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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.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 |
| 4 | g.183289649G>A | CA3150333 | WWC2 | c.3384+14G>A (n.3384+14G>A) c.*2776+14G>A (n.*2776+14G>A) c.*1180+14G>A (n.*1180+14G>A) c.3456+14G>A (n.3456+14G>A) c.2430+14G>A (n.2430+14G>A) c.768+14G>A (n.768+14G>A) c.3237+14G>A (n.3237+14G>A) c.3162+14G>A (n.3162+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289649G= | CA1518546782 | WWC2 | c.3384+14G= (n.3384+14G=) c.*2776+14G= (n.*2776+14G=) c.*1180+14G= (n.*1180+14G=) c.3456+14G= (n.3456+14G=) c.2430+14G= (n.2430+14G=) c.768+14G= (n.768+14G=) c.3237+14G= (n.3237+14G=) c.3162+14G= (n.3162+14G=) | |
| 4 | g.183289649G>T | CA2672776337 | WWC2 | c.3384+14G>T (n.3384+14G>T) c.*2776+14G>T (n.*2776+14G>T) c.*1180+14G>T (n.*1180+14G>T) c.3456+14G>T (n.3456+14G>T) c.2430+14G>T (n.2430+14G>T) c.768+14G>T (n.768+14G>T) c.3237+14G>T (n.3237+14G>T) c.3162+14G>T (n.3162+14G>T) | gnomAD v4 |
| 4 | g.183289650G>A | CA2578240405 | WWC2 | c.3384+15G>A (n.3384+15G>A) c.*2776+15G>A (n.*2776+15G>A) c.*1180+15G>A (n.*1180+15G>A) c.3456+15G>A (n.3456+15G>A) c.2430+15G>A (n.2430+15G>A) c.768+15G>A (n.768+15G>A) c.3237+15G>A (n.3237+15G>A) c.3162+15G>A (n.3162+15G>A) | |
| 4 | g.183289650G>C | CA2672776338 | WWC2 | c.3384+15G>C (n.3384+15G>C) c.*2776+15G>C (n.*2776+15G>C) c.*1180+15G>C (n.*1180+15G>C) c.3456+15G>C (n.3456+15G>C) c.2430+15G>C (n.2430+15G>C) c.768+15G>C (n.768+15G>C) c.3237+15G>C (n.3237+15G>C) c.3162+15G>C (n.3162+15G>C) | gnomAD v4 |
| 4 | g.183289651T>G | CA1518546784 | WWC2 | c.3384+16T>G (n.3384+16T>G) c.*2776+16T>G (n.*2776+16T>G) c.*1180+16T>G (n.*1180+16T>G) c.3456+16T>G (n.3456+16T>G) c.2430+16T>G (n.2430+16T>G) c.768+16T>G (n.768+16T>G) c.3237+16T>G (n.3237+16T>G) c.3162+16T>G (n.3162+16T>G) | dbSNP |
| 4 | g.183289651T= | CA1518546783 | WWC2 | c.3384+16T= (n.3384+16T=) c.*2776+16T= (n.*2776+16T=) c.*1180+16T= (n.*1180+16T=) c.3456+16T= (n.3456+16T=) c.2430+16T= (n.2430+16T=) c.768+16T= (n.768+16T=) c.3237+16T= (n.3237+16T=) c.3162+16T= (n.3162+16T=) | |
| 4 | g.183289652C= | CA1518546785 | WWC2 | c.3384+17C= (n.3384+17C=) c.*2776+17C= (n.*2776+17C=) c.*1180+17C= (n.*1180+17C=) c.3456+17C= (n.3456+17C=) c.2430+17C= (n.2430+17C=) c.768+17C= (n.768+17C=) c.3237+17C= (n.3237+17C=) c.3162+17C= (n.3162+17C=) | |
| 4 | g.183289652C>T | CA792055277 | WWC2 | c.3384+17C>T (n.3384+17C>T) c.*2776+17C>T (n.*2776+17C>T) c.*1180+17C>T (n.*1180+17C>T) c.3456+17C>T (n.3456+17C>T) c.2430+17C>T (n.2430+17C>T) c.768+17C>T (n.768+17C>T) c.3237+17C>T (n.3237+17C>T) c.3162+17C>T (n.3162+17C>T) | dbSNP |
| 4 | g.183289654G>A | CA2707766253 | WWC2 | c.3384+19G>A (n.3384+19G>A) c.*2776+19G>A (n.*2776+19G>A) c.*1180+19G>A (n.*1180+19G>A) c.3456+19G>A (n.3456+19G>A) c.2430+19G>A (n.2430+19G>A) c.768+19G>A (n.768+19G>A) c.3237+19G>A (n.3237+19G>A) c.3162+19G>A (n.3162+19G>A) | dbSNP |
| 4 | g.183289655T>C | CA2578240406 | WWC2 | c.3384+20T>C (n.3384+20T>C) c.*2776+20T>C (n.*2776+20T>C) c.*1180+20T>C (n.*1180+20T>C) c.3456+20T>C (n.3456+20T>C) c.2430+20T>C (n.2430+20T>C) c.768+20T>C (n.768+20T>C) c.3237+20T>C (n.3237+20T>C) c.3162+20T>C (n.3162+20T>C) | |
| 4 | g.183289656C>A | CA2672776339 | WWC2 | c.3384+21C>A (n.3384+21C>A) c.*2776+21C>A (n.*2776+21C>A) c.*1180+21C>A (n.*1180+21C>A) c.3456+21C>A (n.3456+21C>A) c.2430+21C>A (n.2430+21C>A) c.768+21C>A (n.768+21C>A) c.3237+21C>A (n.3237+21C>A) c.3162+21C>A (n.3162+21C>A) | gnomAD v4 |
| 4 | g.183289656C= | CA1518546786 | WWC2 | c.3384+21C= (n.3384+21C=) c.*2776+21C= (n.*2776+21C=) c.*1180+21C= (n.*1180+21C=) c.3456+21C= (n.3456+21C=) c.2430+21C= (n.2430+21C=) c.768+21C= (n.768+21C=) c.3237+21C= (n.3237+21C=) c.3162+21C= (n.3162+21C=) | |
| 4 | g.183289656C>T | CA3150334 | WWC2 | c.3384+21C>T (n.3384+21C>T) c.*2776+21C>T (n.*2776+21C>T) c.*1180+21C>T (n.*1180+21C>T) c.3456+21C>T (n.3456+21C>T) c.2430+21C>T (n.2430+21C>T) c.768+21C>T (n.768+21C>T) c.3237+21C>T (n.3237+21C>T) c.3162+21C>T (n.3162+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289657A= | CA1518546787 | WWC2 | c.3384+22A= (n.3384+22A=) c.*2776+22A= (n.*2776+22A=) c.*1180+22A= (n.*1180+22A=) c.3456+22A= (n.3456+22A=) c.2430+22A= (n.2430+22A=) c.768+22A= (n.768+22A=) c.3237+22A= (n.3237+22A=) c.3162+22A= (n.3162+22A=) | |
| 4 | g.183289657A>T | CA111773654 | WWC2 | c.3384+22A>T (n.3384+22A>T) c.*2776+22A>T (n.*2776+22A>T) c.*1180+22A>T (n.*1180+22A>T) c.3456+22A>T (n.3456+22A>T) c.2430+22A>T (n.2430+22A>T) c.768+22A>T (n.768+22A>T) c.3237+22A>T (n.3237+22A>T) c.3162+22A>T (n.3162+22A>T) | dbSNP |
| 4 | g.183289658T>C | CA1518546789 | WWC2 | c.3384+23T>C (n.3384+23T>C) c.*2776+23T>C (n.*2776+23T>C) c.*1180+23T>C (n.*1180+23T>C) c.3456+23T>C (n.3456+23T>C) c.2430+23T>C (n.2430+23T>C) c.768+23T>C (n.768+23T>C) c.3237+23T>C (n.3237+23T>C) c.3162+23T>C (n.3162+23T>C) | dbSNP gnomAD v4 |
| 4 | g.183289658T= | CA1518546788 | WWC2 | c.3384+23T= (n.3384+23T=) c.*2776+23T= (n.*2776+23T=) c.*1180+23T= (n.*1180+23T=) c.3456+23T= (n.3456+23T=) c.2430+23T= (n.2430+23T=) c.768+23T= (n.768+23T=) c.3237+23T= (n.3237+23T=) c.3162+23T= (n.3162+23T=) | |
| 4 | g.183289661C= | CA1518546790 | WWC2 | c.3384+26C= (n.3384+26C=) c.*2776+26C= (n.*2776+26C=) c.*1180+26C= (n.*1180+26C=) c.3456+26C= (n.3456+26C=) c.2430+26C= (n.2430+26C=) c.768+26C= (n.768+26C=) c.3237+26C= (n.3237+26C=) c.3162+26C= (n.3162+26C=) | |
| 4 | g.183289661C>G | CA3150336 | WWC2 | c.3384+26C>G (n.3384+26C>G) c.*2776+26C>G (n.*2776+26C>G) c.*1180+26C>G (n.*1180+26C>G) c.3456+26C>G (n.3456+26C>G) c.2430+26C>G (n.2430+26C>G) c.768+26C>G (n.768+26C>G) c.3237+26C>G (n.3237+26C>G) c.3162+26C>G (n.3162+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289661C>T | CA3150335 | WWC2 | c.3384+26C>T (n.3384+26C>T) c.*2776+26C>T (n.*2776+26C>T) c.*1180+26C>T (n.*1180+26C>T) c.3456+26C>T (n.3456+26C>T) c.2430+26C>T (n.2430+26C>T) c.768+26C>T (n.768+26C>T) c.3237+26C>T (n.3237+26C>T) c.3162+26C>T (n.3162+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289661_183289662delinsCG | CA1518546791 | WWC2 | c.3384+26_3384+27delinsCG (n.3384+26_3384+27delinsCG) c.*2776+26_*2776+27delinsCG (n.*2776+26_*2776+27delinsCG) c.*1180+26_*1180+27delinsCG (n.*1180+26_*1180+27delinsCG) c.3456+26_3456+27delinsCG (n.3456+26_3456+27delinsCG) c.2430+26_2430+27delinsCG (n.2430+26_2430+27delinsCG) c.768+26_768+27delinsCG (n.768+26_768+27delinsCG) c.3237+26_3237+27delinsCG (n.3237+26_3237+27delinsCG) c.3162+26_3162+27delinsCG (n.3162+26_3162+27delinsCG) | |
| 4 | g.183289662G>A | CA3150338 | WWC2 | c.3384+27G>A (n.3384+27G>A) c.*2776+27G>A (n.*2776+27G>A) c.*1180+27G>A (n.*1180+27G>A) c.3456+27G>A (n.3456+27G>A) c.2430+27G>A (n.2430+27G>A) c.768+27G>A (n.768+27G>A) c.3237+27G>A (n.3237+27G>A) c.3162+27G>A (n.3162+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289662G>C | CA1071760761 | WWC2 | c.3384+27G>C (n.3384+27G>C) c.*2776+27G>C (n.*2776+27G>C) c.*1180+27G>C (n.*1180+27G>C) c.3456+27G>C (n.3456+27G>C) c.2430+27G>C (n.2430+27G>C) c.768+27G>C (n.768+27G>C) c.3237+27G>C (n.3237+27G>C) c.3162+27G>C (n.3162+27G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289662G= | CA1518546792 | WWC2 | c.3384+27G= (n.3384+27G=) c.*2776+27G= (n.*2776+27G=) c.*1180+27G= (n.*1180+27G=) c.3456+27G= (n.3456+27G=) c.2430+27G= (n.2430+27G=) c.768+27G= (n.768+27G=) c.3237+27G= (n.3237+27G=) c.3162+27G= (n.3162+27G=) | |
| 4 | g.183289663del | CA3150337 | WWC2 | c.3384+28del (n.3384+28del) c.*2776+28del (n.*2776+28del) c.*1180+28del (n.*1180+28del) c.3456+28del (n.3456+28del) c.2430+28del (n.2430+28del) c.768+28del (n.768+28del) c.3237+28del (n.3237+28del) c.3162+28del (n.3162+28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289663G>A | CA1518546794 | WWC2 | c.3384+28G>A (n.3384+28G>A) c.*2776+28G>A (n.*2776+28G>A) c.*1180+28G>A (n.*1180+28G>A) c.3456+28G>A (n.3456+28G>A) c.2430+28G>A (n.2430+28G>A) c.768+28G>A (n.768+28G>A) c.3237+28G>A (n.3237+28G>A) c.3162+28G>A (n.3162+28G>A) | dbSNP |
| 4 | g.183289663G= | CA1518546793 | WWC2 | c.3384+28G= (n.3384+28G=) c.*2776+28G= (n.*2776+28G=) c.*1180+28G= (n.*1180+28G=) c.3456+28G= (n.3456+28G=) c.2430+28G= (n.2430+28G=) c.768+28G= (n.768+28G=) c.3237+28G= (n.3237+28G=) c.3162+28G= (n.3162+28G=) | |
| 4 | g.183289663G>T | CA557393630 | WWC2 | c.3384+28G>T (n.3384+28G>T) c.*2776+28G>T (n.*2776+28G>T) c.*1180+28G>T (n.*1180+28G>T) c.3456+28G>T (n.3456+28G>T) c.2430+28G>T (n.2430+28G>T) c.768+28G>T (n.768+28G>T) c.3237+28G>T (n.3237+28G>T) c.3162+28G>T (n.3162+28G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289664A= | CA1518546795 | WWC2 | c.3384+29A= (n.3384+29A=) c.*2776+29A= (n.*2776+29A=) c.*1180+29A= (n.*1180+29A=) c.3456+29A= (n.3456+29A=) c.2430+29A= (n.2430+29A=) c.768+29A= (n.768+29A=) c.3237+29A= (n.3237+29A=) c.3162+29A= (n.3162+29A=) | |
| 4 | g.183289665G>C | CA111773707 | WWC2 | c.3384+30G>C (n.3384+30G>C) c.*2776+30G>C (n.*2776+30G>C) c.*1180+30G>C (n.*1180+30G>C) c.3456+30G>C (n.3456+30G>C) c.2430+30G>C (n.2430+30G>C) c.768+30G>C (n.768+30G>C) c.3237+30G>C (n.3237+30G>C) c.3162+30G>C (n.3162+30G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183289665G= | CA1518546796 | WWC2 | c.3384+30G= (n.3384+30G=) c.*2776+30G= (n.*2776+30G=) c.*1180+30G= (n.*1180+30G=) c.3456+30G= (n.3456+30G=) c.2430+30G= (n.2430+30G=) c.768+30G= (n.768+30G=) c.3237+30G= (n.3237+30G=) c.3162+30G= (n.3162+30G=) | |
| 4 | g.183289668dup | CA3150339 | WWC2 | c.3384+33dup (n.3384+33dup) c.*2776+33dup (n.*2776+33dup) c.*1180+33dup (n.*1180+33dup) c.3456+33dup (n.3456+33dup) c.2430+33dup (n.2430+33dup) c.768+33dup (n.768+33dup) c.3237+33dup (n.3237+33dup) c.3162+33dup (n.3162+33dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289666G= | CA1518546797 | WWC2 | c.3384+31G= (n.3384+31G=) c.*2776+31G= (n.*2776+31G=) c.*1180+31G= (n.*1180+31G=) c.3456+31G= (n.3456+31G=) c.2430+31G= (n.2430+31G=) c.768+31G= (n.768+31G=) c.3237+31G= (n.3237+31G=) c.3162+31G= (n.3162+31G=) | |
| 4 | g.183289666G>T | CA111773718 | WWC2 | c.3384+31G>T (n.3384+31G>T) c.*2776+31G>T (n.*2776+31G>T) c.*1180+31G>T (n.*1180+31G>T) c.3456+31G>T (n.3456+31G>T) c.2430+31G>T (n.2430+31G>T) c.768+31G>T (n.768+31G>T) c.3237+31G>T (n.3237+31G>T) c.3162+31G>T (n.3162+31G>T) | dbSNP gnomAD v4 |
| 4 | g.183289667G>A | CA557393631 | WWC2 | c.3384+32G>A (n.3384+32G>A) c.*2776+32G>A (n.*2776+32G>A) c.*1180+32G>A (n.*1180+32G>A) c.3456+32G>A (n.3456+32G>A) c.2430+32G>A (n.2430+32G>A) c.768+32G>A (n.768+32G>A) c.3237+32G>A (n.3237+32G>A) c.3162+32G>A (n.3162+32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289667G= | CA1518546798 | WWC2 | c.3384+32G= (n.3384+32G=) c.*2776+32G= (n.*2776+32G=) c.*1180+32G= (n.*1180+32G=) c.3456+32G= (n.3456+32G=) c.2430+32G= (n.2430+32G=) c.768+32G= (n.768+32G=) c.3237+32G= (n.3237+32G=) c.3162+32G= (n.3162+32G=) | |
| 4 | g.183289667G>T | CA3150340 | WWC2 | c.3384+32G>T (n.3384+32G>T) c.*2776+32G>T (n.*2776+32G>T) c.*1180+32G>T (n.*1180+32G>T) c.3456+32G>T (n.3456+32G>T) c.2430+32G>T (n.2430+32G>T) c.768+32G>T (n.768+32G>T) c.3237+32G>T (n.3237+32G>T) c.3162+32G>T (n.3162+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289668G>A | CA1071760767 | WWC2 | c.3384+33G>A (n.3384+33G>A) c.*2776+33G>A (n.*2776+33G>A) c.*1180+33G>A (n.*1180+33G>A) c.3456+33G>A (n.3456+33G>A) c.2430+33G>A (n.2430+33G>A) c.768+33G>A (n.768+33G>A) c.3237+33G>A (n.3237+33G>A) c.3162+33G>A (n.3162+33G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.183289668G>C | CA557393632 | WWC2 | c.3384+33G>C (n.3384+33G>C) c.*2776+33G>C (n.*2776+33G>C) c.*1180+33G>C (n.*1180+33G>C) c.3456+33G>C (n.3456+33G>C) c.2430+33G>C (n.2430+33G>C) c.768+33G>C (n.768+33G>C) c.3237+33G>C (n.3237+33G>C) c.3162+33G>C (n.3162+33G>C) | dbSNP gnomAD v2 |
| 4 | g.183289668G= | CA1518546799 | WWC2 | c.3384+33G= (n.3384+33G=) c.*2776+33G= (n.*2776+33G=) c.*1180+33G= (n.*1180+33G=) c.3456+33G= (n.3456+33G=) c.2430+33G= (n.2430+33G=) c.768+33G= (n.768+33G=) c.3237+33G= (n.3237+33G=) c.3162+33G= (n.3162+33G=) | |
| 4 | g.183289670T>C | CA2672776340 | WWC2 | c.3384+35T>C (n.3384+35T>C) c.*2776+35T>C (n.*2776+35T>C) c.*1180+35T>C (n.*1180+35T>C) c.3456+35T>C (n.3456+35T>C) c.2430+35T>C (n.2430+35T>C) c.768+35T>C (n.768+35T>C) c.3237+35T>C (n.3237+35T>C) c.3162+35T>C (n.3162+35T>C) | gnomAD v4 |
| 4 | g.183289673C>A | CA3150341 | WWC2 | c.3384+38C>A (n.3384+38C>A) c.*2776+38C>A (n.*2776+38C>A) c.*1180+38C>A (n.*1180+38C>A) c.3456+38C>A (n.3456+38C>A) c.2430+38C>A (n.2430+38C>A) c.768+38C>A (n.768+38C>A) c.3237+38C>A (n.3237+38C>A) c.3162+38C>A (n.3162+38C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289673C= | CA1518546800 | WWC2 | c.3384+38C= (n.3384+38C=) c.*2776+38C= (n.*2776+38C=) c.*1180+38C= (n.*1180+38C=) c.3456+38C= (n.3456+38C=) c.2430+38C= (n.2430+38C=) c.768+38C= (n.768+38C=) c.3237+38C= (n.3237+38C=) c.3162+38C= (n.3162+38C=) | |
| 4 | g.183289673C>T | CA2764796790 | WWC2 | c.3384+38C>T (n.3384+38C>T) c.*2776+38C>T (n.*2776+38C>T) c.*1180+38C>T (n.*1180+38C>T) c.3456+38C>T (n.3456+38C>T) c.2430+38C>T (n.2430+38C>T) c.768+38C>T (n.768+38C>T) c.3237+38C>T (n.3237+38C>T) c.3162+38C>T (n.3162+38C>T) | |
| 4 | g.183289674A= | CA1518546801 | WWC2 | c.3384+39A= (n.3384+39A=) c.*2776+39A= (n.*2776+39A=) c.*1180+39A= (n.*1180+39A=) c.3456+39A= (n.3456+39A=) c.2430+39A= (n.2430+39A=) c.768+39A= (n.768+39A=) c.3237+39A= (n.3237+39A=) c.3162+39A= (n.3162+39A=) | |
| 4 | g.183289674A>G | CA3150342 | WWC2 | c.3384+39A>G (n.3384+39A>G) c.*2776+39A>G (n.*2776+39A>G) c.*1180+39A>G (n.*1180+39A>G) c.3456+39A>G (n.3456+39A>G) c.2430+39A>G (n.2430+39A>G) c.768+39A>G (n.768+39A>G) c.3237+39A>G (n.3237+39A>G) c.3162+39A>G (n.3162+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289676C>A | CA2672776342 | WWC2 | c.3384+41C>A (n.3384+41C>A) c.*2776+41C>A (n.*2776+41C>A) c.*1180+41C>A (n.*1180+41C>A) c.3456+41C>A (n.3456+41C>A) c.2430+41C>A (n.2430+41C>A) c.768+41C>A (n.768+41C>A) c.3237+41C>A (n.3237+41C>A) c.3162+41C>A (n.3162+41C>A) | gnomAD v4 |
| 4 | g.183289676C= | CA1518546803 | WWC2 | c.3384+41C= (n.3384+41C=) c.*2776+41C= (n.*2776+41C=) c.*1180+41C= (n.*1180+41C=) c.3456+41C= (n.3456+41C=) c.2430+41C= (n.2430+41C=) c.768+41C= (n.768+41C=) c.3237+41C= (n.3237+41C=) c.3162+41C= (n.3162+41C=) | |
| 4 | g.183289676C>G | CA2672776341 | WWC2 | c.3384+41C>G (n.3384+41C>G) c.*2776+41C>G (n.*2776+41C>G) c.*1180+41C>G (n.*1180+41C>G) c.3456+41C>G (n.3456+41C>G) c.2430+41C>G (n.2430+41C>G) c.768+41C>G (n.768+41C>G) c.3237+41C>G (n.3237+41C>G) c.3162+41C>G (n.3162+41C>G) | gnomAD v4 |
| 4 | g.183289676C>T | CA557393633 | WWC2 | c.3384+41C>T (n.3384+41C>T) c.*2776+41C>T (n.*2776+41C>T) c.*1180+41C>T (n.*1180+41C>T) c.3456+41C>T (n.3456+41C>T) c.2430+41C>T (n.2430+41C>T) c.768+41C>T (n.768+41C>T) c.3237+41C>T (n.3237+41C>T) c.3162+41C>T (n.3162+41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.183289676_183289677delinsCT | CA1518546802 | WWC2 | c.3384+41_3384+42delinsCT (n.3384+41_3384+42delinsCT) c.*2776+41_*2776+42delinsCT (n.*2776+41_*2776+42delinsCT) c.*1180+41_*1180+42delinsCT (n.*1180+41_*1180+42delinsCT) c.3456+41_3456+42delinsCT (n.3456+41_3456+42delinsCT) c.2430+41_2430+42delinsCT (n.2430+41_2430+42delinsCT) c.768+41_768+42delinsCT (n.768+41_768+42delinsCT) c.3237+41_3237+42delinsCT (n.3237+41_3237+42delinsCT) c.3162+41_3162+42delinsCT (n.3162+41_3162+42delinsCT) | |
| 4 | g.183289677T>C | CA2672776343 | WWC2 | c.3384+42T>C (n.3384+42T>C) c.*2776+42T>C (n.*2776+42T>C) c.*1180+42T>C (n.*1180+42T>C) c.3456+42T>C (n.3456+42T>C) c.2430+42T>C (n.2430+42T>C) c.768+42T>C (n.768+42T>C) c.3237+42T>C (n.3237+42T>C) c.3162+42T>C (n.3162+42T>C) | gnomAD v4 |
| 4 | g.183289683dup | CA2578240407 | WWC2 | c.3384+48dup (n.3384+48dup) c.*2776+48dup (n.*2776+48dup) c.*1180+48dup (n.*1180+48dup) c.3456+48dup (n.3456+48dup) c.2430+48dup (n.2430+48dup) c.768+48dup (n.768+48dup) c.3237+48dup (n.3237+48dup) c.3162+48dup (n.3162+48dup) | gnomAD v4 |
| 4 | g.183289683del | CA3150343 | WWC2 | c.3384+48del (n.3384+48del) c.*2776+48del (n.*2776+48del) c.*1180+48del (n.*1180+48del) c.3456+48del (n.3456+48del) c.2430+48del (n.2430+48del) c.768+48del (n.768+48del) c.3237+48del (n.3237+48del) c.3162+48del (n.3162+48del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.183289683T>C | CA1518546805 | WWC2 | c.3384+48T>C (n.3384+48T>C) c.*2776+48T>C (n.*2776+48T>C) c.*1180+48T>C (n.*1180+48T>C) c.3456+48T>C (n.3456+48T>C) c.2430+48T>C (n.2430+48T>C) c.768+48T>C (n.768+48T>C) c.3237+48T>C (n.3237+48T>C) c.3162+48T>C (n.3162+48T>C) | dbSNP |
| 4 | g.183289683T>G | CA2672776344 | WWC2 | c.3384+48T>G (n.3384+48T>G) c.*2776+48T>G (n.*2776+48T>G) c.*1180+48T>G (n.*1180+48T>G) c.3456+48T>G (n.3456+48T>G) c.2430+48T>G (n.2430+48T>G) c.768+48T>G (n.768+48T>G) c.3237+48T>G (n.3237+48T>G) c.3162+48T>G (n.3162+48T>G) | gnomAD v4 |
| 4 | g.183289683T= | CA1518546804 | WWC2 | c.3384+48T= (n.3384+48T=) c.*2776+48T= (n.*2776+48T=) c.*1180+48T= (n.*1180+48T=) c.3456+48T= (n.3456+48T=) c.2430+48T= (n.2430+48T=) c.768+48T= (n.768+48T=) c.3237+48T= (n.3237+48T=) c.3162+48T= (n.3162+48T=) |