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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 5 | g.13701303A>G | CA3201354 | DNAH5 | n.805T>C c.13472T>C (p.Phe4491Ser) c.13427T>C (p.Phe4476Ser) c.13580T>C (p.Phe4527Ser) c.13160T>C (p.Phe4387Ser) c.12485T>C (p.Phe4162Ser) c.8669T>C (p.Phe2890Ser) c.8222T>C (p.Phe2741Ser) c.7559T>C (p.Phe2520Ser) c.12074T>C (p.Phe4025Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.13701303A>T | CA359192387 | DNAH5 | n.805T>A c.13472T>A (p.Phe4491Tyr) c.13427T>A (p.Phe4476Tyr) c.13580T>A (p.Phe4527Tyr) c.13160T>A (p.Phe4387Tyr) c.12485T>A (p.Phe4162Tyr) c.8669T>A (p.Phe2890Tyr) c.8222T>A (p.Phe2741Tyr) c.7559T>A (p.Phe2520Tyr) c.12074T>A (p.Phe4025Tyr) | |
| 5 | g.13701304A= | CA1528399889 | DNAH5 | n.804T= c.13471T= (p.Phe4491=) c.13426T= (p.Phe4476=) c.13579T= (p.Phe4527=) c.13159T= (p.Phe4387=) c.12484T= (p.Phe4162=) c.8668T= (p.Phe2890=) c.8221T= (p.Phe2741=) c.7558T= (p.Phe2520=) c.12073T= (p.Phe4025=) | |
| 5 | g.13701304A>C | CA359192388 | DNAH5 | n.804T>G c.13471T>G (p.Phe4491Val) c.13426T>G (p.Phe4476Val) c.13579T>G (p.Phe4527Val) c.13159T>G (p.Phe4387Val) c.12484T>G (p.Phe4162Val) c.8668T>G (p.Phe2890Val) c.8221T>G (p.Phe2741Val) c.7558T>G (p.Phe2520Val) c.12073T>G (p.Phe4025Val) | |
| 5 | g.13701304A>G | CA3201355 | DNAH5 | n.804T>C c.13471T>C (p.Phe4491Leu) c.13426T>C (p.Phe4476Leu) c.13579T>C (p.Phe4527Leu) c.13159T>C (p.Phe4387Leu) c.12484T>C (p.Phe4162Leu) c.8668T>C (p.Phe2890Leu) c.8221T>C (p.Phe2741Leu) c.7558T>C (p.Phe2520Leu) c.12073T>C (p.Phe4025Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701304A>T | CA359192389 | DNAH5 | n.804T>A c.13471T>A (p.Phe4491Ile) c.13426T>A (p.Phe4476Ile) c.13579T>A (p.Phe4527Ile) c.13159T>A (p.Phe4387Ile) c.12484T>A (p.Phe4162Ile) c.8668T>A (p.Phe2890Ile) c.8221T>A (p.Phe2741Ile) c.7558T>A (p.Phe2520Ile) c.12073T>A (p.Phe4025Ile) | |
| 5 | g.13701305T>A | CA443250526 | DNAH5 | n.803A>T c.13470A>T (p.Gly4490=) c.13425A>T (p.Gly4475=) c.13578A>T (p.Gly4526=) c.13158A>T (p.Gly4386=) c.12483A>T (p.Gly4161=) c.8667A>T (p.Gly2889=) c.8220A>T (p.Gly2740=) c.7557A>T (p.Gly2519=) c.12072A>T (p.Gly4024=) | ClinVar |
| 5 | g.13701305T>C | CA443250528 | DNAH5 | n.803A>G c.13470A>G (p.Gly4490=) c.13425A>G (p.Gly4475=) c.13578A>G (p.Gly4526=) c.13158A>G (p.Gly4386=) c.12483A>G (p.Gly4161=) c.8667A>G (p.Gly2889=) c.8220A>G (p.Gly2740=) c.7557A>G (p.Gly2519=) c.12072A>G (p.Gly4024=) | |
| 5 | g.13701305T>G | CA443250527 | DNAH5 | n.803A>C c.13470A>C (p.Gly4490=) c.13425A>C (p.Gly4475=) c.13578A>C (p.Gly4526=) c.13158A>C (p.Gly4386=) c.12483A>C (p.Gly4161=) c.8667A>C (p.Gly2889=) c.8220A>C (p.Gly2740=) c.7557A>C (p.Gly2519=) c.12072A>C (p.Gly4024=) | |
| 5 | g.13701306C>A | CA359192393 | DNAH5 | n.802G>T c.13469G>T (p.Gly4490Val) c.13424G>T (p.Gly4475Val) c.13577G>T (p.Gly4526Val) c.13157G>T (p.Gly4386Val) c.12482G>T (p.Gly4161Val) c.8666G>T (p.Gly2889Val) c.8219G>T (p.Gly2740Val) c.7556G>T (p.Gly2519Val) c.12071G>T (p.Gly4024Val) | |
| 5 | g.13701306C>G | CA359192397 | DNAH5 | n.802G>C c.13469G>C (p.Gly4490Ala) c.13424G>C (p.Gly4475Ala) c.13577G>C (p.Gly4526Ala) c.13157G>C (p.Gly4386Ala) c.12482G>C (p.Gly4161Ala) c.8666G>C (p.Gly2889Ala) c.8219G>C (p.Gly2740Ala) c.7556G>C (p.Gly2519Ala) c.12071G>C (p.Gly4024Ala) | |
| 5 | g.13701306C>T | CA359192395 | DNAH5 | n.802G>A c.13469G>A (p.Gly4490Glu) c.13424G>A (p.Gly4475Glu) c.13577G>A (p.Gly4526Glu) c.13157G>A (p.Gly4386Glu) c.12482G>A (p.Gly4161Glu) c.8666G>A (p.Gly2889Glu) c.8219G>A (p.Gly2740Glu) c.7556G>A (p.Gly2519Glu) c.12071G>A (p.Gly4024Glu) | COSMIC |
| 5 | g.13701307C>A | CA359192399 | DNAH5 | n.801G>T c.13468G>T (p.Gly4490Ter) c.13423G>T (p.Gly4475Ter) c.13576G>T (p.Gly4526Ter) c.13156G>T (p.Gly4386Ter) c.12481G>T (p.Gly4161Ter) c.8665G>T (p.Gly2889Ter) c.8218G>T (p.Gly2740Ter) c.7555G>T (p.Gly2519Ter) c.12070G>T (p.Gly4024Ter) | |
| 5 | g.13701307C= | CA1528399890 | DNAH5 | n.801G= c.13468G= (p.Gly4490=) c.13423G= (p.Gly4475=) c.13576G= (p.Gly4526=) c.13156G= (p.Gly4386=) c.12481G= (p.Gly4161=) c.8665G= (p.Gly2889=) c.8218G= (p.Gly2740=) c.7555G= (p.Gly2519=) c.12070G= (p.Gly4024=) | |
| 5 | g.13701307C>G | CA359192402 | DNAH5 | n.801G>C c.13468G>C (p.Gly4490Arg) c.13423G>C (p.Gly4475Arg) c.13576G>C (p.Gly4526Arg) c.13156G>C (p.Gly4386Arg) c.12481G>C (p.Gly4161Arg) c.8665G>C (p.Gly2889Arg) c.8218G>C (p.Gly2740Arg) c.7555G>C (p.Gly2519Arg) c.12070G>C (p.Gly4024Arg) | |
| 5 | g.13701307C>T | CA113908404 | DNAH5 | n.801G>A c.13468G>A (p.Gly4490Arg) c.13423G>A (p.Gly4475Arg) c.13576G>A (p.Gly4526Arg) c.13156G>A (p.Gly4386Arg) c.12481G>A (p.Gly4161Arg) c.8665G>A (p.Gly2889Arg) c.8218G>A (p.Gly2740Arg) c.7555G>A (p.Gly2519Arg) c.12070G>A (p.Gly4024Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13701308C>A | CA359192406 | DNAH5 | n.800G>T c.13467G>T (p.Gln4489His) c.13422G>T (p.Gln4474His) c.13575G>T (p.Gln4525His) c.13155G>T (p.Gln4385His) c.12480G>T (p.Gln4160His) c.8664G>T (p.Gln2888His) c.8217G>T (p.Gln2739His) c.7554G>T (p.Gln2518His) c.12069G>T (p.Gln4023His) | |
| 5 | g.13701308C= | CA1528399891 | DNAH5 | n.800G= c.13467G= (p.Gln4489=) c.13422G= (p.Gln4474=) c.13575G= (p.Gln4525=) c.13155G= (p.Gln4385=) c.12480G= (p.Gln4160=) c.8664G= (p.Gln2888=) c.8217G= (p.Gln2739=) c.7554G= (p.Gln2518=) c.12069G= (p.Gln4023=) | |
| 5 | g.13701308C>G | CA359192409 | DNAH5 | n.800G>C c.13467G>C (p.Gln4489His) c.13422G>C (p.Gln4474His) c.13575G>C (p.Gln4525His) c.13155G>C (p.Gln4385His) c.12480G>C (p.Gln4160His) c.8664G>C (p.Gln2888His) c.8217G>C (p.Gln2739His) c.7554G>C (p.Gln2518His) c.12069G>C (p.Gln4023His) | |
| 5 | g.13701308C>T | CA3201356 | DNAH5 | n.800G>A c.13467G>A (p.Gln4489=) c.13422G>A (p.Gln4474=) c.13575G>A (p.Gln4525=) c.13155G>A (p.Gln4385=) c.12480G>A (p.Gln4160=) c.8664G>A (p.Gln2888=) c.8217G>A (p.Gln2739=) c.7554G>A (p.Gln2518=) c.12069G>A (p.Gln4023=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701309T>A | CA359192417 | DNAH5 | n.799A>T c.13466A>T (p.Gln4489Leu) c.13421A>T (p.Gln4474Leu) c.13574A>T (p.Gln4525Leu) c.13154A>T (p.Gln4385Leu) c.12479A>T (p.Gln4160Leu) c.8663A>T (p.Gln2888Leu) c.8216A>T (p.Gln2739Leu) c.7553A>T (p.Gln2518Leu) c.12068A>T (p.Gln4023Leu) | |
| 5 | g.13701309T>C | CA359192414 | DNAH5 | n.799A>G c.13466A>G (p.Gln4489Arg) c.13421A>G (p.Gln4474Arg) c.13574A>G (p.Gln4525Arg) c.13154A>G (p.Gln4385Arg) c.12479A>G (p.Gln4160Arg) c.8663A>G (p.Gln2888Arg) c.8216A>G (p.Gln2739Arg) c.7553A>G (p.Gln2518Arg) c.12068A>G (p.Gln4023Arg) | |
| 5 | g.13701309T>G | CA359192413 | DNAH5 | n.799A>C c.13466A>C (p.Gln4489Pro) c.13421A>C (p.Gln4474Pro) c.13574A>C (p.Gln4525Pro) c.13154A>C (p.Gln4385Pro) c.12479A>C (p.Gln4160Pro) c.8663A>C (p.Gln2888Pro) c.8216A>C (p.Gln2739Pro) c.7553A>C (p.Gln2518Pro) c.12068A>C (p.Gln4023Pro) | |
| 5 | g.13701309_13701310delinsTG | CA1528399892 | DNAH5 | n.798_799delinsCA c.13465_13466delinsCA (p.Gln4489=) c.13420_13421delinsCA (p.Gln4474=) c.13573_13574delinsCA (p.Gln4525=) c.13153_13154delinsCA (p.Gln4385=) c.12478_12479delinsCA (p.Gln4160=) c.8662_8663delinsCA (p.Gln2888=) c.8215_8216delinsCA (p.Gln2739=) c.7552_7553delinsCA (p.Gln2518=) c.12067_12068delinsCA (p.Gln4023=) | |
| 5 | g.13701310G>A | CA359192420 | DNAH5 | n.798C>T c.13465C>T (p.Gln4489Ter) c.13420C>T (p.Gln4474Ter) c.13573C>T (p.Gln4525Ter) c.13153C>T (p.Gln4385Ter) c.12478C>T (p.Gln4160Ter) c.8662C>T (p.Gln2888Ter) c.8215C>T (p.Gln2739Ter) c.7552C>T (p.Gln2518Ter) c.12067C>T (p.Gln4023Ter) | ClinVar |
| 5 | g.13701310G>C | CA359192422 | DNAH5 | n.798C>G c.13465C>G (p.Gln4489Glu) c.13420C>G (p.Gln4474Glu) c.13573C>G (p.Gln4525Glu) c.13153C>G (p.Gln4385Glu) c.12478C>G (p.Gln4160Glu) c.8662C>G (p.Gln2888Glu) c.8215C>G (p.Gln2739Glu) c.7552C>G (p.Gln2518Glu) c.12067C>G (p.Gln4023Glu) | |
| 5 | g.13701310G>T | CA359192424 | DNAH5 | n.798C>A c.13465C>A (p.Gln4489Lys) c.13420C>A (p.Gln4474Lys) c.13573C>A (p.Gln4525Lys) c.13153C>A (p.Gln4385Lys) c.12478C>A (p.Gln4160Lys) c.8662C>A (p.Gln2888Lys) c.8215C>A (p.Gln2739Lys) c.7552C>A (p.Gln2518Lys) c.12067C>A (p.Gln4023Lys) | gnomAD v4 |
| 5 | g.13701314dup | CA2832546868 | DNAH5 | n.798dup c.13465dup (p.Gln4489ProfsTer28) c.13420dup (p.Gln4474ProfsTer28) c.13573dup (p.Gln4525ProfsTer28) c.13153dup (p.Gln4385ProfsTer28) c.12478dup (p.Gln4160ProfsTer28) c.8662dup (p.Gln2888ProfsTer28) c.8215dup (p.Gln2739ProfsTer28) c.7552dup (p.Gln2518ProfsTer28) c.12067dup (p.Gln4023ProfsTer28) | |
| 5 | g.13701314del | CA1073393150 | DNAH5 | n.798del c.13465del (p.Gln4489ArgfsTer4) c.13420del (p.Gln4474ArgfsTer4) c.13573del (p.Gln4525ArgfsTer4) c.13153del (p.Gln4385ArgfsTer4) c.12478del (p.Gln4160ArgfsTer4) c.8662del (p.Gln2888ArgfsTer4) c.8215del (p.Gln2739ArgfsTer4) c.7552del (p.Gln2518ArgfsTer4) c.12067del (p.Gln4023ArgfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13701311G>A | CA443250531 | DNAH5 | n.797C>T c.13464C>T (p.Pro4488=) c.13419C>T (p.Pro4473=) c.13572C>T (p.Pro4524=) c.13152C>T (p.Pro4384=) c.12477C>T (p.Pro4159=) c.8661C>T (p.Pro2887=) c.8214C>T (p.Pro2738=) c.7551C>T (p.Pro2517=) c.12066C>T (p.Pro4022=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13701311G>C | CA443250532 | DNAH5 | n.797C>G c.13464C>G (p.Pro4488=) c.13419C>G (p.Pro4473=) c.13572C>G (p.Pro4524=) c.13152C>G (p.Pro4384=) c.12477C>G (p.Pro4159=) c.8661C>G (p.Pro2887=) c.8214C>G (p.Pro2738=) c.7551C>G (p.Pro2517=) c.12066C>G (p.Pro4022=) | |
| 5 | g.13701311G= | CA1528399893 | DNAH5 | n.797C= c.13464C= (p.Pro4488=) c.13419C= (p.Pro4473=) c.13572C= (p.Pro4524=) c.13152C= (p.Pro4384=) c.12477C= (p.Pro4159=) c.8661C= (p.Pro2887=) c.8214C= (p.Pro2738=) c.7551C= (p.Pro2517=) c.12066C= (p.Pro4022=) | |
| 5 | g.13701311G>T | CA443250534 | DNAH5 | n.797C>A c.13464C>A (p.Pro4488=) c.13419C>A (p.Pro4473=) c.13572C>A (p.Pro4524=) c.13152C>A (p.Pro4384=) c.12477C>A (p.Pro4159=) c.8661C>A (p.Pro2887=) c.8214C>A (p.Pro2738=) c.7551C>A (p.Pro2517=) c.12066C>A (p.Pro4022=) | |
| 5 | g.13701312G>A | CA359192427 | DNAH5 | n.796C>T c.13463C>T (p.Pro4488Leu) c.13418C>T (p.Pro4473Leu) c.13571C>T (p.Pro4524Leu) c.13151C>T (p.Pro4384Leu) c.12476C>T (p.Pro4159Leu) c.8660C>T (p.Pro2887Leu) c.8213C>T (p.Pro2738Leu) c.7550C>T (p.Pro2517Leu) c.12065C>T (p.Pro4022Leu) | dbSNP gnomAD v4 |
| 5 | g.13701312G>C | CA359192429 | DNAH5 | n.796C>G c.13463C>G (p.Pro4488Arg) c.13418C>G (p.Pro4473Arg) c.13571C>G (p.Pro4524Arg) c.13151C>G (p.Pro4384Arg) c.12476C>G (p.Pro4159Arg) c.8660C>G (p.Pro2887Arg) c.8213C>G (p.Pro2738Arg) c.7550C>G (p.Pro2517Arg) c.12065C>G (p.Pro4022Arg) | |
| 5 | g.13701312G= | CA1528399894 | DNAH5 | n.796C= c.13463C= (p.Pro4488=) c.13418C= (p.Pro4473=) c.13571C= (p.Pro4524=) c.13151C= (p.Pro4384=) c.12476C= (p.Pro4159=) c.8660C= (p.Pro2887=) c.8213C= (p.Pro2738=) c.7550C= (p.Pro2517=) c.12065C= (p.Pro4022=) | |
| 5 | g.13701312G>T | CA359192430 | DNAH5 | n.796C>A c.13463C>A (p.Pro4488His) c.13418C>A (p.Pro4473His) c.13571C>A (p.Pro4524His) c.13151C>A (p.Pro4384His) c.12476C>A (p.Pro4159His) c.8660C>A (p.Pro2887His) c.8213C>A (p.Pro2738His) c.7550C>A (p.Pro2517His) c.12065C>A (p.Pro4022His) | |
| 5 | g.13701313G>A | CA359192432 | DNAH5 | n.795C>T c.13462C>T (p.Pro4488Ser) c.13417C>T (p.Pro4473Ser) c.13570C>T (p.Pro4524Ser) c.13150C>T (p.Pro4384Ser) c.12475C>T (p.Pro4159Ser) c.8659C>T (p.Pro2887Ser) c.8212C>T (p.Pro2738Ser) c.7549C>T (p.Pro2517Ser) c.12064C>T (p.Pro4022Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13701313G>C | CA359192435 | DNAH5 | n.795C>G c.13462C>G (p.Pro4488Ala) c.13417C>G (p.Pro4473Ala) c.13570C>G (p.Pro4524Ala) c.13150C>G (p.Pro4384Ala) c.12475C>G (p.Pro4159Ala) c.8659C>G (p.Pro2887Ala) c.8212C>G (p.Pro2738Ala) c.7549C>G (p.Pro2517Ala) c.12064C>G (p.Pro4022Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13701313G= | CA1528399895 | DNAH5 | n.795C= c.13462C= (p.Pro4488=) c.13417C= (p.Pro4473=) c.13570C= (p.Pro4524=) c.13150C= (p.Pro4384=) c.12475C= (p.Pro4159=) c.8659C= (p.Pro2887=) c.8212C= (p.Pro2738=) c.7549C= (p.Pro2517=) c.12064C= (p.Pro4022=) | |
| 5 | g.13701313G>T | CA3201357 | DNAH5 | n.795C>A c.13462C>A (p.Pro4488Thr) c.13417C>A (p.Pro4473Thr) c.13570C>A (p.Pro4524Thr) c.13150C>A (p.Pro4384Thr) c.12475C>A (p.Pro4159Thr) c.8659C>A (p.Pro2887Thr) c.8212C>A (p.Pro2738Thr) c.7549C>A (p.Pro2517Thr) c.12064C>A (p.Pro4022Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701314G>A | CA3201358 | DNAH5 | n.794C>T c.13461C>T (p.Asn4487=) c.13416C>T (p.Asn4472=) c.13569C>T (p.Asn4523=) c.13149C>T (p.Asn4383=) c.12474C>T (p.Asn4158=) c.8658C>T (p.Asn2886=) c.8211C>T (p.Asn2737=) c.7548C>T (p.Asn2516=) c.12063C>T (p.Asn4021=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701314G>C | CA359192439 | DNAH5 | n.794C>G c.13461C>G (p.Asn4487Lys) c.13416C>G (p.Asn4472Lys) c.13569C>G (p.Asn4523Lys) c.13149C>G (p.Asn4383Lys) c.12474C>G (p.Asn4158Lys) c.8658C>G (p.Asn2886Lys) c.8211C>G (p.Asn2737Lys) c.7548C>G (p.Asn2516Lys) c.12063C>G (p.Asn4021Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13701314G= | CA1528399896 | DNAH5 | n.794C= c.13461C= (p.Asn4487=) c.13416C= (p.Asn4472=) c.13569C= (p.Asn4523=) c.13149C= (p.Asn4383=) c.12474C= (p.Asn4158=) c.8658C= (p.Asn2886=) c.8211C= (p.Asn2737=) c.7548C= (p.Asn2516=) c.12063C= (p.Asn4021=) | |
| 5 | g.13701314G>T | CA359192441 | DNAH5 | n.794C>A c.13461C>A (p.Asn4487Lys) c.13416C>A (p.Asn4472Lys) c.13569C>A (p.Asn4523Lys) c.13149C>A (p.Asn4383Lys) c.12474C>A (p.Asn4158Lys) c.8658C>A (p.Asn2886Lys) c.8211C>A (p.Asn2737Lys) c.7548C>A (p.Asn2516Lys) c.12063C>A (p.Asn4021Lys) | gnomAD v4 |
| 5 | g.13701315T>A | CA359192445 | DNAH5 | n.793A>T c.13460A>T (p.Asn4487Ile) c.13415A>T (p.Asn4472Ile) c.13568A>T (p.Asn4523Ile) c.13148A>T (p.Asn4383Ile) c.12473A>T (p.Asn4158Ile) c.8657A>T (p.Asn2886Ile) c.8210A>T (p.Asn2737Ile) c.7547A>T (p.Asn2516Ile) c.12062A>T (p.Asn4021Ile) | |
| 5 | g.13701315T>C | CA359192450 | DNAH5 | n.793A>G c.13460A>G (p.Asn4487Ser) c.13415A>G (p.Asn4472Ser) c.13568A>G (p.Asn4523Ser) c.13148A>G (p.Asn4383Ser) c.12473A>G (p.Asn4158Ser) c.8657A>G (p.Asn2886Ser) c.8210A>G (p.Asn2737Ser) c.7547A>G (p.Asn2516Ser) c.12062A>G (p.Asn4021Ser) | dbSNP |
| 5 | g.13701315T>G | CA359192463 | DNAH5 | n.793A>C c.13460A>C (p.Asn4487Thr) c.13415A>C (p.Asn4472Thr) c.13568A>C (p.Asn4523Thr) c.13148A>C (p.Asn4383Thr) c.12473A>C (p.Asn4158Thr) c.8657A>C (p.Asn2886Thr) c.8210A>C (p.Asn2737Thr) c.7547A>C (p.Asn2516Thr) c.12062A>C (p.Asn4021Thr) | |
| 5 | g.13701315T= | CA1528399897 | DNAH5 | n.793A= c.13460A= (p.Asn4487=) c.13415A= (p.Asn4472=) c.13568A= (p.Asn4523=) c.13148A= (p.Asn4383=) c.12473A= (p.Asn4158=) c.8657A= (p.Asn2886=) c.8210A= (p.Asn2737=) c.7547A= (p.Asn2516=) c.12062A= (p.Asn4021=) | |
| 5 | g.13701316dup | CA2695204122 | DNAH5 | n.793dup c.13460dup (p.Asn4487LysfsTer30) c.13415dup (p.Asn4472LysfsTer30) c.13568dup (p.Asn4523LysfsTer30) c.13148dup (p.Asn4383LysfsTer30) c.12473dup (p.Asn4158LysfsTer30) c.8657dup (p.Asn2886LysfsTer30) c.8210dup (p.Asn2737LysfsTer30) c.7547dup (p.Asn2516LysfsTer30) c.12062dup (p.Asn4021LysfsTer30) | |
| 5 | g.13701316T>A | CA359192469 | DNAH5 | n.792A>T c.13459A>T (p.Asn4487Tyr) c.13414A>T (p.Asn4472Tyr) c.13567A>T (p.Asn4523Tyr) c.13147A>T (p.Asn4383Tyr) c.12472A>T (p.Asn4158Tyr) c.8656A>T (p.Asn2886Tyr) c.8209A>T (p.Asn2737Tyr) c.7546A>T (p.Asn2516Tyr) c.12061A>T (p.Asn4021Tyr) | |
| 5 | g.13701316T>C | CA359192471 | DNAH5 | n.792A>G c.13459A>G (p.Asn4487Asp) c.13414A>G (p.Asn4472Asp) c.13567A>G (p.Asn4523Asp) c.13147A>G (p.Asn4383Asp) c.12472A>G (p.Asn4158Asp) c.8656A>G (p.Asn2886Asp) c.8209A>G (p.Asn2737Asp) c.7546A>G (p.Asn2516Asp) c.12061A>G (p.Asn4021Asp) | |
| 5 | g.13701316T>G | CA359192485 | DNAH5 | n.792A>C c.13459A>C (p.Asn4487His) c.13414A>C (p.Asn4472His) c.13567A>C (p.Asn4523His) c.13147A>C (p.Asn4383His) c.12472A>C (p.Asn4158His) c.8656A>C (p.Asn2886His) c.8209A>C (p.Asn2737His) c.7546A>C (p.Asn2516His) c.12061A>C (p.Asn4021His) | |
| 5 | g.13701316T= | CA1528399898 | DNAH5 | n.792A= c.13459A= (p.Asn4487=) c.13414A= (p.Asn4472=) c.13567A= (p.Asn4523=) c.13147A= (p.Asn4383=) c.12472A= (p.Asn4158=) c.8656A= (p.Asn2886=) c.8209A= (p.Asn2737=) c.7546A= (p.Asn2516=) c.12061A= (p.Asn4021=) | |
| 5 | g.13701317A>C | CA359192494 | DNAH5 | n.791T>G c.13458T>G (p.Phe4486Leu) c.13413T>G (p.Phe4471Leu) c.13566T>G (p.Phe4522Leu) c.13146T>G (p.Phe4382Leu) c.12471T>G (p.Phe4157Leu) c.8655T>G (p.Phe2885Leu) c.8208T>G (p.Phe2736Leu) c.7545T>G (p.Phe2515Leu) c.12060T>G (p.Phe4020Leu) | |
| 5 | g.13701317A>G | CA443250541 | DNAH5 | n.791T>C c.13458T>C (p.Phe4486=) c.13413T>C (p.Phe4471=) c.13566T>C (p.Phe4522=) c.13146T>C (p.Phe4382=) c.12471T>C (p.Phe4157=) c.8655T>C (p.Phe2885=) c.8208T>C (p.Phe2736=) c.7545T>C (p.Phe2515=) c.12060T>C (p.Phe4020=) | |
| 5 | g.13701317A>T | CA359192497 | DNAH5 | n.791T>A c.13458T>A (p.Phe4486Leu) c.13413T>A (p.Phe4471Leu) c.13566T>A (p.Phe4522Leu) c.13146T>A (p.Phe4382Leu) c.12471T>A (p.Phe4157Leu) c.8655T>A (p.Phe2885Leu) c.8208T>A (p.Phe2736Leu) c.7545T>A (p.Phe2515Leu) c.12060T>A (p.Phe4020Leu) | |
| 5 | g.13701323dup | CA3201359 | DNAH5 | n.791dup c.13458dup (p.Asn4487Ter) c.13413dup (p.Asn4472Ter) c.13566dup (p.Asn4523Ter) c.13146dup (p.Asn4383Ter) c.12471dup (p.Asn4158Ter) c.8655dup (p.Asn2886Ter) c.8208dup (p.Asn2737Ter) c.7545dup (p.Asn2516Ter) c.12060dup (p.Asn4021Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.13701323del | CA443250539 | DNAH5 | n.791del c.13458del (p.Phe4486LeufsTer7) c.13413del (p.Phe4471LeufsTer7) c.13566del (p.Phe4522LeufsTer7) c.13146del (p.Phe4382LeufsTer7) c.12471del (p.Phe4157LeufsTer7) c.8655del (p.Phe2885LeufsTer7) c.8208del (p.Phe2736LeufsTer7) c.7545del (p.Phe2515LeufsTer7) c.12060del (p.Phe4020LeufsTer7) | ClinVar gnomAD v4 COSMIC |
| 5 | g.13701318A>C | CA359192506 | DNAH5 | n.790T>G c.13457T>G (p.Phe4486Cys) c.13412T>G (p.Phe4471Cys) c.13565T>G (p.Phe4522Cys) c.13145T>G (p.Phe4382Cys) c.12470T>G (p.Phe4157Cys) c.8654T>G (p.Phe2885Cys) c.8207T>G (p.Phe2736Cys) c.7544T>G (p.Phe2515Cys) c.12059T>G (p.Phe4020Cys) | |
| 5 | g.13701318A>G | CA359192501 | DNAH5 | n.790T>C c.13457T>C (p.Phe4486Ser) c.13412T>C (p.Phe4471Ser) c.13565T>C (p.Phe4522Ser) c.13145T>C (p.Phe4382Ser) c.12470T>C (p.Phe4157Ser) c.8654T>C (p.Phe2885Ser) c.8207T>C (p.Phe2736Ser) c.7544T>C (p.Phe2515Ser) c.12059T>C (p.Phe4020Ser) | gnomAD v4 |
| 5 | g.13701318A>T | CA359192504 | DNAH5 | n.790T>A c.13457T>A (p.Phe4486Tyr) c.13412T>A (p.Phe4471Tyr) c.13565T>A (p.Phe4522Tyr) c.13145T>A (p.Phe4382Tyr) c.12470T>A (p.Phe4157Tyr) c.8654T>A (p.Phe2885Tyr) c.8207T>A (p.Phe2736Tyr) c.7544T>A (p.Phe2515Tyr) c.12059T>A (p.Phe4020Tyr) | |
| 5 | g.13701319A>C | CA359192516 | DNAH5 | n.789T>G c.13456T>G (p.Phe4486Val) c.13411T>G (p.Phe4471Val) c.13564T>G (p.Phe4522Val) c.13144T>G (p.Phe4382Val) c.12469T>G (p.Phe4157Val) c.8653T>G (p.Phe2885Val) c.8206T>G (p.Phe2736Val) c.7543T>G (p.Phe2515Val) c.12058T>G (p.Phe4020Val) | |
| 5 | g.13701319A>G | CA359192518 | DNAH5 | n.789T>C c.13456T>C (p.Phe4486Leu) c.13411T>C (p.Phe4471Leu) c.13564T>C (p.Phe4522Leu) c.13144T>C (p.Phe4382Leu) c.12469T>C (p.Phe4157Leu) c.8653T>C (p.Phe2885Leu) c.8206T>C (p.Phe2736Leu) c.7543T>C (p.Phe2515Leu) c.12058T>C (p.Phe4020Leu) | |
| 5 | g.13701319A>T | CA359192519 | DNAH5 | n.789T>A c.13456T>A (p.Phe4486Ile) c.13411T>A (p.Phe4471Ile) c.13564T>A (p.Phe4522Ile) c.13144T>A (p.Phe4382Ile) c.12469T>A (p.Phe4157Ile) c.8653T>A (p.Phe2885Ile) c.8206T>A (p.Phe2736Ile) c.7543T>A (p.Phe2515Ile) c.12058T>A (p.Phe4020Ile) | |
| 5 | g.13701320A>C | CA359192520 | DNAH5 | n.788T>G c.13455T>G (p.Phe4485Leu) c.13410T>G (p.Phe4470Leu) c.13563T>G (p.Phe4521Leu) c.13143T>G (p.Phe4381Leu) c.12468T>G (p.Phe4156Leu) c.8652T>G (p.Phe2884Leu) c.8205T>G (p.Phe2735Leu) c.7542T>G (p.Phe2514Leu) c.12057T>G (p.Phe4019Leu) | |
| 5 | g.13701320A>G | CA443250542 | DNAH5 | n.788T>C c.13455T>C (p.Phe4485=) c.13410T>C (p.Phe4470=) c.13563T>C (p.Phe4521=) c.13143T>C (p.Phe4381=) c.12468T>C (p.Phe4156=) c.8652T>C (p.Phe2884=) c.8205T>C (p.Phe2735=) c.7542T>C (p.Phe2514=) c.12057T>C (p.Phe4019=) | |
| 5 | g.13701320A>T | CA359192521 | DNAH5 | n.788T>A c.13455T>A (p.Phe4485Leu) c.13410T>A (p.Phe4470Leu) c.13563T>A (p.Phe4521Leu) c.13143T>A (p.Phe4381Leu) c.12468T>A (p.Phe4156Leu) c.8652T>A (p.Phe2884Leu) c.8205T>A (p.Phe2735Leu) c.7542T>A (p.Phe2514Leu) c.12057T>A (p.Phe4019Leu) | |
| 5 | g.13701321A>C | CA359192522 | DNAH5 | n.787T>G c.13454T>G (p.Phe4485Cys) c.13409T>G (p.Phe4470Cys) c.13562T>G (p.Phe4521Cys) c.13142T>G (p.Phe4381Cys) c.12467T>G (p.Phe4156Cys) c.8651T>G (p.Phe2884Cys) c.8204T>G (p.Phe2735Cys) c.7541T>G (p.Phe2514Cys) c.12056T>G (p.Phe4019Cys) | |
| 5 | g.13701321A>G | CA359192523 | DNAH5 | n.787T>C c.13454T>C (p.Phe4485Ser) c.13409T>C (p.Phe4470Ser) c.13562T>C (p.Phe4521Ser) c.13142T>C (p.Phe4381Ser) c.12467T>C (p.Phe4156Ser) c.8651T>C (p.Phe2884Ser) c.8204T>C (p.Phe2735Ser) c.7541T>C (p.Phe2514Ser) c.12056T>C (p.Phe4019Ser) | |
| 5 | g.13701321A>T | CA359192525 | DNAH5 | n.787T>A c.13454T>A (p.Phe4485Tyr) c.13409T>A (p.Phe4470Tyr) c.13562T>A (p.Phe4521Tyr) c.13142T>A (p.Phe4381Tyr) c.12467T>A (p.Phe4156Tyr) c.8651T>A (p.Phe2884Tyr) c.8204T>A (p.Phe2735Tyr) c.7541T>A (p.Phe2514Tyr) c.12056T>A (p.Phe4019Tyr) | COSMIC |
| 5 | g.13701322A>C | CA359192530 | DNAH5 | n.786T>G c.13453T>G (p.Phe4485Val) c.13408T>G (p.Phe4470Val) c.13561T>G (p.Phe4521Val) c.13141T>G (p.Phe4381Val) c.12466T>G (p.Phe4156Val) c.8650T>G (p.Phe2884Val) c.8203T>G (p.Phe2735Val) c.7540T>G (p.Phe2514Val) c.12055T>G (p.Phe4019Val) | |
| 5 | g.13701322A>G | CA359192534 | DNAH5 | n.786T>C c.13453T>C (p.Phe4485Leu) c.13408T>C (p.Phe4470Leu) c.13561T>C (p.Phe4521Leu) c.13141T>C (p.Phe4381Leu) c.12466T>C (p.Phe4156Leu) c.8650T>C (p.Phe2884Leu) c.8203T>C (p.Phe2735Leu) c.7540T>C (p.Phe2514Leu) c.12055T>C (p.Phe4019Leu) | |
| 5 | g.13701322A>T | CA359192536 | DNAH5 | n.786T>A c.13453T>A (p.Phe4485Ile) c.13408T>A (p.Phe4470Ile) c.13561T>A (p.Phe4521Ile) c.13141T>A (p.Phe4381Ile) c.12466T>A (p.Phe4156Ile) c.8650T>A (p.Phe2884Ile) c.8203T>A (p.Phe2735Ile) c.7540T>A (p.Phe2514Ile) c.12055T>A (p.Phe4019Ile) | |
| 5 | g.13701323A= | CA1528399899 | DNAH5 | n.785T= c.13452T= (p.Gly4484=) c.13407T= (p.Gly4469=) c.13560T= (p.Gly4520=) c.13140T= (p.Gly4380=) c.12465T= (p.Gly4155=) c.8649T= (p.Gly2883=) c.8202T= (p.Gly2734=) c.7539T= (p.Gly2513=) c.12054T= (p.Gly4018=) | |
| 5 | g.13701323A>C | CA3201361 | DNAH5 | n.785T>G c.13452T>G (p.Gly4484=) c.13407T>G (p.Gly4469=) c.13560T>G (p.Gly4520=) c.13140T>G (p.Gly4380=) c.12465T>G (p.Gly4155=) c.8649T>G (p.Gly2883=) c.8202T>G (p.Gly2734=) c.7539T>G (p.Gly2513=) c.12054T>G (p.Gly4018=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701323A>G | CA443250544 | DNAH5 | n.785T>C c.13452T>C (p.Gly4484=) c.13407T>C (p.Gly4469=) c.13560T>C (p.Gly4520=) c.13140T>C (p.Gly4380=) c.12465T>C (p.Gly4155=) c.8649T>C (p.Gly2883=) c.8202T>C (p.Gly2734=) c.7539T>C (p.Gly2513=) c.12054T>C (p.Gly4018=) | ClinVar gnomAD v4 |
| 5 | g.13701323A>T | CA3201360 | DNAH5 | n.785T>A c.13452T>A (p.Gly4484=) c.13407T>A (p.Gly4469=) c.13560T>A (p.Gly4520=) c.13140T>A (p.Gly4380=) c.12465T>A (p.Gly4155=) c.8649T>A (p.Gly2883=) c.8202T>A (p.Gly2734=) c.7539T>A (p.Gly2513=) c.12054T>A (p.Gly4018=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701324C>A | CA359192539 | DNAH5 | n.784G>T c.13451G>T (p.Gly4484Val) c.13406G>T (p.Gly4469Val) c.13559G>T (p.Gly4520Val) c.13139G>T (p.Gly4380Val) c.12464G>T (p.Gly4155Val) c.8648G>T (p.Gly2883Val) c.8201G>T (p.Gly2734Val) c.7538G>T (p.Gly2513Val) c.12053G>T (p.Gly4018Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701324C= | CA1528399900 | DNAH5 | n.784G= c.13451G= (p.Gly4484=) c.13406G= (p.Gly4469=) c.13559G= (p.Gly4520=) c.13139G= (p.Gly4380=) c.12464G= (p.Gly4155=) c.8648G= (p.Gly2883=) c.8201G= (p.Gly2734=) c.7538G= (p.Gly2513=) c.12053G= (p.Gly4018=) | |
| 5 | g.13701324C>G | CA359192538 | DNAH5 | n.784G>C c.13451G>C (p.Gly4484Ala) c.13406G>C (p.Gly4469Ala) c.13559G>C (p.Gly4520Ala) c.13139G>C (p.Gly4380Ala) c.12464G>C (p.Gly4155Ala) c.8648G>C (p.Gly2883Ala) c.8201G>C (p.Gly2734Ala) c.7538G>C (p.Gly2513Ala) c.12053G>C (p.Gly4018Ala) | |
| 5 | g.13701324C>T | CA359192537 | DNAH5 | n.784G>A c.13451G>A (p.Gly4484Asp) c.13406G>A (p.Gly4469Asp) c.13559G>A (p.Gly4520Asp) c.13139G>A (p.Gly4380Asp) c.12464G>A (p.Gly4155Asp) c.8648G>A (p.Gly2883Asp) c.8201G>A (p.Gly2734Asp) c.7538G>A (p.Gly2513Asp) c.12053G>A (p.Gly4018Asp) | |
| 5 | g.13701326del | CA2673266401 | DNAH5 | n.784del c.13451del (p.Gly4484ValfsTer9) c.13406del (p.Gly4469ValfsTer9) c.13559del (p.Gly4520ValfsTer9) c.13139del (p.Gly4380ValfsTer9) c.12464del (p.Gly4155ValfsTer9) c.8648del (p.Gly2883ValfsTer9) c.8201del (p.Gly2734ValfsTer9) c.7538del (p.Gly2513ValfsTer9) c.12053del (p.Gly4018ValfsTer9) | gnomAD v4 |
| 5 | g.13701325C>A | CA359192543 | DNAH5 | n.783G>T c.13450G>T (p.Gly4484Cys) c.13405G>T (p.Gly4469Cys) c.13558G>T (p.Gly4520Cys) c.13138G>T (p.Gly4380Cys) c.12463G>T (p.Gly4155Cys) c.8647G>T (p.Gly2883Cys) c.8200G>T (p.Gly2734Cys) c.7537G>T (p.Gly2513Cys) c.12052G>T (p.Gly4018Cys) | |
| 5 | g.13701325C= | CA1528399901 | DNAH5 | n.783G= c.13450G= (p.Gly4484=) c.13405G= (p.Gly4469=) c.13558G= (p.Gly4520=) c.13138G= (p.Gly4380=) c.12463G= (p.Gly4155=) c.8647G= (p.Gly2883=) c.8200G= (p.Gly2734=) c.7537G= (p.Gly2513=) c.12052G= (p.Gly4018=) | |
| 5 | g.13701325C>G | CA359192545 | DNAH5 | n.783G>C c.13450G>C (p.Gly4484Arg) c.13405G>C (p.Gly4469Arg) c.13558G>C (p.Gly4520Arg) c.13138G>C (p.Gly4380Arg) c.12463G>C (p.Gly4155Arg) c.8647G>C (p.Gly2883Arg) c.8200G>C (p.Gly2734Arg) c.7537G>C (p.Gly2513Arg) c.12052G>C (p.Gly4018Arg) | |
| 5 | g.13701325C>T | CA3201362 | DNAH5 | n.783G>A c.13450G>A (p.Gly4484Ser) c.13405G>A (p.Gly4469Ser) c.13558G>A (p.Gly4520Ser) c.13138G>A (p.Gly4380Ser) c.12463G>A (p.Gly4155Ser) c.8647G>A (p.Gly2883Ser) c.8200G>A (p.Gly2734Ser) c.7537G>A (p.Gly2513Ser) c.12052G>A (p.Gly4018Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13701326C>A | CA443250546 | DNAH5 | n.782G>T c.13449G>T (p.Thr4483=) c.13404G>T (p.Thr4468=) c.13557G>T (p.Thr4519=) c.13137G>T (p.Thr4379=) c.12462G>T (p.Thr4154=) c.8646G>T (p.Thr2882=) c.8199G>T (p.Thr2733=) c.7536G>T (p.Thr2512=) c.12051G>T (p.Thr4017=) | |
| 5 | g.13701326C= | CA1528399902 | DNAH5 | n.782G= c.13449G= (p.Thr4483=) c.13404G= (p.Thr4468=) c.13557G= (p.Thr4519=) c.13137G= (p.Thr4379=) c.12462G= (p.Thr4154=) c.8646G= (p.Thr2882=) c.8199G= (p.Thr2733=) c.7536G= (p.Thr2512=) c.12051G= (p.Thr4017=) | |
| 5 | g.13701326C>G | CA443250547 | DNAH5 | n.782G>C c.13449G>C (p.Thr4483=) c.13404G>C (p.Thr4468=) c.13557G>C (p.Thr4519=) c.13137G>C (p.Thr4379=) c.12462G>C (p.Thr4154=) c.8646G>C (p.Thr2882=) c.8199G>C (p.Thr2733=) c.7536G>C (p.Thr2512=) c.12051G>C (p.Thr4017=) | ClinVar gnomAD v4 |
| 5 | g.13701326C>T | CA3201363 | DNAH5 | n.782G>A c.13449G>A (p.Thr4483=) c.13404G>A (p.Thr4468=) c.13557G>A (p.Thr4519=) c.13137G>A (p.Thr4379=) c.12462G>A (p.Thr4154=) c.8646G>A (p.Thr2882=) c.8199G>A (p.Thr2733=) c.7536G>A (p.Thr2512=) c.12051G>A (p.Thr4017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13701327G>A | CA3201364 | DNAH5 | n.781C>T c.13448C>T (p.Thr4483Met) c.13403C>T (p.Thr4468Met) c.13556C>T (p.Thr4519Met) c.13136C>T (p.Thr4379Met) c.12461C>T (p.Thr4154Met) c.8645C>T (p.Thr2882Met) c.8198C>T (p.Thr2733Met) c.7535C>T (p.Thr2512Met) c.12050C>T (p.Thr4017Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13701327G>C | CA359192548 | DNAH5 | n.781C>G c.13448C>G (p.Thr4483Arg) c.13403C>G (p.Thr4468Arg) c.13556C>G (p.Thr4519Arg) c.13136C>G (p.Thr4379Arg) c.12461C>G (p.Thr4154Arg) c.8645C>G (p.Thr2882Arg) c.8198C>G (p.Thr2733Arg) c.7535C>G (p.Thr2512Arg) c.12050C>G (p.Thr4017Arg) | |
| 5 | g.13701327G= | CA1528399903 | DNAH5 | n.781C= c.13448C= (p.Thr4483=) c.13403C= (p.Thr4468=) c.13556C= (p.Thr4519=) c.13136C= (p.Thr4379=) c.12461C= (p.Thr4154=) c.8645C= (p.Thr2882=) c.8198C= (p.Thr2733=) c.7535C= (p.Thr2512=) c.12050C= (p.Thr4017=) | |
| 5 | g.13701327G>T | CA359192549 | DNAH5 | n.781C>A c.13448C>A (p.Thr4483Lys) c.13403C>A (p.Thr4468Lys) c.13556C>A (p.Thr4519Lys) c.13136C>A (p.Thr4379Lys) c.12461C>A (p.Thr4154Lys) c.8645C>A (p.Thr2882Lys) c.8198C>A (p.Thr2733Lys) c.7535C>A (p.Thr2512Lys) c.12050C>A (p.Thr4017Lys) | |
| 5 | g.13701328T>A | CA3201365 | DNAH5 | n.780A>T c.13447A>T (p.Thr4483Ser) c.13402A>T (p.Thr4468Ser) c.13555A>T (p.Thr4519Ser) c.13135A>T (p.Thr4379Ser) c.12460A>T (p.Thr4154Ser) c.8644A>T (p.Thr2882Ser) c.8197A>T (p.Thr2733Ser) c.7534A>T (p.Thr2512Ser) c.12049A>T (p.Thr4017Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701328T>C | CA359192551 | DNAH5 | n.780A>G c.13447A>G (p.Thr4483Ala) c.13402A>G (p.Thr4468Ala) c.13555A>G (p.Thr4519Ala) c.13135A>G (p.Thr4379Ala) c.12460A>G (p.Thr4154Ala) c.8644A>G (p.Thr2882Ala) c.8197A>G (p.Thr2733Ala) c.7534A>G (p.Thr2512Ala) c.12049A>G (p.Thr4017Ala) | |
| 5 | g.13701328T>G | CA359192559 | DNAH5 | n.780A>C c.13447A>C (p.Thr4483Pro) c.13402A>C (p.Thr4468Pro) c.13555A>C (p.Thr4519Pro) c.13135A>C (p.Thr4379Pro) c.12460A>C (p.Thr4154Pro) c.8644A>C (p.Thr2882Pro) c.8197A>C (p.Thr2733Pro) c.7534A>C (p.Thr2512Pro) c.12049A>C (p.Thr4017Pro) | |
| 5 | g.13701328T= | CA1528399904 | DNAH5 | n.780A= c.13447A= (p.Thr4483=) c.13402A= (p.Thr4468=) c.13555A= (p.Thr4519=) c.13135A= (p.Thr4379=) c.12460A= (p.Thr4154=) c.8644A= (p.Thr2882=) c.8197A= (p.Thr2733=) c.7534A= (p.Thr2512=) c.12049A= (p.Thr4017=) | |
| 5 | g.13701329C>A | CA359192561 | DNAH5 | n.779G>T c.13446G>T (p.Met4482Ile) c.13401G>T (p.Met4467Ile) c.13554G>T (p.Met4518Ile) c.13134G>T (p.Met4378Ile) c.12459G>T (p.Met4153Ile) c.8643G>T (p.Met2881Ile) c.8196G>T (p.Met2732Ile) c.7533G>T (p.Met2511Ile) c.12048G>T (p.Met4016Ile) | |
| 5 | g.13701329C>G | CA359192564 | DNAH5 | n.779G>C c.13446G>C (p.Met4482Ile) c.13401G>C (p.Met4467Ile) c.13554G>C (p.Met4518Ile) c.13134G>C (p.Met4378Ile) c.12459G>C (p.Met4153Ile) c.8643G>C (p.Met2881Ile) c.8196G>C (p.Met2732Ile) c.7533G>C (p.Met2511Ile) c.12048G>C (p.Met4016Ile) | |
| 5 | g.13701329C>T | CA359192566 | DNAH5 | n.779G>A c.13446G>A (p.Met4482Ile) c.13401G>A (p.Met4467Ile) c.13554G>A (p.Met4518Ile) c.13134G>A (p.Met4378Ile) c.12459G>A (p.Met4153Ile) c.8643G>A (p.Met2881Ile) c.8196G>A (p.Met2732Ile) c.7533G>A (p.Met2511Ile) c.12048G>A (p.Met4016Ile) | COSMIC |
| 5 | g.13701330del | CA2580071988 | DNAH5 | n.778del c.13445del (p.Met4482ArgfsTer11) c.13400del (p.Met4467ArgfsTer11) c.13553del (p.Met4518ArgfsTer11) c.13133del (p.Met4378ArgfsTer11) c.12458del (p.Met4153ArgfsTer11) c.8642del (p.Met2881ArgfsTer11) c.8195del (p.Met2732ArgfsTer11) c.7532del (p.Met2511ArgfsTer11) c.12047del (p.Met4016ArgfsTer11) | ClinVar |
| 5 | g.13701330A>C | CA359192569 | DNAH5 | n.778T>G c.13445T>G (p.Met4482Arg) c.13400T>G (p.Met4467Arg) c.13553T>G (p.Met4518Arg) c.13133T>G (p.Met4378Arg) c.12458T>G (p.Met4153Arg) c.8642T>G (p.Met2881Arg) c.8195T>G (p.Met2732Arg) c.7532T>G (p.Met2511Arg) c.12047T>G (p.Met4016Arg) | |
| 5 | g.13701330A>G | CA359192568 | DNAH5 | n.778T>C c.13445T>C (p.Met4482Thr) c.13400T>C (p.Met4467Thr) c.13553T>C (p.Met4518Thr) c.13133T>C (p.Met4378Thr) c.12458T>C (p.Met4153Thr) c.8642T>C (p.Met2881Thr) c.8195T>C (p.Met2732Thr) c.7532T>C (p.Met2511Thr) c.12047T>C (p.Met4016Thr) | |
| 5 | g.13701330A>T | CA359192567 | DNAH5 | n.778T>A c.13445T>A (p.Met4482Lys) c.13400T>A (p.Met4467Lys) c.13553T>A (p.Met4518Lys) c.13133T>A (p.Met4378Lys) c.12458T>A (p.Met4153Lys) c.8642T>A (p.Met2881Lys) c.8195T>A (p.Met2732Lys) c.7532T>A (p.Met2511Lys) c.12047T>A (p.Met4016Lys) | |
| 5 | g.13701331T>A | CA3201366 | DNAH5 | n.777A>T c.13444A>T (p.Met4482Leu) c.13399A>T (p.Met4467Leu) c.13552A>T (p.Met4518Leu) c.13132A>T (p.Met4378Leu) c.12457A>T (p.Met4153Leu) c.8641A>T (p.Met2881Leu) c.8194A>T (p.Met2732Leu) c.7531A>T (p.Met2511Leu) c.12046A>T (p.Met4016Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701331T>C | CA359192574 | DNAH5 | n.777A>G c.13444A>G (p.Met4482Val) c.13399A>G (p.Met4467Val) c.13552A>G (p.Met4518Val) c.13132A>G (p.Met4378Val) c.12457A>G (p.Met4153Val) c.8641A>G (p.Met2881Val) c.8194A>G (p.Met2732Val) c.7531A>G (p.Met2511Val) c.12046A>G (p.Met4016Val) | |
| 5 | g.13701331T>G | CA359192572 | DNAH5 | n.777A>C c.13444A>C (p.Met4482Leu) c.13399A>C (p.Met4467Leu) c.13552A>C (p.Met4518Leu) c.13132A>C (p.Met4378Leu) c.12457A>C (p.Met4153Leu) c.8641A>C (p.Met2881Leu) c.8194A>C (p.Met2732Leu) c.7531A>C (p.Met2511Leu) c.12046A>C (p.Met4016Leu) | |
| 5 | g.13701331T= | CA1528399905 | DNAH5 | n.777A= c.13444A= (p.Met4482=) c.13399A= (p.Met4467=) c.13552A= (p.Met4518=) c.13132A= (p.Met4378=) c.12457A= (p.Met4153=) c.8641A= (p.Met2881=) c.8194A= (p.Met2732=) c.7531A= (p.Met2511=) c.12046A= (p.Met4016=) | |
| 5 | g.13701332C>A | CA359192577 | DNAH5 | n.776G>T c.13443G>T (p.Trp4481Cys) c.13398G>T (p.Trp4466Cys) c.13551G>T (p.Trp4517Cys) c.13131G>T (p.Trp4377Cys) c.12456G>T (p.Trp4152Cys) c.8640G>T (p.Trp2880Cys) c.8193G>T (p.Trp2731Cys) c.7530G>T (p.Trp2510Cys) c.12045G>T (p.Trp4015Cys) | |
| 5 | g.13701332C= | CA1528399906 | DNAH5 | n.776G= c.13443G= (p.Trp4481=) c.13398G= (p.Trp4466=) c.13551G= (p.Trp4517=) c.13131G= (p.Trp4377=) c.12456G= (p.Trp4152=) c.8640G= (p.Trp2880=) c.8193G= (p.Trp2731=) c.7530G= (p.Trp2510=) c.12045G= (p.Trp4015=) | |
| 5 | g.13701332C>G | CA359192579 | DNAH5 | n.776G>C c.13443G>C (p.Trp4481Cys) c.13398G>C (p.Trp4466Cys) c.13551G>C (p.Trp4517Cys) c.13131G>C (p.Trp4377Cys) c.12456G>C (p.Trp4152Cys) c.8640G>C (p.Trp2880Cys) c.8193G>C (p.Trp2731Cys) c.7530G>C (p.Trp2510Cys) c.12045G>C (p.Trp4015Cys) | |
| 5 | g.13701332C>T | CA359192583 | DNAH5 | n.776G>A c.13443G>A (p.Trp4481Ter) c.13398G>A (p.Trp4466Ter) c.13551G>A (p.Trp4517Ter) c.13131G>A (p.Trp4377Ter) c.12456G>A (p.Trp4152Ter) c.8640G>A (p.Trp2880Ter) c.8193G>A (p.Trp2731Ter) c.7530G>A (p.Trp2510Ter) c.12045G>A (p.Trp4015Ter) | ClinVar dbSNP COSMIC |
| 5 | g.13701333C>A | CA359192586 | DNAH5 | n.775G>T c.13442G>T (p.Trp4481Leu) c.13397G>T (p.Trp4466Leu) c.13550G>T (p.Trp4517Leu) c.13130G>T (p.Trp4377Leu) c.12455G>T (p.Trp4152Leu) c.8639G>T (p.Trp2880Leu) c.8192G>T (p.Trp2731Leu) c.7529G>T (p.Trp2510Leu) c.12044G>T (p.Trp4015Leu) | |
| 5 | g.13701333C>G | CA359192588 | DNAH5 | n.775G>C c.13442G>C (p.Trp4481Ser) c.13397G>C (p.Trp4466Ser) c.13550G>C (p.Trp4517Ser) c.13130G>C (p.Trp4377Ser) c.12455G>C (p.Trp4152Ser) c.8639G>C (p.Trp2880Ser) c.8192G>C (p.Trp2731Ser) c.7529G>C (p.Trp2510Ser) c.12044G>C (p.Trp4015Ser) | |
| 5 | g.13701333C>T | CA359192605 | DNAH5 | n.775G>A c.13442G>A (p.Trp4481Ter) c.13397G>A (p.Trp4466Ter) c.13550G>A (p.Trp4517Ter) c.13130G>A (p.Trp4377Ter) c.12455G>A (p.Trp4152Ter) c.8639G>A (p.Trp2880Ter) c.8192G>A (p.Trp2731Ter) c.7529G>A (p.Trp2510Ter) c.12044G>A (p.Trp4015Ter) | |
| 5 | g.13701334A>C | CA359192611 | DNAH5 | n.774T>G c.13441T>G (p.Trp4481Gly) c.13396T>G (p.Trp4466Gly) c.13549T>G (p.Trp4517Gly) c.13129T>G (p.Trp4377Gly) c.12454T>G (p.Trp4152Gly) c.8638T>G (p.Trp2880Gly) c.8191T>G (p.Trp2731Gly) c.7528T>G (p.Trp2510Gly) c.12043T>G (p.Trp4015Gly) | |
| 5 | g.13701334A>G | CA359192612 | DNAH5 | n.774T>C c.13441T>C (p.Trp4481Arg) c.13396T>C (p.Trp4466Arg) c.13549T>C (p.Trp4517Arg) c.13129T>C (p.Trp4377Arg) c.12454T>C (p.Trp4152Arg) c.8638T>C (p.Trp2880Arg) c.8191T>C (p.Trp2731Arg) c.7528T>C (p.Trp2510Arg) c.12043T>C (p.Trp4015Arg) | gnomAD v4 |
| 5 | g.13701334A>T | CA359192613 | DNAH5 | n.774T>A c.13441T>A (p.Trp4481Arg) c.13396T>A (p.Trp4466Arg) c.13549T>A (p.Trp4517Arg) c.13129T>A (p.Trp4377Arg) c.12454T>A (p.Trp4152Arg) c.8638T>A (p.Trp2880Arg) c.8191T>A (p.Trp2731Arg) c.7528T>A (p.Trp2510Arg) c.12043T>A (p.Trp4015Arg) | |
| 5 | g.13701335A>C | CA359192616 | DNAH5 | n.773T>G c.13440T>G (p.Phe4480Leu) c.13395T>G (p.Phe4465Leu) c.13548T>G (p.Phe4516Leu) c.13128T>G (p.Phe4376Leu) c.12453T>G (p.Phe4151Leu) c.8637T>G (p.Phe2879Leu) c.8190T>G (p.Phe2730Leu) c.7527T>G (p.Phe2509Leu) c.12042T>G (p.Phe4014Leu) | |
| 5 | g.13701335A>G | CA443250552 | DNAH5 | n.773T>C c.13440T>C (p.Phe4480=) c.13395T>C (p.Phe4465=) c.13548T>C (p.Phe4516=) c.13128T>C (p.Phe4376=) c.12453T>C (p.Phe4151=) c.8637T>C (p.Phe2879=) c.8190T>C (p.Phe2730=) c.7527T>C (p.Phe2509=) c.12042T>C (p.Phe4014=) | gnomAD v4 |
| 5 | g.13701335A>T | CA359192618 | DNAH5 | n.773T>A c.13440T>A (p.Phe4480Leu) c.13395T>A (p.Phe4465Leu) c.13548T>A (p.Phe4516Leu) c.13128T>A (p.Phe4376Leu) c.12453T>A (p.Phe4151Leu) c.8637T>A (p.Phe2879Leu) c.8190T>A (p.Phe2730Leu) c.7527T>A (p.Phe2509Leu) c.12042T>A (p.Phe4014Leu) | |
| 5 | g.13701336A= | CA1528399907 | DNAH5 | n.772T= c.13439T= (p.Phe4480=) c.13394T= (p.Phe4465=) c.13547T= (p.Phe4516=) c.13127T= (p.Phe4376=) c.12452T= (p.Phe4151=) c.8636T= (p.Phe2879=) c.8189T= (p.Phe2730=) c.7526T= (p.Phe2509=) c.12041T= (p.Phe4014=) | |
| 5 | g.13701336A>C | CA359192621 | DNAH5 | n.772T>G c.13439T>G (p.Phe4480Cys) c.13394T>G (p.Phe4465Cys) c.13547T>G (p.Phe4516Cys) c.13127T>G (p.Phe4376Cys) c.12452T>G (p.Phe4151Cys) c.8636T>G (p.Phe2879Cys) c.8189T>G (p.Phe2730Cys) c.7526T>G (p.Phe2509Cys) c.12041T>G (p.Phe4014Cys) | |
| 5 | g.13701336A>G | CA359192620 | DNAH5 | n.772T>C c.13439T>C (p.Phe4480Ser) c.13394T>C (p.Phe4465Ser) c.13547T>C (p.Phe4516Ser) c.13127T>C (p.Phe4376Ser) c.12452T>C (p.Phe4151Ser) c.8636T>C (p.Phe2879Ser) c.8189T>C (p.Phe2730Ser) c.7526T>C (p.Phe2509Ser) c.12041T>C (p.Phe4014Ser) | |
| 5 | g.13701336A>T | CA359192619 | DNAH5 | n.772T>A c.13439T>A (p.Phe4480Tyr) c.13394T>A (p.Phe4465Tyr) c.13547T>A (p.Phe4516Tyr) c.13127T>A (p.Phe4376Tyr) c.12452T>A (p.Phe4151Tyr) c.8636T>A (p.Phe2879Tyr) c.8189T>A (p.Phe2730Tyr) c.7526T>A (p.Phe2509Tyr) c.12041T>A (p.Phe4014Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13701337A>C | CA359192622 | DNAH5 | n.771T>G c.13438T>G (p.Phe4480Val) c.13393T>G (p.Phe4465Val) c.13546T>G (p.Phe4516Val) c.13126T>G (p.Phe4376Val) c.12451T>G (p.Phe4151Val) c.8635T>G (p.Phe2879Val) c.8188T>G (p.Phe2730Val) c.7525T>G (p.Phe2509Val) c.12040T>G (p.Phe4014Val) | |
| 5 | g.13701337A>G | CA359192625 | DNAH5 | n.771T>C c.13438T>C (p.Phe4480Leu) c.13393T>C (p.Phe4465Leu) c.13546T>C (p.Phe4516Leu) c.13126T>C (p.Phe4376Leu) c.12451T>C (p.Phe4151Leu) c.8635T>C (p.Phe2879Leu) c.8188T>C (p.Phe2730Leu) c.7525T>C (p.Phe2509Leu) c.12040T>C (p.Phe4014Leu) | |
| 5 | g.13701337A>T | CA359192629 | DNAH5 | n.771T>A c.13438T>A (p.Phe4480Ile) c.13393T>A (p.Phe4465Ile) c.13546T>A (p.Phe4516Ile) c.13126T>A (p.Phe4376Ile) c.12451T>A (p.Phe4151Ile) c.8635T>A (p.Phe2879Ile) c.8188T>A (p.Phe2730Ile) c.7525T>A (p.Phe2509Ile) c.12040T>A (p.Phe4014Ile) | |
| 5 | g.13701338G>A | CA3201367 | DNAH5 | n.770C>T c.13437C>T (p.Cys4479=) c.13392C>T (p.Cys4464=) c.13545C>T (p.Cys4515=) c.13125C>T (p.Cys4375=) c.12450C>T (p.Cys4150=) c.8634C>T (p.Cys2878=) c.8187C>T (p.Cys2729=) c.7524C>T (p.Cys2508=) c.12039C>T (p.Cys4013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701338G>C | CA359192633 | DNAH5 | n.770C>G c.13437C>G (p.Cys4479Trp) c.13392C>G (p.Cys4464Trp) c.13545C>G (p.Cys4515Trp) c.13125C>G (p.Cys4375Trp) c.12450C>G (p.Cys4150Trp) c.8634C>G (p.Cys2878Trp) c.8187C>G (p.Cys2729Trp) c.7524C>G (p.Cys2508Trp) c.12039C>G (p.Cys4013Trp) | |
| 5 | g.13701338G= | CA1528399908 | DNAH5 | n.770C= c.13437C= (p.Cys4479=) c.13392C= (p.Cys4464=) c.13545C= (p.Cys4515=) c.13125C= (p.Cys4375=) c.12450C= (p.Cys4150=) c.8634C= (p.Cys2878=) c.8187C= (p.Cys2729=) c.7524C= (p.Cys2508=) c.12039C= (p.Cys4013=) | |
| 5 | g.13701338G>T | CA359192634 | DNAH5 | n.770C>A c.13437C>A (p.Cys4479Ter) c.13392C>A (p.Cys4464Ter) c.13545C>A (p.Cys4515Ter) c.13125C>A (p.Cys4375Ter) c.12450C>A (p.Cys4150Ter) c.8634C>A (p.Cys2878Ter) c.8187C>A (p.Cys2729Ter) c.7524C>A (p.Cys2508Ter) c.12039C>A (p.Cys4013Ter) | |
| 5 | g.13701339C>A | CA359192636 | DNAH5 | n.769G>T c.13436G>T (p.Cys4479Phe) c.13391G>T (p.Cys4464Phe) c.13544G>T (p.Cys4515Phe) c.13124G>T (p.Cys4375Phe) c.12449G>T (p.Cys4150Phe) c.8633G>T (p.Cys2878Phe) c.8186G>T (p.Cys2729Phe) c.7523G>T (p.Cys2508Phe) c.12038G>T (p.Cys4013Phe) | |
| 5 | g.13701339C>G | CA359192638 | DNAH5 | n.769G>C c.13436G>C (p.Cys4479Ser) c.13391G>C (p.Cys4464Ser) c.13544G>C (p.Cys4515Ser) c.13124G>C (p.Cys4375Ser) c.12449G>C (p.Cys4150Ser) c.8633G>C (p.Cys2878Ser) c.8186G>C (p.Cys2729Ser) c.7523G>C (p.Cys2508Ser) c.12038G>C (p.Cys4013Ser) | |
| 5 | g.13701339C>T | CA359192639 | DNAH5 | n.769G>A c.13436G>A (p.Cys4479Tyr) c.13391G>A (p.Cys4464Tyr) c.13544G>A (p.Cys4515Tyr) c.13124G>A (p.Cys4375Tyr) c.12449G>A (p.Cys4150Tyr) c.8633G>A (p.Cys2878Tyr) c.8186G>A (p.Cys2729Tyr) c.7523G>A (p.Cys2508Tyr) c.12038G>A (p.Cys4013Tyr) | |
| 5 | g.13701339_13701343delinsCAGTG | CA1528399909 | DNAH5 | n.765_769delinsCACTG c.13432_13436delinsCACTG (p.His4478=) c.13387_13391delinsCACTG (p.His4463=) c.13540_13544delinsCACTG (p.His4514=) c.13120_13124delinsCACTG (p.His4374=) c.12445_12449delinsCACTG (p.His4149=) c.8629_8633delinsCACTG (p.His2877=) c.8182_8186delinsCACTG (p.His2728=) c.7519_7523delinsCACTG (p.His2507=) c.12034_12038delinsCACTG (p.His4012=) | |
| 5 | g.13701340A>C | CA359192646 | DNAH5 | n.768T>G c.13435T>G (p.Cys4479Gly) c.13390T>G (p.Cys4464Gly) c.13543T>G (p.Cys4515Gly) c.13123T>G (p.Cys4375Gly) c.12448T>G (p.Cys4150Gly) c.8632T>G (p.Cys2878Gly) c.8185T>G (p.Cys2729Gly) c.7522T>G (p.Cys2508Gly) c.12037T>G (p.Cys4013Gly) | |
| 5 | g.13701340A>G | CA359192647 | DNAH5 | n.768T>C c.13435T>C (p.Cys4479Arg) c.13390T>C (p.Cys4464Arg) c.13543T>C (p.Cys4515Arg) c.13123T>C (p.Cys4375Arg) c.12448T>C (p.Cys4150Arg) c.8632T>C (p.Cys2878Arg) c.8185T>C (p.Cys2729Arg) c.7522T>C (p.Cys2508Arg) c.12037T>C (p.Cys4013Arg) | gnomAD v4 |
| 5 | g.13701340A>T | CA359192648 | DNAH5 | n.768T>A c.13435T>A (p.Cys4479Ser) c.13390T>A (p.Cys4464Ser) c.13543T>A (p.Cys4515Ser) c.13123T>A (p.Cys4375Ser) c.12448T>A (p.Cys4150Ser) c.8632T>A (p.Cys2878Ser) c.8185T>A (p.Cys2729Ser) c.7522T>A (p.Cys2508Ser) c.12037T>A (p.Cys4013Ser) | |
| 5 | g.13701342_13701345del | CA3201368 | DNAH5 | n.765_768del c.13432_13435del (p.His4478AlafsTer4) c.13387_13390del (p.His4463AlafsTer4) c.13540_13543del (p.His4514AlafsTer4) c.13120_13123del (p.His4374AlafsTer4) c.12445_12448del (p.His4149AlafsTer4) c.8629_8632del (p.His2877AlafsTer4) c.8182_8185del (p.His2728AlafsTer4) c.7519_7522del (p.His2507AlafsTer4) c.12034_12037del (p.His4012AlafsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701341G>A | CA443250559 | DNAH5 | n.767C>T c.13434C>T (p.His4478=) c.13389C>T (p.His4463=) c.13542C>T (p.His4514=) c.13122C>T (p.His4374=) c.12447C>T (p.His4149=) c.8631C>T (p.His2877=) c.8184C>T (p.His2728=) c.7521C>T (p.His2507=) c.12036C>T (p.His4012=) | |
| 5 | g.13701341G>C | CA359192655 | DNAH5 | n.767C>G c.13434C>G (p.His4478Gln) c.13389C>G (p.His4463Gln) c.13542C>G (p.His4514Gln) c.13122C>G (p.His4374Gln) c.12447C>G (p.His4149Gln) c.8631C>G (p.His2877Gln) c.8184C>G (p.His2728Gln) c.7521C>G (p.His2507Gln) c.12036C>G (p.His4012Gln) | |
| 5 | g.13701341G>T | CA359192662 | DNAH5 | n.767C>A c.13434C>A (p.His4478Gln) c.13389C>A (p.His4463Gln) c.13542C>A (p.His4514Gln) c.13122C>A (p.His4374Gln) c.12447C>A (p.His4149Gln) c.8631C>A (p.His2877Gln) c.8184C>A (p.His2728Gln) c.7521C>A (p.His2507Gln) c.12036C>A (p.His4012Gln) | |
| 5 | g.13701342T>A | CA359192666 | DNAH5 | n.766A>T c.13433A>T (p.His4478Leu) c.13388A>T (p.His4463Leu) c.13541A>T (p.His4514Leu) c.13121A>T (p.His4374Leu) c.12446A>T (p.His4149Leu) c.8630A>T (p.His2877Leu) c.8183A>T (p.His2728Leu) c.7520A>T (p.His2507Leu) c.12035A>T (p.His4012Leu) | |
| 5 | g.13701342T>C | CA359192671 | DNAH5 | n.766A>G c.13433A>G (p.His4478Arg) c.13388A>G (p.His4463Arg) c.13541A>G (p.His4514Arg) c.13121A>G (p.His4374Arg) c.12446A>G (p.His4149Arg) c.8630A>G (p.His2877Arg) c.8183A>G (p.His2728Arg) c.7520A>G (p.His2507Arg) c.12035A>G (p.His4012Arg) | |
| 5 | g.13701342T>G | CA359192687 | DNAH5 | n.766A>C c.13433A>C (p.His4478Pro) c.13388A>C (p.His4463Pro) c.13541A>C (p.His4514Pro) c.13121A>C (p.His4374Pro) c.12446A>C (p.His4149Pro) c.8630A>C (p.His2877Pro) c.8183A>C (p.His2728Pro) c.7520A>C (p.His2507Pro) c.12035A>C (p.His4012Pro) | |
| 5 | g.13701343G>A | CA359192698 | DNAH5 | n.765C>T c.13432C>T (p.His4478Tyr) c.13387C>T (p.His4463Tyr) c.13540C>T (p.His4514Tyr) c.13120C>T (p.His4374Tyr) c.12445C>T (p.His4149Tyr) c.8629C>T (p.His2877Tyr) c.8182C>T (p.His2728Tyr) c.7519C>T (p.His2507Tyr) c.12034C>T (p.His4012Tyr) | |
| 5 | g.13701343G>C | CA359192711 | DNAH5 | n.765C>G c.13432C>G (p.His4478Asp) c.13387C>G (p.His4463Asp) c.13540C>G (p.His4514Asp) c.13120C>G (p.His4374Asp) c.12445C>G (p.His4149Asp) c.8629C>G (p.His2877Asp) c.8182C>G (p.His2728Asp) c.7519C>G (p.His2507Asp) c.12034C>G (p.His4012Asp) | |
| 5 | g.13701343G>T | CA359192727 | DNAH5 | n.765C>A c.13432C>A (p.His4478Asn) c.13387C>A (p.His4463Asn) c.13540C>A (p.His4514Asn) c.13120C>A (p.His4374Asn) c.12445C>A (p.His4149Asn) c.8629C>A (p.His2877Asn) c.8182C>A (p.His2728Asn) c.7519C>A (p.His2507Asn) c.12034C>A (p.His4012Asn) | |
| 5 | g.13701344A>C | CA443250560 | DNAH5 | n.764T>G c.13431T>G (p.Pro4477=) c.13386T>G (p.Pro4462=) c.13539T>G (p.Pro4513=) c.13119T>G (p.Pro4373=) c.12444T>G (p.Pro4148=) c.8628T>G (p.Pro2876=) c.8181T>G (p.Pro2727=) c.7518T>G (p.Pro2506=) c.12033T>G (p.Pro4011=) | |
| 5 | g.13701344A>G | CA443250561 | DNAH5 | n.764T>C c.13431T>C (p.Pro4477=) c.13386T>C (p.Pro4462=) c.13539T>C (p.Pro4513=) c.13119T>C (p.Pro4373=) c.12444T>C (p.Pro4148=) c.8628T>C (p.Pro2876=) c.8181T>C (p.Pro2727=) c.7518T>C (p.Pro2506=) c.12033T>C (p.Pro4011=) | |
| 5 | g.13701344A>T | CA443250562 | DNAH5 | n.764T>A c.13431T>A (p.Pro4477=) c.13386T>A (p.Pro4462=) c.13539T>A (p.Pro4513=) c.13119T>A (p.Pro4373=) c.12444T>A (p.Pro4148=) c.8628T>A (p.Pro2876=) c.8181T>A (p.Pro2727=) c.7518T>A (p.Pro2506=) c.12033T>A (p.Pro4011=) | |
| 5 | g.13701345G>A | CA359192733 | DNAH5 | n.763C>T c.13430C>T (p.Pro4477Leu) c.13385C>T (p.Pro4462Leu) c.13538C>T (p.Pro4513Leu) c.13118C>T (p.Pro4373Leu) c.12443C>T (p.Pro4148Leu) c.8627C>T (p.Pro2876Leu) c.8180C>T (p.Pro2727Leu) c.7517C>T (p.Pro2506Leu) c.12032C>T (p.Pro4011Leu) | dbSNP gnomAD v2 |
| 5 | g.13701345G>C | CA359192735 | DNAH5 | n.763C>G c.13430C>G (p.Pro4477Arg) c.13385C>G (p.Pro4462Arg) c.13538C>G (p.Pro4513Arg) c.13118C>G (p.Pro4373Arg) c.12443C>G (p.Pro4148Arg) c.8627C>G (p.Pro2876Arg) c.8180C>G (p.Pro2727Arg) c.7517C>G (p.Pro2506Arg) c.12032C>G (p.Pro4011Arg) | |
| 5 | g.13701345G= | CA1528399910 | DNAH5 | n.763C= c.13430C= (p.Pro4477=) c.13385C= (p.Pro4462=) c.13538C= (p.Pro4513=) c.13118C= (p.Pro4373=) c.12443C= (p.Pro4148=) c.8627C= (p.Pro2876=) c.8180C= (p.Pro2727=) c.7517C= (p.Pro2506=) c.12032C= (p.Pro4011=) | |
| 5 | g.13701345G>T | CA359192739 | DNAH5 | n.763C>A c.13430C>A (p.Pro4477His) c.13385C>A (p.Pro4462His) c.13538C>A (p.Pro4513His) c.13118C>A (p.Pro4373His) c.12443C>A (p.Pro4148His) c.8627C>A (p.Pro2876His) c.8180C>A (p.Pro2727His) c.7517C>A (p.Pro2506His) c.12032C>A (p.Pro4011His) | |
| 5 | g.13701346G>A | CA359192746 | DNAH5 | n.762C>T c.13429C>T (p.Pro4477Ser) c.13384C>T (p.Pro4462Ser) c.13537C>T (p.Pro4513Ser) c.13117C>T (p.Pro4373Ser) c.12442C>T (p.Pro4148Ser) c.8626C>T (p.Pro2876Ser) c.8179C>T (p.Pro2727Ser) c.7516C>T (p.Pro2506Ser) c.12031C>T (p.Pro4011Ser) | |
| 5 | g.13701346G>C | CA359192757 | DNAH5 | n.762C>G c.13429C>G (p.Pro4477Ala) c.13384C>G (p.Pro4462Ala) c.13537C>G (p.Pro4513Ala) c.13117C>G (p.Pro4373Ala) c.12442C>G (p.Pro4148Ala) c.8626C>G (p.Pro2876Ala) c.8179C>G (p.Pro2727Ala) c.7516C>G (p.Pro2506Ala) c.12031C>G (p.Pro4011Ala) | |
| 5 | g.13701346G>T | CA359192761 | DNAH5 | n.762C>A c.13429C>A (p.Pro4477Thr) c.13384C>A (p.Pro4462Thr) c.13537C>A (p.Pro4513Thr) c.13117C>A (p.Pro4373Thr) c.12442C>A (p.Pro4148Thr) c.8626C>A (p.Pro2876Thr) c.8179C>A (p.Pro2727Thr) c.7516C>A (p.Pro2506Thr) c.12031C>A (p.Pro4011Thr) | |
| 5 | g.13701347del | CA2592495797 | DNAH5 | n.761del c.13428del (p.Pro4477LeufsTer6) c.13383del (p.Pro4462LeufsTer6) c.13536del (p.Pro4513LeufsTer6) c.13116del (p.Pro4373LeufsTer6) c.12441del (p.Pro4148LeufsTer6) c.8625del (p.Pro2876LeufsTer6) c.8178del (p.Pro2727LeufsTer6) c.7515del (p.Pro2506LeufsTer6) c.12030del (p.Pro4011LeufsTer6) | gnomAD v3 gnomAD v4 |
| 5 | g.13701347T>A | CA443250564 | DNAH5 | n.761A>T c.13428A>T (p.Arg4476=) c.13383A>T (p.Arg4461=) c.13536A>T (p.Arg4512=) c.13116A>T (p.Arg4372=) c.12441A>T (p.Arg4147=) c.8625A>T (p.Arg2875=) c.8178A>T (p.Arg2726=) c.7515A>T (p.Arg2505=) c.12030A>T (p.Arg4010=) | |
| 5 | g.13701347T>C | CA443250565 | DNAH5 | n.761A>G c.13428A>G (p.Arg4476=) c.13383A>G (p.Arg4461=) c.13536A>G (p.Arg4512=) c.13116A>G (p.Arg4372=) c.12441A>G (p.Arg4147=) c.8625A>G (p.Arg2875=) c.8178A>G (p.Arg2726=) c.7515A>G (p.Arg2505=) c.12030A>G (p.Arg4010=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13701347T>G | CA443250566 | DNAH5 | n.761A>C c.13428A>C (p.Arg4476=) c.13383A>C (p.Arg4461=) c.13536A>C (p.Arg4512=) c.13116A>C (p.Arg4372=) c.12441A>C (p.Arg4147=) c.8625A>C (p.Arg2875=) c.8178A>C (p.Arg2726=) c.7515A>C (p.Arg2505=) c.12030A>C (p.Arg4010=) | |
| 5 | g.13701347T= | CA1528399911 | DNAH5 | n.761A= c.13428A= (p.Arg4476=) c.13383A= (p.Arg4461=) c.13536A= (p.Arg4512=) c.13116A= (p.Arg4372=) c.12441A= (p.Arg4147=) c.8625A= (p.Arg2875=) c.8178A= (p.Arg2726=) c.7515A= (p.Arg2505=) c.12030A= (p.Arg4010=) | |
| 5 | g.13701348C>A | CA359192768 | DNAH5 | n.760G>T c.13427G>T (p.Arg4476Leu) c.13382G>T (p.Arg4461Leu) c.13535G>T (p.Arg4512Leu) c.13115G>T (p.Arg4372Leu) c.12440G>T (p.Arg4147Leu) c.8624G>T (p.Arg2875Leu) c.8177G>T (p.Arg2726Leu) c.7514G>T (p.Arg2505Leu) c.12029G>T (p.Arg4010Leu) | |
| 5 | g.13701348C= | CA1528399912 | DNAH5 | n.760G= c.13427G= (p.Arg4476=) c.13382G= (p.Arg4461=) c.13535G= (p.Arg4512=) c.13115G= (p.Arg4372=) c.12440G= (p.Arg4147=) c.8624G= (p.Arg2875=) c.8177G= (p.Arg2726=) c.7514G= (p.Arg2505=) c.12029G= (p.Arg4010=) | |
| 5 | g.13701348C>G | CA359192772 | DNAH5 | n.760G>C c.13427G>C (p.Arg4476Pro) c.13382G>C (p.Arg4461Pro) c.13535G>C (p.Arg4512Pro) c.13115G>C (p.Arg4372Pro) c.12440G>C (p.Arg4147Pro) c.8624G>C (p.Arg2875Pro) c.8177G>C (p.Arg2726Pro) c.7514G>C (p.Arg2505Pro) c.12029G>C (p.Arg4010Pro) | dbSNP |
| 5 | g.13701348C>T | CA3201369 | DNAH5 | n.760G>A c.13427G>A (p.Arg4476Gln) c.13382G>A (p.Arg4461Gln) c.13535G>A (p.Arg4512Gln) c.13115G>A (p.Arg4372Gln) c.12440G>A (p.Arg4147Gln) c.8624G>A (p.Arg2875Gln) c.8177G>A (p.Arg2726Gln) c.7514G>A (p.Arg2505Gln) c.12029G>A (p.Arg4010Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701349G>A | CA3201370 | DNAH5 | n.759C>T c.13426C>T (p.Arg4476Ter) c.13381C>T (p.Arg4461Ter) c.13534C>T (p.Arg4512Ter) c.13114C>T (p.Arg4372Ter) c.12439C>T (p.Arg4147Ter) c.8623C>T (p.Arg2875Ter) c.8176C>T (p.Arg2726Ter) c.7513C>T (p.Arg2505Ter) c.12028C>T (p.Arg4010Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701349G>C | CA359192789 | DNAH5 | n.759C>G c.13426C>G (p.Arg4476Gly) c.13381C>G (p.Arg4461Gly) c.13534C>G (p.Arg4512Gly) c.13114C>G (p.Arg4372Gly) c.12439C>G (p.Arg4147Gly) c.8623C>G (p.Arg2875Gly) c.8176C>G (p.Arg2726Gly) c.7513C>G (p.Arg2505Gly) c.12028C>G (p.Arg4010Gly) | |
| 5 | g.13701349G= | CA1528399913 | DNAH5 | n.759C= c.13426C= (p.Arg4476=) c.13381C= (p.Arg4461=) c.13534C= (p.Arg4512=) c.13114C= (p.Arg4372=) c.12439C= (p.Arg4147=) c.8623C= (p.Arg2875=) c.8176C= (p.Arg2726=) c.7513C= (p.Arg2505=) c.12028C= (p.Arg4010=) | |
| 5 | g.13701349G>T | CA443250567 | DNAH5 | n.759C>A c.13426C>A (p.Arg4476=) c.13381C>A (p.Arg4461=) c.13534C>A (p.Arg4512=) c.13114C>A (p.Arg4372=) c.12439C>A (p.Arg4147=) c.8623C>A (p.Arg2875=) c.8176C>A (p.Arg2726=) c.7513C>A (p.Arg2505=) c.12028C>A (p.Arg4010=) | |
| 5 | g.13701350G>A | CA443250570 | DNAH5 | n.758C>T c.13425C>T (p.Gly4475=) c.13380C>T (p.Gly4460=) c.13533C>T (p.Gly4511=) c.13113C>T (p.Gly4371=) c.12438C>T (p.Gly4146=) c.8622C>T (p.Gly2874=) c.8175C>T (p.Gly2725=) c.7512C>T (p.Gly2504=) c.12027C>T (p.Gly4009=) | |
| 5 | g.13701350G>C | CA443250569 | DNAH5 | n.758C>G c.13425C>G (p.Gly4475=) c.13380C>G (p.Gly4460=) c.13533C>G (p.Gly4511=) c.13113C>G (p.Gly4371=) c.12438C>G (p.Gly4146=) c.8622C>G (p.Gly2874=) c.8175C>G (p.Gly2725=) c.7512C>G (p.Gly2504=) c.12027C>G (p.Gly4009=) | |
| 5 | g.13701350G>T | CA443250568 | DNAH5 | n.758C>A c.13425C>A (p.Gly4475=) c.13380C>A (p.Gly4460=) c.13533C>A (p.Gly4511=) c.13113C>A (p.Gly4371=) c.12438C>A (p.Gly4146=) c.8622C>A (p.Gly2874=) c.8175C>A (p.Gly2725=) c.7512C>A (p.Gly2504=) c.12027C>A (p.Gly4009=) | COSMIC |
| 5 | g.13701351C>A | CA359192799 | DNAH5 | n.757G>T c.13424G>T (p.Gly4475Val) c.13379G>T (p.Gly4460Val) c.13532G>T (p.Gly4511Val) c.13112G>T (p.Gly4371Val) c.12437G>T (p.Gly4146Val) c.8621G>T (p.Gly2874Val) c.8174G>T (p.Gly2725Val) c.7511G>T (p.Gly2504Val) c.12026G>T (p.Gly4009Val) | |
| 5 | g.13701351C= | CA1528399914 | DNAH5 | n.757G= c.13424G= (p.Gly4475=) c.13379G= (p.Gly4460=) c.13532G= (p.Gly4511=) c.13112G= (p.Gly4371=) c.12437G= (p.Gly4146=) c.8621G= (p.Gly2874=) c.8174G= (p.Gly2725=) c.7511G= (p.Gly2504=) c.12026G= (p.Gly4009=) | |
| 5 | g.13701351C>G | CA359192802 | DNAH5 | n.757G>C c.13424G>C (p.Gly4475Ala) c.13379G>C (p.Gly4460Ala) c.13532G>C (p.Gly4511Ala) c.13112G>C (p.Gly4371Ala) c.12437G>C (p.Gly4146Ala) c.8621G>C (p.Gly2874Ala) c.8174G>C (p.Gly2725Ala) c.7511G>C (p.Gly2504Ala) c.12026G>C (p.Gly4009Ala) | |
| 5 | g.13701351C>T | CA359192805 | DNAH5 | n.757G>A c.13424G>A (p.Gly4475Asp) c.13379G>A (p.Gly4460Asp) c.13532G>A (p.Gly4511Asp) c.13112G>A (p.Gly4371Asp) c.12437G>A (p.Gly4146Asp) c.8621G>A (p.Gly2874Asp) c.8174G>A (p.Gly2725Asp) c.7511G>A (p.Gly2504Asp) c.12026G>A (p.Gly4009Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13701352C>A | CA359192810 | DNAH5 | n.756G>T c.13423G>T (p.Gly4475Cys) c.13378G>T (p.Gly4460Cys) c.13531G>T (p.Gly4511Cys) c.13111G>T (p.Gly4371Cys) c.12436G>T (p.Gly4146Cys) c.8620G>T (p.Gly2874Cys) c.8173G>T (p.Gly2725Cys) c.7510G>T (p.Gly2504Cys) c.12025G>T (p.Gly4009Cys) | |
| 5 | g.13701352C>G | CA359192808 | DNAH5 | n.756G>C c.13423G>C (p.Gly4475Arg) c.13378G>C (p.Gly4460Arg) c.13531G>C (p.Gly4511Arg) c.13111G>C (p.Gly4371Arg) c.12436G>C (p.Gly4146Arg) c.8620G>C (p.Gly2874Arg) c.8173G>C (p.Gly2725Arg) c.7510G>C (p.Gly2504Arg) c.12025G>C (p.Gly4009Arg) | |
| 5 | g.13701352C>T | CA359192809 | DNAH5 | n.756G>A c.13423G>A (p.Gly4475Ser) c.13378G>A (p.Gly4460Ser) c.13531G>A (p.Gly4511Ser) c.13111G>A (p.Gly4371Ser) c.12436G>A (p.Gly4146Ser) c.8620G>A (p.Gly2874Ser) c.8173G>A (p.Gly2725Ser) c.7510G>A (p.Gly2504Ser) c.12025G>A (p.Gly4009Ser) | |
| 5 | g.13701353A>C | CA359192811 | DNAH5 | n.755T>G c.13422T>G (p.Asn4474Lys) c.13377T>G (p.Asn4459Lys) c.13530T>G (p.Asn4510Lys) c.13110T>G (p.Asn4370Lys) c.12435T>G (p.Asn4145Lys) c.8619T>G (p.Asn2873Lys) c.8172T>G (p.Asn2724Lys) c.7509T>G (p.Asn2503Lys) c.12024T>G (p.Asn4008Lys) | |
| 5 | g.13701353A>G | CA443250571 | DNAH5 | n.755T>C c.13422T>C (p.Asn4474=) c.13377T>C (p.Asn4459=) c.13530T>C (p.Asn4510=) c.13110T>C (p.Asn4370=) c.12435T>C (p.Asn4145=) c.8619T>C (p.Asn2873=) c.8172T>C (p.Asn2724=) c.7509T>C (p.Asn2503=) c.12024T>C (p.Asn4008=) | gnomAD v4 |
| 5 | g.13701353A>T | CA359192812 | DNAH5 | n.755T>A c.13422T>A (p.Asn4474Lys) c.13377T>A (p.Asn4459Lys) c.13530T>A (p.Asn4510Lys) c.13110T>A (p.Asn4370Lys) c.12435T>A (p.Asn4145Lys) c.8619T>A (p.Asn2873Lys) c.8172T>A (p.Asn2724Lys) c.7509T>A (p.Asn2503Lys) c.12024T>A (p.Asn4008Lys) | |
| 5 | g.13701354T>A | CA359192813 | DNAH5 | n.754A>T c.13421A>T (p.Asn4474Ile) c.13376A>T (p.Asn4459Ile) c.13529A>T (p.Asn4510Ile) c.13109A>T (p.Asn4370Ile) c.12434A>T (p.Asn4145Ile) c.8618A>T (p.Asn2873Ile) c.8171A>T (p.Asn2724Ile) c.7508A>T (p.Asn2503Ile) c.12023A>T (p.Asn4008Ile) | |
| 5 | g.13701354T>C | CA359192814 | DNAH5 | n.754A>G c.13421A>G (p.Asn4474Ser) c.13376A>G (p.Asn4459Ser) c.13529A>G (p.Asn4510Ser) c.13109A>G (p.Asn4370Ser) c.12434A>G (p.Asn4145Ser) c.8618A>G (p.Asn2873Ser) c.8171A>G (p.Asn2724Ser) c.7508A>G (p.Asn2503Ser) c.12023A>G (p.Asn4008Ser) | gnomAD v4 |
| 5 | g.13701354T>G | CA359192818 | DNAH5 | n.754A>C c.13421A>C (p.Asn4474Thr) c.13376A>C (p.Asn4459Thr) c.13529A>C (p.Asn4510Thr) c.13109A>C (p.Asn4370Thr) c.12434A>C (p.Asn4145Thr) c.8618A>C (p.Asn2873Thr) c.8171A>C (p.Asn2724Thr) c.7508A>C (p.Asn2503Thr) c.12023A>C (p.Asn4008Thr) | |
| 5 | g.13701355T>A | CA359192823 | DNAH5 | n.753A>T c.13420A>T (p.Asn4474Tyr) c.13375A>T (p.Asn4459Tyr) c.13528A>T (p.Asn4510Tyr) c.13108A>T (p.Asn4370Tyr) c.12433A>T (p.Asn4145Tyr) c.8617A>T (p.Asn2873Tyr) c.8170A>T (p.Asn2724Tyr) c.7507A>T (p.Asn2503Tyr) c.12022A>T (p.Asn4008Tyr) | |
| 5 | g.13701355T>C | CA359192827 | DNAH5 | n.753A>G c.13420A>G (p.Asn4474Asp) c.13375A>G (p.Asn4459Asp) c.13528A>G (p.Asn4510Asp) c.13108A>G (p.Asn4370Asp) c.12433A>G (p.Asn4145Asp) c.8617A>G (p.Asn2873Asp) c.8170A>G (p.Asn2724Asp) c.7507A>G (p.Asn2503Asp) c.12022A>G (p.Asn4008Asp) | gnomAD v4 |
| 5 | g.13701355T>G | CA359192825 | DNAH5 | n.753A>C c.13420A>C (p.Asn4474His) c.13375A>C (p.Asn4459His) c.13528A>C (p.Asn4510His) c.13108A>C (p.Asn4370His) c.12433A>C (p.Asn4145His) c.8617A>C (p.Asn2873His) c.8170A>C (p.Asn2724His) c.7507A>C (p.Asn2503His) c.12022A>C (p.Asn4008His) | |
| 5 | g.13701356G>A | CA443250572 | DNAH5 | n.752C>T c.13419C>T (p.Phe4473=) c.13374C>T (p.Phe4458=) c.13527C>T (p.Phe4509=) c.13107C>T (p.Phe4369=) c.12432C>T (p.Phe4144=) c.8616C>T (p.Phe2872=) c.8169C>T (p.Phe2723=) c.7506C>T (p.Phe2502=) c.12021C>T (p.Phe4007=) | gnomAD v4 COSMIC |
| 5 | g.13701356G>C | CA359192832 | DNAH5 | n.752C>G c.13419C>G (p.Phe4473Leu) c.13374C>G (p.Phe4458Leu) c.13527C>G (p.Phe4509Leu) c.13107C>G (p.Phe4369Leu) c.12432C>G (p.Phe4144Leu) c.8616C>G (p.Phe2872Leu) c.8169C>G (p.Phe2723Leu) c.7506C>G (p.Phe2502Leu) c.12021C>G (p.Phe4007Leu) | |
| 5 | g.13701356G>T | CA359192834 | DNAH5 | n.752C>A c.13419C>A (p.Phe4473Leu) c.13374C>A (p.Phe4458Leu) c.13527C>A (p.Phe4509Leu) c.13107C>A (p.Phe4369Leu) c.12432C>A (p.Phe4144Leu) c.8616C>A (p.Phe2872Leu) c.8169C>A (p.Phe2723Leu) c.7506C>A (p.Phe2502Leu) c.12021C>A (p.Phe4007Leu) | |
| 5 | g.13701357A>C | CA359192839 | DNAH5 | n.751T>G c.13418T>G (p.Phe4473Cys) c.13373T>G (p.Phe4458Cys) c.13526T>G (p.Phe4509Cys) c.13106T>G (p.Phe4369Cys) c.12431T>G (p.Phe4144Cys) c.8615T>G (p.Phe2872Cys) c.8168T>G (p.Phe2723Cys) c.7505T>G (p.Phe2502Cys) c.12020T>G (p.Phe4007Cys) | |
| 5 | g.13701357A>G | CA359192843 | DNAH5 | n.751T>C c.13418T>C (p.Phe4473Ser) c.13373T>C (p.Phe4458Ser) c.13526T>C (p.Phe4509Ser) c.13106T>C (p.Phe4369Ser) c.12431T>C (p.Phe4144Ser) c.8615T>C (p.Phe2872Ser) c.8168T>C (p.Phe2723Ser) c.7505T>C (p.Phe2502Ser) c.12020T>C (p.Phe4007Ser) | gnomAD v4 |
| 5 | g.13701357A>T | CA359192841 | DNAH5 | n.751T>A c.13418T>A (p.Phe4473Tyr) c.13373T>A (p.Phe4458Tyr) c.13526T>A (p.Phe4509Tyr) c.13106T>A (p.Phe4369Tyr) c.12431T>A (p.Phe4144Tyr) c.8615T>A (p.Phe2872Tyr) c.8168T>A (p.Phe2723Tyr) c.7505T>A (p.Phe2502Tyr) c.12020T>A (p.Phe4007Tyr) | |
| 5 | g.13701358A>C | CA359192846 | DNAH5 | n.750T>G c.13417T>G (p.Phe4473Val) c.13372T>G (p.Phe4458Val) c.13525T>G (p.Phe4509Val) c.13105T>G (p.Phe4369Val) c.12430T>G (p.Phe4144Val) c.8614T>G (p.Phe2872Val) c.8167T>G (p.Phe2723Val) c.7504T>G (p.Phe2502Val) c.12019T>G (p.Phe4007Val) | |
| 5 | g.13701358A>G | CA359192848 | DNAH5 | n.750T>C c.13417T>C (p.Phe4473Leu) c.13372T>C (p.Phe4458Leu) c.13525T>C (p.Phe4509Leu) c.13105T>C (p.Phe4369Leu) c.12430T>C (p.Phe4144Leu) c.8614T>C (p.Phe2872Leu) c.8167T>C (p.Phe2723Leu) c.7504T>C (p.Phe2502Leu) c.12019T>C (p.Phe4007Leu) | |
| 5 | g.13701358A>T | CA359192853 | DNAH5 | n.750T>A c.13417T>A (p.Phe4473Ile) c.13372T>A (p.Phe4458Ile) c.13525T>A (p.Phe4509Ile) c.13105T>A (p.Phe4369Ile) c.12430T>A (p.Phe4144Ile) c.8614T>A (p.Phe2872Ile) c.8167T>A (p.Phe2723Ile) c.7504T>A (p.Phe2502Ile) c.12019T>A (p.Phe4007Ile) | |
| 5 | g.13701359A= | CA1528399915 | DNAH5 | n.749T= c.13416T= (p.Val4472=) c.13371T= (p.Val4457=) c.13524T= (p.Val4508=) c.13104T= (p.Val4368=) c.12429T= (p.Val4143=) c.8613T= (p.Val2871=) c.8166T= (p.Val2722=) c.7503T= (p.Val2501=) c.12018T= (p.Val4006=) | |
| 5 | g.13701359A>C | CA443250573 | DNAH5 | n.749T>G c.13416T>G (p.Val4472=) c.13371T>G (p.Val4457=) c.13524T>G (p.Val4508=) c.13104T>G (p.Val4368=) c.12429T>G (p.Val4143=) c.8613T>G (p.Val2871=) c.8166T>G (p.Val2722=) c.7503T>G (p.Val2501=) c.12018T>G (p.Val4006=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701359A>G | CA443250574 | DNAH5 | n.749T>C c.13416T>C (p.Val4472=) c.13371T>C (p.Val4457=) c.13524T>C (p.Val4508=) c.13104T>C (p.Val4368=) c.12429T>C (p.Val4143=) c.8613T>C (p.Val2871=) c.8166T>C (p.Val2722=) c.7503T>C (p.Val2501=) c.12018T>C (p.Val4006=) | |
| 5 | g.13701359A>T | CA443250575 | DNAH5 | n.749T>A c.13416T>A (p.Val4472=) c.13371T>A (p.Val4457=) c.13524T>A (p.Val4508=) c.13104T>A (p.Val4368=) c.12429T>A (p.Val4143=) c.8613T>A (p.Val2871=) c.8166T>A (p.Val2722=) c.7503T>A (p.Val2501=) c.12018T>A (p.Val4006=) | |
| 5 | g.13701360A>C | CA359192857 | DNAH5 | n.748T>G c.13415T>G (p.Val4472Gly) c.13370T>G (p.Val4457Gly) c.13523T>G (p.Val4508Gly) c.13103T>G (p.Val4368Gly) c.12428T>G (p.Val4143Gly) c.8612T>G (p.Val2871Gly) c.8165T>G (p.Val2722Gly) c.7502T>G (p.Val2501Gly) c.12017T>G (p.Val4006Gly) | |
| 5 | g.13701360A>G | CA359192862 | DNAH5 | n.748T>C c.13415T>C (p.Val4472Ala) c.13370T>C (p.Val4457Ala) c.13523T>C (p.Val4508Ala) c.13103T>C (p.Val4368Ala) c.12428T>C (p.Val4143Ala) c.8612T>C (p.Val2871Ala) c.8165T>C (p.Val2722Ala) c.7502T>C (p.Val2501Ala) c.12017T>C (p.Val4006Ala) | |
| 5 | g.13701360A>T | CA359192868 | DNAH5 | n.748T>A c.13415T>A (p.Val4472Asp) c.13370T>A (p.Val4457Asp) c.13523T>A (p.Val4508Asp) c.13103T>A (p.Val4368Asp) c.12428T>A (p.Val4143Asp) c.8612T>A (p.Val2871Asp) c.8165T>A (p.Val2722Asp) c.7502T>A (p.Val2501Asp) c.12017T>A (p.Val4006Asp) | |
| 5 | g.13701361C>A | CA3201371 | DNAH5 | n.747G>T c.13414G>T (p.Val4472Phe) c.13369G>T (p.Val4457Phe) c.13522G>T (p.Val4508Phe) c.13102G>T (p.Val4368Phe) c.12427G>T (p.Val4143Phe) c.8611G>T (p.Val2871Phe) c.8164G>T (p.Val2722Phe) c.7501G>T (p.Val2501Phe) c.12016G>T (p.Val4006Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701361C= | CA1528399916 | DNAH5 | n.747G= c.13414G= (p.Val4472=) c.13369G= (p.Val4457=) c.13522G= (p.Val4508=) c.13102G= (p.Val4368=) c.12427G= (p.Val4143=) c.8611G= (p.Val2871=) c.8164G= (p.Val2722=) c.7501G= (p.Val2501=) c.12016G= (p.Val4006=) | |
| 5 | g.13701361C>G | CA359192877 | DNAH5 | n.747G>C c.13414G>C (p.Val4472Leu) c.13369G>C (p.Val4457Leu) c.13522G>C (p.Val4508Leu) c.13102G>C (p.Val4368Leu) c.12427G>C (p.Val4143Leu) c.8611G>C (p.Val2871Leu) c.8164G>C (p.Val2722Leu) c.7501G>C (p.Val2501Leu) c.12016G>C (p.Val4006Leu) | |
| 5 | g.13701361C>T | CA359192884 | DNAH5 | n.747G>A c.13414G>A (p.Val4472Ile) c.13369G>A (p.Val4457Ile) c.13522G>A (p.Val4508Ile) c.13102G>A (p.Val4368Ile) c.12427G>A (p.Val4143Ile) c.8611G>A (p.Val2871Ile) c.8164G>A (p.Val2722Ile) c.7501G>A (p.Val2501Ile) c.12016G>A (p.Val4006Ile) | |
| 5 | g.13701362C>A | CA359192889 | DNAH5 | n.746G>T c.13413G>T (p.Trp4471Cys) c.13368G>T (p.Trp4456Cys) c.13521G>T (p.Trp4507Cys) c.13101G>T (p.Trp4367Cys) c.12426G>T (p.Trp4142Cys) c.8610G>T (p.Trp2870Cys) c.8163G>T (p.Trp2721Cys) c.7500G>T (p.Trp2500Cys) c.12015G>T (p.Trp4005Cys) | |
| 5 | g.13701362C= | CA1528399917 | DNAH5 | n.746G= c.13413G= (p.Trp4471=) c.13368G= (p.Trp4456=) c.13521G= (p.Trp4507=) c.13101G= (p.Trp4367=) c.12426G= (p.Trp4142=) c.8610G= (p.Trp2870=) c.8163G= (p.Trp2721=) c.7500G= (p.Trp2500=) c.12015G= (p.Trp4005=) | |
| 5 | g.13701362C>G | CA359192895 | DNAH5 | n.746G>C c.13413G>C (p.Trp4471Cys) c.13368G>C (p.Trp4456Cys) c.13521G>C (p.Trp4507Cys) c.13101G>C (p.Trp4367Cys) c.12426G>C (p.Trp4142Cys) c.8610G>C (p.Trp2870Cys) c.8163G>C (p.Trp2721Cys) c.7500G>C (p.Trp2500Cys) c.12015G>C (p.Trp4005Cys) | |
| 5 | g.13701362C>T | CA359192900 | DNAH5 | n.746G>A c.13413G>A (p.Trp4471Ter) c.13368G>A (p.Trp4456Ter) c.13521G>A (p.Trp4507Ter) c.13101G>A (p.Trp4367Ter) c.12426G>A (p.Trp4142Ter) c.8610G>A (p.Trp2870Ter) c.8163G>A (p.Trp2721Ter) c.7500G>A (p.Trp2500Ter) c.12015G>A (p.Trp4005Ter) | ClinVar dbSNP |
| 5 | g.13701363C>A | CA3201372 | DNAH5 | n.745G>T c.13412G>T (p.Trp4471Leu) c.13367G>T (p.Trp4456Leu) c.13520G>T (p.Trp4507Leu) c.13100G>T (p.Trp4367Leu) c.12425G>T (p.Trp4142Leu) c.8609G>T (p.Trp2870Leu) c.8162G>T (p.Trp2721Leu) c.7499G>T (p.Trp2500Leu) c.12014G>T (p.Trp4005Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701363C= | CA1528399918 | DNAH5 | n.745G= c.13412G= (p.Trp4471=) c.13367G= (p.Trp4456=) c.13520G= (p.Trp4507=) c.13100G= (p.Trp4367=) c.12425G= (p.Trp4142=) c.8609G= (p.Trp2870=) c.8162G= (p.Trp2721=) c.7499G= (p.Trp2500=) c.12014G= (p.Trp4005=) | |
| 5 | g.13701363C>G | CA359192906 | DNAH5 | n.745G>C c.13412G>C (p.Trp4471Ser) c.13367G>C (p.Trp4456Ser) c.13520G>C (p.Trp4507Ser) c.13100G>C (p.Trp4367Ser) c.12425G>C (p.Trp4142Ser) c.8609G>C (p.Trp2870Ser) c.8162G>C (p.Trp2721Ser) c.7499G>C (p.Trp2500Ser) c.12014G>C (p.Trp4005Ser) | |
| 5 | g.13701363C>T | CA359192908 | DNAH5 | n.745G>A c.13412G>A (p.Trp4471Ter) c.13367G>A (p.Trp4456Ter) c.13520G>A (p.Trp4507Ter) c.13100G>A (p.Trp4367Ter) c.12425G>A (p.Trp4142Ter) c.8609G>A (p.Trp2870Ter) c.8162G>A (p.Trp2721Ter) c.7499G>A (p.Trp2500Ter) c.12014G>A (p.Trp4005Ter) | ClinVar gnomAD v4 |
| 5 | g.13701364A>C | CA359192916 | DNAH5 | n.744T>G c.13411T>G (p.Trp4471Gly) c.13366T>G (p.Trp4456Gly) c.13519T>G (p.Trp4507Gly) c.13099T>G (p.Trp4367Gly) c.12424T>G (p.Trp4142Gly) c.8608T>G (p.Trp2870Gly) c.8161T>G (p.Trp2721Gly) c.7498T>G (p.Trp2500Gly) c.12013T>G (p.Trp4005Gly) | |
| 5 | g.13701364A>G | CA359192921 | DNAH5 | n.744T>C c.13411T>C (p.Trp4471Arg) c.13366T>C (p.Trp4456Arg) c.13519T>C (p.Trp4507Arg) c.13099T>C (p.Trp4367Arg) c.12424T>C (p.Trp4142Arg) c.8608T>C (p.Trp2870Arg) c.8161T>C (p.Trp2721Arg) c.7498T>C (p.Trp2500Arg) c.12013T>C (p.Trp4005Arg) | |
| 5 | g.13701364A>T | CA359192928 | DNAH5 | n.744T>A c.13411T>A (p.Trp4471Arg) c.13366T>A (p.Trp4456Arg) c.13519T>A (p.Trp4507Arg) c.13099T>A (p.Trp4367Arg) c.12424T>A (p.Trp4142Arg) c.8608T>A (p.Trp2870Arg) c.8161T>A (p.Trp2721Arg) c.7498T>A (p.Trp2500Arg) c.12013T>A (p.Trp4005Arg) | |
| 5 | g.13701365C>A | CA443250576 | DNAH5 | n.743G>T c.13410G>T (p.Ser4470=) c.13365G>T (p.Ser4455=) c.13518G>T (p.Ser4506=) c.13098G>T (p.Ser4366=) c.12423G>T (p.Ser4141=) c.8607G>T (p.Ser2869=) c.8160G>T (p.Ser2720=) c.7497G>T (p.Ser2499=) c.12012G>T (p.Ser4004=) | |
| 5 | g.13701365C= | CA1528399919 | DNAH5 | n.743G= c.13410G= (p.Ser4470=) c.13365G= (p.Ser4455=) c.13518G= (p.Ser4506=) c.13098G= (p.Ser4366=) c.12423G= (p.Ser4141=) c.8607G= (p.Ser2869=) c.8160G= (p.Ser2720=) c.7497G= (p.Ser2499=) c.12012G= (p.Ser4004=) | |
| 5 | g.13701365C>G | CA443250577 | DNAH5 | n.743G>C c.13410G>C (p.Ser4470=) c.13365G>C (p.Ser4455=) c.13518G>C (p.Ser4506=) c.13098G>C (p.Ser4366=) c.12423G>C (p.Ser4141=) c.8607G>C (p.Ser2869=) c.8160G>C (p.Ser2720=) c.7497G>C (p.Ser2499=) c.12012G>C (p.Ser4004=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13701365C>T | CA3201373 | DNAH5 | n.743G>A c.13410G>A (p.Ser4470=) c.13365G>A (p.Ser4455=) c.13518G>A (p.Ser4506=) c.13098G>A (p.Ser4366=) c.12423G>A (p.Ser4141=) c.8607G>A (p.Ser2869=) c.8160G>A (p.Ser2720=) c.7497G>A (p.Ser2499=) c.12012G>A (p.Ser4004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701366G>A | CA3201374 | DNAH5 | n.742C>T c.13409C>T (p.Ser4470Leu) c.13364C>T (p.Ser4455Leu) c.13517C>T (p.Ser4506Leu) c.13097C>T (p.Ser4366Leu) c.12422C>T (p.Ser4141Leu) c.8606C>T (p.Ser2869Leu) c.8159C>T (p.Ser2720Leu) c.7496C>T (p.Ser2499Leu) c.12011C>T (p.Ser4004Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701366G>C | CA359192935 | DNAH5 | n.742C>G c.13409C>G (p.Ser4470Trp) c.13364C>G (p.Ser4455Trp) c.13517C>G (p.Ser4506Trp) c.13097C>G (p.Ser4366Trp) c.12422C>G (p.Ser4141Trp) c.8606C>G (p.Ser2869Trp) c.8159C>G (p.Ser2720Trp) c.7496C>G (p.Ser2499Trp) c.12011C>G (p.Ser4004Trp) | |
| 5 | g.13701366G= | CA1528399920 | DNAH5 | n.742C= c.13409C= (p.Ser4470=) c.13364C= (p.Ser4455=) c.13517C= (p.Ser4506=) c.13097C= (p.Ser4366=) c.12422C= (p.Ser4141=) c.8606C= (p.Ser2869=) c.8159C= (p.Ser2720=) c.7496C= (p.Ser2499=) c.12011C= (p.Ser4004=) | |
| 5 | g.13701366G>T | CA359192940 | DNAH5 | n.742C>A c.13409C>A (p.Ser4470Ter) c.13364C>A (p.Ser4455Ter) c.13517C>A (p.Ser4506Ter) c.13097C>A (p.Ser4366Ter) c.12422C>A (p.Ser4141Ter) c.8606C>A (p.Ser2869Ter) c.8159C>A (p.Ser2720Ter) c.7496C>A (p.Ser2499Ter) c.12011C>A (p.Ser4004Ter) | |
| 5 | g.13701367A>C | CA359192947 | DNAH5 | n.741T>G c.13408T>G (p.Ser4470Ala) c.13363T>G (p.Ser4455Ala) c.13516T>G (p.Ser4506Ala) c.13096T>G (p.Ser4366Ala) c.12421T>G (p.Ser4141Ala) c.8605T>G (p.Ser2869Ala) c.8158T>G (p.Ser2720Ala) c.7495T>G (p.Ser2499Ala) c.12010T>G (p.Ser4004Ala) | |
| 5 | g.13701367A>G | CA359192956 | DNAH5 | n.741T>C c.13408T>C (p.Ser4470Pro) c.13363T>C (p.Ser4455Pro) c.13516T>C (p.Ser4506Pro) c.13096T>C (p.Ser4366Pro) c.12421T>C (p.Ser4141Pro) c.8605T>C (p.Ser2869Pro) c.8158T>C (p.Ser2720Pro) c.7495T>C (p.Ser2499Pro) c.12010T>C (p.Ser4004Pro) | |
| 5 | g.13701367A>T | CA359192959 | DNAH5 | n.741T>A c.13408T>A (p.Ser4470Thr) c.13363T>A (p.Ser4455Thr) c.13516T>A (p.Ser4506Thr) c.13096T>A (p.Ser4366Thr) c.12421T>A (p.Ser4141Thr) c.8605T>A (p.Ser2869Thr) c.8158T>A (p.Ser2720Thr) c.7495T>A (p.Ser2499Thr) c.12010T>A (p.Ser4004Thr) | |
| 5 | g.13701368G>A | CA443250578 | DNAH5 | n.740C>T c.13407C>T (p.Thr4469=) c.13362C>T (p.Thr4454=) c.13515C>T (p.Thr4505=) c.13095C>T (p.Thr4365=) c.12420C>T (p.Thr4140=) c.8604C>T (p.Thr2868=) c.8157C>T (p.Thr2719=) c.7494C>T (p.Thr2498=) c.12009C>T (p.Thr4003=) | gnomAD v4 |
| 5 | g.13701368G>C | CA443250579 | DNAH5 | n.740C>G c.13407C>G (p.Thr4469=) c.13362C>G (p.Thr4454=) c.13515C>G (p.Thr4505=) c.13095C>G (p.Thr4365=) c.12420C>G (p.Thr4140=) c.8604C>G (p.Thr2868=) c.8157C>G (p.Thr2719=) c.7494C>G (p.Thr2498=) c.12009C>G (p.Thr4003=) | gnomAD v4 |
| 5 | g.13701368G>T | CA443250580 | DNAH5 | n.740C>A c.13407C>A (p.Thr4469=) c.13362C>A (p.Thr4454=) c.13515C>A (p.Thr4505=) c.13095C>A (p.Thr4365=) c.12420C>A (p.Thr4140=) c.8604C>A (p.Thr2868=) c.8157C>A (p.Thr2719=) c.7494C>A (p.Thr2498=) c.12009C>A (p.Thr4003=) | ClinVar |
| 5 | g.13701369G>A | CA359192965 | DNAH5 | n.739C>T c.13406C>T (p.Thr4469Ile) c.13361C>T (p.Thr4454Ile) c.13514C>T (p.Thr4505Ile) c.13094C>T (p.Thr4365Ile) c.12419C>T (p.Thr4140Ile) c.8603C>T (p.Thr2868Ile) c.8156C>T (p.Thr2719Ile) c.7493C>T (p.Thr2498Ile) c.12008C>T (p.Thr4003Ile) | |
| 5 | g.13701369G>C | CA359192961 | DNAH5 | n.739C>G c.13406C>G (p.Thr4469Ser) c.13361C>G (p.Thr4454Ser) c.13514C>G (p.Thr4505Ser) c.13094C>G (p.Thr4365Ser) c.12419C>G (p.Thr4140Ser) c.8603C>G (p.Thr2868Ser) c.8156C>G (p.Thr2719Ser) c.7493C>G (p.Thr2498Ser) c.12008C>G (p.Thr4003Ser) | |
| 5 | g.13701369G>T | CA359192960 | DNAH5 | n.739C>A c.13406C>A (p.Thr4469Asn) c.13361C>A (p.Thr4454Asn) c.13514C>A (p.Thr4505Asn) c.13094C>A (p.Thr4365Asn) c.12419C>A (p.Thr4140Asn) c.8603C>A (p.Thr2868Asn) c.8156C>A (p.Thr2719Asn) c.7493C>A (p.Thr2498Asn) c.12008C>A (p.Thr4003Asn) | |
| 5 | g.13701370T>A | CA359192971 | DNAH5 | n.738A>T c.13405A>T (p.Thr4469Ser) c.13360A>T (p.Thr4454Ser) c.13513A>T (p.Thr4505Ser) c.13093A>T (p.Thr4365Ser) c.12418A>T (p.Thr4140Ser) c.8602A>T (p.Thr2868Ser) c.8155A>T (p.Thr2719Ser) c.7492A>T (p.Thr2498Ser) c.12007A>T (p.Thr4003Ser) | |
| 5 | g.13701370T>C | CA359192974 | DNAH5 | n.738A>G c.13405A>G (p.Thr4469Ala) c.13360A>G (p.Thr4454Ala) c.13513A>G (p.Thr4505Ala) c.13093A>G (p.Thr4365Ala) c.12418A>G (p.Thr4140Ala) c.8602A>G (p.Thr2868Ala) c.8155A>G (p.Thr2719Ala) c.7492A>G (p.Thr2498Ala) c.12007A>G (p.Thr4003Ala) | ClinVar gnomAD v4 |
| 5 | g.13701370T>G | CA359192980 | DNAH5 | n.738A>C c.13405A>C (p.Thr4469Pro) c.13360A>C (p.Thr4454Pro) c.13513A>C (p.Thr4505Pro) c.13093A>C (p.Thr4365Pro) c.12418A>C (p.Thr4140Pro) c.8602A>C (p.Thr2868Pro) c.8155A>C (p.Thr2719Pro) c.7492A>C (p.Thr2498Pro) c.12007A>C (p.Thr4003Pro) | |
| 5 | g.13701371A= | CA1528399921 | DNAH5 | n.737T= c.13404T= (p.Phe4468=) c.13359T= (p.Phe4453=) c.13512T= (p.Phe4504=) c.13092T= (p.Phe4364=) c.12417T= (p.Phe4139=) c.8601T= (p.Phe2867=) c.8154T= (p.Phe2718=) c.7491T= (p.Phe2497=) c.12006T= (p.Phe4002=) | |
| 5 | g.13701371A>C | CA359192983 | DNAH5 | n.737T>G c.13404T>G (p.Phe4468Leu) c.13359T>G (p.Phe4453Leu) c.13512T>G (p.Phe4504Leu) c.13092T>G (p.Phe4364Leu) c.12417T>G (p.Phe4139Leu) c.8601T>G (p.Phe2867Leu) c.8154T>G (p.Phe2718Leu) c.7491T>G (p.Phe2497Leu) c.12006T>G (p.Phe4002Leu) | |
| 5 | g.13701371A>G | CA113908445 | DNAH5 | n.737T>C c.13404T>C (p.Phe4468=) c.13359T>C (p.Phe4453=) c.13512T>C (p.Phe4504=) c.13092T>C (p.Phe4364=) c.12417T>C (p.Phe4139=) c.8601T>C (p.Phe2867=) c.8154T>C (p.Phe2718=) c.7491T>C (p.Phe2497=) c.12006T>C (p.Phe4002=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701371A>T | CA359192984 | DNAH5 | n.737T>A c.13404T>A (p.Phe4468Leu) c.13359T>A (p.Phe4453Leu) c.13512T>A (p.Phe4504Leu) c.13092T>A (p.Phe4364Leu) c.12417T>A (p.Phe4139Leu) c.8601T>A (p.Phe2867Leu) c.8154T>A (p.Phe2718Leu) c.7491T>A (p.Phe2497Leu) c.12006T>A (p.Phe4002Leu) | |
| 5 | g.13701372A>C | CA359192986 | DNAH5 | n.736T>G c.13403T>G (p.Phe4468Cys) c.13358T>G (p.Phe4453Cys) c.13511T>G (p.Phe4504Cys) c.13091T>G (p.Phe4364Cys) c.12416T>G (p.Phe4139Cys) c.8600T>G (p.Phe2867Cys) c.8153T>G (p.Phe2718Cys) c.7490T>G (p.Phe2497Cys) c.12005T>G (p.Phe4002Cys) | |
| 5 | g.13701372A>G | CA359192989 | DNAH5 | n.736T>C c.13403T>C (p.Phe4468Ser) c.13358T>C (p.Phe4453Ser) c.13511T>C (p.Phe4504Ser) c.13091T>C (p.Phe4364Ser) c.12416T>C (p.Phe4139Ser) c.8600T>C (p.Phe2867Ser) c.8153T>C (p.Phe2718Ser) c.7490T>C (p.Phe2497Ser) c.12005T>C (p.Phe4002Ser) | |
| 5 | g.13701372A>T | CA359192997 | DNAH5 | n.736T>A c.13403T>A (p.Phe4468Tyr) c.13358T>A (p.Phe4453Tyr) c.13511T>A (p.Phe4504Tyr) c.13091T>A (p.Phe4364Tyr) c.12416T>A (p.Phe4139Tyr) c.8600T>A (p.Phe2867Tyr) c.8153T>A (p.Phe2718Tyr) c.7490T>A (p.Phe2497Tyr) c.12005T>A (p.Phe4002Tyr) | |
| 5 | g.13701373A= | CA1528399922 | DNAH5 | n.735T= c.13402T= (p.Phe4468=) c.13357T= (p.Phe4453=) c.13510T= (p.Phe4504=) c.13090T= (p.Phe4364=) c.12415T= (p.Phe4139=) c.8599T= (p.Phe2867=) c.8152T= (p.Phe2718=) c.7489T= (p.Phe2497=) c.12004T= (p.Phe4002=) | |
| 5 | g.13701373A>C | CA359193003 | DNAH5 | n.735T>G c.13402T>G (p.Phe4468Val) c.13357T>G (p.Phe4453Val) c.13510T>G (p.Phe4504Val) c.13090T>G (p.Phe4364Val) c.12415T>G (p.Phe4139Val) c.8599T>G (p.Phe2867Val) c.8152T>G (p.Phe2718Val) c.7489T>G (p.Phe2497Val) c.12004T>G (p.Phe4002Val) | |
| 5 | g.13701373A>G | CA359193011 | DNAH5 | n.735T>C c.13402T>C (p.Phe4468Leu) c.13357T>C (p.Phe4453Leu) c.13510T>C (p.Phe4504Leu) c.13090T>C (p.Phe4364Leu) c.12415T>C (p.Phe4139Leu) c.8599T>C (p.Phe2867Leu) c.8152T>C (p.Phe2718Leu) c.7489T>C (p.Phe2497Leu) c.12004T>C (p.Phe4002Leu) | dbSNP |
| 5 | g.13701373A>T | CA359193015 | DNAH5 | n.735T>A c.13402T>A (p.Phe4468Ile) c.13357T>A (p.Phe4453Ile) c.13510T>A (p.Phe4504Ile) c.13090T>A (p.Phe4364Ile) c.12415T>A (p.Phe4139Ile) c.8599T>A (p.Phe2867Ile) c.8152T>A (p.Phe2718Ile) c.7489T>A (p.Phe2497Ile) c.12004T>A (p.Phe4002Ile) | |
| 5 | g.13701374C>A | CA359193020 | DNAH5 | n.734G>T c.13401G>T (p.Gln4467His) c.13356G>T (p.Gln4452His) c.13509G>T (p.Gln4503His) c.13089G>T (p.Gln4363His) c.12414G>T (p.Gln4138His) c.8598G>T (p.Gln2866His) c.8151G>T (p.Gln2717His) c.7488G>T (p.Gln2496His) c.12003G>T (p.Gln4001His) | |
| 5 | g.13701374C>G | CA359193023 | DNAH5 | n.734G>C c.13401G>C (p.Gln4467His) c.13356G>C (p.Gln4452His) c.13509G>C (p.Gln4503His) c.13089G>C (p.Gln4363His) c.12414G>C (p.Gln4138His) c.8598G>C (p.Gln2866His) c.8151G>C (p.Gln2717His) c.7488G>C (p.Gln2496His) c.12003G>C (p.Gln4001His) | |
| 5 | g.13701374C>T | CA443250583 | DNAH5 | n.734G>A c.13401G>A (p.Gln4467=) c.13356G>A (p.Gln4452=) c.13509G>A (p.Gln4503=) c.13089G>A (p.Gln4363=) c.12414G>A (p.Gln4138=) c.8598G>A (p.Gln2866=) c.8151G>A (p.Gln2717=) c.7488G>A (p.Gln2496=) c.12003G>A (p.Gln4001=) | gnomAD v4 |
| 5 | g.13701375T>A | CA359193028 | DNAH5 | n.733A>T c.13400A>T (p.Gln4467Leu) c.13355A>T (p.Gln4452Leu) c.13508A>T (p.Gln4503Leu) c.13088A>T (p.Gln4363Leu) c.12413A>T (p.Gln4138Leu) c.8597A>T (p.Gln2866Leu) c.8150A>T (p.Gln2717Leu) c.7487A>T (p.Gln2496Leu) c.12002A>T (p.Gln4001Leu) | |
| 5 | g.13701375T>C | CA359193037 | DNAH5 | n.733A>G c.13400A>G (p.Gln4467Arg) c.13355A>G (p.Gln4452Arg) c.13508A>G (p.Gln4503Arg) c.13088A>G (p.Gln4363Arg) c.12413A>G (p.Gln4138Arg) c.8597A>G (p.Gln2866Arg) c.8150A>G (p.Gln2717Arg) c.7487A>G (p.Gln2496Arg) c.12002A>G (p.Gln4001Arg) | |
| 5 | g.13701375T>G | CA359193031 | DNAH5 | n.733A>C c.13400A>C (p.Gln4467Pro) c.13355A>C (p.Gln4452Pro) c.13508A>C (p.Gln4503Pro) c.13088A>C (p.Gln4363Pro) c.12413A>C (p.Gln4138Pro) c.8597A>C (p.Gln2866Pro) c.8150A>C (p.Gln2717Pro) c.7487A>C (p.Gln2496Pro) c.12002A>C (p.Gln4001Pro) | |
| 5 | g.13701376G>A | CA3201375 | DNAH5 | n.732C>T c.13399C>T (p.Gln4467Ter) c.13354C>T (p.Gln4452Ter) c.13507C>T (p.Gln4503Ter) c.13087C>T (p.Gln4363Ter) c.12412C>T (p.Gln4138Ter) c.8596C>T (p.Gln2866Ter) c.8149C>T (p.Gln2717Ter) c.7486C>T (p.Gln2496Ter) c.12001C>T (p.Gln4001Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701376G>C | CA359193050 | DNAH5 | n.732C>G c.13399C>G (p.Gln4467Glu) c.13354C>G (p.Gln4452Glu) c.13507C>G (p.Gln4503Glu) c.13087C>G (p.Gln4363Glu) c.12412C>G (p.Gln4138Glu) c.8596C>G (p.Gln2866Glu) c.8149C>G (p.Gln2717Glu) c.7486C>G (p.Gln2496Glu) c.12001C>G (p.Gln4001Glu) | |
| 5 | g.13701376G= | CA1528399923 | DNAH5 | n.732C= c.13399C= (p.Gln4467=) c.13354C= (p.Gln4452=) c.13507C= (p.Gln4503=) c.13087C= (p.Gln4363=) c.12412C= (p.Gln4138=) c.8596C= (p.Gln2866=) c.8149C= (p.Gln2717=) c.7486C= (p.Gln2496=) c.12001C= (p.Gln4001=) | |
| 5 | g.13701376G>T | CA359193062 | DNAH5 | n.732C>A c.13399C>A (p.Gln4467Lys) c.13354C>A (p.Gln4452Lys) c.13507C>A (p.Gln4503Lys) c.13087C>A (p.Gln4363Lys) c.12412C>A (p.Gln4138Lys) c.8596C>A (p.Gln2866Lys) c.8149C>A (p.Gln2717Lys) c.7486C>A (p.Gln2496Lys) c.12001C>A (p.Gln4001Lys) | |
| 5 | g.13701377G>A | CA443250584 | DNAH5 | n.731C>T c.13398C>T (p.Ser4466=) c.13353C>T (p.Ser4451=) c.13506C>T (p.Ser4502=) c.13086C>T (p.Ser4362=) c.12411C>T (p.Ser4137=) c.8595C>T (p.Ser2865=) c.8148C>T (p.Ser2716=) c.7485C>T (p.Ser2495=) c.12000C>T (p.Ser4000=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13701377G>C | CA359193065 | DNAH5 | n.731C>G c.13398C>G (p.Ser4466Arg) c.13353C>G (p.Ser4451Arg) c.13506C>G (p.Ser4502Arg) c.13086C>G (p.Ser4362Arg) c.12411C>G (p.Ser4137Arg) c.8595C>G (p.Ser2865Arg) c.8148C>G (p.Ser2716Arg) c.7485C>G (p.Ser2495Arg) c.12000C>G (p.Ser4000Arg) | |
| 5 | g.13701377G= | CA1528399924 | DNAH5 | n.731C= c.13398C= (p.Ser4466=) c.13353C= (p.Ser4451=) c.13506C= (p.Ser4502=) c.13086C= (p.Ser4362=) c.12411C= (p.Ser4137=) c.8595C= (p.Ser2865=) c.8148C= (p.Ser2716=) c.7485C= (p.Ser2495=) c.12000C= (p.Ser4000=) | |
| 5 | g.13701377G>T | CA359193070 | DNAH5 | n.731C>A c.13398C>A (p.Ser4466Arg) c.13353C>A (p.Ser4451Arg) c.13506C>A (p.Ser4502Arg) c.13086C>A (p.Ser4362Arg) c.12411C>A (p.Ser4137Arg) c.8595C>A (p.Ser2865Arg) c.8148C>A (p.Ser2716Arg) c.7485C>A (p.Ser2495Arg) c.12000C>A (p.Ser4000Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13701378C>A | CA359193081 | DNAH5 | n.730G>T c.13397G>T (p.Ser4466Ile) c.13352G>T (p.Ser4451Ile) c.13505G>T (p.Ser4502Ile) c.13085G>T (p.Ser4362Ile) c.12410G>T (p.Ser4137Ile) c.8594G>T (p.Ser2865Ile) c.8147G>T (p.Ser2716Ile) c.7484G>T (p.Ser2495Ile) c.11999G>T (p.Ser4000Ile) | |
| 5 | g.13701378C>G | CA359193087 | DNAH5 | n.730G>C c.13397G>C (p.Ser4466Thr) c.13352G>C (p.Ser4451Thr) c.13505G>C (p.Ser4502Thr) c.13085G>C (p.Ser4362Thr) c.12410G>C (p.Ser4137Thr) c.8594G>C (p.Ser2865Thr) c.8147G>C (p.Ser2716Thr) c.7484G>C (p.Ser2495Thr) c.11999G>C (p.Ser4000Thr) | |
| 5 | g.13701378C>T | CA359193089 | DNAH5 | n.730G>A c.13397G>A (p.Ser4466Asn) c.13352G>A (p.Ser4451Asn) c.13505G>A (p.Ser4502Asn) c.13085G>A (p.Ser4362Asn) c.12410G>A (p.Ser4137Asn) c.8594G>A (p.Ser2865Asn) c.8147G>A (p.Ser2716Asn) c.7484G>A (p.Ser2495Asn) c.11999G>A (p.Ser4000Asn) | dbSNP COSMIC |
| 5 | g.13701379T>A | CA359193090 | DNAH5 | n.729A>T c.13396A>T (p.Ser4466Cys) c.13351A>T (p.Ser4451Cys) c.13504A>T (p.Ser4502Cys) c.13084A>T (p.Ser4362Cys) c.12409A>T (p.Ser4137Cys) c.8593A>T (p.Ser2865Cys) c.8146A>T (p.Ser2716Cys) c.7483A>T (p.Ser2495Cys) c.11998A>T (p.Ser4000Cys) | |
| 5 | g.13701379T>C | CA359193094 | DNAH5 | n.729A>G c.13396A>G (p.Ser4466Gly) c.13351A>G (p.Ser4451Gly) c.13504A>G (p.Ser4502Gly) c.13084A>G (p.Ser4362Gly) c.12409A>G (p.Ser4137Gly) c.8593A>G (p.Ser2865Gly) c.8146A>G (p.Ser2716Gly) c.7483A>G (p.Ser2495Gly) c.11998A>G (p.Ser4000Gly) | |
| 5 | g.13701379T>G | CA359193107 | DNAH5 | n.729A>C c.13396A>C (p.Ser4466Arg) c.13351A>C (p.Ser4451Arg) c.13504A>C (p.Ser4502Arg) c.13084A>C (p.Ser4362Arg) c.12409A>C (p.Ser4137Arg) c.8593A>C (p.Ser2865Arg) c.8146A>C (p.Ser2716Arg) c.7483A>C (p.Ser2495Arg) c.11998A>C (p.Ser4000Arg) | |
| 5 | g.13701380G>A | CA443250586 | DNAH5 | n.728C>T c.13395C>T (p.Asn4465=) c.13350C>T (p.Asn4450=) c.13503C>T (p.Asn4501=) c.13083C>T (p.Asn4361=) c.12408C>T (p.Asn4136=) c.8592C>T (p.Asn2864=) c.8145C>T (p.Asn2715=) c.7482C>T (p.Asn2494=) c.11997C>T (p.Asn3999=) | dbSNP |
| 5 | g.13701380G>C | CA359193113 | DNAH5 | n.728C>G c.13395C>G (p.Asn4465Lys) c.13350C>G (p.Asn4450Lys) c.13503C>G (p.Asn4501Lys) c.13083C>G (p.Asn4361Lys) c.12408C>G (p.Asn4136Lys) c.8592C>G (p.Asn2864Lys) c.8145C>G (p.Asn2715Lys) c.7482C>G (p.Asn2494Lys) c.11997C>G (p.Asn3999Lys) | |
| 5 | g.13701380G>T | CA359193109 | DNAH5 | n.728C>A c.13395C>A (p.Asn4465Lys) c.13350C>A (p.Asn4450Lys) c.13503C>A (p.Asn4501Lys) c.13083C>A (p.Asn4361Lys) c.12408C>A (p.Asn4136Lys) c.8592C>A (p.Asn2864Lys) c.8145C>A (p.Asn2715Lys) c.7482C>A (p.Asn2494Lys) c.11997C>A (p.Asn3999Lys) | |
| 5 | g.13701381T>A | CA359193128 | DNAH5 | n.727A>T c.13394A>T (p.Asn4465Ile) c.13349A>T (p.Asn4450Ile) c.13502A>T (p.Asn4501Ile) c.13082A>T (p.Asn4361Ile) c.12407A>T (p.Asn4136Ile) c.8591A>T (p.Asn2864Ile) c.8144A>T (p.Asn2715Ile) c.7481A>T (p.Asn2494Ile) c.11996A>T (p.Asn3999Ile) | |
| 5 | g.13701381T>C | CA359193131 | DNAH5 | n.727A>G c.13394A>G (p.Asn4465Ser) c.13349A>G (p.Asn4450Ser) c.13502A>G (p.Asn4501Ser) c.13082A>G (p.Asn4361Ser) c.12407A>G (p.Asn4136Ser) c.8591A>G (p.Asn2864Ser) c.8144A>G (p.Asn2715Ser) c.7481A>G (p.Asn2494Ser) c.11996A>G (p.Asn3999Ser) | |
| 5 | g.13701381T>G | CA359193129 | DNAH5 | n.727A>C c.13394A>C (p.Asn4465Thr) c.13349A>C (p.Asn4450Thr) c.13502A>C (p.Asn4501Thr) c.13082A>C (p.Asn4361Thr) c.12407A>C (p.Asn4136Thr) c.8591A>C (p.Asn2864Thr) c.8144A>C (p.Asn2715Thr) c.7481A>C (p.Asn2494Thr) c.11996A>C (p.Asn3999Thr) | |
| 5 | g.13701381T= | CA1528399925 | DNAH5 | n.727A= c.13394A= (p.Asn4465=) c.13349A= (p.Asn4450=) c.13502A= (p.Asn4501=) c.13082A= (p.Asn4361=) c.12407A= (p.Asn4136=) c.8591A= (p.Asn2864=) c.8144A= (p.Asn2715=) c.7481A= (p.Asn2494=) c.11996A= (p.Asn3999=) | |
| 5 | g.13701383dup | CA2830587904 | DNAH5 | n.727dup c.13394dup (p.Asn4465LysfsTer23) c.13349dup (p.Asn4450LysfsTer23) c.13502dup (p.Asn4501LysfsTer23) c.13082dup (p.Asn4361LysfsTer23) c.12407dup (p.Asn4136LysfsTer23) c.8591dup (p.Asn2864LysfsTer23) c.8144dup (p.Asn2715LysfsTer23) c.7481dup (p.Asn2494LysfsTer23) c.11996dup (p.Asn3999LysfsTer23) | |
| 5 | g.13701382T>A | CA359193135 | DNAH5 | n.726A>T c.13393A>T (p.Asn4465Tyr) c.13348A>T (p.Asn4450Tyr) c.13501A>T (p.Asn4501Tyr) c.13081A>T (p.Asn4361Tyr) c.12406A>T (p.Asn4136Tyr) c.8590A>T (p.Asn2864Tyr) c.8143A>T (p.Asn2715Tyr) c.7480A>T (p.Asn2494Tyr) c.11995A>T (p.Asn3999Tyr) | |
| 5 | g.13701382T>C | CA359193136 | DNAH5 | n.726A>G c.13393A>G (p.Asn4465Asp) c.13348A>G (p.Asn4450Asp) c.13501A>G (p.Asn4501Asp) c.13081A>G (p.Asn4361Asp) c.12406A>G (p.Asn4136Asp) c.8590A>G (p.Asn2864Asp) c.8143A>G (p.Asn2715Asp) c.7480A>G (p.Asn2494Asp) c.11995A>G (p.Asn3999Asp) | |
| 5 | g.13701382T>G | CA359193137 | DNAH5 | n.726A>C c.13393A>C (p.Asn4465His) c.13348A>C (p.Asn4450His) c.13501A>C (p.Asn4501His) c.13081A>C (p.Asn4361His) c.12406A>C (p.Asn4136His) c.8590A>C (p.Asn2864His) c.8143A>C (p.Asn2715His) c.7480A>C (p.Asn2494His) c.11995A>C (p.Asn3999His) | |
| 5 | g.13701382_13701383insCTGGT | CA804355871 | DNAH5 | n.726_727insCCAGA c.13393_13394insCCAGA (p.Asn4465ThrfsTer20) c.13348_13349insCCAGA (p.Asn4450ThrfsTer20) c.13501_13502insCCAGA (p.Asn4501ThrfsTer20) c.13081_13082insCCAGA (p.Asn4361ThrfsTer20) c.12406_12407insCCAGA (p.Asn4136ThrfsTer20) c.8590_8591insCCAGA (p.Asn2864ThrfsTer20) c.8143_8144insCCAGA (p.Asn2715ThrfsTer20) c.7480_7481insCCAGA (p.Asn2494ThrfsTer20) c.11995_11996insCCAGA (p.Asn3999ThrfsTer20) | dbSNP |
| 5 | g.13701383T>A | CA359193139 | DNAH5 | n.725A>T c.13392A>T (p.Arg4464Ser) c.13347A>T (p.Arg4449Ser) c.13500A>T (p.Arg4500Ser) c.13080A>T (p.Arg4360Ser) c.12405A>T (p.Arg4135Ser) c.8589A>T (p.Arg2863Ser) c.8142A>T (p.Arg2714Ser) c.7479A>T (p.Arg2493Ser) c.11994A>T (p.Arg3998Ser) | |
| 5 | g.13701383T>C | CA443250587 | DNAH5 | n.725A>G c.13392A>G (p.Arg4464=) c.13347A>G (p.Arg4449=) c.13500A>G (p.Arg4500=) c.13080A>G (p.Arg4360=) c.12405A>G (p.Arg4135=) c.8589A>G (p.Arg2863=) c.8142A>G (p.Arg2714=) c.7479A>G (p.Arg2493=) c.11994A>G (p.Arg3998=) | |
| 5 | g.13701383T>G | CA3201376 | DNAH5 | n.725A>C c.13392A>C (p.Arg4464Ser) c.13347A>C (p.Arg4449Ser) c.13500A>C (p.Arg4500Ser) c.13080A>C (p.Arg4360Ser) c.12405A>C (p.Arg4135Ser) c.8589A>C (p.Arg2863Ser) c.8142A>C (p.Arg2714Ser) c.7479A>C (p.Arg2493Ser) c.11994A>C (p.Arg3998Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701383T= | CA1528399926 | DNAH5 | n.725A= c.13392A= (p.Arg4464=) c.13347A= (p.Arg4449=) c.13500A= (p.Arg4500=) c.13080A= (p.Arg4360=) c.12405A= (p.Arg4135=) c.8589A= (p.Arg2863=) c.8142A= (p.Arg2714=) c.7479A= (p.Arg2493=) c.11994A= (p.Arg3998=) | |
| 5 | g.13701384C>A | CA359193145 | DNAH5 | n.724G>T c.13391G>T (p.Arg4464Ile) c.13346G>T (p.Arg4449Ile) c.13499G>T (p.Arg4500Ile) c.13079G>T (p.Arg4360Ile) c.12404G>T (p.Arg4135Ile) c.8588G>T (p.Arg2863Ile) c.8141G>T (p.Arg2714Ile) c.7478G>T (p.Arg2493Ile) c.11993G>T (p.Arg3998Ile) | |
| 5 | g.13701384C>G | CA359193152 | DNAH5 | n.724G>C c.13391G>C (p.Arg4464Thr) c.13346G>C (p.Arg4449Thr) c.13499G>C (p.Arg4500Thr) c.13079G>C (p.Arg4360Thr) c.12404G>C (p.Arg4135Thr) c.8588G>C (p.Arg2863Thr) c.8141G>C (p.Arg2714Thr) c.7478G>C (p.Arg2493Thr) c.11993G>C (p.Arg3998Thr) | |
| 5 | g.13701384C>T | CA359193156 | DNAH5 | n.724G>A c.13391G>A (p.Arg4464Lys) c.13346G>A (p.Arg4449Lys) c.13499G>A (p.Arg4500Lys) c.13079G>A (p.Arg4360Lys) c.12404G>A (p.Arg4135Lys) c.8588G>A (p.Arg2863Lys) c.8141G>A (p.Arg2714Lys) c.7478G>A (p.Arg2493Lys) c.11993G>A (p.Arg3998Lys) | |
| 5 | g.13701385T>A | CA359193166 | DNAH5 | n.723A>T c.13390A>T (p.Arg4464Ter) c.13345A>T (p.Arg4449Ter) c.13498A>T (p.Arg4500Ter) c.13078A>T (p.Arg4360Ter) c.12403A>T (p.Arg4135Ter) c.8587A>T (p.Arg2863Ter) c.8140A>T (p.Arg2714Ter) c.7477A>T (p.Arg2493Ter) c.11992A>T (p.Arg3998Ter) | |
| 5 | g.13701385T>C | CA359193171 | DNAH5 | n.723A>G c.13390A>G (p.Arg4464Gly) c.13345A>G (p.Arg4449Gly) c.13498A>G (p.Arg4500Gly) c.13078A>G (p.Arg4360Gly) c.12403A>G (p.Arg4135Gly) c.8587A>G (p.Arg2863Gly) c.8140A>G (p.Arg2714Gly) c.7477A>G (p.Arg2493Gly) c.11992A>G (p.Arg3998Gly) | gnomAD v4 |
| 5 | g.13701385T>G | CA443250588 | DNAH5 | n.723A>C c.13390A>C (p.Arg4464=) c.13345A>C (p.Arg4449=) c.13498A>C (p.Arg4500=) c.13078A>C (p.Arg4360=) c.12403A>C (p.Arg4135=) c.8587A>C (p.Arg2863=) c.8140A>C (p.Arg2714=) c.7477A>C (p.Arg2493=) c.11992A>C (p.Arg3998=) | |
| 5 | g.13701386T>A | CA359193176 | DNAH5 | n.722A>T c.13389A>T (p.Glu4463Asp) c.13344A>T (p.Glu4448Asp) c.13497A>T (p.Glu4499Asp) c.13077A>T (p.Glu4359Asp) c.12402A>T (p.Glu4134Asp) c.8586A>T (p.Glu2862Asp) c.8139A>T (p.Glu2713Asp) c.7476A>T (p.Glu2492Asp) c.11991A>T (p.Glu3997Asp) | |
| 5 | g.13701386T>C | CA443250589 | DNAH5 | n.722A>G c.13389A>G (p.Glu4463=) c.13344A>G (p.Glu4448=) c.13497A>G (p.Glu4499=) c.13077A>G (p.Glu4359=) c.12402A>G (p.Glu4134=) c.8586A>G (p.Glu2862=) c.8139A>G (p.Glu2713=) c.7476A>G (p.Glu2492=) c.11991A>G (p.Glu3997=) | COSMIC |
| 5 | g.13701386T>G | CA359193203 | DNAH5 | n.722A>C c.13389A>C (p.Glu4463Asp) c.13344A>C (p.Glu4448Asp) c.13497A>C (p.Glu4499Asp) c.13077A>C (p.Glu4359Asp) c.12402A>C (p.Glu4134Asp) c.8586A>C (p.Glu2862Asp) c.8139A>C (p.Glu2713Asp) c.7476A>C (p.Glu2492Asp) c.11991A>C (p.Glu3997Asp) | |
| 5 | g.13701387T>A | CA359193211 | DNAH5 | n.721A>T c.13388A>T (p.Glu4463Val) c.13343A>T (p.Glu4448Val) c.13496A>T (p.Glu4499Val) c.13076A>T (p.Glu4359Val) c.12401A>T (p.Glu4134Val) c.8585A>T (p.Glu2862Val) c.8138A>T (p.Glu2713Val) c.7475A>T (p.Glu2492Val) c.11990A>T (p.Glu3997Val) | |
| 5 | g.13701387T>C | CA359193225 | DNAH5 | n.721A>G c.13388A>G (p.Glu4463Gly) c.13343A>G (p.Glu4448Gly) c.13496A>G (p.Glu4499Gly) c.13076A>G (p.Glu4359Gly) c.12401A>G (p.Glu4134Gly) c.8585A>G (p.Glu2862Gly) c.8138A>G (p.Glu2713Gly) c.7475A>G (p.Glu2492Gly) c.11990A>G (p.Glu3997Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13701387T>G | CA359193221 | DNAH5 | n.721A>C c.13388A>C (p.Glu4463Ala) c.13343A>C (p.Glu4448Ala) c.13496A>C (p.Glu4499Ala) c.13076A>C (p.Glu4359Ala) c.12401A>C (p.Glu4134Ala) c.8585A>C (p.Glu2862Ala) c.8138A>C (p.Glu2713Ala) c.7475A>C (p.Glu2492Ala) c.11990A>C (p.Glu3997Ala) | |
| 5 | g.13701387T= | CA1528399927 | DNAH5 | n.721A= c.13388A= (p.Glu4463=) c.13343A= (p.Glu4448=) c.13496A= (p.Glu4499=) c.13076A= (p.Glu4359=) c.12401A= (p.Glu4134=) c.8585A= (p.Glu2862=) c.8138A= (p.Glu2713=) c.7475A= (p.Glu2492=) c.11990A= (p.Glu3997=) | |
| 5 | g.13701388C>A | CA359193231 | DNAH5 | n.720G>T c.13387G>T (p.Glu4463Ter) c.13342G>T (p.Glu4448Ter) c.13495G>T (p.Glu4499Ter) c.13075G>T (p.Glu4359Ter) c.12400G>T (p.Glu4134Ter) c.8584G>T (p.Glu2862Ter) c.8137G>T (p.Glu2713Ter) c.7474G>T (p.Glu2492Ter) c.11989G>T (p.Glu3997Ter) | COSMIC |
| 5 | g.13701388C>G | CA359193232 | DNAH5 | n.720G>C c.13387G>C (p.Glu4463Gln) c.13342G>C (p.Glu4448Gln) c.13495G>C (p.Glu4499Gln) c.13075G>C (p.Glu4359Gln) c.12400G>C (p.Glu4134Gln) c.8584G>C (p.Glu2862Gln) c.8137G>C (p.Glu2713Gln) c.7474G>C (p.Glu2492Gln) c.11989G>C (p.Glu3997Gln) | |
| 5 | g.13701388C>T | CA359193233 | DNAH5 | n.720G>A c.13387G>A (p.Glu4463Lys) c.13342G>A (p.Glu4448Lys) c.13495G>A (p.Glu4499Lys) c.13075G>A (p.Glu4359Lys) c.12400G>A (p.Glu4134Lys) c.8584G>A (p.Glu2862Lys) c.8137G>A (p.Glu2713Lys) c.7474G>A (p.Glu2492Lys) c.11989G>A (p.Glu3997Lys) | COSMIC |
| 5 | g.13701388_13701389delinsCT | CA1528399928 | DNAH5 | n.719_720delinsAG c.13386_13387delinsAG (p.Ile4462=) c.13341_13342delinsAG (p.Ile4447=) c.13494_13495delinsAG (p.Ile4498=) c.13074_13075delinsAG (p.Ile4358=) c.12399_12400delinsAG (p.Ile4133=) c.8583_8584delinsAG (p.Ile2861=) c.8136_8137delinsAG (p.Ile2712=) c.7473_7474delinsAG (p.Ile2491=) c.11988_11989delinsAG (p.Ile3996=) | |
| 5 | g.13701389del | CA917418100 | DNAH5 | n.719del c.13386del (p.Ile4462MetfsTer21) c.13341del (p.Ile4447MetfsTer21) c.13494del (p.Ile4498MetfsTer21) c.13074del (p.Ile4358MetfsTer21) c.12399del (p.Ile4133MetfsTer21) c.8583del (p.Ile2861MetfsTer21) c.8136del (p.Ile2712MetfsTer21) c.7473del (p.Ile2491MetfsTer21) c.11988del (p.Ile3996MetfsTer21) | dbSNP |
| 5 | g.13701389T>A | CA443250590 | DNAH5 | n.719A>T c.13386A>T (p.Ile4462=) c.13341A>T (p.Ile4447=) c.13494A>T (p.Ile4498=) c.13074A>T (p.Ile4358=) c.12399A>T (p.Ile4133=) c.8583A>T (p.Ile2861=) c.8136A>T (p.Ile2712=) c.7473A>T (p.Ile2491=) c.11988A>T (p.Ile3996=) | |
| 5 | g.13701389T>C | CA359193235 | DNAH5 | n.719A>G c.13386A>G (p.Ile4462Met) c.13341A>G (p.Ile4447Met) c.13494A>G (p.Ile4498Met) c.13074A>G (p.Ile4358Met) c.12399A>G (p.Ile4133Met) c.8583A>G (p.Ile2861Met) c.8136A>G (p.Ile2712Met) c.7473A>G (p.Ile2491Met) c.11988A>G (p.Ile3996Met) | |
| 5 | g.13701389T>G | CA443250591 | DNAH5 | n.719A>C c.13386A>C (p.Ile4462=) c.13341A>C (p.Ile4447=) c.13494A>C (p.Ile4498=) c.13074A>C (p.Ile4358=) c.12399A>C (p.Ile4133=) c.8583A>C (p.Ile2861=) c.8136A>C (p.Ile2712=) c.7473A>C (p.Ile2491=) c.11988A>C (p.Ile3996=) | |
| 5 | g.13701390A= | CA1528399929 | DNAH5 | n.718T= c.13385T= (p.Ile4462=) c.13340T= (p.Ile4447=) c.13493T= (p.Ile4498=) c.13073T= (p.Ile4358=) c.12398T= (p.Ile4133=) c.8582T= (p.Ile2861=) c.8135T= (p.Ile2712=) c.7472T= (p.Ile2491=) c.11987T= (p.Ile3996=) | |
| 5 | g.13701390A>C | CA359193240 | DNAH5 | n.718T>G c.13385T>G (p.Ile4462Arg) c.13340T>G (p.Ile4447Arg) c.13493T>G (p.Ile4498Arg) c.13073T>G (p.Ile4358Arg) c.12398T>G (p.Ile4133Arg) c.8582T>G (p.Ile2861Arg) c.8135T>G (p.Ile2712Arg) c.7472T>G (p.Ile2491Arg) c.11987T>G (p.Ile3996Arg) | |
| 5 | g.13701390A>G | CA3201377 | DNAH5 | n.718T>C c.13385T>C (p.Ile4462Thr) c.13340T>C (p.Ile4447Thr) c.13493T>C (p.Ile4498Thr) c.13073T>C (p.Ile4358Thr) c.12398T>C (p.Ile4133Thr) c.8582T>C (p.Ile2861Thr) c.8135T>C (p.Ile2712Thr) c.7472T>C (p.Ile2491Thr) c.11987T>C (p.Ile3996Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13701390A>T | CA359193245 | DNAH5 | n.718T>A c.13385T>A (p.Ile4462Lys) c.13340T>A (p.Ile4447Lys) c.13493T>A (p.Ile4498Lys) c.13073T>A (p.Ile4358Lys) c.12398T>A (p.Ile4133Lys) c.8582T>A (p.Ile2861Lys) c.8135T>A (p.Ile2712Lys) c.7472T>A (p.Ile2491Lys) c.11987T>A (p.Ile3996Lys) |