UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13708248T>A | CA359197341 | DNAH5 | n.546A>T c.13213A>T (p.Ser4405Cys) c.13168A>T (p.Ser4390Cys) c.13321A>T (p.Ser4441Cys) c.12901A>T (p.Ser4301Cys) c.12226A>T (p.Ser4076Cys) c.8410A>T (p.Ser2804Cys) c.7963A>T (p.Ser2655Cys) c.7300A>T (p.Ser2434Cys) c.11815A>T (p.Ser3939Cys) | |
| 5 | g.13708248T>C | CA359197347 | DNAH5 | n.546A>G c.13213A>G (p.Ser4405Gly) c.13168A>G (p.Ser4390Gly) c.13321A>G (p.Ser4441Gly) c.12901A>G (p.Ser4301Gly) c.12226A>G (p.Ser4076Gly) c.8410A>G (p.Ser2804Gly) c.7963A>G (p.Ser2655Gly) c.7300A>G (p.Ser2434Gly) c.11815A>G (p.Ser3939Gly) | |
| 5 | g.13708248T>G | CA359197350 | DNAH5 | n.546A>C c.13213A>C (p.Ser4405Arg) c.13168A>C (p.Ser4390Arg) c.13321A>C (p.Ser4441Arg) c.12901A>C (p.Ser4301Arg) c.12226A>C (p.Ser4076Arg) c.8410A>C (p.Ser2804Arg) c.7963A>C (p.Ser2655Arg) c.7300A>C (p.Ser2434Arg) c.11815A>C (p.Ser3939Arg) | |
| 5 | g.13708249G>A | CA443251305 | DNAH5 | n.545C>T c.13212C>T (p.Leu4404=) c.13167C>T (p.Leu4389=) c.13320C>T (p.Leu4440=) c.12900C>T (p.Leu4300=) c.12225C>T (p.Leu4075=) c.8409C>T (p.Leu2803=) c.7962C>T (p.Leu2654=) c.7299C>T (p.Leu2433=) c.11814C>T (p.Leu3938=) | gnomAD v4 |
| 5 | g.13708249G>C | CA443251306 | DNAH5 | n.545C>G c.13212C>G (p.Leu4404=) c.13167C>G (p.Leu4389=) c.13320C>G (p.Leu4440=) c.12900C>G (p.Leu4300=) c.12225C>G (p.Leu4075=) c.8409C>G (p.Leu2803=) c.7962C>G (p.Leu2654=) c.7299C>G (p.Leu2433=) c.11814C>G (p.Leu3938=) | |
| 5 | g.13708249G>T | CA443251309 | DNAH5 | n.545C>A c.13212C>A (p.Leu4404=) c.13167C>A (p.Leu4389=) c.13320C>A (p.Leu4440=) c.12900C>A (p.Leu4300=) c.12225C>A (p.Leu4075=) c.8409C>A (p.Leu2803=) c.7962C>A (p.Leu2654=) c.7299C>A (p.Leu2433=) c.11814C>A (p.Leu3938=) | |
| 5 | g.13708250A>C | CA359197364 | DNAH5 | n.544T>G c.13211T>G (p.Leu4404Arg) c.13166T>G (p.Leu4389Arg) c.13319T>G (p.Leu4440Arg) c.12899T>G (p.Leu4300Arg) c.12224T>G (p.Leu4075Arg) c.8408T>G (p.Leu2803Arg) c.7961T>G (p.Leu2654Arg) c.7298T>G (p.Leu2433Arg) c.11813T>G (p.Leu3938Arg) | |
| 5 | g.13708250A>G | CA359197358 | DNAH5 | n.544T>C c.13211T>C (p.Leu4404Pro) c.13166T>C (p.Leu4389Pro) c.13319T>C (p.Leu4440Pro) c.12899T>C (p.Leu4300Pro) c.12224T>C (p.Leu4075Pro) c.8408T>C (p.Leu2803Pro) c.7961T>C (p.Leu2654Pro) c.7298T>C (p.Leu2433Pro) c.11813T>C (p.Leu3938Pro) | |
| 5 | g.13708250A>T | CA359197353 | DNAH5 | n.544T>A c.13211T>A (p.Leu4404His) c.13166T>A (p.Leu4389His) c.13319T>A (p.Leu4440His) c.12899T>A (p.Leu4300His) c.12224T>A (p.Leu4075His) c.8408T>A (p.Leu2803His) c.7961T>A (p.Leu2654His) c.7298T>A (p.Leu2433His) c.11813T>A (p.Leu3938His) | |
| 5 | g.13708251G>A | CA359197369 | DNAH5 | n.543C>T c.13210C>T (p.Leu4404Phe) c.13165C>T (p.Leu4389Phe) c.13318C>T (p.Leu4440Phe) c.12898C>T (p.Leu4300Phe) c.12223C>T (p.Leu4075Phe) c.8407C>T (p.Leu2803Phe) c.7960C>T (p.Leu2654Phe) c.7297C>T (p.Leu2433Phe) c.11812C>T (p.Leu3938Phe) | |
| 5 | g.13708251G>C | CA359197376 | DNAH5 | n.543C>G c.13210C>G (p.Leu4404Val) c.13165C>G (p.Leu4389Val) c.13318C>G (p.Leu4440Val) c.12898C>G (p.Leu4300Val) c.12223C>G (p.Leu4075Val) c.8407C>G (p.Leu2803Val) c.7960C>G (p.Leu2654Val) c.7297C>G (p.Leu2433Val) c.11812C>G (p.Leu3938Val) | |
| 5 | g.13708251G>T | CA359197380 | DNAH5 | n.543C>A c.13210C>A (p.Leu4404Ile) c.13165C>A (p.Leu4389Ile) c.13318C>A (p.Leu4440Ile) c.12898C>A (p.Leu4300Ile) c.12223C>A (p.Leu4075Ile) c.8407C>A (p.Leu2803Ile) c.7960C>A (p.Leu2654Ile) c.7297C>A (p.Leu2433Ile) c.11812C>A (p.Leu3938Ile) | |
| 5 | g.13708252T>A | CA443251314 | DNAH5 | n.542A>T c.13209A>T (p.Val4403=) c.13164A>T (p.Val4388=) c.13317A>T (p.Val4439=) c.12897A>T (p.Val4299=) c.12222A>T (p.Val4074=) c.8406A>T (p.Val2802=) c.7959A>T (p.Val2653=) c.7296A>T (p.Val2432=) c.11811A>T (p.Val3937=) | |
| 5 | g.13708252T>C | CA443251315 | DNAH5 | n.542A>G c.13209A>G (p.Val4403=) c.13164A>G (p.Val4388=) c.13317A>G (p.Val4439=) c.12897A>G (p.Val4299=) c.12222A>G (p.Val4074=) c.8406A>G (p.Val2802=) c.7959A>G (p.Val2653=) c.7296A>G (p.Val2432=) c.11811A>G (p.Val3937=) | |
| 5 | g.13708252T>G | CA443251316 | DNAH5 | n.542A>C c.13209A>C (p.Val4403=) c.13164A>C (p.Val4388=) c.13317A>C (p.Val4439=) c.12897A>C (p.Val4299=) c.12222A>C (p.Val4074=) c.8406A>C (p.Val2802=) c.7959A>C (p.Val2653=) c.7296A>C (p.Val2432=) c.11811A>C (p.Val3937=) | |
| 5 | g.13708253A>C | CA359197382 | DNAH5 | n.541T>G c.13208T>G (p.Val4403Gly) c.13163T>G (p.Val4388Gly) c.13316T>G (p.Val4439Gly) c.12896T>G (p.Val4299Gly) c.12221T>G (p.Val4074Gly) c.8405T>G (p.Val2802Gly) c.7958T>G (p.Val2653Gly) c.7295T>G (p.Val2432Gly) c.11810T>G (p.Val3937Gly) | |
| 5 | g.13708253A>G | CA359197383 | DNAH5 | n.541T>C c.13208T>C (p.Val4403Ala) c.13163T>C (p.Val4388Ala) c.13316T>C (p.Val4439Ala) c.12896T>C (p.Val4299Ala) c.12221T>C (p.Val4074Ala) c.8405T>C (p.Val2802Ala) c.7958T>C (p.Val2653Ala) c.7295T>C (p.Val2432Ala) c.11810T>C (p.Val3937Ala) | gnomAD v4 |
| 5 | g.13708253A>T | CA359197387 | DNAH5 | n.541T>A c.13208T>A (p.Val4403Glu) c.13163T>A (p.Val4388Glu) c.13316T>A (p.Val4439Glu) c.12896T>A (p.Val4299Glu) c.12221T>A (p.Val4074Glu) c.8405T>A (p.Val2802Glu) c.7958T>A (p.Val2653Glu) c.7295T>A (p.Val2432Glu) c.11810T>A (p.Val3937Glu) | |
| 5 | g.13708254C>A | CA359197391 | DNAH5 | n.540G>T c.13207G>T (p.Val4403Leu) c.13162G>T (p.Val4388Leu) c.13315G>T (p.Val4439Leu) c.12895G>T (p.Val4299Leu) c.12220G>T (p.Val4074Leu) c.8404G>T (p.Val2802Leu) c.7957G>T (p.Val2653Leu) c.7294G>T (p.Val2432Leu) c.11809G>T (p.Val3937Leu) | |
| 5 | g.13708254C= | CA1528403777 | DNAH5 | n.540G= c.13207G= (p.Val4403=) c.13162G= (p.Val4388=) c.13315G= (p.Val4439=) c.12895G= (p.Val4299=) c.12220G= (p.Val4074=) c.8404G= (p.Val2802=) c.7957G= (p.Val2653=) c.7294G= (p.Val2432=) c.11809G= (p.Val3937=) | |
| 5 | g.13708254C>G | CA359197404 | DNAH5 | n.540G>C c.13207G>C (p.Val4403Leu) c.13162G>C (p.Val4388Leu) c.13315G>C (p.Val4439Leu) c.12895G>C (p.Val4299Leu) c.12220G>C (p.Val4074Leu) c.8404G>C (p.Val2802Leu) c.7957G>C (p.Val2653Leu) c.7294G>C (p.Val2432Leu) c.11809G>C (p.Val3937Leu) | |
| 5 | g.13708254C>T | CA359197397 | DNAH5 | n.540G>A c.13207G>A (p.Val4403Ile) c.13162G>A (p.Val4388Ile) c.13315G>A (p.Val4439Ile) c.12895G>A (p.Val4299Ile) c.12220G>A (p.Val4074Ile) c.8404G>A (p.Val2802Ile) c.7957G>A (p.Val2653Ile) c.7294G>A (p.Val2432Ile) c.11809G>A (p.Val3937Ile) | dbSNP |
| 5 | g.13708255C>A | CA359197416 | DNAH5 | n.539G>T c.13206G>T (p.Arg4402Ser) c.13161G>T (p.Arg4387Ser) c.13314G>T (p.Arg4438Ser) c.12894G>T (p.Arg4298Ser) c.12219G>T (p.Arg4073Ser) c.8403G>T (p.Arg2801Ser) c.7956G>T (p.Arg2652Ser) c.7293G>T (p.Arg2431Ser) c.11808G>T (p.Arg3936Ser) | |
| 5 | g.13708255C= | CA1528403778 | DNAH5 | n.539G= c.13206G= (p.Arg4402=) c.13161G= (p.Arg4387=) c.13314G= (p.Arg4438=) c.12894G= (p.Arg4298=) c.12219G= (p.Arg4073=) c.8403G= (p.Arg2801=) c.7956G= (p.Arg2652=) c.7293G= (p.Arg2431=) c.11808G= (p.Arg3936=) | |
| 5 | g.13708255C>G | CA359197417 | DNAH5 | n.539G>C c.13206G>C (p.Arg4402Ser) c.13161G>C (p.Arg4387Ser) c.13314G>C (p.Arg4438Ser) c.12894G>C (p.Arg4298Ser) c.12219G>C (p.Arg4073Ser) c.8403G>C (p.Arg2801Ser) c.7956G>C (p.Arg2652Ser) c.7293G>C (p.Arg2431Ser) c.11808G>C (p.Arg3936Ser) | gnomAD v4 |
| 5 | g.13708255C>T | CA443251317 | DNAH5 | n.539G>A c.13206G>A (p.Arg4402=) c.13161G>A (p.Arg4387=) c.13314G>A (p.Arg4438=) c.12894G>A (p.Arg4298=) c.12219G>A (p.Arg4073=) c.8403G>A (p.Arg2801=) c.7956G>A (p.Arg2652=) c.7293G>A (p.Arg2431=) c.11808G>A (p.Arg3936=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708256C>A | CA359197424 | DNAH5 | n.538G>T c.13205G>T (p.Arg4402Met) c.13160G>T (p.Arg4387Met) c.13313G>T (p.Arg4438Met) c.12893G>T (p.Arg4298Met) c.12218G>T (p.Arg4073Met) c.8402G>T (p.Arg2801Met) c.7955G>T (p.Arg2652Met) c.7292G>T (p.Arg2431Met) c.11807G>T (p.Arg3936Met) | |
| 5 | g.13708256C>G | CA359197427 | DNAH5 | n.538G>C c.13205G>C (p.Arg4402Thr) c.13160G>C (p.Arg4387Thr) c.13313G>C (p.Arg4438Thr) c.12893G>C (p.Arg4298Thr) c.12218G>C (p.Arg4073Thr) c.8402G>C (p.Arg2801Thr) c.7955G>C (p.Arg2652Thr) c.7292G>C (p.Arg2431Thr) c.11807G>C (p.Arg3936Thr) | |
| 5 | g.13708256C>T | CA359197449 | DNAH5 | n.538G>A c.13205G>A (p.Arg4402Lys) c.13160G>A (p.Arg4387Lys) c.13313G>A (p.Arg4438Lys) c.12893G>A (p.Arg4298Lys) c.12218G>A (p.Arg4073Lys) c.8402G>A (p.Arg2801Lys) c.7955G>A (p.Arg2652Lys) c.7292G>A (p.Arg2431Lys) c.11807G>A (p.Arg3936Lys) | gnomAD v4 |
| 5 | g.13708257T>A | CA359197453 | DNAH5 | n.537A>T c.13204A>T (p.Arg4402Trp) c.13159A>T (p.Arg4387Trp) c.13312A>T (p.Arg4438Trp) c.12892A>T (p.Arg4298Trp) c.12217A>T (p.Arg4073Trp) c.8401A>T (p.Arg2801Trp) c.7954A>T (p.Arg2652Trp) c.7291A>T (p.Arg2431Trp) c.11806A>T (p.Arg3936Trp) | |
| 5 | g.13708257T>C | CA359197457 | DNAH5 | n.537A>G c.13204A>G (p.Arg4402Gly) c.13159A>G (p.Arg4387Gly) c.13312A>G (p.Arg4438Gly) c.12892A>G (p.Arg4298Gly) c.12217A>G (p.Arg4073Gly) c.8401A>G (p.Arg2801Gly) c.7954A>G (p.Arg2652Gly) c.7291A>G (p.Arg2431Gly) c.11806A>G (p.Arg3936Gly) | |
| 5 | g.13708257T>G | CA443251319 | DNAH5 | n.537A>C c.13204A>C (p.Arg4402=) c.13159A>C (p.Arg4387=) c.13312A>C (p.Arg4438=) c.12892A>C (p.Arg4298=) c.12217A>C (p.Arg4073=) c.8401A>C (p.Arg2801=) c.7954A>C (p.Arg2652=) c.7291A>C (p.Arg2431=) c.11806A>C (p.Arg3936=) | |
| 5 | g.13708258T>A | CA359197462 | DNAH5 | n.536A>T c.13203A>T (p.Gln4401His) c.13158A>T (p.Gln4386His) c.13311A>T (p.Gln4437His) c.12891A>T (p.Gln4297His) c.12216A>T (p.Gln4072His) c.8400A>T (p.Gln2800His) c.7953A>T (p.Gln2651His) c.7290A>T (p.Gln2430His) c.11805A>T (p.Gln3935His) | |
| 5 | g.13708258T>C | CA443251320 | DNAH5 | n.536A>G c.13203A>G (p.Gln4401=) c.13158A>G (p.Gln4386=) c.13311A>G (p.Gln4437=) c.12891A>G (p.Gln4297=) c.12216A>G (p.Gln4072=) c.8400A>G (p.Gln2800=) c.7953A>G (p.Gln2651=) c.7290A>G (p.Gln2430=) c.11805A>G (p.Gln3935=) | |
| 5 | g.13708258T>G | CA359197468 | DNAH5 | n.536A>C c.13203A>C (p.Gln4401His) c.13158A>C (p.Gln4386His) c.13311A>C (p.Gln4437His) c.12891A>C (p.Gln4297His) c.12216A>C (p.Gln4072His) c.8400A>C (p.Gln2800His) c.7953A>C (p.Gln2651His) c.7290A>C (p.Gln2430His) c.11805A>C (p.Gln3935His) | |
| 5 | g.13708259T>A | CA359197485 | DNAH5 | n.535A>T c.13202A>T (p.Gln4401Leu) c.13157A>T (p.Gln4386Leu) c.13310A>T (p.Gln4437Leu) c.12890A>T (p.Gln4297Leu) c.12215A>T (p.Gln4072Leu) c.8399A>T (p.Gln2800Leu) c.7952A>T (p.Gln2651Leu) c.7289A>T (p.Gln2430Leu) c.11804A>T (p.Gln3935Leu) | |
| 5 | g.13708259T>C | CA359197489 | DNAH5 | n.535A>G c.13202A>G (p.Gln4401Arg) c.13157A>G (p.Gln4386Arg) c.13310A>G (p.Gln4437Arg) c.12890A>G (p.Gln4297Arg) c.12215A>G (p.Gln4072Arg) c.8399A>G (p.Gln2800Arg) c.7952A>G (p.Gln2651Arg) c.7289A>G (p.Gln2430Arg) c.11804A>G (p.Gln3935Arg) | gnomAD v4 |
| 5 | g.13708259T>G | CA359197494 | DNAH5 | n.535A>C c.13202A>C (p.Gln4401Pro) c.13157A>C (p.Gln4386Pro) c.13310A>C (p.Gln4437Pro) c.12890A>C (p.Gln4297Pro) c.12215A>C (p.Gln4072Pro) c.8399A>C (p.Gln2800Pro) c.7952A>C (p.Gln2651Pro) c.7289A>C (p.Gln2430Pro) c.11804A>C (p.Gln3935Pro) | |
| 5 | g.13708260G>A | CA359197500 | DNAH5 | n.534C>T c.13201C>T (p.Gln4401Ter) c.13156C>T (p.Gln4386Ter) c.13309C>T (p.Gln4437Ter) c.12889C>T (p.Gln4297Ter) c.12214C>T (p.Gln4072Ter) c.8398C>T (p.Gln2800Ter) c.7951C>T (p.Gln2651Ter) c.7288C>T (p.Gln2430Ter) c.11803C>T (p.Gln3935Ter) | dbSNP |
| 5 | g.13708260G>C | CA359197496 | DNAH5 | n.534C>G c.13201C>G (p.Gln4401Glu) c.13156C>G (p.Gln4386Glu) c.13309C>G (p.Gln4437Glu) c.12889C>G (p.Gln4297Glu) c.12214C>G (p.Gln4072Glu) c.8398C>G (p.Gln2800Glu) c.7951C>G (p.Gln2651Glu) c.7288C>G (p.Gln2430Glu) c.11803C>G (p.Gln3935Glu) | |
| 5 | g.13708260G= | CA1528403779 | DNAH5 | n.534C= c.13201C= (p.Gln4401=) c.13156C= (p.Gln4386=) c.13309C= (p.Gln4437=) c.12889C= (p.Gln4297=) c.12214C= (p.Gln4072=) c.8398C= (p.Gln2800=) c.7951C= (p.Gln2651=) c.7288C= (p.Gln2430=) c.11803C= (p.Gln3935=) | |
| 5 | g.13708260G>T | CA359197495 | DNAH5 | n.534C>A c.13201C>A (p.Gln4401Lys) c.13156C>A (p.Gln4386Lys) c.13309C>A (p.Gln4437Lys) c.12889C>A (p.Gln4297Lys) c.12214C>A (p.Gln4072Lys) c.8398C>A (p.Gln2800Lys) c.7951C>A (p.Gln2651Lys) c.7288C>A (p.Gln2430Lys) c.11803C>A (p.Gln3935Lys) | |
| 5 | g.13708261C>A | CA359197527 | DNAH5 | n.533G>T c.13200G>T (p.Met4400Ile) c.13155G>T (p.Met4385Ile) c.13308G>T (p.Met4436Ile) c.12888G>T (p.Met4296Ile) c.12213G>T (p.Met4071Ile) c.8397G>T (p.Met2799Ile) c.7950G>T (p.Met2650Ile) c.7287G>T (p.Met2429Ile) c.11802G>T (p.Met3934Ile) | |
| 5 | g.13708261C= | CA1528403780 | DNAH5 | n.533G= c.13200G= (p.Met4400=) c.13155G= (p.Met4385=) c.13308G= (p.Met4436=) c.12888G= (p.Met4296=) c.12213G= (p.Met4071=) c.8397G= (p.Met2799=) c.7950G= (p.Met2650=) c.7287G= (p.Met2429=) c.11802G= (p.Met3934=) | |
| 5 | g.13708261C>G | CA359197508 | DNAH5 | n.533G>C c.13200G>C (p.Met4400Ile) c.13155G>C (p.Met4385Ile) c.13308G>C (p.Met4436Ile) c.12888G>C (p.Met4296Ile) c.12213G>C (p.Met4071Ile) c.8397G>C (p.Met2799Ile) c.7950G>C (p.Met2650Ile) c.7287G>C (p.Met2429Ile) c.11802G>C (p.Met3934Ile) | |
| 5 | g.13708261C>T | CA3201421 | DNAH5 | n.533G>A c.13200G>A (p.Met4400Ile) c.13155G>A (p.Met4385Ile) c.13308G>A (p.Met4436Ile) c.12888G>A (p.Met4296Ile) c.12213G>A (p.Met4071Ile) c.8397G>A (p.Met2799Ile) c.7950G>A (p.Met2650Ile) c.7287G>A (p.Met2429Ile) c.11802G>A (p.Met3934Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708262A= | CA1528403781 | DNAH5 | n.532T= c.13199T= (p.Met4400=) c.13154T= (p.Met4385=) c.13307T= (p.Met4436=) c.12887T= (p.Met4296=) c.12212T= (p.Met4071=) c.8396T= (p.Met2799=) c.7949T= (p.Met2650=) c.7286T= (p.Met2429=) c.11801T= (p.Met3934=) | |
| 5 | g.13708262A>C | CA359197539 | DNAH5 | n.532T>G c.13199T>G (p.Met4400Arg) c.13154T>G (p.Met4385Arg) c.13307T>G (p.Met4436Arg) c.12887T>G (p.Met4296Arg) c.12212T>G (p.Met4071Arg) c.8396T>G (p.Met2799Arg) c.7949T>G (p.Met2650Arg) c.7286T>G (p.Met2429Arg) c.11801T>G (p.Met3934Arg) | |
| 5 | g.13708262A>G | CA359197554 | DNAH5 | n.532T>C c.13199T>C (p.Met4400Thr) c.13154T>C (p.Met4385Thr) c.13307T>C (p.Met4436Thr) c.12887T>C (p.Met4296Thr) c.12212T>C (p.Met4071Thr) c.8396T>C (p.Met2799Thr) c.7949T>C (p.Met2650Thr) c.7286T>C (p.Met2429Thr) c.11801T>C (p.Met3934Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708262A>T | CA359197545 | DNAH5 | n.532T>A c.13199T>A (p.Met4400Lys) c.13154T>A (p.Met4385Lys) c.13307T>A (p.Met4436Lys) c.12887T>A (p.Met4296Lys) c.12212T>A (p.Met4071Lys) c.8396T>A (p.Met2799Lys) c.7949T>A (p.Met2650Lys) c.7286T>A (p.Met2429Lys) c.11801T>A (p.Met3934Lys) |