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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 4 | g.183289544A>C | CA358846227 | WWC2 | c.3293A>C (p.Glu1098Ala) c.*2685A>C (n.*2685A>C) c.*1089A>C (n.*1089A>C) c.3365A>C (p.Glu1122Ala) c.2339A>C (p.Glu780Ala) c.677A>C (p.Glu226Ala) c.3146A>C (p.Glu1049Ala) c.3071A>C (p.Glu1024Ala) | |
| 4 | g.183289544A>G | CA358846231 | WWC2 | c.3293A>G (p.Glu1098Gly) c.*2685A>G (n.*2685A>G) c.*1089A>G (n.*1089A>G) c.3365A>G (p.Glu1122Gly) c.2339A>G (p.Glu780Gly) c.677A>G (p.Glu226Gly) c.3146A>G (p.Glu1049Gly) c.3071A>G (p.Glu1024Gly) | |
| 4 | g.183289544A>T | CA358846229 | WWC2 | c.3293A>T (p.Glu1098Val) c.*2685A>T (n.*2685A>T) c.*1089A>T (n.*1089A>T) c.3365A>T (p.Glu1122Val) c.2339A>T (p.Glu780Val) c.677A>T (p.Glu226Val) c.3146A>T (p.Glu1049Val) c.3071A>T (p.Glu1024Val) | |
| 4 | g.183289545G>A | CA3150320 | WWC2 | c.3294G>A (p.Glu1098=) c.*2686G>A (n.*2686G>A) c.*1090G>A (n.*1090G>A) c.3366G>A (p.Glu1122=) c.2340G>A (p.Glu780=) c.678G>A (p.Glu226=) c.3147G>A (p.Glu1049=) c.3072G>A (p.Glu1024=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289545G>C | CA358846234 | WWC2 | c.3294G>C (p.Glu1098Asp) c.*2686G>C (n.*2686G>C) c.*1090G>C (n.*1090G>C) c.3366G>C (p.Glu1122Asp) c.2340G>C (p.Glu780Asp) c.678G>C (p.Glu226Asp) c.3147G>C (p.Glu1049Asp) c.3072G>C (p.Glu1024Asp) | |
| 4 | g.183289545G= | CA1518546746 | WWC2 | c.3294G= (p.Glu1098=) c.*2686G= (n.*2686G=) c.*1090G= (n.*1090G=) c.3366G= (p.Glu1122=) c.2340G= (p.Glu780=) c.678G= (p.Glu226=) c.3147G= (p.Glu1049=) c.3072G= (p.Glu1024=) | |
| 4 | g.183289545G>T | CA358846236 | WWC2 | c.3294G>T (p.Glu1098Asp) c.*2686G>T (n.*2686G>T) c.*1090G>T (n.*1090G>T) c.3366G>T (p.Glu1122Asp) c.2340G>T (p.Glu780Asp) c.678G>T (p.Glu226Asp) c.3147G>T (p.Glu1049Asp) c.3072G>T (p.Glu1024Asp) | gnomAD v4 |
| 4 | g.183289546G>A | CA358846239 | WWC2 | c.3295G>A (p.Glu1099Lys) c.*2687G>A (n.*2687G>A) c.*1091G>A (n.*1091G>A) c.3367G>A (p.Glu1123Lys) c.2341G>A (p.Glu781Lys) c.679G>A (p.Glu227Lys) c.3148G>A (p.Glu1050Lys) c.3073G>A (p.Glu1025Lys) | dbSNP |
| 4 | g.183289546G>C | CA358846240 | WWC2 | c.3295G>C (p.Glu1099Gln) c.*2687G>C (n.*2687G>C) c.*1091G>C (n.*1091G>C) c.3367G>C (p.Glu1123Gln) c.2341G>C (p.Glu781Gln) c.679G>C (p.Glu227Gln) c.3148G>C (p.Glu1050Gln) c.3073G>C (p.Glu1025Gln) | |
| 4 | g.183289546G= | CA1518546747 | WWC2 | c.3295G= (p.Glu1099=) c.*2687G= (n.*2687G=) c.*1091G= (n.*1091G=) c.3367G= (p.Glu1123=) c.2341G= (p.Glu781=) c.679G= (p.Glu227=) c.3148G= (p.Glu1050=) c.3073G= (p.Glu1025=) | |
| 4 | g.183289546G>T | CA358846242 | WWC2 | c.3295G>T (p.Glu1099Ter) c.*2687G>T (n.*2687G>T) c.*1091G>T (n.*1091G>T) c.3367G>T (p.Glu1123Ter) c.2341G>T (p.Glu781Ter) c.679G>T (p.Glu227Ter) c.3148G>T (p.Glu1050Ter) c.3073G>T (p.Glu1025Ter) | |
| 4 | g.183289547A>C | CA358846244 | WWC2 | c.3296A>C (p.Glu1099Ala) c.*2688A>C (n.*2688A>C) c.*1092A>C (n.*1092A>C) c.3368A>C (p.Glu1123Ala) c.2342A>C (p.Glu781Ala) c.680A>C (p.Glu227Ala) c.3149A>C (p.Glu1050Ala) c.3074A>C (p.Glu1025Ala) | |
| 4 | g.183289547A>G | CA358846245 | WWC2 | c.3296A>G (p.Glu1099Gly) c.*2688A>G (n.*2688A>G) c.*1092A>G (n.*1092A>G) c.3368A>G (p.Glu1123Gly) c.2342A>G (p.Glu781Gly) c.680A>G (p.Glu227Gly) c.3149A>G (p.Glu1050Gly) c.3074A>G (p.Glu1025Gly) | |
| 4 | g.183289547A>T | CA358846247 | WWC2 | c.3296A>T (p.Glu1099Val) c.*2688A>T (n.*2688A>T) c.*1092A>T (n.*1092A>T) c.3368A>T (p.Glu1123Val) c.2342A>T (p.Glu781Val) c.680A>T (p.Glu227Val) c.3149A>T (p.Glu1050Val) c.3074A>T (p.Glu1025Val) | |
| 4 | g.183289548A>C | CA358846248 | WWC2 | c.3297A>C (p.Glu1099Asp) c.*2689A>C (n.*2689A>C) c.*1093A>C (n.*1093A>C) c.3369A>C (p.Glu1123Asp) c.2343A>C (p.Glu781Asp) c.681A>C (p.Glu227Asp) c.3150A>C (p.Glu1050Asp) c.3075A>C (p.Glu1025Asp) | |
| 4 | g.183289548A>G | CA442557671 | WWC2 | c.3297A>G (p.Glu1099=) c.*2689A>G (n.*2689A>G) c.*1093A>G (n.*1093A>G) c.3369A>G (p.Glu1123=) c.2343A>G (p.Glu781=) c.681A>G (p.Glu227=) c.3150A>G (p.Glu1050=) c.3075A>G (p.Glu1025=) | |
| 4 | g.183289548A>T | CA358846249 | WWC2 | c.3297A>T (p.Glu1099Asp) c.*2689A>T (n.*2689A>T) c.*1093A>T (n.*1093A>T) c.3369A>T (p.Glu1123Asp) c.2343A>T (p.Glu781Asp) c.681A>T (p.Glu227Asp) c.3150A>T (p.Glu1050Asp) c.3075A>T (p.Glu1025Asp) | |
| 4 | g.183289549C>A | CA358846250 | WWC2 | c.3298C>A (p.Leu1100Met) c.*2690C>A (n.*2690C>A) c.*1094C>A (n.*1094C>A) c.3370C>A (p.Leu1124Met) c.2344C>A (p.Leu782Met) c.682C>A (p.Leu228Met) c.3151C>A (p.Leu1051Met) c.3076C>A (p.Leu1026Met) | |
| 4 | g.183289549C>G | CA358846251 | WWC2 | c.3298C>G (p.Leu1100Val) c.*2690C>G (n.*2690C>G) c.*1094C>G (n.*1094C>G) c.3370C>G (p.Leu1124Val) c.2344C>G (p.Leu782Val) c.682C>G (p.Leu228Val) c.3151C>G (p.Leu1051Val) c.3076C>G (p.Leu1026Val) | |
| 4 | g.183289549C>T | CA442557672 | WWC2 | c.3298C>T (p.Leu1100=) c.*2690C>T (n.*2690C>T) c.*1094C>T (n.*1094C>T) c.3370C>T (p.Leu1124=) c.2344C>T (p.Leu782=) c.682C>T (p.Leu228=) c.3151C>T (p.Leu1051=) c.3076C>T (p.Leu1026=) | |
| 4 | g.183289550T>A | CA358846252 | WWC2 | c.3299T>A (p.Leu1100Gln) c.*2691T>A (n.*2691T>A) c.*1095T>A (n.*1095T>A) c.3371T>A (p.Leu1124Gln) c.2345T>A (p.Leu782Gln) c.683T>A (p.Leu228Gln) c.3152T>A (p.Leu1051Gln) c.3077T>A (p.Leu1026Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289550T>C | CA358846254 | WWC2 | c.3299T>C (p.Leu1100Pro) c.*2691T>C (n.*2691T>C) c.*1095T>C (n.*1095T>C) c.3371T>C (p.Leu1124Pro) c.2345T>C (p.Leu782Pro) c.683T>C (p.Leu228Pro) c.3152T>C (p.Leu1051Pro) c.3077T>C (p.Leu1026Pro) | |
| 4 | g.183289550T>G | CA358846253 | WWC2 | c.3299T>G (p.Leu1100Arg) c.*2691T>G (n.*2691T>G) c.*1095T>G (n.*1095T>G) c.3371T>G (p.Leu1124Arg) c.2345T>G (p.Leu782Arg) c.683T>G (p.Leu228Arg) c.3152T>G (p.Leu1051Arg) c.3077T>G (p.Leu1026Arg) | |
| 4 | g.183289550T= | CA1518546748 | WWC2 | c.3299T= (p.Leu1100=) c.*2691T= (n.*2691T=) c.*1095T= (n.*1095T=) c.3371T= (p.Leu1124=) c.2345T= (p.Leu782=) c.683T= (p.Leu228=) c.3152T= (p.Leu1051=) c.3077T= (p.Leu1026=) | |
| 4 | g.183289551G>A | CA442557675 | WWC2 | c.3300G>A (p.Leu1100=) c.*2692G>A (n.*2692G>A) c.*1096G>A (n.*1096G>A) c.3372G>A (p.Leu1124=) c.2346G>A (p.Leu782=) c.684G>A (p.Leu228=) c.3153G>A (p.Leu1051=) c.3078G>A (p.Leu1026=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289551G>C | CA442557674 | WWC2 | c.3300G>C (p.Leu1100=) c.*2692G>C (n.*2692G>C) c.*1096G>C (n.*1096G>C) c.3372G>C (p.Leu1124=) c.2346G>C (p.Leu782=) c.684G>C (p.Leu228=) c.3153G>C (p.Leu1051=) c.3078G>C (p.Leu1026=) | |
| 4 | g.183289551G= | CA1518546749 | WWC2 | c.3300G= (p.Leu1100=) c.*2692G= (n.*2692G=) c.*1096G= (n.*1096G=) c.3372G= (p.Leu1124=) c.2346G= (p.Leu782=) c.684G= (p.Leu228=) c.3153G= (p.Leu1051=) c.3078G= (p.Leu1026=) | |
| 4 | g.183289551G>T | CA442557673 | WWC2 | c.3300G>T (p.Leu1100=) c.*2692G>T (n.*2692G>T) c.*1096G>T (n.*1096G>T) c.3372G>T (p.Leu1124=) c.2346G>T (p.Leu782=) c.684G>T (p.Leu228=) c.3153G>T (p.Leu1051=) c.3078G>T (p.Leu1026=) | |
| 4 | g.183289552A>C | CA358846255 | WWC2 | c.3301A>C (p.Lys1101Gln) c.*2693A>C (n.*2693A>C) c.*1097A>C (n.*1097A>C) c.3373A>C (p.Lys1125Gln) c.2347A>C (p.Lys783Gln) c.685A>C (p.Lys229Gln) c.3154A>C (p.Lys1052Gln) c.3079A>C (p.Lys1027Gln) | |
| 4 | g.183289552A>G | CA358846256 | WWC2 | c.3301A>G (p.Lys1101Glu) c.*2693A>G (n.*2693A>G) c.*1097A>G (n.*1097A>G) c.3373A>G (p.Lys1125Glu) c.2347A>G (p.Lys783Glu) c.685A>G (p.Lys229Glu) c.3154A>G (p.Lys1052Glu) c.3079A>G (p.Lys1027Glu) | |
| 4 | g.183289552A>T | CA358846257 | WWC2 | c.3301A>T (p.Lys1101Ter) c.*2693A>T (n.*2693A>T) c.*1097A>T (n.*1097A>T) c.3373A>T (p.Lys1125Ter) c.2347A>T (p.Lys783Ter) c.685A>T (p.Lys229Ter) c.3154A>T (p.Lys1052Ter) c.3079A>T (p.Lys1027Ter) | |
| 4 | g.183289553A>C | CA358846258 | WWC2 | c.3302A>C (p.Lys1101Thr) c.*2694A>C (n.*2694A>C) c.*1098A>C (n.*1098A>C) c.3374A>C (p.Lys1125Thr) c.2348A>C (p.Lys783Thr) c.686A>C (p.Lys229Thr) c.3155A>C (p.Lys1052Thr) c.3080A>C (p.Lys1027Thr) | |
| 4 | g.183289553A>G | CA358846259 | WWC2 | c.3302A>G (p.Lys1101Arg) c.*2694A>G (n.*2694A>G) c.*1098A>G (n.*1098A>G) c.3374A>G (p.Lys1125Arg) c.2348A>G (p.Lys783Arg) c.686A>G (p.Lys229Arg) c.3155A>G (p.Lys1052Arg) c.3080A>G (p.Lys1027Arg) | |
| 4 | g.183289553A>T | CA358846260 | WWC2 | c.3302A>T (p.Lys1101Ile) c.*2694A>T (n.*2694A>T) c.*1098A>T (n.*1098A>T) c.3374A>T (p.Lys1125Ile) c.2348A>T (p.Lys783Ile) c.686A>T (p.Lys229Ile) c.3155A>T (p.Lys1052Ile) c.3080A>T (p.Lys1027Ile) | |
| 4 | g.183289554A= | CA1518546750 | WWC2 | c.3303A= (p.Lys1101=) c.*2695A= (n.*2695A=) c.*1099A= (n.*1099A=) c.3375A= (p.Lys1125=) c.2349A= (p.Lys783=) c.687A= (p.Lys229=) c.3156A= (p.Lys1052=) c.3081A= (p.Lys1027=) | |
| 4 | g.183289554A>C | CA358846261 | WWC2 | c.3303A>C (p.Lys1101Asn) c.*2695A>C (n.*2695A>C) c.*1099A>C (n.*1099A>C) c.3375A>C (p.Lys1125Asn) c.2349A>C (p.Lys783Asn) c.687A>C (p.Lys229Asn) c.3156A>C (p.Lys1052Asn) c.3081A>C (p.Lys1027Asn) | |
| 4 | g.183289554A>G | CA3150321 | WWC2 | c.3303A>G (p.Lys1101=) c.*2695A>G (n.*2695A>G) c.*1099A>G (n.*1099A>G) c.3375A>G (p.Lys1125=) c.2349A>G (p.Lys783=) c.687A>G (p.Lys229=) c.3156A>G (p.Lys1052=) c.3081A>G (p.Lys1027=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289554A>T | CA358846262 | WWC2 | c.3303A>T (p.Lys1101Asn) c.*2695A>T (n.*2695A>T) c.*1099A>T (n.*1099A>T) c.3375A>T (p.Lys1125Asn) c.2349A>T (p.Lys783Asn) c.687A>T (p.Lys229Asn) c.3156A>T (p.Lys1052Asn) c.3081A>T (p.Lys1027Asn) | |
| 4 | g.183289555G>A | CA358846265 | WWC2 | c.3304G>A (p.Ala1102Thr) c.*2696G>A (n.*2696G>A) c.*1100G>A (n.*1100G>A) c.3376G>A (p.Ala1126Thr) c.2350G>A (p.Ala784Thr) c.688G>A (p.Ala230Thr) c.3157G>A (p.Ala1053Thr) c.3082G>A (p.Ala1028Thr) | |
| 4 | g.183289555G>C | CA358846264 | WWC2 | c.3304G>C (p.Ala1102Pro) c.*2696G>C (n.*2696G>C) c.*1100G>C (n.*1100G>C) c.3376G>C (p.Ala1126Pro) c.2350G>C (p.Ala784Pro) c.688G>C (p.Ala230Pro) c.3157G>C (p.Ala1053Pro) c.3082G>C (p.Ala1028Pro) | |
| 4 | g.183289555G>T | CA358846263 | WWC2 | c.3304G>T (p.Ala1102Ser) c.*2696G>T (n.*2696G>T) c.*1100G>T (n.*1100G>T) c.3376G>T (p.Ala1126Ser) c.2350G>T (p.Ala784Ser) c.688G>T (p.Ala230Ser) c.3157G>T (p.Ala1053Ser) c.3082G>T (p.Ala1028Ser) | |
| 4 | g.183289556C>A | CA358846266 | WWC2 | c.3305C>A (p.Ala1102Asp) c.*2697C>A (n.*2697C>A) c.*1101C>A (n.*1101C>A) c.3377C>A (p.Ala1126Asp) c.2351C>A (p.Ala784Asp) c.689C>A (p.Ala230Asp) c.3158C>A (p.Ala1053Asp) c.3083C>A (p.Ala1028Asp) | |
| 4 | g.183289556C>G | CA358846267 | WWC2 | c.3305C>G (p.Ala1102Gly) c.*2697C>G (n.*2697C>G) c.*1101C>G (n.*1101C>G) c.3377C>G (p.Ala1126Gly) c.2351C>G (p.Ala784Gly) c.689C>G (p.Ala230Gly) c.3158C>G (p.Ala1053Gly) c.3083C>G (p.Ala1028Gly) | |
| 4 | g.183289556C>T | CA358846268 | WWC2 | c.3305C>T (p.Ala1102Val) c.*2697C>T (n.*2697C>T) c.*1101C>T (n.*1101C>T) c.3377C>T (p.Ala1126Val) c.2351C>T (p.Ala784Val) c.689C>T (p.Ala230Val) c.3158C>T (p.Ala1053Val) c.3083C>T (p.Ala1028Val) | gnomAD v4 |
| 4 | g.183289557T>A | CA442557676 | WWC2 | c.3306T>A (p.Ala1102=) c.*2698T>A (n.*2698T>A) c.*1102T>A (n.*1102T>A) c.3378T>A (p.Ala1126=) c.2352T>A (p.Ala784=) c.690T>A (p.Ala230=) c.3159T>A (p.Ala1053=) c.3084T>A (p.Ala1028=) | |
| 4 | g.183289557T>C | CA442557677 | WWC2 | c.3306T>C (p.Ala1102=) c.*2698T>C (n.*2698T>C) c.*1102T>C (n.*1102T>C) c.3378T>C (p.Ala1126=) c.2352T>C (p.Ala784=) c.690T>C (p.Ala230=) c.3159T>C (p.Ala1053=) c.3084T>C (p.Ala1028=) | |
| 4 | g.183289557T>G | CA442557678 | WWC2 | c.3306T>G (p.Ala1102=) c.*2698T>G (n.*2698T>G) c.*1102T>G (n.*1102T>G) c.3378T>G (p.Ala1126=) c.2352T>G (p.Ala784=) c.690T>G (p.Ala230=) c.3159T>G (p.Ala1053=) c.3084T>G (p.Ala1028=) | |
| 4 | g.183289558C>A | CA358846269 | WWC2 | c.3307C>A (p.Gln1103Lys) c.*2699C>A (n.*2699C>A) c.*1103C>A (n.*1103C>A) c.3379C>A (p.Gln1127Lys) c.2353C>A (p.Gln785Lys) c.691C>A (p.Gln231Lys) c.3160C>A (p.Gln1054Lys) c.3085C>A (p.Gln1029Lys) | |
| 4 | g.183289558C>G | CA358846270 | WWC2 | c.3307C>G (p.Gln1103Glu) c.*2699C>G (n.*2699C>G) c.*1103C>G (n.*1103C>G) c.3379C>G (p.Gln1127Glu) c.2353C>G (p.Gln785Glu) c.691C>G (p.Gln231Glu) c.3160C>G (p.Gln1054Glu) c.3085C>G (p.Gln1029Glu) | |
| 4 | g.183289558C>T | CA358846271 | WWC2 | c.3307C>T (p.Gln1103Ter) c.*2699C>T (n.*2699C>T) c.*1103C>T (n.*1103C>T) c.3379C>T (p.Gln1127Ter) c.2353C>T (p.Gln785Ter) c.691C>T (p.Gln231Ter) c.3160C>T (p.Gln1054Ter) c.3085C>T (p.Gln1029Ter) | |
| 4 | g.183289559A>C | CA358846274 | WWC2 | c.3308A>C (p.Gln1103Pro) c.*2700A>C (n.*2700A>C) c.*1104A>C (n.*1104A>C) c.3380A>C (p.Gln1127Pro) c.2354A>C (p.Gln785Pro) c.692A>C (p.Gln231Pro) c.3161A>C (p.Gln1054Pro) c.3086A>C (p.Gln1029Pro) | gnomAD v4 |
| 4 | g.183289559A>G | CA358846272 | WWC2 | c.3308A>G (p.Gln1103Arg) c.*2700A>G (n.*2700A>G) c.*1104A>G (n.*1104A>G) c.3380A>G (p.Gln1127Arg) c.2354A>G (p.Gln785Arg) c.692A>G (p.Gln231Arg) c.3161A>G (p.Gln1054Arg) c.3086A>G (p.Gln1029Arg) | |
| 4 | g.183289559A>T | CA358846273 | WWC2 | c.3308A>T (p.Gln1103Leu) c.*2700A>T (n.*2700A>T) c.*1104A>T (n.*1104A>T) c.3380A>T (p.Gln1127Leu) c.2354A>T (p.Gln785Leu) c.692A>T (p.Gln231Leu) c.3161A>T (p.Gln1054Leu) c.3086A>T (p.Gln1029Leu) | |
| 4 | g.183289560G>A | CA442557679 | WWC2 | c.3309G>A (p.Gln1103=) c.*2701G>A (n.*2701G>A) c.*1105G>A (n.*1105G>A) c.3381G>A (p.Gln1127=) c.2355G>A (p.Gln785=) c.693G>A (p.Gln231=) c.3162G>A (p.Gln1054=) c.3087G>A (p.Gln1029=) | |
| 4 | g.183289560G>C | CA358846275 | WWC2 | c.3309G>C (p.Gln1103His) c.*2701G>C (n.*2701G>C) c.*1105G>C (n.*1105G>C) c.3381G>C (p.Gln1127His) c.2355G>C (p.Gln785His) c.693G>C (p.Gln231His) c.3162G>C (p.Gln1054His) c.3087G>C (p.Gln1029His) | gnomAD v4 |
| 4 | g.183289560G>T | CA358846276 | WWC2 | c.3309G>T (p.Gln1103His) c.*2701G>T (n.*2701G>T) c.*1105G>T (n.*1105G>T) c.3381G>T (p.Gln1127His) c.2355G>T (p.Gln785His) c.693G>T (p.Gln231His) c.3162G>T (p.Gln1054His) c.3087G>T (p.Gln1029His) | |
| 4 | g.183289561G>A | CA358846277 | WWC2 | c.3310G>A (p.Gly1104Arg) c.*2702G>A (n.*2702G>A) c.*1106G>A (n.*1106G>A) c.3382G>A (p.Gly1128Arg) c.2356G>A (p.Gly786Arg) c.694G>A (p.Gly232Arg) c.3163G>A (p.Gly1055Arg) c.3088G>A (p.Gly1030Arg) | |
| 4 | g.183289561G>C | CA358846278 | WWC2 | c.3310G>C (p.Gly1104Arg) c.*2702G>C (n.*2702G>C) c.*1106G>C (n.*1106G>C) c.3382G>C (p.Gly1128Arg) c.2356G>C (p.Gly786Arg) c.694G>C (p.Gly232Arg) c.3163G>C (p.Gly1055Arg) c.3088G>C (p.Gly1030Arg) | |
| 4 | g.183289561G>T | CA358846279 | WWC2 | c.3310G>T (p.Gly1104Ter) c.*2702G>T (n.*2702G>T) c.*1106G>T (n.*1106G>T) c.3382G>T (p.Gly1128Ter) c.2356G>T (p.Gly786Ter) c.694G>T (p.Gly232Ter) c.3163G>T (p.Gly1055Ter) c.3088G>T (p.Gly1030Ter) | |
| 4 | g.183289562G>A | CA358846280 | WWC2 | c.3311G>A (p.Gly1104Glu) c.*2703G>A (n.*2703G>A) c.*1107G>A (n.*1107G>A) c.3383G>A (p.Gly1128Glu) c.2357G>A (p.Gly786Glu) c.695G>A (p.Gly232Glu) c.3164G>A (p.Gly1055Glu) c.3089G>A (p.Gly1030Glu) | gnomAD v4 |
| 4 | g.183289562G>C | CA358846282 | WWC2 | c.3311G>C (p.Gly1104Ala) c.*2703G>C (n.*2703G>C) c.*1107G>C (n.*1107G>C) c.3383G>C (p.Gly1128Ala) c.2357G>C (p.Gly786Ala) c.695G>C (p.Gly232Ala) c.3164G>C (p.Gly1055Ala) c.3089G>C (p.Gly1030Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289562G= | CA1518546751 | WWC2 | c.3311G= (p.Gly1104=) c.*2703G= (n.*2703G=) c.*1107G= (n.*1107G=) c.3383G= (p.Gly1128=) c.2357G= (p.Gly786=) c.695G= (p.Gly232=) c.3164G= (p.Gly1055=) c.3089G= (p.Gly1030=) | |
| 4 | g.183289562G>T | CA358846281 | WWC2 | c.3311G>T (p.Gly1104Val) c.*2703G>T (n.*2703G>T) c.*1107G>T (n.*1107G>T) c.3383G>T (p.Gly1128Val) c.2357G>T (p.Gly786Val) c.695G>T (p.Gly232Val) c.3164G>T (p.Gly1055Val) c.3089G>T (p.Gly1030Val) | |
| 4 | g.183289563A>C | CA442557680 | WWC2 | c.3312A>C (p.Gly1104=) c.*2704A>C (n.*2704A>C) c.*1108A>C (n.*1108A>C) c.3384A>C (p.Gly1128=) c.2358A>C (p.Gly786=) c.696A>C (p.Gly232=) c.3165A>C (p.Gly1055=) c.3090A>C (p.Gly1030=) | |
| 4 | g.183289563A>G | CA442557681 | WWC2 | c.3312A>G (p.Gly1104=) c.*2704A>G (n.*2704A>G) c.*1108A>G (n.*1108A>G) c.3384A>G (p.Gly1128=) c.2358A>G (p.Gly786=) c.696A>G (p.Gly232=) c.3165A>G (p.Gly1055=) c.3090A>G (p.Gly1030=) | gnomAD v4 |
| 4 | g.183289563A>T | CA442557682 | WWC2 | c.3312A>T (p.Gly1104=) c.*2704A>T (n.*2704A>T) c.*1108A>T (n.*1108A>T) c.3384A>T (p.Gly1128=) c.2358A>T (p.Gly786=) c.696A>T (p.Gly232=) c.3165A>T (p.Gly1055=) c.3090A>T (p.Gly1030=) | |
| 4 | g.183289564G>A | CA358846283 | WWC2 | c.3313G>A (p.Glu1105Lys) c.*2705G>A (n.*2705G>A) c.*1109G>A (n.*1109G>A) c.3385G>A (p.Glu1129Lys) c.2359G>A (p.Glu787Lys) c.697G>A (p.Glu233Lys) c.3166G>A (p.Glu1056Lys) c.3091G>A (p.Glu1031Lys) | gnomAD v4 |
| 4 | g.183289564G>C | CA358846284 | WWC2 | c.3313G>C (p.Glu1105Gln) c.*2705G>C (n.*2705G>C) c.*1109G>C (n.*1109G>C) c.3385G>C (p.Glu1129Gln) c.2359G>C (p.Glu787Gln) c.697G>C (p.Glu233Gln) c.3166G>C (p.Glu1056Gln) c.3091G>C (p.Glu1031Gln) | |
| 4 | g.183289564G>T | CA358846285 | WWC2 | c.3313G>T (p.Glu1105Ter) c.*2705G>T (n.*2705G>T) c.*1109G>T (n.*1109G>T) c.3385G>T (p.Glu1129Ter) c.2359G>T (p.Glu787Ter) c.697G>T (p.Glu233Ter) c.3166G>T (p.Glu1056Ter) c.3091G>T (p.Glu1031Ter) | |
| 4 | g.183289565A>C | CA358846286 | WWC2 | c.3314A>C (p.Glu1105Ala) c.*2706A>C (n.*2706A>C) c.*1110A>C (n.*1110A>C) c.3386A>C (p.Glu1129Ala) c.2360A>C (p.Glu787Ala) c.698A>C (p.Glu233Ala) c.3167A>C (p.Glu1056Ala) c.3092A>C (p.Glu1031Ala) | |
| 4 | g.183289565A>G | CA358846287 | WWC2 | c.3314A>G (p.Glu1105Gly) c.*2706A>G (n.*2706A>G) c.*1110A>G (n.*1110A>G) c.3386A>G (p.Glu1129Gly) c.2360A>G (p.Glu787Gly) c.698A>G (p.Glu233Gly) c.3167A>G (p.Glu1056Gly) c.3092A>G (p.Glu1031Gly) | |
| 4 | g.183289565A>T | CA358846288 | WWC2 | c.3314A>T (p.Glu1105Val) c.*2706A>T (n.*2706A>T) c.*1110A>T (n.*1110A>T) c.3386A>T (p.Glu1129Val) c.2360A>T (p.Glu787Val) c.698A>T (p.Glu233Val) c.3167A>T (p.Glu1056Val) c.3092A>T (p.Glu1031Val) | |
| 4 | g.183289566G>A | CA442557683 | WWC2 | c.3315G>A (p.Glu1105=) c.*2707G>A (n.*2707G>A) c.*1111G>A (n.*1111G>A) c.3387G>A (p.Glu1129=) c.2361G>A (p.Glu787=) c.699G>A (p.Glu233=) c.3168G>A (p.Glu1056=) c.3093G>A (p.Glu1031=) | |
| 4 | g.183289566G>C | CA358846289 | WWC2 | c.3315G>C (p.Glu1105Asp) c.*2707G>C (n.*2707G>C) c.*1111G>C (n.*1111G>C) c.3387G>C (p.Glu1129Asp) c.2361G>C (p.Glu787Asp) c.699G>C (p.Glu233Asp) c.3168G>C (p.Glu1056Asp) c.3093G>C (p.Glu1031Asp) | |
| 4 | g.183289566G>T | CA358846290 | WWC2 | c.3315G>T (p.Glu1105Asp) c.*2707G>T (n.*2707G>T) c.*1111G>T (n.*1111G>T) c.3387G>T (p.Glu1129Asp) c.2361G>T (p.Glu787Asp) c.699G>T (p.Glu233Asp) c.3168G>T (p.Glu1056Asp) c.3093G>T (p.Glu1031Asp) | |
| 4 | g.183289567A= | CA1518546752 | WWC2 | c.3316A= (p.Thr1106=) c.*2708A= (n.*2708A=) c.*1112A= (n.*1112A=) c.3388A= (p.Thr1130=) c.2362A= (p.Thr788=) c.700A= (p.Thr234=) c.3169A= (p.Thr1057=) c.3094A= (p.Thr1032=) | |
| 4 | g.183289567A>C | CA111773569 | WWC2 | c.3316A>C (p.Thr1106Pro) c.*2708A>C (n.*2708A>C) c.*1112A>C (n.*1112A>C) c.3388A>C (p.Thr1130Pro) c.2362A>C (p.Thr788Pro) c.700A>C (p.Thr234Pro) c.3169A>C (p.Thr1057Pro) c.3094A>C (p.Thr1032Pro) | dbSNP |
| 4 | g.183289567A>G | CA358846291 | WWC2 | c.3316A>G (p.Thr1106Ala) c.*2708A>G (n.*2708A>G) c.*1112A>G (n.*1112A>G) c.3388A>G (p.Thr1130Ala) c.2362A>G (p.Thr788Ala) c.700A>G (p.Thr234Ala) c.3169A>G (p.Thr1057Ala) c.3094A>G (p.Thr1032Ala) | gnomAD v4 |
| 4 | g.183289567A>T | CA358846292 | WWC2 | c.3316A>T (p.Thr1106Ser) c.*2708A>T (n.*2708A>T) c.*1112A>T (n.*1112A>T) c.3388A>T (p.Thr1130Ser) c.2362A>T (p.Thr788Ser) c.700A>T (p.Thr234Ser) c.3169A>T (p.Thr1057Ser) c.3094A>T (p.Thr1032Ser) | |
| 4 | g.183289568C>A | CA358846294 | WWC2 | c.3317C>A (p.Thr1106Asn) c.*2709C>A (n.*2709C>A) c.*1113C>A (n.*1113C>A) c.3389C>A (p.Thr1130Asn) c.2363C>A (p.Thr788Asn) c.701C>A (p.Thr234Asn) c.3170C>A (p.Thr1057Asn) c.3095C>A (p.Thr1032Asn) | |
| 4 | g.183289568C= | CA1518546753 | WWC2 | c.3317C= (p.Thr1106=) c.*2709C= (n.*2709C=) c.*1113C= (n.*1113C=) c.3389C= (p.Thr1130=) c.2363C= (p.Thr788=) c.701C= (p.Thr234=) c.3170C= (p.Thr1057=) c.3095C= (p.Thr1032=) | |
| 4 | g.183289568C>G | CA358846295 | WWC2 | c.3317C>G (p.Thr1106Ser) c.*2709C>G (n.*2709C>G) c.*1113C>G (n.*1113C>G) c.3389C>G (p.Thr1130Ser) c.2363C>G (p.Thr788Ser) c.701C>G (p.Thr234Ser) c.3170C>G (p.Thr1057Ser) c.3095C>G (p.Thr1032Ser) | |
| 4 | g.183289568C>T | CA358846293 | WWC2 | c.3317C>T (p.Thr1106Ile) c.*2709C>T (n.*2709C>T) c.*1113C>T (n.*1113C>T) c.3389C>T (p.Thr1130Ile) c.2363C>T (p.Thr788Ile) c.701C>T (p.Thr234Ile) c.3170C>T (p.Thr1057Ile) c.3095C>T (p.Thr1032Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289569T>A | CA442557684 | WWC2 | c.3318T>A (p.Thr1106=) c.*2710T>A (n.*2710T>A) c.*1114T>A (n.*1114T>A) c.3390T>A (p.Thr1130=) c.2364T>A (p.Thr788=) c.702T>A (p.Thr234=) c.3171T>A (p.Thr1057=) c.3096T>A (p.Thr1032=) | |
| 4 | g.183289569T>C | CA442557686 | WWC2 | c.3318T>C (p.Thr1106=) c.*2710T>C (n.*2710T>C) c.*1114T>C (n.*1114T>C) c.3390T>C (p.Thr1130=) c.2364T>C (p.Thr788=) c.702T>C (p.Thr234=) c.3171T>C (p.Thr1057=) c.3096T>C (p.Thr1032=) | |
| 4 | g.183289569T>G | CA442557685 | WWC2 | c.3318T>G (p.Thr1106=) c.*2710T>G (n.*2710T>G) c.*1114T>G (n.*1114T>G) c.3390T>G (p.Thr1130=) c.2364T>G (p.Thr788=) c.702T>G (p.Thr234=) c.3171T>G (p.Thr1057=) c.3096T>G (p.Thr1032=) | |
| 4 | g.183289570G>A | CA3150322 | WWC2 | c.3319G>A (p.Asp1107Asn) c.*2711G>A (n.*2711G>A) c.*1115G>A (n.*1115G>A) c.3391G>A (p.Asp1131Asn) c.2365G>A (p.Asp789Asn) c.703G>A (p.Asp235Asn) c.3172G>A (p.Asp1058Asn) c.3097G>A (p.Asp1033Asn) | dbSNP ExAC gnomAD v2 |
| 4 | g.183289570G>C | CA358846296 | WWC2 | c.3319G>C (p.Asp1107His) c.*2711G>C (n.*2711G>C) c.*1115G>C (n.*1115G>C) c.3391G>C (p.Asp1131His) c.2365G>C (p.Asp789His) c.703G>C (p.Asp235His) c.3172G>C (p.Asp1058His) c.3097G>C (p.Asp1033His) | |
| 4 | g.183289570G= | CA1518546754 | WWC2 | c.3319G= (p.Asp1107=) c.*2711G= (n.*2711G=) c.*1115G= (n.*1115G=) c.3391G= (p.Asp1131=) c.2365G= (p.Asp789=) c.703G= (p.Asp235=) c.3172G= (p.Asp1058=) c.3097G= (p.Asp1033=) | |
| 4 | g.183289570G>T | CA358846297 | WWC2 | c.3319G>T (p.Asp1107Tyr) c.*2711G>T (n.*2711G>T) c.*1115G>T (n.*1115G>T) c.3391G>T (p.Asp1131Tyr) c.2365G>T (p.Asp789Tyr) c.703G>T (p.Asp235Tyr) c.3172G>T (p.Asp1058Tyr) c.3097G>T (p.Asp1033Tyr) | |
| 4 | g.183289571A>C | CA358846298 | WWC2 | c.3320A>C (p.Asp1107Ala) c.*2712A>C (n.*2712A>C) c.*1116A>C (n.*1116A>C) c.3392A>C (p.Asp1131Ala) c.2366A>C (p.Asp789Ala) c.704A>C (p.Asp235Ala) c.3173A>C (p.Asp1058Ala) c.3098A>C (p.Asp1033Ala) | |
| 4 | g.183289571A>G | CA358846299 | WWC2 | c.3320A>G (p.Asp1107Gly) c.*2712A>G (n.*2712A>G) c.*1116A>G (n.*1116A>G) c.3392A>G (p.Asp1131Gly) c.2366A>G (p.Asp789Gly) c.704A>G (p.Asp235Gly) c.3173A>G (p.Asp1058Gly) c.3098A>G (p.Asp1033Gly) | |
| 4 | g.183289571A>T | CA358846300 | WWC2 | c.3320A>T (p.Asp1107Val) c.*2712A>T (n.*2712A>T) c.*1116A>T (n.*1116A>T) c.3392A>T (p.Asp1131Val) c.2366A>T (p.Asp789Val) c.704A>T (p.Asp235Val) c.3173A>T (p.Asp1058Val) c.3098A>T (p.Asp1033Val) | |
| 4 | g.183289572C>A | CA358846301 | WWC2 | c.3321C>A (p.Asp1107Glu) c.*2713C>A (n.*2713C>A) c.*1117C>A (n.*1117C>A) c.3393C>A (p.Asp1131Glu) c.2367C>A (p.Asp789Glu) c.705C>A (p.Asp235Glu) c.3174C>A (p.Asp1058Glu) c.3099C>A (p.Asp1033Glu) | gnomAD v4 |
| 4 | g.183289572C= | CA1518546755 | WWC2 | c.3321C= (p.Asp1107=) c.*2713C= (n.*2713C=) c.*1117C= (n.*1117C=) c.3393C= (p.Asp1131=) c.2367C= (p.Asp789=) c.705C= (p.Asp235=) c.3174C= (p.Asp1058=) c.3099C= (p.Asp1033=) | |
| 4 | g.183289572C>G | CA358846302 | WWC2 | c.3321C>G (p.Asp1107Glu) c.*2713C>G (n.*2713C>G) c.*1117C>G (n.*1117C>G) c.3393C>G (p.Asp1131Glu) c.2367C>G (p.Asp789Glu) c.705C>G (p.Asp235Glu) c.3174C>G (p.Asp1058Glu) c.3099C>G (p.Asp1033Glu) | |
| 4 | g.183289572C>T | CA442557687 | WWC2 | c.3321C>T (p.Asp1107=) c.*2713C>T (n.*2713C>T) c.*1117C>T (n.*1117C>T) c.3393C>T (p.Asp1131=) c.2367C>T (p.Asp789=) c.705C>T (p.Asp235=) c.3174C>T (p.Asp1058=) c.3099C>T (p.Asp1033=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289573C>A | CA358846303 | WWC2 | c.3322C>A (p.Leu1108Ile) c.*2714C>A (n.*2714C>A) c.*1118C>A (n.*1118C>A) c.3394C>A (p.Leu1132Ile) c.2368C>A (p.Leu790Ile) c.706C>A (p.Leu236Ile) c.3175C>A (p.Leu1059Ile) c.3100C>A (p.Leu1034Ile) | |
| 4 | g.183289573C>G | CA358846304 | WWC2 | c.3322C>G (p.Leu1108Val) c.*2714C>G (n.*2714C>G) c.*1118C>G (n.*1118C>G) c.3394C>G (p.Leu1132Val) c.2368C>G (p.Leu790Val) c.706C>G (p.Leu236Val) c.3175C>G (p.Leu1059Val) c.3100C>G (p.Leu1034Val) | |
| 4 | g.183289573C>T | CA358846305 | WWC2 | c.3322C>T (p.Leu1108Phe) c.*2714C>T (n.*2714C>T) c.*1118C>T (n.*1118C>T) c.3394C>T (p.Leu1132Phe) c.2368C>T (p.Leu790Phe) c.706C>T (p.Leu236Phe) c.3175C>T (p.Leu1059Phe) c.3100C>T (p.Leu1034Phe) | |
| 4 | g.183289574T>A | CA358846306 | WWC2 | c.3323T>A (p.Leu1108His) c.*2715T>A (n.*2715T>A) c.*1119T>A (n.*1119T>A) c.3395T>A (p.Leu1132His) c.2369T>A (p.Leu790His) c.707T>A (p.Leu236His) c.3176T>A (p.Leu1059His) c.3101T>A (p.Leu1034His) | |
| 4 | g.183289574T>C | CA358846307 | WWC2 | c.3323T>C (p.Leu1108Pro) c.*2715T>C (n.*2715T>C) c.*1119T>C (n.*1119T>C) c.3395T>C (p.Leu1132Pro) c.2369T>C (p.Leu790Pro) c.707T>C (p.Leu236Pro) c.3176T>C (p.Leu1059Pro) c.3101T>C (p.Leu1034Pro) | |
| 4 | g.183289574T>G | CA358846308 | WWC2 | c.3323T>G (p.Leu1108Arg) c.*2715T>G (n.*2715T>G) c.*1119T>G (n.*1119T>G) c.3395T>G (p.Leu1132Arg) c.2369T>G (p.Leu790Arg) c.707T>G (p.Leu236Arg) c.3176T>G (p.Leu1059Arg) c.3101T>G (p.Leu1034Arg) |