Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.183289441C>ACA442557546WWC2c.3190C>A (p.Arg1064=)
c.*2582C>A (n.*2582C>A)
c.*986C>A (n.*986C>A)
c.3262C>A (p.Arg1088=)
c.2236C>A (p.Arg746=)
c.574C>A (p.Arg192=)
c.3043C>A (p.Arg1015=)
c.2968C>A (p.Arg990=)
4g.183289441C=CA1518546698WWC2c.3190C= (p.Arg1064=)
c.*2582C= (n.*2582C=)
c.*986C= (n.*986C=)
c.3262C= (p.Arg1088=)
c.2236C= (p.Arg746=)
c.574C= (p.Arg192=)
c.3043C= (p.Arg1015=)
c.2968C= (p.Arg990=)
4g.183289441C>GCA358845807WWC2c.3190C>G (p.Arg1064Gly)
c.*2582C>G (n.*2582C>G)
c.*986C>G (n.*986C>G)
c.3262C>G (p.Arg1088Gly)
c.2236C>G (p.Arg746Gly)
c.574C>G (p.Arg192Gly)
c.3043C>G (p.Arg1015Gly)
c.2968C>G (p.Arg990Gly)
4g.183289441C>TCA3150296WWC2c.3190C>T (p.Arg1064Trp)
c.*2582C>T (n.*2582C>T)
c.*986C>T (n.*986C>T)
c.3262C>T (p.Arg1088Trp)
c.2236C>T (p.Arg746Trp)
c.574C>T (p.Arg192Trp)
c.3043C>T (p.Arg1015Trp)
c.2968C>T (p.Arg990Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289442G>ACA3150297WWC2c.3191G>A (p.Arg1064Gln)
c.*2583G>A (n.*2583G>A)
c.*987G>A (n.*987G>A)
c.3263G>A (p.Arg1088Gln)
c.2237G>A (p.Arg746Gln)
c.575G>A (p.Arg192Gln)
c.3044G>A (p.Arg1015Gln)
c.2969G>A (p.Arg990Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289442G>CCA358845810WWC2c.3191G>C (p.Arg1064Pro)
c.*2583G>C (n.*2583G>C)
c.*987G>C (n.*987G>C)
c.3263G>C (p.Arg1088Pro)
c.2237G>C (p.Arg746Pro)
c.575G>C (p.Arg192Pro)
c.3044G>C (p.Arg1015Pro)
c.2969G>C (p.Arg990Pro)
4g.183289442G=CA1518546699WWC2c.3191G= (p.Arg1064=)
c.*2583G= (n.*2583G=)
c.*987G= (n.*987G=)
c.3263G= (p.Arg1088=)
c.2237G= (p.Arg746=)
c.575G= (p.Arg192=)
c.3044G= (p.Arg1015=)
c.2969G= (p.Arg990=)
4g.183289442G>TCA358845812WWC2c.3191G>T (p.Arg1064Leu)
c.*2583G>T (n.*2583G>T)
c.*987G>T (n.*987G>T)
c.3263G>T (p.Arg1088Leu)
c.2237G>T (p.Arg746Leu)
c.575G>T (p.Arg192Leu)
c.3044G>T (p.Arg1015Leu)
c.2969G>T (p.Arg990Leu)
4g.183289443G>ACA442557547WWC2c.3192G>A (p.Arg1064=)
c.*2584G>A (n.*2584G>A)
c.*988G>A (n.*988G>A)
c.3264G>A (p.Arg1088=)
c.2238G>A (p.Arg746=)
c.576G>A (p.Arg192=)
c.3045G>A (p.Arg1015=)
c.2970G>A (p.Arg990=)
dbSNP gnomAD v3 gnomAD v4
4g.183289443G>CCA442557548WWC2c.3192G>C (p.Arg1064=)
c.*2584G>C (n.*2584G>C)
c.*988G>C (n.*988G>C)
c.3264G>C (p.Arg1088=)
c.2238G>C (p.Arg746=)
c.576G>C (p.Arg192=)
c.3045G>C (p.Arg1015=)
c.2970G>C (p.Arg990=)
4g.183289443G=CA1518546700WWC2c.3192G= (p.Arg1064=)
c.*2584G= (n.*2584G=)
c.*988G= (n.*988G=)
c.3264G= (p.Arg1088=)
c.2238G= (p.Arg746=)
c.576G= (p.Arg192=)
c.3045G= (p.Arg1015=)
c.2970G= (p.Arg990=)
4g.183289443G>TCA442557549WWC2c.3192G>T (p.Arg1064=)
c.*2584G>T (n.*2584G>T)
c.*988G>T (n.*988G>T)
c.3264G>T (p.Arg1088=)
c.2238G>T (p.Arg746=)
c.576G>T (p.Arg192=)
c.3045G>T (p.Arg1015=)
c.2970G>T (p.Arg990=)
dbSNP
4g.183289444A>CCA358845813WWC2c.3193A>C (p.Thr1065Pro)
c.*2585A>C (n.*2585A>C)
c.*989A>C (n.*989A>C)
c.3265A>C (p.Thr1089Pro)
c.2239A>C (p.Thr747Pro)
c.577A>C (p.Thr193Pro)
c.3046A>C (p.Thr1016Pro)
c.2971A>C (p.Thr991Pro)
4g.183289444A>GCA358845815WWC2c.3193A>G (p.Thr1065Ala)
c.*2585A>G (n.*2585A>G)
c.*989A>G (n.*989A>G)
c.3265A>G (p.Thr1089Ala)
c.2239A>G (p.Thr747Ala)
c.577A>G (p.Thr193Ala)
c.3046A>G (p.Thr1016Ala)
c.2971A>G (p.Thr991Ala)
gnomAD v4
4g.183289444A>TCA358845816WWC2c.3193A>T (p.Thr1065Ser)
c.*2585A>T (n.*2585A>T)
c.*989A>T (n.*989A>T)
c.3265A>T (p.Thr1089Ser)
c.2239A>T (p.Thr747Ser)
c.577A>T (p.Thr193Ser)
c.3046A>T (p.Thr1016Ser)
c.2971A>T (p.Thr991Ser)
4g.183289445C>ACA358845818WWC2c.3194C>A (p.Thr1065Lys)
c.*2586C>A (n.*2586C>A)
c.*990C>A (n.*990C>A)
c.3266C>A (p.Thr1089Lys)
c.2240C>A (p.Thr747Lys)
c.578C>A (p.Thr193Lys)
c.3047C>A (p.Thr1016Lys)
c.2972C>A (p.Thr991Lys)
4g.183289445C>GCA358845819WWC2c.3194C>G (p.Thr1065Arg)
c.*2586C>G (n.*2586C>G)
c.*990C>G (n.*990C>G)
c.3266C>G (p.Thr1089Arg)
c.2240C>G (p.Thr747Arg)
c.578C>G (p.Thr193Arg)
c.3047C>G (p.Thr1016Arg)
c.2972C>G (p.Thr991Arg)
4g.183289445C>TCA358845821WWC2c.3194C>T (p.Thr1065Ile)
c.*2586C>T (n.*2586C>T)
c.*990C>T (n.*990C>T)
c.3266C>T (p.Thr1089Ile)
c.2240C>T (p.Thr747Ile)
c.578C>T (p.Thr193Ile)
c.3047C>T (p.Thr1016Ile)
c.2972C>T (p.Thr991Ile)
4g.183289446A=CA1518546701WWC2c.3195A= (p.Thr1065=)
c.*2587A= (n.*2587A=)
c.*991A= (n.*991A=)
c.3267A= (p.Thr1089=)
c.2241A= (p.Thr747=)
c.579A= (p.Thr193=)
c.3048A= (p.Thr1016=)
c.2973A= (p.Thr991=)
4g.183289446A>CCA3150299WWC2c.3195A>C (p.Thr1065=)
c.*2587A>C (n.*2587A>C)
c.*991A>C (n.*991A>C)
c.3267A>C (p.Thr1089=)
c.2241A>C (p.Thr747=)
c.579A>C (p.Thr193=)
c.3048A>C (p.Thr1016=)
c.2973A>C (p.Thr991=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289446A>GCA3150298WWC2c.3195A>G (p.Thr1065=)
c.*2587A>G (n.*2587A>G)
c.*991A>G (n.*991A>G)
c.3267A>G (p.Thr1089=)
c.2241A>G (p.Thr747=)
c.579A>G (p.Thr193=)
c.3048A>G (p.Thr1016=)
c.2973A>G (p.Thr991=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289446A>TCA442557550WWC2c.3195A>T (p.Thr1065=)
c.*2587A>T (n.*2587A>T)
c.*991A>T (n.*991A>T)
c.3267A>T (p.Thr1089=)
c.2241A>T (p.Thr747=)
c.579A>T (p.Thr193=)
c.3048A>T (p.Thr1016=)
c.2973A>T (p.Thr991=)
4g.183289447T>ACA358845826WWC2c.3196T>A (p.Ser1066Thr)
c.*2588T>A (n.*2588T>A)
c.*992T>A (n.*992T>A)
c.3268T>A (p.Ser1090Thr)
c.2242T>A (p.Ser748Thr)
c.580T>A (p.Ser194Thr)
c.3049T>A (p.Ser1017Thr)
c.2974T>A (p.Ser992Thr)
4g.183289447T>CCA358845827WWC2c.3196T>C (p.Ser1066Pro)
c.*2588T>C (n.*2588T>C)
c.*992T>C (n.*992T>C)
c.3268T>C (p.Ser1090Pro)
c.2242T>C (p.Ser748Pro)
c.580T>C (p.Ser194Pro)
c.3049T>C (p.Ser1017Pro)
c.2974T>C (p.Ser992Pro)
4g.183289447T>GCA358845825WWC2c.3196T>G (p.Ser1066Ala)
c.*2588T>G (n.*2588T>G)
c.*992T>G (n.*992T>G)
c.3268T>G (p.Ser1090Ala)
c.2242T>G (p.Ser748Ala)
c.580T>G (p.Ser194Ala)
c.3049T>G (p.Ser1017Ala)
c.2974T>G (p.Ser992Ala)
4g.183289448C>ACA358845829WWC2c.3197C>A (p.Ser1066Tyr)
c.*2589C>A (n.*2589C>A)
c.*993C>A (n.*993C>A)
c.3269C>A (p.Ser1090Tyr)
c.2243C>A (p.Ser748Tyr)
c.581C>A (p.Ser194Tyr)
c.3050C>A (p.Ser1017Tyr)
c.2975C>A (p.Ser992Tyr)
gnomAD v4 COSMIC COSMIC COSMIC
4g.183289448C>GCA358845830WWC2c.3197C>G (p.Ser1066Cys)
c.*2589C>G (n.*2589C>G)
c.*993C>G (n.*993C>G)
c.3269C>G (p.Ser1090Cys)
c.2243C>G (p.Ser748Cys)
c.581C>G (p.Ser194Cys)
c.3050C>G (p.Ser1017Cys)
c.2975C>G (p.Ser992Cys)
4g.183289448C>TCA358845832WWC2c.3197C>T (p.Ser1066Phe)
c.*2589C>T (n.*2589C>T)
c.*993C>T (n.*993C>T)
c.3269C>T (p.Ser1090Phe)
c.2243C>T (p.Ser748Phe)
c.581C>T (p.Ser194Phe)
c.3050C>T (p.Ser1017Phe)
c.2975C>T (p.Ser992Phe)
gnomAD v4
4g.183289449T>ACA442557552WWC2c.3198T>A (p.Ser1066=)
c.*2590T>A (n.*2590T>A)
c.*994T>A (n.*994T>A)
c.3270T>A (p.Ser1090=)
c.2244T>A (p.Ser748=)
c.582T>A (p.Ser194=)
c.3051T>A (p.Ser1017=)
c.2976T>A (p.Ser992=)
4g.183289449T>CCA442557553WWC2c.3198T>C (p.Ser1066=)
c.*2590T>C (n.*2590T>C)
c.*994T>C (n.*994T>C)
c.3270T>C (p.Ser1090=)
c.2244T>C (p.Ser748=)
c.582T>C (p.Ser194=)
c.3051T>C (p.Ser1017=)
c.2976T>C (p.Ser992=)
4g.183289449T>GCA442557554WWC2c.3198T>G (p.Ser1066=)
c.*2590T>G (n.*2590T>G)
c.*994T>G (n.*994T>G)
c.3270T>G (p.Ser1090=)
c.2244T>G (p.Ser748=)
c.582T>G (p.Ser194=)
c.3051T>G (p.Ser1017=)
c.2976T>G (p.Ser992=)
4g.183289450C>ACA358845834WWC2c.3199C>A (p.Leu1067Ile)
c.*2591C>A (n.*2591C>A)
c.*995C>A (n.*995C>A)
c.3271C>A (p.Leu1091Ile)
c.2245C>A (p.Leu749Ile)
c.583C>A (p.Leu195Ile)
c.3052C>A (p.Leu1018Ile)
c.2977C>A (p.Leu993Ile)
4g.183289450C>GCA358845836WWC2c.3199C>G (p.Leu1067Val)
c.*2591C>G (n.*2591C>G)
c.*995C>G (n.*995C>G)
c.3271C>G (p.Leu1091Val)
c.2245C>G (p.Leu749Val)
c.583C>G (p.Leu195Val)
c.3052C>G (p.Leu1018Val)
c.2977C>G (p.Leu993Val)
4g.183289450C>TCA442557555WWC2c.3199C>T (p.Leu1067=)
c.*2591C>T (n.*2591C>T)
c.*995C>T (n.*995C>T)
c.3271C>T (p.Leu1091=)
c.2245C>T (p.Leu749=)
c.583C>T (p.Leu195=)
c.3052C>T (p.Leu1018=)
c.2977C>T (p.Leu993=)
4g.183289451T>ACA358845838WWC2c.3200T>A (p.Leu1067Gln)
c.*2592T>A (n.*2592T>A)
c.*996T>A (n.*996T>A)
c.3272T>A (p.Leu1091Gln)
c.2246T>A (p.Leu749Gln)
c.584T>A (p.Leu195Gln)
c.3053T>A (p.Leu1018Gln)
c.2978T>A (p.Leu993Gln)
4g.183289451T>CCA358845840WWC2c.3200T>C (p.Leu1067Pro)
c.*2592T>C (n.*2592T>C)
c.*996T>C (n.*996T>C)
c.3272T>C (p.Leu1091Pro)
c.2246T>C (p.Leu749Pro)
c.584T>C (p.Leu195Pro)
c.3053T>C (p.Leu1018Pro)
c.2978T>C (p.Leu993Pro)
4g.183289451T>GCA358845842WWC2c.3200T>G (p.Leu1067Arg)
c.*2592T>G (n.*2592T>G)
c.*996T>G (n.*996T>G)
c.3272T>G (p.Leu1091Arg)
c.2246T>G (p.Leu749Arg)
c.584T>G (p.Leu195Arg)
c.3053T>G (p.Leu1018Arg)
c.2978T>G (p.Leu993Arg)
gnomAD v4
4g.183289452A=CA1518546702WWC2c.3201A= (p.Leu1067=)
c.*2593A= (n.*2593A=)
c.*997A= (n.*997A=)
c.3273A= (p.Leu1091=)
c.2247A= (p.Leu749=)
c.585A= (p.Leu195=)
c.3054A= (p.Leu1018=)
c.2979A= (p.Leu993=)
4g.183289452A>CCA442557557WWC2c.3201A>C (p.Leu1067=)
c.*2593A>C (n.*2593A>C)
c.*997A>C (n.*997A>C)
c.3273A>C (p.Leu1091=)
c.2247A>C (p.Leu749=)
c.585A>C (p.Leu195=)
c.3054A>C (p.Leu1018=)
c.2979A>C (p.Leu993=)
4g.183289452A>GCA3150300WWC2c.3201A>G (p.Leu1067=)
c.*2593A>G (n.*2593A>G)
c.*997A>G (n.*997A>G)
c.3273A>G (p.Leu1091=)
c.2247A>G (p.Leu749=)
c.585A>G (p.Leu195=)
c.3054A>G (p.Leu1018=)
c.2979A>G (p.Leu993=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289452A>TCA442557559WWC2c.3201A>T (p.Leu1067=)
c.*2593A>T (n.*2593A>T)
c.*997A>T (n.*997A>T)
c.3273A>T (p.Leu1091=)
c.2247A>T (p.Leu749=)
c.585A>T (p.Leu195=)
c.3054A>T (p.Leu1018=)
c.2979A>T (p.Leu993=)
4g.183289453G>ACA358845845WWC2c.3202G>A (p.Asp1068Asn)
c.*2594G>A (n.*2594G>A)
c.*998G>A (n.*998G>A)
c.3274G>A (p.Asp1092Asn)
c.2248G>A (p.Asp750Asn)
c.586G>A (p.Asp196Asn)
c.3055G>A (p.Asp1019Asn)
c.2980G>A (p.Asp994Asn)
gnomAD v4
4g.183289453G>CCA358845848WWC2c.3202G>C (p.Asp1068His)
c.*2594G>C (n.*2594G>C)
c.*998G>C (n.*998G>C)
c.3274G>C (p.Asp1092His)
c.2248G>C (p.Asp750His)
c.586G>C (p.Asp196His)
c.3055G>C (p.Asp1019His)
c.2980G>C (p.Asp994His)
4g.183289453G>TCA358845850WWC2c.3202G>T (p.Asp1068Tyr)
c.*2594G>T (n.*2594G>T)
c.*998G>T (n.*998G>T)
c.3274G>T (p.Asp1092Tyr)
c.2248G>T (p.Asp750Tyr)
c.586G>T (p.Asp196Tyr)
c.3055G>T (p.Asp1019Tyr)
c.2980G>T (p.Asp994Tyr)
4g.183289454A>CCA358845854WWC2c.3203A>C (p.Asp1068Ala)
c.*2595A>C (n.*2595A>C)
c.*999A>C (n.*999A>C)
c.3275A>C (p.Asp1092Ala)
c.2249A>C (p.Asp750Ala)
c.587A>C (p.Asp196Ala)
c.3056A>C (p.Asp1019Ala)
c.2981A>C (p.Asp994Ala)
4g.183289454A>GCA358845856WWC2c.3203A>G (p.Asp1068Gly)
c.*2595A>G (n.*2595A>G)
c.*999A>G (n.*999A>G)
c.3275A>G (p.Asp1092Gly)
c.2249A>G (p.Asp750Gly)
c.587A>G (p.Asp196Gly)
c.3056A>G (p.Asp1019Gly)
c.2981A>G (p.Asp994Gly)
4g.183289454A>TCA358845852WWC2c.3203A>T (p.Asp1068Val)
c.*2595A>T (n.*2595A>T)
c.*999A>T (n.*999A>T)
c.3275A>T (p.Asp1092Val)
c.2249A>T (p.Asp750Val)
c.587A>T (p.Asp196Val)
c.3056A>T (p.Asp1019Val)
c.2981A>T (p.Asp994Val)
4g.183289455C>ACA358845858WWC2c.3204C>A (p.Asp1068Glu)
c.*2596C>A (n.*2596C>A)
c.*1000C>A (n.*1000C>A)
c.3276C>A (p.Asp1092Glu)
c.2250C>A (p.Asp750Glu)
c.588C>A (p.Asp196Glu)
c.3057C>A (p.Asp1019Glu)
c.2982C>A (p.Asp994Glu)
4g.183289455C=CA1518546703WWC2c.3204C= (p.Asp1068=)
c.*2596C= (n.*2596C=)
c.*1000C= (n.*1000C=)
c.3276C= (p.Asp1092=)
c.2250C= (p.Asp750=)
c.588C= (p.Asp196=)
c.3057C= (p.Asp1019=)
c.2982C= (p.Asp994=)
4g.183289455C>GCA358845860WWC2c.3204C>G (p.Asp1068Glu)
c.*2596C>G (n.*2596C>G)
c.*1000C>G (n.*1000C>G)
c.3276C>G (p.Asp1092Glu)
c.2250C>G (p.Asp750Glu)
c.588C>G (p.Asp196Glu)
c.3057C>G (p.Asp1019Glu)
c.2982C>G (p.Asp994Glu)
dbSNP gnomAD v3 gnomAD v4
4g.183289455C>TCA442557561WWC2c.3204C>T (p.Asp1068=)
c.*2596C>T (n.*2596C>T)
c.*1000C>T (n.*1000C>T)
c.3276C>T (p.Asp1092=)
c.2250C>T (p.Asp750=)
c.588C>T (p.Asp196=)
c.3057C>T (p.Asp1019=)
c.2982C>T (p.Asp994=)
gnomAD v4
4g.183289456T>ACA358845862WWC2c.3205T>A (p.Leu1069Ile)
c.*2597T>A (n.*2597T>A)
c.*1001T>A (n.*1001T>A)
c.3277T>A (p.Leu1093Ile)
c.2251T>A (p.Leu751Ile)
c.589T>A (p.Leu197Ile)
c.3058T>A (p.Leu1020Ile)
c.2983T>A (p.Leu995Ile)
4g.183289456T>CCA442557564WWC2c.3205T>C (p.Leu1069=)
c.*2597T>C (n.*2597T>C)
c.*1001T>C (n.*1001T>C)
c.3277T>C (p.Leu1093=)
c.2251T>C (p.Leu751=)
c.589T>C (p.Leu197=)
c.3058T>C (p.Leu1020=)
c.2983T>C (p.Leu995=)
4g.183289456T>GCA358845863WWC2c.3205T>G (p.Leu1069Val)
c.*2597T>G (n.*2597T>G)
c.*1001T>G (n.*1001T>G)
c.3277T>G (p.Leu1093Val)
c.2251T>G (p.Leu751Val)
c.589T>G (p.Leu197Val)
c.3058T>G (p.Leu1020Val)
c.2983T>G (p.Leu995Val)
4g.183289457T>ACA358845867WWC2c.3206T>A (p.Leu1069Ter)
c.*2598T>A (n.*2598T>A)
c.*1002T>A (n.*1002T>A)
c.3278T>A (p.Leu1093Ter)
c.2252T>A (p.Leu751Ter)
c.590T>A (p.Leu197Ter)
c.3059T>A (p.Leu1020Ter)
c.2984T>A (p.Leu995Ter)
4g.183289457T>CCA358845865WWC2c.3206T>C (p.Leu1069Ser)
c.*2598T>C (n.*2598T>C)
c.*1002T>C (n.*1002T>C)
c.3278T>C (p.Leu1093Ser)
c.2252T>C (p.Leu751Ser)
c.590T>C (p.Leu197Ser)
c.3059T>C (p.Leu1020Ser)
c.2984T>C (p.Leu995Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.183289457T>GCA111773385WWC2c.3206T>G (p.Leu1069Ter)
c.*2598T>G (n.*2598T>G)
c.*1002T>G (n.*1002T>G)
c.3278T>G (p.Leu1093Ter)
c.2252T>G (p.Leu751Ter)
c.590T>G (p.Leu197Ter)
c.3059T>G (p.Leu1020Ter)
c.2984T>G (p.Leu995Ter)
dbSNP gnomAD v3 gnomAD v4
4g.183289457T=CA1518546704WWC2c.3206T= (p.Leu1069=)
c.*2598T= (n.*2598T=)
c.*1002T= (n.*1002T=)
c.3278T= (p.Leu1093=)
c.2252T= (p.Leu751=)
c.590T= (p.Leu197=)
c.3059T= (p.Leu1020=)
c.2984T= (p.Leu995=)
4g.183289458A=CA1518546705WWC2c.3207A= (p.Leu1069=)
c.*2599A= (n.*2599A=)
c.*1003A= (n.*1003A=)
c.3279A= (p.Leu1093=)
c.2253A= (p.Leu751=)
c.591A= (p.Leu197=)
c.3060A= (p.Leu1020=)
c.2985A= (p.Leu995=)
4g.183289458A>CCA3150301WWC2c.3207A>C (p.Leu1069Phe)
c.*2599A>C (n.*2599A>C)
c.*1003A>C (n.*1003A>C)
c.3279A>C (p.Leu1093Phe)
c.2253A>C (p.Leu751Phe)
c.591A>C (p.Leu197Phe)
c.3060A>C (p.Leu1020Phe)
c.2985A>C (p.Leu995Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289458A>GCA3150302WWC2c.3207A>G (p.Leu1069=)
c.*2599A>G (n.*2599A>G)
c.*1003A>G (n.*1003A>G)
c.3279A>G (p.Leu1093=)
c.2253A>G (p.Leu751=)
c.591A>G (p.Leu197=)
c.3060A>G (p.Leu1020=)
c.2985A>G (p.Leu995=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289458A>TCA358845871WWC2c.3207A>T (p.Leu1069Phe)
c.*2599A>T (n.*2599A>T)
c.*1003A>T (n.*1003A>T)
c.3279A>T (p.Leu1093Phe)
c.2253A>T (p.Leu751Phe)
c.591A>T (p.Leu197Phe)
c.3060A>T (p.Leu1020Phe)
c.2985A>T (p.Leu995Phe)
4g.183289459G>ACA358845873WWC2c.3208G>A (p.Glu1070Lys)
c.*2600G>A (n.*2600G>A)
c.*1004G>A (n.*1004G>A)
c.3280G>A (p.Glu1094Lys)
c.2254G>A (p.Glu752Lys)
c.592G>A (p.Glu198Lys)
c.3061G>A (p.Glu1021Lys)
c.2986G>A (p.Glu996Lys)
COSMIC COSMIC COSMIC
4g.183289459G>CCA358845875WWC2c.3208G>C (p.Glu1070Gln)
c.*2600G>C (n.*2600G>C)
c.*1004G>C (n.*1004G>C)
c.3280G>C (p.Glu1094Gln)
c.2254G>C (p.Glu752Gln)
c.592G>C (p.Glu198Gln)
c.3061G>C (p.Glu1021Gln)
c.2986G>C (p.Glu996Gln)
gnomAD v4
4g.183289459G>TCA358845877WWC2c.3208G>T (p.Glu1070Ter)
c.*2600G>T (n.*2600G>T)
c.*1004G>T (n.*1004G>T)
c.3280G>T (p.Glu1094Ter)
c.2254G>T (p.Glu752Ter)
c.592G>T (p.Glu198Ter)
c.3061G>T (p.Glu1021Ter)
c.2986G>T (p.Glu996Ter)
4g.183289460A>CCA358845879WWC2c.3209A>C (p.Glu1070Ala)
c.*2601A>C (n.*2601A>C)
c.*1005A>C (n.*1005A>C)
c.3281A>C (p.Glu1094Ala)
c.2255A>C (p.Glu752Ala)
c.593A>C (p.Glu198Ala)
c.3062A>C (p.Glu1021Ala)
c.2987A>C (p.Glu996Ala)
4g.183289460A>GCA358845883WWC2c.3209A>G (p.Glu1070Gly)
c.*2601A>G (n.*2601A>G)
c.*1005A>G (n.*1005A>G)
c.3281A>G (p.Glu1094Gly)
c.2255A>G (p.Glu752Gly)
c.593A>G (p.Glu198Gly)
c.3062A>G (p.Glu1021Gly)
c.2987A>G (p.Glu996Gly)
4g.183289460A>TCA358845881WWC2c.3209A>T (p.Glu1070Val)
c.*2601A>T (n.*2601A>T)
c.*1005A>T (n.*1005A>T)
c.3281A>T (p.Glu1094Val)
c.2255A>T (p.Glu752Val)
c.593A>T (p.Glu198Val)
c.3062A>T (p.Glu1021Val)
c.2987A>T (p.Glu996Val)
4g.183289461A>CCA358845885WWC2c.3210A>C (p.Glu1070Asp)
c.*2602A>C (n.*2602A>C)
c.*1006A>C (n.*1006A>C)
c.3282A>C (p.Glu1094Asp)
c.2256A>C (p.Glu752Asp)
c.594A>C (p.Glu198Asp)
c.3063A>C (p.Glu1021Asp)
c.2988A>C (p.Glu996Asp)
4g.183289461A>GCA442557570WWC2c.3210A>G (p.Glu1070=)
c.*2602A>G (n.*2602A>G)
c.*1006A>G (n.*1006A>G)
c.3282A>G (p.Glu1094=)
c.2256A>G (p.Glu752=)
c.594A>G (p.Glu198=)
c.3063A>G (p.Glu1021=)
c.2988A>G (p.Glu996=)
4g.183289461A>TCA358845886WWC2c.3210A>T (p.Glu1070Asp)
c.*2602A>T (n.*2602A>T)
c.*1006A>T (n.*1006A>T)
c.3282A>T (p.Glu1094Asp)
c.2256A>T (p.Glu752Asp)
c.594A>T (p.Glu198Asp)
c.3063A>T (p.Glu1021Asp)
c.2988A>T (p.Glu996Asp)
4g.183289462C>ACA358845889WWC2c.3211C>A (p.Leu1071Met)
c.*2603C>A (n.*2603C>A)
c.*1007C>A (n.*1007C>A)
c.3283C>A (p.Leu1095Met)
c.2257C>A (p.Leu753Met)
c.595C>A (p.Leu199Met)
c.3064C>A (p.Leu1022Met)
c.2989C>A (p.Leu997Met)
4g.183289462C>GCA358845890WWC2c.3211C>G (p.Leu1071Val)
c.*2603C>G (n.*2603C>G)
c.*1007C>G (n.*1007C>G)
c.3283C>G (p.Leu1095Val)
c.2257C>G (p.Leu753Val)
c.595C>G (p.Leu199Val)
c.3064C>G (p.Leu1022Val)
c.2989C>G (p.Leu997Val)
4g.183289462C>TCA442557572WWC2c.3211C>T (p.Leu1071=)
c.*2603C>T (n.*2603C>T)
c.*1007C>T (n.*1007C>T)
c.3283C>T (p.Leu1095=)
c.2257C>T (p.Leu753=)
c.595C>T (p.Leu199=)
c.3064C>T (p.Leu1022=)
c.2989C>T (p.Leu997=)
dbSNP
4g.183289463T>ACA358845893WWC2c.3212T>A (p.Leu1071Gln)
c.*2604T>A (n.*2604T>A)
c.*1008T>A (n.*1008T>A)
c.3284T>A (p.Leu1095Gln)
c.2258T>A (p.Leu753Gln)
c.596T>A (p.Leu199Gln)
c.3065T>A (p.Leu1022Gln)
c.2990T>A (p.Leu997Gln)
4g.183289463T>CCA358845895WWC2c.3212T>C (p.Leu1071Pro)
c.*2604T>C (n.*2604T>C)
c.*1008T>C (n.*1008T>C)
c.3284T>C (p.Leu1095Pro)
c.2258T>C (p.Leu753Pro)
c.596T>C (p.Leu199Pro)
c.3065T>C (p.Leu1022Pro)
c.2990T>C (p.Leu997Pro)
dbSNP gnomAD v2 gnomAD v4
4g.183289463T>GCA358845896WWC2c.3212T>G (p.Leu1071Arg)
c.*2604T>G (n.*2604T>G)
c.*1008T>G (n.*1008T>G)
c.3284T>G (p.Leu1095Arg)
c.2258T>G (p.Leu753Arg)
c.596T>G (p.Leu199Arg)
c.3065T>G (p.Leu1022Arg)
c.2990T>G (p.Leu997Arg)
dbSNP
4g.183289463T=CA1518546706WWC2c.3212T= (p.Leu1071=)
c.*2604T= (n.*2604T=)
c.*1008T= (n.*1008T=)
c.3284T= (p.Leu1095=)
c.2258T= (p.Leu753=)
c.596T= (p.Leu199=)
c.3065T= (p.Leu1022=)
c.2990T= (p.Leu997=)
4g.183289464G>ACA442557611WWC2c.3213G>A (p.Leu1071=)
c.*2605G>A (n.*2605G>A)
c.*1009G>A (n.*1009G>A)
c.3285G>A (p.Leu1095=)
c.2259G>A (p.Leu753=)
c.597G>A (p.Leu199=)
c.3066G>A (p.Leu1022=)
c.2991G>A (p.Leu997=)
dbSNP gnomAD v2 gnomAD v4
4g.183289464G>CCA442557612WWC2c.3213G>C (p.Leu1071=)
c.*2605G>C (n.*2605G>C)
c.*1009G>C (n.*1009G>C)
c.3285G>C (p.Leu1095=)
c.2259G>C (p.Leu753=)
c.597G>C (p.Leu199=)
c.3066G>C (p.Leu1022=)
c.2991G>C (p.Leu997=)
4g.183289464G=CA1518546707WWC2c.3213G= (p.Leu1071=)
c.*2605G= (n.*2605G=)
c.*1009G= (n.*1009G=)
c.3285G= (p.Leu1095=)
c.2259G= (p.Leu753=)
c.597G= (p.Leu199=)
c.3066G= (p.Leu1022=)
c.2991G= (p.Leu997=)
4g.183289464G>TCA442557613WWC2c.3213G>T (p.Leu1071=)
c.*2605G>T (n.*2605G>T)
c.*1009G>T (n.*1009G>T)
c.3285G>T (p.Leu1095=)
c.2259G>T (p.Leu753=)
c.597G>T (p.Leu199=)
c.3066G>T (p.Leu1022=)
c.2991G>T (p.Leu997=)
4g.183289465G>ACA358845899WWC2c.3214G>A (p.Asp1072Asn)
c.*2606G>A (n.*2606G>A)
c.*1010G>A (n.*1010G>A)
c.3286G>A (p.Asp1096Asn)
c.2260G>A (p.Asp754Asn)
c.598G>A (p.Asp200Asn)
c.3067G>A (p.Asp1023Asn)
c.2992G>A (p.Asp998Asn)
gnomAD v4
4g.183289465G>CCA358845901WWC2c.3214G>C (p.Asp1072His)
c.*2606G>C (n.*2606G>C)
c.*1010G>C (n.*1010G>C)
c.3286G>C (p.Asp1096His)
c.2260G>C (p.Asp754His)
c.598G>C (p.Asp200His)
c.3067G>C (p.Asp1023His)
c.2992G>C (p.Asp998His)
4g.183289465G>TCA358845903WWC2c.3214G>T (p.Asp1072Tyr)
c.*2606G>T (n.*2606G>T)
c.*1010G>T (n.*1010G>T)
c.3286G>T (p.Asp1096Tyr)
c.2260G>T (p.Asp754Tyr)
c.598G>T (p.Asp200Tyr)
c.3067G>T (p.Asp1023Tyr)
c.2992G>T (p.Asp998Tyr)
gnomAD v4
4g.183289466A=CA1518546708WWC2c.3215A= (p.Asp1072=)
c.*2607A= (n.*2607A=)
c.*1011A= (n.*1011A=)
c.3287A= (p.Asp1096=)
c.2261A= (p.Asp754=)
c.599A= (p.Asp200=)
c.3068A= (p.Asp1023=)
c.2993A= (p.Asp998=)
4g.183289466A>CCA358845905WWC2c.3215A>C (p.Asp1072Ala)
c.*2607A>C (n.*2607A>C)
c.*1011A>C (n.*1011A>C)
c.3287A>C (p.Asp1096Ala)
c.2261A>C (p.Asp754Ala)
c.599A>C (p.Asp200Ala)
c.3068A>C (p.Asp1023Ala)
c.2993A>C (p.Asp998Ala)
4g.183289466A>GCA358845907WWC2c.3215A>G (p.Asp1072Gly)
c.*2607A>G (n.*2607A>G)
c.*1011A>G (n.*1011A>G)
c.3287A>G (p.Asp1096Gly)
c.2261A>G (p.Asp754Gly)
c.599A>G (p.Asp200Gly)
c.3068A>G (p.Asp1023Gly)
c.2993A>G (p.Asp998Gly)
4g.183289466A>TCA358845909WWC2c.3215A>T (p.Asp1072Val)
c.*2607A>T (n.*2607A>T)
c.*1011A>T (n.*1011A>T)
c.3287A>T (p.Asp1096Val)
c.2261A>T (p.Asp754Val)
c.599A>T (p.Asp200Val)
c.3068A>T (p.Asp1023Val)
c.2993A>T (p.Asp998Val)
dbSNP gnomAD v2 gnomAD v4
4g.183289467C>ACA358845911WWC2c.3216C>A (p.Asp1072Glu)
c.*2608C>A (n.*2608C>A)
c.*1012C>A (n.*1012C>A)
c.3288C>A (p.Asp1096Glu)
c.2262C>A (p.Asp754Glu)
c.600C>A (p.Asp200Glu)
c.3069C>A (p.Asp1023Glu)
c.2994C>A (p.Asp998Glu)
4g.183289467C=CA1518546709WWC2c.3216C= (p.Asp1072=)
c.*2608C= (n.*2608C=)
c.*1012C= (n.*1012C=)
c.3288C= (p.Asp1096=)
c.2262C= (p.Asp754=)
c.600C= (p.Asp200=)
c.3069C= (p.Asp1023=)
c.2994C= (p.Asp998=)
4g.183289467C>GCA358845913WWC2c.3216C>G (p.Asp1072Glu)
c.*2608C>G (n.*2608C>G)
c.*1012C>G (n.*1012C>G)
c.3288C>G (p.Asp1096Glu)
c.2262C>G (p.Asp754Glu)
c.600C>G (p.Asp200Glu)
c.3069C>G (p.Asp1023Glu)
c.2994C>G (p.Asp998Glu)
4g.183289467C>TCA442557614WWC2c.3216C>T (p.Asp1072=)
c.*2608C>T (n.*2608C>T)
c.*1012C>T (n.*1012C>T)
c.3288C>T (p.Asp1096=)
c.2262C>T (p.Asp754=)
c.600C>T (p.Asp200=)
c.3069C>T (p.Asp1023=)
c.2994C>T (p.Asp998=)
dbSNP gnomAD v3 gnomAD v4
4g.183289468C>ACA358845919WWC2c.3217C>A (p.Leu1073Ile)
c.*2609C>A (n.*2609C>A)
c.*1013C>A (n.*1013C>A)
c.3289C>A (p.Leu1097Ile)
c.2263C>A (p.Leu755Ile)
c.601C>A (p.Leu201Ile)
c.3070C>A (p.Leu1024Ile)
c.2995C>A (p.Leu999Ile)
gnomAD v4
4g.183289468C=CA1518546710WWC2c.3217C= (p.Leu1073=)
c.*2609C= (n.*2609C=)
c.*1013C= (n.*1013C=)
c.3289C= (p.Leu1097=)
c.2263C= (p.Leu755=)
c.601C= (p.Leu201=)
c.3070C= (p.Leu1024=)
c.2995C= (p.Leu999=)
4g.183289468C>GCA358845916WWC2c.3217C>G (p.Leu1073Val)
c.*2609C>G (n.*2609C>G)
c.*1013C>G (n.*1013C>G)
c.3289C>G (p.Leu1097Val)
c.2263C>G (p.Leu755Val)
c.601C>G (p.Leu201Val)
c.3070C>G (p.Leu1024Val)
c.2995C>G (p.Leu999Val)
4g.183289468C>TCA358845917WWC2c.3217C>T (p.Leu1073Phe)
c.*2609C>T (n.*2609C>T)
c.*1013C>T (n.*1013C>T)
c.3289C>T (p.Leu1097Phe)
c.2263C>T (p.Leu755Phe)
c.601C>T (p.Leu201Phe)
c.3070C>T (p.Leu1024Phe)
c.2995C>T (p.Leu999Phe)
dbSNP
4g.183289469T>ACA358845922WWC2c.3218T>A (p.Leu1073His)
c.*2610T>A (n.*2610T>A)
c.*1014T>A (n.*1014T>A)
c.3290T>A (p.Leu1097His)
c.2264T>A (p.Leu755His)
c.602T>A (p.Leu201His)
c.3071T>A (p.Leu1024His)
c.2996T>A (p.Leu999His)
4g.183289469T>CCA358845923WWC2c.3218T>C (p.Leu1073Pro)
c.*2610T>C (n.*2610T>C)
c.*1014T>C (n.*1014T>C)
c.3290T>C (p.Leu1097Pro)
c.2264T>C (p.Leu755Pro)
c.602T>C (p.Leu201Pro)
c.3071T>C (p.Leu1024Pro)
c.2996T>C (p.Leu999Pro)
4g.183289469T>GCA358845925WWC2c.3218T>G (p.Leu1073Arg)
c.*2610T>G (n.*2610T>G)
c.*1014T>G (n.*1014T>G)
c.3290T>G (p.Leu1097Arg)
c.2264T>G (p.Leu755Arg)
c.602T>G (p.Leu201Arg)
c.3071T>G (p.Leu1024Arg)
c.2996T>G (p.Leu999Arg)
COSMIC
4g.183289470T>ACA442557615WWC2c.3219T>A (p.Leu1073=)
c.*2611T>A (n.*2611T>A)
c.*1015T>A (n.*1015T>A)
c.3291T>A (p.Leu1097=)
c.2265T>A (p.Leu755=)
c.603T>A (p.Leu201=)
c.3072T>A (p.Leu1024=)
c.2997T>A (p.Leu999=)
4g.183289470T>CCA442557616WWC2c.3219T>C (p.Leu1073=)
c.*2611T>C (n.*2611T>C)
c.*1015T>C (n.*1015T>C)
c.3291T>C (p.Leu1097=)
c.2265T>C (p.Leu755=)
c.603T>C (p.Leu201=)
c.3072T>C (p.Leu1024=)
c.2997T>C (p.Leu999=)
dbSNP gnomAD v2 gnomAD v4
4g.183289470T>GCA442557617WWC2c.3219T>G (p.Leu1073=)
c.*2611T>G (n.*2611T>G)
c.*1015T>G (n.*1015T>G)
c.3291T>G (p.Leu1097=)
c.2265T>G (p.Leu755=)
c.603T>G (p.Leu201=)
c.3072T>G (p.Leu1024=)
c.2997T>G (p.Leu999=)
4g.183289470T=CA1518546711WWC2c.3219T= (p.Leu1073=)
c.*2611T= (n.*2611T=)
c.*1015T= (n.*1015T=)
c.3291T= (p.Leu1097=)
c.2265T= (p.Leu755=)
c.603T= (p.Leu201=)
c.3072T= (p.Leu1024=)
c.2997T= (p.Leu999=)
4g.183289471C>ACA358845927WWC2c.3220C>A (p.Gln1074Lys)
c.*2612C>A (n.*2612C>A)
c.*1016C>A (n.*1016C>A)
c.3292C>A (p.Gln1098Lys)
c.2266C>A (p.Gln756Lys)
c.604C>A (p.Gln202Lys)
c.3073C>A (p.Gln1025Lys)
c.2998C>A (p.Gln1000Lys)
4g.183289471C=CA1518546712WWC2c.3220C= (p.Gln1074=)
c.*2612C= (n.*2612C=)
c.*1016C= (n.*1016C=)
c.3292C= (p.Gln1098=)
c.2266C= (p.Gln756=)
c.604C= (p.Gln202=)
c.3073C= (p.Gln1025=)
c.2998C= (p.Gln1000=)
4g.183289471C>GCA358845928WWC2c.3220C>G (p.Gln1074Glu)
c.*2612C>G (n.*2612C>G)
c.*1016C>G (n.*1016C>G)
c.3292C>G (p.Gln1098Glu)
c.2266C>G (p.Gln756Glu)
c.604C>G (p.Gln202Glu)
c.3073C>G (p.Gln1025Glu)
c.2998C>G (p.Gln1000Glu)
4g.183289471C>TCA358845930WWC2c.3220C>T (p.Gln1074Ter)
c.*2612C>T (n.*2612C>T)
c.*1016C>T (n.*1016C>T)
c.3292C>T (p.Gln1098Ter)
c.2266C>T (p.Gln756Ter)
c.604C>T (p.Gln202Ter)
c.3073C>T (p.Gln1025Ter)
c.2998C>T (p.Gln1000Ter)
dbSNP gnomAD v2 COSMIC COSMIC COSMIC
4g.183289472A=CA1518546714WWC2c.3221A= (p.Gln1074=)
c.*2613A= (n.*2613A=)
c.*1017A= (n.*1017A=)
c.3293A= (p.Gln1098=)
c.2267A= (p.Gln756=)
c.605A= (p.Gln202=)
c.3074A= (p.Gln1025=)
c.2999A= (p.Gln1000=)
4g.183289472A>CCA358845932WWC2c.3221A>C (p.Gln1074Pro)
c.*2613A>C (n.*2613A>C)
c.*1017A>C (n.*1017A>C)
c.3293A>C (p.Gln1098Pro)
c.2267A>C (p.Gln756Pro)
c.605A>C (p.Gln202Pro)
c.3074A>C (p.Gln1025Pro)
c.2999A>C (p.Gln1000Pro)
4g.183289472A>GCA358845934WWC2c.3221A>G (p.Gln1074Arg)
c.*2613A>G (n.*2613A>G)
c.*1017A>G (n.*1017A>G)
c.3293A>G (p.Gln1098Arg)
c.2267A>G (p.Gln756Arg)
c.605A>G (p.Gln202Arg)
c.3074A>G (p.Gln1025Arg)
c.2999A>G (p.Gln1000Arg)
dbSNP gnomAD v2 gnomAD v4
4g.183289472A>TCA358845935WWC2c.3221A>T (p.Gln1074Leu)
c.*2613A>T (n.*2613A>T)
c.*1017A>T (n.*1017A>T)
c.3293A>T (p.Gln1098Leu)
c.2267A>T (p.Gln756Leu)
c.605A>T (p.Gln202Leu)
c.3074A>T (p.Gln1025Leu)
c.2999A>T (p.Gln1000Leu)
4g.183289472_183289486delinsAGGCATCTCTGACCCCA1518546713WWC2c.3221_3235delinsAGGCATCTCTGACCC (p.Gln1074=)
c.*2613_*2627delinsAGGCATCTCTGACCC (n.*2613_*2627delinsAGGCATCTCTGACCC)
c.*1017_*1031delinsAGGCATCTCTGACCC (n.*1017_*1031delinsAGGCATCTCTGACCC)
c.3293_3307delinsAGGCATCTCTGACCC (p.Gln1098=)
c.2267_2281delinsAGGCATCTCTGACCC (p.Gln756=)
c.605_619delinsAGGCATCTCTGACCC (p.Gln202=)
c.3074_3088delinsAGGCATCTCTGACCC (p.Gln1025=)
c.2999_3013delinsAGGCATCTCTGACCC (p.Gln1000=)
4g.183289473G>ACA442557618WWC2c.3222G>A (p.Gln1074=)
c.*2614G>A (n.*2614G>A)
c.*1018G>A (n.*1018G>A)
c.3294G>A (p.Gln1098=)
c.2268G>A (p.Gln756=)
c.606G>A (p.Gln202=)
c.3075G>A (p.Gln1025=)
c.3000G>A (p.Gln1000=)
4g.183289473G>CCA358845937WWC2c.3222G>C (p.Gln1074His)
c.*2614G>C (n.*2614G>C)
c.*1018G>C (n.*1018G>C)
c.3294G>C (p.Gln1098His)
c.2268G>C (p.Gln756His)
c.606G>C (p.Gln202His)
c.3075G>C (p.Gln1025His)
c.3000G>C (p.Gln1000His)
4g.183289473G>TCA358845939WWC2c.3222G>T (p.Gln1074His)
c.*2614G>T (n.*2614G>T)
c.*1018G>T (n.*1018G>T)
c.3294G>T (p.Gln1098His)
c.2268G>T (p.Gln756His)
c.606G>T (p.Gln202His)
c.3075G>T (p.Gln1025His)
c.3000G>T (p.Gln1000His)
4g.183289477_183289490delCA557393627WWC2c.3226_3239del (p.Ser1076GlufsTer5)
c.*2618_*2631del (n.*2618_*2631del)
c.*1022_*1035del (n.*1022_*1035del)
c.3298_3311del (p.Ser1100GlufsTer5)
c.2272_2285del (p.Ser758GlufsTer5)
c.610_623del (p.Ser204GlufsTer5)
c.3079_3092del (p.Ser1027GlufsTer5)
c.3004_3017del (p.Ser1002GlufsTer5)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.183289474G>ACA358845943WWC2c.3223G>A (p.Ala1075Thr)
c.*2615G>A (n.*2615G>A)
c.*1019G>A (n.*1019G>A)
c.3295G>A (p.Ala1099Thr)
c.2269G>A (p.Ala757Thr)
c.607G>A (p.Ala203Thr)
c.3076G>A (p.Ala1026Thr)
c.3001G>A (p.Ala1001Thr)
4g.183289474G>CCA358845945WWC2c.3223G>C (p.Ala1075Pro)
c.*2615G>C (n.*2615G>C)
c.*1019G>C (n.*1019G>C)
c.3295G>C (p.Ala1099Pro)
c.2269G>C (p.Ala757Pro)
c.607G>C (p.Ala203Pro)
c.3076G>C (p.Ala1026Pro)
c.3001G>C (p.Ala1001Pro)
gnomAD v4
4g.183289474G>TCA358845941WWC2c.3223G>T (p.Ala1075Ser)
c.*2615G>T (n.*2615G>T)
c.*1019G>T (n.*1019G>T)
c.3295G>T (p.Ala1099Ser)
c.2269G>T (p.Ala757Ser)
c.607G>T (p.Ala203Ser)
c.3076G>T (p.Ala1026Ser)
c.3001G>T (p.Ala1001Ser)
gnomAD v4
4g.183289475C>ACA358845947WWC2c.3224C>A (p.Ala1075Glu)
c.*2616C>A (n.*2616C>A)
c.*1020C>A (n.*1020C>A)
c.3296C>A (p.Ala1099Glu)
c.2270C>A (p.Ala757Glu)
c.608C>A (p.Ala203Glu)
c.3077C>A (p.Ala1026Glu)
c.3002C>A (p.Ala1001Glu)
4g.183289475C>GCA358845948WWC2c.3224C>G (p.Ala1075Gly)
c.*2616C>G (n.*2616C>G)
c.*1020C>G (n.*1020C>G)
c.3296C>G (p.Ala1099Gly)
c.2270C>G (p.Ala757Gly)
c.608C>G (p.Ala203Gly)
c.3077C>G (p.Ala1026Gly)
c.3002C>G (p.Ala1001Gly)
4g.183289475C>TCA358845950WWC2c.3224C>T (p.Ala1075Val)
c.*2616C>T (n.*2616C>T)
c.*1020C>T (n.*1020C>T)
c.3296C>T (p.Ala1099Val)
c.2270C>T (p.Ala757Val)
c.608C>T (p.Ala203Val)
c.3077C>T (p.Ala1026Val)
c.3002C>T (p.Ala1001Val)
gnomAD v4
4g.183289476A>CCA442557619WWC2c.3225A>C (p.Ala1075=)
c.*2617A>C (n.*2617A>C)
c.*1021A>C (n.*1021A>C)
c.3297A>C (p.Ala1099=)
c.2271A>C (p.Ala757=)
c.609A>C (p.Ala203=)
c.3078A>C (p.Ala1026=)
c.3003A>C (p.Ala1001=)
4g.183289476A>GCA442557621WWC2c.3225A>G (p.Ala1075=)
c.*2617A>G (n.*2617A>G)
c.*1021A>G (n.*1021A>G)
c.3297A>G (p.Ala1099=)
c.2271A>G (p.Ala757=)
c.609A>G (p.Ala203=)
c.3078A>G (p.Ala1026=)
c.3003A>G (p.Ala1001=)
4g.183289476A>TCA442557620WWC2c.3225A>T (p.Ala1075=)
c.*2617A>T (n.*2617A>T)
c.*1021A>T (n.*1021A>T)
c.3297A>T (p.Ala1099=)
c.2271A>T (p.Ala757=)
c.609A>T (p.Ala203=)
c.3078A>T (p.Ala1026=)
c.3003A>T (p.Ala1001=)
4g.183289477T>ACA358845952WWC2c.3226T>A (p.Ser1076Thr)
c.*2618T>A (n.*2618T>A)
c.*1022T>A (n.*1022T>A)
c.3298T>A (p.Ser1100Thr)
c.2272T>A (p.Ser758Thr)
c.610T>A (p.Ser204Thr)
c.3079T>A (p.Ser1027Thr)
c.3004T>A (p.Ser1002Thr)
4g.183289477T>CCA358845954WWC2c.3226T>C (p.Ser1076Pro)
c.*2618T>C (n.*2618T>C)
c.*1022T>C (n.*1022T>C)
c.3298T>C (p.Ser1100Pro)
c.2272T>C (p.Ser758Pro)
c.610T>C (p.Ser204Pro)
c.3079T>C (p.Ser1027Pro)
c.3004T>C (p.Ser1002Pro)
4g.183289477T>GCA358845956WWC2c.3226T>G (p.Ser1076Ala)
c.*2618T>G (n.*2618T>G)
c.*1022T>G (n.*1022T>G)
c.3298T>G (p.Ser1100Ala)
c.2272T>G (p.Ser758Ala)
c.610T>G (p.Ser204Ala)
c.3079T>G (p.Ser1027Ala)
c.3004T>G (p.Ser1002Ala)
4g.183289478C>ACA358845961WWC2c.3227C>A (p.Ser1076Tyr)
c.*2619C>A (n.*2619C>A)
c.*1023C>A (n.*1023C>A)
c.3299C>A (p.Ser1100Tyr)
c.2273C>A (p.Ser758Tyr)
c.611C>A (p.Ser204Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3005C>A (p.Ser1002Tyr)
4g.183289478C>GCA358845958WWC2c.3227C>G (p.Ser1076Cys)
c.*2619C>G (n.*2619C>G)
c.*1023C>G (n.*1023C>G)
c.3299C>G (p.Ser1100Cys)
c.2273C>G (p.Ser758Cys)
c.611C>G (p.Ser204Cys)
c.3080C>G (p.Ser1027Cys)
c.3005C>G (p.Ser1002Cys)
4g.183289478C>TCA358845960WWC2c.3227C>T (p.Ser1076Phe)
c.*2619C>T (n.*2619C>T)
c.*1023C>T (n.*1023C>T)
c.3299C>T (p.Ser1100Phe)
c.2273C>T (p.Ser758Phe)
c.611C>T (p.Ser204Phe)
c.3080C>T (p.Ser1027Phe)
c.3005C>T (p.Ser1002Phe)
4g.183289479T>ACA442557622WWC2c.3228T>A (p.Ser1076=)
c.*2620T>A (n.*2620T>A)
c.*1024T>A (n.*1024T>A)
c.3300T>A (p.Ser1100=)
c.2274T>A (p.Ser758=)
c.612T>A (p.Ser204=)
c.3081T>A (p.Ser1027=)
c.3006T>A (p.Ser1002=)
4g.183289479T>CCA442557623WWC2c.3228T>C (p.Ser1076=)
c.*2620T>C (n.*2620T>C)
c.*1024T>C (n.*1024T>C)
c.3300T>C (p.Ser1100=)
c.2274T>C (p.Ser758=)
c.612T>C (p.Ser204=)
c.3081T>C (p.Ser1027=)
c.3006T>C (p.Ser1002=)
dbSNP
4g.183289479T>GCA442557624WWC2c.3228T>G (p.Ser1076=)
c.*2620T>G (n.*2620T>G)
c.*1024T>G (n.*1024T>G)
c.3300T>G (p.Ser1100=)
c.2274T>G (p.Ser758=)
c.612T>G (p.Ser204=)
c.3081T>G (p.Ser1027=)
c.3006T>G (p.Ser1002=)
4g.183289479T=CA1518546715WWC2c.3228T= (p.Ser1076=)
c.*2620T= (n.*2620T=)
c.*1024T= (n.*1024T=)
c.3300T= (p.Ser1100=)
c.2274T= (p.Ser758=)
c.612T= (p.Ser204=)
c.3081T= (p.Ser1027=)
c.3006T= (p.Ser1002=)
4g.183289480C>ACA358845963WWC2c.3229C>A (p.Leu1077Met)
c.*2621C>A (n.*2621C>A)
c.*1025C>A (n.*1025C>A)
c.3301C>A (p.Leu1101Met)
c.2275C>A (p.Leu759Met)
c.613C>A (p.Leu205Met)
c.3082C>A (p.Leu1028Met)
c.3007C>A (p.Leu1003Met)
4g.183289480C>GCA358845965WWC2c.3229C>G (p.Leu1077Val)
c.*2621C>G (n.*2621C>G)
c.*1025C>G (n.*1025C>G)
c.3301C>G (p.Leu1101Val)
c.2275C>G (p.Leu759Val)
c.613C>G (p.Leu205Val)
c.3082C>G (p.Leu1028Val)
c.3007C>G (p.Leu1003Val)
4g.183289480C>TCA442557625WWC2c.3229C>T (p.Leu1077=)
c.*2621C>T (n.*2621C>T)
c.*1025C>T (n.*1025C>T)
c.3301C>T (p.Leu1101=)
c.2275C>T (p.Leu759=)
c.613C>T (p.Leu205=)
c.3082C>T (p.Leu1028=)
c.3007C>T (p.Leu1003=)
4g.183289481T>ACA358845967WWC2c.3230T>A (p.Leu1077Gln)
c.*2622T>A (n.*2622T>A)
c.*1026T>A (n.*1026T>A)
c.3302T>A (p.Leu1101Gln)
c.2276T>A (p.Leu759Gln)
c.614T>A (p.Leu205Gln)
c.3083T>A (p.Leu1028Gln)
c.3008T>A (p.Leu1003Gln)
4g.183289481T>CCA358845969WWC2c.3230T>C (p.Leu1077Pro)
c.*2622T>C (n.*2622T>C)
c.*1026T>C (n.*1026T>C)
c.3302T>C (p.Leu1101Pro)
c.2276T>C (p.Leu759Pro)
c.614T>C (p.Leu205Pro)
c.3083T>C (p.Leu1028Pro)
c.3008T>C (p.Leu1003Pro)
4g.183289481T>GCA358845971WWC2c.3230T>G (p.Leu1077Arg)
c.*2622T>G (n.*2622T>G)
c.*1026T>G (n.*1026T>G)
c.3302T>G (p.Leu1101Arg)
c.2276T>G (p.Leu759Arg)
c.614T>G (p.Leu205Arg)
c.3083T>G (p.Leu1028Arg)
c.3008T>G (p.Leu1003Arg)
4g.183289482G>ACA442557626WWC2c.3231G>A (p.Leu1077=)
c.*2623G>A (n.*2623G>A)
c.*1027G>A (n.*1027G>A)
c.3303G>A (p.Leu1101=)
c.2277G>A (p.Leu759=)
c.615G>A (p.Leu205=)
c.3084G>A (p.Leu1028=)
c.3009G>A (p.Leu1003=)
dbSNP gnomAD v2 gnomAD v4
4g.183289482G>CCA442557627WWC2c.3231G>C (p.Leu1077=)
c.*2623G>C (n.*2623G>C)
c.*1027G>C (n.*1027G>C)
c.3303G>C (p.Leu1101=)
c.2277G>C (p.Leu759=)
c.615G>C (p.Leu205=)
c.3084G>C (p.Leu1028=)
c.3009G>C (p.Leu1003=)
4g.183289482G=CA1518546716WWC2c.3231G= (p.Leu1077=)
c.*2623G= (n.*2623G=)
c.*1027G= (n.*1027G=)
c.3303G= (p.Leu1101=)
c.2277G= (p.Leu759=)
c.615G= (p.Leu205=)
c.3084G= (p.Leu1028=)
c.3009G= (p.Leu1003=)
4g.183289482G>TCA442557628WWC2c.3231G>T (p.Leu1077=)
c.*2623G>T (n.*2623G>T)
c.*1027G>T (n.*1027G>T)
c.3303G>T (p.Leu1101=)
c.2277G>T (p.Leu759=)
c.615G>T (p.Leu205=)
c.3084G>T (p.Leu1028=)
c.3009G>T (p.Leu1003=)
4g.183289483A=CA1518546717WWC2c.3232A= (p.Thr1078=)
c.*2624A= (n.*2624A=)
c.*1028A= (n.*1028A=)
c.3304A= (p.Thr1102=)
c.2278A= (p.Thr760=)
c.616A= (p.Thr206=)
c.3085A= (p.Thr1029=)
c.3010A= (p.Thr1004=)
4g.183289483A>CCA358845973WWC2c.3232A>C (p.Thr1078Pro)
c.*2624A>C (n.*2624A>C)
c.*1028A>C (n.*1028A>C)
c.3304A>C (p.Thr1102Pro)
c.2278A>C (p.Thr760Pro)
c.616A>C (p.Thr206Pro)
c.3085A>C (p.Thr1029Pro)
c.3010A>C (p.Thr1004Pro)
dbSNP
4g.183289483A>GCA358845977WWC2c.3232A>G (p.Thr1078Ala)
c.*2624A>G (n.*2624A>G)
c.*1028A>G (n.*1028A>G)
c.3304A>G (p.Thr1102Ala)
c.2278A>G (p.Thr760Ala)
c.616A>G (p.Thr206Ala)
c.3085A>G (p.Thr1029Ala)
c.3010A>G (p.Thr1004Ala)
4g.183289483A>TCA358845975WWC2c.3232A>T (p.Thr1078Ser)
c.*2624A>T (n.*2624A>T)
c.*1028A>T (n.*1028A>T)
c.3304A>T (p.Thr1102Ser)
c.2278A>T (p.Thr760Ser)
c.616A>T (p.Thr206Ser)
c.3085A>T (p.Thr1029Ser)
c.3010A>T (p.Thr1004Ser)
4g.183289484C>ACA358845979WWC2c.3233C>A (p.Thr1078Asn)
c.*2625C>A (n.*2625C>A)
c.*1029C>A (n.*1029C>A)
c.3305C>A (p.Thr1102Asn)
c.2279C>A (p.Thr760Asn)
c.617C>A (p.Thr206Asn)
c.3086C>A (p.Thr1029Asn)
c.3011C>A (p.Thr1004Asn)
4g.183289484C>GCA358845980WWC2c.3233C>G (p.Thr1078Ser)
c.*2625C>G (n.*2625C>G)
c.*1029C>G (n.*1029C>G)
c.3305C>G (p.Thr1102Ser)
c.2279C>G (p.Thr760Ser)
c.617C>G (p.Thr206Ser)
c.3086C>G (p.Thr1029Ser)
c.3011C>G (p.Thr1004Ser)
gnomAD v4
4g.183289484C>TCA358845981WWC2c.3233C>T (p.Thr1078Ile)
c.*2625C>T (n.*2625C>T)
c.*1029C>T (n.*1029C>T)
c.3305C>T (p.Thr1102Ile)
c.2279C>T (p.Thr760Ile)
c.617C>T (p.Thr206Ile)
c.3086C>T (p.Thr1029Ile)
c.3011C>T (p.Thr1004Ile)
4g.183289485C>ACA442557630WWC2c.3234C>A (p.Thr1078=)
c.*2626C>A (n.*2626C>A)
c.*1030C>A (n.*1030C>A)
c.3306C>A (p.Thr1102=)
c.2280C>A (p.Thr760=)
c.618C>A (p.Thr206=)
c.3087C>A (p.Thr1029=)
c.3012C>A (p.Thr1004=)
4g.183289485C>GCA442557631WWC2c.3234C>G (p.Thr1078=)
c.*2626C>G (n.*2626C>G)
c.*1030C>G (n.*1030C>G)
c.3306C>G (p.Thr1102=)
c.2280C>G (p.Thr760=)
c.618C>G (p.Thr206=)
c.3087C>G (p.Thr1029=)
c.3012C>G (p.Thr1004=)
4g.183289485C>TCA442557632WWC2c.3234C>T (p.Thr1078=)
c.*2626C>T (n.*2626C>T)
c.*1030C>T (n.*1030C>T)
c.3306C>T (p.Thr1102=)
c.2280C>T (p.Thr760=)
c.618C>T (p.Thr206=)
c.3087C>T (p.Thr1029=)
c.3012C>T (p.Thr1004=)
4g.183289486C>ACA442557633WWC2c.3235C>A (p.Arg1079=)
c.*2627C>A (n.*2627C>A)
c.*1031C>A (n.*1031C>A)
c.3307C>A (p.Arg1103=)
c.2281C>A (p.Arg761=)
c.619C>A (p.Arg207=)
c.3088C>A (p.Arg1030=)
c.3013C>A (p.Arg1005=)
gnomAD v4
4g.183289486C=CA1518546718WWC2c.3235C= (p.Arg1079=)
c.*2627C= (n.*2627C=)
c.*1031C= (n.*1031C=)
c.3307C= (p.Arg1103=)
c.2281C= (p.Arg761=)
c.619C= (p.Arg207=)
c.3088C= (p.Arg1030=)
c.3013C= (p.Arg1005=)
4g.183289486C>GCA358845983WWC2c.3235C>G (p.Arg1079Gly)
c.*2627C>G (n.*2627C>G)
c.*1031C>G (n.*1031C>G)
c.3307C>G (p.Arg1103Gly)
c.2281C>G (p.Arg761Gly)
c.619C>G (p.Arg207Gly)
c.3088C>G (p.Arg1030Gly)
c.3013C>G (p.Arg1005Gly)
4g.183289486C>TCA3150303WWC2c.3235C>T (p.Arg1079Trp)
c.*2627C>T (n.*2627C>T)
c.*1031C>T (n.*1031C>T)
c.3307C>T (p.Arg1103Trp)
c.2281C>T (p.Arg761Trp)
c.619C>T (p.Arg207Trp)
c.3088C>T (p.Arg1030Trp)
c.3013C>T (p.Arg1005Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289487G>ACA111773424WWC2c.3236G>A (p.Arg1079Gln)
c.*2628G>A (n.*2628G>A)
c.*1032G>A (n.*1032G>A)
c.3308G>A (p.Arg1103Gln)
c.2282G>A (p.Arg761Gln)
c.620G>A (p.Arg207Gln)
c.3089G>A (p.Arg1030Gln)
c.3014G>A (p.Arg1005Gln)
dbSNP gnomAD v4
4g.183289487G>CCA358845987WWC2c.3236G>C (p.Arg1079Pro)
c.*2628G>C (n.*2628G>C)
c.*1032G>C (n.*1032G>C)
c.3308G>C (p.Arg1103Pro)
c.2282G>C (p.Arg761Pro)
c.620G>C (p.Arg207Pro)
c.3089G>C (p.Arg1030Pro)
c.3014G>C (p.Arg1005Pro)
4g.183289487G=CA1518546719WWC2c.3236G= (p.Arg1079=)
c.*2628G= (n.*2628G=)
c.*1032G= (n.*1032G=)
c.3308G= (p.Arg1103=)
c.2282G= (p.Arg761=)
c.620G= (p.Arg207=)
c.3089G= (p.Arg1030=)
c.3014G= (p.Arg1005=)
4g.183289487G>TCA358845989WWC2c.3236G>T (p.Arg1079Leu)
c.*2628G>T (n.*2628G>T)
c.*1032G>T (n.*1032G>T)
c.3308G>T (p.Arg1103Leu)
c.2282G>T (p.Arg761Leu)
c.620G>T (p.Arg207Leu)
c.3089G>T (p.Arg1030Leu)
c.3014G>T (p.Arg1005Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.183289488G>ACA442557634WWC2c.3237G>A (p.Arg1079=)
c.*2629G>A (n.*2629G>A)
c.*1033G>A (n.*1033G>A)
c.3309G>A (p.Arg1103=)
c.2283G>A (p.Arg761=)
c.621G>A (p.Arg207=)
c.3090G>A (p.Arg1030=)
c.3015G>A (p.Arg1005=)
4g.183289488G>CCA442557635WWC2c.3237G>C (p.Arg1079=)
c.*2629G>C (n.*2629G>C)
c.*1033G>C (n.*1033G>C)
c.3309G>C (p.Arg1103=)
c.2283G>C (p.Arg761=)
c.621G>C (p.Arg207=)
c.3090G>C (p.Arg1030=)
c.3015G>C (p.Arg1005=)
4g.183289488G>TCA442557636WWC2c.3237G>T (p.Arg1079=)
c.*2629G>T (n.*2629G>T)
c.*1033G>T (n.*1033G>T)
c.3309G>T (p.Arg1103=)
c.2283G>T (p.Arg761=)
c.621G>T (p.Arg207=)
c.3090G>T (p.Arg1030=)
c.3015G>T (p.Arg1005=)
4g.183289489C>ACA358845991WWC2c.3238C>A (p.Gln1080Lys)
c.*2630C>A (n.*2630C>A)
c.*1034C>A (n.*1034C>A)
c.3310C>A (p.Gln1104Lys)
c.2284C>A (p.Gln762Lys)
c.622C>A (p.Gln208Lys)
c.3091C>A (p.Gln1031Lys)
c.3016C>A (p.Gln1006Lys)
dbSNP gnomAD v2 gnomAD v4
4g.183289489C=CA1518546720WWC2c.3238C= (p.Gln1080=)
c.*2630C= (n.*2630C=)
c.*1034C= (n.*1034C=)
c.3310C= (p.Gln1104=)
c.2284C= (p.Gln762=)
c.622C= (p.Gln208=)
c.3091C= (p.Gln1031=)
c.3016C= (p.Gln1006=)
4g.183289489C>GCA358845993WWC2c.3238C>G (p.Gln1080Glu)
c.*2630C>G (n.*2630C>G)
c.*1034C>G (n.*1034C>G)
c.3310C>G (p.Gln1104Glu)
c.2284C>G (p.Gln762Glu)
c.622C>G (p.Gln208Glu)
c.3091C>G (p.Gln1031Glu)
c.3016C>G (p.Gln1006Glu)
4g.183289489C>TCA358845995WWC2c.3238C>T (p.Gln1080Ter)
c.*2630C>T (n.*2630C>T)
c.*1034C>T (n.*1034C>T)
c.3310C>T (p.Gln1104Ter)
c.2284C>T (p.Gln762Ter)
c.622C>T (p.Gln208Ter)
c.3091C>T (p.Gln1031Ter)
c.3016C>T (p.Gln1006Ter)
dbSNP gnomAD v3 gnomAD v4
4g.183289490A>CCA358846001WWC2c.3239A>C (p.Gln1080Pro)
c.*2631A>C (n.*2631A>C)
c.*1035A>C (n.*1035A>C)
c.3311A>C (p.Gln1104Pro)
c.2285A>C (p.Gln762Pro)
c.623A>C (p.Gln208Pro)
c.3092A>C (p.Gln1031Pro)
c.3017A>C (p.Gln1006Pro)
4g.183289490A>GCA358845999WWC2c.3239A>G (p.Gln1080Arg)
c.*2631A>G (n.*2631A>G)
c.*1035A>G (n.*1035A>G)
c.3311A>G (p.Gln1104Arg)
c.2285A>G (p.Gln762Arg)
c.623A>G (p.Gln208Arg)
c.3092A>G (p.Gln1031Arg)
c.3017A>G (p.Gln1006Arg)
4g.183289490A>TCA358845997WWC2c.3239A>T (p.Gln1080Leu)
c.*2631A>T (n.*2631A>T)
c.*1035A>T (n.*1035A>T)
c.3311A>T (p.Gln1104Leu)
c.2285A>T (p.Gln762Leu)
c.623A>T (p.Gln208Leu)
c.3092A>T (p.Gln1031Leu)
c.3017A>T (p.Gln1006Leu)
4g.183289491G>ACA3150304WWC2c.3240G>A (p.Gln1080=)
c.*2632G>A (n.*2632G>A)
c.*1036G>A (n.*1036G>A)
c.3312G>A (p.Gln1104=)
c.2286G>A (p.Gln762=)
c.624G>A (p.Gln208=)
c.3093G>A (p.Gln1031=)
c.3018G>A (p.Gln1006=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.183289491G>CCA358846005WWC2c.3240G>C (p.Gln1080His)
c.*2632G>C (n.*2632G>C)
c.*1036G>C (n.*1036G>C)
c.3312G>C (p.Gln1104His)
c.2286G>C (p.Gln762His)
c.624G>C (p.Gln208His)
c.3093G>C (p.Gln1031His)
c.3018G>C (p.Gln1006His)
4g.183289491G=CA1518546721WWC2c.3240G= (p.Gln1080=)
c.*2632G= (n.*2632G=)
c.*1036G= (n.*1036G=)
c.3312G= (p.Gln1104=)
c.2286G= (p.Gln762=)
c.624G= (p.Gln208=)
c.3093G= (p.Gln1031=)
c.3018G= (p.Gln1006=)
4g.183289491G>TCA358846006WWC2c.3240G>T (p.Gln1080His)
c.*2632G>T (n.*2632G>T)
c.*1036G>T (n.*1036G>T)
c.3312G>T (p.Gln1104His)
c.2286G>T (p.Gln762His)
c.624G>T (p.Gln208His)
c.3093G>T (p.Gln1031His)
c.3018G>T (p.Gln1006His)
4g.183289492A=CA1518546722WWC2c.3241A= (p.Ser1081=)
c.*2633A= (n.*2633A=)
c.*1037A= (n.*1037A=)
c.3313A= (p.Ser1105=)
c.2287A= (p.Ser763=)
c.625A= (p.Ser209=)
c.3094A= (p.Ser1032=)
c.3019A= (p.Ser1007=)
4g.183289492A>CCA358846009WWC2c.3241A>C (p.Ser1081Arg)
c.*2633A>C (n.*2633A>C)
c.*1037A>C (n.*1037A>C)
c.3313A>C (p.Ser1105Arg)
c.2287A>C (p.Ser763Arg)
c.625A>C (p.Ser209Arg)
c.3094A>C (p.Ser1032Arg)
c.3019A>C (p.Ser1007Arg)
4g.183289492A>GCA3150305WWC2c.3241A>G (p.Ser1081Gly)
c.*2633A>G (n.*2633A>G)
c.*1037A>G (n.*1037A>G)
c.3313A>G (p.Ser1105Gly)
c.2287A>G (p.Ser763Gly)
c.625A>G (p.Ser209Gly)
c.3094A>G (p.Ser1032Gly)
c.3019A>G (p.Ser1007Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289492A>TCA358846012WWC2c.3241A>T (p.Ser1081Cys)
c.*2633A>T (n.*2633A>T)
c.*1037A>T (n.*1037A>T)
c.3313A>T (p.Ser1105Cys)
c.2287A>T (p.Ser763Cys)
c.625A>T (p.Ser209Cys)
c.3094A>T (p.Ser1032Cys)
c.3019A>T (p.Ser1007Cys)
4g.183289493G>ACA358846018WWC2c.3242G>A (p.Ser1081Asn)
c.*2634G>A (n.*2634G>A)
c.*1038G>A (n.*1038G>A)
c.3314G>A (p.Ser1105Asn)
c.2288G>A (p.Ser763Asn)
c.626G>A (p.Ser209Asn)
c.3095G>A (p.Ser1032Asn)
c.3020G>A (p.Ser1007Asn)
gnomAD v4
4g.183289493G>CCA358846014WWC2c.3242G>C (p.Ser1081Thr)
c.*2634G>C (n.*2634G>C)
c.*1038G>C (n.*1038G>C)
c.3314G>C (p.Ser1105Thr)
c.2288G>C (p.Ser763Thr)
c.626G>C (p.Ser209Thr)
c.3095G>C (p.Ser1032Thr)
c.3020G>C (p.Ser1007Thr)
gnomAD v4
4g.183289493G>TCA358846015WWC2c.3242G>T (p.Ser1081Ile)
c.*2634G>T (n.*2634G>T)
c.*1038G>T (n.*1038G>T)
c.3314G>T (p.Ser1105Ile)
c.2288G>T (p.Ser763Ile)
c.626G>T (p.Ser209Ile)
c.3095G>T (p.Ser1032Ile)
c.3020G>T (p.Ser1007Ile)
gnomAD v4
4g.183289494C>ACA3150306WWC2c.3243C>A (p.Ser1081Arg)
c.*2635C>A (n.*2635C>A)
c.*1039C>A (n.*1039C>A)
c.3315C>A (p.Ser1105Arg)
c.2289C>A (p.Ser763Arg)
c.627C>A (p.Ser209Arg)
c.3096C>A (p.Ser1032Arg)
c.3021C>A (p.Ser1007Arg)
dbSNP ExAC gnomAD v2
4g.183289494C=CA1518546723WWC2c.3243C= (p.Ser1081=)
c.*2635C= (n.*2635C=)
c.*1039C= (n.*1039C=)
c.3315C= (p.Ser1105=)
c.2289C= (p.Ser763=)
c.627C= (p.Ser209=)
c.3096C= (p.Ser1032=)
c.3021C= (p.Ser1007=)
4g.183289494C>GCA358846020WWC2c.3243C>G (p.Ser1081Arg)
c.*2635C>G (n.*2635C>G)
c.*1039C>G (n.*1039C>G)
c.3315C>G (p.Ser1105Arg)
c.2289C>G (p.Ser763Arg)
c.627C>G (p.Ser209Arg)
c.3096C>G (p.Ser1032Arg)
c.3021C>G (p.Ser1007Arg)
4g.183289494C>TCA442557637WWC2c.3243C>T (p.Ser1081=)
c.*2635C>T (n.*2635C>T)
c.*1039C>T (n.*1039C>T)
c.3315C>T (p.Ser1105=)
c.2289C>T (p.Ser763=)
c.627C>T (p.Ser209=)
c.3096C>T (p.Ser1032=)
c.3021C>T (p.Ser1007=)
4g.183289495C>ACA358846022WWC2c.3244C>A (p.Arg1082Ser)
c.*2636C>A (n.*2636C>A)
c.*1040C>A (n.*1040C>A)
c.3316C>A (p.Arg1106Ser)
c.2290C>A (p.Arg764Ser)
c.628C>A (p.Arg210Ser)
c.3097C>A (p.Arg1033Ser)
c.3022C>A (p.Arg1008Ser)
4g.183289495C=CA1518546724WWC2c.3244C= (p.Arg1082=)
c.*2636C= (n.*2636C=)
c.*1040C= (n.*1040C=)
c.3316C= (p.Arg1106=)
c.2290C= (p.Arg764=)
c.628C= (p.Arg210=)
c.3097C= (p.Arg1033=)
c.3022C= (p.Arg1008=)
4g.183289495C>GCA358846024WWC2c.3244C>G (p.Arg1082Gly)
c.*2636C>G (n.*2636C>G)
c.*1040C>G (n.*1040C>G)
c.3316C>G (p.Arg1106Gly)
c.2290C>G (p.Arg764Gly)
c.628C>G (p.Arg210Gly)
c.3097C>G (p.Arg1033Gly)
c.3022C>G (p.Arg1008Gly)
4g.183289495C>TCA3150307WWC2c.3244C>T (p.Arg1082Cys)
c.*2636C>T (n.*2636C>T)
c.*1040C>T (n.*1040C>T)
c.3316C>T (p.Arg1106Cys)
c.2290C>T (p.Arg764Cys)
c.628C>T (p.Arg210Cys)
c.3097C>T (p.Arg1033Cys)
c.3022C>T (p.Arg1008Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289496G>ACA3150309WWC2c.3245G>A (p.Arg1082His)
c.*2637G>A (n.*2637G>A)
c.*1041G>A (n.*1041G>A)
c.3317G>A (p.Arg1106His)
c.2291G>A (p.Arg764His)
c.629G>A (p.Arg210His)
c.3098G>A (p.Arg1033His)
c.3023G>A (p.Arg1008His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289496G>CCA358846028WWC2c.3245G>C (p.Arg1082Pro)
c.*2637G>C (n.*2637G>C)
c.*1041G>C (n.*1041G>C)
c.3317G>C (p.Arg1106Pro)
c.2291G>C (p.Arg764Pro)
c.629G>C (p.Arg210Pro)
c.3098G>C (p.Arg1033Pro)
c.3023G>C (p.Arg1008Pro)
gnomAD v4
4g.183289496G=CA1518546725WWC2c.3245G= (p.Arg1082=)
c.*2637G= (n.*2637G=)
c.*1041G= (n.*1041G=)
c.3317G= (p.Arg1106=)
c.2291G= (p.Arg764=)
c.629G= (p.Arg210=)
c.3098G= (p.Arg1033=)
c.3023G= (p.Arg1008=)
4g.183289496G>TCA3150308WWC2c.3245G>T (p.Arg1082Leu)
c.*2637G>T (n.*2637G>T)
c.*1041G>T (n.*1041G>T)
c.3317G>T (p.Arg1106Leu)
c.2291G>T (p.Arg764Leu)
c.629G>T (p.Arg210Leu)
c.3098G>T (p.Arg1033Leu)
c.3023G>T (p.Arg1008Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289497C>ACA442557638WWC2c.3246C>A (p.Arg1082=)
c.*2638C>A (n.*2638C>A)
c.*1042C>A (n.*1042C>A)
c.3318C>A (p.Arg1106=)
c.2292C>A (p.Arg764=)
c.630C>A (p.Arg210=)
c.3099C>A (p.Arg1033=)
c.3024C>A (p.Arg1008=)
4g.183289497C>GCA442557639WWC2c.3246C>G (p.Arg1082=)
c.*2638C>G (n.*2638C>G)
c.*1042C>G (n.*1042C>G)
c.3318C>G (p.Arg1106=)
c.2292C>G (p.Arg764=)
c.630C>G (p.Arg210=)
c.3099C>G (p.Arg1033=)
c.3024C>G (p.Arg1008=)
4g.183289497C>TCA442557640WWC2c.3246C>T (p.Arg1082=)
c.*2638C>T (n.*2638C>T)
c.*1042C>T (n.*1042C>T)
c.3318C>T (p.Arg1106=)
c.2292C>T (p.Arg764=)
c.630C>T (p.Arg210=)
c.3099C>T (p.Arg1033=)
c.3024C>T (p.Arg1008=)
4g.183289498C>ACA358846032WWC2c.3247C>A (p.Leu1083Ile)
c.*2639C>A (n.*2639C>A)
c.*1043C>A (n.*1043C>A)
c.3319C>A (p.Leu1107Ile)
c.2293C>A (p.Leu765Ile)
c.631C>A (p.Leu211Ile)
c.3100C>A (p.Leu1034Ile)
c.3025C>A (p.Leu1009Ile)
4g.183289498C=CA1518546726WWC2c.3247C= (p.Leu1083=)
c.*2639C= (n.*2639C=)
c.*1043C= (n.*1043C=)
c.3319C= (p.Leu1107=)
c.2293C= (p.Leu765=)
c.631C= (p.Leu211=)
c.3100C= (p.Leu1034=)
c.3025C= (p.Leu1009=)
4g.183289498C>GCA3150310WWC2c.3247C>G (p.Leu1083Val)
c.*2639C>G (n.*2639C>G)
c.*1043C>G (n.*1043C>G)
c.3319C>G (p.Leu1107Val)
c.2293C>G (p.Leu765Val)
c.631C>G (p.Leu211Val)
c.3100C>G (p.Leu1034Val)
c.3025C>G (p.Leu1009Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289498C>TCA358846034WWC2c.3247C>T (p.Leu1083Phe)
c.*2639C>T (n.*2639C>T)
c.*1043C>T (n.*1043C>T)
c.3319C>T (p.Leu1107Phe)
c.2293C>T (p.Leu765Phe)
c.631C>T (p.Leu211Phe)
c.3100C>T (p.Leu1034Phe)
c.3025C>T (p.Leu1009Phe)
4g.183289499T>ACA358846036WWC2c.3248T>A (p.Leu1083His)
c.*2640T>A (n.*2640T>A)
c.*1044T>A (n.*1044T>A)
c.3320T>A (p.Leu1107His)
c.2294T>A (p.Leu765His)
c.632T>A (p.Leu211His)
c.3101T>A (p.Leu1034His)
c.3026T>A (p.Leu1009His)
4g.183289499T>CCA358846038WWC2c.3248T>C (p.Leu1083Pro)
c.*2640T>C (n.*2640T>C)
c.*1044T>C (n.*1044T>C)
c.3320T>C (p.Leu1107Pro)
c.2294T>C (p.Leu765Pro)
c.632T>C (p.Leu211Pro)
c.3101T>C (p.Leu1034Pro)
c.3026T>C (p.Leu1009Pro)
4g.183289499T>GCA358846040WWC2c.3248T>G (p.Leu1083Arg)
c.*2640T>G (n.*2640T>G)
c.*1044T>G (n.*1044T>G)
c.3320T>G (p.Leu1107Arg)
c.2294T>G (p.Leu765Arg)
c.632T>G (p.Leu211Arg)
c.3101T>G (p.Leu1034Arg)
c.3026T>G (p.Leu1009Arg)
4g.183289500C>ACA442557641WWC2c.3249C>A (p.Leu1083=)
c.*2641C>A (n.*2641C>A)
c.*1045C>A (n.*1045C>A)
c.3321C>A (p.Leu1107=)
c.2295C>A (p.Leu765=)
c.633C>A (p.Leu211=)
c.3102C>A (p.Leu1034=)
c.3027C>A (p.Leu1009=)
4g.183289500C>GCA442557642WWC2c.3249C>G (p.Leu1083=)
c.*2641C>G (n.*2641C>G)
c.*1045C>G (n.*1045C>G)
c.3321C>G (p.Leu1107=)
c.2295C>G (p.Leu765=)
c.633C>G (p.Leu211=)
c.3102C>G (p.Leu1034=)
c.3027C>G (p.Leu1009=)
4g.183289500C>TCA442557643WWC2c.3249C>T (p.Leu1083=)
c.*2641C>T (n.*2641C>T)
c.*1045C>T (n.*1045C>T)
c.3321C>T (p.Leu1107=)
c.2295C>T (p.Leu765=)
c.633C>T (p.Leu211=)
c.3102C>T (p.Leu1034=)
c.3027C>T (p.Leu1009=)
4g.183289500_183289503delinsCAATCA1518546727WWC2c.3249_3252delinsCAAT (p.Leu1083=)
c.*2641_*2644delinsCAAT (n.*2641_*2644delinsCAAT)
c.*1045_*1048delinsCAAT (n.*1045_*1048delinsCAAT)
c.3321_3324delinsCAAT (p.Leu1107=)
c.2295_2298delinsCAAT (p.Leu765=)
c.633_636delinsCAAT (p.Leu211=)
c.3102_3105delinsCAAT (p.Leu1034=)
c.3027_3030delinsCAAT (p.Leu1009=)
4g.183289501A=CA1518546728WWC2c.3250A= (p.Asn1084=)
c.*2642A= (n.*2642A=)
c.*1046A= (n.*1046A=)
c.3322A= (p.Asn1108=)
c.2296A= (p.Asn766=)
c.634A= (p.Asn212=)
c.3103A= (p.Asn1035=)
c.3028A= (p.Asn1010=)
4g.183289501A>CCA358846042WWC2c.3250A>C (p.Asn1084His)
c.*2642A>C (n.*2642A>C)
c.*1046A>C (n.*1046A>C)
c.3322A>C (p.Asn1108His)
c.2296A>C (p.Asn766His)
c.634A>C (p.Asn212His)
c.3103A>C (p.Asn1035His)
c.3028A>C (p.Asn1010His)
4g.183289501A>GCA358846044WWC2c.3250A>G (p.Asn1084Asp)
c.*2642A>G (n.*2642A>G)
c.*1046A>G (n.*1046A>G)
c.3322A>G (p.Asn1108Asp)
c.2296A>G (p.Asn766Asp)
c.634A>G (p.Asn212Asp)
c.3103A>G (p.Asn1035Asp)
c.3028A>G (p.Asn1010Asp)
4g.183289501A>TCA358846045WWC2c.3250A>T (p.Asn1084Tyr)
c.*2642A>T (n.*2642A>T)
c.*1046A>T (n.*1046A>T)
c.3322A>T (p.Asn1108Tyr)
c.2296A>T (p.Asn766Tyr)
c.634A>T (p.Asn212Tyr)
c.3103A>T (p.Asn1035Tyr)
c.3028A>T (p.Asn1010Tyr)
4g.183289501_183289503delCA557393628WWC2c.3250_3252del (p.Asn1084del)
c.*2642_*2644del (n.*2642_*2644del)
c.*1046_*1048del (n.*1046_*1048del)
c.3322_3324del (p.Asn1108del)
c.2296_2298del (p.Asn766del)
c.634_636del (p.Asn212del)
c.3103_3105del (p.Asn1035del)
c.3028_3030del (p.Asn1010del)
dbSNP gnomAD v2 gnomAD v4
4g.183289502A=CA1518546729WWC2c.3251A= (p.Asn1084=)
c.*2643A= (n.*2643A=)
c.*1047A= (n.*1047A=)
c.3323A= (p.Asn1108=)
c.2297A= (p.Asn766=)
c.635A= (p.Asn212=)
c.3104A= (p.Asn1035=)
c.3029A= (p.Asn1010=)
4g.183289502A>CCA111773497WWC2c.3251A>C (p.Asn1084Thr)
c.*2643A>C (n.*2643A>C)
c.*1047A>C (n.*1047A>C)
c.3323A>C (p.Asn1108Thr)
c.2297A>C (p.Asn766Thr)
c.635A>C (p.Asn212Thr)
c.3104A>C (p.Asn1035Thr)
c.3029A>C (p.Asn1010Thr)
dbSNP
4g.183289502A>GCA3150311WWC2c.3251A>G (p.Asn1084Ser)
c.*2643A>G (n.*2643A>G)
c.*1047A>G (n.*1047A>G)
c.3323A>G (p.Asn1108Ser)
c.2297A>G (p.Asn766Ser)
c.635A>G (p.Asn212Ser)
c.3104A>G (p.Asn1035Ser)
c.3029A>G (p.Asn1010Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289502A>TCA358846047WWC2c.3251A>T (p.Asn1084Ile)
c.*2643A>T (n.*2643A>T)
c.*1047A>T (n.*1047A>T)
c.3323A>T (p.Asn1108Ile)
c.2297A>T (p.Asn766Ile)
c.635A>T (p.Asn212Ile)
c.3104A>T (p.Asn1035Ile)
c.3029A>T (p.Asn1010Ile)
4g.183289506_183289508dupCA557393629WWC2c.3255_3257dup (p.Asp1085_Glu1086insAsp)
c.*2647_*2649dup (n.*2647_*2649dup)
c.*1051_*1053dup (n.*1051_*1053dup)
c.3327_3329dup (p.Asp1109_Glu1110insAsp)
c.2301_2303dup (p.Asp767_Glu768insAsp)
c.639_641dup (p.Asp213_Glu214insAsp)
c.3108_3110dup (p.Asp1036_Glu1037insAsp)
c.3033_3035dup (p.Asp1011_Glu1012insAsp)
dbSNP gnomAD v2 gnomAD v4
4g.183289503T>ACA358846049WWC2c.3252T>A (p.Asn1084Lys)
c.*2644T>A (n.*2644T>A)
c.*1048T>A (n.*1048T>A)
c.3324T>A (p.Asn1108Lys)
c.2298T>A (p.Asn766Lys)
c.636T>A (p.Asn212Lys)
c.3105T>A (p.Asn1035Lys)
c.3030T>A (p.Asn1010Lys)
4g.183289503T>CCA3150312WWC2c.3252T>C (p.Asn1084=)
c.*2644T>C (n.*2644T>C)
c.*1048T>C (n.*1048T>C)
c.3324T>C (p.Asn1108=)
c.2298T>C (p.Asn766=)
c.636T>C (p.Asn212=)
c.3105T>C (p.Asn1035=)
c.3030T>C (p.Asn1010=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289503T>GCA358846051WWC2c.3252T>G (p.Asn1084Lys)
c.*2644T>G (n.*2644T>G)
c.*1048T>G (n.*1048T>G)
c.3324T>G (p.Asn1108Lys)
c.2298T>G (p.Asn766Lys)
c.636T>G (p.Asn212Lys)
c.3105T>G (p.Asn1035Lys)
c.3030T>G (p.Asn1010Lys)
4g.183289503T=CA1518546730WWC2c.3252T= (p.Asn1084=)
c.*2644T= (n.*2644T=)
c.*1048T= (n.*1048T=)
c.3324T= (p.Asn1108=)
c.2298T= (p.Asn766=)
c.636T= (p.Asn212=)
c.3105T= (p.Asn1035=)
c.3030T= (p.Asn1010=)
4g.183289504delCA2672776333WWC2c.3253del (p.Asp1085MetfsTer6)
c.*2645del (n.*2645del)
c.*1049del (n.*1049del)
c.3325del (p.Asp1109MetfsTer6)
c.2299del (p.Asp767MetfsTer6)
c.637del (p.Asp213MetfsTer6)
c.3106del (p.Asp1036MetfsTer6)
c.3031del (p.Asp1011MetfsTer6)
gnomAD v4
4g.183289504G>ACA358846054WWC2c.3253G>A (p.Asp1085Asn)
c.*2645G>A (n.*2645G>A)
c.*1049G>A (n.*1049G>A)
c.3325G>A (p.Asp1109Asn)
c.2299G>A (p.Asp767Asn)
c.637G>A (p.Asp213Asn)
c.3106G>A (p.Asp1036Asn)
c.3031G>A (p.Asp1011Asn)
4g.183289504G>CCA358846055WWC2c.3253G>C (p.Asp1085His)
c.*2645G>C (n.*2645G>C)
c.*1049G>C (n.*1049G>C)
c.3325G>C (p.Asp1109His)
c.2299G>C (p.Asp767His)
c.637G>C (p.Asp213His)
c.3106G>C (p.Asp1036His)
c.3031G>C (p.Asp1011His)
gnomAD v4
4g.183289504G>TCA358846057WWC2c.3253G>T (p.Asp1085Tyr)
c.*2645G>T (n.*2645G>T)
c.*1049G>T (n.*1049G>T)
c.3325G>T (p.Asp1109Tyr)
c.2299G>T (p.Asp767Tyr)
c.637G>T (p.Asp213Tyr)
c.3106G>T (p.Asp1036Tyr)
c.3031G>T (p.Asp1011Tyr)
4g.183289505A=CA1518546731WWC2c.3254A= (p.Asp1085=)
c.*2646A= (n.*2646A=)
c.*1050A= (n.*1050A=)
c.3326A= (p.Asp1109=)
c.2300A= (p.Asp767=)
c.638A= (p.Asp213=)
c.3107A= (p.Asp1036=)
c.3032A= (p.Asp1011=)
4g.183289505A>CCA358846059WWC2c.3254A>C (p.Asp1085Ala)
c.*2646A>C (n.*2646A>C)
c.*1050A>C (n.*1050A>C)
c.3326A>C (p.Asp1109Ala)
c.2300A>C (p.Asp767Ala)
c.638A>C (p.Asp213Ala)
c.3107A>C (p.Asp1036Ala)
c.3032A>C (p.Asp1011Ala)
4g.183289505A>GCA358846060WWC2c.3254A>G (p.Asp1085Gly)
c.*2646A>G (n.*2646A>G)
c.*1050A>G (n.*1050A>G)
c.3326A>G (p.Asp1109Gly)
c.2300A>G (p.Asp767Gly)
c.638A>G (p.Asp213Gly)
c.3107A>G (p.Asp1036Gly)
c.3032A>G (p.Asp1011Gly)
dbSNP gnomAD v3 gnomAD v4
4g.183289505A>TCA358846062WWC2c.3254A>T (p.Asp1085Val)
c.*2646A>T (n.*2646A>T)
c.*1050A>T (n.*1050A>T)
c.3326A>T (p.Asp1109Val)
c.2300A>T (p.Asp767Val)
c.638A>T (p.Asp213Val)
c.3107A>T (p.Asp1036Val)
c.3032A>T (p.Asp1011Val)
4g.183289506T>ACA358846064WWC2c.3255T>A (p.Asp1085Glu)
c.*2647T>A (n.*2647T>A)
c.*1051T>A (n.*1051T>A)
c.3327T>A (p.Asp1109Glu)
c.2301T>A (p.Asp767Glu)
c.639T>A (p.Asp213Glu)
c.3108T>A (p.Asp1036Glu)
c.3033T>A (p.Asp1011Glu)
4g.183289506T>CCA442557644WWC2c.3255T>C (p.Asp1085=)
c.*2647T>C (n.*2647T>C)
c.*1051T>C (n.*1051T>C)
c.3327T>C (p.Asp1109=)
c.2301T>C (p.Asp767=)
c.639T>C (p.Asp213=)
c.3108T>C (p.Asp1036=)
c.3033T>C (p.Asp1011=)
4g.183289506T>GCA358846066WWC2c.3255T>G (p.Asp1085Glu)
c.*2647T>G (n.*2647T>G)
c.*1051T>G (n.*1051T>G)
c.3327T>G (p.Asp1109Glu)
c.2301T>G (p.Asp767Glu)
c.639T>G (p.Asp213Glu)
c.3108T>G (p.Asp1036Glu)
c.3033T>G (p.Asp1011Glu)
4g.183289507G>ACA358846068WWC2c.3256G>A (p.Glu1086Lys)
c.*2648G>A (n.*2648G>A)
c.*1052G>A (n.*1052G>A)
c.3328G>A (p.Glu1110Lys)
c.2302G>A (p.Glu768Lys)
c.640G>A (p.Glu214Lys)
c.3109G>A (p.Glu1037Lys)
c.3034G>A (p.Glu1012Lys)
4g.183289507G>CCA358846070WWC2c.3256G>C (p.Glu1086Gln)
c.*2648G>C (n.*2648G>C)
c.*1052G>C (n.*1052G>C)
c.3328G>C (p.Glu1110Gln)
c.2302G>C (p.Glu768Gln)
c.640G>C (p.Glu214Gln)
c.3109G>C (p.Glu1037Gln)
c.3034G>C (p.Glu1012Gln)
4g.183289507G>TCA358846072WWC2c.3256G>T (p.Glu1086Ter)
c.*2648G>T (n.*2648G>T)
c.*1052G>T (n.*1052G>T)
c.3328G>T (p.Glu1110Ter)
c.2302G>T (p.Glu768Ter)
c.640G>T (p.Glu214Ter)
c.3109G>T (p.Glu1037Ter)
c.3034G>T (p.Glu1012Ter)
4g.183289508A>CCA358846078WWC2c.3257A>C (p.Glu1086Ala)
c.*2649A>C (n.*2649A>C)
c.*1053A>C (n.*1053A>C)
c.3329A>C (p.Glu1110Ala)
c.2303A>C (p.Glu768Ala)
c.641A>C (p.Glu214Ala)
c.3110A>C (p.Glu1037Ala)
c.3035A>C (p.Glu1012Ala)
gnomAD v4
4g.183289508A>GCA358846076WWC2c.3257A>G (p.Glu1086Gly)
c.*2649A>G (n.*2649A>G)
c.*1053A>G (n.*1053A>G)
c.3329A>G (p.Glu1110Gly)
c.2303A>G (p.Glu768Gly)
c.641A>G (p.Glu214Gly)
c.3110A>G (p.Glu1037Gly)
c.3035A>G (p.Glu1012Gly)
4g.183289508A>TCA358846074WWC2c.3257A>T (p.Glu1086Val)
c.*2649A>T (n.*2649A>T)
c.*1053A>T (n.*1053A>T)
c.3329A>T (p.Glu1110Val)
c.2303A>T (p.Glu768Val)
c.641A>T (p.Glu214Val)
c.3110A>T (p.Glu1037Val)
c.3035A>T (p.Glu1012Val)
4g.183289509G>ACA442557645WWC2c.3258G>A (p.Glu1086=)
c.*2650G>A (n.*2650G>A)
c.*1054G>A (n.*1054G>A)
c.3330G>A (p.Glu1110=)
c.2304G>A (p.Glu768=)
c.642G>A (p.Glu214=)
c.3111G>A (p.Glu1037=)
c.3036G>A (p.Glu1012=)
dbSNP gnomAD v2
4g.183289509G>CCA358846079WWC2c.3258G>C (p.Glu1086Asp)
c.*2650G>C (n.*2650G>C)
c.*1054G>C (n.*1054G>C)
c.3330G>C (p.Glu1110Asp)
c.2304G>C (p.Glu768Asp)
c.642G>C (p.Glu214Asp)
c.3111G>C (p.Glu1037Asp)
c.3036G>C (p.Glu1012Asp)
4g.183289509G=CA1518546732WWC2c.3258G= (p.Glu1086=)
c.*2650G= (n.*2650G=)
c.*1054G= (n.*1054G=)
c.3330G= (p.Glu1110=)
c.2304G= (p.Glu768=)
c.642G= (p.Glu214=)
c.3111G= (p.Glu1037=)
c.3036G= (p.Glu1012=)
4g.183289509G>TCA358846080WWC2c.3258G>T (p.Glu1086Asp)
c.*2650G>T (n.*2650G>T)
c.*1054G>T (n.*1054G>T)
c.3330G>T (p.Glu1110Asp)
c.2304G>T (p.Glu768Asp)
c.642G>T (p.Glu214Asp)
c.3111G>T (p.Glu1037Asp)
c.3036G>T (p.Glu1012Asp)
4g.183289510C>ACA358846083WWC2c.3259C>A (p.Leu1087Met)
c.*2651C>A (n.*2651C>A)
c.*1055C>A (n.*1055C>A)
c.3331C>A (p.Leu1111Met)
c.2305C>A (p.Leu769Met)
c.643C>A (p.Leu215Met)
c.3112C>A (p.Leu1038Met)
c.3037C>A (p.Leu1013Met)
4g.183289510C>GCA358846084WWC2c.3259C>G (p.Leu1087Val)
c.*2651C>G (n.*2651C>G)
c.*1055C>G (n.*1055C>G)
c.3331C>G (p.Leu1111Val)
c.2305C>G (p.Leu769Val)
c.643C>G (p.Leu215Val)
c.3112C>G (p.Leu1038Val)
c.3037C>G (p.Leu1013Val)
4g.183289510C>TCA442557646WWC2c.3259C>T (p.Leu1087=)
c.*2651C>T (n.*2651C>T)
c.*1055C>T (n.*1055C>T)
c.3331C>T (p.Leu1111=)
c.2305C>T (p.Leu769=)
c.643C>T (p.Leu215=)
c.3112C>T (p.Leu1038=)
c.3037C>T (p.Leu1013=)
4g.183289511T>ACA358846087WWC2c.3260T>A (p.Leu1087Gln)
c.*2652T>A (n.*2652T>A)
c.*1056T>A (n.*1056T>A)
c.3332T>A (p.Leu1111Gln)
c.2306T>A (p.Leu769Gln)
c.644T>A (p.Leu215Gln)
c.3113T>A (p.Leu1038Gln)
c.3038T>A (p.Leu1013Gln)
4g.183289511T>CCA204220WWC2c.3260T>C (p.Leu1087Pro)
c.*2652T>C (n.*2652T>C)
c.*1056T>C (n.*1056T>C)
c.3332T>C (p.Leu1111Pro)
c.2306T>C (p.Leu769Pro)
c.644T>C (p.Leu215Pro)
c.3113T>C (p.Leu1038Pro)
c.3038T>C (p.Leu1013Pro)
ClinVar dbSNP gnomAD v4
4g.183289511T>GCA358846090WWC2c.3260T>G (p.Leu1087Arg)
c.*2652T>G (n.*2652T>G)
c.*1056T>G (n.*1056T>G)
c.3332T>G (p.Leu1111Arg)
c.2306T>G (p.Leu769Arg)
c.644T>G (p.Leu215Arg)
c.3113T>G (p.Leu1038Arg)
c.3038T>G (p.Leu1013Arg)
4g.183289511T=CA1518546733WWC2c.3260T= (p.Leu1087=)
c.*2652T= (n.*2652T=)
c.*1056T= (n.*1056T=)
c.3332T= (p.Leu1111=)
c.2306T= (p.Leu769=)
c.644T= (p.Leu215=)
c.3113T= (p.Leu1038=)
c.3038T= (p.Leu1013=)
4g.183289512G>ACA442557647WWC2c.3261G>A (p.Leu1087=)
c.*2653G>A (n.*2653G>A)
c.*1057G>A (n.*1057G>A)
c.3333G>A (p.Leu1111=)
c.2307G>A (p.Leu769=)
c.645G>A (p.Leu215=)
c.3114G>A (p.Leu1038=)
c.3039G>A (p.Leu1013=)
4g.183289512G>CCA442557648WWC2c.3261G>C (p.Leu1087=)
c.*2653G>C (n.*2653G>C)
c.*1057G>C (n.*1057G>C)
c.3333G>C (p.Leu1111=)
c.2307G>C (p.Leu769=)
c.645G>C (p.Leu215=)
c.3114G>C (p.Leu1038=)
c.3039G>C (p.Leu1013=)
4g.183289512G>TCA442557649WWC2c.3261G>T (p.Leu1087=)
c.*2653G>T (n.*2653G>T)
c.*1057G>T (n.*1057G>T)
c.3333G>T (p.Leu1111=)
c.2307G>T (p.Leu769=)
c.645G>T (p.Leu215=)
c.3114G>T (p.Leu1038=)
c.3039G>T (p.Leu1013=)
4g.183289513C>ACA358846092WWC2c.3262C>A (p.Gln1088Lys)
c.*2654C>A (n.*2654C>A)
c.*1058C>A (n.*1058C>A)
c.3334C>A (p.Gln1112Lys)
c.2308C>A (p.Gln770Lys)
c.646C>A (p.Gln216Lys)
c.3115C>A (p.Gln1039Lys)
c.3040C>A (p.Gln1014Lys)
4g.183289513C>GCA358846094WWC2c.3262C>G (p.Gln1088Glu)
c.*2654C>G (n.*2654C>G)
c.*1058C>G (n.*1058C>G)
c.3334C>G (p.Gln1112Glu)
c.2308C>G (p.Gln770Glu)
c.646C>G (p.Gln216Glu)
c.3115C>G (p.Gln1039Glu)
c.3040C>G (p.Gln1014Glu)
4g.183289513C>TCA358846096WWC2c.3262C>T (p.Gln1088Ter)
c.*2654C>T (n.*2654C>T)
c.*1058C>T (n.*1058C>T)
c.3334C>T (p.Gln1112Ter)
c.2308C>T (p.Gln770Ter)
c.646C>T (p.Gln216Ter)
c.3115C>T (p.Gln1039Ter)
c.3040C>T (p.Gln1014Ter)
4g.183289514A=CA1518546734WWC2c.3263A= (p.Gln1088=)
c.*2655A= (n.*2655A=)
c.*1059A= (n.*1059A=)
c.3335A= (p.Gln1112=)
c.2309A= (p.Gln770=)
c.647A= (p.Gln216=)
c.3116A= (p.Gln1039=)
c.3041A= (p.Gln1014=)
4g.183289514A>CCA358846098WWC2c.3263A>C (p.Gln1088Pro)
c.*2655A>C (n.*2655A>C)
c.*1059A>C (n.*1059A>C)
c.3335A>C (p.Gln1112Pro)
c.2309A>C (p.Gln770Pro)
c.647A>C (p.Gln216Pro)
c.3116A>C (p.Gln1039Pro)
c.3041A>C (p.Gln1014Pro)
4g.183289514A>GCA358846100WWC2c.3263A>G (p.Gln1088Arg)
c.*2655A>G (n.*2655A>G)
c.*1059A>G (n.*1059A>G)
c.3335A>G (p.Gln1112Arg)
c.2309A>G (p.Gln770Arg)
c.647A>G (p.Gln216Arg)
c.3116A>G (p.Gln1039Arg)
c.3041A>G (p.Gln1014Arg)
4g.183289514A>TCA358846102WWC2c.3263A>T (p.Gln1088Leu)
c.*2655A>T (n.*2655A>T)
c.*1059A>T (n.*1059A>T)
c.3335A>T (p.Gln1112Leu)
c.2309A>T (p.Gln770Leu)
c.647A>T (p.Gln216Leu)
c.3116A>T (p.Gln1039Leu)
c.3041A>T (p.Gln1014Leu)
dbSNP
4g.183289515G>ACA442557650WWC2c.3264G>A (p.Gln1088=)
c.*2656G>A (n.*2656G>A)
c.*1060G>A (n.*1060G>A)
c.3336G>A (p.Gln1112=)
c.2310G>A (p.Gln770=)
c.648G>A (p.Gln216=)
c.3117G>A (p.Gln1039=)
c.3042G>A (p.Gln1014=)
gnomAD v4
4g.183289515G>CCA358846106WWC2c.3264G>C (p.Gln1088His)
c.*2656G>C (n.*2656G>C)
c.*1060G>C (n.*1060G>C)
c.3336G>C (p.Gln1112His)
c.2310G>C (p.Gln770His)
c.648G>C (p.Gln216His)
c.3117G>C (p.Gln1039His)
c.3042G>C (p.Gln1014His)
4g.183289515G>TCA358846105WWC2c.3264G>T (p.Gln1088His)
c.*2656G>T (n.*2656G>T)
c.*1060G>T (n.*1060G>T)
c.3336G>T (p.Gln1112His)
c.2310G>T (p.Gln770His)
c.648G>T (p.Gln216His)
c.3117G>T (p.Gln1039His)
c.3042G>T (p.Gln1014His)
4g.183289516dupCA2672776334WWC2c.3265dup (p.Ala1089GlyfsTer19)
c.*2657dup (n.*2657dup)
c.*1061dup (n.*1061dup)
c.3337dup (p.Ala1113GlyfsTer19)
c.2311dup (p.Ala771GlyfsTer19)
c.649dup (p.Ala217GlyfsTer19)
c.3118dup (p.Ala1040GlyfsTer19)
c.3043dup (p.Ala1015GlyfsTer19)
gnomAD v4
4g.183289516G>ACA358846110WWC2c.3265G>A (p.Ala1089Thr)
c.*2657G>A (n.*2657G>A)
c.*1061G>A (n.*1061G>A)
c.3337G>A (p.Ala1113Thr)
c.2311G>A (p.Ala771Thr)
c.649G>A (p.Ala217Thr)
c.3118G>A (p.Ala1040Thr)
c.3043G>A (p.Ala1015Thr)
4g.183289516G>CCA358846113WWC2c.3265G>C (p.Ala1089Pro)
c.*2657G>C (n.*2657G>C)
c.*1061G>C (n.*1061G>C)
c.3337G>C (p.Ala1113Pro)
c.2311G>C (p.Ala771Pro)
c.649G>C (p.Ala217Pro)
c.3118G>C (p.Ala1040Pro)
c.3043G>C (p.Ala1015Pro)
4g.183289516G>TCA358846111WWC2c.3265G>T (p.Ala1089Ser)
c.*2657G>T (n.*2657G>T)
c.*1061G>T (n.*1061G>T)
c.3337G>T (p.Ala1113Ser)
c.2311G>T (p.Ala771Ser)
c.649G>T (p.Ala217Ser)
c.3118G>T (p.Ala1040Ser)
c.3043G>T (p.Ala1015Ser)
4g.183289517C>ACA358846115WWC2c.3266C>A (p.Ala1089Glu)
c.*2658C>A (n.*2658C>A)
c.*1062C>A (n.*1062C>A)
c.3338C>A (p.Ala1113Glu)
c.2312C>A (p.Ala771Glu)
c.650C>A (p.Ala217Glu)
c.3119C>A (p.Ala1040Glu)
c.3044C>A (p.Ala1015Glu)
4g.183289517C=CA1518546735WWC2c.3266C= (p.Ala1089=)
c.*2658C= (n.*2658C=)
c.*1062C= (n.*1062C=)
c.3338C= (p.Ala1113=)
c.2312C= (p.Ala771=)
c.650C= (p.Ala217=)
c.3119C= (p.Ala1040=)
c.3044C= (p.Ala1015=)
4g.183289517C>GCA358846118WWC2c.3266C>G (p.Ala1089Gly)
c.*2658C>G (n.*2658C>G)
c.*1062C>G (n.*1062C>G)
c.3338C>G (p.Ala1113Gly)
c.2312C>G (p.Ala771Gly)
c.650C>G (p.Ala217Gly)
c.3119C>G (p.Ala1040Gly)
c.3044C>G (p.Ala1015Gly)
4g.183289517C>TCA3150313WWC2c.3266C>T (p.Ala1089Val)
c.*2658C>T (n.*2658C>T)
c.*1062C>T (n.*1062C>T)
c.3338C>T (p.Ala1113Val)
c.2312C>T (p.Ala771Val)
c.650C>T (p.Ala217Val)
c.3119C>T (p.Ala1040Val)
c.3044C>T (p.Ala1015Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289518G>ACA3150314WWC2c.3267G>A (p.Ala1089=)
c.*2659G>A (n.*2659G>A)
c.*1063G>A (n.*1063G>A)
c.3339G>A (p.Ala1113=)
c.2313G>A (p.Ala771=)
c.651G>A (p.Ala217=)
c.3120G>A (p.Ala1040=)
c.3045G>A (p.Ala1015=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289518G>CCA442557651WWC2c.3267G>C (p.Ala1089=)
c.*2659G>C (n.*2659G>C)
c.*1063G>C (n.*1063G>C)
c.3339G>C (p.Ala1113=)
c.2313G>C (p.Ala771=)
c.651G>C (p.Ala217=)
c.3120G>C (p.Ala1040=)
c.3045G>C (p.Ala1015=)
dbSNP gnomAD v4
4g.183289518G=CA1518546736WWC2c.3267G= (p.Ala1089=)
c.*2659G= (n.*2659G=)
c.*1063G= (n.*1063G=)
c.3339G= (p.Ala1113=)
c.2313G= (p.Ala771=)
c.651G= (p.Ala217=)
c.3120G= (p.Ala1040=)
c.3045G= (p.Ala1015=)
4g.183289518G>TCA442557652WWC2c.3267G>T (p.Ala1089=)
c.*2659G>T (n.*2659G>T)
c.*1063G>T (n.*1063G>T)
c.3339G>T (p.Ala1113=)
c.2313G>T (p.Ala771=)
c.651G>T (p.Ala217=)
c.3120G>T (p.Ala1040=)
c.3045G>T (p.Ala1015=)
dbSNP
4g.183289519C>ACA358846123WWC2c.3268C>A (p.Leu1090Met)
c.*2660C>A (n.*2660C>A)
c.*1064C>A (n.*1064C>A)
c.3340C>A (p.Leu1114Met)
c.2314C>A (p.Leu772Met)
c.652C>A (p.Leu218Met)
c.3121C>A (p.Leu1041Met)
c.3046C>A (p.Leu1016Met)
4g.183289519C>GCA358846121WWC2c.3268C>G (p.Leu1090Val)
c.*2660C>G (n.*2660C>G)
c.*1064C>G (n.*1064C>G)
c.3340C>G (p.Leu1114Val)
c.2314C>G (p.Leu772Val)
c.652C>G (p.Leu218Val)
c.3121C>G (p.Leu1041Val)
c.3046C>G (p.Leu1016Val)
4g.183289519C>TCA442557653WWC2c.3268C>T (p.Leu1090=)
c.*2660C>T (n.*2660C>T)
c.*1064C>T (n.*1064C>T)
c.3340C>T (p.Leu1114=)
c.2314C>T (p.Leu772=)
c.652C>T (p.Leu218=)
c.3121C>T (p.Leu1041=)
c.3046C>T (p.Leu1016=)
4g.183289520T>ACA358846125WWC2c.3269T>A (p.Leu1090Gln)
c.*2661T>A (n.*2661T>A)
c.*1065T>A (n.*1065T>A)
c.3341T>A (p.Leu1114Gln)
c.2315T>A (p.Leu772Gln)
c.653T>A (p.Leu218Gln)
c.3122T>A (p.Leu1041Gln)
c.3047T>A (p.Leu1016Gln)
4g.183289520T>CCA358846126WWC2c.3269T>C (p.Leu1090Pro)
c.*2661T>C (n.*2661T>C)
c.*1065T>C (n.*1065T>C)
c.3341T>C (p.Leu1114Pro)
c.2315T>C (p.Leu772Pro)
c.653T>C (p.Leu218Pro)
c.3122T>C (p.Leu1041Pro)
c.3047T>C (p.Leu1016Pro)
dbSNP
4g.183289520T>GCA358846128WWC2c.3269T>G (p.Leu1090Arg)
c.*2661T>G (n.*2661T>G)
c.*1065T>G (n.*1065T>G)
c.3341T>G (p.Leu1114Arg)
c.2315T>G (p.Leu772Arg)
c.653T>G (p.Leu218Arg)
c.3122T>G (p.Leu1041Arg)
c.3047T>G (p.Leu1016Arg)
4g.183289520T=CA1518546737WWC2c.3269T= (p.Leu1090=)
c.*2661T= (n.*2661T=)
c.*1065T= (n.*1065T=)
c.3341T= (p.Leu1114=)
c.2315T= (p.Leu772=)
c.653T= (p.Leu218=)
c.3122T= (p.Leu1041=)
c.3047T= (p.Leu1016=)
4g.183289521G>ACA442557654WWC2c.3270G>A (p.Leu1090=)
c.*2662G>A (n.*2662G>A)
c.*1066G>A (n.*1066G>A)
c.3342G>A (p.Leu1114=)
c.2316G>A (p.Leu772=)
c.654G>A (p.Leu218=)
c.3123G>A (p.Leu1041=)
c.3048G>A (p.Leu1016=)
4g.183289521G>CCA442557655WWC2c.3270G>C (p.Leu1090=)
c.*2662G>C (n.*2662G>C)
c.*1066G>C (n.*1066G>C)
c.3342G>C (p.Leu1114=)
c.2316G>C (p.Leu772=)
c.654G>C (p.Leu218=)
c.3123G>C (p.Leu1041=)
c.3048G>C (p.Leu1016=)
4g.183289521G=CA1518546738WWC2c.3270G= (p.Leu1090=)
c.*2662G= (n.*2662G=)
c.*1066G= (n.*1066G=)
c.3342G= (p.Leu1114=)
c.2316G= (p.Leu772=)
c.654G= (p.Leu218=)
c.3123G= (p.Leu1041=)
c.3048G= (p.Leu1016=)
4g.183289521G>TCA442557656WWC2c.3270G>T (p.Leu1090=)
c.*2662G>T (n.*2662G>T)
c.*1066G>T (n.*1066G>T)
c.3342G>T (p.Leu1114=)
c.2316G>T (p.Leu772=)
c.654G>T (p.Leu218=)
c.3123G>T (p.Leu1041=)
c.3048G>T (p.Leu1016=)
dbSNP gnomAD v3 gnomAD v4
4g.183289522A>CCA442557657WWC2c.3271A>C (p.Arg1091=)
c.*2663A>C (n.*2663A>C)
c.*1067A>C (n.*1067A>C)
c.3343A>C (p.Arg1115=)
c.2317A>C (p.Arg773=)
c.655A>C (p.Arg219=)
c.3124A>C (p.Arg1042=)
c.3049A>C (p.Arg1017=)
4g.183289522A>GCA358846131WWC2c.3271A>G (p.Arg1091Gly)
c.*2663A>G (n.*2663A>G)
c.*1067A>G (n.*1067A>G)
c.3343A>G (p.Arg1115Gly)
c.2317A>G (p.Arg773Gly)
c.655A>G (p.Arg219Gly)
c.3124A>G (p.Arg1042Gly)
c.3049A>G (p.Arg1017Gly)
4g.183289522A>TCA358846132WWC2c.3271A>T (p.Arg1091Trp)
c.*2663A>T (n.*2663A>T)
c.*1067A>T (n.*1067A>T)
c.3343A>T (p.Arg1115Trp)
c.2317A>T (p.Arg773Trp)
c.655A>T (p.Arg219Trp)
c.3124A>T (p.Arg1042Trp)
c.3049A>T (p.Arg1017Trp)
4g.183289523G>ACA358846135WWC2c.3272G>A (p.Arg1091Lys)
c.*2664G>A (n.*2664G>A)
c.*1068G>A (n.*1068G>A)
c.3344G>A (p.Arg1115Lys)
c.2318G>A (p.Arg773Lys)
c.656G>A (p.Arg219Lys)
c.3125G>A (p.Arg1042Lys)
c.3050G>A (p.Arg1017Lys)
4g.183289523G>CCA358846136WWC2c.3272G>C (p.Arg1091Thr)
c.*2664G>C (n.*2664G>C)
c.*1068G>C (n.*1068G>C)
c.3344G>C (p.Arg1115Thr)
c.2318G>C (p.Arg773Thr)
c.656G>C (p.Arg219Thr)
c.3125G>C (p.Arg1042Thr)
c.3050G>C (p.Arg1017Thr)
4g.183289523G>TCA358846138WWC2c.3272G>T (p.Arg1091Met)
c.*2664G>T (n.*2664G>T)
c.*1068G>T (n.*1068G>T)
c.3344G>T (p.Arg1115Met)
c.2318G>T (p.Arg773Met)
c.656G>T (p.Arg219Met)
c.3125G>T (p.Arg1042Met)
c.3050G>T (p.Arg1017Met)
4g.183289524G>ACA442557658WWC2c.3273G>A (p.Arg1091=)
c.*2665G>A (n.*2665G>A)
c.*1069G>A (n.*1069G>A)
c.3345G>A (p.Arg1115=)
c.2319G>A (p.Arg773=)
c.657G>A (p.Arg219=)
c.3126G>A (p.Arg1042=)
c.3051G>A (p.Arg1017=)
gnomAD v4
4g.183289524G>CCA358846140WWC2c.3273G>C (p.Arg1091Ser)
c.*2665G>C (n.*2665G>C)
c.*1069G>C (n.*1069G>C)
c.3345G>C (p.Arg1115Ser)
c.2319G>C (p.Arg773Ser)
c.657G>C (p.Arg219Ser)
c.3126G>C (p.Arg1042Ser)
c.3051G>C (p.Arg1017Ser)
gnomAD v4
4g.183289524G>TCA358846142WWC2c.3273G>T (p.Arg1091Ser)
c.*2665G>T (n.*2665G>T)
c.*1069G>T (n.*1069G>T)
c.3345G>T (p.Arg1115Ser)
c.2319G>T (p.Arg773Ser)
c.657G>T (p.Arg219Ser)
c.3126G>T (p.Arg1042Ser)
c.3051G>T (p.Arg1017Ser)
4g.183289525G>ACA358846148WWC2c.3274G>A (p.Asp1092Asn)
c.*2666G>A (n.*2666G>A)
c.*1070G>A (n.*1070G>A)
c.3346G>A (p.Asp1116Asn)
c.2320G>A (p.Asp774Asn)
c.658G>A (p.Asp220Asn)
c.3127G>A (p.Asp1043Asn)
c.3052G>A (p.Asp1018Asn)
gnomAD v4
4g.183289525G>CCA358846144WWC2c.3274G>C (p.Asp1092His)
c.*2666G>C (n.*2666G>C)
c.*1070G>C (n.*1070G>C)
c.3346G>C (p.Asp1116His)
c.2320G>C (p.Asp774His)
c.658G>C (p.Asp220His)
c.3127G>C (p.Asp1043His)
c.3052G>C (p.Asp1018His)
4g.183289525G>TCA358846146WWC2c.3274G>T (p.Asp1092Tyr)
c.*2666G>T (n.*2666G>T)
c.*1070G>T (n.*1070G>T)
c.3346G>T (p.Asp1116Tyr)
c.2320G>T (p.Asp774Tyr)
c.658G>T (p.Asp220Tyr)
c.3127G>T (p.Asp1043Tyr)
c.3052G>T (p.Asp1018Tyr)
4g.183289526A=CA1518546739WWC2c.3275A= (p.Asp1092=)
c.*2667A= (n.*2667A=)
c.*1071A= (n.*1071A=)
c.3347A= (p.Asp1116=)
c.2321A= (p.Asp774=)
c.659A= (p.Asp220=)
c.3128A= (p.Asp1043=)
c.3053A= (p.Asp1018=)
4g.183289526A>CCA358846150WWC2c.3275A>C (p.Asp1092Ala)
c.*2667A>C (n.*2667A>C)
c.*1071A>C (n.*1071A>C)
c.3347A>C (p.Asp1116Ala)
c.2321A>C (p.Asp774Ala)
c.659A>C (p.Asp220Ala)
c.3128A>C (p.Asp1043Ala)
c.3053A>C (p.Asp1018Ala)
4g.183289526A>GCA358846152WWC2c.3275A>G (p.Asp1092Gly)
c.*2667A>G (n.*2667A>G)
c.*1071A>G (n.*1071A>G)
c.3347A>G (p.Asp1116Gly)
c.2321A>G (p.Asp774Gly)
c.659A>G (p.Asp220Gly)
c.3128A>G (p.Asp1043Gly)
c.3053A>G (p.Asp1018Gly)
dbSNP
4g.183289526A>TCA358846154WWC2c.3275A>T (p.Asp1092Val)
c.*2667A>T (n.*2667A>T)
c.*1071A>T (n.*1071A>T)
c.3347A>T (p.Asp1116Val)
c.2321A>T (p.Asp774Val)
c.659A>T (p.Asp220Val)
c.3128A>T (p.Asp1043Val)
c.3053A>T (p.Asp1018Val)
4g.183289527C>ACA358846156WWC2c.3276C>A (p.Asp1092Glu)
c.*2668C>A (n.*2668C>A)
c.*1072C>A (n.*1072C>A)
c.3348C>A (p.Asp1116Glu)
c.2322C>A (p.Asp774Glu)
c.660C>A (p.Asp220Glu)
c.3129C>A (p.Asp1043Glu)
c.3054C>A (p.Asp1018Glu)
4g.183289527C>GCA358846158WWC2c.3276C>G (p.Asp1092Glu)
c.*2668C>G (n.*2668C>G)
c.*1072C>G (n.*1072C>G)
c.3348C>G (p.Asp1116Glu)
c.2322C>G (p.Asp774Glu)
c.660C>G (p.Asp220Glu)
c.3129C>G (p.Asp1043Glu)
c.3054C>G (p.Asp1018Glu)
4g.183289527C>TCA442557659WWC2c.3276C>T (p.Asp1092=)
c.*2668C>T (n.*2668C>T)
c.*1072C>T (n.*1072C>T)
c.3348C>T (p.Asp1116=)
c.2322C>T (p.Asp774=)
c.660C>T (p.Asp220=)
c.3129C>T (p.Asp1043=)
c.3054C>T (p.Asp1018=)
4g.183289528T>ACA358846159WWC2c.3277T>A (p.Leu1093Met)
c.*2669T>A (n.*2669T>A)
c.*1073T>A (n.*1073T>A)
c.3349T>A (p.Leu1117Met)
c.2323T>A (p.Leu775Met)
c.661T>A (p.Leu221Met)
c.3130T>A (p.Leu1044Met)
c.3055T>A (p.Leu1019Met)
4g.183289528T>CCA442557660WWC2c.3277T>C (p.Leu1093=)
c.*2669T>C (n.*2669T>C)
c.*1073T>C (n.*1073T>C)
c.3349T>C (p.Leu1117=)
c.2323T>C (p.Leu775=)
c.661T>C (p.Leu221=)
c.3130T>C (p.Leu1044=)
c.3055T>C (p.Leu1019=)
4g.183289528T>GCA358846161WWC2c.3277T>G (p.Leu1093Val)
c.*2669T>G (n.*2669T>G)
c.*1073T>G (n.*1073T>G)
c.3349T>G (p.Leu1117Val)
c.2323T>G (p.Leu775Val)
c.661T>G (p.Leu221Val)
c.3130T>G (p.Leu1044Val)
c.3055T>G (p.Leu1019Val)
4g.183289529T>ACA358846163WWC2c.3278T>A (p.Leu1093Ter)
c.*2670T>A (n.*2670T>A)
c.*1074T>A (n.*1074T>A)
c.3350T>A (p.Leu1117Ter)
c.2324T>A (p.Leu775Ter)
c.662T>A (p.Leu221Ter)
c.3131T>A (p.Leu1044Ter)
c.3056T>A (p.Leu1019Ter)
4g.183289529T>CCA358846165WWC2c.3278T>C (p.Leu1093Ser)
c.*2670T>C (n.*2670T>C)
c.*1074T>C (n.*1074T>C)
c.3350T>C (p.Leu1117Ser)
c.2324T>C (p.Leu775Ser)
c.662T>C (p.Leu221Ser)
c.3131T>C (p.Leu1044Ser)
c.3056T>C (p.Leu1019Ser)
gnomAD v4
4g.183289529T>GCA358846166WWC2c.3278T>G (p.Leu1093Trp)
c.*2670T>G (n.*2670T>G)
c.*1074T>G (n.*1074T>G)
c.3350T>G (p.Leu1117Trp)
c.2324T>G (p.Leu775Trp)
c.662T>G (p.Leu221Trp)
c.3131T>G (p.Leu1044Trp)
c.3056T>G (p.Leu1019Trp)
4g.183289529T=CA1518546740WWC2c.3278T= (p.Leu1093=)
c.*2670T= (n.*2670T=)
c.*1074T= (n.*1074T=)
c.3350T= (p.Leu1117=)
c.2324T= (p.Leu775=)
c.662T= (p.Leu221=)
c.3131T= (p.Leu1044=)
c.3056T= (p.Leu1019=)
4g.183289530G>ACA442557661WWC2c.3279G>A (p.Leu1093=)
c.*2671G>A (n.*2671G>A)
c.*1075G>A (n.*1075G>A)
c.3351G>A (p.Leu1117=)
c.2325G>A (p.Leu775=)
c.663G>A (p.Leu221=)
c.3132G>A (p.Leu1044=)
c.3057G>A (p.Leu1019=)
dbSNP
4g.183289530G>CCA358846170WWC2c.3279G>C (p.Leu1093Phe)
c.*2671G>C (n.*2671G>C)
c.*1075G>C (n.*1075G>C)
c.3351G>C (p.Leu1117Phe)
c.2325G>C (p.Leu775Phe)
c.663G>C (p.Leu221Phe)
c.3132G>C (p.Leu1044Phe)
c.3057G>C (p.Leu1019Phe)
4g.183289530G=CA1518546741WWC2c.3279G= (p.Leu1093=)
c.*2671G= (n.*2671G=)
c.*1075G= (n.*1075G=)
c.3351G= (p.Leu1117=)
c.2325G= (p.Leu775=)
c.663G= (p.Leu221=)
c.3132G= (p.Leu1044=)
c.3057G= (p.Leu1019=)
4g.183289530G>TCA358846168WWC2c.3279G>T (p.Leu1093Phe)
c.*2671G>T (n.*2671G>T)
c.*1075G>T (n.*1075G>T)
c.3351G>T (p.Leu1117Phe)
c.2325G>T (p.Leu775Phe)
c.663G>T (p.Leu221Phe)
c.3132G>T (p.Leu1044Phe)
c.3057G>T (p.Leu1019Phe)
dbSNP
4g.183289530dupCA3150315WWC2c.3279dup (p.Arg1094AlafsTer14)
c.*2671dup (n.*2671dup)
c.*1075dup (n.*1075dup)
c.3351dup (p.Arg1118AlafsTer14)
c.2325dup (p.Arg776AlafsTer14)
c.663dup (p.Arg222AlafsTer14)
c.3132dup (p.Arg1045AlafsTer14)
c.3057dup (p.Arg1020AlafsTer14)
dbSNP ExAC gnomAD v2
4g.183289531C>ACA442557662WWC2c.3280C>A (p.Arg1094=)
c.*2672C>A (n.*2672C>A)
c.*1076C>A (n.*1076C>A)
c.3352C>A (p.Arg1118=)
c.2326C>A (p.Arg776=)
c.664C>A (p.Arg222=)
c.3133C>A (p.Arg1045=)
c.3058C>A (p.Arg1020=)
4g.183289531C=CA1518546742WWC2c.3280C= (p.Arg1094=)
c.*2672C= (n.*2672C=)
c.*1076C= (n.*1076C=)
c.3352C= (p.Arg1118=)
c.2326C= (p.Arg776=)
c.664C= (p.Arg222=)
c.3133C= (p.Arg1045=)
c.3058C= (p.Arg1020=)
4g.183289531C>GCA3150316WWC2c.3280C>G (p.Arg1094Gly)
c.*2672C>G (n.*2672C>G)
c.*1076C>G (n.*1076C>G)
c.3352C>G (p.Arg1118Gly)
c.2326C>G (p.Arg776Gly)
c.664C>G (p.Arg222Gly)
c.3133C>G (p.Arg1045Gly)
c.3058C>G (p.Arg1020Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289531C>TCA3150317WWC2c.3280C>T (p.Arg1094Trp)
c.*2672C>T (n.*2672C>T)
c.*1076C>T (n.*1076C>T)
c.3352C>T (p.Arg1118Trp)
c.2326C>T (p.Arg776Trp)
c.664C>T (p.Arg222Trp)
c.3133C>T (p.Arg1045Trp)
c.3058C>T (p.Arg1020Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289532G>ACA3150318WWC2c.3281G>A (p.Arg1094Gln)
c.*2673G>A (n.*2673G>A)
c.*1077G>A (n.*1077G>A)
c.3353G>A (p.Arg1118Gln)
c.2327G>A (p.Arg776Gln)
c.665G>A (p.Arg222Gln)
c.3134G>A (p.Arg1045Gln)
c.3059G>A (p.Arg1020Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289532G>CCA358846176WWC2c.3281G>C (p.Arg1094Pro)
c.*2673G>C (n.*2673G>C)
c.*1077G>C (n.*1077G>C)
c.3353G>C (p.Arg1118Pro)
c.2327G>C (p.Arg776Pro)
c.665G>C (p.Arg222Pro)
c.3134G>C (p.Arg1045Pro)
c.3059G>C (p.Arg1020Pro)
4g.183289532G=CA1518546743WWC2c.3281G= (p.Arg1094=)
c.*2673G= (n.*2673G=)
c.*1077G= (n.*1077G=)
c.3353G= (p.Arg1118=)
c.2327G= (p.Arg776=)
c.665G= (p.Arg222=)
c.3134G= (p.Arg1045=)
c.3059G= (p.Arg1020=)
4g.183289532G>TCA358846177WWC2c.3281G>T (p.Arg1094Leu)
c.*2673G>T (n.*2673G>T)
c.*1077G>T (n.*1077G>T)
c.3353G>T (p.Arg1118Leu)
c.2327G>T (p.Arg776Leu)
c.665G>T (p.Arg222Leu)
c.3134G>T (p.Arg1045Leu)
c.3059G>T (p.Arg1020Leu)
dbSNP gnomAD v2 gnomAD v4
4g.183289533G>ACA3150319WWC2c.3282G>A (p.Arg1094=)
c.*2674G>A (n.*2674G>A)
c.*1078G>A (n.*1078G>A)
c.3354G>A (p.Arg1118=)
c.2328G>A (p.Arg776=)
c.666G>A (p.Arg222=)
c.3135G>A (p.Arg1045=)
c.3060G>A (p.Arg1020=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.183289533G>CCA442557664WWC2c.3282G>C (p.Arg1094=)
c.*2674G>C (n.*2674G>C)
c.*1078G>C (n.*1078G>C)
c.3354G>C (p.Arg1118=)
c.2328G>C (p.Arg776=)
c.666G>C (p.Arg222=)
c.3135G>C (p.Arg1045=)
c.3060G>C (p.Arg1020=)
4g.183289533G=CA1518546744WWC2c.3282G= (p.Arg1094=)
c.*2674G= (n.*2674G=)
c.*1078G= (n.*1078G=)
c.3354G= (p.Arg1118=)
c.2328G= (p.Arg776=)
c.666G= (p.Arg222=)
c.3135G= (p.Arg1045=)
c.3060G= (p.Arg1020=)
4g.183289533G>TCA442557663WWC2c.3282G>T (p.Arg1094=)
c.*2674G>T (n.*2674G>T)
c.*1078G>T (n.*1078G>T)
c.3354G>T (p.Arg1118=)
c.2328G>T (p.Arg776=)
c.666G>T (p.Arg222=)
c.3135G>T (p.Arg1045=)
c.3060G>T (p.Arg1020=)
4g.183289534C>ACA358846181WWC2c.3283C>A (p.Gln1095Lys)
c.*2675C>A (n.*2675C>A)
c.*1079C>A (n.*1079C>A)
c.3355C>A (p.Gln1119Lys)
c.2329C>A (p.Gln777Lys)
c.667C>A (p.Gln223Lys)
c.3136C>A (p.Gln1046Lys)
c.3061C>A (p.Gln1021Lys)
4g.183289534C>GCA358846183WWC2c.3283C>G (p.Gln1095Glu)
c.*2675C>G (n.*2675C>G)
c.*1079C>G (n.*1079C>G)
c.3355C>G (p.Gln1119Glu)
c.2329C>G (p.Gln777Glu)
c.667C>G (p.Gln223Glu)
c.3136C>G (p.Gln1046Glu)
c.3061C>G (p.Gln1021Glu)
4g.183289534C>TCA358846184WWC2c.3283C>T (p.Gln1095Ter)
c.*2675C>T (n.*2675C>T)
c.*1079C>T (n.*1079C>T)
c.3355C>T (p.Gln1119Ter)
c.2329C>T (p.Gln777Ter)
c.667C>T (p.Gln223Ter)
c.3136C>T (p.Gln1046Ter)
c.3061C>T (p.Gln1021Ter)
gnomAD v4
4g.183289535A>CCA358846187WWC2c.3284A>C (p.Gln1095Pro)
c.*2676A>C (n.*2676A>C)
c.*1080A>C (n.*1080A>C)
c.3356A>C (p.Gln1119Pro)
c.2330A>C (p.Gln777Pro)
c.668A>C (p.Gln223Pro)
c.3137A>C (p.Gln1046Pro)
c.3062A>C (p.Gln1021Pro)
4g.183289535A>GCA358846189WWC2c.3284A>G (p.Gln1095Arg)
c.*2676A>G (n.*2676A>G)
c.*1080A>G (n.*1080A>G)
c.3356A>G (p.Gln1119Arg)
c.2330A>G (p.Gln777Arg)
c.668A>G (p.Gln223Arg)
c.3137A>G (p.Gln1046Arg)
c.3062A>G (p.Gln1021Arg)
4g.183289535A>TCA358846190WWC2c.3284A>T (p.Gln1095Leu)
c.*2676A>T (n.*2676A>T)
c.*1080A>T (n.*1080A>T)
c.3356A>T (p.Gln1119Leu)
c.2330A>T (p.Gln777Leu)
c.668A>T (p.Gln223Leu)
c.3137A>T (p.Gln1046Leu)
c.3062A>T (p.Gln1021Leu)
4g.183289536G>ACA442557665WWC2c.3285G>A (p.Gln1095=)
c.*2677G>A (n.*2677G>A)
c.*1081G>A (n.*1081G>A)
c.3357G>A (p.Gln1119=)
c.2331G>A (p.Gln777=)
c.669G>A (p.Gln223=)
c.3138G>A (p.Gln1046=)
c.3063G>A (p.Gln1021=)
4g.183289536G>CCA358846195WWC2c.3285G>C (p.Gln1095His)
c.*2677G>C (n.*2677G>C)
c.*1081G>C (n.*1081G>C)
c.3357G>C (p.Gln1119His)
c.2331G>C (p.Gln777His)
c.669G>C (p.Gln223His)
c.3138G>C (p.Gln1046His)
c.3063G>C (p.Gln1021His)
4g.183289536G>TCA358846193WWC2c.3285G>T (p.Gln1095His)
c.*2677G>T (n.*2677G>T)
c.*1081G>T (n.*1081G>T)
c.3357G>T (p.Gln1119His)
c.2331G>T (p.Gln777His)
c.669G>T (p.Gln223His)
c.3138G>T (p.Gln1046His)
c.3063G>T (p.Gln1021His)
4g.183289537A=CA1518546745WWC2c.3286A= (p.Lys1096=)
c.*2678A= (n.*2678A=)
c.*1082A= (n.*1082A=)
c.3358A= (p.Lys1120=)
c.2332A= (p.Lys778=)
c.670A= (p.Lys224=)
c.3139A= (p.Lys1047=)
c.3064A= (p.Lys1022=)
4g.183289537A>CCA358846197WWC2c.3286A>C (p.Lys1096Gln)
c.*2678A>C (n.*2678A>C)
c.*1082A>C (n.*1082A>C)
c.3358A>C (p.Lys1120Gln)
c.2332A>C (p.Lys778Gln)
c.670A>C (p.Lys224Gln)
c.3139A>C (p.Lys1047Gln)
c.3064A>C (p.Lys1022Gln)
4g.183289537A>GCA358846198WWC2c.3286A>G (p.Lys1096Glu)
c.*2678A>G (n.*2678A>G)
c.*1082A>G (n.*1082A>G)
c.3358A>G (p.Lys1120Glu)
c.2332A>G (p.Lys778Glu)
c.670A>G (p.Lys224Glu)
c.3139A>G (p.Lys1047Glu)
c.3064A>G (p.Lys1022Glu)
dbSNP
4g.183289537A>TCA358846200WWC2c.3286A>T (p.Lys1096Ter)
c.*2678A>T (n.*2678A>T)
c.*1082A>T (n.*1082A>T)
c.3358A>T (p.Lys1120Ter)
c.2332A>T (p.Lys778Ter)
c.670A>T (p.Lys224Ter)
c.3139A>T (p.Lys1047Ter)
c.3064A>T (p.Lys1022Ter)
4g.183289538A>CCA358846203WWC2c.3287A>C (p.Lys1096Thr)
c.*2679A>C (n.*2679A>C)
c.*1083A>C (n.*1083A>C)
c.3359A>C (p.Lys1120Thr)
c.2333A>C (p.Lys778Thr)
c.671A>C (p.Lys224Thr)
c.3140A>C (p.Lys1047Thr)
c.3065A>C (p.Lys1022Thr)
gnomAD v4
4g.183289538A>GCA358846204WWC2c.3287A>G (p.Lys1096Arg)
c.*2679A>G (n.*2679A>G)
c.*1083A>G (n.*1083A>G)
c.3359A>G (p.Lys1120Arg)
c.2333A>G (p.Lys778Arg)
c.671A>G (p.Lys224Arg)
c.3140A>G (p.Lys1047Arg)
c.3065A>G (p.Lys1022Arg)
4g.183289538A>TCA358846206WWC2c.3287A>T (p.Lys1096Met)
c.*2679A>T (n.*2679A>T)
c.*1083A>T (n.*1083A>T)
c.3359A>T (p.Lys1120Met)
c.2333A>T (p.Lys778Met)
c.671A>T (p.Lys224Met)
c.3140A>T (p.Lys1047Met)
c.3065A>T (p.Lys1022Met)
4g.183289539G>ACA442557666WWC2c.3288G>A (p.Lys1096=)
c.*2680G>A (n.*2680G>A)
c.*1084G>A (n.*1084G>A)
c.3360G>A (p.Lys1120=)
c.2334G>A (p.Lys778=)
c.672G>A (p.Lys224=)
c.3141G>A (p.Lys1047=)
c.3066G>A (p.Lys1022=)
gnomAD v4
4g.183289539G>CCA358846208WWC2c.3288G>C (p.Lys1096Asn)
c.*2680G>C (n.*2680G>C)
c.*1084G>C (n.*1084G>C)
c.3360G>C (p.Lys1120Asn)
c.2334G>C (p.Lys778Asn)
c.672G>C (p.Lys224Asn)
c.3141G>C (p.Lys1047Asn)
c.3066G>C (p.Lys1022Asn)
4g.183289539G>TCA358846210WWC2c.3288G>T (p.Lys1096Asn)
c.*2680G>T (n.*2680G>T)
c.*1084G>T (n.*1084G>T)
c.3360G>T (p.Lys1120Asn)
c.2334G>T (p.Lys778Asn)
c.672G>T (p.Lys224Asn)
c.3141G>T (p.Lys1047Asn)
c.3066G>T (p.Lys1022Asn)
4g.183289540C>ACA358846212WWC2c.3289C>A (p.Leu1097Met)
c.*2681C>A (n.*2681C>A)
c.*1085C>A (n.*1085C>A)
c.3361C>A (p.Leu1121Met)
c.2335C>A (p.Leu779Met)
c.673C>A (p.Leu225Met)
c.3142C>A (p.Leu1048Met)
c.3067C>A (p.Leu1023Met)
4g.183289540C>GCA358846214WWC2c.3289C>G (p.Leu1097Val)
c.*2681C>G (n.*2681C>G)
c.*1085C>G (n.*1085C>G)
c.3361C>G (p.Leu1121Val)
c.2335C>G (p.Leu779Val)
c.673C>G (p.Leu225Val)
c.3142C>G (p.Leu1048Val)
c.3067C>G (p.Leu1023Val)
gnomAD v4
4g.183289540C>TCA442557667WWC2c.3289C>T (p.Leu1097=)
c.*2681C>T (n.*2681C>T)
c.*1085C>T (n.*1085C>T)
c.3361C>T (p.Leu1121=)
c.2335C>T (p.Leu779=)
c.673C>T (p.Leu225=)
c.3142C>T (p.Leu1048=)
c.3067C>T (p.Leu1023=)
4g.183289541T>ACA358846216WWC2c.3290T>A (p.Leu1097Gln)
c.*2682T>A (n.*2682T>A)
c.*1086T>A (n.*1086T>A)
c.3362T>A (p.Leu1121Gln)
c.2336T>A (p.Leu779Gln)
c.674T>A (p.Leu225Gln)
c.3143T>A (p.Leu1048Gln)
c.3068T>A (p.Leu1023Gln)
4g.183289541T>CCA358846218WWC2c.3290T>C (p.Leu1097Pro)
c.*2682T>C (n.*2682T>C)
c.*1086T>C (n.*1086T>C)
c.3362T>C (p.Leu1121Pro)
c.2336T>C (p.Leu779Pro)
c.674T>C (p.Leu225Pro)
c.3143T>C (p.Leu1048Pro)
c.3068T>C (p.Leu1023Pro)
4g.183289541T>GCA358846220WWC2c.3290T>G (p.Leu1097Arg)
c.*2682T>G (n.*2682T>G)
c.*1086T>G (n.*1086T>G)
c.3362T>G (p.Leu1121Arg)
c.2336T>G (p.Leu779Arg)
c.674T>G (p.Leu225Arg)
c.3143T>G (p.Leu1048Arg)
c.3068T>G (p.Leu1023Arg)

Number of alleles fetched