| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28141486G>A | CA7440427 | HERC2 | c.11961C>T (p.Pro3987=) c.3672C>T (p.Pro1224=) c.11847C>T (p.Pro3949=) c.11946C>T (p.Pro3982=) c.11703C>T (p.Pro3901=) c.11478C>T (p.Pro3826=) c.9477C>T (p.Pro3159=) c.8706C>T (p.Pro2902=) c.6078C>T (p.Pro2026=) c.5127C>T (p.Pro1709=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141486G>C | CA489234689 | HERC2 | c.11961C>G (p.Pro3987=) c.3672C>G (p.Pro1224=) c.11847C>G (p.Pro3949=) c.11946C>G (p.Pro3982=) c.11703C>G (p.Pro3901=) c.11478C>G (p.Pro3826=) c.9477C>G (p.Pro3159=) c.8706C>G (p.Pro2902=) c.6078C>G (p.Pro2026=) c.5127C>G (p.Pro1709=) | |
| 15 | g.28141486G= | CA2166479850 | HERC2 | c.11961C= (p.Pro3987=) c.3672C= (p.Pro1224=) c.11847C= (p.Pro3949=) c.11946C= (p.Pro3982=) c.11703C= (p.Pro3901=) c.11478C= (p.Pro3826=) c.9477C= (p.Pro3159=) c.8706C= (p.Pro2902=) c.6078C= (p.Pro2026=) c.5127C= (p.Pro1709=) | |
| 15 | g.28141486G>T | CA489234690 | HERC2 | c.11961C>A (p.Pro3987=) c.3672C>A (p.Pro1224=) c.11847C>A (p.Pro3949=) c.11946C>A (p.Pro3982=) c.11703C>A (p.Pro3901=) c.11478C>A (p.Pro3826=) c.9477C>A (p.Pro3159=) c.8706C>A (p.Pro2902=) c.6078C>A (p.Pro2026=) c.5127C>A (p.Pro1709=) | |
| 15 | g.28141487G>A | CA391381120 | HERC2 | c.11960C>T (p.Pro3987Leu) c.3671C>T (p.Pro1224Leu) c.11846C>T (p.Pro3949Leu) c.11945C>T (p.Pro3982Leu) c.11702C>T (p.Pro3901Leu) c.11477C>T (p.Pro3826Leu) c.9476C>T (p.Pro3159Leu) c.8705C>T (p.Pro2902Leu) c.6077C>T (p.Pro2026Leu) c.5126C>T (p.Pro1709Leu) | |
| 15 | g.28141487G>C | CA391381122 | HERC2 | c.11960C>G (p.Pro3987Arg) c.3671C>G (p.Pro1224Arg) c.11846C>G (p.Pro3949Arg) c.11945C>G (p.Pro3982Arg) c.11702C>G (p.Pro3901Arg) c.11477C>G (p.Pro3826Arg) c.9476C>G (p.Pro3159Arg) c.8705C>G (p.Pro2902Arg) c.6077C>G (p.Pro2026Arg) c.5126C>G (p.Pro1709Arg) | |
| 15 | g.28141487G>T | CA391381125 | HERC2 | c.11960C>A (p.Pro3987His) c.3671C>A (p.Pro1224His) c.11846C>A (p.Pro3949His) c.11945C>A (p.Pro3982His) c.11702C>A (p.Pro3901His) c.11477C>A (p.Pro3826His) c.9476C>A (p.Pro3159His) c.8705C>A (p.Pro2902His) c.6077C>A (p.Pro2026His) c.5126C>A (p.Pro1709His) | |
| 15 | g.28141488G>A | CA391381126 | HERC2 | c.11959C>T (p.Pro3987Ser) c.3670C>T (p.Pro1224Ser) c.11845C>T (p.Pro3949Ser) c.11944C>T (p.Pro3982Ser) c.11701C>T (p.Pro3901Ser) c.11476C>T (p.Pro3826Ser) c.9475C>T (p.Pro3159Ser) c.8704C>T (p.Pro2902Ser) c.6076C>T (p.Pro2026Ser) c.5125C>T (p.Pro1709Ser) | |
| 15 | g.28141488G>C | CA391381129 | HERC2 | c.11959C>G (p.Pro3987Ala) c.3670C>G (p.Pro1224Ala) c.11845C>G (p.Pro3949Ala) c.11944C>G (p.Pro3982Ala) c.11701C>G (p.Pro3901Ala) c.11476C>G (p.Pro3826Ala) c.9475C>G (p.Pro3159Ala) c.8704C>G (p.Pro2902Ala) c.6076C>G (p.Pro2026Ala) c.5125C>G (p.Pro1709Ala) | |
| 15 | g.28141488G= | CA2166479852 | HERC2 | c.11959C= (p.Pro3987=) c.3670C= (p.Pro1224=) c.11845C= (p.Pro3949=) c.11944C= (p.Pro3982=) c.11701C= (p.Pro3901=) c.11476C= (p.Pro3826=) c.9475C= (p.Pro3159=) c.8704C= (p.Pro2902=) c.6076C= (p.Pro2026=) c.5125C= (p.Pro1709=) | |
| 15 | g.28141488G>T | CA391381132 | HERC2 | c.11959C>A (p.Pro3987Thr) c.3670C>A (p.Pro1224Thr) c.11845C>A (p.Pro3949Thr) c.11944C>A (p.Pro3982Thr) c.11701C>A (p.Pro3901Thr) c.11476C>A (p.Pro3826Thr) c.9475C>A (p.Pro3159Thr) c.8704C>A (p.Pro2902Thr) c.6076C>A (p.Pro2026Thr) c.5125C>A (p.Pro1709Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141489T>A | CA391381137 | HERC2 | c.11958A>T (p.Arg3986Ser) c.3669A>T (p.Arg1223Ser) c.11844A>T (p.Arg3948Ser) c.11943A>T (p.Arg3981Ser) c.11700A>T (p.Arg3900Ser) c.11475A>T (p.Arg3825Ser) c.9474A>T (p.Arg3158Ser) c.8703A>T (p.Arg2901Ser) c.6075A>T (p.Arg2025Ser) c.5124A>T (p.Arg1708Ser) | |
| 15 | g.28141489T>C | CA489234691 | HERC2 | c.11958A>G (p.Arg3986=) c.3669A>G (p.Arg1223=) c.11844A>G (p.Arg3948=) c.11943A>G (p.Arg3981=) c.11700A>G (p.Arg3900=) c.11475A>G (p.Arg3825=) c.9474A>G (p.Arg3158=) c.8703A>G (p.Arg2901=) c.6075A>G (p.Arg2025=) c.5124A>G (p.Arg1708=) | gnomAD v4 |
| 15 | g.28141489T>G | CA391381134 | HERC2 | c.11958A>C (p.Arg3986Ser) c.3669A>C (p.Arg1223Ser) c.11844A>C (p.Arg3948Ser) c.11943A>C (p.Arg3981Ser) c.11700A>C (p.Arg3900Ser) c.11475A>C (p.Arg3825Ser) c.9474A>C (p.Arg3158Ser) c.8703A>C (p.Arg2901Ser) c.6075A>C (p.Arg2025Ser) c.5124A>C (p.Arg1708Ser) | |
| 15 | g.28141490C>A | CA391381140 | HERC2 | c.11957G>T (p.Arg3986Ile) c.3668G>T (p.Arg1223Ile) c.11843G>T (p.Arg3948Ile) c.11942G>T (p.Arg3981Ile) c.11699G>T (p.Arg3900Ile) c.11474G>T (p.Arg3825Ile) c.9473G>T (p.Arg3158Ile) c.8702G>T (p.Arg2901Ile) c.6074G>T (p.Arg2025Ile) c.5123G>T (p.Arg1708Ile) | |
| 15 | g.28141490C>G | CA391381143 | HERC2 | c.11957G>C (p.Arg3986Thr) c.3668G>C (p.Arg1223Thr) c.11843G>C (p.Arg3948Thr) c.11942G>C (p.Arg3981Thr) c.11699G>C (p.Arg3900Thr) c.11474G>C (p.Arg3825Thr) c.9473G>C (p.Arg3158Thr) c.8702G>C (p.Arg2901Thr) c.6074G>C (p.Arg2025Thr) c.5123G>C (p.Arg1708Thr) | |
| 15 | g.28141490C>T | CA391381145 | HERC2 | c.11957G>A (p.Arg3986Lys) c.3668G>A (p.Arg1223Lys) c.11843G>A (p.Arg3948Lys) c.11942G>A (p.Arg3981Lys) c.11699G>A (p.Arg3900Lys) c.11474G>A (p.Arg3825Lys) c.9473G>A (p.Arg3158Lys) c.8702G>A (p.Arg2901Lys) c.6074G>A (p.Arg2025Lys) c.5123G>A (p.Arg1708Lys) | |
| 15 | g.28141491T>A | CA391381148 | HERC2 | c.11956A>T (p.Arg3986Ter) c.3667A>T (p.Arg1223Ter) c.11842A>T (p.Arg3948Ter) c.11941A>T (p.Arg3981Ter) c.11698A>T (p.Arg3900Ter) c.11473A>T (p.Arg3825Ter) c.9472A>T (p.Arg3158Ter) c.8701A>T (p.Arg2901Ter) c.6073A>T (p.Arg2025Ter) c.5122A>T (p.Arg1708Ter) | |
| 15 | g.28141491T>C | CA391381150 | HERC2 | c.11956A>G (p.Arg3986Gly) c.3667A>G (p.Arg1223Gly) c.11842A>G (p.Arg3948Gly) c.11941A>G (p.Arg3981Gly) c.11698A>G (p.Arg3900Gly) c.11473A>G (p.Arg3825Gly) c.9472A>G (p.Arg3158Gly) c.8701A>G (p.Arg2901Gly) c.6073A>G (p.Arg2025Gly) c.5122A>G (p.Arg1708Gly) | |
| 15 | g.28141491T>G | CA489234693 | HERC2 | c.11956A>C (p.Arg3986=) c.3667A>C (p.Arg1223=) c.11842A>C (p.Arg3948=) c.11941A>C (p.Arg3981=) c.11698A>C (p.Arg3900=) c.11473A>C (p.Arg3825=) c.9472A>C (p.Arg3158=) c.8701A>C (p.Arg2901=) c.6073A>C (p.Arg2025=) c.5122A>C (p.Arg1708=) | |
| 15 | g.28141492G>A | CA489234694 | HERC2 | c.11955C>T (p.Leu3985=) c.3666C>T (p.Leu1222=) c.11841C>T (p.Leu3947=) c.11940C>T (p.Leu3980=) c.11697C>T (p.Leu3899=) c.11472C>T (p.Leu3824=) c.9471C>T (p.Leu3157=) c.8700C>T (p.Leu2900=) c.6072C>T (p.Leu2024=) c.5121C>T (p.Leu1707=) | |
| 15 | g.28141492G>C | CA267946076 | HERC2 | c.11955C>G (p.Leu3985=) c.3666C>G (p.Leu1222=) c.11841C>G (p.Leu3947=) c.11940C>G (p.Leu3980=) c.11697C>G (p.Leu3899=) c.11472C>G (p.Leu3824=) c.9471C>G (p.Leu3157=) c.8700C>G (p.Leu2900=) c.6072C>G (p.Leu2024=) c.5121C>G (p.Leu1707=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141492G= | CA2166479854 | HERC2 | c.11955C= (p.Leu3985=) c.3666C= (p.Leu1222=) c.11841C= (p.Leu3947=) c.11940C= (p.Leu3980=) c.11697C= (p.Leu3899=) c.11472C= (p.Leu3824=) c.9471C= (p.Leu3157=) c.8700C= (p.Leu2900=) c.6072C= (p.Leu2024=) c.5121C= (p.Leu1707=) | |
| 15 | g.28141492G>T | CA489234697 | HERC2 | c.11955C>A (p.Leu3985=) c.3666C>A (p.Leu1222=) c.11841C>A (p.Leu3947=) c.11940C>A (p.Leu3980=) c.11697C>A (p.Leu3899=) c.11472C>A (p.Leu3824=) c.9471C>A (p.Leu3157=) c.8700C>A (p.Leu2900=) c.6072C>A (p.Leu2024=) c.5121C>A (p.Leu1707=) | |
| 15 | g.28141493A>C | CA391381156 | HERC2 | c.11954T>G (p.Leu3985Arg) c.3665T>G (p.Leu1222Arg) c.11840T>G (p.Leu3947Arg) c.11939T>G (p.Leu3980Arg) c.11696T>G (p.Leu3899Arg) c.11471T>G (p.Leu3824Arg) c.9470T>G (p.Leu3157Arg) c.8699T>G (p.Leu2900Arg) c.6071T>G (p.Leu2024Arg) c.5120T>G (p.Leu1707Arg) | |
| 15 | g.28141493A>G | CA391381158 | HERC2 | c.11954T>C (p.Leu3985Pro) c.3665T>C (p.Leu1222Pro) c.11840T>C (p.Leu3947Pro) c.11939T>C (p.Leu3980Pro) c.11696T>C (p.Leu3899Pro) c.11471T>C (p.Leu3824Pro) c.9470T>C (p.Leu3157Pro) c.8699T>C (p.Leu2900Pro) c.6071T>C (p.Leu2024Pro) c.5120T>C (p.Leu1707Pro) | gnomAD v4 |
| 15 | g.28141493A>T | CA391381159 | HERC2 | c.11954T>A (p.Leu3985His) c.3665T>A (p.Leu1222His) c.11840T>A (p.Leu3947His) c.11939T>A (p.Leu3980His) c.11696T>A (p.Leu3899His) c.11471T>A (p.Leu3824His) c.9470T>A (p.Leu3157His) c.8699T>A (p.Leu2900His) c.6071T>A (p.Leu2024His) c.5120T>A (p.Leu1707His) | |
| 15 | g.28141494G>A | CA391381161 | HERC2 | c.11953C>T (p.Leu3985Phe) c.3664C>T (p.Leu1222Phe) c.11839C>T (p.Leu3947Phe) c.11938C>T (p.Leu3980Phe) c.11695C>T (p.Leu3899Phe) c.11470C>T (p.Leu3824Phe) c.9469C>T (p.Leu3157Phe) c.8698C>T (p.Leu2900Phe) c.6070C>T (p.Leu2024Phe) c.5119C>T (p.Leu1707Phe) | gnomAD v4 |
| 15 | g.28141494G>C | CA391381164 | HERC2 | c.11953C>G (p.Leu3985Val) c.3664C>G (p.Leu1222Val) c.11839C>G (p.Leu3947Val) c.11938C>G (p.Leu3980Val) c.11695C>G (p.Leu3899Val) c.11470C>G (p.Leu3824Val) c.9469C>G (p.Leu3157Val) c.8698C>G (p.Leu2900Val) c.6070C>G (p.Leu2024Val) c.5119C>G (p.Leu1707Val) | dbSNP gnomAD v4 |
| 15 | g.28141494G= | CA2166479857 | HERC2 | c.11953C= (p.Leu3985=) c.3664C= (p.Leu1222=) c.11839C= (p.Leu3947=) c.11938C= (p.Leu3980=) c.11695C= (p.Leu3899=) c.11470C= (p.Leu3824=) c.9469C= (p.Leu3157=) c.8698C= (p.Leu2900=) c.6070C= (p.Leu2024=) c.5119C= (p.Leu1707=) | |
| 15 | g.28141494G>T | CA391381167 | HERC2 | c.11953C>A (p.Leu3985Ile) c.3664C>A (p.Leu1222Ile) c.11839C>A (p.Leu3947Ile) c.11938C>A (p.Leu3980Ile) c.11695C>A (p.Leu3899Ile) c.11470C>A (p.Leu3824Ile) c.9469C>A (p.Leu3157Ile) c.8698C>A (p.Leu2900Ile) c.6070C>A (p.Leu2024Ile) c.5119C>A (p.Leu1707Ile) | |
| 15 | g.28141495A>C | CA489234698 | HERC2 | c.11952T>G (p.Thr3984=) c.3663T>G (p.Thr1221=) c.11838T>G (p.Thr3946=) c.11937T>G (p.Thr3979=) c.11694T>G (p.Thr3898=) c.11469T>G (p.Thr3823=) c.9468T>G (p.Thr3156=) c.8697T>G (p.Thr2899=) c.6069T>G (p.Thr2023=) c.5118T>G (p.Thr1706=) | |
| 15 | g.28141495A>G | CA489234700 | HERC2 | c.11952T>C (p.Thr3984=) c.3663T>C (p.Thr1221=) c.11838T>C (p.Thr3946=) c.11937T>C (p.Thr3979=) c.11694T>C (p.Thr3898=) c.11469T>C (p.Thr3823=) c.9468T>C (p.Thr3156=) c.8697T>C (p.Thr2899=) c.6069T>C (p.Thr2023=) c.5118T>C (p.Thr1706=) | |
| 15 | g.28141495A>T | CA489234703 | HERC2 | c.11952T>A (p.Thr3984=) c.3663T>A (p.Thr1221=) c.11838T>A (p.Thr3946=) c.11937T>A (p.Thr3979=) c.11694T>A (p.Thr3898=) c.11469T>A (p.Thr3823=) c.9468T>A (p.Thr3156=) c.8697T>A (p.Thr2899=) c.6069T>A (p.Thr2023=) c.5118T>A (p.Thr1706=) | |
| 15 | g.28141496G>A | CA391381172 | HERC2 | c.11951C>T (p.Thr3984Ile) c.3662C>T (p.Thr1221Ile) c.11837C>T (p.Thr3946Ile) c.11936C>T (p.Thr3979Ile) c.11693C>T (p.Thr3898Ile) c.11468C>T (p.Thr3823Ile) c.9467C>T (p.Thr3156Ile) c.8696C>T (p.Thr2899Ile) c.6068C>T (p.Thr2023Ile) c.5117C>T (p.Thr1706Ile) | |
| 15 | g.28141496G>C | CA391381174 | HERC2 | c.11951C>G (p.Thr3984Ser) c.3662C>G (p.Thr1221Ser) c.11837C>G (p.Thr3946Ser) c.11936C>G (p.Thr3979Ser) c.11693C>G (p.Thr3898Ser) c.11468C>G (p.Thr3823Ser) c.9467C>G (p.Thr3156Ser) c.8696C>G (p.Thr2899Ser) c.6068C>G (p.Thr2023Ser) c.5117C>G (p.Thr1706Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141496G= | CA2166479859 | HERC2 | c.11951C= (p.Thr3984=) c.3662C= (p.Thr1221=) c.11837C= (p.Thr3946=) c.11936C= (p.Thr3979=) c.11693C= (p.Thr3898=) c.11468C= (p.Thr3823=) c.9467C= (p.Thr3156=) c.8696C= (p.Thr2899=) c.6068C= (p.Thr2023=) c.5117C= (p.Thr1706=) | |
| 15 | g.28141496G>T | CA391381170 | HERC2 | c.11951C>A (p.Thr3984Asn) c.3662C>A (p.Thr1221Asn) c.11837C>A (p.Thr3946Asn) c.11936C>A (p.Thr3979Asn) c.11693C>A (p.Thr3898Asn) c.11468C>A (p.Thr3823Asn) c.9467C>A (p.Thr3156Asn) c.8696C>A (p.Thr2899Asn) c.6068C>A (p.Thr2023Asn) c.5117C>A (p.Thr1706Asn) | |
| 15 | g.28141497T>A | CA391381177 | HERC2 | c.11950A>T (p.Thr3984Ser) c.3661A>T (p.Thr1221Ser) c.11836A>T (p.Thr3946Ser) c.11935A>T (p.Thr3979Ser) c.11692A>T (p.Thr3898Ser) c.11467A>T (p.Thr3823Ser) c.9466A>T (p.Thr3156Ser) c.8695A>T (p.Thr2899Ser) c.6067A>T (p.Thr2023Ser) c.5116A>T (p.Thr1706Ser) | dbSNP |
| 15 | g.28141497T>C | CA7440428 | HERC2 | c.11950A>G (p.Thr3984Ala) c.3661A>G (p.Thr1221Ala) c.11836A>G (p.Thr3946Ala) c.11935A>G (p.Thr3979Ala) c.11692A>G (p.Thr3898Ala) c.11467A>G (p.Thr3823Ala) c.9466A>G (p.Thr3156Ala) c.8695A>G (p.Thr2899Ala) c.6067A>G (p.Thr2023Ala) c.5116A>G (p.Thr1706Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141497T>G | CA391381180 | HERC2 | c.11950A>C (p.Thr3984Pro) c.3661A>C (p.Thr1221Pro) c.11836A>C (p.Thr3946Pro) c.11935A>C (p.Thr3979Pro) c.11692A>C (p.Thr3898Pro) c.11467A>C (p.Thr3823Pro) c.9466A>C (p.Thr3156Pro) c.8695A>C (p.Thr2899Pro) c.6067A>C (p.Thr2023Pro) c.5116A>C (p.Thr1706Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141497T= | CA2166479861 | HERC2 | c.11950A= (p.Thr3984=) c.3661A= (p.Thr1221=) c.11836A= (p.Thr3946=) c.11935A= (p.Thr3979=) c.11692A= (p.Thr3898=) c.11467A= (p.Thr3823=) c.9466A= (p.Thr3156=) c.8695A= (p.Thr2899=) c.6067A= (p.Thr2023=) c.5116A= (p.Thr1706=) | |
| 15 | g.28141498T>A | CA489234704 | HERC2 | c.11949A>T (p.Ala3983=) c.3660A>T (p.Ala1220=) c.11835A>T (p.Ala3945=) c.11934A>T (p.Ala3978=) c.11691A>T (p.Ala3897=) c.11466A>T (p.Ala3822=) c.9465A>T (p.Ala3155=) c.8694A>T (p.Ala2898=) c.6066A>T (p.Ala2022=) c.5115A>T (p.Ala1705=) | |
| 15 | g.28141498T>C | CA489234705 | HERC2 | c.11949A>G (p.Ala3983=) c.3660A>G (p.Ala1220=) c.11835A>G (p.Ala3945=) c.11934A>G (p.Ala3978=) c.11691A>G (p.Ala3897=) c.11466A>G (p.Ala3822=) c.9465A>G (p.Ala3155=) c.8694A>G (p.Ala2898=) c.6066A>G (p.Ala2022=) c.5115A>G (p.Ala1705=) | |
| 15 | g.28141498T>G | CA489234706 | HERC2 | c.11949A>C (p.Ala3983=) c.3660A>C (p.Ala1220=) c.11835A>C (p.Ala3945=) c.11934A>C (p.Ala3978=) c.11691A>C (p.Ala3897=) c.11466A>C (p.Ala3822=) c.9465A>C (p.Ala3155=) c.8694A>C (p.Ala2898=) c.6066A>C (p.Ala2022=) c.5115A>C (p.Ala1705=) | dbSNP gnomAD v4 |
| 15 | g.28141498T= | CA2166479863 | HERC2 | c.11949A= (p.Ala3983=) c.3660A= (p.Ala1220=) c.11835A= (p.Ala3945=) c.11934A= (p.Ala3978=) c.11691A= (p.Ala3897=) c.11466A= (p.Ala3822=) c.9465A= (p.Ala3155=) c.8694A= (p.Ala2898=) c.6066A= (p.Ala2022=) c.5115A= (p.Ala1705=) | |
| 15 | g.28141499G>A | CA391381183 | HERC2 | c.11948C>T (p.Ala3983Val) c.3659C>T (p.Ala1220Val) c.11834C>T (p.Ala3945Val) c.11933C>T (p.Ala3978Val) c.11690C>T (p.Ala3897Val) c.11465C>T (p.Ala3822Val) c.9464C>T (p.Ala3155Val) c.8693C>T (p.Ala2898Val) c.6065C>T (p.Ala2022Val) c.5114C>T (p.Ala1705Val) | |
| 15 | g.28141499G>C | CA391381186 | HERC2 | c.11948C>G (p.Ala3983Gly) c.3659C>G (p.Ala1220Gly) c.11834C>G (p.Ala3945Gly) c.11933C>G (p.Ala3978Gly) c.11690C>G (p.Ala3897Gly) c.11465C>G (p.Ala3822Gly) c.9464C>G (p.Ala3155Gly) c.8693C>G (p.Ala2898Gly) c.6065C>G (p.Ala2022Gly) c.5114C>G (p.Ala1705Gly) | |
| 15 | g.28141499G>T | CA391381188 | HERC2 | c.11948C>A (p.Ala3983Glu) c.3659C>A (p.Ala1220Glu) c.11834C>A (p.Ala3945Glu) c.11933C>A (p.Ala3978Glu) c.11690C>A (p.Ala3897Glu) c.11465C>A (p.Ala3822Glu) c.9464C>A (p.Ala3155Glu) c.8693C>A (p.Ala2898Glu) c.6065C>A (p.Ala2022Glu) c.5114C>A (p.Ala1705Glu) | |
| 15 | g.28141500C>A | CA391381190 | HERC2 | c.11947G>T (p.Ala3983Ser) c.3658G>T (p.Ala1220Ser) c.11833G>T (p.Ala3945Ser) c.11932G>T (p.Ala3978Ser) c.11689G>T (p.Ala3897Ser) c.11464G>T (p.Ala3822Ser) c.9463G>T (p.Ala3155Ser) c.8692G>T (p.Ala2898Ser) c.6064G>T (p.Ala2022Ser) c.5113G>T (p.Ala1705Ser) |