Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.183289443G>A | CA442557547 | WWC2 | c.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 |
4 | g.183289443G>C | CA442557548 | WWC2 | c.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=) | |
4 | g.183289443G= | CA1518546700 | WWC2 | c.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=) | |
4 | g.183289443G>T | CA442557549 | WWC2 | c.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 |
4 | g.183289444A>C | CA358845813 | WWC2 | c.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) | |
4 | g.183289444A>G | CA358845815 | WWC2 | c.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 |
4 | g.183289444A>T | CA358845816 | WWC2 | c.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) | |
4 | g.183289445C>A | CA358845818 | WWC2 | c.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) | |
4 | g.183289445C>G | CA358845819 | WWC2 | c.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) | |
4 | g.183289445C>T | CA358845821 | WWC2 | c.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) | |
4 | g.183289446A= | CA1518546701 | WWC2 | c.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=) | |
4 | g.183289446A>C | CA3150299 | WWC2 | c.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 |
4 | g.183289446A>G | CA3150298 | WWC2 | c.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 |
4 | g.183289446A>T | CA442557550 | WWC2 | c.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=) | |
4 | g.183289447T>A | CA358845826 | WWC2 | c.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) | |
4 | g.183289447T>C | CA358845827 | WWC2 | c.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) | |
4 | g.183289447T>G | CA358845825 | WWC2 | c.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) | |
4 | g.183289448C>A | CA358845829 | WWC2 | c.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 |
4 | g.183289448C>G | CA358845830 | WWC2 | c.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) | |
4 | g.183289448C>T | CA358845832 | WWC2 | c.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 |
4 | g.183289449T>A | CA442557552 | WWC2 | c.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=) | |
4 | g.183289449T>C | CA442557553 | WWC2 | c.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=) | |
4 | g.183289449T>G | CA442557554 | WWC2 | c.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=) | |
4 | g.183289450C>A | CA358845834 | WWC2 | c.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) | |
4 | g.183289450C>G | CA358845836 | WWC2 | c.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) | |
4 | g.183289450C>T | CA442557555 | WWC2 | c.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=) | |
4 | g.183289451T>A | CA358845838 | WWC2 | c.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) | |
4 | g.183289451T>C | CA358845840 | WWC2 | c.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) | |
4 | g.183289451T>G | CA358845842 | WWC2 | c.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 |
4 | g.183289452A= | CA1518546702 | WWC2 | c.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=) | |
4 | g.183289452A>C | CA442557557 | WWC2 | c.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=) | |
4 | g.183289452A>G | CA3150300 | WWC2 | c.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 |
4 | g.183289452A>T | CA442557559 | WWC2 | c.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=) | |
4 | g.183289453G>A | CA358845845 | WWC2 | c.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 |
4 | g.183289453G>C | CA358845848 | WWC2 | c.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) | |
4 | g.183289453G>T | CA358845850 | WWC2 | c.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) | |
4 | g.183289454A>C | CA358845854 | WWC2 | c.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) | |
4 | g.183289454A>G | CA358845856 | WWC2 | c.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) | |
4 | g.183289454A>T | CA358845852 | WWC2 | c.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) | |
4 | g.183289455C>A | CA358845858 | WWC2 | c.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) | |
4 | g.183289455C= | CA1518546703 | WWC2 | c.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=) | |
4 | g.183289455C>G | CA358845860 | WWC2 | c.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 |
4 | g.183289455C>T | CA442557561 | WWC2 | c.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 |
4 | g.183289456T>A | CA358845862 | WWC2 | c.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) | |
4 | g.183289456T>C | CA442557564 | WWC2 | c.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=) | |
4 | g.183289456T>G | CA358845863 | WWC2 | c.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) | |
4 | g.183289457T>A | CA358845867 | WWC2 | c.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) | |
4 | g.183289457T>C | CA358845865 | WWC2 | c.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 |
4 | g.183289457T>G | CA111773385 | WWC2 | c.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 |
4 | g.183289457T= | CA1518546704 | WWC2 | c.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=) | |
4 | g.183289458A= | CA1518546705 | WWC2 | c.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=) | |
4 | g.183289458A>C | CA3150301 | WWC2 | c.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 |
4 | g.183289458A>G | CA3150302 | WWC2 | c.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 |
4 | g.183289458A>T | CA358845871 | WWC2 | c.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) | |
4 | g.183289459G>A | CA358845873 | WWC2 | c.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 |
4 | g.183289459G>C | CA358845875 | WWC2 | c.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 |
4 | g.183289459G>T | CA358845877 | WWC2 | c.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) | |
4 | g.183289460A>C | CA358845879 | WWC2 | c.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) | |
4 | g.183289460A>G | CA358845883 | WWC2 | c.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) | |
4 | g.183289460A>T | CA358845881 | WWC2 | c.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) | |
4 | g.183289461A>C | CA358845885 | WWC2 | c.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) | |
4 | g.183289461A>G | CA442557570 | WWC2 | c.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=) | |
4 | g.183289461A>T | CA358845886 | WWC2 | c.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) | |
4 | g.183289462C>A | CA358845889 | WWC2 | c.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) | |
4 | g.183289462C>G | CA358845890 | WWC2 | c.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) | |
4 | g.183289462C>T | CA442557572 | WWC2 | c.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 |
4 | g.183289463T>A | CA358845893 | WWC2 | c.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) | |
4 | g.183289463T>C | CA358845895 | WWC2 | c.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 |
4 | g.183289463T>G | CA358845896 | WWC2 | c.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 |
4 | g.183289463T= | CA1518546706 | WWC2 | c.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=) | |
4 | g.183289464G>A | CA442557611 | WWC2 | c.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 |
4 | g.183289464G>C | CA442557612 | WWC2 | c.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=) | |
4 | g.183289464G= | CA1518546707 | WWC2 | c.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=) | |
4 | g.183289464G>T | CA442557613 | WWC2 | c.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=) | |
4 | g.183289465G>A | CA358845899 | WWC2 | c.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 |
4 | g.183289465G>C | CA358845901 | WWC2 | c.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) | |
4 | g.183289465G>T | CA358845903 | WWC2 | c.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 |
4 | g.183289466A= | CA1518546708 | WWC2 | c.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=) | |
4 | g.183289466A>C | CA358845905 | WWC2 | c.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) | |
4 | g.183289466A>G | CA358845907 | WWC2 | c.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) | |
4 | g.183289466A>T | CA358845909 | WWC2 | c.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 |
4 | g.183289467C>A | CA358845911 | WWC2 | c.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) | |
4 | g.183289467C= | CA1518546709 | WWC2 | c.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=) | |
4 | g.183289467C>G | CA358845913 | WWC2 | c.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) | |
4 | g.183289467C>T | CA442557614 | WWC2 | c.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 |
4 | g.183289468C>A | CA358845919 | WWC2 | c.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 |
4 | g.183289468C= | CA1518546710 | WWC2 | c.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=) | |
4 | g.183289468C>G | CA358845916 | WWC2 | c.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) | |
4 | g.183289468C>T | CA358845917 | WWC2 | c.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 |
4 | g.183289469T>A | CA358845922 | WWC2 | c.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) | |
4 | g.183289469T>C | CA358845923 | WWC2 | c.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) | |
4 | g.183289469T>G | CA358845925 | WWC2 | c.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 |
4 | g.183289470T>A | CA442557615 | WWC2 | c.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=) | |
4 | g.183289470T>C | CA442557616 | WWC2 | c.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 |
4 | g.183289470T>G | CA442557617 | WWC2 | c.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=) | |
4 | g.183289470T= | CA1518546711 | WWC2 | c.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=) | |
4 | g.183289471C>A | CA358845927 | WWC2 | c.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) | |
4 | g.183289471C= | CA1518546712 | WWC2 | c.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=) | |
4 | g.183289471C>G | CA358845928 | WWC2 | c.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) | |
4 | g.183289471C>T | CA358845930 | WWC2 | c.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 |
4 | g.183289472A= | CA1518546714 | WWC2 | c.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=) | |
4 | g.183289472A>C | CA358845932 | WWC2 | c.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) | |
4 | g.183289472A>G | CA358845934 | WWC2 | c.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 |
4 | g.183289472A>T | CA358845935 | WWC2 | c.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) | |
4 | g.183289472_183289486delinsAGGCATCTCTGACCC | CA1518546713 | WWC2 | c.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=) | |
4 | g.183289473G>A | CA442557618 | WWC2 | c.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=) | |
4 | g.183289473G>C | CA358845937 | WWC2 | c.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) | |
4 | g.183289473G>T | CA358845939 | WWC2 | c.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) | |
4 | g.183289477_183289490del | CA557393627 | WWC2 | c.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 |
4 | g.183289474G>A | CA358845943 | WWC2 | c.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) | |
4 | g.183289474G>C | CA358845945 | WWC2 | c.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 |
4 | g.183289474G>T | CA358845941 | WWC2 | c.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 |
4 | g.183289475C>A | CA358845947 | WWC2 | c.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) | |
4 | g.183289475C>G | CA358845948 | WWC2 | c.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) | |
4 | g.183289475C>T | CA358845950 | WWC2 | c.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 |
4 | g.183289476A>C | CA442557619 | WWC2 | c.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=) | |
4 | g.183289476A>G | CA442557621 | WWC2 | c.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=) | |
4 | g.183289476A>T | CA442557620 | WWC2 | c.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=) | |
4 | g.183289477T>A | CA358845952 | WWC2 | c.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) | |
4 | g.183289477T>C | CA358845954 | WWC2 | c.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) | |
4 | g.183289477T>G | CA358845956 | WWC2 | c.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) | |
4 | g.183289478C>A | CA358845961 | WWC2 | c.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) | |
4 | g.183289478C>G | CA358845958 | WWC2 | c.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) | |
4 | g.183289478C>T | CA358845960 | WWC2 | c.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) | |
4 | g.183289479T>A | CA442557622 | WWC2 | c.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=) | |
4 | g.183289479T>C | CA442557623 | WWC2 | c.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 |
4 | g.183289479T>G | CA442557624 | WWC2 | c.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=) | |
4 | g.183289479T= | CA1518546715 | WWC2 | c.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=) | |
4 | g.183289480C>A | CA358845963 | WWC2 | c.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) | |
4 | g.183289480C>G | CA358845965 | WWC2 | c.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) | |
4 | g.183289480C>T | CA442557625 | WWC2 | c.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=) | |
4 | g.183289481T>A | CA358845967 | WWC2 | c.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) | |
4 | g.183289481T>C | CA358845969 | WWC2 | c.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) | |
4 | g.183289481T>G | CA358845971 | WWC2 | c.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) | |
4 | g.183289482G>A | CA442557626 | WWC2 | c.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 |
4 | g.183289482G>C | CA442557627 | WWC2 | c.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=) | |
4 | g.183289482G= | CA1518546716 | WWC2 | c.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=) | |
4 | g.183289482G>T | CA442557628 | WWC2 | c.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=) | |
4 | g.183289483A= | CA1518546717 | WWC2 | c.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=) | |
4 | g.183289483A>C | CA358845973 | WWC2 | c.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 |
4 | g.183289483A>G | CA358845977 | WWC2 | c.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) | |
4 | g.183289483A>T | CA358845975 | WWC2 | c.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) | |
4 | g.183289484C>A | CA358845979 | WWC2 | c.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) | |
4 | g.183289484C>G | CA358845980 | WWC2 | c.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 |
4 | g.183289484C>T | CA358845981 | WWC2 | c.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) | |
4 | g.183289485C>A | CA442557630 | WWC2 | c.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=) | |
4 | g.183289485C>G | CA442557631 | WWC2 | c.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=) | |
4 | g.183289485C>T | CA442557632 | WWC2 | c.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=) | |
4 | g.183289486C>A | CA442557633 | WWC2 | c.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 |
4 | g.183289486C= | CA1518546718 | WWC2 | c.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=) | |
4 | g.183289486C>G | CA358845983 | WWC2 | c.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) | |
4 | g.183289486C>T | CA3150303 | WWC2 | c.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 |
4 | g.183289487G>A | CA111773424 | WWC2 | c.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 |
4 | g.183289487G>C | CA358845987 | WWC2 | c.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) | |
4 | g.183289487G= | CA1518546719 | WWC2 | c.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=) | |
4 | g.183289487G>T | CA358845989 | WWC2 | c.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 |
4 | g.183289488G>A | CA442557634 | WWC2 | c.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=) | |
4 | g.183289488G>C | CA442557635 | WWC2 | c.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=) | |
4 | g.183289488G>T | CA442557636 | WWC2 | c.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=) | |
4 | g.183289489C>A | CA358845991 | WWC2 | c.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 |
4 | g.183289489C= | CA1518546720 | WWC2 | c.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=) | |
4 | g.183289489C>G | CA358845993 | WWC2 | c.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) | |
4 | g.183289489C>T | CA358845995 | WWC2 | c.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 |
4 | g.183289490A>C | CA358846001 | WWC2 | c.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) | |
4 | g.183289490A>G | CA358845999 | WWC2 | c.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) | |
4 | g.183289490A>T | CA358845997 | WWC2 | c.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) | |
4 | g.183289491G>A | CA3150304 | WWC2 | c.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 |
4 | g.183289491G>C | CA358846005 | WWC2 | c.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) | |
4 | g.183289491G= | CA1518546721 | WWC2 | c.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=) | |
4 | g.183289491G>T | CA358846006 | WWC2 | c.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) | |
4 | g.183289492A= | CA1518546722 | WWC2 | c.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=) | |
4 | g.183289492A>C | CA358846009 | WWC2 | c.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) | |
4 | g.183289492A>G | CA3150305 | WWC2 | c.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 |
4 | g.183289492A>T | CA358846012 | WWC2 | c.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) | |
4 | g.183289493G>A | CA358846018 | WWC2 | c.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 |
4 | g.183289493G>C | CA358846014 | WWC2 | c.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 |
4 | g.183289493G>T | CA358846015 | WWC2 | c.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 |
4 | g.183289494C>A | CA3150306 | WWC2 | c.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 |
4 | g.183289494C= | CA1518546723 | WWC2 | c.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=) | |
4 | g.183289494C>G | CA358846020 | WWC2 | c.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) | |
4 | g.183289494C>T | CA442557637 | WWC2 | c.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=) | |
4 | g.183289495C>A | CA358846022 | WWC2 | c.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) | |
4 | g.183289495C= | CA1518546724 | WWC2 | c.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=) | |
4 | g.183289495C>G | CA358846024 | WWC2 | c.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) | |
4 | g.183289495C>T | CA3150307 | WWC2 | c.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 |
4 | g.183289496G>A | CA3150309 | WWC2 | c.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 |
4 | g.183289496G>C | CA358846028 | WWC2 | c.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 |
4 | g.183289496G= | CA1518546725 | WWC2 | c.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=) | |
4 | g.183289496G>T | CA3150308 | WWC2 | c.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 |
4 | g.183289497C>A | CA442557638 | WWC2 | c.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=) | |
4 | g.183289497C>G | CA442557639 | WWC2 | c.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=) | |
4 | g.183289497C>T | CA442557640 | WWC2 | c.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=) | |
4 | g.183289498C>A | CA358846032 | WWC2 | c.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) | |
4 | g.183289498C= | CA1518546726 | WWC2 | c.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=) | |
4 | g.183289498C>G | CA3150310 | WWC2 | c.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 |
4 | g.183289498C>T | CA358846034 | WWC2 | c.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) | |
4 | g.183289499T>A | CA358846036 | WWC2 | c.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) | |
4 | g.183289499T>C | CA358846038 | WWC2 | c.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) | |
4 | g.183289499T>G | CA358846040 | WWC2 | c.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) | |
4 | g.183289500C>A | CA442557641 | WWC2 | c.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=) | |
4 | g.183289500C>G | CA442557642 | WWC2 | c.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=) | |
4 | g.183289500C>T | CA442557643 | WWC2 | c.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=) | |
4 | g.183289500_183289503delinsCAAT | CA1518546727 | WWC2 | c.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=) | |
4 | g.183289501A= | CA1518546728 | WWC2 | c.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=) | |
4 | g.183289501A>C | CA358846042 | WWC2 | c.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) | |
4 | g.183289501A>G | CA358846044 | WWC2 | c.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) | |
4 | g.183289501A>T | CA358846045 | WWC2 | c.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) | |
4 | g.183289501_183289503del | CA557393628 | WWC2 | c.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 |
4 | g.183289502A= | CA1518546729 | WWC2 | c.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=) | |
4 | g.183289502A>C | CA111773497 | WWC2 | c.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 |
4 | g.183289502A>G | CA3150311 | WWC2 | c.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 |
4 | g.183289502A>T | CA358846047 | WWC2 | c.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) | |
4 | g.183289506_183289508dup | CA557393629 | WWC2 | c.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 |
4 | g.183289503T>A | CA358846049 | WWC2 | c.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) | |
4 | g.183289503T>C | CA3150312 | WWC2 | c.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 |
4 | g.183289503T>G | CA358846051 | WWC2 | c.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) | |
4 | g.183289503T= | CA1518546730 | WWC2 | c.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=) | |
4 | g.183289504del | CA2672776333 | WWC2 | c.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 |
4 | g.183289504G>A | CA358846054 | WWC2 | c.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) | |
4 | g.183289504G>C | CA358846055 | WWC2 | c.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 |
4 | g.183289504G>T | CA358846057 | WWC2 | c.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) | |
4 | g.183289505A= | CA1518546731 | WWC2 | c.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=) | |
4 | g.183289505A>C | CA358846059 | WWC2 | c.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) | |
4 | g.183289505A>G | CA358846060 | WWC2 | c.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 |
4 | g.183289505A>T | CA358846062 | WWC2 | c.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) | |
4 | g.183289506T>A | CA358846064 | WWC2 | c.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) | |
4 | g.183289506T>C | CA442557644 | WWC2 | c.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=) | |
4 | g.183289506T>G | CA358846066 | WWC2 | c.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) | |
4 | g.183289507G>A | CA358846068 | WWC2 | c.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) | |
4 | g.183289507G>C | CA358846070 | WWC2 | c.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) | |
4 | g.183289507G>T | CA358846072 | WWC2 | c.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) | |
4 | g.183289508A>C | CA358846078 | WWC2 | c.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 |
4 | g.183289508A>G | CA358846076 | WWC2 | c.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) | |
4 | g.183289508A>T | CA358846074 | WWC2 | c.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) | |
4 | g.183289509G>A | CA442557645 | WWC2 | c.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 |
4 | g.183289509G>C | CA358846079 | WWC2 | c.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) | |
4 | g.183289509G= | CA1518546732 | WWC2 | c.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=) | |
4 | g.183289509G>T | CA358846080 | WWC2 | c.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) | |
4 | g.183289510C>A | CA358846083 | WWC2 | c.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) | |
4 | g.183289510C>G | CA358846084 | WWC2 | c.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) | |
4 | g.183289510C>T | CA442557646 | WWC2 | c.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=) | |
4 | g.183289511T>A | CA358846087 | WWC2 | c.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) | |
4 | g.183289511T>C | CA204220 | WWC2 | c.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 |
4 | g.183289511T>G | CA358846090 | WWC2 | c.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) | |
4 | g.183289511T= | CA1518546733 | WWC2 | c.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=) | |
4 | g.183289512G>A | CA442557647 | WWC2 | c.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=) | |
4 | g.183289512G>C | CA442557648 | WWC2 | c.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=) | |
4 | g.183289512G>T | CA442557649 | WWC2 | c.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=) | |
4 | g.183289513C>A | CA358846092 | WWC2 | c.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) | |
4 | g.183289513C>G | CA358846094 | WWC2 | c.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) | |
4 | g.183289513C>T | CA358846096 | WWC2 | c.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) | |
4 | g.183289514A= | CA1518546734 | WWC2 | c.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=) | |
4 | g.183289514A>C | CA358846098 | WWC2 | c.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) | |
4 | g.183289514A>G | CA358846100 | WWC2 | c.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) | |
4 | g.183289514A>T | CA358846102 | WWC2 | c.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 |
4 | g.183289515G>A | CA442557650 | WWC2 | c.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 |
4 | g.183289515G>C | CA358846106 | WWC2 | c.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) | |
4 | g.183289515G>T | CA358846105 | WWC2 | c.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) | |
4 | g.183289516dup | CA2672776334 | WWC2 | c.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 |
4 | g.183289516G>A | CA358846110 | WWC2 | c.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) | |
4 | g.183289516G>C | CA358846113 | WWC2 | c.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) | |
4 | g.183289516G>T | CA358846111 | WWC2 | c.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) | |
4 | g.183289517C>A | CA358846115 | WWC2 | c.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) | |
4 | g.183289517C= | CA1518546735 | WWC2 | c.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=) | |
4 | g.183289517C>G | CA358846118 | WWC2 | c.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) | |
4 | g.183289517C>T | CA3150313 | WWC2 | c.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 |
4 | g.183289518G>A | CA3150314 | WWC2 | c.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 |
4 | g.183289518G>C | CA442557651 | WWC2 | c.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 |
4 | g.183289518G= | CA1518546736 | WWC2 | c.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=) | |
4 | g.183289518G>T | CA442557652 | WWC2 | c.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 |
4 | g.183289519C>A | CA358846123 | WWC2 | c.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) | |
4 | g.183289519C>G | CA358846121 | WWC2 | c.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) | |
4 | g.183289519C>T | CA442557653 | WWC2 | c.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=) | |
4 | g.183289520T>A | CA358846125 | WWC2 | c.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) | |
4 | g.183289520T>C | CA358846126 | WWC2 | c.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 |
4 | g.183289520T>G | CA358846128 | WWC2 | c.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) | |
4 | g.183289520T= | CA1518546737 | WWC2 | c.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=) | |
4 | g.183289521G>A | CA442557654 | WWC2 | c.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=) | |
4 | g.183289521G>C | CA442557655 | WWC2 | c.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=) | |
4 | g.183289521G= | CA1518546738 | WWC2 | c.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=) | |
4 | g.183289521G>T | CA442557656 | WWC2 | c.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 |
4 | g.183289522A>C | CA442557657 | WWC2 | c.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=) | |
4 | g.183289522A>G | CA358846131 | WWC2 | c.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) | |
4 | g.183289522A>T | CA358846132 | WWC2 | c.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) | |
4 | g.183289523G>A | CA358846135 | WWC2 | c.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) | |
4 | g.183289523G>C | CA358846136 | WWC2 | c.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) | |
4 | g.183289523G>T | CA358846138 | WWC2 | c.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) | |
4 | g.183289524G>A | CA442557658 | WWC2 | c.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 |
4 | g.183289524G>C | CA358846140 | WWC2 | c.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 |
4 | g.183289524G>T | CA358846142 | WWC2 | c.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) | |
4 | g.183289525G>A | CA358846148 | WWC2 | c.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 |
4 | g.183289525G>C | CA358846144 | WWC2 | c.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) | |
4 | g.183289525G>T | CA358846146 | WWC2 | c.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) | |
4 | g.183289526A= | CA1518546739 | WWC2 | c.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=) | |
4 | g.183289526A>C | CA358846150 | WWC2 | c.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) | |
4 | g.183289526A>G | CA358846152 | WWC2 | c.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 |
4 | g.183289526A>T | CA358846154 | WWC2 | c.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) | |
4 | g.183289527C>A | CA358846156 | WWC2 | c.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) | |
4 | g.183289527C>G | CA358846158 | WWC2 | c.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) | |
4 | g.183289527C>T | CA442557659 | WWC2 | c.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=) | |
4 | g.183289528T>A | CA358846159 | WWC2 | c.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) | |
4 | g.183289528T>C | CA442557660 | WWC2 | c.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=) | |
4 | g.183289528T>G | CA358846161 | WWC2 | c.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) | |
4 | g.183289529T>A | CA358846163 | WWC2 | c.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) | |
4 | g.183289529T>C | CA358846165 | WWC2 | c.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 |
4 | g.183289529T>G | CA358846166 | WWC2 | c.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) | |
4 | g.183289529T= | CA1518546740 | WWC2 | c.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=) | |
4 | g.183289530G>A | CA442557661 | WWC2 | c.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 |
4 | g.183289530G>C | CA358846170 | WWC2 | c.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) | |
4 | g.183289530G= | CA1518546741 | WWC2 | c.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=) | |
4 | g.183289530G>T | CA358846168 | WWC2 | c.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 |
4 | g.183289530dup | CA3150315 | WWC2 | c.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 |
4 | g.183289531C>A | CA442557662 | WWC2 | c.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=) | |
4 | g.183289531C= | CA1518546742 | WWC2 | c.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=) | |
4 | g.183289531C>G | CA3150316 | WWC2 | c.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 |
4 | g.183289531C>T | CA3150317 | WWC2 | c.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 |
4 | g.183289532G>A | CA3150318 | WWC2 | c.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 |
4 | g.183289532G>C | CA358846176 | WWC2 | c.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) | |
4 | g.183289532G= | CA1518546743 | WWC2 | c.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=) | |
4 | g.183289532G>T | CA358846177 | WWC2 | c.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 |
4 | g.183289533G>A | CA3150319 | WWC2 | c.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 |
4 | g.183289533G>C | CA442557664 | WWC2 | c.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=) | |
4 | g.183289533G= | CA1518546744 | WWC2 | c.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=) | |
4 | g.183289533G>T | CA442557663 | WWC2 | c.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=) | |
4 | g.183289534C>A | CA358846181 | WWC2 | c.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) | |
4 | g.183289534C>G | CA358846183 | WWC2 | c.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) | |
4 | g.183289534C>T | CA358846184 | WWC2 | c.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 |
4 | g.183289535A>C | CA358846187 | WWC2 | c.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) | |
4 | g.183289535A>G | CA358846189 | WWC2 | c.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) | |
4 | g.183289535A>T | CA358846190 | WWC2 | c.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) | |
4 | g.183289536G>A | CA442557665 | WWC2 | c.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=) | |
4 | g.183289536G>C | CA358846195 | WWC2 | c.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) | |
4 | g.183289536G>T | CA358846193 | WWC2 | c.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) | |
4 | g.183289537A= | CA1518546745 | WWC2 | c.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=) | |
4 | g.183289537A>C | CA358846197 | WWC2 | c.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) | |
4 | g.183289537A>G | CA358846198 | WWC2 | c.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 |
4 | g.183289537A>T | CA358846200 | WWC2 | c.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) | |
4 | g.183289538A>C | CA358846203 | WWC2 | c.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 |
4 | g.183289538A>G | CA358846204 | WWC2 | c.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) | |
4 | g.183289538A>T | CA358846206 | WWC2 | c.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) | |
4 | g.183289539G>A | CA442557666 | WWC2 | c.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 |
4 | g.183289539G>C | CA358846208 | WWC2 | c.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) | |
4 | g.183289539G>T | CA358846210 | WWC2 | c.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) | |
4 | g.183289540C>A | CA358846212 | WWC2 | c.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) | |
4 | g.183289540C>G | CA358846214 | WWC2 | c.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 |
4 | g.183289540C>T | CA442557667 | WWC2 | c.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=) | |
4 | g.183289541T>A | CA358846216 | WWC2 | c.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) | |
4 | g.183289541T>C | CA358846218 | WWC2 | c.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) | |
4 | g.183289541T>G | CA358846220 | WWC2 | c.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) | |
4 | g.183289542G>A | CA442557668 | WWC2 | c.3291G>A (p.Leu1097=) c.*2683G>A (n.*2683G>A) c.*1087G>A (n.*1087G>A) c.3363G>A (p.Leu1121=) c.2337G>A (p.Leu779=) c.675G>A (p.Leu225=) c.3144G>A (p.Leu1048=) c.3069G>A (p.Leu1023=) | |
4 | g.183289542G>C | CA442557669 | WWC2 | c.3291G>C (p.Leu1097=) c.*2683G>C (n.*2683G>C) c.*1087G>C (n.*1087G>C) c.3363G>C (p.Leu1121=) c.2337G>C (p.Leu779=) c.675G>C (p.Leu225=) c.3144G>C (p.Leu1048=) c.3069G>C (p.Leu1023=) | |
4 | g.183289542G>T | CA442557670 | WWC2 | c.3291G>T (p.Leu1097=) c.*2683G>T (n.*2683G>T) c.*1087G>T (n.*1087G>T) c.3363G>T (p.Leu1121=) c.2337G>T (p.Leu779=) c.675G>T (p.Leu225=) c.3144G>T (p.Leu1048=) c.3069G>T (p.Leu1023=) | |
4 | g.183289543G>A | CA358846225 | WWC2 | c.3292G>A (p.Glu1098Lys) c.*2684G>A (n.*2684G>A) c.*1088G>A (n.*1088G>A) c.3364G>A (p.Glu1122Lys) c.2338G>A (p.Glu780Lys) c.676G>A (p.Glu226Lys) c.3145G>A (p.Glu1049Lys) c.3070G>A (p.Glu1024Lys) | |
4 | g.183289543G>C | CA358846224 | WWC2 | c.3292G>C (p.Glu1098Gln) c.*2684G>C (n.*2684G>C) c.*1088G>C (n.*1088G>C) c.3364G>C (p.Glu1122Gln) c.2338G>C (p.Glu780Gln) c.676G>C (p.Glu226Gln) c.3145G>C (p.Glu1049Gln) c.3070G>C (p.Glu1024Gln) | |
4 | g.183289543G>T | CA358846222 | WWC2 | c.3292G>T (p.Glu1098Ter) c.*2684G>T (n.*2684G>T) c.*1088G>T (n.*1088G>T) c.3364G>T (p.Glu1122Ter) c.2338G>T (p.Glu780Ter) c.676G>T (p.Glu226Ter) c.3145G>T (p.Glu1049Ter) c.3070G>T (p.Glu1024Ter) |