| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28141480C>A | CA391381079 | HERC2 | c.11967G>T (p.Gln3989His) c.3678G>T (p.Gln1226His) c.11853G>T (p.Gln3951His) c.11952G>T (p.Gln3984His) c.11709G>T (p.Gln3903His) c.11484G>T (p.Gln3828His) c.9483G>T (p.Gln3161His) c.8712G>T (p.Gln2904His) c.6084G>T (p.Gln2028His) c.5133G>T (p.Gln1711His) | |
| 15 | g.28141480C= | CA2166479845 | HERC2 | c.11967G= (p.Gln3989=) c.3678G= (p.Gln1226=) c.11853G= (p.Gln3951=) c.11952G= (p.Gln3984=) c.11709G= (p.Gln3903=) c.11484G= (p.Gln3828=) c.9483G= (p.Gln3161=) c.8712G= (p.Gln2904=) c.6084G= (p.Gln2028=) c.5133G= (p.Gln1711=) | |
| 15 | g.28141480C>G | CA391381081 | HERC2 | c.11967G>C (p.Gln3989His) c.3678G>C (p.Gln1226His) c.11853G>C (p.Gln3951His) c.11952G>C (p.Gln3984His) c.11709G>C (p.Gln3903His) c.11484G>C (p.Gln3828His) c.9483G>C (p.Gln3161His) c.8712G>C (p.Gln2904His) c.6084G>C (p.Gln2028His) c.5133G>C (p.Gln1711His) | |
| 15 | g.28141480C>T | CA7440424 | HERC2 | c.11967G>A (p.Gln3989=) c.3678G>A (p.Gln1226=) c.11853G>A (p.Gln3951=) c.11952G>A (p.Gln3984=) c.11709G>A (p.Gln3903=) c.11484G>A (p.Gln3828=) c.9483G>A (p.Gln3161=) c.8712G>A (p.Gln2904=) c.6084G>A (p.Gln2028=) c.5133G>A (p.Gln1711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141481T>A | CA391381087 | HERC2 | c.11966A>T (p.Gln3989Leu) c.3677A>T (p.Gln1226Leu) c.11852A>T (p.Gln3951Leu) c.11951A>T (p.Gln3984Leu) c.11708A>T (p.Gln3903Leu) c.11483A>T (p.Gln3828Leu) c.9482A>T (p.Gln3161Leu) c.8711A>T (p.Gln2904Leu) c.6083A>T (p.Gln2028Leu) c.5132A>T (p.Gln1711Leu) | |
| 15 | g.28141481T>C | CA391381089 | HERC2 | c.11966A>G (p.Gln3989Arg) c.3677A>G (p.Gln1226Arg) c.11852A>G (p.Gln3951Arg) c.11951A>G (p.Gln3984Arg) c.11708A>G (p.Gln3903Arg) c.11483A>G (p.Gln3828Arg) c.9482A>G (p.Gln3161Arg) c.8711A>G (p.Gln2904Arg) c.6083A>G (p.Gln2028Arg) c.5132A>G (p.Gln1711Arg) | gnomAD v4 |
| 15 | g.28141481T>G | CA391381090 | HERC2 | c.11966A>C (p.Gln3989Pro) c.3677A>C (p.Gln1226Pro) c.11852A>C (p.Gln3951Pro) c.11951A>C (p.Gln3984Pro) c.11708A>C (p.Gln3903Pro) c.11483A>C (p.Gln3828Pro) c.9482A>C (p.Gln3161Pro) c.8711A>C (p.Gln2904Pro) c.6083A>C (p.Gln2028Pro) c.5132A>C (p.Gln1711Pro) | |
| 15 | g.28141482G>A | CA391381094 | HERC2 | c.11965C>T (p.Gln3989Ter) c.3676C>T (p.Gln1226Ter) c.11851C>T (p.Gln3951Ter) c.11950C>T (p.Gln3984Ter) c.11707C>T (p.Gln3903Ter) c.11482C>T (p.Gln3828Ter) c.9481C>T (p.Gln3161Ter) c.8710C>T (p.Gln2904Ter) c.6082C>T (p.Gln2028Ter) c.5131C>T (p.Gln1711Ter) | |
| 15 | g.28141482G>C | CA391381100 | HERC2 | c.11965C>G (p.Gln3989Glu) c.3676C>G (p.Gln1226Glu) c.11851C>G (p.Gln3951Glu) c.11950C>G (p.Gln3984Glu) c.11707C>G (p.Gln3903Glu) c.11482C>G (p.Gln3828Glu) c.9481C>G (p.Gln3161Glu) c.8710C>G (p.Gln2904Glu) c.6082C>G (p.Gln2028Glu) c.5131C>G (p.Gln1711Glu) | |
| 15 | g.28141482G>T | CA391381093 | HERC2 | c.11965C>A (p.Gln3989Lys) c.3676C>A (p.Gln1226Lys) c.11851C>A (p.Gln3951Lys) c.11950C>A (p.Gln3984Lys) c.11707C>A (p.Gln3903Lys) c.11482C>A (p.Gln3828Lys) c.9481C>A (p.Gln3161Lys) c.8710C>A (p.Gln2904Lys) c.6082C>A (p.Gln2028Lys) c.5131C>A (p.Gln1711Lys) | |
| 15 | g.28141483C>A | CA489234684 | HERC2 | c.11964G>T (p.Val3988=) c.3675G>T (p.Val1225=) c.11850G>T (p.Val3950=) c.11949G>T (p.Val3983=) c.11706G>T (p.Val3902=) c.11481G>T (p.Val3827=) c.9480G>T (p.Val3160=) c.8709G>T (p.Val2903=) c.6081G>T (p.Val2027=) c.5130G>T (p.Val1710=) | |
| 15 | g.28141483C>G | CA489234685 | HERC2 | c.11964G>C (p.Val3988=) c.3675G>C (p.Val1225=) c.11850G>C (p.Val3950=) c.11949G>C (p.Val3983=) c.11706G>C (p.Val3902=) c.11481G>C (p.Val3827=) c.9480G>C (p.Val3160=) c.8709G>C (p.Val2903=) c.6081G>C (p.Val2027=) c.5130G>C (p.Val1710=) | |
| 15 | g.28141483C>T | CA489234683 | HERC2 | c.11964G>A (p.Val3988=) c.3675G>A (p.Val1225=) c.11850G>A (p.Val3950=) c.11949G>A (p.Val3983=) c.11706G>A (p.Val3902=) c.11481G>A (p.Val3827=) c.9480G>A (p.Val3160=) c.8709G>A (p.Val2903=) c.6081G>A (p.Val2027=) c.5130G>A (p.Val1710=) | |
| 15 | g.28141484A= | CA2166479846 | HERC2 | c.11963T= (p.Val3988=) c.3674T= (p.Val1225=) c.11849T= (p.Val3950=) c.11948T= (p.Val3983=) c.11705T= (p.Val3902=) c.11480T= (p.Val3827=) c.9479T= (p.Val3160=) c.8708T= (p.Val2903=) c.6080T= (p.Val2027=) c.5129T= (p.Val1710=) | |
| 15 | g.28141484A>C | CA391381109 | HERC2 | c.11963T>G (p.Val3988Gly) c.3674T>G (p.Val1225Gly) c.11849T>G (p.Val3950Gly) c.11948T>G (p.Val3983Gly) c.11705T>G (p.Val3902Gly) c.11480T>G (p.Val3827Gly) c.9479T>G (p.Val3160Gly) c.8708T>G (p.Val2903Gly) c.6080T>G (p.Val2027Gly) c.5129T>G (p.Val1710Gly) | |
| 15 | g.28141484A>G | CA7440425 | HERC2 | c.11963T>C (p.Val3988Ala) c.3674T>C (p.Val1225Ala) c.11849T>C (p.Val3950Ala) c.11948T>C (p.Val3983Ala) c.11705T>C (p.Val3902Ala) c.11480T>C (p.Val3827Ala) c.9479T>C (p.Val3160Ala) c.8708T>C (p.Val2903Ala) c.6080T>C (p.Val2027Ala) c.5129T>C (p.Val1710Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141484A>T | CA391381106 | HERC2 | c.11963T>A (p.Val3988Glu) c.3674T>A (p.Val1225Glu) c.11849T>A (p.Val3950Glu) c.11948T>A (p.Val3983Glu) c.11705T>A (p.Val3902Glu) c.11480T>A (p.Val3827Glu) c.9479T>A (p.Val3160Glu) c.8708T>A (p.Val2903Glu) c.6080T>A (p.Val2027Glu) c.5129T>A (p.Val1710Glu) | |
| 15 | g.28141485C>A | CA391381112 | HERC2 | c.11962G>T (p.Val3988Leu) c.3673G>T (p.Val1225Leu) c.11848G>T (p.Val3950Leu) c.11947G>T (p.Val3983Leu) c.11704G>T (p.Val3902Leu) c.11479G>T (p.Val3827Leu) c.9478G>T (p.Val3160Leu) c.8707G>T (p.Val2903Leu) c.6079G>T (p.Val2027Leu) c.5128G>T (p.Val1710Leu) | |
| 15 | g.28141485C= | CA2166479849 | HERC2 | c.11962G= (p.Val3988=) c.3673G= (p.Val1225=) c.11848G= (p.Val3950=) c.11947G= (p.Val3983=) c.11704G= (p.Val3902=) c.11479G= (p.Val3827=) c.9478G= (p.Val3160=) c.8707G= (p.Val2903=) c.6079G= (p.Val2027=) c.5128G= (p.Val1710=) | |
| 15 | g.28141485C>G | CA391381114 | HERC2 | c.11962G>C (p.Val3988Leu) c.3673G>C (p.Val1225Leu) c.11848G>C (p.Val3950Leu) c.11947G>C (p.Val3983Leu) c.11704G>C (p.Val3902Leu) c.11479G>C (p.Val3827Leu) c.9478G>C (p.Val3160Leu) c.8707G>C (p.Val2903Leu) c.6079G>C (p.Val2027Leu) c.5128G>C (p.Val1710Leu) | gnomAD v4 |
| 15 | g.28141485C>T | CA7440426 | HERC2 | c.11962G>A (p.Val3988Met) c.3673G>A (p.Val1225Met) c.11848G>A (p.Val3950Met) c.11947G>A (p.Val3983Met) c.11704G>A (p.Val3902Met) c.11479G>A (p.Val3827Met) c.9478G>A (p.Val3160Met) c.8707G>A (p.Val2903Met) c.6079G>A (p.Val2027Met) c.5128G>A (p.Val1710Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |