| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 15 | g.28141500C>G | CA391381193 | HERC2 | c.11947G>C (p.Ala3983Pro) c.3658G>C (p.Ala1220Pro) c.11833G>C (p.Ala3945Pro) c.11932G>C (p.Ala3978Pro) c.11689G>C (p.Ala3897Pro) c.11464G>C (p.Ala3822Pro) c.9463G>C (p.Ala3155Pro) c.8692G>C (p.Ala2898Pro) c.6064G>C (p.Ala2022Pro) c.5113G>C (p.Ala1705Pro) | |
| 15 | g.28141500C>T | CA391381195 | HERC2 | c.11947G>A (p.Ala3983Thr) c.3658G>A (p.Ala1220Thr) c.11833G>A (p.Ala3945Thr) c.11932G>A (p.Ala3978Thr) c.11689G>A (p.Ala3897Thr) c.11464G>A (p.Ala3822Thr) c.9463G>A (p.Ala3155Thr) c.8692G>A (p.Ala2898Thr) c.6064G>A (p.Ala2022Thr) c.5113G>A (p.Ala1705Thr) | |
| 15 | g.28141501A>C | CA489234707 | HERC2 | c.11946T>G (p.Leu3982=) c.3657T>G (p.Leu1219=) c.11832T>G (p.Leu3944=) c.11931T>G (p.Leu3977=) c.11688T>G (p.Leu3896=) c.11463T>G (p.Leu3821=) c.9462T>G (p.Leu3154=) c.8691T>G (p.Leu2897=) c.6063T>G (p.Leu2021=) c.5112T>G (p.Leu1704=) | |
| 15 | g.28141501A>G | CA489234708 | HERC2 | c.11946T>C (p.Leu3982=) c.3657T>C (p.Leu1219=) c.11832T>C (p.Leu3944=) c.11931T>C (p.Leu3977=) c.11688T>C (p.Leu3896=) c.11463T>C (p.Leu3821=) c.9462T>C (p.Leu3154=) c.8691T>C (p.Leu2897=) c.6063T>C (p.Leu2021=) c.5112T>C (p.Leu1704=) | |
| 15 | g.28141501A>T | CA489234710 | HERC2 | c.11946T>A (p.Leu3982=) c.3657T>A (p.Leu1219=) c.11832T>A (p.Leu3944=) c.11931T>A (p.Leu3977=) c.11688T>A (p.Leu3896=) c.11463T>A (p.Leu3821=) c.9462T>A (p.Leu3154=) c.8691T>A (p.Leu2897=) c.6063T>A (p.Leu2021=) c.5112T>A (p.Leu1704=) | |
| 15 | g.28141502A>C | CA391381198 | HERC2 | c.11945T>G (p.Leu3982Arg) c.3656T>G (p.Leu1219Arg) c.11831T>G (p.Leu3944Arg) c.11930T>G (p.Leu3977Arg) c.11687T>G (p.Leu3896Arg) c.11462T>G (p.Leu3821Arg) c.9461T>G (p.Leu3154Arg) c.8690T>G (p.Leu2897Arg) c.6062T>G (p.Leu2021Arg) c.5111T>G (p.Leu1704Arg) | |
| 15 | g.28141502A>G | CA391381200 | HERC2 | c.11945T>C (p.Leu3982Pro) c.3656T>C (p.Leu1219Pro) c.11831T>C (p.Leu3944Pro) c.11930T>C (p.Leu3977Pro) c.11687T>C (p.Leu3896Pro) c.11462T>C (p.Leu3821Pro) c.9461T>C (p.Leu3154Pro) c.8690T>C (p.Leu2897Pro) c.6062T>C (p.Leu2021Pro) c.5111T>C (p.Leu1704Pro) | |
| 15 | g.28141502A>T | CA391381203 | HERC2 | c.11945T>A (p.Leu3982His) c.3656T>A (p.Leu1219His) c.11831T>A (p.Leu3944His) c.11930T>A (p.Leu3977His) c.11687T>A (p.Leu3896His) c.11462T>A (p.Leu3821His) c.9461T>A (p.Leu3154His) c.8690T>A (p.Leu2897His) c.6062T>A (p.Leu2021His) c.5111T>A (p.Leu1704His) | |
| 15 | g.28141503G>A | CA391381209 | HERC2 | c.11944C>T (p.Leu3982Phe) c.3655C>T (p.Leu1219Phe) c.11830C>T (p.Leu3944Phe) c.11929C>T (p.Leu3977Phe) c.11686C>T (p.Leu3896Phe) c.11461C>T (p.Leu3821Phe) c.9460C>T (p.Leu3154Phe) c.8689C>T (p.Leu2897Phe) c.6061C>T (p.Leu2021Phe) c.5110C>T (p.Leu1704Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141503G>C | CA391381211 | HERC2 | c.11944C>G (p.Leu3982Val) c.3655C>G (p.Leu1219Val) c.11830C>G (p.Leu3944Val) c.11929C>G (p.Leu3977Val) c.11686C>G (p.Leu3896Val) c.11461C>G (p.Leu3821Val) c.9460C>G (p.Leu3154Val) c.8689C>G (p.Leu2897Val) c.6061C>G (p.Leu2021Val) c.5110C>G (p.Leu1704Val) | |
| 15 | g.28141503G= | CA2166479865 | HERC2 | c.11944C= (p.Leu3982=) c.3655C= (p.Leu1219=) c.11830C= (p.Leu3944=) c.11929C= (p.Leu3977=) c.11686C= (p.Leu3896=) c.11461C= (p.Leu3821=) c.9460C= (p.Leu3154=) c.8689C= (p.Leu2897=) c.6061C= (p.Leu2021=) c.5110C= (p.Leu1704=) | |
| 15 | g.28141503G>T | CA391381206 | HERC2 | c.11944C>A (p.Leu3982Ile) c.3655C>A (p.Leu1219Ile) c.11830C>A (p.Leu3944Ile) c.11929C>A (p.Leu3977Ile) c.11686C>A (p.Leu3896Ile) c.11461C>A (p.Leu3821Ile) c.9460C>A (p.Leu3154Ile) c.8689C>A (p.Leu2897Ile) c.6061C>A (p.Leu2021Ile) c.5110C>A (p.Leu1704Ile) | |
| 15 | g.28141504G>A | CA267946081 | HERC2 | c.11943C>T (p.Ala3981=) c.3654C>T (p.Ala1218=) c.11829C>T (p.Ala3943=) c.11928C>T (p.Ala3976=) c.11685C>T (p.Ala3895=) c.11460C>T (p.Ala3820=) c.9459C>T (p.Ala3153=) c.8688C>T (p.Ala2896=) c.6060C>T (p.Ala2020=) c.5109C>T (p.Ala1703=) | dbSNP |
| 15 | g.28141504G>C | CA489234715 | HERC2 | c.11943C>G (p.Ala3981=) c.3654C>G (p.Ala1218=) c.11829C>G (p.Ala3943=) c.11928C>G (p.Ala3976=) c.11685C>G (p.Ala3895=) c.11460C>G (p.Ala3820=) c.9459C>G (p.Ala3153=) c.8688C>G (p.Ala2896=) c.6060C>G (p.Ala2020=) c.5109C>G (p.Ala1703=) | |
| 15 | g.28141504G= | CA2166479867 | HERC2 | c.11943C= (p.Ala3981=) c.3654C= (p.Ala1218=) c.11829C= (p.Ala3943=) c.11928C= (p.Ala3976=) c.11685C= (p.Ala3895=) c.11460C= (p.Ala3820=) c.9459C= (p.Ala3153=) c.8688C= (p.Ala2896=) c.6060C= (p.Ala2020=) c.5109C= (p.Ala1703=) | |
| 15 | g.28141504G>T | CA489234713 | HERC2 | c.11943C>A (p.Ala3981=) c.3654C>A (p.Ala1218=) c.11829C>A (p.Ala3943=) c.11928C>A (p.Ala3976=) c.11685C>A (p.Ala3895=) c.11460C>A (p.Ala3820=) c.9459C>A (p.Ala3153=) c.8688C>A (p.Ala2896=) c.6060C>A (p.Ala2020=) c.5109C>A (p.Ala1703=) | |
| 15 | g.28141505G>A | CA391381216 | HERC2 | c.11942C>T (p.Ala3981Val) c.3653C>T (p.Ala1218Val) c.11828C>T (p.Ala3943Val) c.11927C>T (p.Ala3976Val) c.11684C>T (p.Ala3895Val) c.11459C>T (p.Ala3820Val) c.9458C>T (p.Ala3153Val) c.8687C>T (p.Ala2896Val) c.6059C>T (p.Ala2020Val) c.5108C>T (p.Ala1703Val) | gnomAD v4 |