UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13701289G>A | CA3201351 | DNAH5 | n.819C>T c.13486C>T (p.Arg4496Ter) c.13441C>T (p.Arg4481Ter) c.13594C>T (p.Arg4532Ter) c.13174C>T (p.Arg4392Ter) c.12499C>T (p.Arg4167Ter) c.8683C>T (p.Arg2895Ter) c.8236C>T (p.Arg2746Ter) c.7573C>T (p.Arg2525Ter) c.12088C>T (p.Arg4030Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13701289G>C | CA359192357 | DNAH5 | n.819C>G c.13486C>G (p.Arg4496Gly) c.13441C>G (p.Arg4481Gly) c.13594C>G (p.Arg4532Gly) c.13174C>G (p.Arg4392Gly) c.12499C>G (p.Arg4167Gly) c.8683C>G (p.Arg2895Gly) c.8236C>G (p.Arg2746Gly) c.7573C>G (p.Arg2525Gly) c.12088C>G (p.Arg4030Gly) | |
| 5 | g.13701289G= | CA1528399883 | DNAH5 | n.819C= c.13486C= (p.Arg4496=) c.13441C= (p.Arg4481=) c.13594C= (p.Arg4532=) c.13174C= (p.Arg4392=) c.12499C= (p.Arg4167=) c.8683C= (p.Arg2895=) c.8236C= (p.Arg2746=) c.7573C= (p.Arg2525=) c.12088C= (p.Arg4030=) | |
| 5 | g.13701289G>T | CA443250516 | DNAH5 | n.819C>A c.13486C>A (p.Arg4496=) c.13441C>A (p.Arg4481=) c.13594C>A (p.Arg4532=) c.13174C>A (p.Arg4392=) c.12499C>A (p.Arg4167=) c.8683C>A (p.Arg2895=) c.8236C>A (p.Arg2746=) c.7573C>A (p.Arg2525=) c.12088C>A (p.Arg4030=) | ClinVar dbSNP COSMIC |
| 5 | g.13701290C>A | CA359192358 | DNAH5 | n.818G>T c.13485G>T (p.Met4495Ile) c.13440G>T (p.Met4480Ile) c.13593G>T (p.Met4531Ile) c.13173G>T (p.Met4391Ile) c.12498G>T (p.Met4166Ile) c.8682G>T (p.Met2894Ile) c.8235G>T (p.Met2745Ile) c.7572G>T (p.Met2524Ile) c.12087G>T (p.Met4029Ile) | |
| 5 | g.13701290C= | CA1528399884 | DNAH5 | n.818G= c.13485G= (p.Met4495=) c.13440G= (p.Met4480=) c.13593G= (p.Met4531=) c.13173G= (p.Met4391=) c.12498G= (p.Met4166=) c.8682G= (p.Met2894=) c.8235G= (p.Met2745=) c.7572G= (p.Met2524=) c.12087G= (p.Met4029=) | |
| 5 | g.13701290C>G | CA359192359 | DNAH5 | n.818G>C c.13485G>C (p.Met4495Ile) c.13440G>C (p.Met4480Ile) c.13593G>C (p.Met4531Ile) c.13173G>C (p.Met4391Ile) c.12498G>C (p.Met4166Ile) c.8682G>C (p.Met2894Ile) c.8235G>C (p.Met2745Ile) c.7572G>C (p.Met2524Ile) c.12087G>C (p.Met4029Ile) | |
| 5 | g.13701290C>T | CA359192360 | DNAH5 | n.818G>A c.13485G>A (p.Met4495Ile) c.13440G>A (p.Met4480Ile) c.13593G>A (p.Met4531Ile) c.13173G>A (p.Met4391Ile) c.12498G>A (p.Met4166Ile) c.8682G>A (p.Met2894Ile) c.8235G>A (p.Met2745Ile) c.7572G>A (p.Met2524Ile) c.12087G>A (p.Met4029Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13701291A>C | CA359192363 | DNAH5 | n.817T>G c.13484T>G (p.Met4495Arg) c.13439T>G (p.Met4480Arg) c.13592T>G (p.Met4531Arg) c.13172T>G (p.Met4391Arg) c.12497T>G (p.Met4166Arg) c.8681T>G (p.Met2894Arg) c.8234T>G (p.Met2745Arg) c.7571T>G (p.Met2524Arg) c.12086T>G (p.Met4029Arg) | |
| 5 | g.13701291A>G | CA359192362 | DNAH5 | n.817T>C c.13484T>C (p.Met4495Thr) c.13439T>C (p.Met4480Thr) c.13592T>C (p.Met4531Thr) c.13172T>C (p.Met4391Thr) c.12497T>C (p.Met4166Thr) c.8681T>C (p.Met2894Thr) c.8234T>C (p.Met2745Thr) c.7571T>C (p.Met2524Thr) c.12086T>C (p.Met4029Thr) | COSMIC |
| 5 | g.13701291A>T | CA359192361 | DNAH5 | n.817T>A c.13484T>A (p.Met4495Lys) c.13439T>A (p.Met4480Lys) c.13592T>A (p.Met4531Lys) c.13172T>A (p.Met4391Lys) c.12497T>A (p.Met4166Lys) c.8681T>A (p.Met2894Lys) c.8234T>A (p.Met2745Lys) c.7571T>A (p.Met2524Lys) c.12086T>A (p.Met4029Lys) | |
| 5 | g.13701292T>A | CA359192364 | DNAH5 | n.816A>T c.13483A>T (p.Met4495Leu) c.13438A>T (p.Met4480Leu) c.13591A>T (p.Met4531Leu) c.13171A>T (p.Met4391Leu) c.12496A>T (p.Met4166Leu) c.8680A>T (p.Met2894Leu) c.8233A>T (p.Met2745Leu) c.7570A>T (p.Met2524Leu) c.12085A>T (p.Met4029Leu) | gnomAD v4 |
| 5 | g.13701292T>C | CA3201352 | DNAH5 | n.816A>G c.13483A>G (p.Met4495Val) c.13438A>G (p.Met4480Val) c.13591A>G (p.Met4531Val) c.13171A>G (p.Met4391Val) c.12496A>G (p.Met4166Val) c.8680A>G (p.Met2894Val) c.8233A>G (p.Met2745Val) c.7570A>G (p.Met2524Val) c.12085A>G (p.Met4029Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701292T>G | CA359192365 | DNAH5 | n.816A>C c.13483A>C (p.Met4495Leu) c.13438A>C (p.Met4480Leu) c.13591A>C (p.Met4531Leu) c.13171A>C (p.Met4391Leu) c.12496A>C (p.Met4166Leu) c.8680A>C (p.Met2894Leu) c.8233A>C (p.Met2745Leu) c.7570A>C (p.Met2524Leu) c.12085A>C (p.Met4029Leu) | |
| 5 | g.13701292T= | CA1528399885 | DNAH5 | n.816A= c.13483A= (p.Met4495=) c.13438A= (p.Met4480=) c.13591A= (p.Met4531=) c.13171A= (p.Met4391=) c.12496A= (p.Met4166=) c.8680A= (p.Met2894=) c.8233A= (p.Met2745=) c.7570A= (p.Met2524=) c.12085A= (p.Met4029=) | |
| 5 | g.13701293T>A | CA443250517 | DNAH5 | n.815A>T c.13482A>T (p.Ala4494=) c.13437A>T (p.Ala4479=) c.13590A>T (p.Ala4530=) c.13170A>T (p.Ala4390=) c.12495A>T (p.Ala4165=) c.8679A>T (p.Ala2893=) c.8232A>T (p.Ala2744=) c.7569A>T (p.Ala2523=) c.12084A>T (p.Ala4028=) | |
| 5 | g.13701293T>C | CA443250518 | DNAH5 | n.815A>G c.13482A>G (p.Ala4494=) c.13437A>G (p.Ala4479=) c.13590A>G (p.Ala4530=) c.13170A>G (p.Ala4390=) c.12495A>G (p.Ala4165=) c.8679A>G (p.Ala2893=) c.8232A>G (p.Ala2744=) c.7569A>G (p.Ala2523=) c.12084A>G (p.Ala4028=) | |
| 5 | g.13701293T>G | CA443250519 | DNAH5 | n.815A>C c.13482A>C (p.Ala4494=) c.13437A>C (p.Ala4479=) c.13590A>C (p.Ala4530=) c.13170A>C (p.Ala4390=) c.12495A>C (p.Ala4165=) c.8679A>C (p.Ala2893=) c.8232A>C (p.Ala2744=) c.7569A>C (p.Ala2523=) c.12084A>C (p.Ala4028=) | ClinVar |
| 5 | g.13701294G>A | CA3201353 | DNAH5 | n.814C>T c.13481C>T (p.Ala4494Val) c.13436C>T (p.Ala4479Val) c.13589C>T (p.Ala4530Val) c.13169C>T (p.Ala4390Val) c.12494C>T (p.Ala4165Val) c.8678C>T (p.Ala2893Val) c.8231C>T (p.Ala2744Val) c.7568C>T (p.Ala2523Val) c.12083C>T (p.Ala4028Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701294G>C | CA359192366 | DNAH5 | n.814C>G c.13481C>G (p.Ala4494Gly) c.13436C>G (p.Ala4479Gly) c.13589C>G (p.Ala4530Gly) c.13169C>G (p.Ala4390Gly) c.12494C>G (p.Ala4165Gly) c.8678C>G (p.Ala2893Gly) c.8231C>G (p.Ala2744Gly) c.7568C>G (p.Ala2523Gly) c.12083C>G (p.Ala4028Gly) | |
| 5 | g.13701294G= | CA1528399886 | DNAH5 | n.814C= c.13481C= (p.Ala4494=) c.13436C= (p.Ala4479=) c.13589C= (p.Ala4530=) c.13169C= (p.Ala4390=) c.12494C= (p.Ala4165=) c.8678C= (p.Ala2893=) c.8231C= (p.Ala2744=) c.7568C= (p.Ala2523=) c.12083C= (p.Ala4028=) | |
| 5 | g.13701294G>T | CA359192367 | DNAH5 | n.814C>A c.13481C>A (p.Ala4494Glu) c.13436C>A (p.Ala4479Glu) c.13589C>A (p.Ala4530Glu) c.13169C>A (p.Ala4390Glu) c.12494C>A (p.Ala4165Glu) c.8678C>A (p.Ala2893Glu) c.8231C>A (p.Ala2744Glu) c.7568C>A (p.Ala2523Glu) c.12083C>A (p.Ala4028Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13701295C>A | CA359192368 | DNAH5 | n.813G>T c.13480G>T (p.Ala4494Ser) c.13435G>T (p.Ala4479Ser) c.13588G>T (p.Ala4530Ser) c.13168G>T (p.Ala4390Ser) c.12493G>T (p.Ala4165Ser) c.8677G>T (p.Ala2893Ser) c.8230G>T (p.Ala2744Ser) c.7567G>T (p.Ala2523Ser) c.12082G>T (p.Ala4028Ser) | |
| 5 | g.13701295C= | CA1528399887 | DNAH5 | n.813G= c.13480G= (p.Ala4494=) c.13435G= (p.Ala4479=) c.13588G= (p.Ala4530=) c.13168G= (p.Ala4390=) c.12493G= (p.Ala4165=) c.8677G= (p.Ala2893=) c.8230G= (p.Ala2744=) c.7567G= (p.Ala2523=) c.12082G= (p.Ala4028=) | |
| 5 | g.13701295C>G | CA359192370 | DNAH5 | n.813G>C c.13480G>C (p.Ala4494Pro) c.13435G>C (p.Ala4479Pro) c.13588G>C (p.Ala4530Pro) c.13168G>C (p.Ala4390Pro) c.12493G>C (p.Ala4165Pro) c.8677G>C (p.Ala2893Pro) c.8230G>C (p.Ala2744Pro) c.7567G>C (p.Ala2523Pro) c.12082G>C (p.Ala4028Pro) | dbSNP |
| 5 | g.13701295C>T | CA359192369 | DNAH5 | n.813G>A c.13480G>A (p.Ala4494Thr) c.13435G>A (p.Ala4479Thr) c.13588G>A (p.Ala4530Thr) c.13168G>A (p.Ala4390Thr) c.12493G>A (p.Ala4165Thr) c.8677G>A (p.Ala2893Thr) c.8230G>A (p.Ala2744Thr) c.7567G>A (p.Ala2523Thr) c.12082G>A (p.Ala4028Thr) | |
| 5 | g.13701296A>C | CA443250520 | DNAH5 | n.812T>G c.13479T>G (p.Thr4493=) c.13434T>G (p.Thr4478=) c.13587T>G (p.Thr4529=) c.13167T>G (p.Thr4389=) c.12492T>G (p.Thr4164=) c.8676T>G (p.Thr2892=) c.8229T>G (p.Thr2743=) c.7566T>G (p.Thr2522=) c.12081T>G (p.Thr4027=) | |
| 5 | g.13701296A>G | CA443250521 | DNAH5 | n.812T>C c.13479T>C (p.Thr4493=) c.13434T>C (p.Thr4478=) c.13587T>C (p.Thr4529=) c.13167T>C (p.Thr4389=) c.12492T>C (p.Thr4164=) c.8676T>C (p.Thr2892=) c.8229T>C (p.Thr2743=) c.7566T>C (p.Thr2522=) c.12081T>C (p.Thr4027=) | |
| 5 | g.13701296A>T | CA443250522 | DNAH5 | n.812T>A c.13479T>A (p.Thr4493=) c.13434T>A (p.Thr4478=) c.13587T>A (p.Thr4529=) c.13167T>A (p.Thr4389=) c.12492T>A (p.Thr4164=) c.8676T>A (p.Thr2892=) c.8229T>A (p.Thr2743=) c.7566T>A (p.Thr2522=) c.12081T>A (p.Thr4027=) | |
| 5 | g.13701297G>A | CA359192371 | DNAH5 | n.811C>T c.13478C>T (p.Thr4493Ile) c.13433C>T (p.Thr4478Ile) c.13586C>T (p.Thr4529Ile) c.13166C>T (p.Thr4389Ile) c.12491C>T (p.Thr4164Ile) c.8675C>T (p.Thr2892Ile) c.8228C>T (p.Thr2743Ile) c.7565C>T (p.Thr2522Ile) c.12080C>T (p.Thr4027Ile) | |
| 5 | g.13701297G>C | CA359192372 | DNAH5 | n.811C>G c.13478C>G (p.Thr4493Ser) c.13433C>G (p.Thr4478Ser) c.13586C>G (p.Thr4529Ser) c.13166C>G (p.Thr4389Ser) c.12491C>G (p.Thr4164Ser) c.8675C>G (p.Thr2892Ser) c.8228C>G (p.Thr2743Ser) c.7565C>G (p.Thr2522Ser) c.12080C>G (p.Thr4027Ser) | |
| 5 | g.13701297G>T | CA359192373 | DNAH5 | n.811C>A c.13478C>A (p.Thr4493Asn) c.13433C>A (p.Thr4478Asn) c.13586C>A (p.Thr4529Asn) c.13166C>A (p.Thr4389Asn) c.12491C>A (p.Thr4164Asn) c.8675C>A (p.Thr2892Asn) c.8228C>A (p.Thr2743Asn) c.7565C>A (p.Thr2522Asn) c.12080C>A (p.Thr4027Asn) | |
| 5 | g.13701298T>A | CA359192374 | DNAH5 | n.810A>T c.13477A>T (p.Thr4493Ser) c.13432A>T (p.Thr4478Ser) c.13585A>T (p.Thr4529Ser) c.13165A>T (p.Thr4389Ser) c.12490A>T (p.Thr4164Ser) c.8674A>T (p.Thr2892Ser) c.8227A>T (p.Thr2743Ser) c.7564A>T (p.Thr2522Ser) c.12079A>T (p.Thr4027Ser) | |
| 5 | g.13701298T>C | CA359192375 | DNAH5 | n.810A>G c.13477A>G (p.Thr4493Ala) c.13432A>G (p.Thr4478Ala) c.13585A>G (p.Thr4529Ala) c.13165A>G (p.Thr4389Ala) c.12490A>G (p.Thr4164Ala) c.8674A>G (p.Thr2892Ala) c.8227A>G (p.Thr2743Ala) c.7564A>G (p.Thr2522Ala) c.12079A>G (p.Thr4027Ala) | |
| 5 | g.13701298T>G | CA359192376 | DNAH5 | n.810A>C c.13477A>C (p.Thr4493Pro) c.13432A>C (p.Thr4478Pro) c.13585A>C (p.Thr4529Pro) c.13165A>C (p.Thr4389Pro) c.12490A>C (p.Thr4164Pro) c.8674A>C (p.Thr2892Pro) c.8227A>C (p.Thr2743Pro) c.7564A>C (p.Thr2522Pro) c.12079A>C (p.Thr4027Pro) | |
| 5 | g.13701299T>A | CA359192377 | DNAH5 | n.809A>T c.13476A>T (p.Leu4492Phe) c.13431A>T (p.Leu4477Phe) c.13584A>T (p.Leu4528Phe) c.13164A>T (p.Leu4388Phe) c.12489A>T (p.Leu4163Phe) c.8673A>T (p.Leu2891Phe) c.8226A>T (p.Leu2742Phe) c.7563A>T (p.Leu2521Phe) c.12078A>T (p.Leu4026Phe) | |
| 5 | g.13701299T>C | CA443250523 | DNAH5 | n.809A>G c.13476A>G (p.Leu4492=) c.13431A>G (p.Leu4477=) c.13584A>G (p.Leu4528=) c.13164A>G (p.Leu4388=) c.12489A>G (p.Leu4163=) c.8673A>G (p.Leu2891=) c.8226A>G (p.Leu2742=) c.7563A>G (p.Leu2521=) c.12078A>G (p.Leu4026=) | |
| 5 | g.13701299T>G | CA359192378 | DNAH5 | n.809A>C c.13476A>C (p.Leu4492Phe) c.13431A>C (p.Leu4477Phe) c.13584A>C (p.Leu4528Phe) c.13164A>C (p.Leu4388Phe) c.12489A>C (p.Leu4163Phe) c.8673A>C (p.Leu2891Phe) c.8226A>C (p.Leu2742Phe) c.7563A>C (p.Leu2521Phe) c.12078A>C (p.Leu4026Phe) | |
| 5 | g.13701300A>C | CA359192379 | DNAH5 | n.808T>G c.13475T>G (p.Leu4492Ter) c.13430T>G (p.Leu4477Ter) c.13583T>G (p.Leu4528Ter) c.13163T>G (p.Leu4388Ter) c.12488T>G (p.Leu4163Ter) c.8672T>G (p.Leu2891Ter) c.8225T>G (p.Leu2742Ter) c.7562T>G (p.Leu2521Ter) c.12077T>G (p.Leu4026Ter) | |
| 5 | g.13701300A>G | CA359192380 | DNAH5 | n.808T>C c.13475T>C (p.Leu4492Ser) c.13430T>C (p.Leu4477Ser) c.13583T>C (p.Leu4528Ser) c.13163T>C (p.Leu4388Ser) c.12488T>C (p.Leu4163Ser) c.8672T>C (p.Leu2891Ser) c.8225T>C (p.Leu2742Ser) c.7562T>C (p.Leu2521Ser) c.12077T>C (p.Leu4026Ser) | |
| 5 | g.13701300A>T | CA359192381 | DNAH5 | n.808T>A c.13475T>A (p.Leu4492Ter) c.13430T>A (p.Leu4477Ter) c.13583T>A (p.Leu4528Ter) c.13163T>A (p.Leu4388Ter) c.12488T>A (p.Leu4163Ter) c.8672T>A (p.Leu2891Ter) c.8225T>A (p.Leu2742Ter) c.7562T>A (p.Leu2521Ter) c.12077T>A (p.Leu4026Ter) | |
| 5 | g.13701305_13701323del | CA2499217594 | DNAH5 | n.790_808del c.13457_13475del (p.Phe4486Ter) c.13412_13430del (p.Phe4471Ter) c.13565_13583del (p.Phe4522Ter) c.13145_13163del (p.Phe4382Ter) c.12470_12488del (p.Phe4157Ter) c.8654_8672del (p.Phe2885Ter) c.8207_8225del (p.Phe2736Ter) c.7544_7562del (p.Phe2515Ter) c.12059_12077del (p.Phe4020Ter) | ClinVar dbSNP |
| 5 | g.13701301A>C | CA359192382 | DNAH5 | n.807T>G c.13474T>G (p.Leu4492Val) c.13429T>G (p.Leu4477Val) c.13582T>G (p.Leu4528Val) c.13162T>G (p.Leu4388Val) c.12487T>G (p.Leu4163Val) c.8671T>G (p.Leu2891Val) c.8224T>G (p.Leu2742Val) c.7561T>G (p.Leu2521Val) c.12076T>G (p.Leu4026Val) | |
| 5 | g.13701301A>G | CA443250524 | DNAH5 | n.807T>C c.13474T>C (p.Leu4492=) c.13429T>C (p.Leu4477=) c.13582T>C (p.Leu4528=) c.13162T>C (p.Leu4388=) c.12487T>C (p.Leu4163=) c.8671T>C (p.Leu2891=) c.8224T>C (p.Leu2742=) c.7561T>C (p.Leu2521=) c.12076T>C (p.Leu4026=) | |
| 5 | g.13701301A>T | CA359192383 | DNAH5 | n.807T>A c.13474T>A (p.Leu4492Ile) c.13429T>A (p.Leu4477Ile) c.13582T>A (p.Leu4528Ile) c.13162T>A (p.Leu4388Ile) c.12487T>A (p.Leu4163Ile) c.8671T>A (p.Leu2891Ile) c.8224T>A (p.Leu2742Ile) c.7561T>A (p.Leu2521Ile) c.12076T>A (p.Leu4026Ile) | |
| 5 | g.13701302A>C | CA359192384 | DNAH5 | n.806T>G c.13473T>G (p.Phe4491Leu) c.13428T>G (p.Phe4476Leu) c.13581T>G (p.Phe4527Leu) c.13161T>G (p.Phe4387Leu) c.12486T>G (p.Phe4162Leu) c.8670T>G (p.Phe2890Leu) c.8223T>G (p.Phe2741Leu) c.7560T>G (p.Phe2520Leu) c.12075T>G (p.Phe4025Leu) | |
| 5 | g.13701302A>G | CA443250525 | DNAH5 | n.806T>C c.13473T>C (p.Phe4491=) c.13428T>C (p.Phe4476=) c.13581T>C (p.Phe4527=) c.13161T>C (p.Phe4387=) c.12486T>C (p.Phe4162=) c.8670T>C (p.Phe2890=) c.8223T>C (p.Phe2741=) c.7560T>C (p.Phe2520=) c.12075T>C (p.Phe4025=) | |
| 5 | g.13701302A>T | CA359192385 | DNAH5 | n.806T>A c.13473T>A (p.Phe4491Leu) c.13428T>A (p.Phe4476Leu) c.13581T>A (p.Phe4527Leu) c.13161T>A (p.Phe4387Leu) c.12486T>A (p.Phe4162Leu) c.8670T>A (p.Phe2890Leu) c.8223T>A (p.Phe2741Leu) c.7560T>A (p.Phe2520Leu) c.12075T>A (p.Phe4025Leu) | |
| 5 | g.13701303A= | CA1528399888 | DNAH5 | n.805T= c.13472T= (p.Phe4491=) c.13427T= (p.Phe4476=) c.13580T= (p.Phe4527=) c.13160T= (p.Phe4387=) c.12485T= (p.Phe4162=) c.8669T= (p.Phe2890=) c.8222T= (p.Phe2741=) c.7559T= (p.Phe2520=) c.12074T= (p.Phe4025=) | |
| 5 | g.13701303A>C | CA359192386 | DNAH5 | n.805T>G c.13472T>G (p.Phe4491Cys) c.13427T>G (p.Phe4476Cys) c.13580T>G (p.Phe4527Cys) c.13160T>G (p.Phe4387Cys) c.12485T>G (p.Phe4162Cys) c.8669T>G (p.Phe2890Cys) c.8222T>G (p.Phe2741Cys) c.7559T>G (p.Phe2520Cys) c.12074T>G (p.Phe4025Cys) | gnomAD v4 |