Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53255803C>ACA413170953IQSEC2c.1155G>T (p.Lys385Asn)
c.285G>T (p.Lys95Asn)
c.996G>T (p.Lys332Asn)
c.966G>T (p.Lys322Asn)
c.381G>T (p.Lys127Asn)
c.1092G>T (p.Lys364Asn)
c.318G>T (p.Lys106Asn)
n.1319G>T
c.498G>T (p.Lys166Asn)
n.1313G>T
Xg.53255803C>GCA413170955IQSEC2c.1155G>C (p.Lys385Asn)
c.285G>C (p.Lys95Asn)
c.996G>C (p.Lys332Asn)
c.966G>C (p.Lys322Asn)
c.381G>C (p.Lys127Asn)
c.1092G>C (p.Lys364Asn)
c.318G>C (p.Lys106Asn)
n.1319G>C
c.498G>C (p.Lys166Asn)
n.1313G>C
Xg.53255803C>TCA516674320IQSEC2c.1155G>A (p.Lys385=)
c.285G>A (p.Lys95=)
c.996G>A (p.Lys332=)
c.966G>A (p.Lys322=)
c.381G>A (p.Lys127=)
c.1092G>A (p.Lys364=)
c.318G>A (p.Lys106=)
n.1319G>A
c.498G>A (p.Lys166=)
n.1313G>A
Xg.53255804T>ACA413170960IQSEC2c.1154A>T (p.Lys385Met)
c.284A>T (p.Lys95Met)
c.995A>T (p.Lys332Met)
c.965A>T (p.Lys322Met)
c.380A>T (p.Lys127Met)
c.1091A>T (p.Lys364Met)
c.317A>T (p.Lys106Met)
n.1318A>T
c.497A>T (p.Lys166Met)
n.1312A>T
Xg.53255804T>CCA413170963IQSEC2c.1154A>G (p.Lys385Arg)
c.284A>G (p.Lys95Arg)
c.995A>G (p.Lys332Arg)
c.965A>G (p.Lys322Arg)
c.380A>G (p.Lys127Arg)
c.1091A>G (p.Lys364Arg)
c.317A>G (p.Lys106Arg)
n.1318A>G
c.497A>G (p.Lys166Arg)
n.1312A>G
Xg.53255804T>GCA413170958IQSEC2c.1154A>C (p.Lys385Thr)
c.284A>C (p.Lys95Thr)
c.995A>C (p.Lys332Thr)
c.965A>C (p.Lys322Thr)
c.380A>C (p.Lys127Thr)
c.1091A>C (p.Lys364Thr)
c.317A>C (p.Lys106Thr)
n.1318A>C
c.497A>C (p.Lys166Thr)
n.1312A>C
Xg.53255805T>ACA413170967IQSEC2c.1153A>T (p.Lys385Ter)
c.283A>T (p.Lys95Ter)
c.994A>T (p.Lys332Ter)
c.964A>T (p.Lys322Ter)
c.379A>T (p.Lys127Ter)
c.1090A>T (p.Lys364Ter)
c.316A>T (p.Lys106Ter)
n.1317A>T
c.496A>T (p.Lys166Ter)
n.1311A>T
Xg.53255805T>CCA413170969IQSEC2c.1153A>G (p.Lys385Glu)
c.283A>G (p.Lys95Glu)
c.994A>G (p.Lys332Glu)
c.964A>G (p.Lys322Glu)
c.379A>G (p.Lys127Glu)
c.1090A>G (p.Lys364Glu)
c.316A>G (p.Lys106Glu)
n.1317A>G
c.496A>G (p.Lys166Glu)
n.1311A>G
Xg.53255805T>GCA413170972IQSEC2c.1153A>C (p.Lys385Gln)
c.283A>C (p.Lys95Gln)
c.994A>C (p.Lys332Gln)
c.964A>C (p.Lys322Gln)
c.379A>C (p.Lys127Gln)
c.1090A>C (p.Lys364Gln)
c.316A>C (p.Lys106Gln)
n.1317A>C
c.496A>C (p.Lys166Gln)
n.1311A>C
Xg.53255806G>ACA516674325IQSEC2c.1152C>T (p.Asp384=)
c.282C>T (p.Asp94=)
c.993C>T (p.Asp331=)
c.963C>T (p.Asp321=)
c.378C>T (p.Asp126=)
c.1089C>T (p.Asp363=)
c.315C>T (p.Asp105=)
n.1316C>T
c.495C>T (p.Asp165=)
n.1310C>T
Xg.53255806G>CCA413170973IQSEC2c.1152C>G (p.Asp384Glu)
c.282C>G (p.Asp94Glu)
c.993C>G (p.Asp331Glu)
c.963C>G (p.Asp321Glu)
c.378C>G (p.Asp126Glu)
c.1089C>G (p.Asp363Glu)
c.315C>G (p.Asp105Glu)
n.1316C>G
c.495C>G (p.Asp165Glu)
n.1310C>G
Xg.53255806G>TCA413170975IQSEC2c.1152C>A (p.Asp384Glu)
c.282C>A (p.Asp94Glu)
c.993C>A (p.Asp331Glu)
c.963C>A (p.Asp321Glu)
c.378C>A (p.Asp126Glu)
c.1089C>A (p.Asp363Glu)
c.315C>A (p.Asp105Glu)
n.1316C>A
c.495C>A (p.Asp165Glu)
n.1310C>A
Xg.53255807T>ACA413170983IQSEC2c.1151A>T (p.Asp384Val)
c.281A>T (p.Asp94Val)
c.992A>T (p.Asp331Val)
c.962A>T (p.Asp321Val)
c.377A>T (p.Asp126Val)
c.1088A>T (p.Asp363Val)
c.314A>T (p.Asp105Val)
n.1315A>T
c.494A>T (p.Asp165Val)
n.1309A>T
Xg.53255807T>CCA413170986IQSEC2c.1151A>G (p.Asp384Gly)
c.281A>G (p.Asp94Gly)
c.992A>G (p.Asp331Gly)
c.962A>G (p.Asp321Gly)
c.377A>G (p.Asp126Gly)
c.1088A>G (p.Asp363Gly)
c.314A>G (p.Asp105Gly)
n.1315A>G
c.494A>G (p.Asp165Gly)
n.1309A>G
Xg.53255807T>GCA413170989IQSEC2c.1151A>C (p.Asp384Ala)
c.281A>C (p.Asp94Ala)
c.992A>C (p.Asp331Ala)
c.962A>C (p.Asp321Ala)
c.377A>C (p.Asp126Ala)
c.1088A>C (p.Asp363Ala)
c.314A>C (p.Asp105Ala)
n.1315A>C
c.494A>C (p.Asp165Ala)
n.1309A>C
Xg.53255808C>ACA413170993IQSEC2c.1150G>T (p.Asp384Tyr)
c.280G>T (p.Asp94Tyr)
c.991G>T (p.Asp331Tyr)
c.961G>T (p.Asp321Tyr)
c.376G>T (p.Asp126Tyr)
c.1087G>T (p.Asp363Tyr)
c.313G>T (p.Asp105Tyr)
n.1314G>T
c.493G>T (p.Asp165Tyr)
n.1308G>T
 COSMIC COSMIC COSMIC
Xg.53255808C=CA2429777166IQSEC2c.1150G= (p.Asp384=)
c.280G= (p.Asp94=)
c.991G= (p.Asp331=)
c.961G= (p.Asp321=)
c.376G= (p.Asp126=)
c.1087G= (p.Asp363=)
c.313G= (p.Asp105=)
n.1314G=
c.493G= (p.Asp165=)
n.1308G=
Xg.53255808C>GCA413170994IQSEC2c.1150G>C (p.Asp384His)
c.280G>C (p.Asp94His)
c.991G>C (p.Asp331His)
c.961G>C (p.Asp321His)
c.376G>C (p.Asp126His)
c.1087G>C (p.Asp363His)
c.313G>C (p.Asp105His)
n.1314G>C
c.493G>C (p.Asp165His)
n.1308G>C
Xg.53255808C>TCA413170997IQSEC2c.1150G>A (p.Asp384Asn)
c.280G>A (p.Asp94Asn)
c.991G>A (p.Asp331Asn)
c.961G>A (p.Asp321Asn)
c.376G>A (p.Asp126Asn)
c.1087G>A (p.Asp363Asn)
c.313G>A (p.Asp105Asn)
n.1314G>A
c.493G>A (p.Asp165Asn)
n.1308G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53255809C>ACA413171000IQSEC2c.1149G>T (p.Gln383His)
c.279G>T (p.Gln93His)
c.990G>T (p.Gln330His)
c.960G>T (p.Gln320His)
c.375G>T (p.Gln125His)
c.1086G>T (p.Gln362His)
c.312G>T (p.Gln104His)
n.1313G>T
c.492G>T (p.Gln164His)
n.1307G>T
Xg.53255809C=CA2429777167IQSEC2c.1149G= (p.Gln383=)
c.279G= (p.Gln93=)
c.990G= (p.Gln330=)
c.960G= (p.Gln320=)
c.375G= (p.Gln125=)
c.1086G= (p.Gln362=)
c.312G= (p.Gln104=)
n.1313G=
c.492G= (p.Gln164=)
n.1307G=
Xg.53255809C>GCA413171003IQSEC2c.1149G>C (p.Gln383His)
c.279G>C (p.Gln93His)
c.990G>C (p.Gln330His)
c.960G>C (p.Gln320His)
c.375G>C (p.Gln125His)
c.1086G>C (p.Gln362His)
c.312G>C (p.Gln104His)
n.1313G>C
c.492G>C (p.Gln164His)
n.1307G>C
Xg.53255809C>TCA516674327IQSEC2c.1149G>A (p.Gln383=)
c.279G>A (p.Gln93=)
c.990G>A (p.Gln330=)
c.960G>A (p.Gln320=)
c.375G>A (p.Gln125=)
c.1086G>A (p.Gln362=)
c.312G>A (p.Gln104=)
n.1313G>A
c.492G>A (p.Gln164=)
n.1307G>A
 dbSNP gnomAD v4
Xg.53255810T>ACA413171010IQSEC2c.1148A>T (p.Gln383Leu)
c.278A>T (p.Gln93Leu)
c.989A>T (p.Gln330Leu)
c.959A>T (p.Gln320Leu)
c.374A>T (p.Gln125Leu)
c.1085A>T (p.Gln362Leu)
c.311A>T (p.Gln104Leu)
n.1312A>T
c.491A>T (p.Gln164Leu)
n.1306A>T
Xg.53255810T>CCA413171007IQSEC2c.1148A>G (p.Gln383Arg)
c.278A>G (p.Gln93Arg)
c.989A>G (p.Gln330Arg)
c.959A>G (p.Gln320Arg)
c.374A>G (p.Gln125Arg)
c.1085A>G (p.Gln362Arg)
c.311A>G (p.Gln104Arg)
n.1312A>G
c.491A>G (p.Gln164Arg)
n.1306A>G
Xg.53255810T>GCA413171005IQSEC2c.1148A>C (p.Gln383Pro)
c.278A>C (p.Gln93Pro)
c.989A>C (p.Gln330Pro)
c.959A>C (p.Gln320Pro)
c.374A>C (p.Gln125Pro)
c.1085A>C (p.Gln362Pro)
c.311A>C (p.Gln104Pro)
n.1312A>C
c.491A>C (p.Gln164Pro)
n.1306A>C
Xg.53255811G>ACA413171013IQSEC2c.1147C>T (p.Gln383Ter)
c.277C>T (p.Gln93Ter)
c.988C>T (p.Gln330Ter)
c.958C>T (p.Gln320Ter)
c.373C>T (p.Gln125Ter)
c.1084C>T (p.Gln362Ter)
c.310C>T (p.Gln104Ter)
n.1311C>T
c.490C>T (p.Gln164Ter)
n.1305C>T
Xg.53255811G>CCA413171014IQSEC2c.1147C>G (p.Gln383Glu)
c.277C>G (p.Gln93Glu)
c.988C>G (p.Gln330Glu)
c.958C>G (p.Gln320Glu)
c.373C>G (p.Gln125Glu)
c.1084C>G (p.Gln362Glu)
c.310C>G (p.Gln104Glu)
n.1311C>G
c.490C>G (p.Gln164Glu)
n.1305C>G
Xg.53255811G>TCA413171016IQSEC2c.1147C>A (p.Gln383Lys)
c.277C>A (p.Gln93Lys)
c.988C>A (p.Gln330Lys)
c.958C>A (p.Gln320Lys)
c.373C>A (p.Gln125Lys)
c.1084C>A (p.Gln362Lys)
c.310C>A (p.Gln104Lys)
n.1311C>A
c.490C>A (p.Gln164Lys)
n.1305C>A
Xg.53255812C>ACA516674331IQSEC2c.1146G>T (p.Leu382=)
c.276G>T (p.Leu92=)
c.987G>T (p.Leu329=)
c.957G>T (p.Leu319=)
c.372G>T (p.Leu124=)
c.1083G>T (p.Leu361=)
c.309G>T (p.Leu103=)
n.1310G>T
c.489G>T (p.Leu163=)
n.1304G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53255812C=CA2429777168IQSEC2c.1146G= (p.Leu382=)
c.276G= (p.Leu92=)
c.987G= (p.Leu329=)
c.957G= (p.Leu319=)
c.372G= (p.Leu124=)
c.1083G= (p.Leu361=)
c.309G= (p.Leu103=)
n.1310G=
c.489G= (p.Leu163=)
n.1304G=
Xg.53255812C>GCA516674332IQSEC2c.1146G>C (p.Leu382=)
c.276G>C (p.Leu92=)
c.987G>C (p.Leu329=)
c.957G>C (p.Leu319=)
c.372G>C (p.Leu124=)
c.1083G>C (p.Leu361=)
c.309G>C (p.Leu103=)
n.1310G>C
c.489G>C (p.Leu163=)
n.1304G>C
Xg.53255812C>TCA516674333IQSEC2c.1146G>A (p.Leu382=)
c.276G>A (p.Leu92=)
c.987G>A (p.Leu329=)
c.957G>A (p.Leu319=)
c.372G>A (p.Leu124=)
c.1083G>A (p.Leu361=)
c.309G>A (p.Leu103=)
n.1310G>A
c.489G>A (p.Leu163=)
n.1304G>A
Xg.53255813A>CCA413171019IQSEC2c.1145T>G (p.Leu382Arg)
c.275T>G (p.Leu92Arg)
c.986T>G (p.Leu329Arg)
c.956T>G (p.Leu319Arg)
c.371T>G (p.Leu124Arg)
c.1082T>G (p.Leu361Arg)
c.308T>G (p.Leu103Arg)
n.1309T>G
c.488T>G (p.Leu163Arg)
n.1303T>G
Xg.53255813A>GCA413171021IQSEC2c.1145T>C (p.Leu382Pro)
c.275T>C (p.Leu92Pro)
c.986T>C (p.Leu329Pro)
c.956T>C (p.Leu319Pro)
c.371T>C (p.Leu124Pro)
c.1082T>C (p.Leu361Pro)
c.308T>C (p.Leu103Pro)
n.1309T>C
c.488T>C (p.Leu163Pro)
n.1303T>C
Xg.53255813A>TCA413171023IQSEC2c.1145T>A (p.Leu382Gln)
c.275T>A (p.Leu92Gln)
c.986T>A (p.Leu329Gln)
c.956T>A (p.Leu319Gln)
c.371T>A (p.Leu124Gln)
c.1082T>A (p.Leu361Gln)
c.308T>A (p.Leu103Gln)
n.1309T>A
c.488T>A (p.Leu163Gln)
n.1303T>A
Xg.53255814G>ACA516674335IQSEC2c.1144C>T (p.Leu382=)
c.274C>T (p.Leu92=)
c.985C>T (p.Leu329=)
c.955C>T (p.Leu319=)
c.370C>T (p.Leu124=)
c.1081C>T (p.Leu361=)
c.307C>T (p.Leu103=)
n.1308C>T
c.487C>T (p.Leu163=)
n.1302C>T
Xg.53255814G>CCA413171025IQSEC2c.1144C>G (p.Leu382Val)
c.274C>G (p.Leu92Val)
c.985C>G (p.Leu329Val)
c.955C>G (p.Leu319Val)
c.370C>G (p.Leu124Val)
c.1081C>G (p.Leu361Val)
c.307C>G (p.Leu103Val)
n.1308C>G
c.487C>G (p.Leu163Val)
n.1302C>G
Xg.53255814G>TCA413171027IQSEC2c.1144C>A (p.Leu382Met)
c.274C>A (p.Leu92Met)
c.985C>A (p.Leu329Met)
c.955C>A (p.Leu319Met)
c.370C>A (p.Leu124Met)
c.1081C>A (p.Leu361Met)
c.307C>A (p.Leu103Met)
n.1308C>A
c.487C>A (p.Leu163Met)
n.1302C>A
Xg.53255815G>ACA516674336IQSEC2c.1143C>T (p.Asp381=)
c.273C>T (p.Asp91=)
c.984C>T (p.Asp328=)
c.954C>T (p.Asp318=)
c.369C>T (p.Asp123=)
c.1080C>T (p.Asp360=)
c.306C>T (p.Asp102=)
n.1307C>T
c.486C>T (p.Asp162=)
n.1301C>T
Xg.53255815G>CCA413171030IQSEC2c.1143C>G (p.Asp381Glu)
c.273C>G (p.Asp91Glu)
c.984C>G (p.Asp328Glu)
c.954C>G (p.Asp318Glu)
c.369C>G (p.Asp123Glu)
c.1080C>G (p.Asp360Glu)
c.306C>G (p.Asp102Glu)
n.1307C>G
c.486C>G (p.Asp162Glu)
n.1301C>G
Xg.53255815G>TCA413171032IQSEC2c.1143C>A (p.Asp381Glu)
c.273C>A (p.Asp91Glu)
c.984C>A (p.Asp328Glu)
c.954C>A (p.Asp318Glu)
c.369C>A (p.Asp123Glu)
c.1080C>A (p.Asp360Glu)
c.306C>A (p.Asp102Glu)
n.1307C>A
c.486C>A (p.Asp162Glu)
n.1301C>A
Xg.53255816T>ACA413171035IQSEC2c.1142A>T (p.Asp381Val)
c.272A>T (p.Asp91Val)
c.983A>T (p.Asp328Val)
c.953A>T (p.Asp318Val)
c.368A>T (p.Asp123Val)
c.1079A>T (p.Asp360Val)
c.305A>T (p.Asp102Val)
n.1306A>T
c.485A>T (p.Asp162Val)
n.1300A>T
Xg.53255816T>CCA413171037IQSEC2c.1142A>G (p.Asp381Gly)
c.272A>G (p.Asp91Gly)
c.983A>G (p.Asp328Gly)
c.953A>G (p.Asp318Gly)
c.368A>G (p.Asp123Gly)
c.1079A>G (p.Asp360Gly)
c.305A>G (p.Asp102Gly)
n.1306A>G
c.485A>G (p.Asp162Gly)
n.1300A>G
Xg.53255816T>GCA413171040IQSEC2c.1142A>C (p.Asp381Ala)
c.272A>C (p.Asp91Ala)
c.983A>C (p.Asp328Ala)
c.953A>C (p.Asp318Ala)
c.368A>C (p.Asp123Ala)
c.1079A>C (p.Asp360Ala)
c.305A>C (p.Asp102Ala)
n.1306A>C
c.485A>C (p.Asp162Ala)
n.1300A>C
Xg.53255817C>ACA413171046IQSEC2c.1141G>T (p.Asp381Tyr)
c.271G>T (p.Asp91Tyr)
c.982G>T (p.Asp328Tyr)
c.952G>T (p.Asp318Tyr)
c.367G>T (p.Asp123Tyr)
c.1078G>T (p.Asp360Tyr)
c.304G>T (p.Asp102Tyr)
n.1305G>T
c.484G>T (p.Asp162Tyr)
n.1299G>T
Xg.53255817C>GCA413171049IQSEC2c.1141G>C (p.Asp381His)
c.271G>C (p.Asp91His)
c.982G>C (p.Asp328His)
c.952G>C (p.Asp318His)
c.367G>C (p.Asp123His)
c.1078G>C (p.Asp360His)
c.304G>C (p.Asp102His)
n.1305G>C
c.484G>C (p.Asp162His)
n.1299G>C
Xg.53255817C>TCA413171045IQSEC2c.1141G>A (p.Asp381Asn)
c.271G>A (p.Asp91Asn)
c.982G>A (p.Asp328Asn)
c.952G>A (p.Asp318Asn)
c.367G>A (p.Asp123Asn)
c.1078G>A (p.Asp360Asn)
c.304G>A (p.Asp102Asn)
n.1305G>A
c.484G>A (p.Asp162Asn)
n.1299G>A
Xg.53255818T>ACA516674338IQSEC2c.1140A>T (p.Thr380=)
c.270A>T (p.Thr90=)
c.981A>T (p.Thr327=)
c.951A>T (p.Thr317=)
c.366A>T (p.Thr122=)
c.1077A>T (p.Thr359=)
c.303A>T (p.Thr101=)
n.1304A>T
c.483A>T (p.Thr161=)
n.1298A>T
 COSMIC COSMIC COSMIC
Xg.53255818T>CCA516674340IQSEC2c.1140A>G (p.Thr380=)
c.270A>G (p.Thr90=)
c.981A>G (p.Thr327=)
c.951A>G (p.Thr317=)
c.366A>G (p.Thr122=)
c.1077A>G (p.Thr359=)
c.303A>G (p.Thr101=)
n.1304A>G
c.483A>G (p.Thr161=)
n.1298A>G
Xg.53255818T>GCA516674342IQSEC2c.1140A>C (p.Thr380=)
c.270A>C (p.Thr90=)
c.981A>C (p.Thr327=)
c.951A>C (p.Thr317=)
c.366A>C (p.Thr122=)
c.1077A>C (p.Thr359=)
c.303A>C (p.Thr101=)
n.1304A>C
c.483A>C (p.Thr161=)
n.1298A>C
Xg.53255819G>ACA10420120IQSEC2c.1139C>T (p.Thr380Ile)
c.269C>T (p.Thr90Ile)
c.980C>T (p.Thr327Ile)
c.950C>T (p.Thr317Ile)
c.365C>T (p.Thr122Ile)
c.1076C>T (p.Thr359Ile)
c.302C>T (p.Thr101Ile)
n.1303C>T
c.482C>T (p.Thr161Ile)
n.1297C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53255819G>CCA413171052IQSEC2c.1139C>G (p.Thr380Arg)
c.269C>G (p.Thr90Arg)
c.980C>G (p.Thr327Arg)
c.950C>G (p.Thr317Arg)
c.365C>G (p.Thr122Arg)
c.1076C>G (p.Thr359Arg)
c.302C>G (p.Thr101Arg)
n.1303C>G
c.482C>G (p.Thr161Arg)
n.1297C>G
Xg.53255819G=CA2429777169IQSEC2c.1139C= (p.Thr380=)
c.269C= (p.Thr90=)
c.980C= (p.Thr327=)
c.950C= (p.Thr317=)
c.365C= (p.Thr122=)
c.1076C= (p.Thr359=)
c.302C= (p.Thr101=)
n.1303C=
c.482C= (p.Thr161=)
n.1297C=
Xg.53255819G>TCA413171054IQSEC2c.1139C>A (p.Thr380Lys)
c.269C>A (p.Thr90Lys)
c.980C>A (p.Thr327Lys)
c.950C>A (p.Thr317Lys)
c.365C>A (p.Thr122Lys)
c.1076C>A (p.Thr359Lys)
c.302C>A (p.Thr101Lys)
n.1303C>A
c.482C>A (p.Thr161Lys)
n.1297C>A
Xg.53255820T>ACA413171059IQSEC2c.1138A>T (p.Thr380Ser)
c.268A>T (p.Thr90Ser)
c.979A>T (p.Thr327Ser)
c.949A>T (p.Thr317Ser)
c.364A>T (p.Thr122Ser)
c.1075A>T (p.Thr359Ser)
c.301A>T (p.Thr101Ser)
n.1302A>T
c.481A>T (p.Thr161Ser)
n.1296A>T
Xg.53255820T>CCA413171061IQSEC2c.1138A>G (p.Thr380Ala)
c.268A>G (p.Thr90Ala)
c.979A>G (p.Thr327Ala)
c.949A>G (p.Thr317Ala)
c.364A>G (p.Thr122Ala)
c.1075A>G (p.Thr359Ala)
c.301A>G (p.Thr101Ala)
n.1302A>G
c.481A>G (p.Thr161Ala)
n.1296A>G
Xg.53255820T>GCA413171063IQSEC2c.1138A>C (p.Thr380Pro)
c.268A>C (p.Thr90Pro)
c.979A>C (p.Thr327Pro)
c.949A>C (p.Thr317Pro)
c.364A>C (p.Thr122Pro)
c.1075A>C (p.Thr359Pro)
c.301A>C (p.Thr101Pro)
n.1302A>C
c.481A>C (p.Thr161Pro)
n.1296A>C
Xg.53255821G>ACA516674346IQSEC2c.1137C>T (p.Ser379=)
c.267C>T (p.Ser89=)
c.978C>T (p.Ser326=)
c.948C>T (p.Ser316=)
c.363C>T (p.Ser121=)
c.1074C>T (p.Ser358=)
c.300C>T (p.Ser100=)
n.1301C>T
c.480C>T (p.Ser160=)
n.1295C>T
Xg.53255821G>CCA516674347IQSEC2c.1137C>G (p.Ser379=)
c.267C>G (p.Ser89=)
c.978C>G (p.Ser326=)
c.948C>G (p.Ser316=)
c.363C>G (p.Ser121=)
c.1074C>G (p.Ser358=)
c.300C>G (p.Ser100=)
n.1301C>G
c.480C>G (p.Ser160=)
n.1295C>G
Xg.53255821G>TCA516674348IQSEC2c.1137C>A (p.Ser379=)
c.267C>A (p.Ser89=)
c.978C>A (p.Ser326=)
c.948C>A (p.Ser316=)
c.363C>A (p.Ser121=)
c.1074C>A (p.Ser358=)
c.300C>A (p.Ser100=)
n.1301C>A
c.480C>A (p.Ser160=)
n.1295C>A
Xg.53255822G>ACA413171072IQSEC2c.1136C>T (p.Ser379Phe)
c.266C>T (p.Ser89Phe)
c.977C>T (p.Ser326Phe)
c.947C>T (p.Ser316Phe)
c.362C>T (p.Ser121Phe)
c.1073C>T (p.Ser358Phe)
c.299C>T (p.Ser100Phe)
n.1300C>T
c.479C>T (p.Ser160Phe)
n.1294C>T
 COSMIC COSMIC COSMIC
Xg.53255822G>CCA413171070IQSEC2c.1136C>G (p.Ser379Cys)
c.266C>G (p.Ser89Cys)
c.977C>G (p.Ser326Cys)
c.947C>G (p.Ser316Cys)
c.362C>G (p.Ser121Cys)
c.1073C>G (p.Ser358Cys)
c.299C>G (p.Ser100Cys)
n.1300C>G
c.479C>G (p.Ser160Cys)
n.1294C>G
Xg.53255822G>TCA413171067IQSEC2c.1136C>A (p.Ser379Tyr)
c.266C>A (p.Ser89Tyr)
c.977C>A (p.Ser326Tyr)
c.947C>A (p.Ser316Tyr)
c.362C>A (p.Ser121Tyr)
c.1073C>A (p.Ser358Tyr)
c.299C>A (p.Ser100Tyr)
n.1300C>A
c.479C>A (p.Ser160Tyr)
n.1294C>A
Xg.53255823A>CCA413171075IQSEC2c.1135T>G (p.Ser379Ala)
c.265T>G (p.Ser89Ala)
c.976T>G (p.Ser326Ala)
c.946T>G (p.Ser316Ala)
c.361T>G (p.Ser121Ala)
c.1072T>G (p.Ser358Ala)
c.298T>G (p.Ser100Ala)
n.1299T>G
c.478T>G (p.Ser160Ala)
n.1293T>G
Xg.53255823A>GCA413171077IQSEC2c.1135T>C (p.Ser379Pro)
c.265T>C (p.Ser89Pro)
c.976T>C (p.Ser326Pro)
c.946T>C (p.Ser316Pro)
c.361T>C (p.Ser121Pro)
c.1072T>C (p.Ser358Pro)
c.298T>C (p.Ser100Pro)
n.1299T>C
c.478T>C (p.Ser160Pro)
n.1293T>C
Xg.53255823A>TCA413171080IQSEC2c.1135T>A (p.Ser379Thr)
c.265T>A (p.Ser89Thr)
c.976T>A (p.Ser326Thr)
c.946T>A (p.Ser316Thr)
c.361T>A (p.Ser121Thr)
c.1072T>A (p.Ser358Thr)
c.298T>A (p.Ser100Thr)
n.1299T>A
c.478T>A (p.Ser160Thr)
n.1293T>A
Xg.53255824G>ACA516674350IQSEC2c.1134C>T (p.Leu378=)
c.264C>T (p.Leu88=)
c.975C>T (p.Leu325=)
c.945C>T (p.Leu315=)
c.360C>T (p.Leu120=)
c.1071C>T (p.Leu357=)
c.297C>T (p.Leu99=)
n.1298C>T
c.477C>T (p.Leu159=)
n.1292C>T
 dbSNP
Xg.53255824G>CCA516674351IQSEC2c.1134C>G (p.Leu378=)
c.264C>G (p.Leu88=)
c.975C>G (p.Leu325=)
c.945C>G (p.Leu315=)
c.360C>G (p.Leu120=)
c.1071C>G (p.Leu357=)
c.297C>G (p.Leu99=)
n.1298C>G
c.477C>G (p.Leu159=)
n.1292C>G
Xg.53255824G=CA2429777170IQSEC2c.1134C= (p.Leu378=)
c.264C= (p.Leu88=)
c.975C= (p.Leu325=)
c.945C= (p.Leu315=)
c.360C= (p.Leu120=)
c.1071C= (p.Leu357=)
c.297C= (p.Leu99=)
n.1298C=
c.477C= (p.Leu159=)
n.1292C=
Xg.53255824G>TCA516674353IQSEC2c.1134C>A (p.Leu378=)
c.264C>A (p.Leu88=)
c.975C>A (p.Leu325=)
c.945C>A (p.Leu315=)
c.360C>A (p.Leu120=)
c.1071C>A (p.Leu357=)
c.297C>A (p.Leu99=)
n.1298C>A
c.477C>A (p.Leu159=)
n.1292C>A
Xg.53255825A>CCA413171083IQSEC2c.1133T>G (p.Leu378Arg)
c.263T>G (p.Leu88Arg)
c.974T>G (p.Leu325Arg)
c.944T>G (p.Leu315Arg)
c.359T>G (p.Leu120Arg)
c.1070T>G (p.Leu357Arg)
c.296T>G (p.Leu99Arg)
n.1297T>G
c.476T>G (p.Leu159Arg)
n.1291T>G
Xg.53255825A>GCA413171085IQSEC2c.1133T>C (p.Leu378Pro)
c.263T>C (p.Leu88Pro)
c.974T>C (p.Leu325Pro)
c.944T>C (p.Leu315Pro)
c.359T>C (p.Leu120Pro)
c.1070T>C (p.Leu357Pro)
c.296T>C (p.Leu99Pro)
n.1297T>C
c.476T>C (p.Leu159Pro)
n.1291T>C
Xg.53255825A>TCA413171087IQSEC2c.1133T>A (p.Leu378His)
c.263T>A (p.Leu88His)
c.974T>A (p.Leu325His)
c.944T>A (p.Leu315His)
c.359T>A (p.Leu120His)
c.1070T>A (p.Leu357His)
c.296T>A (p.Leu99His)
n.1297T>A
c.476T>A (p.Leu159His)
n.1291T>A
Xg.53255826G>ACA413171089IQSEC2c.1132C>T (p.Leu378Phe)
c.262C>T (p.Leu88Phe)
c.973C>T (p.Leu325Phe)
c.943C>T (p.Leu315Phe)
c.358C>T (p.Leu120Phe)
c.1069C>T (p.Leu357Phe)
c.295C>T (p.Leu99Phe)
n.1296C>T
c.475C>T (p.Leu159Phe)
n.1290C>T
Xg.53255826G>CCA413171093IQSEC2c.1132C>G (p.Leu378Val)
c.262C>G (p.Leu88Val)
c.973C>G (p.Leu325Val)
c.943C>G (p.Leu315Val)
c.358C>G (p.Leu120Val)
c.1069C>G (p.Leu357Val)
c.295C>G (p.Leu99Val)
n.1296C>G
c.475C>G (p.Leu159Val)
n.1290C>G
Xg.53255826G>TCA413171091IQSEC2c.1132C>A (p.Leu378Ile)
c.262C>A (p.Leu88Ile)
c.973C>A (p.Leu325Ile)
c.943C>A (p.Leu315Ile)
c.358C>A (p.Leu120Ile)
c.1069C>A (p.Leu357Ile)
c.295C>A (p.Leu99Ile)
n.1296C>A
c.475C>A (p.Leu159Ile)
n.1290C>A
Xg.53255827T>ACA413171096IQSEC2c.1131A>T (p.Glu377Asp)
c.261A>T (p.Glu87Asp)
c.972A>T (p.Glu324Asp)
c.942A>T (p.Glu314Asp)
c.357A>T (p.Glu119Asp)
c.1068A>T (p.Glu356Asp)
c.294A>T (p.Glu98Asp)
n.1295A>T
c.474A>T (p.Glu158Asp)
n.1289A>T
Xg.53255827T>CCA10420121IQSEC2c.1131A>G (p.Glu377=)
c.261A>G (p.Glu87=)
c.972A>G (p.Glu324=)
c.942A>G (p.Glu314=)
c.357A>G (p.Glu119=)
c.1068A>G (p.Glu356=)
c.294A>G (p.Glu98=)
n.1295A>G
c.474A>G (p.Glu158=)
n.1289A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53255827T>GCA413171098IQSEC2c.1131A>C (p.Glu377Asp)
c.261A>C (p.Glu87Asp)
c.972A>C (p.Glu324Asp)
c.942A>C (p.Glu314Asp)
c.357A>C (p.Glu119Asp)
c.1068A>C (p.Glu356Asp)
c.294A>C (p.Glu98Asp)
n.1295A>C
c.474A>C (p.Glu158Asp)
n.1289A>C
Xg.53255827T=CA2429777171IQSEC2c.1131A= (p.Glu377=)
c.261A= (p.Glu87=)
c.972A= (p.Glu324=)
c.942A= (p.Glu314=)
c.357A= (p.Glu119=)
c.1068A= (p.Glu356=)
c.294A= (p.Glu98=)
n.1295A=
c.474A= (p.Glu158=)
n.1289A=
Xg.53255828T>ACA413171102IQSEC2c.1130A>T (p.Glu377Val)
c.260A>T (p.Glu87Val)
c.971A>T (p.Glu324Val)
c.941A>T (p.Glu314Val)
c.356A>T (p.Glu119Val)
c.1067A>T (p.Glu356Val)
c.293A>T (p.Glu98Val)
n.1294A>T
c.473A>T (p.Glu158Val)
n.1288A>T
Xg.53255828T>CCA413171104IQSEC2c.1130A>G (p.Glu377Gly)
c.260A>G (p.Glu87Gly)
c.971A>G (p.Glu324Gly)
c.941A>G (p.Glu314Gly)
c.356A>G (p.Glu119Gly)
c.1067A>G (p.Glu356Gly)
c.293A>G (p.Glu98Gly)
n.1294A>G
c.473A>G (p.Glu158Gly)
n.1288A>G
Xg.53255828T>GCA413171107IQSEC2c.1130A>C (p.Glu377Ala)
c.260A>C (p.Glu87Ala)
c.971A>C (p.Glu324Ala)
c.941A>C (p.Glu314Ala)
c.356A>C (p.Glu119Ala)
c.1067A>C (p.Glu356Ala)
c.293A>C (p.Glu98Ala)
n.1294A>C
c.473A>C (p.Glu158Ala)
n.1288A>C
Xg.53255829C>ACA413171111IQSEC2c.1129G>T (p.Glu377Ter)
c.259G>T (p.Glu87Ter)
c.970G>T (p.Glu324Ter)
c.940G>T (p.Glu314Ter)
c.355G>T (p.Glu119Ter)
c.1066G>T (p.Glu356Ter)
c.292G>T (p.Glu98Ter)
n.1293G>T
c.472G>T (p.Glu158Ter)
n.1287G>T
Xg.53255829C>GCA413171113IQSEC2c.1129G>C (p.Glu377Gln)
c.259G>C (p.Glu87Gln)
c.970G>C (p.Glu324Gln)
c.940G>C (p.Glu314Gln)
c.355G>C (p.Glu119Gln)
c.1066G>C (p.Glu356Gln)
c.292G>C (p.Glu98Gln)
n.1293G>C
c.472G>C (p.Glu158Gln)
n.1287G>C
Xg.53255829C>TCA413171116IQSEC2c.1129G>A (p.Glu377Lys)
c.259G>A (p.Glu87Lys)
c.970G>A (p.Glu324Lys)
c.940G>A (p.Glu314Lys)
c.355G>A (p.Glu119Lys)
c.1066G>A (p.Glu356Lys)
c.292G>A (p.Glu98Lys)
n.1293G>A
c.472G>A (p.Glu158Lys)
n.1287G>A
Xg.53255830A>CCA413171119IQSEC2c.1128T>G (p.Tyr376Ter)
c.258T>G (p.Tyr86Ter)
c.969T>G (p.Tyr323Ter)
c.939T>G (p.Tyr313Ter)
c.354T>G (p.Tyr118Ter)
c.1065T>G (p.Tyr355Ter)
c.291T>G (p.Tyr97Ter)
n.1292T>G
c.471T>G (p.Tyr157Ter)
n.1286T>G
Xg.53255830A>GCA516674358IQSEC2c.1128T>C (p.Tyr376=)
c.258T>C (p.Tyr86=)
c.969T>C (p.Tyr323=)
c.939T>C (p.Tyr313=)
c.354T>C (p.Tyr118=)
c.1065T>C (p.Tyr355=)
c.291T>C (p.Tyr97=)
n.1292T>C
c.471T>C (p.Tyr157=)
n.1286T>C
Xg.53255830A>TCA413171121IQSEC2c.1128T>A (p.Tyr376Ter)
c.258T>A (p.Tyr86Ter)
c.969T>A (p.Tyr323Ter)
c.939T>A (p.Tyr313Ter)
c.354T>A (p.Tyr118Ter)
c.1065T>A (p.Tyr355Ter)
c.291T>A (p.Tyr97Ter)
n.1292T>A
c.471T>A (p.Tyr157Ter)
n.1286T>A
Xg.53255831T>ACA413171131IQSEC2c.1127A>T (p.Tyr376Phe)
c.257A>T (p.Tyr86Phe)
c.968A>T (p.Tyr323Phe)
c.938A>T (p.Tyr313Phe)
c.353A>T (p.Tyr118Phe)
c.1064A>T (p.Tyr355Phe)
c.290A>T (p.Tyr97Phe)
n.1291A>T
c.470A>T (p.Tyr157Phe)
n.1285A>T
Xg.53255831T>CCA413171129IQSEC2c.1127A>G (p.Tyr376Cys)
c.257A>G (p.Tyr86Cys)
c.968A>G (p.Tyr323Cys)
c.938A>G (p.Tyr313Cys)
c.353A>G (p.Tyr118Cys)
c.1064A>G (p.Tyr355Cys)
c.290A>G (p.Tyr97Cys)
n.1291A>G
c.470A>G (p.Tyr157Cys)
n.1285A>G
 ClinVar
Xg.53255831T>GCA413171126IQSEC2c.1127A>C (p.Tyr376Ser)
c.257A>C (p.Tyr86Ser)
c.968A>C (p.Tyr323Ser)
c.938A>C (p.Tyr313Ser)
c.353A>C (p.Tyr118Ser)
c.1064A>C (p.Tyr355Ser)
c.290A>C (p.Tyr97Ser)
n.1291A>C
c.470A>C (p.Tyr157Ser)
n.1285A>C
Xg.53255832A>CCA413171134IQSEC2c.1126T>G (p.Tyr376Asp)
c.256T>G (p.Tyr86Asp)
c.967T>G (p.Tyr323Asp)
c.937T>G (p.Tyr313Asp)
c.352T>G (p.Tyr118Asp)
c.1063T>G (p.Tyr355Asp)
c.289T>G (p.Tyr97Asp)
n.1290T>G
c.469T>G (p.Tyr157Asp)
n.1284T>G
Xg.53255832A>GCA413171137IQSEC2c.1126T>C (p.Tyr376His)
c.256T>C (p.Tyr86His)
c.967T>C (p.Tyr323His)
c.937T>C (p.Tyr313His)
c.352T>C (p.Tyr118His)
c.1063T>C (p.Tyr355His)
c.289T>C (p.Tyr97His)
n.1290T>C
c.469T>C (p.Tyr157His)
n.1284T>C
Xg.53255832A>TCA413171139IQSEC2c.1126T>A (p.Tyr376Asn)
c.256T>A (p.Tyr86Asn)
c.967T>A (p.Tyr323Asn)
c.937T>A (p.Tyr313Asn)
c.352T>A (p.Tyr118Asn)
c.1063T>A (p.Tyr355Asn)
c.289T>A (p.Tyr97Asn)
n.1290T>A
c.469T>A (p.Tyr157Asn)
n.1284T>A
Xg.53255833G>ACA516674361IQSEC2c.1125C>T (p.Ser375=)
c.255C>T (p.Ser85=)
c.966C>T (p.Ser322=)
c.936C>T (p.Ser312=)
c.351C>T (p.Ser117=)
c.1062C>T (p.Ser354=)
c.288C>T (p.Ser96=)
n.1289C>T
c.468C>T (p.Ser156=)
n.1283C>T
Xg.53255833G>CCA413171142IQSEC2c.1125C>G (p.Ser375Arg)
c.255C>G (p.Ser85Arg)
c.966C>G (p.Ser322Arg)
c.936C>G (p.Ser312Arg)
c.351C>G (p.Ser117Arg)
c.1062C>G (p.Ser354Arg)
c.288C>G (p.Ser96Arg)
n.1289C>G
c.468C>G (p.Ser156Arg)
n.1283C>G
Xg.53255833G>TCA413171145IQSEC2c.1125C>A (p.Ser375Arg)
c.255C>A (p.Ser85Arg)
c.966C>A (p.Ser322Arg)
c.936C>A (p.Ser312Arg)
c.351C>A (p.Ser117Arg)
c.1062C>A (p.Ser354Arg)
c.288C>A (p.Ser96Arg)
n.1289C>A
c.468C>A (p.Ser156Arg)
n.1283C>A
Xg.53255834C>ACA413171148IQSEC2c.1124G>T (p.Ser375Ile)
c.254G>T (p.Ser85Ile)
c.965G>T (p.Ser322Ile)
c.935G>T (p.Ser312Ile)
c.350G>T (p.Ser117Ile)
c.1061G>T (p.Ser354Ile)
c.287G>T (p.Ser96Ile)
n.1288G>T
c.467G>T (p.Ser156Ile)
n.1282G>T
Xg.53255834C=CA2429777172IQSEC2c.1124G= (p.Ser375=)
c.254G= (p.Ser85=)
c.965G= (p.Ser322=)
c.935G= (p.Ser312=)
c.350G= (p.Ser117=)
c.1061G= (p.Ser354=)
c.287G= (p.Ser96=)
n.1288G=
c.467G= (p.Ser156=)
n.1282G=
Xg.53255834C>GCA413171151IQSEC2c.1124G>C (p.Ser375Thr)
c.254G>C (p.Ser85Thr)
c.965G>C (p.Ser322Thr)
c.935G>C (p.Ser312Thr)
c.350G>C (p.Ser117Thr)
c.1061G>C (p.Ser354Thr)
c.287G>C (p.Ser96Thr)
n.1288G>C
c.467G>C (p.Ser156Thr)
n.1282G>C
Xg.53255834C>TCA10420122IQSEC2c.1124G>A (p.Ser375Asn)
c.254G>A (p.Ser85Asn)
c.965G>A (p.Ser322Asn)
c.935G>A (p.Ser312Asn)
c.350G>A (p.Ser117Asn)
c.1061G>A (p.Ser354Asn)
c.287G>A (p.Ser96Asn)
n.1288G>A
c.467G>A (p.Ser156Asn)
n.1282G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53255835T>ACA413171157IQSEC2c.1123A>T (p.Ser375Cys)
c.253A>T (p.Ser85Cys)
c.964A>T (p.Ser322Cys)
c.934A>T (p.Ser312Cys)
c.349A>T (p.Ser117Cys)
c.1060A>T (p.Ser354Cys)
c.286A>T (p.Ser96Cys)
n.1287A>T
c.466A>T (p.Ser156Cys)
n.1281A>T
Xg.53255835T>CCA413171159IQSEC2c.1123A>G (p.Ser375Gly)
c.253A>G (p.Ser85Gly)
c.964A>G (p.Ser322Gly)
c.934A>G (p.Ser312Gly)
c.349A>G (p.Ser117Gly)
c.1060A>G (p.Ser354Gly)
c.286A>G (p.Ser96Gly)
n.1287A>G
c.466A>G (p.Ser156Gly)
n.1281A>G
Xg.53255835T>GCA413171161IQSEC2c.1123A>C (p.Ser375Arg)
c.253A>C (p.Ser85Arg)
c.964A>C (p.Ser322Arg)
c.934A>C (p.Ser312Arg)
c.349A>C (p.Ser117Arg)
c.1060A>C (p.Ser354Arg)
c.286A>C (p.Ser96Arg)
n.1287A>C
c.466A>C (p.Ser156Arg)
n.1281A>C
Xg.53255836G>ACA516674362IQSEC2c.1122C>T (p.Asp374=)
c.252C>T (p.Asp84=)
c.963C>T (p.Asp321=)
c.933C>T (p.Asp311=)
c.348C>T (p.Asp116=)
c.1059C>T (p.Asp353=)
c.285C>T (p.Asp95=)
n.1286C>T
c.465C>T (p.Asp155=)
n.1280C>T
Xg.53255836G>CCA413171164IQSEC2c.1122C>G (p.Asp374Glu)
c.252C>G (p.Asp84Glu)
c.963C>G (p.Asp321Glu)
c.933C>G (p.Asp311Glu)
c.348C>G (p.Asp116Glu)
c.1059C>G (p.Asp353Glu)
c.285C>G (p.Asp95Glu)
n.1286C>G
c.465C>G (p.Asp155Glu)
n.1280C>G
Xg.53255836G>TCA413171166IQSEC2c.1122C>A (p.Asp374Glu)
c.252C>A (p.Asp84Glu)
c.963C>A (p.Asp321Glu)
c.933C>A (p.Asp311Glu)
c.348C>A (p.Asp116Glu)
c.1059C>A (p.Asp353Glu)
c.285C>A (p.Asp95Glu)
n.1286C>A
c.465C>A (p.Asp155Glu)
n.1280C>A
Xg.53255837T>ACA413171174IQSEC2c.1121A>T (p.Asp374Val)
c.251A>T (p.Asp84Val)
c.962A>T (p.Asp321Val)
c.932A>T (p.Asp311Val)
c.347A>T (p.Asp116Val)
c.1058A>T (p.Asp353Val)
c.284A>T (p.Asp95Val)
n.1285A>T
c.464A>T (p.Asp155Val)
n.1279A>T
Xg.53255837T>CCA413171177IQSEC2c.1121A>G (p.Asp374Gly)
c.251A>G (p.Asp84Gly)
c.962A>G (p.Asp321Gly)
c.932A>G (p.Asp311Gly)
c.347A>G (p.Asp116Gly)
c.1058A>G (p.Asp353Gly)
c.284A>G (p.Asp95Gly)
n.1285A>G
c.464A>G (p.Asp155Gly)
n.1279A>G
Xg.53255837T>GCA413171171IQSEC2c.1121A>C (p.Asp374Ala)
c.251A>C (p.Asp84Ala)
c.962A>C (p.Asp321Ala)
c.932A>C (p.Asp311Ala)
c.347A>C (p.Asp116Ala)
c.1058A>C (p.Asp353Ala)
c.284A>C (p.Asp95Ala)
n.1285A>C
c.464A>C (p.Asp155Ala)
n.1279A>C
Xg.53255838C>ACA413171180IQSEC2c.1120G>T (p.Asp374Tyr)
c.250G>T (p.Asp84Tyr)
c.961G>T (p.Asp321Tyr)
c.931G>T (p.Asp311Tyr)
c.346G>T (p.Asp116Tyr)
c.1057G>T (p.Asp353Tyr)
c.283G>T (p.Asp95Tyr)
n.1284G>T
c.463G>T (p.Asp155Tyr)
n.1278G>T
Xg.53255838C>GCA413171183IQSEC2c.1120G>C (p.Asp374His)
c.250G>C (p.Asp84His)
c.961G>C (p.Asp321His)
c.931G>C (p.Asp311His)
c.346G>C (p.Asp116His)
c.1057G>C (p.Asp353His)
c.283G>C (p.Asp95His)
n.1284G>C
c.463G>C (p.Asp155His)
n.1278G>C
Xg.53255838C>TCA413171185IQSEC2c.1120G>A (p.Asp374Asn)
c.250G>A (p.Asp84Asn)
c.961G>A (p.Asp321Asn)
c.931G>A (p.Asp311Asn)
c.346G>A (p.Asp116Asn)
c.1057G>A (p.Asp353Asn)
c.283G>A (p.Asp95Asn)
n.1284G>A
c.463G>A (p.Asp155Asn)
n.1278G>A
Xg.53255839C>ACA516674365IQSEC2c.1119G>T (p.Ser373=)
c.249G>T (p.Ser83=)
c.960G>T (p.Ser320=)
c.930G>T (p.Ser310=)
c.345G>T (p.Ser115=)
c.1056G>T (p.Ser352=)
c.282G>T (p.Ser94=)
n.1283G>T
c.462G>T (p.Ser154=)
n.1277G>T
Xg.53255839C=CA2429777173IQSEC2c.1119G= (p.Ser373=)
c.249G= (p.Ser83=)
c.960G= (p.Ser320=)
c.930G= (p.Ser310=)
c.345G= (p.Ser115=)
c.1056G= (p.Ser352=)
c.282G= (p.Ser94=)
n.1283G=
c.462G= (p.Ser154=)
n.1277G=
Xg.53255839C>GCA516674366IQSEC2c.1119G>C (p.Ser373=)
c.249G>C (p.Ser83=)
c.960G>C (p.Ser320=)
c.930G>C (p.Ser310=)
c.345G>C (p.Ser115=)
c.1056G>C (p.Ser352=)
c.282G>C (p.Ser94=)
n.1283G>C
c.462G>C (p.Ser154=)
n.1277G>C
 ClinVar dbSNP
Xg.53255839C>TCA10420123IQSEC2c.1119G>A (p.Ser373=)
c.249G>A (p.Ser83=)
c.960G>A (p.Ser320=)
c.930G>A (p.Ser310=)
c.345G>A (p.Ser115=)
c.1056G>A (p.Ser352=)
c.282G>A (p.Ser94=)
n.1283G>A
c.462G>A (p.Ser154=)
n.1277G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53255840G>ACA413171196IQSEC2c.1118C>T (p.Ser373Leu)
c.248C>T (p.Ser83Leu)
c.959C>T (p.Ser320Leu)
c.929C>T (p.Ser310Leu)
c.344C>T (p.Ser115Leu)
c.1055C>T (p.Ser352Leu)
c.281C>T (p.Ser94Leu)
n.1282C>T
c.461C>T (p.Ser154Leu)
n.1276C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53255840G>CCA413171193IQSEC2c.1118C>G (p.Ser373Trp)
c.248C>G (p.Ser83Trp)
c.959C>G (p.Ser320Trp)
c.929C>G (p.Ser310Trp)
c.344C>G (p.Ser115Trp)
c.1055C>G (p.Ser352Trp)
c.281C>G (p.Ser94Trp)
n.1282C>G
c.461C>G (p.Ser154Trp)
n.1276C>G
Xg.53255840G=CA2429777174IQSEC2c.1118C= (p.Ser373=)
c.248C= (p.Ser83=)
c.959C= (p.Ser320=)
c.929C= (p.Ser310=)
c.344C= (p.Ser115=)
c.1055C= (p.Ser352=)
c.281C= (p.Ser94=)
n.1282C=
c.461C= (p.Ser154=)
n.1276C=
Xg.53255840G>TCA413171189IQSEC2c.1118C>A (p.Ser373Ter)
c.248C>A (p.Ser83Ter)
c.959C>A (p.Ser320Ter)
c.929C>A (p.Ser310Ter)
c.344C>A (p.Ser115Ter)
c.1055C>A (p.Ser352Ter)
c.281C>A (p.Ser94Ter)
n.1282C>A
c.461C>A (p.Ser154Ter)
n.1276C>A
Xg.53255841A>CCA413171199IQSEC2c.1117T>G (p.Ser373Ala)
c.247T>G (p.Ser83Ala)
c.958T>G (p.Ser320Ala)
c.928T>G (p.Ser310Ala)
c.343T>G (p.Ser115Ala)
c.1054T>G (p.Ser352Ala)
c.280T>G (p.Ser94Ala)
n.1281T>G
c.460T>G (p.Ser154Ala)
n.1275T>G
Xg.53255841A>GCA413171201IQSEC2c.1117T>C (p.Ser373Pro)
c.247T>C (p.Ser83Pro)
c.958T>C (p.Ser320Pro)
c.928T>C (p.Ser310Pro)
c.343T>C (p.Ser115Pro)
c.1054T>C (p.Ser352Pro)
c.280T>C (p.Ser94Pro)
n.1281T>C
c.460T>C (p.Ser154Pro)
n.1275T>C
Xg.53255841A>TCA413171203IQSEC2c.1117T>A (p.Ser373Thr)
c.247T>A (p.Ser83Thr)
c.958T>A (p.Ser320Thr)
c.928T>A (p.Ser310Thr)
c.343T>A (p.Ser115Thr)
c.1054T>A (p.Ser352Thr)
c.280T>A (p.Ser94Thr)
n.1281T>A
c.460T>A (p.Ser154Thr)
n.1275T>A
Xg.53255842T>ACA516674370IQSEC2c.1116A>T (p.Leu372=)
c.246A>T (p.Leu82=)
c.957A>T (p.Leu319=)
c.927A>T (p.Leu309=)
c.342A>T (p.Leu114=)
c.1053A>T (p.Leu351=)
c.279A>T (p.Leu93=)
n.1280A>T
c.459A>T (p.Leu153=)
n.1274A>T
Xg.53255842T>CCA10420124IQSEC2c.1116A>G (p.Leu372=)
c.246A>G (p.Leu82=)
c.957A>G (p.Leu319=)
c.927A>G (p.Leu309=)
c.342A>G (p.Leu114=)
c.1053A>G (p.Leu351=)
c.279A>G (p.Leu93=)
n.1280A>G
c.459A>G (p.Leu153=)
n.1274A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53255842T>GCA516674371IQSEC2c.1116A>C (p.Leu372=)
c.246A>C (p.Leu82=)
c.957A>C (p.Leu319=)
c.927A>C (p.Leu309=)
c.342A>C (p.Leu114=)
c.1053A>C (p.Leu351=)
c.279A>C (p.Leu93=)
n.1280A>C
c.459A>C (p.Leu153=)
n.1274A>C
Xg.53255842T=CA2429777175IQSEC2c.1116A= (p.Leu372=)
c.246A= (p.Leu82=)
c.957A= (p.Leu319=)
c.927A= (p.Leu309=)
c.342A= (p.Leu114=)
c.1053A= (p.Leu351=)
c.279A= (p.Leu93=)
n.1280A=
c.459A= (p.Leu153=)
n.1274A=
Xg.53255842_53255843delinsTACA2429777176IQSEC2c.1115_1116delinsTA (p.Leu372=)
c.245_246delinsTA (p.Leu82=)
c.956_957delinsTA (p.Leu319=)
c.926_927delinsTA (p.Leu309=)
c.341_342delinsTA (p.Leu114=)
c.1052_1053delinsTA (p.Leu351=)
c.278_279delinsTA (p.Leu93=)
n.1279_1280delinsTA
c.458_459delinsTA (p.Leu153=)
n.1273_1274delinsTA
Xg.53255843delCA1139667575IQSEC2c.1115del (p.Leu372HisfsTer28)
c.245del (p.Leu82HisfsTer28)
c.956del (p.Leu319HisfsTer28)
c.926del (p.Leu309HisfsTer28)
c.341del (p.Leu114HisfsTer28)
c.1052del (p.Leu351HisfsTer28)
c.278del (p.Leu93HisfsTer28)
n.1279del
c.458del (p.Leu153HisfsTer28)
n.1273del
 ClinVar dbSNP
Xg.53255843A>CCA413171206IQSEC2c.1115T>G (p.Leu372Arg)
c.245T>G (p.Leu82Arg)
c.956T>G (p.Leu319Arg)
c.926T>G (p.Leu309Arg)
c.341T>G (p.Leu114Arg)
c.1052T>G (p.Leu351Arg)
c.278T>G (p.Leu93Arg)
n.1279T>G
c.458T>G (p.Leu153Arg)
n.1273T>G
Xg.53255843A>GCA413171207IQSEC2c.1115T>C (p.Leu372Pro)
c.245T>C (p.Leu82Pro)
c.956T>C (p.Leu319Pro)
c.926T>C (p.Leu309Pro)
c.341T>C (p.Leu114Pro)
c.1052T>C (p.Leu351Pro)
c.278T>C (p.Leu93Pro)
n.1279T>C
c.458T>C (p.Leu153Pro)
n.1273T>C
Xg.53255843A>TCA413171209IQSEC2c.1115T>A (p.Leu372Gln)
c.245T>A (p.Leu82Gln)
c.956T>A (p.Leu319Gln)
c.926T>A (p.Leu309Gln)
c.341T>A (p.Leu114Gln)
c.1052T>A (p.Leu351Gln)
c.278T>A (p.Leu93Gln)
n.1279T>A
c.458T>A (p.Leu153Gln)
n.1273T>A
Xg.53255844G>ACA516674372IQSEC2c.1114C>T (p.Leu372=)
c.244C>T (p.Leu82=)
c.955C>T (p.Leu319=)
c.925C>T (p.Leu309=)
c.340C>T (p.Leu114=)
c.1051C>T (p.Leu351=)
c.277C>T (p.Leu93=)
n.1278C>T
c.457C>T (p.Leu153=)
n.1272C>T
 gnomAD v4
Xg.53255844G>CCA413171216IQSEC2c.1114C>G (p.Leu372Val)
c.244C>G (p.Leu82Val)
c.955C>G (p.Leu319Val)
c.925C>G (p.Leu309Val)
c.340C>G (p.Leu114Val)
c.1051C>G (p.Leu351Val)
c.277C>G (p.Leu93Val)
n.1278C>G
c.457C>G (p.Leu153Val)
n.1272C>G
Xg.53255844G>TCA413171213IQSEC2c.1114C>A (p.Leu372Ile)
c.244C>A (p.Leu82Ile)
c.955C>A (p.Leu319Ile)
c.925C>A (p.Leu309Ile)
c.340C>A (p.Leu114Ile)
c.1051C>A (p.Leu351Ile)
c.277C>A (p.Leu93Ile)
n.1278C>A
c.457C>A (p.Leu153Ile)
n.1272C>A
Xg.53255845G>ACA516674373IQSEC2c.1113C>T (p.Ala371=)
c.243C>T (p.Ala81=)
c.954C>T (p.Ala318=)
c.924C>T (p.Ala308=)
c.339C>T (p.Ala113=)
c.1050C>T (p.Ala350=)
c.276C>T (p.Ala92=)
n.1277C>T
c.456C>T (p.Ala152=)
n.1271C>T
Xg.53255845G>CCA516674374IQSEC2c.1113C>G (p.Ala371=)
c.243C>G (p.Ala81=)
c.954C>G (p.Ala318=)
c.924C>G (p.Ala308=)
c.339C>G (p.Ala113=)
c.1050C>G (p.Ala350=)
c.276C>G (p.Ala92=)
n.1277C>G
c.456C>G (p.Ala152=)
n.1271C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53255845G=CA2429777177IQSEC2c.1113C= (p.Ala371=)
c.243C= (p.Ala81=)
c.954C= (p.Ala318=)
c.924C= (p.Ala308=)
c.339C= (p.Ala113=)
c.1050C= (p.Ala350=)
c.276C= (p.Ala92=)
n.1277C=
c.456C= (p.Ala152=)
n.1271C=
Xg.53255845G>TCA516674376IQSEC2c.1113C>A (p.Ala371=)
c.243C>A (p.Ala81=)
c.954C>A (p.Ala318=)
c.924C>A (p.Ala308=)
c.339C>A (p.Ala113=)
c.1050C>A (p.Ala350=)
c.276C>A (p.Ala92=)
n.1277C>A
c.456C>A (p.Ala152=)
n.1271C>A
Xg.53255846G>ACA413171221IQSEC2c.1112C>T (p.Ala371Val)
c.242C>T (p.Ala81Val)
c.953C>T (p.Ala318Val)
c.923C>T (p.Ala308Val)
c.338C>T (p.Ala113Val)
c.1049C>T (p.Ala350Val)
c.275C>T (p.Ala92Val)
n.1276C>T
c.455C>T (p.Ala152Val)
n.1270C>T
Xg.53255846G>CCA413171226IQSEC2c.1112C>G (p.Ala371Gly)
c.242C>G (p.Ala81Gly)
c.953C>G (p.Ala318Gly)
c.923C>G (p.Ala308Gly)
c.338C>G (p.Ala113Gly)
c.1049C>G (p.Ala350Gly)
c.275C>G (p.Ala92Gly)
n.1276C>G
c.455C>G (p.Ala152Gly)
n.1270C>G
Xg.53255846G>TCA413171223IQSEC2c.1112C>A (p.Ala371Asp)
c.242C>A (p.Ala81Asp)
c.953C>A (p.Ala318Asp)
c.923C>A (p.Ala308Asp)
c.338C>A (p.Ala113Asp)
c.1049C>A (p.Ala350Asp)
c.275C>A (p.Ala92Asp)
n.1276C>A
c.455C>A (p.Ala152Asp)
n.1270C>A
Xg.53255847C>ACA413171228IQSEC2c.1111G>T (p.Ala371Ser)
c.241G>T (p.Ala81Ser)
c.952G>T (p.Ala318Ser)
c.922G>T (p.Ala308Ser)
c.337G>T (p.Ala113Ser)
c.1048G>T (p.Ala350Ser)
c.274G>T (p.Ala92Ser)
n.1275G>T
c.454G>T (p.Ala152Ser)
n.1269G>T
 ClinVar
Xg.53255847C=CA2429777178IQSEC2c.1111G= (p.Ala371=)
c.241G= (p.Ala81=)
c.952G= (p.Ala318=)
c.922G= (p.Ala308=)
c.337G= (p.Ala113=)
c.1048G= (p.Ala350=)
c.274G= (p.Ala92=)
n.1275G=
c.454G= (p.Ala152=)
n.1269G=
Xg.53255847C>GCA413171231IQSEC2c.1111G>C (p.Ala371Pro)
c.241G>C (p.Ala81Pro)
c.952G>C (p.Ala318Pro)
c.922G>C (p.Ala308Pro)
c.337G>C (p.Ala113Pro)
c.1048G>C (p.Ala350Pro)
c.274G>C (p.Ala92Pro)
n.1275G>C
c.454G>C (p.Ala152Pro)
n.1269G>C
Xg.53255847C>TCA10420125IQSEC2c.1111G>A (p.Ala371Thr)
c.241G>A (p.Ala81Thr)
c.952G>A (p.Ala318Thr)
c.922G>A (p.Ala308Thr)
c.337G>A (p.Ala113Thr)
c.1048G>A (p.Ala350Thr)
c.274G>A (p.Ala92Thr)
n.1275G>A
c.454G>A (p.Ala152Thr)
n.1269G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53255848C>ACA413171232IQSEC2c.1110G>T (p.Lys370Asn)
c.240G>T (p.Lys80Asn)
c.951G>T (p.Lys317Asn)
c.921G>T (p.Lys307Asn)
c.336G>T (p.Lys112Asn)
c.1047G>T (p.Lys349Asn)
c.273G>T (p.Lys91Asn)
n.1274G>T
c.453G>T (p.Lys151Asn)
n.1268G>T
Xg.53255848C>GCA413171233IQSEC2c.1110G>C (p.Lys370Asn)
c.240G>C (p.Lys80Asn)
c.951G>C (p.Lys317Asn)
c.921G>C (p.Lys307Asn)
c.336G>C (p.Lys112Asn)
c.1047G>C (p.Lys349Asn)
c.273G>C (p.Lys91Asn)
n.1274G>C
c.453G>C (p.Lys151Asn)
n.1268G>C
Xg.53255848C>TCA516674377IQSEC2c.1110G>A (p.Lys370=)
c.240G>A (p.Lys80=)
c.951G>A (p.Lys317=)
c.921G>A (p.Lys307=)
c.336G>A (p.Lys112=)
c.1047G>A (p.Lys349=)
c.273G>A (p.Lys91=)
n.1274G>A
c.453G>A (p.Lys151=)
n.1268G>A
Xg.53255849T>ACA413171234IQSEC2c.1109A>T (p.Lys370Met)
c.239A>T (p.Lys80Met)
c.950A>T (p.Lys317Met)
c.920A>T (p.Lys307Met)
c.335A>T (p.Lys112Met)
c.1046A>T (p.Lys349Met)
c.272A>T (p.Lys91Met)
n.1273A>T
c.452A>T (p.Lys151Met)
n.1267A>T
Xg.53255849T>CCA413171240IQSEC2c.1109A>G (p.Lys370Arg)
c.239A>G (p.Lys80Arg)
c.950A>G (p.Lys317Arg)
c.920A>G (p.Lys307Arg)
c.335A>G (p.Lys112Arg)
c.1046A>G (p.Lys349Arg)
c.272A>G (p.Lys91Arg)
n.1273A>G
c.452A>G (p.Lys151Arg)
n.1267A>G
Xg.53255849T>GCA413171237IQSEC2c.1109A>C (p.Lys370Thr)
c.239A>C (p.Lys80Thr)
c.950A>C (p.Lys317Thr)
c.920A>C (p.Lys307Thr)
c.335A>C (p.Lys112Thr)
c.1046A>C (p.Lys349Thr)
c.272A>C (p.Lys91Thr)
n.1273A>C
c.452A>C (p.Lys151Thr)
n.1267A>C
Xg.53255850T>ACA413171242IQSEC2c.1108A>T (p.Lys370Ter)
c.238A>T (p.Lys80Ter)
c.949A>T (p.Lys317Ter)
c.919A>T (p.Lys307Ter)
c.334A>T (p.Lys112Ter)
c.1045A>T (p.Lys349Ter)
c.271A>T (p.Lys91Ter)
n.1272A>T
c.451A>T (p.Lys151Ter)
n.1266A>T
Xg.53255850T>CCA413171249IQSEC2c.1108A>G (p.Lys370Glu)
c.238A>G (p.Lys80Glu)
c.949A>G (p.Lys317Glu)
c.919A>G (p.Lys307Glu)
c.334A>G (p.Lys112Glu)
c.1045A>G (p.Lys349Glu)
c.271A>G (p.Lys91Glu)
n.1272A>G
c.451A>G (p.Lys151Glu)
n.1266A>G
Xg.53255850T>GCA413171245IQSEC2c.1108A>C (p.Lys370Gln)
c.238A>C (p.Lys80Gln)
c.949A>C (p.Lys317Gln)
c.919A>C (p.Lys307Gln)
c.334A>C (p.Lys112Gln)
c.1045A>C (p.Lys349Gln)
c.271A>C (p.Lys91Gln)
n.1272A>C
c.451A>C (p.Lys151Gln)
n.1266A>C
Xg.53255851G>ACA516674382IQSEC2c.1107C>T (p.Ser369=)
c.237C>T (p.Ser79=)
c.948C>T (p.Ser316=)
c.918C>T (p.Ser306=)
c.333C>T (p.Ser111=)
c.1044C>T (p.Ser348=)
c.270C>T (p.Ser90=)
n.1271C>T
c.450C>T (p.Ser150=)
n.1265C>T
 gnomAD v4
Xg.53255851G>CCA516674383IQSEC2c.1107C>G (p.Ser369=)
c.237C>G (p.Ser79=)
c.948C>G (p.Ser316=)
c.918C>G (p.Ser306=)
c.333C>G (p.Ser111=)
c.1044C>G (p.Ser348=)
c.270C>G (p.Ser90=)
n.1271C>G
c.450C>G (p.Ser150=)
n.1265C>G
Xg.53255851G>TCA516674384IQSEC2c.1107C>A (p.Ser369=)
c.237C>A (p.Ser79=)
c.948C>A (p.Ser316=)
c.918C>A (p.Ser306=)
c.333C>A (p.Ser111=)
c.1044C>A (p.Ser348=)
c.270C>A (p.Ser90=)
n.1271C>A
c.450C>A (p.Ser150=)
n.1265C>A
Xg.53255852G>ACA413171252IQSEC2c.1106C>T (p.Ser369Phe)
c.236C>T (p.Ser79Phe)
c.947C>T (p.Ser316Phe)
c.917C>T (p.Ser306Phe)
c.332C>T (p.Ser111Phe)
c.1043C>T (p.Ser348Phe)
c.269C>T (p.Ser90Phe)
n.1270C>T
c.449C>T (p.Ser150Phe)
n.1264C>T
Xg.53255852G>CCA413171259IQSEC2c.1106C>G (p.Ser369Cys)
c.236C>G (p.Ser79Cys)
c.947C>G (p.Ser316Cys)
c.917C>G (p.Ser306Cys)
c.332C>G (p.Ser111Cys)
c.1043C>G (p.Ser348Cys)
c.269C>G (p.Ser90Cys)
n.1270C>G
c.449C>G (p.Ser150Cys)
n.1264C>G
Xg.53255852G>TCA413171255IQSEC2c.1106C>A (p.Ser369Tyr)
c.236C>A (p.Ser79Tyr)
c.947C>A (p.Ser316Tyr)
c.917C>A (p.Ser306Tyr)
c.332C>A (p.Ser111Tyr)
c.1043C>A (p.Ser348Tyr)
c.269C>A (p.Ser90Tyr)
n.1270C>A
c.449C>A (p.Ser150Tyr)
n.1264C>A
Xg.53255853A>CCA413171261IQSEC2c.1105T>G (p.Ser369Ala)
c.235T>G (p.Ser79Ala)
c.946T>G (p.Ser316Ala)
c.916T>G (p.Ser306Ala)
c.331T>G (p.Ser111Ala)
c.1042T>G (p.Ser348Ala)
c.268T>G (p.Ser90Ala)
n.1269T>G
c.448T>G (p.Ser150Ala)
n.1263T>G
Xg.53255853A>GCA413171264IQSEC2c.1105T>C (p.Ser369Pro)
c.235T>C (p.Ser79Pro)
c.946T>C (p.Ser316Pro)
c.916T>C (p.Ser306Pro)
c.331T>C (p.Ser111Pro)
c.1042T>C (p.Ser348Pro)
c.268T>C (p.Ser90Pro)
n.1269T>C
c.448T>C (p.Ser150Pro)
n.1263T>C
Xg.53255853A>TCA413171263IQSEC2c.1105T>A (p.Ser369Thr)
c.235T>A (p.Ser79Thr)
c.946T>A (p.Ser316Thr)
c.916T>A (p.Ser306Thr)
c.331T>A (p.Ser111Thr)
c.1042T>A (p.Ser348Thr)
c.268T>A (p.Ser90Thr)
n.1269T>A
c.448T>A (p.Ser150Thr)
n.1263T>A
Xg.53255854G>ACA516674386IQSEC2c.1104C>T (p.Arg368=)
c.234C>T (p.Arg78=)
c.945C>T (p.Arg315=)
c.915C>T (p.Arg305=)
c.330C>T (p.Arg110=)
c.1041C>T (p.Arg347=)
c.267C>T (p.Arg89=)
n.1268C>T
c.447C>T (p.Arg149=)
n.1262C>T
Xg.53255854G>CCA516674387IQSEC2c.1104C>G (p.Arg368=)
c.234C>G (p.Arg78=)
c.945C>G (p.Arg315=)
c.915C>G (p.Arg305=)
c.330C>G (p.Arg110=)
c.1041C>G (p.Arg347=)
c.267C>G (p.Arg89=)
n.1268C>G
c.447C>G (p.Arg149=)
n.1262C>G
Xg.53255854G>TCA516674388IQSEC2c.1104C>A (p.Arg368=)
c.234C>A (p.Arg78=)
c.945C>A (p.Arg315=)
c.915C>A (p.Arg305=)
c.330C>A (p.Arg110=)
c.1041C>A (p.Arg347=)
c.267C>A (p.Arg89=)
n.1268C>A
c.447C>A (p.Arg149=)
n.1262C>A
Xg.53255855C>ACA413171266IQSEC2c.1103G>T (p.Arg368Leu)
c.233G>T (p.Arg78Leu)
c.944G>T (p.Arg315Leu)
c.914G>T (p.Arg305Leu)
c.329G>T (p.Arg110Leu)
c.1040G>T (p.Arg347Leu)
c.266G>T (p.Arg89Leu)
n.1267G>T
c.446G>T (p.Arg149Leu)
n.1261G>T
Xg.53255855C=CA2429777179IQSEC2c.1103G= (p.Arg368=)
c.233G= (p.Arg78=)
c.944G= (p.Arg315=)
c.914G= (p.Arg305=)
c.329G= (p.Arg110=)
c.1040G= (p.Arg347=)
c.266G= (p.Arg89=)
n.1267G=
c.446G= (p.Arg149=)
n.1261G=
Xg.53255855C>GCA413171269IQSEC2c.1103G>C (p.Arg368Pro)
c.233G>C (p.Arg78Pro)
c.944G>C (p.Arg315Pro)
c.914G>C (p.Arg305Pro)
c.329G>C (p.Arg110Pro)
c.1040G>C (p.Arg347Pro)
c.266G>C (p.Arg89Pro)
n.1267G>C
c.446G>C (p.Arg149Pro)
n.1261G>C
Xg.53255855C>TCA10420126IQSEC2c.1103G>A (p.Arg368His)
c.233G>A (p.Arg78His)
c.944G>A (p.Arg315His)
c.914G>A (p.Arg305His)
c.329G>A (p.Arg110His)
c.1040G>A (p.Arg347His)
c.266G>A (p.Arg89His)
n.1267G>A
c.446G>A (p.Arg149His)
n.1261G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53255856G>ACA413171275IQSEC2c.1102C>T (p.Arg368Cys)
c.232C>T (p.Arg78Cys)
c.943C>T (p.Arg315Cys)
c.913C>T (p.Arg305Cys)
c.328C>T (p.Arg110Cys)
c.1039C>T (p.Arg347Cys)
c.265C>T (p.Arg89Cys)
n.1266C>T
c.445C>T (p.Arg149Cys)
n.1260C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53255856G>CCA413171278IQSEC2c.1102C>G (p.Arg368Gly)
c.232C>G (p.Arg78Gly)
c.943C>G (p.Arg315Gly)
c.913C>G (p.Arg305Gly)
c.328C>G (p.Arg110Gly)
c.1039C>G (p.Arg347Gly)
c.265C>G (p.Arg89Gly)
n.1266C>G
c.445C>G (p.Arg149Gly)
n.1260C>G
Xg.53255856G=CA2429777180IQSEC2c.1102C= (p.Arg368=)
c.232C= (p.Arg78=)
c.943C= (p.Arg315=)
c.913C= (p.Arg305=)
c.328C= (p.Arg110=)
c.1039C= (p.Arg347=)
c.265C= (p.Arg89=)
n.1266C=
c.445C= (p.Arg149=)
n.1260C=
Xg.53255856G>TCA413171281IQSEC2c.1102C>A (p.Arg368Ser)
c.232C>A (p.Arg78Ser)
c.943C>A (p.Arg315Ser)
c.913C>A (p.Arg305Ser)
c.328C>A (p.Arg110Ser)
c.1039C>A (p.Arg347Ser)
c.265C>A (p.Arg89Ser)
n.1266C>A
c.445C>A (p.Arg149Ser)
n.1260C>A
Xg.53255856dupCA2580101223IQSEC2c.1102dup (p.Arg368ProfsTer10)
c.232dup (p.Arg78ProfsTer10)
c.943dup (p.Arg315ProfsTer10)
c.913dup (p.Arg305ProfsTer10)
c.328dup (p.Arg110ProfsTer10)
c.1039dup (p.Arg347ProfsTer10)
c.265dup (p.Arg89ProfsTer10)
n.1266dup
c.445dup (p.Arg149ProfsTer10)
n.1260dup
 ClinVar dbSNP
Xg.53255857C>ACA413171287IQSEC2c.1101G>T (p.Lys367Asn)
c.231G>T (p.Lys77Asn)
c.942G>T (p.Lys314Asn)
c.912G>T (p.Lys304Asn)
c.327G>T (p.Lys109Asn)
c.1038G>T (p.Lys346Asn)
c.264G>T (p.Lys88Asn)
n.1265G>T
c.444G>T (p.Lys148Asn)
n.1259G>T
Xg.53255857C=CA2429777181IQSEC2c.1101G= (p.Lys367=)
c.231G= (p.Lys77=)
c.942G= (p.Lys314=)
c.912G= (p.Lys304=)
c.327G= (p.Lys109=)
c.1038G= (p.Lys346=)
c.264G= (p.Lys88=)
n.1265G=
c.444G= (p.Lys148=)
n.1259G=
Xg.53255857C>GCA413171290IQSEC2c.1101G>C (p.Lys367Asn)
c.231G>C (p.Lys77Asn)
c.942G>C (p.Lys314Asn)
c.912G>C (p.Lys304Asn)
c.327G>C (p.Lys109Asn)
c.1038G>C (p.Lys346Asn)
c.264G>C (p.Lys88Asn)
n.1265G>C
c.444G>C (p.Lys148Asn)
n.1259G>C
Xg.53255857C>TCA516674393IQSEC2c.1101G>A (p.Lys367=)
c.231G>A (p.Lys77=)
c.942G>A (p.Lys314=)
c.912G>A (p.Lys304=)
c.327G>A (p.Lys109=)
c.1038G>A (p.Lys346=)
c.264G>A (p.Lys88=)
n.1265G>A
c.444G>A (p.Lys148=)
n.1259G>A
 ClinVar dbSNP gnomAD v4
Xg.53255858T>ACA413171292IQSEC2c.1100A>T (p.Lys367Met)
c.230A>T (p.Lys77Met)
c.941A>T (p.Lys314Met)
c.911A>T (p.Lys304Met)
c.326A>T (p.Lys109Met)
c.1037A>T (p.Lys346Met)
c.263A>T (p.Lys88Met)
n.1264A>T
c.443A>T (p.Lys148Met)
n.1258A>T
Xg.53255858T>CCA413171294IQSEC2c.1100A>G (p.Lys367Arg)
c.230A>G (p.Lys77Arg)
c.941A>G (p.Lys314Arg)
c.911A>G (p.Lys304Arg)
c.326A>G (p.Lys109Arg)
c.1037A>G (p.Lys346Arg)
c.263A>G (p.Lys88Arg)
n.1264A>G
c.443A>G (p.Lys148Arg)
n.1258A>G
Xg.53255858T>GCA413171297IQSEC2c.1100A>C (p.Lys367Thr)
c.230A>C (p.Lys77Thr)
c.941A>C (p.Lys314Thr)
c.911A>C (p.Lys304Thr)
c.326A>C (p.Lys109Thr)
c.1037A>C (p.Lys346Thr)
c.263A>C (p.Lys88Thr)
n.1264A>C
c.443A>C (p.Lys148Thr)
n.1258A>C
Xg.53255859T>ACA413171300IQSEC2c.1099A>T (p.Lys367Ter)
c.229A>T (p.Lys77Ter)
c.940A>T (p.Lys314Ter)
c.910A>T (p.Lys304Ter)
c.325A>T (p.Lys109Ter)
c.1036A>T (p.Lys346Ter)
c.262A>T (p.Lys88Ter)
n.1263A>T
c.442A>T (p.Lys148Ter)
n.1257A>T
Xg.53255859T>CCA413171306IQSEC2c.1099A>G (p.Lys367Glu)
c.229A>G (p.Lys77Glu)
c.940A>G (p.Lys314Glu)
c.910A>G (p.Lys304Glu)
c.325A>G (p.Lys109Glu)
c.1036A>G (p.Lys346Glu)
c.262A>G (p.Lys88Glu)
n.1263A>G
c.442A>G (p.Lys148Glu)
n.1257A>G
Xg.53255859T>GCA413171303IQSEC2c.1099A>C (p.Lys367Gln)
c.229A>C (p.Lys77Gln)
c.940A>C (p.Lys314Gln)
c.910A>C (p.Lys304Gln)
c.325A>C (p.Lys109Gln)
c.1036A>C (p.Lys346Gln)
c.262A>C (p.Lys88Gln)
n.1263A>C
c.442A>C (p.Lys148Gln)
n.1257A>C
 gnomAD v4
Xg.53255859_53255861delinsTTACA2429777182IQSEC2c.1097_1099delinsTAA (p.Ile366=)
c.227_229delinsTAA (p.Ile76=)
c.938_940delinsTAA (p.Ile313=)
c.908_910delinsTAA (p.Ile303=)
c.323_325delinsTAA (p.Ile108=)
c.1034_1036delinsTAA (p.Ile345=)
c.260_262delinsTAA (p.Ile87=)
n.1261_1263delinsTAA
c.440_442delinsTAA (p.Ile147=)
n.1255_1257delinsTAA
Xg.53255860T>ACA516674399IQSEC2c.1098A>T (p.Ile366=)
c.228A>T (p.Ile76=)
c.939A>T (p.Ile313=)
c.909A>T (p.Ile303=)
c.324A>T (p.Ile108=)
c.1035A>T (p.Ile345=)
c.261A>T (p.Ile87=)
n.1262A>T
c.441A>T (p.Ile147=)
n.1256A>T
Xg.53255860T>CCA413171308IQSEC2c.1098A>G (p.Ile366Met)
c.228A>G (p.Ile76Met)
c.939A>G (p.Ile313Met)
c.909A>G (p.Ile303Met)
c.324A>G (p.Ile108Met)
c.1035A>G (p.Ile345Met)
c.261A>G (p.Ile87Met)
n.1262A>G
c.441A>G (p.Ile147Met)
n.1256A>G
Xg.53255860T>GCA516674402IQSEC2c.1098A>C (p.Ile366=)
c.228A>C (p.Ile76=)
c.939A>C (p.Ile313=)
c.909A>C (p.Ile303=)
c.324A>C (p.Ile108=)
c.1035A>C (p.Ile345=)
c.261A>C (p.Ile87=)
n.1262A>C
c.441A>C (p.Ile147=)
n.1256A>C
Xg.53255861_53255862delCA915951102IQSEC2c.1097_1098del (p.Ile366LysfsTer11)
c.227_228del (p.Ile76LysfsTer11)
c.938_939del (p.Ile313LysfsTer11)
c.908_909del (p.Ile303LysfsTer11)
c.323_324del (p.Ile108LysfsTer11)
c.1034_1035del (p.Ile345LysfsTer11)
c.260_261del (p.Ile87LysfsTer11)
n.1261_1262del
c.440_441del (p.Ile147LysfsTer11)
n.1255_1256del
 ClinVar dbSNP
Xg.53255861A>CCA413171310IQSEC2c.1097T>G (p.Ile366Arg)
c.227T>G (p.Ile76Arg)
c.938T>G (p.Ile313Arg)
c.908T>G (p.Ile303Arg)
c.323T>G (p.Ile108Arg)
c.1034T>G (p.Ile345Arg)
c.260T>G (p.Ile87Arg)
n.1261T>G
c.440T>G (p.Ile147Arg)
n.1255T>G
Xg.53255861A>GCA413171315IQSEC2c.1097T>C (p.Ile366Thr)
c.227T>C (p.Ile76Thr)
c.938T>C (p.Ile313Thr)
c.908T>C (p.Ile303Thr)
c.323T>C (p.Ile108Thr)
c.1034T>C (p.Ile345Thr)
c.260T>C (p.Ile87Thr)
n.1261T>C
c.440T>C (p.Ile147Thr)
n.1255T>C
 gnomAD v4
Xg.53255861A>TCA413171318IQSEC2c.1097T>A (p.Ile366Lys)
c.227T>A (p.Ile76Lys)
c.938T>A (p.Ile313Lys)
c.908T>A (p.Ile303Lys)
c.323T>A (p.Ile108Lys)
c.1034T>A (p.Ile345Lys)
c.260T>A (p.Ile87Lys)
n.1261T>A
c.440T>A (p.Ile147Lys)
n.1255T>A
Xg.53255862T>ACA413171329IQSEC2c.1096A>T (p.Ile366Leu)
c.226A>T (p.Ile76Leu)
c.937A>T (p.Ile313Leu)
c.907A>T (p.Ile303Leu)
c.322A>T (p.Ile108Leu)
c.1033A>T (p.Ile345Leu)
c.259A>T (p.Ile87Leu)
n.1260A>T
c.439A>T (p.Ile147Leu)
n.1254A>T
Xg.53255862T>CCA413171331IQSEC2c.1096A>G (p.Ile366Val)
c.226A>G (p.Ile76Val)
c.937A>G (p.Ile313Val)
c.907A>G (p.Ile303Val)
c.322A>G (p.Ile108Val)
c.1033A>G (p.Ile345Val)
c.259A>G (p.Ile87Val)
n.1260A>G
c.439A>G (p.Ile147Val)
n.1254A>G
Xg.53255862T>GCA413171334IQSEC2c.1096A>C (p.Ile366Leu)
c.226A>C (p.Ile76Leu)
c.937A>C (p.Ile313Leu)
c.907A>C (p.Ile303Leu)
c.322A>C (p.Ile108Leu)
c.1033A>C (p.Ile345Leu)
c.259A>C (p.Ile87Leu)
n.1260A>C
c.439A>C (p.Ile147Leu)
n.1254A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53255862T=CA2429777184IQSEC2c.1096A= (p.Ile366=)
c.226A= (p.Ile76=)
c.937A= (p.Ile313=)
c.907A= (p.Ile303=)
c.322A= (p.Ile108=)
c.1033A= (p.Ile345=)
c.259A= (p.Ile87=)
n.1260A=
c.439A= (p.Ile147=)
n.1254A=
Xg.53255862_53255865delinsTCTCCA2429777183IQSEC2c.1093_1096delinsGAGA (p.Glu365=)
c.223_226delinsGAGA (p.Glu75=)
c.934_937delinsGAGA (p.Glu312=)
c.904_907delinsGAGA (p.Glu302=)
c.319_322delinsGAGA (p.Glu107=)
c.1030_1033delinsGAGA (p.Glu344=)
c.256_259delinsGAGA (p.Glu86=)
n.1257_1260delinsGAGA
c.436_439delinsGAGA (p.Glu146=)
n.1251_1254delinsGAGA
Xg.53255863C>ACA413171339IQSEC2c.1095G>T (p.Glu365Asp)
c.225G>T (p.Glu75Asp)
c.936G>T (p.Glu312Asp)
c.906G>T (p.Glu302Asp)
c.321G>T (p.Glu107Asp)
c.1032G>T (p.Glu344Asp)
c.258G>T (p.Glu86Asp)
n.1259G>T
c.438G>T (p.Glu146Asp)
n.1253G>T
Xg.53255863C=CA2429777185IQSEC2c.1095G= (p.Glu365=)
c.225G= (p.Glu75=)
c.936G= (p.Glu312=)
c.906G= (p.Glu302=)
c.321G= (p.Glu107=)
c.1032G= (p.Glu344=)
c.258G= (p.Glu86=)
n.1259G=
c.438G= (p.Glu146=)
n.1253G=
Xg.53255863C>GCA413171343IQSEC2c.1095G>C (p.Glu365Asp)
c.225G>C (p.Glu75Asp)
c.936G>C (p.Glu312Asp)
c.906G>C (p.Glu302Asp)
c.321G>C (p.Glu107Asp)
c.1032G>C (p.Glu344Asp)
c.258G>C (p.Glu86Asp)
n.1259G>C
c.438G>C (p.Glu146Asp)
n.1253G>C
Xg.53255863C>TCA516674404IQSEC2c.1095G>A (p.Glu365=)
c.225G>A (p.Glu75=)
c.936G>A (p.Glu312=)
c.906G>A (p.Glu302=)
c.321G>A (p.Glu107=)
c.1032G>A (p.Glu344=)
c.258G>A (p.Glu86=)
n.1259G>A
c.438G>A (p.Glu146=)
n.1253G>A
 ClinVar dbSNP gnomAD v4
Xg.53255874_53255876delCA10420127IQSEC2c.1093_1095del (p.Glu365del)
c.223_225del (p.Glu75del)
c.934_936del (p.Glu312del)
c.904_906del (p.Glu302del)
c.319_321del (p.Glu107del)
c.1030_1032del (p.Glu344del)
c.256_258del (p.Glu86del)
n.1257_1259del
c.436_438del (p.Glu146del)
n.1251_1253del
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53255864T>ACA413171348IQSEC2c.1094A>T (p.Glu365Val)
c.224A>T (p.Glu75Val)
c.935A>T (p.Glu312Val)
c.905A>T (p.Glu302Val)
c.320A>T (p.Glu107Val)
c.1031A>T (p.Glu344Val)
c.257A>T (p.Glu86Val)
n.1258A>T
c.437A>T (p.Glu146Val)
n.1252A>T
Xg.53255864T>CCA413171350IQSEC2c.1094A>G (p.Glu365Gly)
c.224A>G (p.Glu75Gly)
c.935A>G (p.Glu312Gly)
c.905A>G (p.Glu302Gly)
c.320A>G (p.Glu107Gly)
c.1031A>G (p.Glu344Gly)
c.257A>G (p.Glu86Gly)
n.1258A>G
c.437A>G (p.Glu146Gly)
n.1252A>G
Xg.53255864T>GCA413171346IQSEC2c.1094A>C (p.Glu365Ala)
c.224A>C (p.Glu75Ala)
c.935A>C (p.Glu312Ala)
c.905A>C (p.Glu302Ala)
c.320A>C (p.Glu107Ala)
c.1031A>C (p.Glu344Ala)
c.257A>C (p.Glu86Ala)
n.1258A>C
c.437A>C (p.Glu146Ala)
n.1252A>C
Xg.53255865C>ACA413171353IQSEC2c.1093G>T (p.Glu365Ter)
c.223G>T (p.Glu75Ter)
c.934G>T (p.Glu312Ter)
c.904G>T (p.Glu302Ter)
c.319G>T (p.Glu107Ter)
c.1030G>T (p.Glu344Ter)
c.256G>T (p.Glu86Ter)
n.1257G>T
c.436G>T (p.Glu146Ter)
n.1251G>T
Xg.53255865C>GCA413171357IQSEC2c.1093G>C (p.Glu365Gln)
c.223G>C (p.Glu75Gln)
c.934G>C (p.Glu312Gln)
c.904G>C (p.Glu302Gln)
c.319G>C (p.Glu107Gln)
c.1030G>C (p.Glu344Gln)
c.256G>C (p.Glu86Gln)
n.1257G>C
c.436G>C (p.Glu146Gln)
n.1251G>C
Xg.53255865C>TCA413171360IQSEC2c.1093G>A (p.Glu365Lys)
c.223G>A (p.Glu75Lys)
c.934G>A (p.Glu312Lys)
c.904G>A (p.Glu302Lys)
c.319G>A (p.Glu107Lys)
c.1030G>A (p.Glu344Lys)
c.256G>A (p.Glu86Lys)
n.1257G>A
c.436G>A (p.Glu146Lys)
n.1251G>A
 gnomAD v4
Xg.53255866C>ACA413171361IQSEC2c.1092G>T (p.Glu364Asp)
c.222G>T (p.Glu74Asp)
c.933G>T (p.Glu311Asp)
c.903G>T (p.Glu301Asp)
c.318G>T (p.Glu106Asp)
c.1029G>T (p.Glu343Asp)
c.255G>T (p.Glu85Asp)
n.1256G>T
c.435G>T (p.Glu145Asp)
n.1250G>T
Xg.53255866C>GCA413171362IQSEC2c.1092G>C (p.Glu364Asp)
c.222G>C (p.Glu74Asp)
c.933G>C (p.Glu311Asp)
c.903G>C (p.Glu301Asp)
c.318G>C (p.Glu106Asp)
c.1029G>C (p.Glu343Asp)
c.255G>C (p.Glu85Asp)
n.1256G>C
c.435G>C (p.Glu145Asp)
n.1250G>C
Xg.53255866C>TCA516674408IQSEC2c.1092G>A (p.Glu364=)
c.222G>A (p.Glu74=)
c.933G>A (p.Glu311=)
c.903G>A (p.Glu301=)
c.318G>A (p.Glu106=)
c.1029G>A (p.Glu343=)
c.255G>A (p.Glu85=)
n.1256G>A
c.435G>A (p.Glu145=)
n.1250G>A
Xg.53255867T>ACA413171366IQSEC2c.1091A>T (p.Glu364Val)
c.221A>T (p.Glu74Val)
c.932A>T (p.Glu311Val)
c.902A>T (p.Glu301Val)
c.317A>T (p.Glu106Val)
c.1028A>T (p.Glu343Val)
c.254A>T (p.Glu85Val)
n.1255A>T
c.434A>T (p.Glu145Val)
n.1249A>T
Xg.53255867T>CCA413171363IQSEC2c.1091A>G (p.Glu364Gly)
c.221A>G (p.Glu74Gly)
c.932A>G (p.Glu311Gly)
c.902A>G (p.Glu301Gly)
c.317A>G (p.Glu106Gly)
c.1028A>G (p.Glu343Gly)
c.254A>G (p.Glu85Gly)
n.1255A>G
c.434A>G (p.Glu145Gly)
n.1249A>G
Xg.53255867T>GCA413171364IQSEC2c.1091A>C (p.Glu364Ala)
c.221A>C (p.Glu74Ala)
c.932A>C (p.Glu311Ala)
c.902A>C (p.Glu301Ala)
c.317A>C (p.Glu106Ala)
c.1028A>C (p.Glu343Ala)
c.254A>C (p.Glu85Ala)
n.1255A>C
c.434A>C (p.Glu145Ala)
n.1249A>C
Xg.53255868C>ACA413171370IQSEC2c.1090G>T (p.Glu364Ter)
c.220G>T (p.Glu74Ter)
c.931G>T (p.Glu311Ter)
c.901G>T (p.Glu301Ter)
c.316G>T (p.Glu106Ter)
c.1027G>T (p.Glu343Ter)
c.253G>T (p.Glu85Ter)
n.1254G>T
c.433G>T (p.Glu145Ter)
n.1248G>T
Xg.53255868C>GCA413171375IQSEC2c.1090G>C (p.Glu364Gln)
c.220G>C (p.Glu74Gln)
c.931G>C (p.Glu311Gln)
c.901G>C (p.Glu301Gln)
c.316G>C (p.Glu106Gln)
c.1027G>C (p.Glu343Gln)
c.253G>C (p.Glu85Gln)
n.1254G>C
c.433G>C (p.Glu145Gln)
n.1248G>C
Xg.53255868C>TCA413171377IQSEC2c.1090G>A (p.Glu364Lys)
c.220G>A (p.Glu74Lys)
c.931G>A (p.Glu311Lys)
c.901G>A (p.Glu301Lys)
c.316G>A (p.Glu106Lys)
c.1027G>A (p.Glu343Lys)
c.253G>A (p.Glu85Lys)
n.1254G>A
c.433G>A (p.Glu145Lys)
n.1248G>A
Xg.53255869C>ACA413171382IQSEC2c.1089G>T (p.Glu363Asp)
c.219G>T (p.Glu73Asp)
c.930G>T (p.Glu310Asp)
c.900G>T (p.Glu300Asp)
c.315G>T (p.Glu105Asp)
c.1026G>T (p.Glu342Asp)
c.252G>T (p.Glu84Asp)
n.1253G>T
c.432G>T (p.Glu144Asp)
n.1247G>T
Xg.53255869C>GCA413171384IQSEC2c.1089G>C (p.Glu363Asp)
c.219G>C (p.Glu73Asp)
c.930G>C (p.Glu310Asp)
c.900G>C (p.Glu300Asp)
c.315G>C (p.Glu105Asp)
c.1026G>C (p.Glu342Asp)
c.252G>C (p.Glu84Asp)
n.1253G>C
c.432G>C (p.Glu144Asp)
n.1247G>C
Xg.53255869C>TCA516674416IQSEC2c.1089G>A (p.Glu363=)
c.219G>A (p.Glu73=)
c.930G>A (p.Glu310=)
c.900G>A (p.Glu300=)
c.315G>A (p.Glu105=)
c.1026G>A (p.Glu342=)
c.252G>A (p.Glu84=)
n.1253G>A
c.432G>A (p.Glu144=)
n.1247G>A
Xg.53255870T>ACA413171389IQSEC2c.1088A>T (p.Glu363Val)
c.218A>T (p.Glu73Val)
c.929A>T (p.Glu310Val)
c.899A>T (p.Glu300Val)
c.314A>T (p.Glu105Val)
c.1025A>T (p.Glu342Val)
c.251A>T (p.Glu84Val)
n.1252A>T
c.431A>T (p.Glu144Val)
n.1246A>T
Xg.53255870T>CCA413171395IQSEC2c.1088A>G (p.Glu363Gly)
c.218A>G (p.Glu73Gly)
c.929A>G (p.Glu310Gly)
c.899A>G (p.Glu300Gly)
c.314A>G (p.Glu105Gly)
c.1025A>G (p.Glu342Gly)
c.251A>G (p.Glu84Gly)
n.1252A>G
c.431A>G (p.Glu144Gly)
n.1246A>G
Xg.53255870T>GCA413171392IQSEC2c.1088A>C (p.Glu363Ala)
c.218A>C (p.Glu73Ala)
c.929A>C (p.Glu310Ala)
c.899A>C (p.Glu300Ala)
c.314A>C (p.Glu105Ala)
c.1025A>C (p.Glu342Ala)
c.251A>C (p.Glu84Ala)
n.1252A>C
c.431A>C (p.Glu144Ala)
n.1246A>C
Xg.53255871C>ACA413171397IQSEC2c.1087G>T (p.Glu363Ter)
c.217G>T (p.Glu73Ter)
c.928G>T (p.Glu310Ter)
c.898G>T (p.Glu300Ter)
c.313G>T (p.Glu105Ter)
c.1024G>T (p.Glu342Ter)
c.250G>T (p.Glu84Ter)
n.1251G>T
c.430G>T (p.Glu144Ter)
n.1245G>T
Xg.53255871C>GCA413171399IQSEC2c.1087G>C (p.Glu363Gln)
c.217G>C (p.Glu73Gln)
c.928G>C (p.Glu310Gln)
c.898G>C (p.Glu300Gln)
c.313G>C (p.Glu105Gln)
c.1024G>C (p.Glu342Gln)
c.250G>C (p.Glu84Gln)
n.1251G>C
c.430G>C (p.Glu144Gln)
n.1245G>C
Xg.53255871C>TCA413171402IQSEC2c.1087G>A (p.Glu363Lys)
c.217G>A (p.Glu73Lys)
c.928G>A (p.Glu310Lys)
c.898G>A (p.Glu300Lys)
c.313G>A (p.Glu105Lys)
c.1024G>A (p.Glu342Lys)
c.250G>A (p.Glu84Lys)
n.1251G>A
c.430G>A (p.Glu144Lys)
n.1245G>A
Xg.53255872C>ACA413171405IQSEC2c.1086G>T (p.Glu362Asp)
c.216G>T (p.Glu72Asp)
c.927G>T (p.Glu309Asp)
c.897G>T (p.Glu299Asp)
c.312G>T (p.Glu104Asp)
c.1023G>T (p.Glu341Asp)
c.249G>T (p.Glu83Asp)
n.1250G>T
c.429G>T (p.Glu143Asp)
n.1244G>T
Xg.53255872C=CA2429777186IQSEC2c.1086G= (p.Glu362=)
c.216G= (p.Glu72=)
c.927G= (p.Glu309=)
c.897G= (p.Glu299=)
c.312G= (p.Glu104=)
c.1023G= (p.Glu341=)
c.249G= (p.Glu83=)
n.1250G=
c.429G= (p.Glu143=)
n.1244G=
Xg.53255872C>GCA413171407IQSEC2c.1086G>C (p.Glu362Asp)
c.216G>C (p.Glu72Asp)
c.927G>C (p.Glu309Asp)
c.897G>C (p.Glu299Asp)
c.312G>C (p.Glu104Asp)
c.1023G>C (p.Glu341Asp)
c.249G>C (p.Glu83Asp)
n.1250G>C
c.429G>C (p.Glu143Asp)
n.1244G>C
Xg.53255872C>TCA516674418IQSEC2c.1086G>A (p.Glu362=)
c.216G>A (p.Glu72=)
c.927G>A (p.Glu309=)
c.897G>A (p.Glu299=)
c.312G>A (p.Glu104=)
c.1023G>A (p.Glu341=)
c.249G>A (p.Glu83=)
n.1250G>A
c.429G>A (p.Glu143=)
n.1244G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53255873T>ACA413171410IQSEC2c.1085A>T (p.Glu362Val)
c.215A>T (p.Glu72Val)
c.926A>T (p.Glu309Val)
c.896A>T (p.Glu299Val)
c.311A>T (p.Glu104Val)
c.1022A>T (p.Glu341Val)
c.248A>T (p.Glu83Val)
n.1249A>T
c.428A>T (p.Glu143Val)
n.1243A>T
Xg.53255873T>CCA413171413IQSEC2c.1085A>G (p.Glu362Gly)
c.215A>G (p.Glu72Gly)
c.926A>G (p.Glu309Gly)
c.896A>G (p.Glu299Gly)
c.311A>G (p.Glu104Gly)
c.1022A>G (p.Glu341Gly)
c.248A>G (p.Glu83Gly)
n.1249A>G
c.428A>G (p.Glu143Gly)
n.1243A>G
 gnomAD v4
Xg.53255873T>GCA413171416IQSEC2c.1085A>C (p.Glu362Ala)
c.215A>C (p.Glu72Ala)
c.926A>C (p.Glu309Ala)
c.896A>C (p.Glu299Ala)
c.311A>C (p.Glu104Ala)
c.1022A>C (p.Glu341Ala)
c.248A>C (p.Glu83Ala)
n.1249A>C
c.428A>C (p.Glu143Ala)
n.1243A>C
Xg.53255874C>ACA413171417IQSEC2c.1084G>T (p.Glu362Ter)
c.214G>T (p.Glu72Ter)
c.925G>T (p.Glu309Ter)
c.895G>T (p.Glu299Ter)
c.310G>T (p.Glu104Ter)
c.1021G>T (p.Glu341Ter)
c.247G>T (p.Glu83Ter)
n.1248G>T
c.427G>T (p.Glu143Ter)
n.1242G>T
Xg.53255874C>GCA413171420IQSEC2c.1084G>C (p.Glu362Gln)
c.214G>C (p.Glu72Gln)
c.925G>C (p.Glu309Gln)
c.895G>C (p.Glu299Gln)
c.310G>C (p.Glu104Gln)
c.1021G>C (p.Glu341Gln)
c.247G>C (p.Glu83Gln)
n.1248G>C
c.427G>C (p.Glu143Gln)
n.1242G>C
Xg.53255874C>TCA413171422IQSEC2c.1084G>A (p.Glu362Lys)
c.214G>A (p.Glu72Lys)
c.925G>A (p.Glu309Lys)
c.895G>A (p.Glu299Lys)
c.310G>A (p.Glu104Lys)
c.1021G>A (p.Glu341Lys)
c.247G>A (p.Glu83Lys)
n.1248G>A
c.427G>A (p.Glu143Lys)
n.1242G>A
Xg.53255875C>ACA413171425IQSEC2c.1083G>T (p.Gln361His)
c.213G>T (p.Gln71His)
c.924G>T (p.Gln308His)
c.894G>T (p.Gln298His)
c.309G>T (p.Gln103His)
c.1020G>T (p.Gln340His)
c.246G>T (p.Gln82His)
n.1247G>T
c.426G>T (p.Gln142His)
n.1241G>T
Xg.53255875C>GCA413171424IQSEC2c.1083G>C (p.Gln361His)
c.213G>C (p.Gln71His)
c.924G>C (p.Gln308His)
c.894G>C (p.Gln298His)
c.309G>C (p.Gln103His)
c.1020G>C (p.Gln340His)
c.246G>C (p.Gln82His)
n.1247G>C
c.426G>C (p.Gln142His)
n.1241G>C
Xg.53255875C>TCA516674424IQSEC2c.1083G>A (p.Gln361=)
c.213G>A (p.Gln71=)
c.924G>A (p.Gln308=)
c.894G>A (p.Gln298=)
c.309G>A (p.Gln103=)
c.1020G>A (p.Gln340=)
c.246G>A (p.Gln82=)
n.1247G>A
c.426G>A (p.Gln142=)
n.1241G>A
Xg.53255876T>ACA413171428IQSEC2c.1082A>T (p.Gln361Leu)
c.212A>T (p.Gln71Leu)
c.923A>T (p.Gln308Leu)
c.893A>T (p.Gln298Leu)
c.308A>T (p.Gln103Leu)
c.1019A>T (p.Gln340Leu)
c.245A>T (p.Gln82Leu)
n.1246A>T
c.425A>T (p.Gln142Leu)
n.1240A>T
Xg.53255876T>CCA413171433IQSEC2c.1082A>G (p.Gln361Arg)
c.212A>G (p.Gln71Arg)
c.923A>G (p.Gln308Arg)
c.893A>G (p.Gln298Arg)
c.308A>G (p.Gln103Arg)
c.1019A>G (p.Gln340Arg)
c.245A>G (p.Gln82Arg)
n.1246A>G
c.425A>G (p.Gln142Arg)
n.1240A>G
Xg.53255876T>GCA413171431IQSEC2c.1082A>C (p.Gln361Pro)
c.212A>C (p.Gln71Pro)
c.923A>C (p.Gln308Pro)
c.893A>C (p.Gln298Pro)
c.308A>C (p.Gln103Pro)
c.1019A>C (p.Gln340Pro)
c.245A>C (p.Gln82Pro)
n.1246A>C
c.425A>C (p.Gln142Pro)
n.1240A>C
Xg.53255877G>ACA413171437IQSEC2c.1081C>T (p.Gln361Ter)
c.211C>T (p.Gln71Ter)
c.922C>T (p.Gln308Ter)
c.892C>T (p.Gln298Ter)
c.307C>T (p.Gln103Ter)
c.1018C>T (p.Gln340Ter)
c.244C>T (p.Gln82Ter)
n.1245C>T
c.424C>T (p.Gln142Ter)
n.1239C>T
Xg.53255877G>CCA413171441IQSEC2c.1081C>G (p.Gln361Glu)
c.211C>G (p.Gln71Glu)
c.922C>G (p.Gln308Glu)
c.892C>G (p.Gln298Glu)
c.307C>G (p.Gln103Glu)
c.1018C>G (p.Gln340Glu)
c.244C>G (p.Gln82Glu)
n.1245C>G
c.424C>G (p.Gln142Glu)
n.1239C>G
Xg.53255877G>TCA413171443IQSEC2c.1081C>A (p.Gln361Lys)
c.211C>A (p.Gln71Lys)
c.922C>A (p.Gln308Lys)
c.892C>A (p.Gln298Lys)
c.307C>A (p.Gln103Lys)
c.1018C>A (p.Gln340Lys)
c.244C>A (p.Gln82Lys)
n.1245C>A
c.424C>A (p.Gln142Lys)
n.1239C>A
Xg.53255878C>ACA413171446IQSEC2c.1080G>T (p.Lys360Asn)
c.210G>T (p.Lys70Asn)
c.921G>T (p.Lys307Asn)
c.891G>T (p.Lys297Asn)
c.306G>T (p.Lys102Asn)
c.1017G>T (p.Lys339Asn)
c.243G>T (p.Lys81Asn)
n.1244G>T
c.423G>T (p.Lys141Asn)
n.1238G>T
Xg.53255878C>GCA413171449IQSEC2c.1080G>C (p.Lys360Asn)
c.210G>C (p.Lys70Asn)
c.921G>C (p.Lys307Asn)
c.891G>C (p.Lys297Asn)
c.306G>C (p.Lys102Asn)
c.1017G>C (p.Lys339Asn)
c.243G>C (p.Lys81Asn)
n.1244G>C
c.423G>C (p.Lys141Asn)
n.1238G>C
Xg.53255878C>TCA516674432IQSEC2c.1080G>A (p.Lys360=)
c.210G>A (p.Lys70=)
c.921G>A (p.Lys307=)
c.891G>A (p.Lys297=)
c.306G>A (p.Lys102=)
c.1017G>A (p.Lys339=)
c.243G>A (p.Lys81=)
n.1244G>A
c.423G>A (p.Lys141=)
n.1238G>A
Xg.53255879T>ACA413171451IQSEC2c.1079A>T (p.Lys360Met)
c.209A>T (p.Lys70Met)
c.920A>T (p.Lys307Met)
c.890A>T (p.Lys297Met)
c.305A>T (p.Lys102Met)
c.1016A>T (p.Lys339Met)
c.242A>T (p.Lys81Met)
n.1243A>T
c.422A>T (p.Lys141Met)
n.1237A>T
Xg.53255879T>CCA413171454IQSEC2c.1079A>G (p.Lys360Arg)
c.209A>G (p.Lys70Arg)
c.920A>G (p.Lys307Arg)
c.890A>G (p.Lys297Arg)
c.305A>G (p.Lys102Arg)
c.1016A>G (p.Lys339Arg)
c.242A>G (p.Lys81Arg)
n.1243A>G
c.422A>G (p.Lys141Arg)
n.1237A>G
Xg.53255879T>GCA413171457IQSEC2c.1079A>C (p.Lys360Thr)
c.209A>C (p.Lys70Thr)
c.920A>C (p.Lys307Thr)
c.890A>C (p.Lys297Thr)
c.305A>C (p.Lys102Thr)
c.1016A>C (p.Lys339Thr)
c.242A>C (p.Lys81Thr)
n.1243A>C
c.422A>C (p.Lys141Thr)
n.1237A>C
Xg.53255880T>ACA413171460IQSEC2c.1078A>T (p.Lys360Ter)
c.208A>T (p.Lys70Ter)
c.919A>T (p.Lys307Ter)
c.889A>T (p.Lys297Ter)
c.304A>T (p.Lys102Ter)
c.1015A>T (p.Lys339Ter)
c.241A>T (p.Lys81Ter)
n.1242A>T
c.421A>T (p.Lys141Ter)
n.1236A>T
Xg.53255880T>CCA413171461IQSEC2c.1078A>G (p.Lys360Glu)
c.208A>G (p.Lys70Glu)
c.919A>G (p.Lys307Glu)
c.889A>G (p.Lys297Glu)
c.304A>G (p.Lys102Glu)
c.1015A>G (p.Lys339Glu)
c.241A>G (p.Lys81Glu)
n.1242A>G
c.421A>G (p.Lys141Glu)
n.1236A>G
Xg.53255880T>GCA413171466IQSEC2c.1078A>C (p.Lys360Gln)
c.208A>C (p.Lys70Gln)
c.919A>C (p.Lys307Gln)
c.889A>C (p.Lys297Gln)
c.304A>C (p.Lys102Gln)
c.1015A>C (p.Lys339Gln)
c.241A>C (p.Lys81Gln)
n.1242A>C
c.421A>C (p.Lys141Gln)
n.1236A>C
Xg.53255881C>ACA413171469IQSEC2c.1077G>T (p.Arg359Ser)
c.207G>T (p.Arg69Ser)
c.918G>T (p.Arg306Ser)
c.888G>T (p.Arg296Ser)
c.303G>T (p.Arg101Ser)
c.1014G>T (p.Arg338Ser)
c.240G>T (p.Arg80Ser)
n.1241G>T
c.420G>T (p.Arg140Ser)
n.1235G>T
Xg.53255881C>GCA413171473IQSEC2c.1077G>C (p.Arg359Ser)
c.207G>C (p.Arg69Ser)
c.918G>C (p.Arg306Ser)
c.888G>C (p.Arg296Ser)
c.303G>C (p.Arg101Ser)
c.1014G>C (p.Arg338Ser)
c.240G>C (p.Arg80Ser)
n.1241G>C
c.420G>C (p.Arg140Ser)
n.1235G>C
Xg.53255881C>TCA516674448IQSEC2c.1077G>A (p.Arg359=)
c.207G>A (p.Arg69=)
c.918G>A (p.Arg306=)
c.888G>A (p.Arg296=)
c.303G>A (p.Arg101=)
c.1014G>A (p.Arg338=)
c.240G>A (p.Arg80=)
n.1241G>A
c.420G>A (p.Arg140=)
n.1235G>A
Xg.53255882C>ACA413171477IQSEC2c.1076G>T (p.Arg359Met)
c.206G>T (p.Arg69Met)
c.917G>T (p.Arg306Met)
c.887G>T (p.Arg296Met)
c.302G>T (p.Arg101Met)
c.1013G>T (p.Arg338Met)
c.239G>T (p.Arg80Met)
n.1240G>T
c.419G>T (p.Arg140Met)
n.1234G>T
Xg.53255882C>GCA413171480IQSEC2c.1076G>C (p.Arg359Thr)
c.206G>C (p.Arg69Thr)
c.917G>C (p.Arg306Thr)
c.887G>C (p.Arg296Thr)
c.302G>C (p.Arg101Thr)
c.1013G>C (p.Arg338Thr)
c.239G>C (p.Arg80Thr)
n.1240G>C
c.419G>C (p.Arg140Thr)
n.1234G>C
Xg.53255882C>TCA413171479IQSEC2c.1076G>A (p.Arg359Lys)
c.206G>A (p.Arg69Lys)
c.917G>A (p.Arg306Lys)
c.887G>A (p.Arg296Lys)
c.302G>A (p.Arg101Lys)
c.1013G>A (p.Arg338Lys)
c.239G>A (p.Arg80Lys)
n.1240G>A
c.419G>A (p.Arg140Lys)
n.1234G>A
Xg.53255883T>ACA413171482IQSEC2c.1075A>T (p.Arg359Trp)
c.205A>T (p.Arg69Trp)
c.916A>T (p.Arg306Trp)
c.886A>T (p.Arg296Trp)
c.301A>T (p.Arg101Trp)
c.1012A>T (p.Arg338Trp)
c.238A>T (p.Arg80Trp)
n.1239A>T
c.418A>T (p.Arg140Trp)
n.1233A>T
Xg.53255883T>CCA413171483IQSEC2c.1075A>G (p.Arg359Gly)
c.205A>G (p.Arg69Gly)
c.916A>G (p.Arg306Gly)
c.886A>G (p.Arg296Gly)
c.301A>G (p.Arg101Gly)
c.1012A>G (p.Arg338Gly)
c.238A>G (p.Arg80Gly)
n.1239A>G
c.418A>G (p.Arg140Gly)
n.1233A>G
Xg.53255883T>GCA516674454IQSEC2c.1075A>C (p.Arg359=)
c.205A>C (p.Arg69=)
c.916A>C (p.Arg306=)
c.886A>C (p.Arg296=)
c.301A>C (p.Arg101=)
c.1012A>C (p.Arg338=)
c.238A>C (p.Arg80=)
n.1239A>C
c.418A>C (p.Arg140=)
n.1233A>C
Xg.53255884C>ACA516674458IQSEC2c.1074G>T (p.Leu358=)
c.204G>T (p.Leu68=)
c.915G>T (p.Leu305=)
c.885G>T (p.Leu295=)
c.300G>T (p.Leu100=)
c.1011G>T (p.Leu337=)
c.237G>T (p.Leu79=)
n.1238G>T
c.417G>T (p.Leu139=)
n.1232G>T
Xg.53255884C>GCA516674459IQSEC2c.1074G>C (p.Leu358=)
c.204G>C (p.Leu68=)
c.915G>C (p.Leu305=)
c.885G>C (p.Leu295=)
c.300G>C (p.Leu100=)
c.1011G>C (p.Leu337=)
c.237G>C (p.Leu79=)
n.1238G>C
c.417G>C (p.Leu139=)
n.1232G>C
Xg.53255884C>TCA516674460IQSEC2c.1074G>A (p.Leu358=)
c.204G>A (p.Leu68=)
c.915G>A (p.Leu305=)
c.885G>A (p.Leu295=)
c.300G>A (p.Leu100=)
c.1011G>A (p.Leu337=)
c.237G>A (p.Leu79=)
n.1238G>A
c.417G>A (p.Leu139=)
n.1232G>A
Xg.53255885A>CCA413171484IQSEC2c.1073T>G (p.Leu358Arg)
c.203T>G (p.Leu68Arg)
c.914T>G (p.Leu305Arg)
c.884T>G (p.Leu295Arg)
c.299T>G (p.Leu100Arg)
c.1010T>G (p.Leu337Arg)
c.236T>G (p.Leu79Arg)
n.1237T>G
c.416T>G (p.Leu139Arg)
n.1231T>G
Xg.53255885A>GCA413171485IQSEC2c.1073T>C (p.Leu358Pro)
c.203T>C (p.Leu68Pro)
c.914T>C (p.Leu305Pro)
c.884T>C (p.Leu295Pro)
c.299T>C (p.Leu100Pro)
c.1010T>C (p.Leu337Pro)
c.236T>C (p.Leu79Pro)
n.1237T>C
c.416T>C (p.Leu139Pro)
n.1231T>C
 gnomAD v4
Xg.53255885A>TCA413171486IQSEC2c.1073T>A (p.Leu358Gln)
c.203T>A (p.Leu68Gln)
c.914T>A (p.Leu305Gln)
c.884T>A (p.Leu295Gln)
c.299T>A (p.Leu100Gln)
c.1010T>A (p.Leu337Gln)
c.236T>A (p.Leu79Gln)
n.1237T>A
c.416T>A (p.Leu139Gln)
n.1231T>A
Xg.53255886G>ACA516674469IQSEC2c.1072C>T (p.Leu358=)
c.202C>T (p.Leu68=)
c.913C>T (p.Leu305=)
c.883C>T (p.Leu295=)
c.298C>T (p.Leu100=)
c.1009C>T (p.Leu337=)
c.235C>T (p.Leu79=)
n.1236C>T
c.415C>T (p.Leu139=)
n.1230C>T
 gnomAD v4
Xg.53255886G>CCA413171488IQSEC2c.1072C>G (p.Leu358Val)
c.202C>G (p.Leu68Val)
c.913C>G (p.Leu305Val)
c.883C>G (p.Leu295Val)
c.298C>G (p.Leu100Val)
c.1009C>G (p.Leu337Val)
c.235C>G (p.Leu79Val)
n.1236C>G
c.415C>G (p.Leu139Val)
n.1230C>G
Xg.53255886G>TCA413171491IQSEC2c.1072C>A (p.Leu358Met)
c.202C>A (p.Leu68Met)
c.913C>A (p.Leu305Met)
c.883C>A (p.Leu295Met)
c.298C>A (p.Leu100Met)
c.1009C>A (p.Leu337Met)
c.235C>A (p.Leu79Met)
n.1236C>A
c.415C>A (p.Leu139Met)
n.1230C>A
Xg.53255887G>ACA516674431IQSEC2c.1071C>T (p.Ala357=)
c.201C>T (p.Ala67=)
c.912C>T (p.Ala304=)
c.882C>T (p.Ala294=)
c.297C>T (p.Ala99=)
c.1008C>T (p.Ala336=)
c.234C>T (p.Ala78=)
n.1235C>T
c.414C>T (p.Ala138=)
n.1229C>T
 ClinVar dbSNP gnomAD v4
Xg.53255887G>CCA516674434IQSEC2c.1071C>G (p.Ala357=)
c.201C>G (p.Ala67=)
c.912C>G (p.Ala304=)
c.882C>G (p.Ala294=)
c.297C>G (p.Ala99=)
c.1008C>G (p.Ala336=)
c.234C>G (p.Ala78=)
n.1235C>G
c.414C>G (p.Ala138=)
n.1229C>G
Xg.53255887G>TCA516674435IQSEC2c.1071C>A (p.Ala357=)
c.201C>A (p.Ala67=)
c.912C>A (p.Ala304=)
c.882C>A (p.Ala294=)
c.297C>A (p.Ala99=)
c.1008C>A (p.Ala336=)
c.234C>A (p.Ala78=)
n.1235C>A
c.414C>A (p.Ala138=)
n.1229C>A
Xg.53255888G>ACA413171493IQSEC2c.1070C>T (p.Ala357Val)
c.200C>T (p.Ala67Val)
c.911C>T (p.Ala304Val)
c.881C>T (p.Ala294Val)
c.296C>T (p.Ala99Val)
c.1007C>T (p.Ala336Val)
c.233C>T (p.Ala78Val)
n.1234C>T
c.413C>T (p.Ala138Val)
n.1228C>T
 COSMIC COSMIC COSMIC
Xg.53255888G>CCA413171494IQSEC2c.1070C>G (p.Ala357Gly)
c.200C>G (p.Ala67Gly)
c.911C>G (p.Ala304Gly)
c.881C>G (p.Ala294Gly)
c.296C>G (p.Ala99Gly)
c.1007C>G (p.Ala336Gly)
c.233C>G (p.Ala78Gly)
n.1234C>G
c.413C>G (p.Ala138Gly)
n.1228C>G
Xg.53255888G>TCA413171496IQSEC2c.1070C>A (p.Ala357Asp)
c.200C>A (p.Ala67Asp)
c.911C>A (p.Ala304Asp)
c.881C>A (p.Ala294Asp)
c.296C>A (p.Ala99Asp)
c.1007C>A (p.Ala336Asp)
c.233C>A (p.Ala78Asp)
n.1234C>A
c.413C>A (p.Ala138Asp)
n.1228C>A
Xg.53255889C>ACA10420128IQSEC2c.1069G>T (p.Ala357Ser)
c.199G>T (p.Ala67Ser)
c.910G>T (p.Ala304Ser)
c.880G>T (p.Ala294Ser)
c.295G>T (p.Ala99Ser)
c.1006G>T (p.Ala336Ser)
c.232G>T (p.Ala78Ser)
n.1233G>T
c.412G>T (p.Ala138Ser)
n.1227G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53255889C=CA2429777187IQSEC2c.1069G= (p.Ala357=)
c.199G= (p.Ala67=)
c.910G= (p.Ala304=)
c.880G= (p.Ala294=)
c.295G= (p.Ala99=)
c.1006G= (p.Ala336=)
c.232G= (p.Ala78=)
n.1233G=
c.412G= (p.Ala138=)
n.1227G=
Xg.53255889C>GCA413171504IQSEC2c.1069G>C (p.Ala357Pro)
c.199G>C (p.Ala67Pro)
c.910G>C (p.Ala304Pro)
c.880G>C (p.Ala294Pro)
c.295G>C (p.Ala99Pro)
c.1006G>C (p.Ala336Pro)
c.232G>C (p.Ala78Pro)
n.1233G>C
c.412G>C (p.Ala138Pro)
n.1227G>C
 dbSNP gnomAD v2 gnomAD v4
Xg.53255889C>TCA413171499IQSEC2c.1069G>A (p.Ala357Thr)
c.199G>A (p.Ala67Thr)
c.910G>A (p.Ala304Thr)
c.880G>A (p.Ala294Thr)
c.295G>A (p.Ala99Thr)
c.1006G>A (p.Ala336Thr)
c.232G>A (p.Ala78Thr)
n.1233G>A
c.412G>A (p.Ala138Thr)
n.1227G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53255890G>ACA10420129IQSEC2c.1068C>T (p.Val356=)
c.198C>T (p.Val66=)
c.909C>T (p.Val303=)
c.879C>T (p.Val293=)
c.294C>T (p.Val98=)
c.1005C>T (p.Val335=)
c.231C>T (p.Val77=)
n.1232C>T
c.411C>T (p.Val137=)
n.1226C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53255890G>CCA516674441IQSEC2c.1068C>G (p.Val356=)
c.198C>G (p.Val66=)
c.909C>G (p.Val303=)
c.879C>G (p.Val293=)
c.294C>G (p.Val98=)
c.1005C>G (p.Val335=)
c.231C>G (p.Val77=)
n.1232C>G
c.411C>G (p.Val137=)
n.1226C>G
Xg.53255890G=CA2429777188IQSEC2c.1068C= (p.Val356=)
c.198C= (p.Val66=)
c.909C= (p.Val303=)
c.879C= (p.Val293=)
c.294C= (p.Val98=)
c.1005C= (p.Val335=)
c.231C= (p.Val77=)
n.1232C=
c.411C= (p.Val137=)
n.1226C=
Xg.53255890G>TCA516674443IQSEC2c.1068C>A (p.Val356=)
c.198C>A (p.Val66=)
c.909C>A (p.Val303=)
c.879C>A (p.Val293=)
c.294C>A (p.Val98=)
c.1005C>A (p.Val335=)
c.231C>A (p.Val77=)
n.1232C>A
c.411C>A (p.Val137=)
n.1226C>A
 gnomAD v4
Xg.53255891A>CCA413171508IQSEC2c.1067T>G (p.Val356Gly)
c.197T>G (p.Val66Gly)
c.908T>G (p.Val303Gly)
c.878T>G (p.Val293Gly)
c.293T>G (p.Val98Gly)
c.1004T>G (p.Val335Gly)
c.230T>G (p.Val77Gly)
n.1231T>G
c.410T>G (p.Val137Gly)
n.1225T>G
 ClinVar
Xg.53255891A>GCA413171514IQSEC2c.1067T>C (p.Val356Ala)
c.197T>C (p.Val66Ala)
c.908T>C (p.Val303Ala)
c.878T>C (p.Val293Ala)
c.293T>C (p.Val98Ala)
c.1004T>C (p.Val335Ala)
c.230T>C (p.Val77Ala)
n.1231T>C
c.410T>C (p.Val137Ala)
n.1225T>C
Xg.53255891A>TCA413171517IQSEC2c.1067T>A (p.Val356Asp)
c.197T>A (p.Val66Asp)
c.908T>A (p.Val303Asp)
c.878T>A (p.Val293Asp)
c.293T>A (p.Val98Asp)
c.1004T>A (p.Val335Asp)
c.230T>A (p.Val77Asp)
n.1231T>A
c.410T>A (p.Val137Asp)
n.1225T>A
 gnomAD v4
Xg.53255892C>ACA413171523IQSEC2c.1066G>T (p.Val356Phe)
c.196G>T (p.Val66Phe)
c.907G>T (p.Val303Phe)
c.877G>T (p.Val293Phe)
c.292G>T (p.Val98Phe)
c.1003G>T (p.Val335Phe)
c.229G>T (p.Val77Phe)
n.1230G>T
c.409G>T (p.Val137Phe)
n.1224G>T
Xg.53255892C>GCA413171526IQSEC2c.1066G>C (p.Val356Leu)
c.196G>C (p.Val66Leu)
c.907G>C (p.Val303Leu)
c.877G>C (p.Val293Leu)
c.292G>C (p.Val98Leu)
c.1003G>C (p.Val335Leu)
c.229G>C (p.Val77Leu)
n.1230G>C
c.409G>C (p.Val137Leu)
n.1224G>C
Xg.53255892C>TCA413171528IQSEC2c.1066G>A (p.Val356Ile)
c.196G>A (p.Val66Ile)
c.907G>A (p.Val303Ile)
c.877G>A (p.Val293Ile)
c.292G>A (p.Val98Ile)
c.1003G>A (p.Val335Ile)
c.229G>A (p.Val77Ile)
n.1230G>A
c.409G>A (p.Val137Ile)
n.1224G>A
 gnomAD v4
Xg.53255893A>CCA413171529IQSEC2c.1065T>G (p.Ser355Arg)
c.195T>G (p.Ser65Arg)
c.906T>G (p.Ser302Arg)
c.876T>G (p.Ser292Arg)
c.291T>G (p.Ser97Arg)
c.1002T>G (p.Ser334Arg)
c.228T>G (p.Ser76Arg)
n.1229T>G
c.408T>G (p.Ser136Arg)
n.1223T>G
Xg.53255893A>GCA516674449IQSEC2c.1065T>C (p.Ser355=)
c.195T>C (p.Ser65=)
c.906T>C (p.Ser302=)
c.876T>C (p.Ser292=)
c.291T>C (p.Ser97=)
c.1002T>C (p.Ser334=)
c.228T>C (p.Ser76=)
n.1229T>C
c.408T>C (p.Ser136=)
n.1223T>C
Xg.53255893A>TCA413171531IQSEC2c.1065T>A (p.Ser355Arg)
c.195T>A (p.Ser65Arg)
c.906T>A (p.Ser302Arg)
c.876T>A (p.Ser292Arg)
c.291T>A (p.Ser97Arg)
c.1002T>A (p.Ser334Arg)
c.228T>A (p.Ser76Arg)
n.1229T>A
c.408T>A (p.Ser136Arg)
n.1223T>A
Xg.53255894C>ACA413171533IQSEC2c.1064G>T (p.Ser355Ile)
c.194G>T (p.Ser65Ile)
c.905G>T (p.Ser302Ile)
c.875G>T (p.Ser292Ile)
c.290G>T (p.Ser97Ile)
c.1001G>T (p.Ser334Ile)
c.227G>T (p.Ser76Ile)
n.1228G>T
c.407G>T (p.Ser136Ile)
n.1222G>T
Xg.53255894C>GCA413171535IQSEC2c.1064G>C (p.Ser355Thr)
c.194G>C (p.Ser65Thr)
c.905G>C (p.Ser302Thr)
c.875G>C (p.Ser292Thr)
c.290G>C (p.Ser97Thr)
c.1001G>C (p.Ser334Thr)
c.227G>C (p.Ser76Thr)
n.1228G>C
c.407G>C (p.Ser136Thr)
n.1222G>C
Xg.53255894C>TCA413171536IQSEC2c.1064G>A (p.Ser355Asn)
c.194G>A (p.Ser65Asn)
c.905G>A (p.Ser302Asn)
c.875G>A (p.Ser292Asn)
c.290G>A (p.Ser97Asn)
c.1001G>A (p.Ser334Asn)
c.227G>A (p.Ser76Asn)
n.1228G>A
c.407G>A (p.Ser136Asn)
n.1222G>A
Xg.53255895T>ACA413171541IQSEC2c.1063A>T (p.Ser355Cys)
c.193A>T (p.Ser65Cys)
c.904A>T (p.Ser302Cys)
c.874A>T (p.Ser292Cys)
c.289A>T (p.Ser97Cys)
c.1000A>T (p.Ser334Cys)
c.226A>T (p.Ser76Cys)
n.1227A>T
c.406A>T (p.Ser136Cys)
n.1221A>T
Xg.53255895T>CCA413171540IQSEC2c.1063A>G (p.Ser355Gly)
c.193A>G (p.Ser65Gly)
c.904A>G (p.Ser302Gly)
c.874A>G (p.Ser292Gly)
c.289A>G (p.Ser97Gly)
c.1000A>G (p.Ser334Gly)
c.226A>G (p.Ser76Gly)
n.1227A>G
c.406A>G (p.Ser136Gly)
n.1221A>G
Xg.53255895T>GCA413171539IQSEC2c.1063A>C (p.Ser355Arg)
c.193A>C (p.Ser65Arg)
c.904A>C (p.Ser302Arg)
c.874A>C (p.Ser292Arg)
c.289A>C (p.Ser97Arg)
c.1000A>C (p.Ser334Arg)
c.226A>C (p.Ser76Arg)
n.1227A>C
c.406A>C (p.Ser136Arg)
n.1221A>C
Xg.53255896G>ACA516674456IQSEC2c.1062C>T (p.Ala354=)
c.192C>T (p.Ala64=)
c.903C>T (p.Ala301=)
c.873C>T (p.Ala291=)
c.288C>T (p.Ala96=)
c.999C>T (p.Ala333=)
c.225C>T (p.Ala75=)
n.1226C>T
c.405C>T (p.Ala135=)
n.1220C>T
Xg.53255896G>CCA10420130IQSEC2c.1062C>G (p.Ala354=)
c.192C>G (p.Ala64=)
c.903C>G (p.Ala301=)
c.873C>G (p.Ala291=)
c.288C>G (p.Ala96=)
c.999C>G (p.Ala333=)
c.225C>G (p.Ala75=)
n.1226C>G
c.405C>G (p.Ala135=)
n.1220C>G
 ClinVar dbSNP ExAC gnomAD v2
Xg.53255896G=CA2429777189IQSEC2c.1062C= (p.Ala354=)
c.192C= (p.Ala64=)
c.903C= (p.Ala301=)
c.873C= (p.Ala291=)
c.288C= (p.Ala96=)
c.999C= (p.Ala333=)
c.225C= (p.Ala75=)
n.1226C=
c.405C= (p.Ala135=)
n.1220C=
Xg.53255896G>TCA516674453IQSEC2c.1062C>A (p.Ala354=)
c.192C>A (p.Ala64=)
c.903C>A (p.Ala301=)
c.873C>A (p.Ala291=)
c.288C>A (p.Ala96=)
c.999C>A (p.Ala333=)
c.225C>A (p.Ala75=)
n.1226C>A
c.405C>A (p.Ala135=)
n.1220C>A
Xg.53255897delCA2739273508IQSEC2c.1062del (p.Ser355ValfsTer4)
c.192del (p.Ser65ValfsTer4)
c.903del (p.Ser302ValfsTer4)
c.873del (p.Ser292ValfsTer4)
c.288del (p.Ser97ValfsTer4)
c.999del (p.Ser334ValfsTer4)
c.225del (p.Ser76ValfsTer4)
n.1226del
c.405del (p.Ser136ValfsTer4)
n.1220del
 ClinVar
Xg.53255897G>ACA413171544IQSEC2c.1061C>T (p.Ala354Val)
c.191C>T (p.Ala64Val)
c.902C>T (p.Ala301Val)
c.872C>T (p.Ala291Val)
c.287C>T (p.Ala96Val)
c.998C>T (p.Ala333Val)
c.224C>T (p.Ala75Val)
n.1225C>T
c.404C>T (p.Ala135Val)
n.1219C>T
Xg.53255897G>CCA413171548IQSEC2c.1061C>G (p.Ala354Gly)
c.191C>G (p.Ala64Gly)
c.902C>G (p.Ala301Gly)
c.872C>G (p.Ala291Gly)
c.287C>G (p.Ala96Gly)
c.998C>G (p.Ala333Gly)
c.224C>G (p.Ala75Gly)
n.1225C>G
c.404C>G (p.Ala135Gly)
n.1219C>G
Xg.53255897G>TCA413171550IQSEC2c.1061C>A (p.Ala354Asp)
c.191C>A (p.Ala64Asp)
c.902C>A (p.Ala301Asp)
c.872C>A (p.Ala291Asp)
c.287C>A (p.Ala96Asp)
c.998C>A (p.Ala333Asp)
c.224C>A (p.Ala75Asp)
n.1225C>A
c.404C>A (p.Ala135Asp)
n.1219C>A
Xg.53255898C>ACA413171552IQSEC2c.1060G>T (p.Ala354Ser)
c.190G>T (p.Ala64Ser)
c.901G>T (p.Ala301Ser)
c.871G>T (p.Ala291Ser)
c.286G>T (p.Ala96Ser)
c.997G>T (p.Ala333Ser)
c.223G>T (p.Ala75Ser)
n.1224G>T
c.403G>T (p.Ala135Ser)
n.1218G>T
Xg.53255898C>GCA413171553IQSEC2c.1060G>C (p.Ala354Pro)
c.190G>C (p.Ala64Pro)
c.901G>C (p.Ala301Pro)
c.871G>C (p.Ala291Pro)
c.286G>C (p.Ala96Pro)
c.997G>C (p.Ala333Pro)
c.223G>C (p.Ala75Pro)
n.1224G>C
c.403G>C (p.Ala135Pro)
n.1218G>C
Xg.53255898C>TCA413171554IQSEC2c.1060G>A (p.Ala354Thr)
c.190G>A (p.Ala64Thr)
c.901G>A (p.Ala301Thr)
c.871G>A (p.Ala291Thr)
c.286G>A (p.Ala96Thr)
c.997G>A (p.Ala333Thr)
c.223G>A (p.Ala75Thr)
n.1224G>A
c.403G>A (p.Ala135Thr)
n.1218G>A
Xg.53255899T>ACA516674464IQSEC2c.1059A>T (p.Pro353=)
c.189A>T (p.Pro63=)
c.900A>T (p.Pro300=)
c.870A>T (p.Pro290=)
c.285A>T (p.Pro95=)
c.996A>T (p.Pro332=)
c.222A>T (p.Pro74=)
n.1223A>T
c.402A>T (p.Pro134=)
n.1217A>T
Xg.53255899T>CCA516674465IQSEC2c.1059A>G (p.Pro353=)
c.189A>G (p.Pro63=)
c.900A>G (p.Pro300=)
c.870A>G (p.Pro290=)
c.285A>G (p.Pro95=)
c.996A>G (p.Pro332=)
c.222A>G (p.Pro74=)
n.1223A>G
c.402A>G (p.Pro134=)
n.1217A>G
 gnomAD v4
Xg.53255899T>GCA516674467IQSEC2c.1059A>C (p.Pro353=)
c.189A>C (p.Pro63=)
c.900A>C (p.Pro300=)
c.870A>C (p.Pro290=)
c.285A>C (p.Pro95=)
c.996A>C (p.Pro332=)
c.222A>C (p.Pro74=)
n.1223A>C
c.402A>C (p.Pro134=)
n.1217A>C
Xg.53255900G>ACA413171556IQSEC2c.1058C>T (p.Pro353Leu)
c.188C>T (p.Pro63Leu)
c.899C>T (p.Pro300Leu)
c.869C>T (p.Pro290Leu)
c.284C>T (p.Pro95Leu)
c.995C>T (p.Pro332Leu)
c.221C>T (p.Pro74Leu)
n.1222C>T
c.401C>T (p.Pro134Leu)
n.1216C>T
Xg.53255900G>CCA413171558IQSEC2c.1058C>G (p.Pro353Arg)
c.188C>G (p.Pro63Arg)
c.899C>G (p.Pro300Arg)
c.869C>G (p.Pro290Arg)
c.284C>G (p.Pro95Arg)
c.995C>G (p.Pro332Arg)
c.221C>G (p.Pro74Arg)
n.1222C>G
c.401C>G (p.Pro134Arg)
n.1216C>G
Xg.53255900G>TCA413171563IQSEC2c.1058C>A (p.Pro353Gln)
c.188C>A (p.Pro63Gln)
c.899C>A (p.Pro300Gln)
c.869C>A (p.Pro290Gln)
c.284C>A (p.Pro95Gln)
c.995C>A (p.Pro332Gln)
c.221C>A (p.Pro74Gln)
n.1222C>A
c.401C>A (p.Pro134Gln)
n.1216C>A
Xg.53255903_53255909dupCA2695233940IQSEC2c.1052_1058dup (p.Ala354ProfsTer26)
c.182_188dup (p.Ala64ProfsTer26)
c.893_899dup (p.Ala301ProfsTer26)
c.863_869dup (p.Ala291ProfsTer26)
c.278_284dup (p.Ala96ProfsTer26)
c.989_995dup (p.Ala333ProfsTer26)
c.215_221dup (p.Ala75ProfsTer26)
n.1216_1222dup
c.395_401dup (p.Ala135ProfsTer26)
n.1210_1216dup
Xg.53255901G>ACA413171565IQSEC2c.1057C>T (p.Pro353Ser)
c.187C>T (p.Pro63Ser)
c.898C>T (p.Pro300Ser)
c.868C>T (p.Pro290Ser)
c.283C>T (p.Pro95Ser)
c.994C>T (p.Pro332Ser)
c.220C>T (p.Pro74Ser)
n.1221C>T
c.400C>T (p.Pro134Ser)
n.1215C>T
Xg.53255901G>CCA413171566IQSEC2c.1057C>G (p.Pro353Ala)
c.187C>G (p.Pro63Ala)
c.898C>G (p.Pro300Ala)
c.868C>G (p.Pro290Ala)
c.283C>G (p.Pro95Ala)
c.994C>G (p.Pro332Ala)
c.220C>G (p.Pro74Ala)
n.1221C>G
c.400C>G (p.Pro134Ala)
n.1215C>G
Xg.53255901G>TCA413171567IQSEC2c.1057C>A (p.Pro353Thr)
c.187C>A (p.Pro63Thr)
c.898C>A (p.Pro300Thr)
c.868C>A (p.Pro290Thr)
c.283C>A (p.Pro95Thr)
c.994C>A (p.Pro332Thr)
c.220C>A (p.Pro74Thr)
n.1221C>A
c.400C>A (p.Pro134Thr)
n.1215C>A
Xg.53255902C>ACA413171568IQSEC2c.1056G>T (p.Gln352His)
c.186G>T (p.Gln62His)
c.897G>T (p.Gln299His)
c.867G>T (p.Gln289His)
c.282G>T (p.Gln94His)
c.993G>T (p.Gln331His)
c.219G>T (p.Gln73His)
n.1220G>T
c.399G>T (p.Gln133His)
n.1214G>T
Xg.53255902C>GCA413171569IQSEC2c.1056G>C (p.Gln352His)
c.186G>C (p.Gln62His)
c.897G>C (p.Gln299His)
c.867G>C (p.Gln289His)
c.282G>C (p.Gln94His)
c.993G>C (p.Gln331His)
c.219G>C (p.Gln73His)
n.1220G>C
c.399G>C (p.Gln133His)
n.1214G>C
Xg.53255902C>TCA516674471IQSEC2c.1056G>A (p.Gln352=)
c.186G>A (p.Gln62=)
c.897G>A (p.Gln299=)
c.867G>A (p.Gln289=)
c.282G>A (p.Gln94=)
c.993G>A (p.Gln331=)
c.219G>A (p.Gln73=)
n.1220G>A
c.399G>A (p.Gln133=)
n.1214G>A
Xg.53255903T>ACA413171571IQSEC2c.1055A>T (p.Gln352Leu)
c.185A>T (p.Gln62Leu)
c.896A>T (p.Gln299Leu)
c.866A>T (p.Gln289Leu)
c.281A>T (p.Gln94Leu)
c.992A>T (p.Gln331Leu)
c.218A>T (p.Gln73Leu)
n.1219A>T
c.398A>T (p.Gln133Leu)
n.1213A>T
Xg.53255903T>CCA413171574IQSEC2c.1055A>G (p.Gln352Arg)
c.185A>G (p.Gln62Arg)
c.896A>G (p.Gln299Arg)
c.866A>G (p.Gln289Arg)
c.281A>G (p.Gln94Arg)
c.992A>G (p.Gln331Arg)
c.218A>G (p.Gln73Arg)
n.1219A>G
c.398A>G (p.Gln133Arg)
n.1213A>G
Xg.53255903T>GCA413171573IQSEC2c.1055A>C (p.Gln352Pro)
c.185A>C (p.Gln62Pro)
c.896A>C (p.Gln299Pro)
c.866A>C (p.Gln289Pro)
c.281A>C (p.Gln94Pro)
c.992A>C (p.Gln331Pro)
c.218A>C (p.Gln73Pro)
n.1219A>C
c.398A>C (p.Gln133Pro)
n.1213A>C

Number of alleles fetched