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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow 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.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) | |
| 4 | g.183289575T>A | CA442557688 | WWC2 | c.3324T>A (p.Leu1108=) c.*2716T>A (n.*2716T>A) c.*1120T>A (n.*1120T>A) c.3396T>A (p.Leu1132=) c.2370T>A (p.Leu790=) c.708T>A (p.Leu236=) c.3177T>A (p.Leu1059=) c.3102T>A (p.Leu1034=) | |
| 4 | g.183289575T>C | CA442557690 | WWC2 | c.3324T>C (p.Leu1108=) c.*2716T>C (n.*2716T>C) c.*1120T>C (n.*1120T>C) c.3396T>C (p.Leu1132=) c.2370T>C (p.Leu790=) c.708T>C (p.Leu236=) c.3177T>C (p.Leu1059=) c.3102T>C (p.Leu1034=) | |
| 4 | g.183289575T>G | CA442557689 | WWC2 | c.3324T>G (p.Leu1108=) c.*2716T>G (n.*2716T>G) c.*1120T>G (n.*1120T>G) c.3396T>G (p.Leu1132=) c.2370T>G (p.Leu790=) c.708T>G (p.Leu236=) c.3177T>G (p.Leu1059=) c.3102T>G (p.Leu1034=) | |
| 4 | g.183289576C>A | CA358846310 | WWC2 | c.3325C>A (p.Pro1109Thr) c.*2717C>A (n.*2717C>A) c.*1121C>A (n.*1121C>A) c.3397C>A (p.Pro1133Thr) c.2371C>A (p.Pro791Thr) c.709C>A (p.Pro237Thr) c.3178C>A (p.Pro1060Thr) c.3103C>A (p.Pro1035Thr) | |
| 4 | g.183289576C= | CA1518546756 | WWC2 | c.3325C= (p.Pro1109=) c.*2717C= (n.*2717C=) c.*1121C= (n.*1121C=) c.3397C= (p.Pro1133=) c.2371C= (p.Pro791=) c.709C= (p.Pro237=) c.3178C= (p.Pro1060=) c.3103C= (p.Pro1035=) | |
| 4 | g.183289576C>G | CA3150323 | WWC2 | c.3325C>G (p.Pro1109Ala) c.*2717C>G (n.*2717C>G) c.*1121C>G (n.*1121C>G) c.3397C>G (p.Pro1133Ala) c.2371C>G (p.Pro791Ala) c.709C>G (p.Pro237Ala) c.3178C>G (p.Pro1060Ala) c.3103C>G (p.Pro1035Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289576C>T | CA358846309 | WWC2 | c.3325C>T (p.Pro1109Ser) c.*2717C>T (n.*2717C>T) c.*1121C>T (n.*1121C>T) c.3397C>T (p.Pro1133Ser) c.2371C>T (p.Pro791Ser) c.709C>T (p.Pro237Ser) c.3178C>T (p.Pro1060Ser) c.3103C>T (p.Pro1035Ser) | |
| 4 | g.183289577C>A | CA358846311 | WWC2 | c.3326C>A (p.Pro1109Gln) c.*2718C>A (n.*2718C>A) c.*1122C>A (n.*1122C>A) c.3398C>A (p.Pro1133Gln) c.2372C>A (p.Pro791Gln) c.710C>A (p.Pro237Gln) c.3179C>A (p.Pro1060Gln) c.3104C>A (p.Pro1035Gln) | gnomAD v4 |
| 4 | g.183289577C>G | CA358846312 | WWC2 | c.3326C>G (p.Pro1109Arg) c.*2718C>G (n.*2718C>G) c.*1122C>G (n.*1122C>G) c.3398C>G (p.Pro1133Arg) c.2372C>G (p.Pro791Arg) c.710C>G (p.Pro237Arg) c.3179C>G (p.Pro1060Arg) c.3104C>G (p.Pro1035Arg) | |
| 4 | g.183289577C>T | CA358846313 | WWC2 | c.3326C>T (p.Pro1109Leu) c.*2718C>T (n.*2718C>T) c.*1122C>T (n.*1122C>T) c.3398C>T (p.Pro1133Leu) c.2372C>T (p.Pro791Leu) c.710C>T (p.Pro237Leu) c.3179C>T (p.Pro1060Leu) c.3104C>T (p.Pro1035Leu) | gnomAD v4 |
| 4 | g.183289578A= | CA1518546757 | WWC2 | c.3327A= (p.Pro1109=) c.*2719A= (n.*2719A=) c.*1123A= (n.*1123A=) c.3399A= (p.Pro1133=) c.2373A= (p.Pro791=) c.711A= (p.Pro237=) c.3180A= (p.Pro1060=) c.3105A= (p.Pro1035=) | |
| 4 | g.183289578A>C | CA442557691 | WWC2 | c.3327A>C (p.Pro1109=) c.*2719A>C (n.*2719A>C) c.*1123A>C (n.*1123A>C) c.3399A>C (p.Pro1133=) c.2373A>C (p.Pro791=) c.711A>C (p.Pro237=) c.3180A>C (p.Pro1060=) c.3105A>C (p.Pro1035=) | |
| 4 | g.183289578A>G | CA442557692 | WWC2 | c.3327A>G (p.Pro1109=) c.*2719A>G (n.*2719A>G) c.*1123A>G (n.*1123A>G) c.3399A>G (p.Pro1133=) c.2373A>G (p.Pro791=) c.711A>G (p.Pro237=) c.3180A>G (p.Pro1060=) c.3105A>G (p.Pro1035=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289578A>T | CA442557693 | WWC2 | c.3327A>T (p.Pro1109=) c.*2719A>T (n.*2719A>T) c.*1123A>T (n.*1123A>T) c.3399A>T (p.Pro1133=) c.2373A>T (p.Pro791=) c.711A>T (p.Pro237=) c.3180A>T (p.Pro1060=) c.3105A>T (p.Pro1035=) | |
| 4 | g.183289579C>A | CA358846314 | WWC2 | c.3328C>A (p.Pro1110Thr) c.*2720C>A (n.*2720C>A) c.*1124C>A (n.*1124C>A) c.3400C>A (p.Pro1134Thr) c.2374C>A (p.Pro792Thr) c.712C>A (p.Pro238Thr) c.3181C>A (p.Pro1061Thr) c.3106C>A (p.Pro1036Thr) | |
| 4 | g.183289579C= | CA1518546758 | WWC2 | c.3328C= (p.Pro1110=) c.*2720C= (n.*2720C=) c.*1124C= (n.*1124C=) c.3400C= (p.Pro1134=) c.2374C= (p.Pro792=) c.712C= (p.Pro238=) c.3181C= (p.Pro1061=) c.3106C= (p.Pro1036=) | |
| 4 | g.183289579C>G | CA358846315 | WWC2 | c.3328C>G (p.Pro1110Ala) c.*2720C>G (n.*2720C>G) c.*1124C>G (n.*1124C>G) c.3400C>G (p.Pro1134Ala) c.2374C>G (p.Pro792Ala) c.712C>G (p.Pro238Ala) c.3181C>G (p.Pro1061Ala) c.3106C>G (p.Pro1036Ala) | dbSNP |
| 4 | g.183289579C>T | CA358846316 | WWC2 | c.3328C>T (p.Pro1110Ser) c.*2720C>T (n.*2720C>T) c.*1124C>T (n.*1124C>T) c.3400C>T (p.Pro1134Ser) c.2374C>T (p.Pro792Ser) c.712C>T (p.Pro238Ser) c.3181C>T (p.Pro1061Ser) c.3106C>T (p.Pro1036Ser) | gnomAD v4 |
| 4 | g.183289580C>A | CA358846317 | WWC2 | c.3329C>A (p.Pro1110Gln) c.*2721C>A (n.*2721C>A) c.*1125C>A (n.*1125C>A) c.3401C>A (p.Pro1134Gln) c.2375C>A (p.Pro792Gln) c.713C>A (p.Pro238Gln) c.3182C>A (p.Pro1061Gln) c.3107C>A (p.Pro1036Gln) | |
| 4 | g.183289580C>G | CA358846318 | WWC2 | c.3329C>G (p.Pro1110Arg) c.*2721C>G (n.*2721C>G) c.*1125C>G (n.*1125C>G) c.3401C>G (p.Pro1134Arg) c.2375C>G (p.Pro792Arg) c.713C>G (p.Pro238Arg) c.3182C>G (p.Pro1061Arg) c.3107C>G (p.Pro1036Arg) | |
| 4 | g.183289580C>T | CA358846319 | WWC2 | c.3329C>T (p.Pro1110Leu) c.*2721C>T (n.*2721C>T) c.*1125C>T (n.*1125C>T) c.3401C>T (p.Pro1134Leu) c.2375C>T (p.Pro792Leu) c.713C>T (p.Pro238Leu) c.3182C>T (p.Pro1061Leu) c.3107C>T (p.Pro1036Leu) | gnomAD v4 |
| 4 | g.183289581A>C | CA442557694 | WWC2 | c.3330A>C (p.Pro1110=) c.*2722A>C (n.*2722A>C) c.*1126A>C (n.*1126A>C) c.3402A>C (p.Pro1134=) c.2376A>C (p.Pro792=) c.714A>C (p.Pro238=) c.3183A>C (p.Pro1061=) c.3108A>C (p.Pro1036=) | |
| 4 | g.183289581A>G | CA442557695 | WWC2 | c.3330A>G (p.Pro1110=) c.*2722A>G (n.*2722A>G) c.*1126A>G (n.*1126A>G) c.3402A>G (p.Pro1134=) c.2376A>G (p.Pro792=) c.714A>G (p.Pro238=) c.3183A>G (p.Pro1061=) c.3108A>G (p.Pro1036=) | |
| 4 | g.183289581A>T | CA442557696 | WWC2 | c.3330A>T (p.Pro1110=) c.*2722A>T (n.*2722A>T) c.*1126A>T (n.*1126A>T) c.3402A>T (p.Pro1134=) c.2376A>T (p.Pro792=) c.714A>T (p.Pro238=) c.3183A>T (p.Pro1061=) c.3108A>T (p.Pro1036=) | |
| 4 | g.183289582G>A | CA358846320 | WWC2 | c.3331G>A (p.Gly1111Ser) c.*2723G>A (n.*2723G>A) c.*1127G>A (n.*1127G>A) c.3403G>A (p.Gly1135Ser) c.2377G>A (p.Gly793Ser) c.715G>A (p.Gly239Ser) c.3184G>A (p.Gly1062Ser) c.3109G>A (p.Gly1037Ser) | |
| 4 | g.183289582G>C | CA358846321 | WWC2 | c.3331G>C (p.Gly1111Arg) c.*2723G>C (n.*2723G>C) c.*1127G>C (n.*1127G>C) c.3403G>C (p.Gly1135Arg) c.2377G>C (p.Gly793Arg) c.715G>C (p.Gly239Arg) c.3184G>C (p.Gly1062Arg) c.3109G>C (p.Gly1037Arg) | |
| 4 | g.183289582G>T | CA358846322 | WWC2 | c.3331G>T (p.Gly1111Cys) c.*2723G>T (n.*2723G>T) c.*1127G>T (n.*1127G>T) c.3403G>T (p.Gly1135Cys) c.2377G>T (p.Gly793Cys) c.715G>T (p.Gly239Cys) c.3184G>T (p.Gly1062Cys) c.3109G>T (p.Gly1037Cys) | |
| 4 | g.183289583G>A | CA358846325 | WWC2 | c.3332G>A (p.Gly1111Asp) c.*2724G>A (n.*2724G>A) c.*1128G>A (n.*1128G>A) c.3404G>A (p.Gly1135Asp) c.2378G>A (p.Gly793Asp) c.716G>A (p.Gly239Asp) c.3185G>A (p.Gly1062Asp) c.3110G>A (p.Gly1037Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289583G>C | CA358846324 | WWC2 | c.3332G>C (p.Gly1111Ala) c.*2724G>C (n.*2724G>C) c.*1128G>C (n.*1128G>C) c.3404G>C (p.Gly1135Ala) c.2378G>C (p.Gly793Ala) c.716G>C (p.Gly239Ala) c.3185G>C (p.Gly1062Ala) c.3110G>C (p.Gly1037Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289583G= | CA1518546759 | WWC2 | c.3332G= (p.Gly1111=) c.*2724G= (n.*2724G=) c.*1128G= (n.*1128G=) c.3404G= (p.Gly1135=) c.2378G= (p.Gly793=) c.716G= (p.Gly239=) c.3185G= (p.Gly1062=) c.3110G= (p.Gly1037=) | |
| 4 | g.183289583G>T | CA358846323 | WWC2 | c.3332G>T (p.Gly1111Val) c.*2724G>T (n.*2724G>T) c.*1128G>T (n.*1128G>T) c.3404G>T (p.Gly1135Val) c.2378G>T (p.Gly793Val) c.716G>T (p.Gly239Val) c.3185G>T (p.Gly1062Val) c.3110G>T (p.Gly1037Val) | |
| 4 | g.183289584C>A | CA442557698 | WWC2 | c.3333C>A (p.Gly1111=) c.*2725C>A (n.*2725C>A) c.*1129C>A (n.*1129C>A) c.3405C>A (p.Gly1135=) c.2379C>A (p.Gly793=) c.717C>A (p.Gly239=) c.3186C>A (p.Gly1062=) c.3111C>A (p.Gly1037=) | gnomAD v4 |
| 4 | g.183289584C= | CA1518546760 | WWC2 | c.3333C= (p.Gly1111=) c.*2725C= (n.*2725C=) c.*1129C= (n.*1129C=) c.3405C= (p.Gly1135=) c.2379C= (p.Gly793=) c.717C= (p.Gly239=) c.3186C= (p.Gly1062=) c.3111C= (p.Gly1037=) | |
| 4 | g.183289584C>G | CA442557697 | WWC2 | c.3333C>G (p.Gly1111=) c.*2725C>G (n.*2725C>G) c.*1129C>G (n.*1129C>G) c.3405C>G (p.Gly1135=) c.2379C>G (p.Gly793=) c.717C>G (p.Gly239=) c.3186C>G (p.Gly1062=) c.3111C>G (p.Gly1037=) | |
| 4 | g.183289584C>T | CA3150324 | WWC2 | c.3333C>T (p.Gly1111=) c.*2725C>T (n.*2725C>T) c.*1129C>T (n.*1129C>T) c.3405C>T (p.Gly1135=) c.2379C>T (p.Gly793=) c.717C>T (p.Gly239=) c.3186C>T (p.Gly1062=) c.3111C>T (p.Gly1037=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289585G>A | CA3150325 | WWC2 | c.3334G>A (p.Val1112Met) c.*2726G>A (n.*2726G>A) c.*1130G>A (n.*1130G>A) c.3406G>A (p.Val1136Met) c.2380G>A (p.Val794Met) c.718G>A (p.Val240Met) c.3187G>A (p.Val1063Met) c.3112G>A (p.Val1038Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289585G>C | CA358846326 | WWC2 | c.3334G>C (p.Val1112Leu) c.*2726G>C (n.*2726G>C) c.*1130G>C (n.*1130G>C) c.3406G>C (p.Val1136Leu) c.2380G>C (p.Val794Leu) c.718G>C (p.Val240Leu) c.3187G>C (p.Val1063Leu) c.3112G>C (p.Val1038Leu) | |
| 4 | g.183289585G= | CA1518546761 | WWC2 | c.3334G= (p.Val1112=) c.*2726G= (n.*2726G=) c.*1130G= (n.*1130G=) c.3406G= (p.Val1136=) c.2380G= (p.Val794=) c.718G= (p.Val240=) c.3187G= (p.Val1063=) c.3112G= (p.Val1038=) | |
| 4 | g.183289585G>T | CA3150326 | WWC2 | c.3334G>T (p.Val1112Leu) c.*2726G>T (n.*2726G>T) c.*1130G>T (n.*1130G>T) c.3406G>T (p.Val1136Leu) c.2380G>T (p.Val794Leu) c.718G>T (p.Val240Leu) c.3187G>T (p.Val1063Leu) c.3112G>T (p.Val1038Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289586T>A | CA358846327 | WWC2 | c.3335T>A (p.Val1112Glu) c.*2727T>A (n.*2727T>A) c.*1131T>A (n.*1131T>A) c.3407T>A (p.Val1136Glu) c.2381T>A (p.Val794Glu) c.719T>A (p.Val240Glu) c.3188T>A (p.Val1063Glu) c.3113T>A (p.Val1038Glu) | |
| 4 | g.183289586T>C | CA358846328 | WWC2 | c.3335T>C (p.Val1112Ala) c.*2727T>C (n.*2727T>C) c.*1131T>C (n.*1131T>C) c.3407T>C (p.Val1136Ala) c.2381T>C (p.Val794Ala) c.719T>C (p.Val240Ala) c.3188T>C (p.Val1063Ala) c.3113T>C (p.Val1038Ala) | |
| 4 | g.183289586T>G | CA358846329 | WWC2 | c.3335T>G (p.Val1112Gly) c.*2727T>G (n.*2727T>G) c.*1131T>G (n.*1131T>G) c.3407T>G (p.Val1136Gly) c.2381T>G (p.Val794Gly) c.719T>G (p.Val240Gly) c.3188T>G (p.Val1063Gly) c.3113T>G (p.Val1038Gly) | |
| 4 | g.183289587G>A | CA442557699 | WWC2 | c.3336G>A (p.Val1112=) c.*2728G>A (n.*2728G>A) c.*1132G>A (n.*1132G>A) c.3408G>A (p.Val1136=) c.2382G>A (p.Val794=) c.720G>A (p.Val240=) c.3189G>A (p.Val1063=) c.3114G>A (p.Val1038=) | |
| 4 | g.183289587G>C | CA442557700 | WWC2 | c.3336G>C (p.Val1112=) c.*2728G>C (n.*2728G>C) c.*1132G>C (n.*1132G>C) c.3408G>C (p.Val1136=) c.2382G>C (p.Val794=) c.720G>C (p.Val240=) c.3189G>C (p.Val1063=) c.3114G>C (p.Val1038=) | |
| 4 | g.183289587G>T | CA442557701 | WWC2 | c.3336G>T (p.Val1112=) c.*2728G>T (n.*2728G>T) c.*1132G>T (n.*1132G>T) c.3408G>T (p.Val1136=) c.2382G>T (p.Val794=) c.720G>T (p.Val240=) c.3189G>T (p.Val1063=) c.3114G>T (p.Val1038=) | |
| 4 | g.183289588C>A | CA358846330 | WWC2 | c.3337C>A (p.Leu1113Met) c.*2729C>A (n.*2729C>A) c.*1133C>A (n.*1133C>A) c.3409C>A (p.Leu1137Met) c.2383C>A (p.Leu795Met) c.721C>A (p.Leu241Met) c.3190C>A (p.Leu1064Met) c.3115C>A (p.Leu1039Met) | |
| 4 | g.183289588C>G | CA358846331 | WWC2 | c.3337C>G (p.Leu1113Val) c.*2729C>G (n.*2729C>G) c.*1133C>G (n.*1133C>G) c.3409C>G (p.Leu1137Val) c.2383C>G (p.Leu795Val) c.721C>G (p.Leu241Val) c.3190C>G (p.Leu1064Val) c.3115C>G (p.Leu1039Val) | |
| 4 | g.183289588C>T | CA442557702 | WWC2 | c.3337C>T (p.Leu1113=) c.*2729C>T (n.*2729C>T) c.*1133C>T (n.*1133C>T) c.3409C>T (p.Leu1137=) c.2383C>T (p.Leu795=) c.721C>T (p.Leu241=) c.3190C>T (p.Leu1064=) c.3115C>T (p.Leu1039=) | |
| 4 | g.183289589T>A | CA358846332 | WWC2 | c.3338T>A (p.Leu1113Gln) c.*2730T>A (n.*2730T>A) c.*1134T>A (n.*1134T>A) c.3410T>A (p.Leu1137Gln) c.2384T>A (p.Leu795Gln) c.722T>A (p.Leu241Gln) c.3191T>A (p.Leu1064Gln) c.3116T>A (p.Leu1039Gln) | |
| 4 | g.183289589T>C | CA358846333 | WWC2 | c.3338T>C (p.Leu1113Pro) c.*2730T>C (n.*2730T>C) c.*1134T>C (n.*1134T>C) c.3410T>C (p.Leu1137Pro) c.2384T>C (p.Leu795Pro) c.722T>C (p.Leu241Pro) c.3191T>C (p.Leu1064Pro) c.3116T>C (p.Leu1039Pro) | |
| 4 | g.183289589T>G | CA358846334 | WWC2 | c.3338T>G (p.Leu1113Arg) c.*2730T>G (n.*2730T>G) c.*1134T>G (n.*1134T>G) c.3410T>G (p.Leu1137Arg) c.2384T>G (p.Leu795Arg) c.722T>G (p.Leu241Arg) c.3191T>G (p.Leu1064Arg) c.3116T>G (p.Leu1039Arg) | |
| 4 | g.183289590G>A | CA442557704 | WWC2 | c.3339G>A (p.Leu1113=) c.*2731G>A (n.*2731G>A) c.*1135G>A (n.*1135G>A) c.3411G>A (p.Leu1137=) c.2385G>A (p.Leu795=) c.723G>A (p.Leu241=) c.3192G>A (p.Leu1064=) c.3117G>A (p.Leu1039=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289590G>C | CA442557703 | WWC2 | c.3339G>C (p.Leu1113=) c.*2731G>C (n.*2731G>C) c.*1135G>C (n.*1135G>C) c.3411G>C (p.Leu1137=) c.2385G>C (p.Leu795=) c.723G>C (p.Leu241=) c.3192G>C (p.Leu1064=) c.3117G>C (p.Leu1039=) | |
| 4 | g.183289590G= | CA1518546762 | WWC2 | c.3339G= (p.Leu1113=) c.*2731G= (n.*2731G=) c.*1135G= (n.*1135G=) c.3411G= (p.Leu1137=) c.2385G= (p.Leu795=) c.723G= (p.Leu241=) c.3192G= (p.Leu1064=) c.3117G= (p.Leu1039=) | |
| 4 | g.183289590G>T | CA442557705 | WWC2 | c.3339G>T (p.Leu1113=) c.*2731G>T (n.*2731G>T) c.*1135G>T (n.*1135G>T) c.3411G>T (p.Leu1137=) c.2385G>T (p.Leu795=) c.723G>T (p.Leu241=) c.3192G>T (p.Leu1064=) c.3117G>T (p.Leu1039=) | |
| 4 | g.183289591G>A | CA358846337 | WWC2 | c.3340G>A (p.Glu1114Lys) c.*2732G>A (n.*2732G>A) c.*1136G>A (n.*1136G>A) c.3412G>A (p.Glu1138Lys) c.2386G>A (p.Glu796Lys) c.724G>A (p.Glu242Lys) c.3193G>A (p.Glu1065Lys) c.3118G>A (p.Glu1040Lys) | |
| 4 | g.183289591G>C | CA358846336 | WWC2 | c.3340G>C (p.Glu1114Gln) c.*2732G>C (n.*2732G>C) c.*1136G>C (n.*1136G>C) c.3412G>C (p.Glu1138Gln) c.2386G>C (p.Glu796Gln) c.724G>C (p.Glu242Gln) c.3193G>C (p.Glu1065Gln) c.3118G>C (p.Glu1040Gln) | |
| 4 | g.183289591G>T | CA358846335 | WWC2 | c.3340G>T (p.Glu1114Ter) c.*2732G>T (n.*2732G>T) c.*1136G>T (n.*1136G>T) c.3412G>T (p.Glu1138Ter) c.2386G>T (p.Glu796Ter) c.724G>T (p.Glu242Ter) c.3193G>T (p.Glu1065Ter) c.3118G>T (p.Glu1040Ter) | |
| 4 | g.183289592A>C | CA358846338 | WWC2 | c.3341A>C (p.Glu1114Ala) c.*2733A>C (n.*2733A>C) c.*1137A>C (n.*1137A>C) c.3413A>C (p.Glu1138Ala) c.2387A>C (p.Glu796Ala) c.725A>C (p.Glu242Ala) c.3194A>C (p.Glu1065Ala) c.3119A>C (p.Glu1040Ala) | |
| 4 | g.183289592A>G | CA358846339 | WWC2 | c.3341A>G (p.Glu1114Gly) c.*2733A>G (n.*2733A>G) c.*1137A>G (n.*1137A>G) c.3413A>G (p.Glu1138Gly) c.2387A>G (p.Glu796Gly) c.725A>G (p.Glu242Gly) c.3194A>G (p.Glu1065Gly) c.3119A>G (p.Glu1040Gly) | gnomAD v4 |
| 4 | g.183289592A>T | CA358846340 | WWC2 | c.3341A>T (p.Glu1114Val) c.*2733A>T (n.*2733A>T) c.*1137A>T (n.*1137A>T) c.3413A>T (p.Glu1138Val) c.2387A>T (p.Glu796Val) c.725A>T (p.Glu242Val) c.3194A>T (p.Glu1065Val) c.3119A>T (p.Glu1040Val) | |
| 4 | g.183289593G>A | CA442557706 | WWC2 | c.3342G>A (p.Glu1114=) c.*2734G>A (n.*2734G>A) c.*1138G>A (n.*1138G>A) c.3414G>A (p.Glu1138=) c.2388G>A (p.Glu796=) c.726G>A (p.Glu242=) c.3195G>A (p.Glu1065=) c.3120G>A (p.Glu1040=) | |
| 4 | g.183289593G>C | CA358846341 | WWC2 | c.3342G>C (p.Glu1114Asp) c.*2734G>C (n.*2734G>C) c.*1138G>C (n.*1138G>C) c.3414G>C (p.Glu1138Asp) c.2388G>C (p.Glu796Asp) c.726G>C (p.Glu242Asp) c.3195G>C (p.Glu1065Asp) c.3120G>C (p.Glu1040Asp) | |
| 4 | g.183289593G>T | CA358846342 | WWC2 | c.3342G>T (p.Glu1114Asp) c.*2734G>T (n.*2734G>T) c.*1138G>T (n.*1138G>T) c.3414G>T (p.Glu1138Asp) c.2388G>T (p.Glu796Asp) c.726G>T (p.Glu242Asp) c.3195G>T (p.Glu1065Asp) c.3120G>T (p.Glu1040Asp) | |
| 4 | g.183289594G>A | CA358846343 | WWC2 | c.3343G>A (p.Asp1115Asn) c.*2735G>A (n.*2735G>A) c.*1139G>A (n.*1139G>A) c.3415G>A (p.Asp1139Asn) c.2389G>A (p.Asp797Asn) c.727G>A (p.Asp243Asn) c.3196G>A (p.Asp1066Asn) c.3121G>A (p.Asp1041Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289594G>C | CA358846344 | WWC2 | c.3343G>C (p.Asp1115His) c.*2735G>C (n.*2735G>C) c.*1139G>C (n.*1139G>C) c.3415G>C (p.Asp1139His) c.2389G>C (p.Asp797His) c.727G>C (p.Asp243His) c.3196G>C (p.Asp1066His) c.3121G>C (p.Asp1041His) | |
| 4 | g.183289594G= | CA1518546763 | WWC2 | c.3343G= (p.Asp1115=) c.*2735G= (n.*2735G=) c.*1139G= (n.*1139G=) c.3415G= (p.Asp1139=) c.2389G= (p.Asp797=) c.727G= (p.Asp243=) c.3196G= (p.Asp1066=) c.3121G= (p.Asp1041=) | |
| 4 | g.183289594G>T | CA3150327 | WWC2 | c.3343G>T (p.Asp1115Tyr) c.*2735G>T (n.*2735G>T) c.*1139G>T (n.*1139G>T) c.3415G>T (p.Asp1139Tyr) c.2389G>T (p.Asp797Tyr) c.727G>T (p.Asp243Tyr) c.3196G>T (p.Asp1066Tyr) c.3121G>T (p.Asp1041Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289595A= | CA1518546764 | WWC2 | c.3344A= (p.Asp1115=) c.*2736A= (n.*2736A=) c.*1140A= (n.*1140A=) c.3416A= (p.Asp1139=) c.2390A= (p.Asp797=) c.728A= (p.Asp243=) c.3197A= (p.Asp1066=) c.3122A= (p.Asp1041=) | |
| 4 | g.183289595A>C | CA358846345 | WWC2 | c.3344A>C (p.Asp1115Ala) c.*2736A>C (n.*2736A>C) c.*1140A>C (n.*1140A>C) c.3416A>C (p.Asp1139Ala) c.2390A>C (p.Asp797Ala) c.728A>C (p.Asp243Ala) c.3197A>C (p.Asp1066Ala) c.3122A>C (p.Asp1041Ala) | |
| 4 | g.183289595A>G | CA358846346 | WWC2 | c.3344A>G (p.Asp1115Gly) c.*2736A>G (n.*2736A>G) c.*1140A>G (n.*1140A>G) c.3416A>G (p.Asp1139Gly) c.2390A>G (p.Asp797Gly) c.728A>G (p.Asp243Gly) c.3197A>G (p.Asp1066Gly) c.3122A>G (p.Asp1041Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289595A>T | CA358846347 | WWC2 | c.3344A>T (p.Asp1115Val) c.*2736A>T (n.*2736A>T) c.*1140A>T (n.*1140A>T) c.3416A>T (p.Asp1139Val) c.2390A>T (p.Asp797Val) c.728A>T (p.Asp243Val) c.3197A>T (p.Asp1066Val) c.3122A>T (p.Asp1041Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289596T>A | CA358846348 | WWC2 | c.3345T>A (p.Asp1115Glu) c.*2737T>A (n.*2737T>A) c.*1141T>A (n.*1141T>A) c.3417T>A (p.Asp1139Glu) c.2391T>A (p.Asp797Glu) c.729T>A (p.Asp243Glu) c.3198T>A (p.Asp1066Glu) c.3123T>A (p.Asp1041Glu) | |
| 4 | g.183289596T>C | CA442557707 | WWC2 | c.3345T>C (p.Asp1115=) c.*2737T>C (n.*2737T>C) c.*1141T>C (n.*1141T>C) c.3417T>C (p.Asp1139=) c.2391T>C (p.Asp797=) c.729T>C (p.Asp243=) c.3198T>C (p.Asp1066=) c.3123T>C (p.Asp1041=) | dbSNP |
| 4 | g.183289596T>G | CA358846349 | WWC2 | c.3345T>G (p.Asp1115Glu) c.*2737T>G (n.*2737T>G) c.*1141T>G (n.*1141T>G) c.3417T>G (p.Asp1139Glu) c.2391T>G (p.Asp797Glu) c.729T>G (p.Asp243Glu) c.3198T>G (p.Asp1066Glu) c.3123T>G (p.Asp1041Glu) | |
| 4 | g.183289597G>A | CA358846351 | WWC2 | c.3346G>A (p.Glu1116Lys) c.*2738G>A (n.*2738G>A) c.*1142G>A (n.*1142G>A) c.3418G>A (p.Glu1140Lys) c.2392G>A (p.Glu798Lys) c.730G>A (p.Glu244Lys) c.3199G>A (p.Glu1067Lys) c.3124G>A (p.Glu1042Lys) | |
| 4 | g.183289597G>C | CA358846352 | WWC2 | c.3346G>C (p.Glu1116Gln) c.*2738G>C (n.*2738G>C) c.*1142G>C (n.*1142G>C) c.3418G>C (p.Glu1140Gln) c.2392G>C (p.Glu798Gln) c.730G>C (p.Glu244Gln) c.3199G>C (p.Glu1067Gln) c.3124G>C (p.Glu1042Gln) | |
| 4 | g.183289597G>T | CA358846350 | WWC2 | c.3346G>T (p.Glu1116Ter) c.*2738G>T (n.*2738G>T) c.*1142G>T (n.*1142G>T) c.3418G>T (p.Glu1140Ter) c.2392G>T (p.Glu798Ter) c.730G>T (p.Glu244Ter) c.3199G>T (p.Glu1067Ter) c.3124G>T (p.Glu1042Ter) | gnomAD v4 |
| 4 | g.183289598A= | CA1518546765 | WWC2 | c.3347A= (p.Glu1116=) c.*2739A= (n.*2739A=) c.*1143A= (n.*1143A=) c.3419A= (p.Glu1140=) c.2393A= (p.Glu798=) c.731A= (p.Glu244=) c.3200A= (p.Glu1067=) c.3125A= (p.Glu1042=) | |
| 4 | g.183289598A>C | CA358846353 | WWC2 | c.3347A>C (p.Glu1116Ala) c.*2739A>C (n.*2739A>C) c.*1143A>C (n.*1143A>C) c.3419A>C (p.Glu1140Ala) c.2393A>C (p.Glu798Ala) c.731A>C (p.Glu244Ala) c.3200A>C (p.Glu1067Ala) c.3125A>C (p.Glu1042Ala) | |
| 4 | g.183289598A>G | CA358846354 | WWC2 | c.3347A>G (p.Glu1116Gly) c.*2739A>G (n.*2739A>G) c.*1143A>G (n.*1143A>G) c.3419A>G (p.Glu1140Gly) c.2393A>G (p.Glu798Gly) c.731A>G (p.Glu244Gly) c.3200A>G (p.Glu1067Gly) c.3125A>G (p.Glu1042Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289598A>T | CA358846355 | WWC2 | c.3347A>T (p.Glu1116Val) c.*2739A>T (n.*2739A>T) c.*1143A>T (n.*1143A>T) c.3419A>T (p.Glu1140Val) c.2393A>T (p.Glu798Val) c.731A>T (p.Glu244Val) c.3200A>T (p.Glu1067Val) c.3125A>T (p.Glu1042Val) | |
| 4 | g.183289599G>A | CA442557708 | WWC2 | c.3348G>A (p.Glu1116=) c.*2740G>A (n.*2740G>A) c.*1144G>A (n.*1144G>A) c.3420G>A (p.Glu1140=) c.2394G>A (p.Glu798=) c.732G>A (p.Glu244=) c.3201G>A (p.Glu1067=) c.3126G>A (p.Glu1042=) | |
| 4 | g.183289599G>C | CA358846356 | WWC2 | c.3348G>C (p.Glu1116Asp) c.*2740G>C (n.*2740G>C) c.*1144G>C (n.*1144G>C) c.3420G>C (p.Glu1140Asp) c.2394G>C (p.Glu798Asp) c.732G>C (p.Glu244Asp) c.3201G>C (p.Glu1067Asp) c.3126G>C (p.Glu1042Asp) | |
| 4 | g.183289599G>T | CA358846357 | WWC2 | c.3348G>T (p.Glu1116Asp) c.*2740G>T (n.*2740G>T) c.*1144G>T (n.*1144G>T) c.3420G>T (p.Glu1140Asp) c.2394G>T (p.Glu798Asp) c.732G>T (p.Glu244Asp) c.3201G>T (p.Glu1067Asp) c.3126G>T (p.Glu1042Asp) | |
| 4 | g.183289600A= | CA1518546766 | WWC2 | c.3349A= (p.Arg1117=) c.*2741A= (n.*2741A=) c.*1145A= (n.*1145A=) c.3421A= (p.Arg1141=) c.2395A= (p.Arg799=) c.733A= (p.Arg245=) c.3202A= (p.Arg1068=) c.3127A= (p.Arg1043=) | |
| 4 | g.183289600A>C | CA442557709 | WWC2 | c.3349A>C (p.Arg1117=) c.*2741A>C (n.*2741A>C) c.*1145A>C (n.*1145A>C) c.3421A>C (p.Arg1141=) c.2395A>C (p.Arg799=) c.733A>C (p.Arg245=) c.3202A>C (p.Arg1068=) c.3127A>C (p.Arg1043=) | dbSNP |
| 4 | g.183289600A>G | CA358846358 | WWC2 | c.3349A>G (p.Arg1117Gly) c.*2741A>G (n.*2741A>G) c.*1145A>G (n.*1145A>G) c.3421A>G (p.Arg1141Gly) c.2395A>G (p.Arg799Gly) c.733A>G (p.Arg245Gly) c.3202A>G (p.Arg1068Gly) c.3127A>G (p.Arg1043Gly) | gnomAD v4 |
| 4 | g.183289600A>T | CA358846359 | WWC2 | c.3349A>T (p.Arg1117Trp) c.*2741A>T (n.*2741A>T) c.*1145A>T (n.*1145A>T) c.3421A>T (p.Arg1141Trp) c.2395A>T (p.Arg799Trp) c.733A>T (p.Arg245Trp) c.3202A>T (p.Arg1068Trp) c.3127A>T (p.Arg1043Trp) | |
| 4 | g.183289601G>A | CA358846360 | WWC2 | c.3350G>A (p.Arg1117Lys) c.*2742G>A (n.*2742G>A) c.*1146G>A (n.*1146G>A) c.3422G>A (p.Arg1141Lys) c.2396G>A (p.Arg799Lys) c.734G>A (p.Arg245Lys) c.3203G>A (p.Arg1068Lys) c.3128G>A (p.Arg1043Lys) | |
| 4 | g.183289601G>C | CA111773611 | WWC2 | c.3350G>C (p.Arg1117Thr) c.*2742G>C (n.*2742G>C) c.*1146G>C (n.*1146G>C) c.3422G>C (p.Arg1141Thr) c.2396G>C (p.Arg799Thr) c.734G>C (p.Arg245Thr) c.3203G>C (p.Arg1068Thr) c.3128G>C (p.Arg1043Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289601G= | CA1518546767 | WWC2 | c.3350G= (p.Arg1117=) c.*2742G= (n.*2742G=) c.*1146G= (n.*1146G=) c.3422G= (p.Arg1141=) c.2396G= (p.Arg799=) c.734G= (p.Arg245=) c.3203G= (p.Arg1068=) c.3128G= (p.Arg1043=) | |
| 4 | g.183289601G>T | CA358846361 | WWC2 | c.3350G>T (p.Arg1117Met) c.*2742G>T (n.*2742G>T) c.*1146G>T (n.*1146G>T) c.3422G>T (p.Arg1141Met) c.2396G>T (p.Arg799Met) c.734G>T (p.Arg245Met) c.3203G>T (p.Arg1068Met) c.3128G>T (p.Arg1043Met) | |
| 4 | g.183289602G>A | CA442557710 | WWC2 | c.3351G>A (p.Arg1117=) c.*2743G>A (n.*2743G>A) c.*1147G>A (n.*1147G>A) c.3423G>A (p.Arg1141=) c.2397G>A (p.Arg799=) c.735G>A (p.Arg245=) c.3204G>A (p.Arg1068=) c.3129G>A (p.Arg1043=) | |
| 4 | g.183289602G>C | CA358846362 | WWC2 | c.3351G>C (p.Arg1117Ser) c.*2743G>C (n.*2743G>C) c.*1147G>C (n.*1147G>C) c.3423G>C (p.Arg1141Ser) c.2397G>C (p.Arg799Ser) c.735G>C (p.Arg245Ser) c.3204G>C (p.Arg1068Ser) c.3129G>C (p.Arg1043Ser) | |
| 4 | g.183289602G= | CA1518546768 | WWC2 | c.3351G= (p.Arg1117=) c.*2743G= (n.*2743G=) c.*1147G= (n.*1147G=) c.3423G= (p.Arg1141=) c.2397G= (p.Arg799=) c.735G= (p.Arg245=) c.3204G= (p.Arg1068=) c.3129G= (p.Arg1043=) | |
| 4 | g.183289602G>T | CA111773616 | WWC2 | c.3351G>T (p.Arg1117Ser) c.*2743G>T (n.*2743G>T) c.*1147G>T (n.*1147G>T) c.3423G>T (p.Arg1141Ser) c.2397G>T (p.Arg799Ser) c.735G>T (p.Arg245Ser) c.3204G>T (p.Arg1068Ser) c.3129G>T (p.Arg1043Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289603T>A | CA358846363 | WWC2 | c.3352T>A (p.Phe1118Ile) c.*2744T>A (n.*2744T>A) c.*1148T>A (n.*1148T>A) c.3424T>A (p.Phe1142Ile) c.2398T>A (p.Phe800Ile) c.736T>A (p.Phe246Ile) c.3205T>A (p.Phe1069Ile) c.3130T>A (p.Phe1044Ile) | |
| 4 | g.183289603T>C | CA358846364 | WWC2 | c.3352T>C (p.Phe1118Leu) c.*2744T>C (n.*2744T>C) c.*1148T>C (n.*1148T>C) c.3424T>C (p.Phe1142Leu) c.2398T>C (p.Phe800Leu) c.736T>C (p.Phe246Leu) c.3205T>C (p.Phe1069Leu) c.3130T>C (p.Phe1044Leu) | |
| 4 | g.183289603T>G | CA358846365 | WWC2 | c.3352T>G (p.Phe1118Val) c.*2744T>G (n.*2744T>G) c.*1148T>G (n.*1148T>G) c.3424T>G (p.Phe1142Val) c.2398T>G (p.Phe800Val) c.736T>G (p.Phe246Val) c.3205T>G (p.Phe1069Val) c.3130T>G (p.Phe1044Val) | |
| 4 | g.183289604T>A | CA358846366 | WWC2 | c.3353T>A (p.Phe1118Tyr) c.*2745T>A (n.*2745T>A) c.*1149T>A (n.*1149T>A) c.3425T>A (p.Phe1142Tyr) c.2399T>A (p.Phe800Tyr) c.737T>A (p.Phe246Tyr) c.3206T>A (p.Phe1069Tyr) c.3131T>A (p.Phe1044Tyr) | |
| 4 | g.183289604T>C | CA358846368 | WWC2 | c.3353T>C (p.Phe1118Ser) c.*2745T>C (n.*2745T>C) c.*1149T>C (n.*1149T>C) c.3425T>C (p.Phe1142Ser) c.2399T>C (p.Phe800Ser) c.737T>C (p.Phe246Ser) c.3206T>C (p.Phe1069Ser) c.3131T>C (p.Phe1044Ser) | |
| 4 | g.183289604T>G | CA358846367 | WWC2 | c.3353T>G (p.Phe1118Cys) c.*2745T>G (n.*2745T>G) c.*1149T>G (n.*1149T>G) c.3425T>G (p.Phe1142Cys) c.2399T>G (p.Phe800Cys) c.737T>G (p.Phe246Cys) c.3206T>G (p.Phe1069Cys) c.3131T>G (p.Phe1044Cys) | |
| 4 | g.183289605C>A | CA358846369 | WWC2 | c.3354C>A (p.Phe1118Leu) c.*2746C>A (n.*2746C>A) c.*1150C>A (n.*1150C>A) c.3426C>A (p.Phe1142Leu) c.2400C>A (p.Phe800Leu) c.738C>A (p.Phe246Leu) c.3207C>A (p.Phe1069Leu) c.3132C>A (p.Phe1044Leu) | |
| 4 | g.183289605C>G | CA358846370 | WWC2 | c.3354C>G (p.Phe1118Leu) c.*2746C>G (n.*2746C>G) c.*1150C>G (n.*1150C>G) c.3426C>G (p.Phe1142Leu) c.2400C>G (p.Phe800Leu) c.738C>G (p.Phe246Leu) c.3207C>G (p.Phe1069Leu) c.3132C>G (p.Phe1044Leu) | |
| 4 | g.183289605C>T | CA442557711 | WWC2 | c.3354C>T (p.Phe1118=) c.*2746C>T (n.*2746C>T) c.*1150C>T (n.*1150C>T) c.3426C>T (p.Phe1142=) c.2400C>T (p.Phe800=) c.738C>T (p.Phe246=) c.3207C>T (p.Phe1069=) c.3132C>T (p.Phe1044=) | gnomAD v4 |
| 4 | g.183289606C>A | CA358846371 | WWC2 | c.3355C>A (p.Gln1119Lys) c.*2747C>A (n.*2747C>A) c.*1151C>A (n.*1151C>A) c.3427C>A (p.Gln1143Lys) c.2401C>A (p.Gln801Lys) c.739C>A (p.Gln247Lys) c.3208C>A (p.Gln1070Lys) c.3133C>A (p.Gln1045Lys) | |
| 4 | g.183289606C>G | CA358846372 | WWC2 | c.3355C>G (p.Gln1119Glu) c.*2747C>G (n.*2747C>G) c.*1151C>G (n.*1151C>G) c.3427C>G (p.Gln1143Glu) c.2401C>G (p.Gln801Glu) c.739C>G (p.Gln247Glu) c.3208C>G (p.Gln1070Glu) c.3133C>G (p.Gln1045Glu) | |
| 4 | g.183289606C>T | CA358846373 | WWC2 | c.3355C>T (p.Gln1119Ter) c.*2747C>T (n.*2747C>T) c.*1151C>T (n.*1151C>T) c.3427C>T (p.Gln1143Ter) c.2401C>T (p.Gln801Ter) c.739C>T (p.Gln247Ter) c.3208C>T (p.Gln1070Ter) c.3133C>T (p.Gln1045Ter) | |
| 4 | g.183289607A>C | CA358846374 | WWC2 | c.3356A>C (p.Gln1119Pro) c.*2748A>C (n.*2748A>C) c.*1152A>C (n.*1152A>C) c.3428A>C (p.Gln1143Pro) c.2402A>C (p.Gln801Pro) c.740A>C (p.Gln247Pro) c.3209A>C (p.Gln1070Pro) c.3134A>C (p.Gln1045Pro) | |
| 4 | g.183289607A>G | CA358846375 | WWC2 | c.3356A>G (p.Gln1119Arg) c.*2748A>G (n.*2748A>G) c.*1152A>G (n.*1152A>G) c.3428A>G (p.Gln1143Arg) c.2402A>G (p.Gln801Arg) c.740A>G (p.Gln247Arg) c.3209A>G (p.Gln1070Arg) c.3134A>G (p.Gln1045Arg) | |
| 4 | g.183289607A>T | CA358846376 | WWC2 | c.3356A>T (p.Gln1119Leu) c.*2748A>T (n.*2748A>T) c.*1152A>T (n.*1152A>T) c.3428A>T (p.Gln1143Leu) c.2402A>T (p.Gln801Leu) c.740A>T (p.Gln247Leu) c.3209A>T (p.Gln1070Leu) c.3134A>T (p.Gln1045Leu) | |
| 4 | g.183289608G>A | CA442557712 | WWC2 | c.3357G>A (p.Gln1119=) c.*2749G>A (n.*2749G>A) c.*1153G>A (n.*1153G>A) c.3429G>A (p.Gln1143=) c.2403G>A (p.Gln801=) c.741G>A (p.Gln247=) c.3210G>A (p.Gln1070=) c.3135G>A (p.Gln1045=) | |
| 4 | g.183289608G>C | CA358846377 | WWC2 | c.3357G>C (p.Gln1119His) c.*2749G>C (n.*2749G>C) c.*1153G>C (n.*1153G>C) c.3429G>C (p.Gln1143His) c.2403G>C (p.Gln801His) c.741G>C (p.Gln247His) c.3210G>C (p.Gln1070His) c.3135G>C (p.Gln1045His) | |
| 4 | g.183289608G>T | CA358846378 | WWC2 | c.3357G>T (p.Gln1119His) c.*2749G>T (n.*2749G>T) c.*1153G>T (n.*1153G>T) c.3429G>T (p.Gln1143His) c.2403G>T (p.Gln801His) c.741G>T (p.Gln247His) c.3210G>T (p.Gln1070His) c.3135G>T (p.Gln1045His) | |
| 4 | g.183289609A= | CA1518546769 | WWC2 | c.3358A= (p.Arg1120=) c.*2750A= (n.*2750A=) c.*1154A= (n.*1154A=) c.3430A= (p.Arg1144=) c.2404A= (p.Arg802=) c.742A= (p.Arg248=) c.3211A= (p.Arg1071=) c.3136A= (p.Arg1046=) | |
| 4 | g.183289609A>C | CA442557713 | WWC2 | c.3358A>C (p.Arg1120=) c.*2750A>C (n.*2750A>C) c.*1154A>C (n.*1154A>C) c.3430A>C (p.Arg1144=) c.2404A>C (p.Arg802=) c.742A>C (p.Arg248=) c.3211A>C (p.Arg1071=) c.3136A>C (p.Arg1046=) | |
| 4 | g.183289609A>G | CA358846379 | WWC2 | c.3358A>G (p.Arg1120Gly) c.*2750A>G (n.*2750A>G) c.*1154A>G (n.*1154A>G) c.3430A>G (p.Arg1144Gly) c.2404A>G (p.Arg802Gly) c.742A>G (p.Arg248Gly) c.3211A>G (p.Arg1071Gly) c.3136A>G (p.Arg1046Gly) | |
| 4 | g.183289609A>T | CA358846380 | WWC2 | c.3358A>T (p.Arg1120Trp) c.*2750A>T (n.*2750A>T) c.*1154A>T (n.*1154A>T) c.3430A>T (p.Arg1144Trp) c.2404A>T (p.Arg802Trp) c.742A>T (p.Arg248Trp) c.3211A>T (p.Arg1071Trp) c.3136A>T (p.Arg1046Trp) | dbSNP gnomAD v2 |
| 4 | g.183289610G>A | CA358846381 | WWC2 | c.3359G>A (p.Arg1120Lys) c.*2751G>A (n.*2751G>A) c.*1155G>A (n.*1155G>A) c.3431G>A (p.Arg1144Lys) c.2405G>A (p.Arg802Lys) c.743G>A (p.Arg248Lys) c.3212G>A (p.Arg1071Lys) c.3137G>A (p.Arg1046Lys) | |
| 4 | g.183289610G>C | CA358846383 | WWC2 | c.3359G>C (p.Arg1120Thr) c.*2751G>C (n.*2751G>C) c.*1155G>C (n.*1155G>C) c.3431G>C (p.Arg1144Thr) c.2405G>C (p.Arg802Thr) c.743G>C (p.Arg248Thr) c.3212G>C (p.Arg1071Thr) c.3137G>C (p.Arg1046Thr) | |
| 4 | g.183289610G>T | CA358846382 | WWC2 | c.3359G>T (p.Arg1120Met) c.*2751G>T (n.*2751G>T) c.*1155G>T (n.*1155G>T) c.3431G>T (p.Arg1144Met) c.2405G>T (p.Arg802Met) c.743G>T (p.Arg248Met) c.3212G>T (p.Arg1071Met) c.3137G>T (p.Arg1046Met) | |
| 4 | g.183289611G>A | CA442557714 | WWC2 | c.3360G>A (p.Arg1120=) c.*2752G>A (n.*2752G>A) c.*1156G>A (n.*1156G>A) c.3432G>A (p.Arg1144=) c.2406G>A (p.Arg802=) c.744G>A (p.Arg248=) c.3213G>A (p.Arg1071=) c.3138G>A (p.Arg1046=) | |
| 4 | g.183289611G>C | CA358846384 | WWC2 | c.3360G>C (p.Arg1120Ser) c.*2752G>C (n.*2752G>C) c.*1156G>C (n.*1156G>C) c.3432G>C (p.Arg1144Ser) c.2406G>C (p.Arg802Ser) c.744G>C (p.Arg248Ser) c.3213G>C (p.Arg1071Ser) c.3138G>C (p.Arg1046Ser) | |
| 4 | g.183289611G= | CA1518546770 | WWC2 | c.3360G= (p.Arg1120=) c.*2752G= (n.*2752G=) c.*1156G= (n.*1156G=) c.3432G= (p.Arg1144=) c.2406G= (p.Arg802=) c.744G= (p.Arg248=) c.3213G= (p.Arg1071=) c.3138G= (p.Arg1046=) | |
| 4 | g.183289611G>T | CA3150328 | WWC2 | c.3360G>T (p.Arg1120Ser) c.*2752G>T (n.*2752G>T) c.*1156G>T (n.*1156G>T) c.3432G>T (p.Arg1144Ser) c.2406G>T (p.Arg802Ser) c.744G>T (p.Arg248Ser) c.3213G>T (p.Arg1071Ser) c.3138G>T (p.Arg1046Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289612C>A | CA358846385 | WWC2 | c.3361C>A (p.Leu1121Ile) c.*2753C>A (n.*2753C>A) c.*1157C>A (n.*1157C>A) c.3433C>A (p.Leu1145Ile) c.2407C>A (p.Leu803Ile) c.745C>A (p.Leu249Ile) c.3214C>A (p.Leu1072Ile) c.3139C>A (p.Leu1047Ile) | |
| 4 | g.183289612C>G | CA358846386 | WWC2 | c.3361C>G (p.Leu1121Val) c.*2753C>G (n.*2753C>G) c.*1157C>G (n.*1157C>G) c.3433C>G (p.Leu1145Val) c.2407C>G (p.Leu803Val) c.745C>G (p.Leu249Val) c.3214C>G (p.Leu1072Val) c.3139C>G (p.Leu1047Val) | |
| 4 | g.183289612C>T | CA358846387 | WWC2 | c.3361C>T (p.Leu1121Phe) c.*2753C>T (n.*2753C>T) c.*1157C>T (n.*1157C>T) c.3433C>T (p.Leu1145Phe) c.2407C>T (p.Leu803Phe) c.745C>T (p.Leu249Phe) c.3214C>T (p.Leu1072Phe) c.3139C>T (p.Leu1047Phe) | |
| 4 | g.183289613T>A | CA358846388 | WWC2 | c.3362T>A (p.Leu1121His) c.*2754T>A (n.*2754T>A) c.*1158T>A (n.*1158T>A) c.3434T>A (p.Leu1145His) c.2408T>A (p.Leu803His) c.746T>A (p.Leu249His) c.3215T>A (p.Leu1072His) c.3140T>A (p.Leu1047His) | |
| 4 | g.183289613T>C | CA358846389 | WWC2 | c.3362T>C (p.Leu1121Pro) c.*2754T>C (n.*2754T>C) c.*1158T>C (n.*1158T>C) c.3434T>C (p.Leu1145Pro) c.2408T>C (p.Leu803Pro) c.746T>C (p.Leu249Pro) c.3215T>C (p.Leu1072Pro) c.3140T>C (p.Leu1047Pro) | |
| 4 | g.183289613T>G | CA358846390 | WWC2 | c.3362T>G (p.Leu1121Arg) c.*2754T>G (n.*2754T>G) c.*1158T>G (n.*1158T>G) c.3434T>G (p.Leu1145Arg) c.2408T>G (p.Leu803Arg) c.746T>G (p.Leu249Arg) c.3215T>G (p.Leu1072Arg) c.3140T>G (p.Leu1047Arg) | |
| 4 | g.183289614T>A | CA442557715 | WWC2 | c.3363T>A (p.Leu1121=) c.*2755T>A (n.*2755T>A) c.*1159T>A (n.*1159T>A) c.3435T>A (p.Leu1145=) c.2409T>A (p.Leu803=) c.747T>A (p.Leu249=) c.3216T>A (p.Leu1072=) c.3141T>A (p.Leu1047=) | |
| 4 | g.183289614T>C | CA442557716 | WWC2 | c.3363T>C (p.Leu1121=) c.*2755T>C (n.*2755T>C) c.*1159T>C (n.*1159T>C) c.3435T>C (p.Leu1145=) c.2409T>C (p.Leu803=) c.747T>C (p.Leu249=) c.3216T>C (p.Leu1072=) c.3141T>C (p.Leu1047=) | |
| 4 | g.183289614T>G | CA442557717 | WWC2 | c.3363T>G (p.Leu1121=) c.*2755T>G (n.*2755T>G) c.*1159T>G (n.*1159T>G) c.3435T>G (p.Leu1145=) c.2409T>G (p.Leu803=) c.747T>G (p.Leu249=) c.3216T>G (p.Leu1072=) c.3141T>G (p.Leu1047=) | |
| 4 | g.183289615C>A | CA358846391 | WWC2 | c.3364C>A (p.Leu1122Met) c.*2756C>A (n.*2756C>A) c.*1160C>A (n.*1160C>A) c.3436C>A (p.Leu1146Met) c.2410C>A (p.Leu804Met) c.748C>A (p.Leu250Met) c.3217C>A (p.Leu1073Met) c.3142C>A (p.Leu1048Met) | |
| 4 | g.183289615C>G | CA358846392 | WWC2 | c.3364C>G (p.Leu1122Val) c.*2756C>G (n.*2756C>G) c.*1160C>G (n.*1160C>G) c.3436C>G (p.Leu1146Val) c.2410C>G (p.Leu804Val) c.748C>G (p.Leu250Val) c.3217C>G (p.Leu1073Val) c.3142C>G (p.Leu1048Val) | |
| 4 | g.183289615C>T | CA442557718 | WWC2 | c.3364C>T (p.Leu1122=) c.*2756C>T (n.*2756C>T) c.*1160C>T (n.*1160C>T) c.3436C>T (p.Leu1146=) c.2410C>T (p.Leu804=) c.748C>T (p.Leu250=) c.3217C>T (p.Leu1073=) c.3142C>T (p.Leu1048=) | |
| 4 | g.183289616T>A | CA358846393 | WWC2 | c.3365T>A (p.Leu1122Gln) c.*2757T>A (n.*2757T>A) c.*1161T>A (n.*1161T>A) c.3437T>A (p.Leu1146Gln) c.2411T>A (p.Leu804Gln) c.749T>A (p.Leu250Gln) c.3218T>A (p.Leu1073Gln) c.3143T>A (p.Leu1048Gln) | |
| 4 | g.183289616T>C | CA358846394 | WWC2 | c.3365T>C (p.Leu1122Pro) c.*2757T>C (n.*2757T>C) c.*1161T>C (n.*1161T>C) c.3437T>C (p.Leu1146Pro) c.2411T>C (p.Leu804Pro) c.749T>C (p.Leu250Pro) c.3218T>C (p.Leu1073Pro) c.3143T>C (p.Leu1048Pro) | |
| 4 | g.183289616T>G | CA358846395 | WWC2 | c.3365T>G (p.Leu1122Arg) c.*2757T>G (n.*2757T>G) c.*1161T>G (n.*1161T>G) c.3437T>G (p.Leu1146Arg) c.2411T>G (p.Leu804Arg) c.749T>G (p.Leu250Arg) c.3218T>G (p.Leu1073Arg) c.3143T>G (p.Leu1048Arg) | |
| 4 | g.183289617G>A | CA442557719 | WWC2 | c.3366G>A (p.Leu1122=) c.*2758G>A (n.*2758G>A) c.*1162G>A (n.*1162G>A) c.3438G>A (p.Leu1146=) c.2412G>A (p.Leu804=) c.750G>A (p.Leu250=) c.3219G>A (p.Leu1073=) c.3144G>A (p.Leu1048=) | dbSNP gnomAD v4 |
| 4 | g.183289617G>C | CA442557720 | WWC2 | c.3366G>C (p.Leu1122=) c.*2758G>C (n.*2758G>C) c.*1162G>C (n.*1162G>C) c.3438G>C (p.Leu1146=) c.2412G>C (p.Leu804=) c.750G>C (p.Leu250=) c.3219G>C (p.Leu1073=) c.3144G>C (p.Leu1048=) | gnomAD v4 |
| 4 | g.183289617G= | CA1518546771 | WWC2 | c.3366G= (p.Leu1122=) c.*2758G= (n.*2758G=) c.*1162G= (n.*1162G=) c.3438G= (p.Leu1146=) c.2412G= (p.Leu804=) c.750G= (p.Leu250=) c.3219G= (p.Leu1073=) c.3144G= (p.Leu1048=) | |
| 4 | g.183289617G>T | CA442557721 | WWC2 | c.3366G>T (p.Leu1122=) c.*2758G>T (n.*2758G>T) c.*1162G>T (n.*1162G>T) c.3438G>T (p.Leu1146=) c.2412G>T (p.Leu804=) c.750G>T (p.Leu250=) c.3219G>T (p.Leu1073=) c.3144G>T (p.Leu1048=) | |
| 4 | g.183289618A>C | CA358846398 | WWC2 | c.3367A>C (p.Lys1123Gln) c.*2759A>C (n.*2759A>C) c.*1163A>C (n.*1163A>C) c.3439A>C (p.Lys1147Gln) c.2413A>C (p.Lys805Gln) c.751A>C (p.Lys251Gln) c.3220A>C (p.Lys1074Gln) c.3145A>C (p.Lys1049Gln) | |
| 4 | g.183289618A>G | CA358846396 | WWC2 | c.3367A>G (p.Lys1123Glu) c.*2759A>G (n.*2759A>G) c.*1163A>G (n.*1163A>G) c.3439A>G (p.Lys1147Glu) c.2413A>G (p.Lys805Glu) c.751A>G (p.Lys251Glu) c.3220A>G (p.Lys1074Glu) c.3145A>G (p.Lys1049Glu) | |
| 4 | g.183289618A>T | CA358846397 | WWC2 | c.3367A>T (p.Lys1123Ter) c.*2759A>T (n.*2759A>T) c.*1163A>T (n.*1163A>T) c.3439A>T (p.Lys1147Ter) c.2413A>T (p.Lys805Ter) c.751A>T (p.Lys251Ter) c.3220A>T (p.Lys1074Ter) c.3145A>T (p.Lys1049Ter) | |
| 4 | g.183289619A= | CA1518546772 | WWC2 | c.3368A= (p.Lys1123=) c.*2760A= (n.*2760A=) c.*1164A= (n.*1164A=) c.3440A= (p.Lys1147=) c.2414A= (p.Lys805=) c.752A= (p.Lys251=) c.3221A= (p.Lys1074=) c.3146A= (p.Lys1049=) | |
| 4 | g.183289619A>C | CA358846399 | WWC2 | c.3368A>C (p.Lys1123Thr) c.*2760A>C (n.*2760A>C) c.*1164A>C (n.*1164A>C) c.3440A>C (p.Lys1147Thr) c.2414A>C (p.Lys805Thr) c.752A>C (p.Lys251Thr) c.3221A>C (p.Lys1074Thr) c.3146A>C (p.Lys1049Thr) | |
| 4 | g.183289619A>G | CA358846400 | WWC2 | c.3368A>G (p.Lys1123Arg) c.*2760A>G (n.*2760A>G) c.*1164A>G (n.*1164A>G) c.3440A>G (p.Lys1147Arg) c.2414A>G (p.Lys805Arg) c.752A>G (p.Lys251Arg) c.3221A>G (p.Lys1074Arg) c.3146A>G (p.Lys1049Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289619A>T | CA358846401 | WWC2 | c.3368A>T (p.Lys1123Met) c.*2760A>T (n.*2760A>T) c.*1164A>T (n.*1164A>T) c.3440A>T (p.Lys1147Met) c.2414A>T (p.Lys805Met) c.752A>T (p.Lys251Met) c.3221A>T (p.Lys1074Met) c.3146A>T (p.Lys1049Met) | |
| 4 | g.183289620G>A | CA442557722 | WWC2 | c.3369G>A (p.Lys1123=) c.*2761G>A (n.*2761G>A) c.*1165G>A (n.*1165G>A) c.3441G>A (p.Lys1147=) c.2415G>A (p.Lys805=) c.753G>A (p.Lys251=) c.3222G>A (p.Lys1074=) c.3147G>A (p.Lys1049=) | gnomAD v4 |
| 4 | g.183289620G>C | CA358846402 | WWC2 | c.3369G>C (p.Lys1123Asn) c.*2761G>C (n.*2761G>C) c.*1165G>C (n.*1165G>C) c.3441G>C (p.Lys1147Asn) c.2415G>C (p.Lys805Asn) c.753G>C (p.Lys251Asn) c.3222G>C (p.Lys1074Asn) c.3147G>C (p.Lys1049Asn) | |
| 4 | g.183289620G>T | CA358846403 | WWC2 | c.3369G>T (p.Lys1123Asn) c.*2761G>T (n.*2761G>T) c.*1165G>T (n.*1165G>T) c.3441G>T (p.Lys1147Asn) c.2415G>T (p.Lys805Asn) c.753G>T (p.Lys251Asn) c.3222G>T (p.Lys1074Asn) c.3147G>T (p.Lys1049Asn) | |
| 4 | g.183289621C>A | CA358846404 | WWC2 | c.3370C>A (p.Gln1124Lys) c.*2762C>A (n.*2762C>A) c.*1166C>A (n.*1166C>A) c.3442C>A (p.Gln1148Lys) c.2416C>A (p.Gln806Lys) c.754C>A (p.Gln252Lys) c.3223C>A (p.Gln1075Lys) c.3148C>A (p.Gln1050Lys) | |
| 4 | g.183289621C>G | CA358846405 | WWC2 | c.3370C>G (p.Gln1124Glu) c.*2762C>G (n.*2762C>G) c.*1166C>G (n.*1166C>G) c.3442C>G (p.Gln1148Glu) c.2416C>G (p.Gln806Glu) c.754C>G (p.Gln252Glu) c.3223C>G (p.Gln1075Glu) c.3148C>G (p.Gln1050Glu) | |
| 4 | g.183289621C>T | CA358846406 | WWC2 | c.3370C>T (p.Gln1124Ter) c.*2762C>T (n.*2762C>T) c.*1166C>T (n.*1166C>T) c.3442C>T (p.Gln1148Ter) c.2416C>T (p.Gln806Ter) c.754C>T (p.Gln252Ter) c.3223C>T (p.Gln1075Ter) c.3148C>T (p.Gln1050Ter) | |
| 4 | g.183289622A>C | CA358846407 | WWC2 | c.3371A>C (p.Gln1124Pro) c.*2763A>C (n.*2763A>C) c.*1167A>C (n.*1167A>C) c.3443A>C (p.Gln1148Pro) c.2417A>C (p.Gln806Pro) c.755A>C (p.Gln252Pro) c.3224A>C (p.Gln1075Pro) c.3149A>C (p.Gln1050Pro) | |
| 4 | g.183289622A>G | CA358846408 | WWC2 | c.3371A>G (p.Gln1124Arg) c.*2763A>G (n.*2763A>G) c.*1167A>G (n.*1167A>G) c.3443A>G (p.Gln1148Arg) c.2417A>G (p.Gln806Arg) c.755A>G (p.Gln252Arg) c.3224A>G (p.Gln1075Arg) c.3149A>G (p.Gln1050Arg) | |
| 4 | g.183289622A>T | CA358846409 | WWC2 | c.3371A>T (p.Gln1124Leu) c.*2763A>T (n.*2763A>T) c.*1167A>T (n.*1167A>T) c.3443A>T (p.Gln1148Leu) c.2417A>T (p.Gln806Leu) c.755A>T (p.Gln252Leu) c.3224A>T (p.Gln1075Leu) c.3149A>T (p.Gln1050Leu) | |
| 4 | g.183289623A>C | CA358846410 | WWC2 | c.3372A>C (p.Gln1124His) c.*2764A>C (n.*2764A>C) c.*1168A>C (n.*1168A>C) c.3444A>C (p.Gln1148His) c.2418A>C (p.Gln806His) c.756A>C (p.Gln252His) c.3225A>C (p.Gln1075His) c.3150A>C (p.Gln1050His) | |
| 4 | g.183289623A>G | CA442557723 | WWC2 | c.3372A>G (p.Gln1124=) c.*2764A>G (n.*2764A>G) c.*1168A>G (n.*1168A>G) c.3444A>G (p.Gln1148=) c.2418A>G (p.Gln806=) c.756A>G (p.Gln252=) c.3225A>G (p.Gln1075=) c.3150A>G (p.Gln1050=) | |
| 4 | g.183289623A>T | CA358846411 | WWC2 | c.3372A>T (p.Gln1124His) c.*2764A>T (n.*2764A>T) c.*1168A>T (n.*1168A>T) c.3444A>T (p.Gln1148His) c.2418A>T (p.Gln806His) c.756A>T (p.Gln252His) c.3225A>T (p.Gln1075His) c.3150A>T (p.Gln1050His) | |
| 4 | g.183289624G>A | CA358846413 | WWC2 | c.3373G>A (p.Ala1125Thr) c.*2765G>A (n.*2765G>A) c.*1169G>A (n.*1169G>A) c.3445G>A (p.Ala1149Thr) c.2419G>A (p.Ala807Thr) c.757G>A (p.Ala253Thr) c.3226G>A (p.Ala1076Thr) c.3151G>A (p.Ala1051Thr) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 4 | g.183289624G>C | CA358846414 | WWC2 | c.3373G>C (p.Ala1125Pro) c.*2765G>C (n.*2765G>C) c.*1169G>C (n.*1169G>C) c.3445G>C (p.Ala1149Pro) c.2419G>C (p.Ala807Pro) c.757G>C (p.Ala253Pro) c.3226G>C (p.Ala1076Pro) c.3151G>C (p.Ala1051Pro) | |
| 4 | g.183289624G= | CA1518546773 | WWC2 | c.3373G= (p.Ala1125=) c.*2765G= (n.*2765G=) c.*1169G= (n.*1169G=) c.3445G= (p.Ala1149=) c.2419G= (p.Ala807=) c.757G= (p.Ala253=) c.3226G= (p.Ala1076=) c.3151G= (p.Ala1051=) | |
| 4 | g.183289624G>T | CA358846412 | WWC2 | c.3373G>T (p.Ala1125Ser) c.*2765G>T (n.*2765G>T) c.*1169G>T (n.*1169G>T) c.3445G>T (p.Ala1149Ser) c.2419G>T (p.Ala807Ser) c.757G>T (p.Ala253Ser) c.3226G>T (p.Ala1076Ser) c.3151G>T (p.Ala1051Ser) | gnomAD v4 |
| 4 | g.183289624_183289625insTCC | CA2507113003 | WWC2 | c.3373_3374insTCC (p.Ala1125delinsValPro) c.*2765_*2766insTCC (n.*2765_*2766insTCC) c.*1169_*1170insTCC (n.*1169_*1170insTCC) c.3445_3446insTCC (p.Ala1149delinsValPro) c.2419_2420insTCC (p.Ala807delinsValPro) c.757_758insTCC (p.Ala253delinsValPro) c.3226_3227insTCC (p.Ala1076delinsValPro) c.3151_3152insTCC (p.Ala1051delinsValPro) | |
| 4 | g.183289625C>A | CA358846416 | WWC2 | c.3374C>A (p.Ala1125Asp) c.*2766C>A (n.*2766C>A) c.*1170C>A (n.*1170C>A) c.3446C>A (p.Ala1149Asp) c.2420C>A (p.Ala807Asp) c.758C>A (p.Ala253Asp) c.3227C>A (p.Ala1076Asp) c.3152C>A (p.Ala1051Asp) | |
| 4 | g.183289625C= | CA1518546774 | WWC2 | c.3374C= (p.Ala1125=) c.*2766C= (n.*2766C=) c.*1170C= (n.*1170C=) c.3446C= (p.Ala1149=) c.2420C= (p.Ala807=) c.758C= (p.Ala253=) c.3227C= (p.Ala1076=) c.3152C= (p.Ala1051=) | |
| 4 | g.183289625C>G | CA358846415 | WWC2 | c.3374C>G (p.Ala1125Gly) c.*2766C>G (n.*2766C>G) c.*1170C>G (n.*1170C>G) c.3446C>G (p.Ala1149Gly) c.2420C>G (p.Ala807Gly) c.758C>G (p.Ala253Gly) c.3227C>G (p.Ala1076Gly) c.3152C>G (p.Ala1051Gly) | |
| 4 | g.183289625C>T | CA3150329 | WWC2 | c.3374C>T (p.Ala1125Val) c.*2766C>T (n.*2766C>T) c.*1170C>T (n.*1170C>T) c.3446C>T (p.Ala1149Val) c.2420C>T (p.Ala807Val) c.758C>T (p.Ala253Val) c.3227C>T (p.Ala1076Val) c.3152C>T (p.Ala1051Val) | dbSNP ExAC gnomAD v2 |
| 4 | g.183289626T>A | CA442557726 | WWC2 | c.3375T>A (p.Ala1125=) c.*2767T>A (n.*2767T>A) c.*1171T>A (n.*1171T>A) c.3447T>A (p.Ala1149=) c.2421T>A (p.Ala807=) c.759T>A (p.Ala253=) c.3228T>A (p.Ala1076=) c.3153T>A (p.Ala1051=) | |
| 4 | g.183289626T>C | CA442557725 | WWC2 | c.3375T>C (p.Ala1125=) c.*2767T>C (n.*2767T>C) c.*1171T>C (n.*1171T>C) c.3447T>C (p.Ala1149=) c.2421T>C (p.Ala807=) c.759T>C (p.Ala253=) c.3228T>C (p.Ala1076=) c.3153T>C (p.Ala1051=) | |
| 4 | g.183289626T>G | CA442557724 | WWC2 | c.3375T>G (p.Ala1125=) c.*2767T>G (n.*2767T>G) c.*1171T>G (n.*1171T>G) c.3447T>G (p.Ala1149=) c.2421T>G (p.Ala807=) c.759T>G (p.Ala253=) c.3228T>G (p.Ala1076=) c.3153T>G (p.Ala1051=) | |
| 4 | g.183289627G>A | CA358846417 | WWC2 | c.3376G>A (p.Glu1126Lys) c.*2768G>A (n.*2768G>A) c.*1172G>A (n.*1172G>A) c.3448G>A (p.Glu1150Lys) c.2422G>A (p.Glu808Lys) c.760G>A (p.Glu254Lys) c.3229G>A (p.Glu1077Lys) c.3154G>A (p.Glu1052Lys) | COSMIC COSMIC COSMIC |
| 4 | g.183289627G>C | CA358846419 | WWC2 | c.3376G>C (p.Glu1126Gln) c.*2768G>C (n.*2768G>C) c.*1172G>C (n.*1172G>C) c.3448G>C (p.Glu1150Gln) c.2422G>C (p.Glu808Gln) c.760G>C (p.Glu254Gln) c.3229G>C (p.Glu1077Gln) c.3154G>C (p.Glu1052Gln) | dbSNP |
| 4 | g.183289627G= | CA1518546775 | WWC2 | c.3376G= (p.Glu1126=) c.*2768G= (n.*2768G=) c.*1172G= (n.*1172G=) c.3448G= (p.Glu1150=) c.2422G= (p.Glu808=) c.760G= (p.Glu254=) c.3229G= (p.Glu1077=) c.3154G= (p.Glu1052=) | |
| 4 | g.183289627G>T | CA358846418 | WWC2 | c.3376G>T (p.Glu1126Ter) c.*2768G>T (n.*2768G>T) c.*1172G>T (n.*1172G>T) c.3448G>T (p.Glu1150Ter) c.2422G>T (p.Glu808Ter) c.760G>T (p.Glu254Ter) c.3229G>T (p.Glu1077Ter) c.3154G>T (p.Glu1052Ter) | |
| 4 | g.183289628A>C | CA358846420 | WWC2 | c.3377A>C (p.Glu1126Ala) c.*2769A>C (n.*2769A>C) c.*1173A>C (n.*1173A>C) c.3449A>C (p.Glu1150Ala) c.2423A>C (p.Glu808Ala) c.761A>C (p.Glu254Ala) c.3230A>C (p.Glu1077Ala) c.3155A>C (p.Glu1052Ala) | |
| 4 | g.183289628A>G | CA358846422 | WWC2 | c.3377A>G (p.Glu1126Gly) c.*2769A>G (n.*2769A>G) c.*1173A>G (n.*1173A>G) c.3449A>G (p.Glu1150Gly) c.2423A>G (p.Glu808Gly) c.761A>G (p.Glu254Gly) c.3230A>G (p.Glu1077Gly) c.3155A>G (p.Glu1052Gly) | |
| 4 | g.183289628A>T | CA358846421 | WWC2 | c.3377A>T (p.Glu1126Val) c.*2769A>T (n.*2769A>T) c.*1173A>T (n.*1173A>T) c.3449A>T (p.Glu1150Val) c.2423A>T (p.Glu808Val) c.761A>T (p.Glu254Val) c.3230A>T (p.Glu1077Val) c.3155A>T (p.Glu1052Val) | |
| 4 | g.183289629G>A | CA442557727 | WWC2 | c.3378G>A (p.Glu1126=) c.*2770G>A (n.*2770G>A) c.*1174G>A (n.*1174G>A) c.3450G>A (p.Glu1150=) c.2424G>A (p.Glu808=) c.762G>A (p.Glu254=) c.3231G>A (p.Glu1077=) c.3156G>A (p.Glu1052=) | gnomAD v4 |
| 4 | g.183289629G>C | CA358846423 | WWC2 | c.3378G>C (p.Glu1126Asp) c.*2770G>C (n.*2770G>C) c.*1174G>C (n.*1174G>C) c.3450G>C (p.Glu1150Asp) c.2424G>C (p.Glu808Asp) c.762G>C (p.Glu254Asp) c.3231G>C (p.Glu1077Asp) c.3156G>C (p.Glu1052Asp) | |
| 4 | g.183289629G>T | CA358846424 | WWC2 | c.3378G>T (p.Glu1126Asp) c.*2770G>T (n.*2770G>T) c.*1174G>T (n.*1174G>T) c.3450G>T (p.Glu1150Asp) c.2424G>T (p.Glu808Asp) c.762G>T (p.Glu254Asp) c.3231G>T (p.Glu1077Asp) c.3156G>T (p.Glu1052Asp) | |
| 4 | g.183289630A>C | CA358846425 | WWC2 | c.3379A>C (p.Lys1127Gln) c.*2771A>C (n.*2771A>C) c.*1175A>C (n.*1175A>C) c.3451A>C (p.Lys1151Gln) c.2425A>C (p.Lys809Gln) c.763A>C (p.Lys255Gln) c.3232A>C (p.Lys1078Gln) c.3157A>C (p.Lys1053Gln) | |
| 4 | g.183289630A>G | CA358846426 | WWC2 | c.3379A>G (p.Lys1127Glu) c.*2771A>G (n.*2771A>G) c.*1175A>G (n.*1175A>G) c.3451A>G (p.Lys1151Glu) c.2425A>G (p.Lys809Glu) c.763A>G (p.Lys255Glu) c.3232A>G (p.Lys1078Glu) c.3157A>G (p.Lys1053Glu) | gnomAD v4 |
| 4 | g.183289630A>T | CA358846427 | WWC2 | c.3379A>T (p.Lys1127Ter) c.*2771A>T (n.*2771A>T) c.*1175A>T (n.*1175A>T) c.3451A>T (p.Lys1151Ter) c.2425A>T (p.Lys809Ter) c.763A>T (p.Lys255Ter) c.3232A>T (p.Lys1078Ter) c.3157A>T (p.Lys1053Ter) | |
| 4 | g.183289631A>C | CA358846428 | WWC2 | c.3380A>C (p.Lys1127Thr) c.*2772A>C (n.*2772A>C) c.*1176A>C (n.*1176A>C) c.3452A>C (p.Lys1151Thr) c.2426A>C (p.Lys809Thr) c.764A>C (p.Lys255Thr) c.3233A>C (p.Lys1078Thr) c.3158A>C (p.Lys1053Thr) | |
| 4 | g.183289631A>G | CA358846429 | WWC2 | c.3380A>G (p.Lys1127Arg) c.*2772A>G (n.*2772A>G) c.*1176A>G (n.*1176A>G) c.3452A>G (p.Lys1151Arg) c.2426A>G (p.Lys809Arg) c.764A>G (p.Lys255Arg) c.3233A>G (p.Lys1078Arg) c.3158A>G (p.Lys1053Arg) | |
| 4 | g.183289631A>T | CA358846430 | WWC2 | c.3380A>T (p.Lys1127Met) c.*2772A>T (n.*2772A>T) c.*1176A>T (n.*1176A>T) c.3452A>T (p.Lys1151Met) c.2426A>T (p.Lys809Met) c.764A>T (p.Lys255Met) c.3233A>T (p.Lys1078Met) c.3158A>T (p.Lys1053Met) | |
| 4 | g.183289632G>A | CA442557728 | WWC2 | c.3381G>A (p.Lys1127=) c.*2773G>A (n.*2773G>A) c.*1177G>A (n.*1177G>A) c.3453G>A (p.Lys1151=) c.2427G>A (p.Lys809=) c.765G>A (p.Lys255=) c.3234G>A (p.Lys1078=) c.3159G>A (p.Lys1053=) | |
| 4 | g.183289632G>C | CA358846431 | WWC2 | c.3381G>C (p.Lys1127Asn) c.*2773G>C (n.*2773G>C) c.*1177G>C (n.*1177G>C) c.3453G>C (p.Lys1151Asn) c.2427G>C (p.Lys809Asn) c.765G>C (p.Lys255Asn) c.3234G>C (p.Lys1078Asn) c.3159G>C (p.Lys1053Asn) | |
| 4 | g.183289632G>T | CA358846432 | WWC2 | c.3381G>T (p.Lys1127Asn) c.*2773G>T (n.*2773G>T) c.*1177G>T (n.*1177G>T) c.3453G>T (p.Lys1151Asn) c.2427G>T (p.Lys809Asn) c.765G>T (p.Lys255Asn) c.3234G>T (p.Lys1078Asn) c.3159G>T (p.Lys1053Asn) | |
| 4 | g.183289633C>A | CA358846433 | WWC2 | c.3382C>A (p.Gln1128Lys) c.*2774C>A (n.*2774C>A) c.*1178C>A (n.*1178C>A) c.3454C>A (p.Gln1152Lys) c.2428C>A (p.Gln810Lys) c.766C>A (p.Gln256Lys) c.3235C>A (p.Gln1079Lys) c.3160C>A (p.Gln1054Lys) | |
| 4 | g.183289633C>G | CA358846434 | WWC2 | c.3382C>G (p.Gln1128Glu) c.*2774C>G (n.*2774C>G) c.*1178C>G (n.*1178C>G) c.3454C>G (p.Gln1152Glu) c.2428C>G (p.Gln810Glu) c.766C>G (p.Gln256Glu) c.3235C>G (p.Gln1079Glu) c.3160C>G (p.Gln1054Glu) | |
| 4 | g.183289633C>T | CA358846435 | WWC2 | c.3382C>T (p.Gln1128Ter) c.*2774C>T (n.*2774C>T) c.*1178C>T (n.*1178C>T) c.3454C>T (p.Gln1152Ter) c.2428C>T (p.Gln810Ter) c.766C>T (p.Gln256Ter) c.3235C>T (p.Gln1079Ter) c.3160C>T (p.Gln1054Ter) | |
| 4 | g.183289634A>C | CA358846436 | WWC2 | c.3383A>C (p.Gln1128Pro) c.*2775A>C (n.*2775A>C) c.*1179A>C (n.*1179A>C) c.3455A>C (p.Gln1152Pro) c.2429A>C (p.Gln810Pro) c.767A>C (p.Gln256Pro) c.3236A>C (p.Gln1079Pro) c.3161A>C (p.Gln1054Pro) | |
| 4 | g.183289634A>G | CA358846438 | WWC2 | c.3383A>G (p.Gln1128Arg) c.*2775A>G (n.*2775A>G) c.*1179A>G (n.*1179A>G) c.3455A>G (p.Gln1152Arg) c.2429A>G (p.Gln810Arg) c.767A>G (p.Gln256Arg) c.3236A>G (p.Gln1079Arg) c.3161A>G (p.Gln1054Arg) | gnomAD v4 |
| 4 | g.183289634A>T | CA358846437 | WWC2 | c.3383A>T (p.Gln1128Leu) c.*2775A>T (n.*2775A>T) c.*1179A>T (n.*1179A>T) c.3455A>T (p.Gln1152Leu) c.2429A>T (p.Gln810Leu) c.767A>T (p.Gln256Leu) c.3236A>T (p.Gln1079Leu) c.3161A>T (p.Gln1054Leu) | |
| 4 | g.183289635G>A | CA442557729 | WWC2 | c.3384G>A (p.Gln1128=) c.*2776G>A (n.*2776G>A) c.*1180G>A (n.*1180G>A) c.3456G>A (p.Gln1152=) c.2430G>A (p.Gln810=) c.768G>A (p.Gln256=) c.3237G>A (p.Gln1079=) c.3162G>A (p.Gln1054=) | |
| 4 | g.183289635G>C | CA358846439 | WWC2 | c.3384G>C (p.Gln1128His) c.*2776G>C (n.*2776G>C) c.*1180G>C (n.*1180G>C) c.3456G>C (p.Gln1152His) c.2430G>C (p.Gln810His) c.768G>C (p.Gln256His) c.3237G>C (p.Gln1079His) c.3162G>C (p.Gln1054His) | |
| 4 | g.183289635G>T | CA358846440 | WWC2 | c.3384G>T (p.Gln1128His) c.*2776G>T (n.*2776G>T) c.*1180G>T (n.*1180G>T) c.3456G>T (p.Gln1152His) c.2430G>T (p.Gln810His) c.768G>T (p.Gln256His) c.3237G>T (p.Gln1079His) c.3162G>T (p.Gln1054His) | |
| 4 | g.183289636G>A | CA358846441 | WWC2 | c.3384+1G>A (n.3384+1G>A) c.*2776+1G>A (n.*2776+1G>A) c.*1180+1G>A (n.*1180+1G>A) c.3456+1G>A (n.3456+1G>A) c.2430+1G>A (n.2430+1G>A) c.768+1G>A (n.768+1G>A) c.3237+1G>A (n.3237+1G>A) c.3162+1G>A (n.3162+1G>A) | |
| 4 | g.183289636G>C | CA358846442 | WWC2 | c.3384+1G>C (n.3384+1G>C) c.*2776+1G>C (n.*2776+1G>C) c.*1180+1G>C (n.*1180+1G>C) c.3456+1G>C (n.3456+1G>C) c.2430+1G>C (n.2430+1G>C) c.768+1G>C (n.768+1G>C) c.3237+1G>C (n.3237+1G>C) c.3162+1G>C (n.3162+1G>C) | |
| 4 | g.183289636G>T | CA358846443 | WWC2 | c.3384+1G>T (n.3384+1G>T) c.*2776+1G>T (n.*2776+1G>T) c.*1180+1G>T (n.*1180+1G>T) c.3456+1G>T (n.3456+1G>T) c.2430+1G>T (n.2430+1G>T) c.768+1G>T (n.768+1G>T) c.3237+1G>T (n.3237+1G>T) c.3162+1G>T (n.3162+1G>T) | |
| 4 | g.183289637T>A | CA358846444 | WWC2 | c.3384+2T>A (n.3384+2T>A) c.*2776+2T>A (n.*2776+2T>A) c.*1180+2T>A (n.*1180+2T>A) c.3456+2T>A (n.3456+2T>A) c.2430+2T>A (n.2430+2T>A) c.768+2T>A (n.768+2T>A) c.3237+2T>A (n.3237+2T>A) c.3162+2T>A (n.3162+2T>A) | |
| 4 | g.183289637T>C | CA358846445 | WWC2 | c.3384+2T>C (n.3384+2T>C) c.*2776+2T>C (n.*2776+2T>C) c.*1180+2T>C (n.*1180+2T>C) c.3456+2T>C (n.3456+2T>C) c.2430+2T>C (n.2430+2T>C) c.768+2T>C (n.768+2T>C) c.3237+2T>C (n.3237+2T>C) c.3162+2T>C (n.3162+2T>C) | dbSNP |
| 4 | g.183289637T>G | CA358846446 | WWC2 | c.3384+2T>G (n.3384+2T>G) c.*2776+2T>G (n.*2776+2T>G) c.*1180+2T>G (n.*1180+2T>G) c.3456+2T>G (n.3456+2T>G) c.2430+2T>G (n.2430+2T>G) c.768+2T>G (n.768+2T>G) c.3237+2T>G (n.3237+2T>G) c.3162+2T>G (n.3162+2T>G) | dbSNP |
| 4 | g.183289637T= | CA1518546776 | WWC2 | c.3384+2T= (n.3384+2T=) c.*2776+2T= (n.*2776+2T=) c.*1180+2T= (n.*1180+2T=) c.3456+2T= (n.3456+2T=) c.2430+2T= (n.2430+2T=) c.768+2T= (n.768+2T=) c.3237+2T= (n.3237+2T=) c.3162+2T= (n.3162+2T=) | |
| 4 | g.183289639C= | CA1518546777 | WWC2 | c.3384+4C= (n.3384+4C=) c.*2776+4C= (n.*2776+4C=) c.*1180+4C= (n.*1180+4C=) c.3456+4C= (n.3456+4C=) c.2430+4C= (n.2430+4C=) c.768+4C= (n.768+4C=) c.3237+4C= (n.3237+4C=) c.3162+4C= (n.3162+4C=) | |
| 4 | g.183289639C>G | CA2672776335 | WWC2 | c.3384+4C>G (n.3384+4C>G) c.*2776+4C>G (n.*2776+4C>G) c.*1180+4C>G (n.*1180+4C>G) c.3456+4C>G (n.3456+4C>G) c.2430+4C>G (n.2430+4C>G) c.768+4C>G (n.768+4C>G) c.3237+4C>G (n.3237+4C>G) c.3162+4C>G (n.3162+4C>G) | gnomAD v4 |
| 4 | g.183289639C>T | CA3150330 | WWC2 | c.3384+4C>T (n.3384+4C>T) c.*2776+4C>T (n.*2776+4C>T) c.*1180+4C>T (n.*1180+4C>T) c.3456+4C>T (n.3456+4C>T) c.2430+4C>T (n.2430+4C>T) c.768+4C>T (n.768+4C>T) c.3237+4C>T (n.3237+4C>T) c.3162+4C>T (n.3162+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289640G>A | CA3150331 | WWC2 | c.3384+5G>A (n.3384+5G>A) c.*2776+5G>A (n.*2776+5G>A) c.*1180+5G>A (n.*1180+5G>A) c.3456+5G>A (n.3456+5G>A) c.2430+5G>A (n.2430+5G>A) c.768+5G>A (n.768+5G>A) c.3237+5G>A (n.3237+5G>A) c.3162+5G>A (n.3162+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289640G= | CA1518546778 | WWC2 | c.3384+5G= (n.3384+5G=) c.*2776+5G= (n.*2776+5G=) c.*1180+5G= (n.*1180+5G=) c.3456+5G= (n.3456+5G=) c.2430+5G= (n.2430+5G=) c.768+5G= (n.768+5G=) c.3237+5G= (n.3237+5G=) c.3162+5G= (n.3162+5G=) | |
| 4 | g.183289641C>T | CA2764796789 | WWC2 | c.3384+6C>T (n.3384+6C>T) c.*2776+6C>T (n.*2776+6C>T) c.*1180+6C>T (n.*1180+6C>T) c.3456+6C>T (n.3456+6C>T) c.2430+6C>T (n.2430+6C>T) c.768+6C>T (n.768+6C>T) c.3237+6C>T (n.3237+6C>T) c.3162+6C>T (n.3162+6C>T) | |
| 4 | g.183289642A>T | CA2578240403 | WWC2 | c.3384+7A>T (n.3384+7A>T) c.*2776+7A>T (n.*2776+7A>T) c.*1180+7A>T (n.*1180+7A>T) c.3456+7A>T (n.3456+7A>T) c.2430+7A>T (n.2430+7A>T) c.768+7A>T (n.768+7A>T) c.3237+7A>T (n.3237+7A>T) c.3162+7A>T (n.3162+7A>T) | |
| 4 | g.183289644C= | CA1518546779 | WWC2 | c.3384+9C= (n.3384+9C=) c.*2776+9C= (n.*2776+9C=) c.*1180+9C= (n.*1180+9C=) c.3456+9C= (n.3456+9C=) c.2430+9C= (n.2430+9C=) c.768+9C= (n.768+9C=) c.3237+9C= (n.3237+9C=) c.3162+9C= (n.3162+9C=) | |
| 4 | g.183289644C>G | CA3150332 | WWC2 | c.3384+9C>G (n.3384+9C>G) c.*2776+9C>G (n.*2776+9C>G) c.*1180+9C>G (n.*1180+9C>G) c.3456+9C>G (n.3456+9C>G) c.2430+9C>G (n.2430+9C>G) c.768+9C>G (n.768+9C>G) c.3237+9C>G (n.3237+9C>G) c.3162+9C>G (n.3162+9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289644C>T | CA792055262 | WWC2 | c.3384+9C>T (n.3384+9C>T) c.*2776+9C>T (n.*2776+9C>T) c.*1180+9C>T (n.*1180+9C>T) c.3456+9C>T (n.3456+9C>T) c.2430+9C>T (n.2430+9C>T) c.768+9C>T (n.768+9C>T) c.3237+9C>T (n.3237+9C>T) c.3162+9C>T (n.3162+9C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289646C>A | CA2672776336 | WWC2 | c.3384+11C>A (n.3384+11C>A) c.*2776+11C>A (n.*2776+11C>A) c.*1180+11C>A (n.*1180+11C>A) c.3456+11C>A (n.3456+11C>A) c.2430+11C>A (n.2430+11C>A) c.768+11C>A (n.768+11C>A) c.3237+11C>A (n.3237+11C>A) c.3162+11C>A (n.3162+11C>A) | gnomAD v4 |
| 4 | g.183289647A= | CA1518546780 | WWC2 | c.3384+12A= (n.3384+12A=) c.*2776+12A= (n.*2776+12A=) c.*1180+12A= (n.*1180+12A=) c.3456+12A= (n.3456+12A=) c.2430+12A= (n.2430+12A=) c.768+12A= (n.768+12A=) c.3237+12A= (n.3237+12A=) c.3162+12A= (n.3162+12A=) | |
| 4 | g.183289647A>C | CA2578240404 | WWC2 | c.3384+12A>C (n.3384+12A>C) c.*2776+12A>C (n.*2776+12A>C) c.*1180+12A>C (n.*1180+12A>C) c.3456+12A>C (n.3456+12A>C) c.2430+12A>C (n.2430+12A>C) c.768+12A>C (n.768+12A>C) c.3237+12A>C (n.3237+12A>C) c.3162+12A>C (n.3162+12A>C) | gnomAD v4 |
| 4 | g.183289647A>G | CA792055269 | WWC2 | c.3384+12A>G (n.3384+12A>G) c.*2776+12A>G (n.*2776+12A>G) c.*1180+12A>G (n.*1180+12A>G) c.3456+12A>G (n.3456+12A>G) c.2430+12A>G (n.2430+12A>G) c.768+12A>G (n.768+12A>G) c.3237+12A>G (n.3237+12A>G) c.3162+12A>G (n.3162+12A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289647A>T | CA1518546781 | WWC2 | c.3384+12A>T (n.3384+12A>T) c.*2776+12A>T (n.*2776+12A>T) c.*1180+12A>T (n.*1180+12A>T) c.3456+12A>T (n.3456+12A>T) c.2430+12A>T (n.2430+12A>T) c.768+12A>T (n.768+12A>T) c.3237+12A>T (n.3237+12A>T) c.3162+12A>T (n.3162+12A>T) | dbSNP |