p.Phe1114Ser)
c.1134T>C
c.643T>C
c.472T>C
c.47T>C (p.Phe16Ser)
c.245T>C (p.Phe82Ser)
n.212T>C
n.217T>C
c.3182T>C (p.Phe1061Ser)
c.3152T>C (p.Phe1051Ser)
c.2567T>C (p.Phe856Ser)
c.3278T>C (p.Phe1093Ser)
c.2504T>C (p.Phe835Ser)
c.2471T>C (p.Phe824Ser)
n.3505T>C
c.2684T>C (p.Phe895Ser)
n.3499T>C
Xg.53238240A>TCA413146804IQSEC2c.3341T>A (p.Phe1114Tyr)
c.1134T>A
c.643T>A
c.472T>A
c.47T>A (p.Phe16Tyr)
c.245T>A (p.Phe82Tyr)
n.212T>A
n.217T>A
c.3182T>A (p.Phe1061Tyr)
c.3152T>A (p.Phe1051Tyr)
c.2567T>A (p.Phe856Tyr)
c.3278T>A (p.Phe1093Tyr)
c.2504T>A (p.Phe835Tyr)
c.2471T>A (p.Phe824Tyr)
n.3505T>A
c.2684T>A (p.Phe895Tyr)
n.3499T>A
Xg.53238241A>CCA413146808IQSEC2c.3340T>G (p.Phe1114Val)
c.1133T>G
c.642T>G
c.471T>G
c.46T>G (p.Phe16Val)
c.244T>G (p.Phe82Val)
n.211T>G
n.216T>G
c.3181T>G (p.Phe1061Val)
c.3151T>G (p.Phe1051Val)
c.2566T>G (p.Phe856Val)
c.3277T>G (p.Phe1093Val)
c.2503T>G (p.Phe835Val)
c.2470T>G (p.Phe824Val)
n.3504T>G
c.2683T>G (p.Phe895Val)
n.3498T>G
Xg.53238241A>GCA413146812IQSEC2c.3340T>C (p.Phe1114Leu)
c.1133T>C
c.642T>C
c.471T>C
c.46T>C (p.Phe16Leu)
c.244T>C (p.Phe82Leu)
n.211T>C
n.216T>C
c.3181T>C (p.Phe1061Leu)
c.3151T>C (p.Phe1051Leu)
c.2566T>C (p.Phe856Leu)
c.3277T>C (p.Phe1093Leu)
c.2503T>C (p.Phe835Leu)
c.2470T>C (p.Phe824Leu)
n.3504T>C
c.2683T>C (p.Phe895Leu)
n.3498T>C
Xg.53238241A>TCA413146814IQSEC2c.3340T>A (p.Phe1114Ile)
c.1133T>A
c.642T>A
c.471T>A
c.46T>A (p.Phe16Ile)
c.244T>A (p.Phe82Ile)
n.211T>A
n.216T>A
c.3181T>A (p.Phe1061Ile)
c.3151T>A (p.Phe1051Ile)
c.2566T>A (p.Phe856Ile)
c.3277T>A (p.Phe1093Ile)
c.2503T>A (p.Phe835Ile)
c.2470T>A (p.Phe824Ile)
n.3504T>A
c.2683T>A (p.Phe895Ile)
n.3498T>A
Xg.53238242G>ACA516422314IQSEC2c.3339C>T (p.Ile1113=)
c.1132C>T
c.641C>T
c.470C>T
c.45C>T (p.Ile15=)
c.243C>T (p.Ile81=)
n.210C>T
n.215C>T
c.3180C>T (p.Ile1060=)
c.3150C>T (p.Ile1050=)
c.2565C>T (p.Ile855=)
c.3276C>T (p.Ile1092=)
c.2502C>T (p.Ile834=)
c.2469C>T (p.Ile823=)
n.3503C>T
c.2682C>T (p.Ile894=)
n.3497C>T
Xg.53238242G>CCA413146816IQSEC2c.3339C>G (p.Ile1113Met)
c.1132C>G
c.641C>G
c.470C>G
c.45C>G (p.Ile15Met)
c.243C>G (p.Ile81Met)
n.210C>G
n.215C>G
c.3180C>G (p.Ile1060Met)
c.3150C>G (p.Ile1050Met)
c.2565C>G (p.Ile855Met)
c.3276C>G (p.Ile1092Met)
c.2502C>G (p.Ile834Met)
c.2469C>G (p.Ile823Met)
n.3503C>G
c.2682C>G (p.Ile894Met)
n.3497C>G
Xg.53238242G>TCA516422321IQSEC2c.3339C>A (p.Ile1113=)
c.1132C>A
c.641C>A
c.470C>A
c.45C>A (p.Ile15=)
c.243C>A (p.Ile81=)
n.210C>A
n.215C>A
c.3180C>A (p.Ile1060=)
c.3150C>A (p.Ile1050=)
c.2565C>A (p.Ile855=)
c.3276C>A (p.Ile1092=)
c.2502C>A (p.Ile834=)
c.2469C>A (p.Ile823=)
n.3503C>A
c.2682C>A (p.Ile894=)
n.3497C>A
Xg.53238243A>CCA413146821IQSEC2c.3338T>G (p.Ile1113Ser)
c.1131T>G
c.640T>G
c.469T>G
c.44T>G (p.Ile15Ser)
c.242T>G (p.Ile81Ser)
n.209T>G
n.214T>G
c.3179T>G (p.Ile1060Ser)
c.3149T>G (p.Ile1050Ser)
c.2564T>G (p.Ile855Ser)
c.3275T>G (p.Ile1092Ser)
c.2501T>G (p.Ile834Ser)
c.2468T>G (p.Ile823Ser)
n.3502T>G
c.2681T>G (p.Ile894Ser)
n.3496T>G
Xg.53238243A>GCA413146824IQSEC2c.3338T>C (p.Ile1113Thr)
c.1131T>C
c.640T>C
c.469T>C
c.44T>C (p.Ile15Thr)
c.242T>C (p.Ile81Thr)
n.209T>C
n.214T>C
c.3179T>C (p.Ile1060Thr)
c.3149T>C (p.Ile1050Thr)
c.2564T>C (p.Ile855Thr)
c.3275T>C (p.Ile1092Thr)
c.2501T>C (p.Ile834Thr)
c.2468T>C (p.Ile823Thr)
n.3502T>C
c.2681T>C (p.Ile894Thr)
n.3496T>C
Xg.53238243A>TCA413146827IQSEC2c.3338T>A (p.Ile1113Asn)
c.1131T>A
c.640T>A
c.469T>A
c.44T>A (p.Ile15Asn)
c.242T>A (p.Ile81Asn)
n.209T>A
n.214T>A
c.3179T>A (p.Ile1060Asn)
c.3149T>A (p.Ile1050Asn)
c.2564T>A (p.Ile855Asn)
c.3275T>A (p.Ile1092Asn)
c.2501T>A (p.Ile834Asn)
c.2468T>A (p.Ile823Asn)
n.3502T>A
c.2681T>A (p.Ile894Asn)
n.3496T>A
Xg.53238244T>ACA413146832IQSEC2c.3337A>T (p.Ile1113Phe)
c.1130A>T
c.639A>T
c.468A>T
c.43A>T (p.Ile15Phe)
c.241A>T (p.Ile81Phe)
n.208A>T
n.213A>T
c.3178A>T (p.Ile1060Phe)
c.3148A>T (p.Ile1050Phe)
c.2563A>T (p.Ile855Phe)
c.3274A>T (p.Ile1092Phe)
c.2500A>T (p.Ile834Phe)
c.2467A>T (p.Ile823Phe)
n.3501A>T
c.2680A>T (p.Ile894Phe)
n.3495A>T
 gnomAD v4
Xg.53238244T>CCA10419836IQSEC2c.3337A>G (p.Ile1113Val)
c.1130A>G
c.639A>G
c.468A>G
c.43A>G (p.Ile15Val)
c.241A>G (p.Ile81Val)
n.208A>G
n.213A>G
c.3178A>G (p.Ile1060Val)
c.3148A>G (p.Ile1050Val)
c.2563A>G (p.Ile855Val)
c.3274A>G (p.Ile1092Val)
c.2500A>G (p.Ile834Val)
c.2467A>G (p.Ile823Val)
n.3501A>G
c.2680A>G (p.Ile894Val)
n.3495A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53238244T>GCA413146838IQSEC2c.3337A>C (p.Ile1113Leu)
c.1130A>C
c.639A>C
c.468A>C
c.43A>C (p.Ile15Leu)
c.241A>C (p.Ile81Leu)
n.208A>C
n.213A>C
c.3178A>C (p.Ile1060Leu)
c.3148A>C (p.Ile1050Leu)
c.2563A>C (p.Ile855Leu)
c.3274A>C (p.Ile1092Leu)
c.2500A>C (p.Ile834Leu)
c.2467A>C (p.Ile823Leu)
n.3501A>C
c.2680A>C (p.Ile894Leu)
n.3495A>C
Xg.53238244T=CA2429771714IQSEC2c.3337A= (p.Ile1113=)
c.1130A=
c.639A=
c.468A=
c.43A= (p.Ile15=)
c.241A= (p.Ile81=)
n.208A=
n.213A=
c.3178A= (p.Ile1060=)
c.3148A= (p.Ile1050=)
c.2563A= (p.Ile855=)
c.3274A= (p.Ile1092=)
c.2500A= (p.Ile834=)
c.2467A= (p.Ile823=)
n.3501A=
c.2680A= (p.Ile894=)
n.3495A=
Xg.53238245G>ACA516422337IQSEC2c.3336C>T (p.Ile1112=)
c.1129C>T
c.638C>T
c.467C>T
c.42C>T (p.Ile14=)
c.240C>T (p.Ile80=)
n.207C>T
n.212C>T
c.3177C>T (p.Ile1059=)
c.3147C>T (p.Ile1049=)
c.2562C>T (p.Ile854=)
c.3273C>T (p.Ile1091=)
c.2499C>T (p.Ile833=)
c.2466C>T (p.Ile822=)
n.3500C>T
c.2679C>T (p.Ile893=)
n.3494C>T
 dbSNP
Xg.53238245G>CCA413146840IQSEC2c.3336C>G (p.Ile1112Met)
c.1129C>G
c.638C>G
c.467C>G
c.42C>G (p.Ile14Met)
c.240C>G (p.Ile80Met)
n.207C>G
n.212C>G
c.3177C>G (p.Ile1059Met)
c.3147C>G (p.Ile1049Met)
c.2562C>G (p.Ile854Met)
c.3273C>G (p.Ile1091Met)
c.2499C>G (p.Ile833Met)
c.2466C>G (p.Ile822Met)
n.3500C>G
c.2679C>G (p.Ile893Met)
n.3494C>G
Xg.53238245G=CA2429771715IQSEC2c.3336C= (p.Ile1112=)
c.1129C=
c.638C=
c.467C=
c.42C= (p.Ile14=)
c.240C= (p.Ile80=)
n.207C=
n.212C=
c.3177C= (p.Ile1059=)
c.3147C= (p.Ile1049=)
c.2562C= (p.Ile854=)
c.3273C= (p.Ile1091=)
c.2499C= (p.Ile833=)
c.2466C= (p.Ile822=)
n.3500C=
c.2679C= (p.Ile893=)
n.3494C=
Xg.53238245G>TCA516422342IQSEC2c.3336C>A (p.Ile1112=)
c.1129C>A
c.638C>A
c.467C>A
c.42C>A (p.Ile14=)
c.240C>A (p.Ile80=)
n.207C>A
n.212C>A
c.3177C>A (p.Ile1059=)
c.3147C>A (p.Ile1049=)
c.2562C>A (p.Ile854=)
c.3273C>A (p.Ile1091=)
c.2499C>A (p.Ile833=)
c.2466C>A (p.Ile822=)
n.3500C>A
c.2679C>A (p.Ile893=)
n.3494C>A
Xg.53238246A>CCA413146845IQSEC2c.3335T>G (p.Ile1112Ser)
c.1128T>G
c.637T>G
c.466T>G
c.41T>G (p.Ile14Ser)
c.239T>G (p.Ile80Ser)
n.206T>G
n.211T>G
c.3176T>G (p.Ile1059Ser)
c.3146T>G (p.Ile1049Ser)
c.2561T>G (p.Ile854Ser)
c.3272T>G (p.Ile1091Ser)
c.2498T>G (p.Ile833Ser)
c.2465T>G (p.Ile822Ser)
n.3499T>G
c.2678T>G (p.Ile893Ser)
n.3493T>G
Xg.53238246A>GCA413146848IQSEC2c.3335T>C (p.Ile1112Thr)
c.1128T>C
c.637T>C
c.466T>C
c.41T>C (p.Ile14Thr)
c.239T>C (p.Ile80Thr)
n.206T>C
n.211T>C
c.3176T>C (p.Ile1059Thr)
c.3146T>C (p.Ile1049Thr)
c.2561T>C (p.Ile854Thr)
c.3272T>C (p.Ile1091Thr)
c.2498T>C (p.Ile833Thr)
c.2465T>C (p.Ile822Thr)
n.3499T>C
c.2678T>C (p.Ile893Thr)
n.3493T>C
Xg.53238246A>TCA413146851IQSEC2c.3335T>A (p.Ile1112Asn)
c.1128T>A
c.637T>A
c.466T>A
c.41T>A (p.Ile14Asn)
c.239T>A (p.Ile80Asn)
n.206T>A
n.211T>A
c.3176T>A (p.Ile1059Asn)
c.3146T>A (p.Ile1049Asn)
c.2561T>A (p.Ile854Asn)
c.3272T>A (p.Ile1091Asn)
c.2498T>A (p.Ile833Asn)
c.2465T>A (p.Ile822Asn)
n.3499T>A
c.2678T>A (p.Ile893Asn)
n.3493T>A
Xg.53238247T>ACA413146857IQSEC2c.3334A>T (p.Ile1112Phe)
c.1127A>T
c.636A>T
c.465A>T
c.40A>T (p.Ile14Phe)
c.238A>T (p.Ile80Phe)
n.205A>T
n.210A>T
c.3175A>T (p.Ile1059Phe)
c.3145A>T (p.Ile1049Phe)
c.2560A>T (p.Ile854Phe)
c.3271A>T (p.Ile1091Phe)
c.2497A>T (p.Ile833Phe)
c.2464A>T (p.Ile822Phe)
n.3498A>T
c.2677A>T (p.Ile893Phe)
n.3492A>T
Xg.53238247T>CCA413146860IQSEC2c.3334A>G (p.Ile1112Val)
c.1127A>G
c.636A>G
c.465A>G
c.40A>G (p.Ile14Val)
c.238A>G (p.Ile80Val)
n.205A>G
n.210A>G
c.3175A>G (p.Ile1059Val)
c.3145A>G (p.Ile1049Val)
c.2560A>G (p.Ile854Val)
c.3271A>G (p.Ile1091Val)
c.2497A>G (p.Ile833Val)
c.2464A>G (p.Ile822Val)
n.3498A>G
c.2677A>G (p.Ile893Val)
n.3492A>G
Xg.53238247T>GCA413146864IQSEC2c.3334A>C (p.Ile1112Leu)
c.1127A>C
c.636A>C
c.465A>C
c.40A>C (p.Ile14Leu)
c.238A>C (p.Ile80Leu)
n.205A>C
n.210A>C
c.3175A>C (p.Ile1059Leu)
c.3145A>C (p.Ile1049Leu)
c.2560A>C (p.Ile854Leu)
c.3271A>C (p.Ile1091Leu)
c.2497A>C (p.Ile833Leu)
c.2464A>C (p.Ile822Leu)
n.3498A>C
c.2677A>C (p.Ile893Leu)
n.3492A>C
Xg.53238248G>ACA516422359IQSEC2c.3333C>T (p.Leu1111=)
c.1126C>T
c.635C>T
c.464C>T
c.39C>T (p.Leu13=)
c.237C>T (p.Leu79=)
n.204C>T
n.209C>T
c.3174C>T (p.Leu1058=)
c.3144C>T (p.Leu1048=)
c.2559C>T (p.Leu853=)
c.3270C>T (p.Leu1090=)
c.2496C>T (p.Leu832=)
c.2463C>T (p.Leu821=)
n.3497C>T
c.2676C>T (p.Leu892=)
n.3491C>T
 COSMIC COSMIC COSMIC
Xg.53238248G>CCA516422362IQSEC2c.3333C>G (p.Leu1111=)
c.1126C>G
c.635C>G
c.464C>G
c.39C>G (p.Leu13=)
c.237C>G (p.Leu79=)
n.204C>G
n.209C>G
c.3174C>G (p.Leu1058=)
c.3144C>G (p.Leu1048=)
c.2559C>G (p.Leu853=)
c.3270C>G (p.Leu1090=)
c.2496C>G (p.Leu832=)
c.2463C>G (p.Leu821=)
n.3497C>G
c.2676C>G (p.Leu892=)
n.3491C>G
Xg.53238248G>TCA516422365IQSEC2c.3333C>A (p.Leu1111=)
c.1126C>A
c.635C>A
c.464C>A
c.39C>A (p.Leu13=)
c.237C>A (p.Leu79=)
n.204C>A
n.209C>A
c.3174C>A (p.Leu1058=)
c.3144C>A (p.Leu1048=)
c.2559C>A (p.Leu853=)
c.3270C>A (p.Leu1090=)
c.2496C>A (p.Leu832=)
c.2463C>A (p.Leu821=)
n.3497C>A
c.2676C>A (p.Leu892=)
n.3491C>A
Xg.53238249A>CCA413146866IQSEC2c.3332T>G (p.Leu1111Arg)
c.1125T>G
c.634T>G
c.463T>G
c.38T>G (p.Leu13Arg)
c.236T>G (p.Leu79Arg)
n.203T>G
n.208T>G
c.3173T>G (p.Leu1058Arg)
c.3143T>G (p.Leu1048Arg)
c.2558T>G (p.Leu853Arg)
c.3269T>G (p.Leu1090Arg)
c.2495T>G (p.Leu832Arg)
c.2462T>G (p.Leu821Arg)
n.3496T>G
c.2675T>G (p.Leu892Arg)
n.3490T>G
Xg.53238249A>GCA413146869IQSEC2c.3332T>C (p.Leu1111Pro)
c.1125T>C
c.634T>C
c.463T>C
c.38T>C (p.Leu13Pro)
c.236T>C (p.Leu79Pro)
n.203T>C
n.208T>C
c.3173T>C (p.Leu1058Pro)
c.3143T>C (p.Leu1048Pro)
c.2558T>C (p.Leu853Pro)
c.3269T>C (p.Leu1090Pro)
c.2495T>C (p.Leu832Pro)
c.2462T>C (p.Leu821Pro)
n.3496T>C
c.2675T>C (p.Leu892Pro)
n.3490T>C
Xg.53238249A>TCA413146872IQSEC2c.3332T>A (p.Leu1111His)
c.1125T>A
c.634T>A
c.463T>A
c.38T>A (p.Leu13His)
c.236T>A (p.Leu79His)
n.203T>A
n.208T>A
c.3173T>A (p.Leu1058His)
c.3143T>A (p.Leu1048His)
c.2558T>A (p.Leu853His)
c.3269T>A (p.Leu1090His)
c.2495T>A (p.Leu832His)
c.2462T>A (p.Leu821His)
n.3496T>A
c.2675T>A (p.Leu892His)
n.3490T>A
Xg.53238250G>ACA413146877IQSEC2c.3331C>T (p.Leu1111Phe)
c.1124C>T
c.633C>T
c.462C>T
c.37C>T (p.Leu13Phe)
c.235C>T (p.Leu79Phe)
n.202C>T
n.207C>T
c.3172C>T (p.Leu1058Phe)
c.3142C>T (p.Leu1048Phe)
c.2557C>T (p.Leu853Phe)
c.3268C>T (p.Leu1090Phe)
c.2494C>T (p.Leu832Phe)
c.2461C>T (p.Leu821Phe)
n.3495C>T
c.2674C>T (p.Leu892Phe)
n.3489C>T
Xg.53238250G>CCA413146880IQSEC2c.3331C>G (p.Leu1111Val)
c.1124C>G
c.633C>G
c.462C>G
c.37C>G (p.Leu13Val)
c.235C>G (p.Leu79Val)
n.202C>G
n.207C>G
c.3172C>G (p.Leu1058Val)
c.3142C>G (p.Leu1048Val)
c.2557C>G (p.Leu853Val)
c.3268C>G (p.Leu1090Val)
c.2494C>G (p.Leu832Val)
c.2461C>G (p.Leu821Val)
n.3495C>G
c.2674C>G (p.Leu892Val)
n.3489C>G
Xg.53238250G=CA2429771716IQSEC2c.3331C= (p.Leu1111=)
c.1124C=
c.633C=
c.462C=
c.37C= (p.Leu13=)
c.235C= (p.Leu79=)
n.202C=
n.207C=
c.3172C= (p.Leu1058=)
c.3142C= (p.Leu1048=)
c.2557C= (p.Leu853=)
c.3268C= (p.Leu1090=)
c.2494C= (p.Leu832=)
c.2461C= (p.Leu821=)
n.3495C=
c.2674C= (p.Leu892=)
n.3489C=
Xg.53238250G>TCA413146882IQSEC2c.3331C>A (p.Leu1111Ile)
c.1124C>A
c.633C>A
c.462C>A
c.37C>A (p.Leu13Ile)
c.235C>A (p.Leu79Ile)
n.202C>A
n.207C>A
c.3172C>A (p.Leu1058Ile)
c.3142C>A (p.Leu1048Ile)
c.2557C>A (p.Leu853Ile)
c.3268C>A (p.Leu1090Ile)
c.2494C>A (p.Leu832Ile)
c.2461C>A (p.Leu821Ile)
n.3495C>A
c.2674C>A (p.Leu892Ile)
n.3489C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53238251G>ACA516422381IQSEC2c.3330C>T (p.Val1110=)
c.1123C>T
c.632C>T
c.461C>T
c.36C>T (p.Val12=)
c.234C>T (p.Val78=)
n.201C>T
n.206C>T
c.3171C>T (p.Val1057=)
c.3141C>T (p.Val1047=)
c.2556C>T (p.Val852=)
c.3267C>T (p.Val1089=)
c.2493C>T (p.Val831=)
c.2460C>T (p.Val820=)
n.3494C>T
c.2673C>T (p.Val891=)
n.3488C>T
Xg.53238251G>CCA516422392IQSEC2c.3330C>G (p.Val1110=)
c.1123C>G
c.632C>G
c.461C>G
c.36C>G (p.Val12=)
c.234C>G (p.Val78=)
n.201C>G
n.206C>G
c.3171C>G (p.Val1057=)
c.3141C>G (p.Val1047=)
c.2556C>G (p.Val852=)
c.3267C>G (p.Val1089=)
c.2493C>G (p.Val831=)
c.2460C>G (p.Val820=)
n.3494C>G
c.2673C>G (p.Val891=)
n.3488C>G
Xg.53238251G>TCA516422394IQSEC2c.3330C>A (p.Val1110=)
c.1123C>A
c.632C>A
c.461C>A
c.36C>A (p.Val12=)
c.234C>A (p.Val78=)
n.201C>A
n.206C>A
c.3171C>A (p.Val1057=)
c.3141C>A (p.Val1047=)
c.2556C>A (p.Val852=)
c.3267C>A (p.Val1089=)
c.2493C>A (p.Val831=)
c.2460C>A (p.Val820=)
n.3494C>A
c.2673C>A (p.Val891=)
n.3488C>A
Xg.53238252A>CCA413146893IQSEC2c.3329T>G (p.Val1110Gly)
c.1122T>G
c.631T>G
c.460T>G
c.35T>G (p.Val12Gly)
c.233T>G (p.Val78Gly)
n.200T>G
n.205T>G
c.3170T>G (p.Val1057Gly)
c.3140T>G (p.Val1047Gly)
c.2555T>G (p.Val852Gly)
c.3266T>G (p.Val1089Gly)
c.2492T>G (p.Val831Gly)
c.2459T>G (p.Val820Gly)
n.3493T>G
c.2672T>G (p.Val891Gly)
n.3487T>G
Xg.53238252A>GCA413146889IQSEC2c.3329T>C (p.Val1110Ala)
c.1122T>C
c.631T>C
c.460T>C
c.35T>C (p.Val12Ala)
c.233T>C (p.Val78Ala)
n.200T>C
n.205T>C
c.3170T>C (p.Val1057Ala)
c.3140T>C (p.Val1047Ala)
c.2555T>C (p.Val852Ala)
c.3266T>C (p.Val1089Ala)
c.2492T>C (p.Val831Ala)
c.2459T>C (p.Val820Ala)
n.3493T>C
c.2672T>C (p.Val891Ala)
n.3487T>C
Xg.53238252A>TCA413146886IQSEC2c.3329T>A (p.Val1110Asp)
c.1122T>A
c.631T>A
c.460T>A
c.35T>A (p.Val12Asp)
c.233T>A (p.Val78Asp)
n.200T>A
n.205T>A
c.3170T>A (p.Val1057Asp)
c.3140T>A (p.Val1047Asp)
c.2555T>A (p.Val852Asp)
c.3266T>A (p.Val1089Asp)
c.2492T>A (p.Val831Asp)
c.2459T>A (p.Val820Asp)
n.3493T>A
c.2672T>A (p.Val891Asp)
n.3487T>A
Xg.53238253C>ACA413146899IQSEC2c.3328G>T (p.Val1110Phe)
c.1121G>T
c.630G>T
c.459G>T
c.34G>T (p.Val12Phe)
c.232G>T (p.Val78Phe)
n.199G>T
n.204G>T
c.3169G>T (p.Val1057Phe)
c.3139G>T (p.Val1047Phe)
c.2554G>T (p.Val852Phe)
c.3265G>T (p.Val1089Phe)
c.2491G>T (p.Val831Phe)
c.2458G>T (p.Val820Phe)
n.3492G>T
c.2671G>T (p.Val891Phe)
n.3486G>T
Xg.53238253C>GCA413146904IQSEC2c.3328G>C (p.Val1110Leu)
c.1121G>C
c.630G>C
c.459G>C
c.34G>C (p.Val12Leu)
c.232G>C (p.Val78Leu)
n.199G>C
n.204G>C
c.3169G>C (p.Val1057Leu)
c.3139G>C (p.Val1047Leu)
c.2554G>C (p.Val852Leu)
c.3265G>C (p.Val1089Leu)
c.2491G>C (p.Val831Leu)
c.2458G>C (p.Val820Leu)
n.3492G>C
c.2671G>C (p.Val891Leu)
n.3486G>C
Xg.53238253C>TCA413146901IQSEC2c.3328G>A (p.Val1110Ile)
c.1121G>A
c.630G>A
c.459G>A
c.34G>A (p.Val12Ile)
c.232G>A (p.Val78Ile)
n.199G>A
n.204G>A
c.3169G>A (p.Val1057Ile)
c.3139G>A (p.Val1047Ile)
c.2554G>A (p.Val852Ile)
c.3265G>A (p.Val1089Ile)
c.2491G>A (p.Val831Ile)
c.2458G>A (p.Val820Ile)
n.3492G>A
c.2671G>A (p.Val891Ile)
n.3486G>A
Xg.53238254T>ACA413146909IQSEC2c.3327A>T (p.Lys1109Asn)
c.1120A>T
c.629A>T
c.458A>T
c.33A>T (p.Lys11Asn)
c.231A>T (p.Lys77Asn)
n.198A>T
n.203A>T
c.3168A>T (p.Lys1056Asn)
c.3138A>T (p.Lys1046Asn)
c.2553A>T (p.Lys851Asn)
c.3264A>T (p.Lys1088Asn)
c.2490A>T (p.Lys830Asn)
c.2457A>T (p.Lys819Asn)
n.3491A>T
c.2670A>T (p.Lys890Asn)
n.3485A>T
Xg.53238254T>CCA516422417IQSEC2c.3327A>G (p.Lys1109=)
c.1120A>G
c.629A>G
c.458A>G
c.33A>G (p.Lys11=)
c.231A>G (p.Lys77=)
n.198A>G
n.203A>G
c.3168A>G (p.Lys1056=)
c.3138A>G (p.Lys1046=)
c.2553A>G (p.Lys851=)
c.3264A>G (p.Lys1088=)
c.2490A>G (p.Lys830=)
c.2457A>G (p.Lys819=)
n.3491A>G
c.2670A>G (p.Lys890=)
n.3485A>G
Xg.53238254T>GCA413146911IQSEC2c.3327A>C (p.Lys1109Asn)
c.1120A>C
c.629A>C
c.458A>C
c.33A>C (p.Lys11Asn)
c.231A>C (p.Lys77Asn)
n.198A>C
n.203A>C
c.3168A>C (p.Lys1056Asn)
c.3138A>C (p.Lys1046Asn)
c.2553A>C (p.Lys851Asn)
c.3264A>C (p.Lys1088Asn)
c.2490A>C (p.Lys830Asn)
c.2457A>C (p.Lys819Asn)
n.3491A>C
c.2670A>C (p.Lys890Asn)
n.3485A>C
Xg.53238255T>ACA413146917IQSEC2c.3326A>T (p.Lys1109Ile)
c.1119A>T
c.628A>T
c.457A>T
c.32A>T (p.Lys11Ile)
c.230A>T (p.Lys77Ile)
n.197A>T
n.202A>T
c.3167A>T (p.Lys1056Ile)
c.3137A>T (p.Lys1046Ile)
c.2552A>T (p.Lys851Ile)
c.3263A>T (p.Lys1088Ile)
c.2489A>T (p.Lys830Ile)
c.2456A>T (p.Lys819Ile)
n.3490A>T
c.2669A>T (p.Lys890Ile)
n.3484A>T
Xg.53238255T>CCA413146919IQSEC2c.3326A>G (p.Lys1109Arg)
c.1119A>G
c.628A>G
c.457A>G
c.32A>G (p.Lys11Arg)
c.230A>G (p.Lys77Arg)
n.197A>G
n.202A>G
c.3167A>G (p.Lys1056Arg)
c.3137A>G (p.Lys1046Arg)
c.2552A>G (p.Lys851Arg)
c.3263A>G (p.Lys1088Arg)
c.2489A>G (p.Lys830Arg)
c.2456A>G (p.Lys819Arg)
n.3490A>G
c.2669A>G (p.Lys890Arg)
n.3484A>G
Xg.53238255T>GCA413146923IQSEC2c.3326A>C (p.Lys1109Thr)
c.1119A>C
c.628A>C
c.457A>C
c.32A>C (p.Lys11Thr)
c.230A>C (p.Lys77Thr)
n.197A>C
n.202A>C
c.3167A>C (p.Lys1056Thr)
c.3137A>C (p.Lys1046Thr)
c.2552A>C (p.Lys851Thr)
c.3263A>C (p.Lys1088Thr)
c.2489A>C (p.Lys830Thr)
c.2456A>C (p.Lys819Thr)
n.3490A>C
c.2669A>C (p.Lys890Thr)
n.3484A>C
Xg.53238256T>ACA413146924IQSEC2c.3325A>T (p.Lys1109Ter)
c.1118A>T
c.627A>T
c.456A>T
c.31A>T (p.Lys11Ter)
c.229A>T (p.Lys77Ter)
n.196A>T
n.201A>T
c.3166A>T (p.Lys1056Ter)
c.3136A>T (p.Lys1046Ter)
c.2551A>T (p.Lys851Ter)
c.3262A>T (p.Lys1088Ter)
c.2488A>T (p.Lys830Ter)
c.2455A>T (p.Lys819Ter)
n.3489A>T
c.2668A>T (p.Lys890Ter)
n.3483A>T
Xg.53238256T>CCA329163046IQSEC2c.3325A>G (p.Lys1109Glu)
c.1118A>G
c.627A>G
c.456A>G
c.31A>G (p.Lys11Glu)
c.229A>G (p.Lys77Glu)
n.196A>G
n.201A>G
c.3166A>G (p.Lys1056Glu)
c.3136A>G (p.Lys1046Glu)
c.2551A>G (p.Lys851Glu)
c.3262A>G (p.Lys1088Glu)
c.2488A>G (p.Lys830Glu)
c.2455A>G (p.Lys819Glu)
n.3489A>G
c.2668A>G (p.Lys890Glu)
n.3483A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53238256T>GCA413146925IQSEC2c.3325A>C (p.Lys1109Gln)
c.1118A>C
c.627A>C
c.456A>C
c.31A>C (p.Lys11Gln)
c.229A>C (p.Lys77Gln)
n.196A>C
n.201A>C
c.3166A>C (p.Lys1056Gln)
c.3136A>C (p.Lys1046Gln)
c.2551A>C (p.Lys851Gln)
c.3262A>C (p.Lys1088Gln)
c.2488A>C (p.Lys830Gln)
c.2455A>C (p.Lys819Gln)
n.3489A>C
c.2668A>C (p.Lys890Gln)
n.3483A>C
Xg.53238256T=CA2429771717IQSEC2c.3325A= (p.Lys1109=)
c.1118A=
c.627A=
c.456A=
c.31A= (p.Lys11=)
c.229A= (p.Lys77=)
n.196A=
n.201A=
c.3166A= (p.Lys1056=)
c.3136A= (p.Lys1046=)
c.2551A= (p.Lys851=)
c.3262A= (p.Lys1088=)
c.2488A= (p.Lys830=)
c.2455A= (p.Lys819=)
n.3489A=
c.2668A= (p.Lys890=)
n.3483A=
Xg.53238257T>ACA516422437IQSEC2c.3324A>T (p.Arg1108=)
c.1117A>T
c.626A>T
c.455A>T
c.30A>T (p.Arg10=)
c.228A>T (p.Arg76=)
n.195A>T
n.200A>T
c.3165A>T (p.Arg1055=)
c.3135A>T (p.Arg1045=)
c.2550A>T (p.Arg850=)
c.3261A>T (p.Arg1087=)
c.2487A>T (p.Arg829=)
c.2454A>T (p.Arg818=)
n.3488A>T
c.2667A>T (p.Arg889=)
n.3482A>T
Xg.53238257T>CCA516422440IQSEC2c.3324A>G (p.Arg1108=)
c.1117A>G
c.626A>G
c.455A>G
c.30A>G (p.Arg10=)
c.228A>G (p.Arg76=)
n.195A>G
n.200A>G
c.3165A>G (p.Arg1055=)
c.3135A>G (p.Arg1045=)
c.2550A>G (p.Arg850=)
c.3261A>G (p.Arg1087=)
c.2487A>G (p.Arg829=)
c.2454A>G (p.Arg818=)
n.3488A>G
c.2667A>G (p.Arg889=)
n.3482A>G
Xg.53238257T>GCA516422441IQSEC2c.3324A>C (p.Arg1108=)
c.1117A>C
c.626A>C
c.455A>C
c.30A>C (p.Arg10=)
c.228A>C (p.Arg76=)
n.195A>C
n.200A>C
c.3165A>C (p.Arg1055=)
c.3135A>C (p.Arg1045=)
c.2550A>C (p.Arg850=)
c.3261A>C (p.Arg1087=)
c.2487A>C (p.Arg829=)
c.2454A>C (p.Arg818=)
n.3488A>C
c.2667A>C (p.Arg889=)
n.3482A>C
Xg.53238258C>ACA413146927IQSEC2c.3323G>T (p.Arg1108Leu)
c.1116G>T
c.625G>T
c.454G>T
c.29G>T (p.Arg10Leu)
c.227G>T (p.Arg76Leu)
n.194G>T
n.199G>T
c.3164G>T (p.Arg1055Leu)
c.3134G>T (p.Arg1045Leu)
c.2549G>T (p.Arg850Leu)
c.3260G>T (p.Arg1087Leu)
c.2486G>T (p.Arg829Leu)
c.2453G>T (p.Arg818Leu)
n.3487G>T
c.2666G>T (p.Arg889Leu)
n.3481G>T
Xg.53238258C=CA2429771718IQSEC2c.3323G= (p.Arg1108=)
c.1116G=
c.625G=
c.454G=
c.29G= (p.Arg10=)
c.227G= (p.Arg76=)
n.194G=
n.199G=
c.3164G= (p.Arg1055=)
c.3134G= (p.Arg1045=)
c.2549G= (p.Arg850=)
c.3260G= (p.Arg1087=)
c.2486G= (p.Arg829=)
c.2453G= (p.Arg818=)
n.3487G=
c.2666G= (p.Arg889=)
n.3481G=
Xg.53238258C>GCA413146930IQSEC2c.3323G>C (p.Arg1108Pro)
c.1116G>C
c.625G>C
c.454G>C
c.29G>C (p.Arg10Pro)
c.227G>C (p.Arg76Pro)
n.194G>C
n.199G>C
c.3164G>C (p.Arg1055Pro)
c.3134G>C (p.Arg1045Pro)
c.2549G>C (p.Arg850Pro)
c.3260G>C (p.Arg1087Pro)
c.2486G>C (p.Arg829Pro)
c.2453G>C (p.Arg818Pro)
n.3487G>C
c.2666G>C (p.Arg889Pro)
n.3481G>C
Xg.53238258C>TCA413146933IQSEC2c.3323G>A (p.Arg1108Gln)
c.1116G>A
c.625G>A
c.454G>A
c.29G>A (p.Arg10Gln)
c.227G>A (p.Arg76Gln)
n.194G>A
n.199G>A
c.3164G>A (p.Arg1055Gln)
c.3134G>A (p.Arg1045Gln)
c.2549G>A (p.Arg850Gln)
c.3260G>A (p.Arg1087Gln)
c.2486G>A (p.Arg829Gln)
c.2453G>A (p.Arg818Gln)
n.3487G>A
c.2666G>A (p.Arg889Gln)
n.3481G>A
 ClinVar dbSNP gnomAD v4
Xg.53238259G>ACA413146938IQSEC2c.3322C>T (p.Arg1108Ter)
c.1115C>T
c.624C>T
c.453C>T
c.28C>T (p.Arg10Ter)
c.226C>T (p.Arg76Ter)
n.193C>T
n.198C>T
c.3163C>T (p.Arg1055Ter)
c.3133C>T (p.Arg1045Ter)
c.2548C>T (p.Arg850Ter)
c.3259C>T (p.Arg1087Ter)
c.2485C>T (p.Arg829Ter)
c.2452C>T (p.Arg818Ter)
n.3486C>T
c.2665C>T (p.Arg889Ter)
n.3480C>T
 ClinVar dbSNP
Xg.53238259G>CCA413146940IQSEC2c.3322C>G (p.Arg1108Gly)
c.1115C>G
c.624C>G
c.453C>G
c.28C>G (p.Arg10Gly)
c.226C>G (p.Arg76Gly)
n.193C>G
n.198C>G
c.3163C>G (p.Arg1055Gly)
c.3133C>G (p.Arg1045Gly)
c.2548C>G (p.Arg850Gly)
c.3259C>G (p.Arg1087Gly)
c.2485C>G (p.Arg829Gly)
c.2452C>G (p.Arg818Gly)
n.3486C>G
c.2665C>G (p.Arg889Gly)
n.3480C>G
Xg.53238259G>TCA516422449IQSEC2c.3322C>A (p.Arg1108=)
c.1115C>A
c.624C>A
c.453C>A
c.28C>A (p.Arg10=)
c.226C>A (p.Arg76=)
n.193C>A
n.198C>A
c.3163C>A (p.Arg1055=)
c.3133C>A (p.Arg1045=)
c.2548C>A (p.Arg850=)
c.3259C>A (p.Arg1087=)
c.2485C>A (p.Arg829=)
c.2452C>A (p.Arg818=)
n.3486C>A
c.2665C>A (p.Arg889=)
n.3480C>A
 COSMIC COSMIC COSMIC
Xg.53238260C>ACA413146945IQSEC2c.3321G>T (p.Glu1107Asp)
c.1114G>T
c.623G>T
c.452G>T
c.27G>T (p.Glu9Asp)
c.225G>T (p.Glu75Asp)
n.192G>T
n.197G>T
c.3162G>T (p.Glu1054Asp)
c.3132G>T (p.Glu1044Asp)
c.2547G>T (p.Glu849Asp)
c.3258G>T (p.Glu1086Asp)
c.2484G>T (p.Glu828Asp)
c.2451G>T (p.Glu817Asp)
n.3485G>T
c.2664G>T (p.Glu888Asp)
n.3479G>T
 gnomAD v4
Xg.53238260C>GCA413146951IQSEC2c.3321G>C (p.Glu1107Asp)
c.1114G>C
c.623G>C
c.452G>C
c.27G>C (p.Glu9Asp)
c.225G>C (p.Glu75Asp)
n.192G>C
n.197G>C
c.3162G>C (p.Glu1054Asp)
c.3132G>C (p.Glu1044Asp)
c.2547G>C (p.Glu849Asp)
c.3258G>C (p.Glu1086Asp)
c.2484G>C (p.Glu828Asp)
c.2451G>C (p.Glu817Asp)
n.3485G>C
c.2664G>C (p.Glu888Asp)
n.3479G>C
Xg.53238260C>TCA516422459IQSEC2c.3321G>A (p.Glu1107=)
c.1114G>A
c.623G>A
c.452G>A
c.27G>A (p.Glu9=)
c.225G>A (p.Glu75=)
n.192G>A
n.197G>A
c.3162G>A (p.Glu1054=)
c.3132G>A (p.Glu1044=)
c.2547G>A (p.Glu849=)
c.3258G>A (p.Glu1086=)
c.2484G>A (p.Glu828=)
c.2451G>A (p.Glu817=)
n.3485G>A
c.2664G>A (p.Glu888=)
n.3479G>A
 gnomAD v4
Xg.53238261T>ACA413146957IQSEC2c.3320A>T (p.Glu1107Val)
c.1113A>T
c.622A>T
c.451A>T
c.26A>T (p.Glu9Val)
c.224A>T (p.Glu75Val)
n.191A>T
n.196A>T
c.3161A>T (p.Glu1054Val)
c.3131A>T (p.Glu1044Val)
c.2546A>T (p.Glu849Val)
c.3257A>T (p.Glu1086Val)
c.2483A>T (p.Glu828Val)
c.2450A>T (p.Glu817Val)
n.3484A>T
c.2663A>T (p.Glu888Val)
n.3478A>T
Xg.53238261T>CCA413146959IQSEC2c.3320A>G (p.Glu1107Gly)
c.1113A>G
c.622A>G
c.451A>G
c.26A>G (p.Glu9Gly)
c.224A>G (p.Glu75Gly)
n.191A>G
n.196A>G
c.3161A>G (p.Glu1054Gly)
c.3131A>G (p.Glu1044Gly)
c.2546A>G (p.Glu849Gly)
c.3257A>G (p.Glu1086Gly)
c.2483A>G (p.Glu828Gly)
c.2450A>G (p.Glu817Gly)
n.3484A>G
c.2663A>G (p.Glu888Gly)
n.3478A>G
Xg.53238261T>GCA413146961IQSEC2c.3320A>C (p.Glu1107Ala)
c.1113A>C
c.622A>C
c.451A>C
c.26A>C (p.Glu9Ala)
c.224A>C (p.Glu75Ala)
n.191A>C
n.196A>C
c.3161A>C (p.Glu1054Ala)
c.3131A>C (p.Glu1044Ala)
c.2546A>C (p.Glu849Ala)
c.3257A>C (p.Glu1086Ala)
c.2483A>C (p.Glu828Ala)
c.2450A>C (p.Glu817Ala)
n.3484A>C
c.2663A>C (p.Glu888Ala)
n.3478A>C
Xg.53238262C>ACA413146963IQSEC2c.3319G>T (p.Glu1107Ter)
c.1112G>T
c.621G>T
c.450G>T
c.25G>T (p.Glu9Ter)
c.223G>T (p.Glu75Ter)
n.190G>T
n.195G>T
c.3160G>T (p.Glu1054Ter)
c.3130G>T (p.Glu1044Ter)
c.2545G>T (p.Glu849Ter)
c.3256G>T (p.Glu1086Ter)
c.2482G>T (p.Glu828Ter)
c.2449G>T (p.Glu817Ter)
n.3483G>T
c.2662G>T (p.Glu888Ter)
n.3477G>T
Xg.53238262C=CA2429771719IQSEC2c.3319G= (p.Glu1107=)
c.1112G=
c.621G=
c.450G=
c.25G= (p.Glu9=)
c.223G= (p.Glu75=)
n.190G=
n.195G=
c.3160G= (p.Glu1054=)
c.3130G= (p.Glu1044=)
c.2545G= (p.Glu849=)
c.3256G= (p.Glu1086=)
c.2482G= (p.Glu828=)
c.2449G= (p.Glu817=)
n.3483G=
c.2662G= (p.Glu888=)
n.3477G=
Xg.53238262C>GCA413146965IQSEC2c.3319G>C (p.Glu1107Gln)
c.1112G>C
c.621G>C
c.450G>C
c.25G>C (p.Glu9Gln)
c.223G>C (p.Glu75Gln)
n.190G>C
n.195G>C
c.3160G>C (p.Glu1054Gln)
c.3130G>C (p.Glu1044Gln)
c.2545G>C (p.Glu849Gln)
c.3256G>C (p.Glu1086Gln)
c.2482G>C (p.Glu828Gln)
c.2449G>C (p.Glu817Gln)
n.3483G>C
c.2662G>C (p.Glu888Gln)
n.3477G>C
Xg.53238262C>TCA413146967IQSEC2c.3319G>A (p.Glu1107Lys)
c.1112G>A
c.621G>A
c.450G>A
c.25G>A (p.Glu9Lys)
c.223G>A (p.Glu75Lys)
n.190G>A
n.195G>A
c.3160G>A (p.Glu1054Lys)
c.3130G>A (p.Glu1044Lys)
c.2545G>A (p.Glu849Lys)
c.3256G>A (p.Glu1086Lys)
c.2482G>A (p.Glu828Lys)
c.2449G>A (p.Glu817Lys)
n.3483G>A
c.2662G>A (p.Glu888Lys)
n.3477G>A
 dbSNP
Xg.53238263C>ACA516422473IQSEC2c.3318G>T (p.Gly1106=)
c.1111G>T
c.620G>T
c.449G>T
c.24G>T (p.Gly8=)
c.222G>T (p.Gly74=)
n.189G>T
n.194G>T
c.3159G>T (p.Gly1053=)
c.3129G>T (p.Gly1043=)
c.2544G>T (p.Gly848=)
c.3255G>T (p.Gly1085=)
c.2481G>T (p.Gly827=)
c.2448G>T (p.Gly816=)
n.3482G>T
c.2661G>T (p.Gly887=)
n.3476G>T
Xg.53238263C=CA2429771720IQSEC2c.3318G= (p.Gly1106=)
c.1111G=
c.620G=
c.449G=
c.24G= (p.Gly8=)
c.222G= (p.Gly74=)
n.189G=
n.194G=
c.3159G= (p.Gly1053=)
c.3129G= (p.Gly1043=)
c.2544G= (p.Gly848=)
c.3255G= (p.Gly1085=)
c.2481G= (p.Gly827=)
c.2448G= (p.Gly816=)
n.3482G=
c.2661G= (p.Gly887=)
n.3476G=
Xg.53238263C>GCA516422470IQSEC2c.3318G>C (p.Gly1106=)
c.1111G>C
c.620G>C
c.449G>C
c.24G>C (p.Gly8=)
c.222G>C (p.Gly74=)
n.189G>C
n.194G>C
c.3159G>C (p.Gly1053=)
c.3129G>C (p.Gly1043=)
c.2544G>C (p.Gly848=)
c.3255G>C (p.Gly1085=)
c.2481G>C (p.Gly827=)
c.2448G>C (p.Gly816=)
n.3482G>C
c.2661G>C (p.Gly887=)
n.3476G>C
Xg.53238263C>TCA10419837IQSEC2c.3318G>A (p.Gly1106=)
c.1111G>A
c.620G>A
c.449G>A
c.24G>A (p.Gly8=)
c.222G>A (p.Gly74=)
n.189G>A
n.194G>A
c.3159G>A (p.Gly1053=)
c.3129G>A (p.Gly1043=)
c.2544G>A (p.Gly848=)
c.3255G>A (p.Gly1085=)
c.2481G>A (p.Gly827=)
c.2448G>A (p.Gly816=)
n.3482G>A
c.2661G>A (p.Gly887=)
n.3476G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238264C>ACA413146971IQSEC2c.3317G>T (p.Gly1106Val)
c.1110G>T
c.619G>T
c.448G>T
c.23G>T (p.Gly8Val)
c.221G>T (p.Gly74Val)
n.188G>T
n.193G>T
c.3158G>T (p.Gly1053Val)
c.3128G>T (p.Gly1043Val)
c.2543G>T (p.Gly848Val)
c.3254G>T (p.Gly1085Val)
c.2480G>T (p.Gly827Val)
c.2447G>T (p.Gly816Val)
n.3481G>T
c.2660G>T (p.Gly887Val)
n.3475G>T
Xg.53238264C>GCA413146972IQSEC2c.3317G>C (p.Gly1106Ala)
c.1110G>C
c.619G>C
c.448G>C
c.23G>C (p.Gly8Ala)
c.221G>C (p.Gly74Ala)
n.188G>C
n.193G>C
c.3158G>C (p.Gly1053Ala)
c.3128G>C (p.Gly1043Ala)
c.2543G>C (p.Gly848Ala)
c.3254G>C (p.Gly1085Ala)
c.2480G>C (p.Gly827Ala)
c.2447G>C (p.Gly816Ala)
n.3481G>C
c.2660G>C (p.Gly887Ala)
n.3475G>C
Xg.53238264C>TCA413146974IQSEC2c.3317G>A (p.Gly1106Glu)
c.1110G>A
c.619G>A
c.448G>A
c.23G>A (p.Gly8Glu)
c.221G>A (p.Gly74Glu)
n.188G>A
n.193G>A
c.3158G>A (p.Gly1053Glu)
c.3128G>A (p.Gly1043Glu)
c.2543G>A (p.Gly848Glu)
c.3254G>A (p.Gly1085Glu)
c.2480G>A (p.Gly827Glu)
c.2447G>A (p.Gly816Glu)
n.3481G>A
c.2660G>A (p.Gly887Glu)
n.3475G>A
Xg.53238265C>ACA413146979IQSEC2c.3316G>T (p.Gly1106Trp)
c.1109G>T
c.618G>T
c.447G>T
c.22G>T (p.Gly8Trp)
c.220G>T (p.Gly74Trp)
n.187G>T
n.192G>T
c.3157G>T (p.Gly1053Trp)
c.3127G>T (p.Gly1043Trp)
c.2542G>T (p.Gly848Trp)
c.3253G>T (p.Gly1085Trp)
c.2479G>T (p.Gly827Trp)
c.2446G>T (p.Gly816Trp)
n.3480G>T
c.2659G>T (p.Gly887Trp)
n.3474G>T
Xg.53238265C>GCA413146978IQSEC2c.3316G>C (p.Gly1106Arg)
c.1109G>C
c.618G>C
c.447G>C
c.22G>C (p.Gly8Arg)
c.220G>C (p.Gly74Arg)
n.187G>C
n.192G>C
c.3157G>C (p.Gly1053Arg)
c.3127G>C (p.Gly1043Arg)
c.2542G>C (p.Gly848Arg)
c.3253G>C (p.Gly1085Arg)
c.2479G>C (p.Gly827Arg)
c.2446G>C (p.Gly816Arg)
n.3480G>C
c.2659G>C (p.Gly887Arg)
n.3474G>C
Xg.53238265C>TCA413146976IQSEC2c.3316G>A (p.Gly1106Arg)
c.1109G>A
c.618G>A
c.447G>A
c.22G>A (p.Gly8Arg)
c.220G>A (p.Gly74Arg)
n.187G>A
n.192G>A
c.3157G>A (p.Gly1053Arg)
c.3127G>A (p.Gly1043Arg)
c.2542G>A (p.Gly848Arg)
c.3253G>A (p.Gly1085Arg)
c.2479G>A (p.Gly827Arg)
c.2446G>A (p.Gly816Arg)
n.3480G>A
c.2659G>A (p.Gly887Arg)
n.3474G>A
Xg.53238266A>CCA516422491IQSEC2c.3315T>G (p.Gly1105=)
c.1108T>G
c.617T>G
c.446T>G
c.21T>G (p.Gly7=)
c.219T>G (p.Gly73=)
n.186T>G
n.191T>G
c.3156T>G (p.Gly1052=)
c.3126T>G (p.Gly1042=)
c.2541T>G (p.Gly847=)
c.3252T>G (p.Gly1084=)
c.2478T>G (p.Gly826=)
c.2445T>G (p.Gly815=)
n.3479T>G
c.2658T>G (p.Gly886=)
n.3473T>G
Xg.53238266A>GCA516422495IQSEC2c.3315T>C (p.Gly1105=)
c.1108T>C
c.617T>C
c.446T>C
c.21T>C (p.Gly7=)
c.219T>C (p.Gly73=)
n.186T>C
n.191T>C
c.3156T>C (p.Gly1052=)
c.3126T>C (p.Gly1042=)
c.2541T>C (p.Gly847=)
c.3252T>C (p.Gly1084=)
c.2478T>C (p.Gly826=)
c.2445T>C (p.Gly815=)
n.3479T>C
c.2658T>C (p.Gly886=)
n.3473T>C
Xg.53238266A>TCA516422496IQSEC2c.3315T>A (p.Gly1105=)
c.1108T>A
c.617T>A
c.446T>A
c.21T>A (p.Gly7=)
c.219T>A (p.Gly73=)
n.186T>A
n.191T>A
c.3156T>A (p.Gly1052=)
c.3126T>A (p.Gly1042=)
c.2541T>A (p.Gly847=)
c.3252T>A (p.Gly1084=)
c.2478T>A (p.Gly826=)
c.2445T>A (p.Gly815=)
n.3479T>A
c.2658T>A (p.Gly886=)
n.3473T>A
Xg.53238267C>ACA413146980IQSEC2c.3314G>T (p.Gly1105Val)
c.1107G>T
c.616G>T
c.445G>T
c.20G>T (p.Gly7Val)
c.218G>T (p.Gly73Val)
n.185G>T
n.190G>T
c.3155G>T (p.Gly1052Val)
c.3125G>T (p.Gly1042Val)
c.2540G>T (p.Gly847Val)
c.3251G>T (p.Gly1084Val)
c.2477G>T (p.Gly826Val)
c.2444G>T (p.Gly815Val)
n.3478G>T
c.2657G>T (p.Gly886Val)
n.3472G>T
Xg.53238267C=CA2429771721IQSEC2c.3314G= (p.Gly1105=)
c.1107G=
c.616G=
c.445G=
c.20G= (p.Gly7=)
c.218G= (p.Gly73=)
n.185G=
n.190G=
c.3155G= (p.Gly1052=)
c.3125G= (p.Gly1042=)
c.2540G= (p.Gly847=)
c.3251G= (p.Gly1084=)
c.2477G= (p.Gly826=)
c.2444G= (p.Gly815=)
n.3478G=
c.2657G= (p.Gly886=)
n.3472G=
Xg.53238267C>GCA413146982IQSEC2c.3314G>C (p.Gly1105Ala)
c.1107G>C
c.616G>C
c.445G>C
c.20G>C (p.Gly7Ala)
c.218G>C (p.Gly73Ala)
n.185G>C
n.190G>C
c.3155G>C (p.Gly1052Ala)
c.3125G>C (p.Gly1042Ala)
c.2540G>C (p.Gly847Ala)
c.3251G>C (p.Gly1084Ala)
c.2477G>C (p.Gly826Ala)
c.2444G>C (p.Gly815Ala)
n.3478G>C
c.2657G>C (p.Gly886Ala)
n.3472G>C
Xg.53238267C>TCA413146984IQSEC2c.3314G>A (p.Gly1105Asp)
c.1107G>A
c.616G>A
c.445G>A
c.20G>A (p.Gly7Asp)
c.218G>A (p.Gly73Asp)
n.185G>A
n.190G>A
c.3155G>A (p.Gly1052Asp)
c.3125G>A (p.Gly1042Asp)
c.2540G>A (p.Gly847Asp)
c.3251G>A (p.Gly1084Asp)
c.2477G>A (p.Gly826Asp)
c.2444G>A (p.Gly815Asp)
n.3478G>A
c.2657G>A (p.Gly886Asp)
n.3472G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53238268C>ACA413146986IQSEC2c.3313G>T (p.Gly1105Cys)
c.1106G>T
c.615G>T
c.444G>T
c.19G>T (p.Gly7Cys)
c.217G>T (p.Gly73Cys)
n.184G>T
n.189G>T
c.3154G>T (p.Gly1052Cys)
c.3124G>T (p.Gly1042Cys)
c.2539G>T (p.Gly847Cys)
c.3250G>T (p.Gly1084Cys)
c.2476G>T (p.Gly826Cys)
c.2443G>T (p.Gly815Cys)
n.3477G>T
c.2656G>T (p.Gly886Cys)
n.3471G>T
Xg.53238268C>GCA413146988IQSEC2c.3313G>C (p.Gly1105Arg)
c.1106G>C
c.615G>C
c.444G>C
c.19G>C (p.Gly7Arg)
c.217G>C (p.Gly73Arg)
n.184G>C
n.189G>C
c.3154G>C (p.Gly1052Arg)
c.3124G>C (p.Gly1042Arg)
c.2539G>C (p.Gly847Arg)
c.3250G>C (p.Gly1084Arg)
c.2476G>C (p.Gly826Arg)
c.2443G>C (p.Gly815Arg)
n.3477G>C
c.2656G>C (p.Gly886Arg)
n.3471G>C
Xg.53238268C>TCA413146990IQSEC2c.3313G>A (p.Gly1105Ser)
c.1106G>A
c.615G>A
c.444G>A
c.19G>A (p.Gly7Ser)
c.217G>A (p.Gly73Ser)
n.184G>A
n.189G>A
c.3154G>A (p.Gly1052Ser)
c.3124G>A (p.Gly1042Ser)
c.2539G>A (p.Gly847Ser)
c.3250G>A (p.Gly1084Ser)
c.2476G>A (p.Gly826Ser)
c.2443G>A (p.Gly815Ser)
n.3477G>A
c.2656G>A (p.Gly886Ser)
n.3471G>A
Xg.53238269A>CCA516422521IQSEC2c.3312T>G (p.Pro1104=)
c.1105T>G
c.614T>G
c.443T>G
c.18T>G (p.Pro6=)
c.216T>G (p.Pro72=)
n.183T>G
n.188T>G
c.3153T>G (p.Pro1051=)
c.3123T>G (p.Pro1041=)
c.2538T>G (p.Pro846=)
c.3249T>G (p.Pro1083=)
c.2475T>G (p.Pro825=)
c.2442T>G (p.Pro814=)
n.3476T>G
c.2655T>G (p.Pro885=)
n.3470T>G
Xg.53238269A>GCA516422525IQSEC2c.3312T>C (p.Pro1104=)
c.1105T>C
c.614T>C
c.443T>C
c.18T>C (p.Pro6=)
c.216T>C (p.Pro72=)
n.183T>C
n.188T>C
c.3153T>C (p.Pro1051=)
c.3123T>C (p.Pro1041=)
c.2538T>C (p.Pro846=)
c.3249T>C (p.Pro1083=)
c.2475T>C (p.Pro825=)
c.2442T>C (p.Pro814=)
n.3476T>C
c.2655T>C (p.Pro885=)
n.3470T>C
Xg.53238269A>TCA516422523IQSEC2c.3312T>A (p.Pro1104=)
c.1105T>A
c.614T>A
c.443T>A
c.18T>A (p.Pro6=)
c.216T>A (p.Pro72=)
n.183T>A
n.188T>A
c.3153T>A (p.Pro1051=)
c.3123T>A (p.Pro1041=)
c.2538T>A (p.Pro846=)
c.3249T>A (p.Pro1083=)
c.2475T>A (p.Pro825=)
c.2442T>A (p.Pro814=)
n.3476T>A
c.2655T>A (p.Pro885=)
n.3470T>A
Xg.53238270G>ACA413146992IQSEC2c.3311C>T (p.Pro1104Leu)
c.1104C>T
c.613C>T
c.442C>T
c.17C>T (p.Pro6Leu)
c.215C>T (p.Pro72Leu)
n.182C>T
n.187C>T
c.3152C>T (p.Pro1051Leu)
c.3122C>T (p.Pro1041Leu)
c.2537C>T (p.Pro846Leu)
c.3248C>T (p.Pro1083Leu)
c.2474C>T (p.Pro825Leu)
c.2441C>T (p.Pro814Leu)
n.3475C>T
c.2654C>T (p.Pro885Leu)
n.3469C>T
Xg.53238270G>CCA413146994IQSEC2c.3311C>G (p.Pro1104Arg)
c.1104C>G
c.613C>G
c.442C>G
c.17C>G (p.Pro6Arg)
c.215C>G (p.Pro72Arg)
n.182C>G
n.187C>G
c.3152C>G (p.Pro1051Arg)
c.3122C>G (p.Pro1041Arg)
c.2537C>G (p.Pro846Arg)
c.3248C>G (p.Pro1083Arg)
c.2474C>G (p.Pro825Arg)
c.2441C>G (p.Pro814Arg)
n.3475C>G
c.2654C>G (p.Pro885Arg)
n.3469C>G
Xg.53238270G>TCA413146996IQSEC2c.3311C>A (p.Pro1104His)
c.1104C>A
c.613C>A
c.442C>A
c.17C>A (p.Pro6His)
c.215C>A (p.Pro72His)
n.182C>A
n.187C>A
c.3152C>A (p.Pro1051His)
c.3122C>A (p.Pro1041His)
c.2537C>A (p.Pro846His)
c.3248C>A (p.Pro1083His)
c.2474C>A (p.Pro825His)
c.2441C>A (p.Pro814His)
n.3475C>A
c.2654C>A (p.Pro885His)
n.3469C>A
Xg.53238271G>ACA413146999IQSEC2c.3310C>T (p.Pro1104Ser)
c.1103C>T
c.612C>T
c.441C>T
c.16C>T (p.Pro6Ser)
c.214C>T (p.Pro72Ser)
n.181C>T
n.186C>T
c.3151C>T (p.Pro1051Ser)
c.3121C>T (p.Pro1041Ser)
c.2536C>T (p.Pro846Ser)
c.3247C>T (p.Pro1083Ser)
c.2473C>T (p.Pro825Ser)
c.2440C>T (p.Pro814Ser)
n.3474C>T
c.2653C>T (p.Pro885Ser)
n.3468C>T
Xg.53238271G>CCA413147003IQSEC2c.3310C>G (p.Pro1104Ala)
c.1103C>G
c.612C>G
c.441C>G
c.16C>G (p.Pro6Ala)
c.214C>G (p.Pro72Ala)
n.181C>G
n.186C>G
c.3151C>G (p.Pro1051Ala)
c.3121C>G (p.Pro1041Ala)
c.2536C>G (p.Pro846Ala)
c.3247C>G (p.Pro1083Ala)
c.2473C>G (p.Pro825Ala)
c.2440C>G (p.Pro814Ala)
n.3474C>G
c.2653C>G (p.Pro885Ala)
n.3468C>G
 ClinVar gnomAD v4
Xg.53238271G>TCA413147005IQSEC2c.3310C>A (p.Pro1104Thr)
c.1103C>A
c.612C>A
c.441C>A
c.16C>A (p.Pro6Thr)
c.214C>A (p.Pro72Thr)
n.181C>A
n.186C>A
c.3151C>A (p.Pro1051Thr)
c.3121C>A (p.Pro1041Thr)
c.2536C>A (p.Pro846Thr)
c.3247C>A (p.Pro1083Thr)
c.2473C>A (p.Pro825Thr)
c.2440C>A (p.Pro814Thr)
n.3474C>A
c.2653C>A (p.Pro885Thr)
n.3468C>A
Xg.53238272T>ACA516422543IQSEC2c.3309A>T (p.Val1103=)
c.1102A>T
c.611A>T
c.440A>T
c.15A>T (p.Val5=)
c.213A>T (p.Val71=)
n.180A>T
n.185A>T
c.3150A>T (p.Val1050=)
c.3120A>T (p.Val1040=)
c.2535A>T (p.Val845=)
c.3246A>T (p.Val1082=)
c.2472A>T (p.Val824=)
c.2439A>T (p.Val813=)
n.3473A>T
c.2652A>T (p.Val884=)
n.3467A>T
Xg.53238272T>CCA516422545IQSEC2c.3309A>G (p.Val1103=)
c.1102A>G
c.611A>G
c.440A>G
c.15A>G (p.Val5=)
c.213A>G (p.Val71=)
n.180A>G
n.185A>G
c.3150A>G (p.Val1050=)
c.3120A>G (p.Val1040=)
c.2535A>G (p.Val845=)
c.3246A>G (p.Val1082=)
c.2472A>G (p.Val824=)
c.2439A>G (p.Val813=)
n.3473A>G
c.2652A>G (p.Val884=)
n.3467A>G
Xg.53238272T>GCA516422547IQSEC2c.3309A>C (p.Val1103=)
c.1102A>C
c.611A>C
c.440A>C
c.15A>C (p.Val5=)
c.213A>C (p.Val71=)
n.180A>C
n.185A>C
c.3150A>C (p.Val1050=)
c.3120A>C (p.Val1040=)
c.2535A>C (p.Val845=)
c.3246A>C (p.Val1082=)
c.2472A>C (p.Val824=)
c.2439A>C (p.Val813=)
n.3473A>C
c.2652A>C (p.Val884=)
n.3467A>C

Number of alleles fetched