OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48303953C>A | CA406661590 | ODAD1 | c.853G>T (p.Ala285Ser) c.*561G>T (n.*561G>T) c.742G>T (p.Ala248Ser) n.870G>T c.169G>T (p.Ala57Ser) c.577G>T (p.Ala193Ser) c.892G>T (p.Ala298Ser) | |
| 19 | g.48303953C= | CA2339831781 | ODAD1 | c.853G= (p.Ala285=) c.*561G= (n.*561G=) c.742G= (p.Ala248=) n.870G= c.169G= (p.Ala57=) c.577G= (p.Ala193=) c.892G= (p.Ala298=) | |
| 19 | g.48303953C>G | CA406661591 | ODAD1 | c.853G>C (p.Ala285Pro) c.*561G>C (n.*561G>C) c.742G>C (p.Ala248Pro) n.870G>C c.169G>C (p.Ala57Pro) c.577G>C (p.Ala193Pro) c.892G>C (p.Ala298Pro) | |
| 19 | g.48303953C>T | CA130413 | ODAD1 | c.853G>A (p.Ala285Thr) c.*561G>A (n.*561G>A) c.742G>A (p.Ala248Thr) n.870G>A c.169G>A (p.Ala57Thr) c.577G>A (p.Ala193Thr) c.892G>A (p.Ala298Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303954C>A | CA406661593 | ODAD1 | c.852G>T (p.Gln284His) c.*560G>T (n.*560G>T) c.741G>T (p.Gln247His) n.869G>T c.168G>T (p.Gln56His) c.576G>T (p.Gln192His) c.891G>T (p.Gln297His) | |
| 19 | g.48303954C>G | CA406661595 | ODAD1 | c.852G>C (p.Gln284His) c.*560G>C (n.*560G>C) c.741G>C (p.Gln247His) n.869G>C c.168G>C (p.Gln56His) c.576G>C (p.Gln192His) c.891G>C (p.Gln297His) | |
| 19 | g.48303954C>T | CA508033808 | ODAD1 | c.852G>A (p.Gln284=) c.*560G>A (n.*560G>A) c.741G>A (p.Gln247=) n.869G>A c.168G>A (p.Gln56=) c.576G>A (p.Gln192=) c.891G>A (p.Gln297=) | |
| 19 | g.48303955T>A | CA406661601 | ODAD1 | c.851A>T (p.Gln284Leu) c.*559A>T (n.*559A>T) c.740A>T (p.Gln247Leu) n.868A>T c.167A>T (p.Gln56Leu) c.575A>T (p.Gln192Leu) c.890A>T (p.Gln297Leu) | |
| 19 | g.48303955T>C | CA406661599 | ODAD1 | c.851A>G (p.Gln284Arg) c.*559A>G (n.*559A>G) c.740A>G (p.Gln247Arg) n.868A>G c.167A>G (p.Gln56Arg) c.575A>G (p.Gln192Arg) c.890A>G (p.Gln297Arg) | |
| 19 | g.48303955T>G | CA406661597 | ODAD1 | c.851A>C (p.Gln284Pro) c.*559A>C (n.*559A>C) c.740A>C (p.Gln247Pro) n.868A>C c.167A>C (p.Gln56Pro) c.575A>C (p.Gln192Pro) c.890A>C (p.Gln297Pro) | |
| 19 | g.48303956G>A | CA406661606 | ODAD1 | c.850C>T (p.Gln284Ter) c.*558C>T (n.*558C>T) c.739C>T (p.Gln247Ter) n.867C>T c.166C>T (p.Gln56Ter) c.574C>T (p.Gln192Ter) c.889C>T (p.Gln297Ter) | |
| 19 | g.48303956G>C | CA406661602 | ODAD1 | c.850C>G (p.Gln284Glu) c.*558C>G (n.*558C>G) c.739C>G (p.Gln247Glu) n.867C>G c.166C>G (p.Gln56Glu) c.574C>G (p.Gln192Glu) c.889C>G (p.Gln297Glu) | gnomAD v4 |
| 19 | g.48303956G>T | CA406661605 | ODAD1 | c.850C>A (p.Gln284Lys) c.*558C>A (n.*558C>A) c.739C>A (p.Gln247Lys) n.867C>A c.166C>A (p.Gln56Lys) c.574C>A (p.Gln192Lys) c.889C>A (p.Gln297Lys) | |
| 19 | g.48303957C>A | CA406661609 | ODAD1 | c.849G>T (p.Lys283Asn) c.*557G>T (n.*557G>T) c.738G>T (p.Lys246Asn) n.866G>T c.165G>T (p.Lys55Asn) c.573G>T (p.Lys191Asn) c.888G>T (p.Lys296Asn) | |
| 19 | g.48303957C>G | CA406661611 | ODAD1 | c.849G>C (p.Lys283Asn) c.*557G>C (n.*557G>C) c.738G>C (p.Lys246Asn) n.866G>C c.165G>C (p.Lys55Asn) c.573G>C (p.Lys191Asn) c.888G>C (p.Lys296Asn) | |
| 19 | g.48303957C>T | CA508033816 | ODAD1 | c.849G>A (p.Lys283=) c.*557G>A (n.*557G>A) c.738G>A (p.Lys246=) n.866G>A c.165G>A (p.Lys55=) c.573G>A (p.Lys191=) c.888G>A (p.Lys296=) | |
| 19 | g.48303958T>A | CA406661613 | ODAD1 | c.848A>T (p.Lys283Met) c.*556A>T (n.*556A>T) c.737A>T (p.Lys246Met) n.865A>T c.164A>T (p.Lys55Met) c.572A>T (p.Lys191Met) c.887A>T (p.Lys296Met) | |
| 19 | g.48303958T>C | CA406661615 | ODAD1 | c.848A>G (p.Lys283Arg) c.*556A>G (n.*556A>G) c.737A>G (p.Lys246Arg) n.865A>G c.164A>G (p.Lys55Arg) c.572A>G (p.Lys191Arg) c.887A>G (p.Lys296Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48303958T>G | CA406661617 | ODAD1 | c.848A>C (p.Lys283Thr) c.*556A>C (n.*556A>C) c.737A>C (p.Lys246Thr) n.865A>C c.164A>C (p.Lys55Thr) c.572A>C (p.Lys191Thr) c.887A>C (p.Lys296Thr) | |
| 19 | g.48303958T= | CA2339831782 | ODAD1 | c.848A= (p.Lys283=) c.*556A= (n.*556A=) c.737A= (p.Lys246=) n.865A= c.164A= (p.Lys55=) c.572A= (p.Lys191=) c.887A= (p.Lys296=) | |
| 19 | g.48303959T>A | CA406661620 | ODAD1 | c.847A>T (p.Lys283Ter) c.*555A>T (n.*555A>T) c.736A>T (p.Lys246Ter) n.864A>T c.163A>T (p.Lys55Ter) c.571A>T (p.Lys191Ter) c.886A>T (p.Lys296Ter) | |
| 19 | g.48303959T>C | CA406661622 | ODAD1 | c.847A>G (p.Lys283Glu) c.*555A>G (n.*555A>G) c.736A>G (p.Lys246Glu) n.864A>G c.163A>G (p.Lys55Glu) c.571A>G (p.Lys191Glu) c.886A>G (p.Lys296Glu) | |
| 19 | g.48303959T>G | CA406661624 | ODAD1 | c.847A>C (p.Lys283Gln) c.*555A>C (n.*555A>C) c.736A>C (p.Lys246Gln) n.864A>C c.163A>C (p.Lys55Gln) c.571A>C (p.Lys191Gln) c.886A>C (p.Lys296Gln) | |
| 19 | g.48303960T>A | CA406661626 | ODAD1 | c.846A>T (p.Glu282Asp) c.*554A>T (n.*554A>T) c.735A>T (p.Glu245Asp) n.863A>T c.162A>T (p.Glu54Asp) c.570A>T (p.Glu190Asp) c.885A>T (p.Glu295Asp) | |
| 19 | g.48303960T>C | CA508033817 | ODAD1 | c.846A>G (p.Glu282=) c.*554A>G (n.*554A>G) c.735A>G (p.Glu245=) n.863A>G c.162A>G (p.Glu54=) c.570A>G (p.Glu190=) c.885A>G (p.Glu295=) | |
| 19 | g.48303960T>G | CA406661627 | ODAD1 | c.846A>C (p.Glu282Asp) c.*554A>C (n.*554A>C) c.735A>C (p.Glu245Asp) n.863A>C c.162A>C (p.Glu54Asp) c.570A>C (p.Glu190Asp) c.885A>C (p.Glu295Asp) | |
| 19 | g.48303961T>A | CA406661630 | ODAD1 | c.845A>T (p.Glu282Val) c.*553A>T (n.*553A>T) c.734A>T (p.Glu245Val) n.862A>T c.161A>T (p.Glu54Val) c.569A>T (p.Glu190Val) c.884A>T (p.Glu295Val) | |
| 19 | g.48303961T>C | CA406661632 | ODAD1 | c.845A>G (p.Glu282Gly) c.*553A>G (n.*553A>G) c.734A>G (p.Glu245Gly) n.862A>G c.161A>G (p.Glu54Gly) c.569A>G (p.Glu190Gly) c.884A>G (p.Glu295Gly) | gnomAD v4 |
| 19 | g.48303961T>G | CA406661629 | ODAD1 | c.845A>C (p.Glu282Ala) c.*553A>C (n.*553A>C) c.734A>C (p.Glu245Ala) n.862A>C c.161A>C (p.Glu54Ala) c.569A>C (p.Glu190Ala) c.884A>C (p.Glu295Ala) | |
| 19 | g.48303962C>A | CA406661634 | ODAD1 | c.844G>T (p.Glu282Ter) c.*552G>T (n.*552G>T) c.733G>T (p.Glu245Ter) n.861G>T c.160G>T (p.Glu54Ter) c.568G>T (p.Glu190Ter) c.883G>T (p.Glu295Ter) | |
| 19 | g.48303962C= | CA2339831783 | ODAD1 | c.844G= (p.Glu282=) c.*552G= (n.*552G=) c.733G= (p.Glu245=) n.861G= c.160G= (p.Glu54=) c.568G= (p.Glu190=) c.883G= (p.Glu295=) | |
| 19 | g.48303962C>G | CA406661636 | ODAD1 | c.844G>C (p.Glu282Gln) c.*552G>C (n.*552G>C) c.733G>C (p.Glu245Gln) n.861G>C c.160G>C (p.Glu54Gln) c.568G>C (p.Glu190Gln) c.883G>C (p.Glu295Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48303962C>T | CA309301425 | ODAD1 | c.844G>A (p.Glu282Lys) c.*552G>A (n.*552G>A) c.733G>A (p.Glu245Lys) n.861G>A c.160G>A (p.Glu54Lys) c.568G>A (p.Glu190Lys) c.883G>A (p.Glu295Lys) | dbSNP |
| 19 | g.48303963A>C | CA508033821 | ODAD1 | c.843T>G (p.Arg281=) c.*551T>G (n.*551T>G) c.732T>G (p.Arg244=) n.860T>G c.159T>G (p.Arg53=) c.567T>G (p.Arg189=) c.882T>G (p.Arg294=) | |
| 19 | g.48303963A>G | CA508033822 | ODAD1 | c.843T>C (p.Arg281=) c.*551T>C (n.*551T>C) c.732T>C (p.Arg244=) n.860T>C c.159T>C (p.Arg53=) c.567T>C (p.Arg189=) c.882T>C (p.Arg294=) | |
| 19 | g.48303963A>T | CA508033823 | ODAD1 | c.843T>A (p.Arg281=) c.*551T>A (n.*551T>A) c.732T>A (p.Arg244=) n.860T>A c.159T>A (p.Arg53=) c.567T>A (p.Arg189=) c.882T>A (p.Arg294=) | |
| 19 | g.48303964del | CA2586173007 | ODAD1 | c.842del (p.Arg281LeufsTer28) c.*550del (n.*550del) c.731del (p.Arg244LeufsTer28) n.859del c.158del (p.Arg53LeufsTer28) c.566del (p.Arg189LeufsTer28) c.881del (p.Arg294LeufsTer28) | gnomAD v4 |
| 19 | g.48303964C>A | CA406661640 | ODAD1 | c.842G>T (p.Arg281Leu) c.*550G>T (n.*550G>T) c.731G>T (p.Arg244Leu) n.859G>T c.158G>T (p.Arg53Leu) c.566G>T (p.Arg189Leu) c.881G>T (p.Arg294Leu) | |
| 19 | g.48303964C= | CA2339831784 | ODAD1 | c.842G= (p.Arg281=) c.*550G= (n.*550G=) c.731G= (p.Arg244=) n.859G= c.158G= (p.Arg53=) c.566G= (p.Arg189=) c.881G= (p.Arg294=) | |
| 19 | g.48303964C>G | CA406661641 | ODAD1 | c.842G>C (p.Arg281Pro) c.*550G>C (n.*550G>C) c.731G>C (p.Arg244Pro) n.859G>C c.158G>C (p.Arg53Pro) c.566G>C (p.Arg189Pro) c.881G>C (p.Arg294Pro) | |
| 19 | g.48303964C>T | CA9548946 | ODAD1 | c.842G>A (p.Arg281His) c.*550G>A (n.*550G>A) c.731G>A (p.Arg244His) n.859G>A c.158G>A (p.Arg53His) c.566G>A (p.Arg189His) c.881G>A (p.Arg294His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303965G>A | CA9548948 | ODAD1 | c.841C>T (p.Arg281Cys) c.*549C>T (n.*549C>T) c.730C>T (p.Arg244Cys) n.858C>T c.157C>T (p.Arg53Cys) c.565C>T (p.Arg189Cys) c.880C>T (p.Arg294Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303965G>C | CA9548947 | ODAD1 | c.841C>G (p.Arg281Gly) c.*549C>G (n.*549C>G) c.730C>G (p.Arg244Gly) n.858C>G c.157C>G (p.Arg53Gly) c.565C>G (p.Arg189Gly) c.880C>G (p.Arg294Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48303965G= | CA2339831785 | ODAD1 | c.841C= (p.Arg281=) c.*549C= (n.*549C=) c.730C= (p.Arg244=) n.858C= c.157C= (p.Arg53=) c.565C= (p.Arg189=) c.880C= (p.Arg294=) | |
| 19 | g.48303965G>T | CA406661645 | ODAD1 | c.841C>A (p.Arg281Ser) c.*549C>A (n.*549C>A) c.730C>A (p.Arg244Ser) n.858C>A c.157C>A (p.Arg53Ser) c.565C>A (p.Arg189Ser) c.880C>A (p.Arg294Ser) | |
| 19 | g.48303966C>A | CA406661648 | ODAD1 | c.840G>T (p.Lys280Asn) c.*548G>T (n.*548G>T) c.729G>T (p.Lys243Asn) n.857G>T c.156G>T (p.Lys52Asn) c.564G>T (p.Lys188Asn) c.879G>T (p.Lys293Asn) | |
| 19 | g.48303966C>G | CA406661650 | ODAD1 | c.840G>C (p.Lys280Asn) c.*548G>C (n.*548G>C) c.729G>C (p.Lys243Asn) n.857G>C c.156G>C (p.Lys52Asn) c.564G>C (p.Lys188Asn) c.879G>C (p.Lys293Asn) | |
| 19 | g.48303966C>T | CA508033830 | ODAD1 | c.840G>A (p.Lys280=) c.*548G>A (n.*548G>A) c.729G>A (p.Lys243=) n.857G>A c.156G>A (p.Lys52=) c.564G>A (p.Lys188=) c.879G>A (p.Lys293=) | |
| 19 | g.48303967T>A | CA406661653 | ODAD1 | c.839A>T (p.Lys280Met) c.*547A>T (n.*547A>T) c.728A>T (p.Lys243Met) n.856A>T c.155A>T (p.Lys52Met) c.563A>T (p.Lys188Met) c.878A>T (p.Lys293Met) | |
| 19 | g.48303967T>C | CA406661654 | ODAD1 | c.839A>G (p.Lys280Arg) c.*547A>G (n.*547A>G) c.728A>G (p.Lys243Arg) n.856A>G c.155A>G (p.Lys52Arg) c.563A>G (p.Lys188Arg) c.878A>G (p.Lys293Arg) | |
| 19 | g.48303967T>G | CA406661656 | ODAD1 | c.839A>C (p.Lys280Thr) c.*547A>C (n.*547A>C) c.728A>C (p.Lys243Thr) n.856A>C c.155A>C (p.Lys52Thr) c.563A>C (p.Lys188Thr) c.878A>C (p.Lys293Thr) | |
| 19 | g.48303968T>A | CA406661661 | ODAD1 | c.838A>T (p.Lys280Ter) c.*546A>T (n.*546A>T) c.727A>T (p.Lys243Ter) n.855A>T c.154A>T (p.Lys52Ter) c.562A>T (p.Lys188Ter) c.877A>T (p.Lys293Ter) | |
| 19 | g.48303968T>C | CA309301435 | ODAD1 | c.838A>G (p.Lys280Glu) c.*546A>G (n.*546A>G) c.727A>G (p.Lys243Glu) n.855A>G c.154A>G (p.Lys52Glu) c.562A>G (p.Lys188Glu) c.877A>G (p.Lys293Glu) | dbSNP gnomAD v4 |
| 19 | g.48303968T>G | CA406661659 | ODAD1 | c.838A>C (p.Lys280Gln) c.*546A>C (n.*546A>C) c.727A>C (p.Lys243Gln) n.855A>C c.154A>C (p.Lys52Gln) c.562A>C (p.Lys188Gln) c.877A>C (p.Lys293Gln) | |
| 19 | g.48303968T= | CA2339831786 | ODAD1 | c.838A= (p.Lys280=) c.*546A= (n.*546A=) c.727A= (p.Lys243=) n.855A= c.154A= (p.Lys52=) c.562A= (p.Lys188=) c.877A= (p.Lys293=) | |
| 19 | g.48303969C>A | CA406661664 | ODAD1 | c.837G>T (p.Glu279Asp) c.*545G>T (n.*545G>T) c.726G>T (p.Glu242Asp) n.854G>T c.153G>T (p.Glu51Asp) c.561G>T (p.Glu187Asp) c.876G>T (p.Glu292Asp) | |
| 19 | g.48303969C>G | CA406661666 | ODAD1 | c.837G>C (p.Glu279Asp) c.*545G>C (n.*545G>C) c.726G>C (p.Glu242Asp) n.854G>C c.153G>C (p.Glu51Asp) c.561G>C (p.Glu187Asp) c.876G>C (p.Glu292Asp) | |
| 19 | g.48303969C>T | CA508033834 | ODAD1 | c.837G>A (p.Glu279=) c.*545G>A (n.*545G>A) c.726G>A (p.Glu242=) n.854G>A c.153G>A (p.Glu51=) c.561G>A (p.Glu187=) c.876G>A (p.Glu292=) | |
| 19 | g.48303970T>A | CA406661669 | ODAD1 | c.836A>T (p.Glu279Val) c.*544A>T (n.*544A>T) c.725A>T (p.Glu242Val) n.853A>T c.152A>T (p.Glu51Val) c.560A>T (p.Glu187Val) c.875A>T (p.Glu292Val) | |
| 19 | g.48303970T>C | CA406661671 | ODAD1 | c.836A>G (p.Glu279Gly) c.*544A>G (n.*544A>G) c.725A>G (p.Glu242Gly) n.853A>G c.152A>G (p.Glu51Gly) c.560A>G (p.Glu187Gly) c.875A>G (p.Glu292Gly) | |
| 19 | g.48303970T>G | CA406661673 | ODAD1 | c.836A>C (p.Glu279Ala) c.*544A>C (n.*544A>C) c.725A>C (p.Glu242Ala) n.853A>C c.152A>C (p.Glu51Ala) c.560A>C (p.Glu187Ala) c.875A>C (p.Glu292Ala) | |
| 19 | g.48303971C>A | CA406661675 | ODAD1 | c.835G>T (p.Glu279Ter) c.*543G>T (n.*543G>T) c.724G>T (p.Glu242Ter) n.852G>T c.151G>T (p.Glu51Ter) c.559G>T (p.Glu187Ter) c.874G>T (p.Glu292Ter) | |
| 19 | g.48303971C>G | CA406661677 | ODAD1 | c.835G>C (p.Glu279Gln) c.*543G>C (n.*543G>C) c.724G>C (p.Glu242Gln) n.852G>C c.151G>C (p.Glu51Gln) c.559G>C (p.Glu187Gln) c.874G>C (p.Glu292Gln) | |
| 19 | g.48303971C>T | CA406661679 | ODAD1 | c.835G>A (p.Glu279Lys) c.*543G>A (n.*543G>A) c.724G>A (p.Glu242Lys) n.852G>A c.151G>A (p.Glu51Lys) c.559G>A (p.Glu187Lys) c.874G>A (p.Glu292Lys) | |
| 19 | g.48303972C>A | CA508033842 | ODAD1 | c.834G>T (p.Leu278=) c.*542G>T (n.*542G>T) c.723G>T (p.Leu241=) n.851G>T c.150G>T (p.Leu50=) c.558G>T (p.Leu186=) c.873G>T (p.Leu291=) | |
| 19 | g.48303972C= | CA2339831787 | ODAD1 | c.834G= (p.Leu278=) c.*542G= (n.*542G=) c.723G= (p.Leu241=) n.851G= c.150G= (p.Leu50=) c.558G= (p.Leu186=) c.873G= (p.Leu291=) | |
| 19 | g.48303972C>G | CA9548949 | ODAD1 | c.834G>C (p.Leu278=) c.*542G>C (n.*542G>C) c.723G>C (p.Leu241=) n.851G>C c.150G>C (p.Leu50=) c.558G>C (p.Leu186=) c.873G>C (p.Leu291=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303972C>T | CA508033840 | ODAD1 | c.834G>A (p.Leu278=) c.*542G>A (n.*542G>A) c.723G>A (p.Leu241=) n.851G>A c.150G>A (p.Leu50=) c.558G>A (p.Leu186=) c.873G>A (p.Leu291=) | |
| 19 | g.48303973A= | CA2339831788 | ODAD1 | c.833T= (p.Leu278=) c.*541T= (n.*541T=) c.722T= (p.Leu241=) n.850T= c.149T= (p.Leu50=) c.557T= (p.Leu186=) c.872T= (p.Leu291=) | |
| 19 | g.48303973A>C | CA406661682 | ODAD1 | c.833T>G (p.Leu278Arg) c.*541T>G (n.*541T>G) c.722T>G (p.Leu241Arg) n.850T>G c.149T>G (p.Leu50Arg) c.557T>G (p.Leu186Arg) c.872T>G (p.Leu291Arg) | |
| 19 | g.48303973A>G | CA406661684 | ODAD1 | c.833T>C (p.Leu278Pro) c.*541T>C (n.*541T>C) c.722T>C (p.Leu241Pro) n.850T>C c.149T>C (p.Leu50Pro) c.557T>C (p.Leu186Pro) c.872T>C (p.Leu291Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.48303973A>T | CA406661685 | ODAD1 | c.833T>A (p.Leu278Gln) c.*541T>A (n.*541T>A) c.722T>A (p.Leu241Gln) n.850T>A c.149T>A (p.Leu50Gln) c.557T>A (p.Leu186Gln) c.872T>A (p.Leu291Gln) | |
| 19 | g.48303974G>A | CA9548950 | ODAD1 | c.832C>T (p.Leu278=) c.*540C>T (n.*540C>T) c.721C>T (p.Leu241=) n.849C>T c.148C>T (p.Leu50=) c.556C>T (p.Leu186=) c.871C>T (p.Leu291=) | dbSNP ExAC gnomAD v4 |
| 19 | g.48303974G>C | CA406661688 | ODAD1 | c.832C>G (p.Leu278Val) c.*540C>G (n.*540C>G) c.721C>G (p.Leu241Val) n.849C>G c.148C>G (p.Leu50Val) c.556C>G (p.Leu186Val) c.871C>G (p.Leu291Val) | |
| 19 | g.48303974G= | CA2339831789 | ODAD1 | c.832C= (p.Leu278=) c.*540C= (n.*540C=) c.721C= (p.Leu241=) n.849C= c.148C= (p.Leu50=) c.556C= (p.Leu186=) c.871C= (p.Leu291=) | |
| 19 | g.48303974G>T | CA406661690 | ODAD1 | c.832C>A (p.Leu278Met) c.*540C>A (n.*540C>A) c.721C>A (p.Leu241Met) n.849C>A c.148C>A (p.Leu50Met) c.556C>A (p.Leu186Met) c.871C>A (p.Leu291Met) | |
| 19 | g.48303975G>A | CA508033846 | ODAD1 | c.831C>T (p.Val277=) c.*539C>T (n.*539C>T) c.720C>T (p.Val240=) n.848C>T c.147C>T (p.Val49=) c.555C>T (p.Val185=) c.870C>T (p.Val290=) | |
| 19 | g.48303975G>C | CA508033847 | ODAD1 | c.831C>G (p.Val277=) c.*539C>G (n.*539C>G) c.720C>G (p.Val240=) n.848C>G c.147C>G (p.Val49=) c.555C>G (p.Val185=) c.870C>G (p.Val290=) | dbSNP |
| 19 | g.48303975G= | CA2339831790 | ODAD1 | c.831C= (p.Val277=) c.*539C= (n.*539C=) c.720C= (p.Val240=) n.848C= c.147C= (p.Val49=) c.555C= (p.Val185=) c.870C= (p.Val290=) | |
| 19 | g.48303975G>T | CA508033845 | ODAD1 | c.831C>A (p.Val277=) c.*539C>A (n.*539C>A) c.720C>A (p.Val240=) n.848C>A c.147C>A (p.Val49=) c.555C>A (p.Val185=) c.870C>A (p.Val290=) | |
| 19 | g.48303976A>C | CA406661692 | ODAD1 | c.830T>G (p.Val277Gly) c.*538T>G (n.*538T>G) c.719T>G (p.Val240Gly) n.847T>G c.146T>G (p.Val49Gly) c.554T>G (p.Val185Gly) c.869T>G (p.Val290Gly) | |
| 19 | g.48303976A>G | CA406661696 | ODAD1 | c.830T>C (p.Val277Ala) c.*538T>C (n.*538T>C) c.719T>C (p.Val240Ala) n.847T>C c.146T>C (p.Val49Ala) c.554T>C (p.Val185Ala) c.869T>C (p.Val290Ala) | |
| 19 | g.48303976A>T | CA406661694 | ODAD1 | c.830T>A (p.Val277Asp) c.*538T>A (n.*538T>A) c.719T>A (p.Val240Asp) n.847T>A c.146T>A (p.Val49Asp) c.554T>A (p.Val185Asp) c.869T>A (p.Val290Asp) | |
| 19 | g.48303977C>A | CA309301467 | ODAD1 | c.829G>T (p.Val277Phe) c.*537G>T (n.*537G>T) c.718G>T (p.Val240Phe) n.846G>T c.145G>T (p.Val49Phe) c.553G>T (p.Val185Phe) c.868G>T (p.Val290Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48303977C= | CA2339831791 | ODAD1 | c.829G= (p.Val277=) c.*537G= (n.*537G=) c.718G= (p.Val240=) n.846G= c.145G= (p.Val49=) c.553G= (p.Val185=) c.868G= (p.Val290=) | |
| 19 | g.48303977C>G | CA406661699 | ODAD1 | c.829G>C (p.Val277Leu) c.*537G>C (n.*537G>C) c.718G>C (p.Val240Leu) n.846G>C c.145G>C (p.Val49Leu) c.553G>C (p.Val185Leu) c.868G>C (p.Val290Leu) | |
| 19 | g.48303977C>T | CA406661701 | ODAD1 | c.829G>A (p.Val277Ile) c.*537G>A (n.*537G>A) c.718G>A (p.Val240Ile) n.846G>A c.145G>A (p.Val49Ile) c.553G>A (p.Val185Ile) c.868G>A (p.Val290Ile) | |
| 19 | g.48303978A= | CA2339831792 | ODAD1 | c.828T= (p.Asp276=) c.*536T= (n.*536T=) c.717T= (p.Asp239=) n.845T= c.144T= (p.Asp48=) c.552T= (p.Asp184=) c.867T= (p.Asp289=) | |
| 19 | g.48303978A>C | CA406661703 | ODAD1 | c.828T>G (p.Asp276Glu) c.*536T>G (n.*536T>G) c.717T>G (p.Asp239Glu) n.845T>G c.144T>G (p.Asp48Glu) c.552T>G (p.Asp184Glu) c.867T>G (p.Asp289Glu) | |
| 19 | g.48303978A>G | CA508033849 | ODAD1 | c.828T>C (p.Asp276=) c.*536T>C (n.*536T>C) c.717T>C (p.Asp239=) n.845T>C c.144T>C (p.Asp48=) c.552T>C (p.Asp184=) c.867T>C (p.Asp289=) | gnomAD v3 gnomAD v4 |
| 19 | g.48303978A>T | CA406661705 | ODAD1 | c.828T>A (p.Asp276Glu) c.*536T>A (n.*536T>A) c.717T>A (p.Asp239Glu) n.845T>A c.144T>A (p.Asp48Glu) c.552T>A (p.Asp184Glu) c.867T>A (p.Asp289Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303979T>A | CA406661707 | ODAD1 | c.827A>T (p.Asp276Val) c.*535A>T (n.*535A>T) c.716A>T (p.Asp239Val) n.844A>T c.143A>T (p.Asp48Val) c.551A>T (p.Asp184Val) c.866A>T (p.Asp289Val) | |
| 19 | g.48303979T>C | CA406661709 | ODAD1 | c.827A>G (p.Asp276Gly) c.*535A>G (n.*535A>G) c.716A>G (p.Asp239Gly) n.844A>G c.143A>G (p.Asp48Gly) c.551A>G (p.Asp184Gly) c.866A>G (p.Asp289Gly) | |
| 19 | g.48303979T>G | CA406661712 | ODAD1 | c.827A>C (p.Asp276Ala) c.*535A>C (n.*535A>C) c.716A>C (p.Asp239Ala) n.844A>C c.143A>C (p.Asp48Ala) c.551A>C (p.Asp184Ala) c.866A>C (p.Asp289Ala) | |
| 19 | g.48303980C>A | CA406661714 | ODAD1 | c.826G>T (p.Asp276Tyr) c.*534G>T (n.*534G>T) c.715G>T (p.Asp239Tyr) n.843G>T c.142G>T (p.Asp48Tyr) c.550G>T (p.Asp184Tyr) c.865G>T (p.Asp289Tyr) | |
| 19 | g.48303980C= | CA2339831793 | ODAD1 | c.826G= (p.Asp276=) c.*534G= (n.*534G=) c.715G= (p.Asp239=) n.843G= c.142G= (p.Asp48=) c.550G= (p.Asp184=) c.865G= (p.Asp289=) | |
| 19 | g.48303980C>G | CA406661715 | ODAD1 | c.826G>C (p.Asp276His) c.*534G>C (n.*534G>C) c.715G>C (p.Asp239His) n.843G>C c.142G>C (p.Asp48His) c.550G>C (p.Asp184His) c.865G>C (p.Asp289His) | |
| 19 | g.48303980C>T | CA309301474 | ODAD1 | c.826G>A (p.Asp276Asn) c.*534G>A (n.*534G>A) c.715G>A (p.Asp239Asn) n.843G>A c.142G>A (p.Asp48Asn) c.550G>A (p.Asp184Asn) c.865G>A (p.Asp289Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48303981G>A | CA9548951 | ODAD1 | c.825C>T (p.Pro275=) c.*533C>T (n.*533C>T) c.714C>T (p.Pro238=) n.842C>T c.141C>T (p.Pro47=) c.549C>T (p.Pro183=) c.864C>T (p.Pro288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303981G>C | CA508033853 | ODAD1 | c.825C>G (p.Pro275=) c.*533C>G (n.*533C>G) c.714C>G (p.Pro238=) n.842C>G c.141C>G (p.Pro47=) c.549C>G (p.Pro183=) c.864C>G (p.Pro288=) | |
| 19 | g.48303981G= | CA2339831794 | ODAD1 | c.825C= (p.Pro275=) c.*533C= (n.*533C=) c.714C= (p.Pro238=) n.842C= c.141C= (p.Pro47=) c.549C= (p.Pro183=) c.864C= (p.Pro288=) | |
| 19 | g.48303981G>T | CA508033854 | ODAD1 | c.825C>A (p.Pro275=) c.*533C>A (n.*533C>A) c.714C>A (p.Pro238=) n.842C>A c.141C>A (p.Pro47=) c.549C>A (p.Pro183=) c.864C>A (p.Pro288=) | |
| 19 | g.48303982G>A | CA406661720 | ODAD1 | c.824C>T (p.Pro275Leu) c.*532C>T (n.*532C>T) c.713C>T (p.Pro238Leu) n.841C>T c.140C>T (p.Pro47Leu) c.548C>T (p.Pro183Leu) c.863C>T (p.Pro288Leu) | gnomAD v4 |
| 19 | g.48303982G>C | CA406661724 | ODAD1 | c.824C>G (p.Pro275Arg) c.*532C>G (n.*532C>G) c.713C>G (p.Pro238Arg) n.841C>G c.140C>G (p.Pro47Arg) c.548C>G (p.Pro183Arg) c.863C>G (p.Pro288Arg) | |
| 19 | g.48303982G>T | CA406661722 | ODAD1 | c.824C>A (p.Pro275His) c.*532C>A (n.*532C>A) c.713C>A (p.Pro238His) n.841C>A c.140C>A (p.Pro47His) c.548C>A (p.Pro183His) c.863C>A (p.Pro288His) | |
| 19 | g.48303983G>A | CA406661727 | ODAD1 | c.823C>T (p.Pro275Ser) c.*531C>T (n.*531C>T) c.712C>T (p.Pro238Ser) n.840C>T c.139C>T (p.Pro47Ser) c.547C>T (p.Pro183Ser) c.862C>T (p.Pro288Ser) | dbSNP |
| 19 | g.48303983G>C | CA406661728 | ODAD1 | c.823C>G (p.Pro275Ala) c.*531C>G (n.*531C>G) c.712C>G (p.Pro238Ala) n.840C>G c.139C>G (p.Pro47Ala) c.547C>G (p.Pro183Ala) c.862C>G (p.Pro288Ala) | |
| 19 | g.48303983G= | CA2339831795 | ODAD1 | c.823C= (p.Pro275=) c.*531C= (n.*531C=) c.712C= (p.Pro238=) n.840C= c.139C= (p.Pro47=) c.547C= (p.Pro183=) c.862C= (p.Pro288=) | |
| 19 | g.48303983G>T | CA406661730 | ODAD1 | c.823C>A (p.Pro275Thr) c.*531C>A (n.*531C>A) c.712C>A (p.Pro238Thr) n.840C>A c.139C>A (p.Pro47Thr) c.547C>A (p.Pro183Thr) c.862C>A (p.Pro288Thr) | |
| 19 | g.48303984A= | CA2339831796 | ODAD1 | c.822T= (p.Asp274=) c.*530T= (n.*530T=) c.711T= (p.Asp237=) n.839T= c.138T= (p.Asp46=) c.546T= (p.Asp182=) c.861T= (p.Asp287=) | |
| 19 | g.48303984A>C | CA406661732 | ODAD1 | c.822T>G (p.Asp274Glu) c.*530T>G (n.*530T>G) c.711T>G (p.Asp237Glu) n.839T>G c.138T>G (p.Asp46Glu) c.546T>G (p.Asp182Glu) c.861T>G (p.Asp287Glu) | |
| 19 | g.48303984A>G | CA9548952 | ODAD1 | c.822T>C (p.Asp274=) c.*530T>C (n.*530T>C) c.711T>C (p.Asp237=) n.839T>C c.138T>C (p.Asp46=) c.546T>C (p.Asp182=) c.861T>C (p.Asp287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303984A>T | CA406661735 | ODAD1 | c.822T>A (p.Asp274Glu) c.*530T>A (n.*530T>A) c.711T>A (p.Asp237Glu) n.839T>A c.138T>A (p.Asp46Glu) c.546T>A (p.Asp182Glu) c.861T>A (p.Asp287Glu) | |
| 19 | g.48303985T>A | CA406661738 | ODAD1 | c.821A>T (p.Asp274Val) c.*529A>T (n.*529A>T) c.710A>T (p.Asp237Val) n.838A>T c.137A>T (p.Asp46Val) c.545A>T (p.Asp182Val) c.860A>T (p.Asp287Val) | |
| 19 | g.48303985T>C | CA406661739 | ODAD1 | c.821A>G (p.Asp274Gly) c.*529A>G (n.*529A>G) c.710A>G (p.Asp237Gly) n.838A>G c.137A>G (p.Asp46Gly) c.545A>G (p.Asp182Gly) c.860A>G (p.Asp287Gly) | |
| 19 | g.48303985T>G | CA406661741 | ODAD1 | c.821A>C (p.Asp274Ala) c.*529A>C (n.*529A>C) c.710A>C (p.Asp237Ala) n.838A>C c.137A>C (p.Asp46Ala) c.545A>C (p.Asp182Ala) c.860A>C (p.Asp287Ala) | |
| 19 | g.48303986C>A | CA406661743 | ODAD1 | c.820G>T (p.Asp274Tyr) c.*528G>T (n.*528G>T) c.709G>T (p.Asp237Tyr) n.837G>T c.136G>T (p.Asp46Tyr) c.544G>T (p.Asp182Tyr) c.859G>T (p.Asp287Tyr) | |
| 19 | g.48303986C>G | CA406661745 | ODAD1 | c.820G>C (p.Asp274His) c.*528G>C (n.*528G>C) c.709G>C (p.Asp237His) n.837G>C c.136G>C (p.Asp46His) c.544G>C (p.Asp182His) c.859G>C (p.Asp287His) | |
| 19 | g.48303986C>T | CA406661747 | ODAD1 | c.820G>A (p.Asp274Asn) c.*528G>A (n.*528G>A) c.709G>A (p.Asp237Asn) n.837G>A c.136G>A (p.Asp46Asn) c.544G>A (p.Asp182Asn) c.859G>A (p.Asp287Asn) | |
| 19 | g.48303987C>A | CA508033861 | ODAD1 | c.819G>T (p.Pro273=) c.*527G>T (n.*527G>T) c.708G>T (p.Pro236=) n.836G>T c.135G>T (p.Pro45=) c.543G>T (p.Pro181=) c.858G>T (p.Pro286=) | gnomAD v4 |
| 19 | g.48303987C= | CA2339831797 | ODAD1 | c.819G= (p.Pro273=) c.*527G= (n.*527G=) c.708G= (p.Pro236=) n.836G= c.135G= (p.Pro45=) c.543G= (p.Pro181=) c.858G= (p.Pro286=) | |
| 19 | g.48303987C>G | CA508033864 | ODAD1 | c.819G>C (p.Pro273=) c.*527G>C (n.*527G>C) c.708G>C (p.Pro236=) n.836G>C c.135G>C (p.Pro45=) c.543G>C (p.Pro181=) c.858G>C (p.Pro286=) | |
| 19 | g.48303987C>T | CA9548953 | ODAD1 | c.819G>A (p.Pro273=) c.*527G>A (n.*527G>A) c.708G>A (p.Pro236=) n.836G>A c.135G>A (p.Pro45=) c.543G>A (p.Pro181=) c.858G>A (p.Pro286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.48303988G>A | CA9548954 | ODAD1 | c.818C>T (p.Pro273Leu) c.*526C>T (n.*526C>T) c.707C>T (p.Pro236Leu) n.835C>T c.134C>T (p.Pro45Leu) c.542C>T (p.Pro181Leu) c.857C>T (p.Pro286Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303988G>C | CA406661750 | ODAD1 | c.818C>G (p.Pro273Arg) c.*526C>G (n.*526C>G) c.707C>G (p.Pro236Arg) n.835C>G c.134C>G (p.Pro45Arg) c.542C>G (p.Pro181Arg) c.857C>G (p.Pro286Arg) | |
| 19 | g.48303988G= | CA2339831798 | ODAD1 | c.818C= (p.Pro273=) c.*526C= (n.*526C=) c.707C= (p.Pro236=) n.835C= c.134C= (p.Pro45=) c.542C= (p.Pro181=) c.857C= (p.Pro286=) | |
| 19 | g.48303988G>T | CA406661753 | ODAD1 | c.818C>A (p.Pro273Gln) c.*526C>A (n.*526C>A) c.707C>A (p.Pro236Gln) n.835C>A c.134C>A (p.Pro45Gln) c.542C>A (p.Pro181Gln) c.857C>A (p.Pro286Gln) | |
| 19 | g.48303989G>A | CA406661757 | ODAD1 | c.817C>T (p.Pro273Ser) c.*525C>T (n.*525C>T) c.706C>T (p.Pro236Ser) n.834C>T c.133C>T (p.Pro45Ser) c.541C>T (p.Pro181Ser) c.856C>T (p.Pro286Ser) | |
| 19 | g.48303989G>C | CA406661758 | ODAD1 | c.817C>G (p.Pro273Ala) c.*525C>G (n.*525C>G) c.706C>G (p.Pro236Ala) n.834C>G c.133C>G (p.Pro45Ala) c.541C>G (p.Pro181Ala) c.856C>G (p.Pro286Ala) | |
| 19 | g.48303989G= | CA2339831799 | ODAD1 | c.817C= (p.Pro273=) c.*525C= (n.*525C=) c.706C= (p.Pro236=) n.834C= c.133C= (p.Pro45=) c.541C= (p.Pro181=) c.856C= (p.Pro286=) | |
| 19 | g.48303989G>T | CA406661760 | ODAD1 | c.817C>A (p.Pro273Thr) c.*525C>A (n.*525C>A) c.706C>A (p.Pro236Thr) n.834C>A c.133C>A (p.Pro45Thr) c.541C>A (p.Pro181Thr) c.856C>A (p.Pro286Thr) | |
| 19 | g.48303990C>A | CA9548955 | ODAD1 | c.816G>T (p.Gln272His) c.*524G>T (n.*524G>T) c.705G>T (p.Gln235His) n.833G>T c.132G>T (p.Gln44His) c.540G>T (p.Gln180His) c.855G>T (p.Gln285His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303990C= | CA2339831800 | ODAD1 | c.816G= (p.Gln272=) c.*524G= (n.*524G=) c.705G= (p.Gln235=) n.833G= c.132G= (p.Gln44=) c.540G= (p.Gln180=) c.855G= (p.Gln285=) | |
| 19 | g.48303990C>G | CA406661763 | ODAD1 | c.816G>C (p.Gln272His) c.*524G>C (n.*524G>C) c.705G>C (p.Gln235His) n.833G>C c.132G>C (p.Gln44His) c.540G>C (p.Gln180His) c.855G>C (p.Gln285His) | |
| 19 | g.48303990C>T | CA508033871 | ODAD1 | c.816G>A (p.Gln272=) c.*524G>A (n.*524G>A) c.705G>A (p.Gln235=) n.833G>A c.132G>A (p.Gln44=) c.540G>A (p.Gln180=) c.855G>A (p.Gln285=) | COSMIC COSMIC |
| 19 | g.48303991_48303994dup | CA883002078 | ODAD1 | c.813_816dup (p.Pro273AlafsTer11) c.*521_*524dup (n.*521_*524dup) c.702_705dup (p.Pro236AlafsTer11) n.830_833dup c.129_132dup (p.Pro45AlafsTer11) c.537_540dup (p.Pro181AlafsTer11) c.852_855dup (p.Pro286AlafsTer11) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48303991del | CA2586173008 | ODAD1 | c.815del (p.Gln272ArgfsTer?) c.*523del (n.*523del) c.704del (p.Gln235ArgfsTer?) n.832del c.131del (p.Gln44ArgfsTer?) c.539del (p.Gln180ArgfsTer?) c.854del (p.Gln285ArgfsTer?) | gnomAD v4 |
| 19 | g.48303991T>A | CA406661765 | ODAD1 | c.815A>T (p.Gln272Leu) c.*523A>T (n.*523A>T) c.704A>T (p.Gln235Leu) n.832A>T c.131A>T (p.Gln44Leu) c.539A>T (p.Gln180Leu) c.854A>T (p.Gln285Leu) | |
| 19 | g.48303991T>C | CA406661767 | ODAD1 | c.815A>G (p.Gln272Arg) c.*523A>G (n.*523A>G) c.704A>G (p.Gln235Arg) n.832A>G c.131A>G (p.Gln44Arg) c.539A>G (p.Gln180Arg) c.854A>G (p.Gln285Arg) | |
| 19 | g.48303991T>G | CA406661770 | ODAD1 | c.815A>C (p.Gln272Pro) c.*523A>C (n.*523A>C) c.704A>C (p.Gln235Pro) n.832A>C c.131A>C (p.Gln44Pro) c.539A>C (p.Gln180Pro) c.854A>C (p.Gln285Pro) | |
| 19 | g.48303992G>A | CA406661772 | ODAD1 | c.814C>T (p.Gln272Ter) c.*522C>T (n.*522C>T) c.703C>T (p.Gln235Ter) n.831C>T c.130C>T (p.Gln44Ter) c.538C>T (p.Gln180Ter) c.853C>T (p.Gln285Ter) | |
| 19 | g.48303992G>C | CA406661774 | ODAD1 | c.814C>G (p.Gln272Glu) c.*522C>G (n.*522C>G) c.703C>G (p.Gln235Glu) n.831C>G c.130C>G (p.Gln44Glu) c.538C>G (p.Gln180Glu) c.853C>G (p.Gln285Glu) | |
| 19 | g.48303992G>T | CA406661776 | ODAD1 | c.814C>A (p.Gln272Lys) c.*522C>A (n.*522C>A) c.703C>A (p.Gln235Lys) n.831C>A c.130C>A (p.Gln44Lys) c.538C>A (p.Gln180Lys) c.853C>A (p.Gln285Lys) | |
| 19 | g.48303993C>A | CA508033874 | ODAD1 | c.813G>T (p.Arg271=) c.*521G>T (n.*521G>T) c.702G>T (p.Arg234=) n.830G>T c.129G>T (p.Arg43=) c.537G>T (p.Arg179=) c.852G>T (p.Arg284=) | |
| 19 | g.48303993C>G | CA508033876 | ODAD1 | c.813G>C (p.Arg271=) c.*521G>C (n.*521G>C) c.702G>C (p.Arg234=) n.830G>C c.129G>C (p.Arg43=) c.537G>C (p.Arg179=) c.852G>C (p.Arg284=) | gnomAD v4 COSMIC COSMIC |
| 19 | g.48303993C>T | CA508033877 | ODAD1 | c.813G>A (p.Arg271=) c.*521G>A (n.*521G>A) c.702G>A (p.Arg234=) n.830G>A c.129G>A (p.Arg43=) c.537G>A (p.Arg179=) c.852G>A (p.Arg284=) | |
| 19 | g.48303994C>A | CA406661777 | ODAD1 | c.812G>T (p.Arg271Leu) c.*520G>T (n.*520G>T) c.701G>T (p.Arg234Leu) n.829G>T c.128G>T (p.Arg43Leu) c.536G>T (p.Arg179Leu) c.851G>T (p.Arg284Leu) | dbSNP gnomAD v4 |
| 19 | g.48303994C= | CA2339831801 | ODAD1 | c.812G= (p.Arg271=) c.*520G= (n.*520G=) c.701G= (p.Arg234=) n.829G= c.128G= (p.Arg43=) c.536G= (p.Arg179=) c.851G= (p.Arg284=) | |
| 19 | g.48303994C>G | CA406661778 | ODAD1 | c.812G>C (p.Arg271Pro) c.*520G>C (n.*520G>C) c.701G>C (p.Arg234Pro) n.829G>C c.128G>C (p.Arg43Pro) c.536G>C (p.Arg179Pro) c.851G>C (p.Arg284Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303994C>T | CA9548956 | ODAD1 | c.812G>A (p.Arg271Gln) c.*520G>A (n.*520G>A) c.701G>A (p.Arg234Gln) n.829G>A c.128G>A (p.Arg43Gln) c.536G>A (p.Arg179Gln) c.851G>A (p.Arg284Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303995G>A | CA9548957 | ODAD1 | c.811C>T (p.Arg271Trp) c.*519C>T (n.*519C>T) c.700C>T (p.Arg234Trp) n.828C>T c.127C>T (p.Arg43Trp) c.535C>T (p.Arg179Trp) c.850C>T (p.Arg284Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303995G>C | CA406661782 | ODAD1 | c.811C>G (p.Arg271Gly) c.*519C>G (n.*519C>G) c.700C>G (p.Arg234Gly) n.828C>G c.127C>G (p.Arg43Gly) c.535C>G (p.Arg179Gly) c.850C>G (p.Arg284Gly) | |
| 19 | g.48303995G= | CA2339831802 | ODAD1 | c.811C= (p.Arg271=) c.*519C= (n.*519C=) c.700C= (p.Arg234=) n.828C= c.127C= (p.Arg43=) c.535C= (p.Arg179=) c.850C= (p.Arg284=) | |
| 19 | g.48303995G>T | CA508033878 | ODAD1 | c.811C>A (p.Arg271=) c.*519C>A (n.*519C>A) c.700C>A (p.Arg234=) n.828C>A c.127C>A (p.Arg43=) c.535C>A (p.Arg179=) c.850C>A (p.Arg284=) | |
| 19 | g.48303996dup | CA883002086 | ODAD1 | c.811dup (p.Arg271ProfsTer12) c.*519dup (n.*519dup) c.700dup (p.Arg234ProfsTer12) n.828dup c.127dup (p.Arg43ProfsTer12) c.535dup (p.Arg179ProfsTer12) c.850dup (p.Arg284ProfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48303996G>A | CA508033879 | ODAD1 | c.810C>T (p.Asp270=) c.*518C>T (n.*518C>T) c.699C>T (p.Asp233=) n.827C>T c.126C>T (p.Asp42=) c.534C>T (p.Asp178=) c.849C>T (p.Asp283=) | |
| 19 | g.48303996G>C | CA406661785 | ODAD1 | c.810C>G (p.Asp270Glu) c.*518C>G (n.*518C>G) c.699C>G (p.Asp233Glu) n.827C>G c.126C>G (p.Asp42Glu) c.534C>G (p.Asp178Glu) c.849C>G (p.Asp283Glu) | |
| 19 | g.48303996G>T | CA406661786 | ODAD1 | c.810C>A (p.Asp270Glu) c.*518C>A (n.*518C>A) c.699C>A (p.Asp233Glu) n.827C>A c.126C>A (p.Asp42Glu) c.534C>A (p.Asp178Glu) c.849C>A (p.Asp283Glu) | |
| 19 | g.48303997T>A | CA406661788 | ODAD1 | c.809A>T (p.Asp270Val) c.*517A>T (n.*517A>T) c.698A>T (p.Asp233Val) n.826A>T c.125A>T (p.Asp42Val) c.533A>T (p.Asp178Val) c.848A>T (p.Asp283Val) | |
| 19 | g.48303997T>C | CA406661790 | ODAD1 | c.809A>G (p.Asp270Gly) c.*517A>G (n.*517A>G) c.698A>G (p.Asp233Gly) n.826A>G c.125A>G (p.Asp42Gly) c.533A>G (p.Asp178Gly) c.848A>G (p.Asp283Gly) | |
| 19 | g.48303997T>G | CA406661792 | ODAD1 | c.809A>C (p.Asp270Ala) c.*517A>C (n.*517A>C) c.698A>C (p.Asp233Ala) n.826A>C c.125A>C (p.Asp42Ala) c.533A>C (p.Asp178Ala) c.848A>C (p.Asp283Ala) | |
| 19 | g.48303998C>A | CA406661799 | ODAD1 | c.808G>T (p.Asp270Tyr) c.*516G>T (n.*516G>T) c.697G>T (p.Asp233Tyr) n.825G>T c.124G>T (p.Asp42Tyr) c.532G>T (p.Asp178Tyr) c.847G>T (p.Asp283Tyr) | |
| 19 | g.48303998C= | CA2339831803 | ODAD1 | c.808G= (p.Asp270=) c.*516G= (n.*516G=) c.697G= (p.Asp233=) n.825G= c.124G= (p.Asp42=) c.532G= (p.Asp178=) c.847G= (p.Asp283=) | |
| 19 | g.48303998C>G | CA406661795 | ODAD1 | c.808G>C (p.Asp270His) c.*516G>C (n.*516G>C) c.697G>C (p.Asp233His) n.825G>C c.124G>C (p.Asp42His) c.532G>C (p.Asp178His) c.847G>C (p.Asp283His) | |
| 19 | g.48303998C>T | CA9548958 | ODAD1 | c.808G>A (p.Asp270Asn) c.*516G>A (n.*516G>A) c.697G>A (p.Asp233Asn) n.825G>A c.124G>A (p.Asp42Asn) c.532G>A (p.Asp178Asn) c.847G>A (p.Asp283Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.48303999G>A | CA508033884 | ODAD1 | c.807C>T (p.Asn269=) c.*515C>T (n.*515C>T) c.696C>T (p.Asn232=) n.824C>T c.123C>T (p.Asn41=) c.531C>T (p.Asn177=) c.846C>T (p.Asn282=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48303999G>C | CA406661801 | ODAD1 | c.807C>G (p.Asn269Lys) c.*515C>G (n.*515C>G) c.696C>G (p.Asn232Lys) n.824C>G c.123C>G (p.Asn41Lys) c.531C>G (p.Asn177Lys) c.846C>G (p.Asn282Lys) | |
| 19 | g.48303999G= | CA2339831804 | ODAD1 | c.807C= (p.Asn269=) c.*515C= (n.*515C=) c.696C= (p.Asn232=) n.824C= c.123C= (p.Asn41=) c.531C= (p.Asn177=) c.846C= (p.Asn282=) | |
| 19 | g.48303999G>T | CA9548959 | ODAD1 | c.807C>A (p.Asn269Lys) c.*515C>A (n.*515C>A) c.696C>A (p.Asn232Lys) n.824C>A c.123C>A (p.Asn41Lys) c.531C>A (p.Asn177Lys) c.846C>A (p.Asn282Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304000T>A | CA406661805 | ODAD1 | c.806A>T (p.Asn269Ile) c.*514A>T (n.*514A>T) c.695A>T (p.Asn232Ile) n.823A>T c.122A>T (p.Asn41Ile) c.530A>T (p.Asn177Ile) c.845A>T (p.Asn282Ile) | |
| 19 | g.48304000T>C | CA406661806 | ODAD1 | c.806A>G (p.Asn269Ser) c.*514A>G (n.*514A>G) c.695A>G (p.Asn232Ser) n.823A>G c.122A>G (p.Asn41Ser) c.530A>G (p.Asn177Ser) c.845A>G (p.Asn282Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48304000T>G | CA406661809 | ODAD1 | c.806A>C (p.Asn269Thr) c.*514A>C (n.*514A>C) c.695A>C (p.Asn232Thr) n.823A>C c.122A>C (p.Asn41Thr) c.530A>C (p.Asn177Thr) c.845A>C (p.Asn282Thr) | |
| 19 | g.48304001T>A | CA406661812 | ODAD1 | c.805A>T (p.Asn269Tyr) c.*513A>T (n.*513A>T) c.694A>T (p.Asn232Tyr) n.822A>T c.121A>T (p.Asn41Tyr) c.529A>T (p.Asn177Tyr) c.844A>T (p.Asn282Tyr) | |
| 19 | g.48304001T>C | CA9548960 | ODAD1 | c.805A>G (p.Asn269Asp) c.*513A>G (n.*513A>G) c.694A>G (p.Asn232Asp) n.822A>G c.121A>G (p.Asn41Asp) c.529A>G (p.Asn177Asp) c.844A>G (p.Asn282Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48304001T>G | CA406661810 | ODAD1 | c.805A>C (p.Asn269His) c.*513A>C (n.*513A>C) c.694A>C (p.Asn232His) n.822A>C c.121A>C (p.Asn41His) c.529A>C (p.Asn177His) c.844A>C (p.Asn282His) | dbSNP gnomAD v4 |
| 19 | g.48304001T= | CA2339831805 | ODAD1 | c.805A= (p.Asn269=) c.*513A= (n.*513A=) c.694A= (p.Asn232=) n.822A= c.121A= (p.Asn41=) c.529A= (p.Asn177=) c.844A= (p.Asn282=) | |
| 19 | g.48304002G>A | CA508033887 | ODAD1 | c.804C>T (p.Asn268=) c.*512C>T (n.*512C>T) c.693C>T (p.Asn231=) n.821C>T c.120C>T (p.Asn40=) c.528C>T (p.Asn176=) c.843C>T (p.Asn281=) | |
| 19 | g.48304002G>C | CA406661815 | ODAD1 | c.804C>G (p.Asn268Lys) c.*512C>G (n.*512C>G) c.693C>G (p.Asn231Lys) n.821C>G c.120C>G (p.Asn40Lys) c.528C>G (p.Asn176Lys) c.843C>G (p.Asn281Lys) | |
| 19 | g.48304002G>T | CA406661817 | ODAD1 | c.804C>A (p.Asn268Lys) c.*512C>A (n.*512C>A) c.693C>A (p.Asn231Lys) n.821C>A c.120C>A (p.Asn40Lys) c.528C>A (p.Asn176Lys) c.843C>A (p.Asn281Lys) | |
| 19 | g.48304003T>A | CA406661820 | ODAD1 | c.803A>T (p.Asn268Ile) c.*511A>T (n.*511A>T) c.692A>T (p.Asn231Ile) n.820A>T c.119A>T (p.Asn40Ile) c.527A>T (p.Asn176Ile) c.842A>T (p.Asn281Ile) | |
| 19 | g.48304003T>C | CA406661821 | ODAD1 | c.803A>G (p.Asn268Ser) c.*511A>G (n.*511A>G) c.692A>G (p.Asn231Ser) n.820A>G c.119A>G (p.Asn40Ser) c.527A>G (p.Asn176Ser) c.842A>G (p.Asn281Ser) | |
| 19 | g.48304003T>G | CA406661823 | ODAD1 | c.803A>C (p.Asn268Thr) c.*511A>C (n.*511A>C) c.692A>C (p.Asn231Thr) n.820A>C c.119A>C (p.Asn40Thr) c.527A>C (p.Asn176Thr) c.842A>C (p.Asn281Thr) | |
| 19 | g.48304004T>A | CA406661826 | ODAD1 | c.802A>T (p.Asn268Tyr) c.*510A>T (n.*510A>T) c.691A>T (p.Asn231Tyr) n.819A>T c.118A>T (p.Asn40Tyr) c.526A>T (p.Asn176Tyr) c.841A>T (p.Asn281Tyr) | |
| 19 | g.48304004T>C | CA406661828 | ODAD1 | c.802A>G (p.Asn268Asp) c.*510A>G (n.*510A>G) c.691A>G (p.Asn231Asp) n.819A>G c.118A>G (p.Asn40Asp) c.526A>G (p.Asn176Asp) c.841A>G (p.Asn281Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48304004T>G | CA406661830 | ODAD1 | c.802A>C (p.Asn268His) c.*510A>C (n.*510A>C) c.691A>C (p.Asn231His) n.819A>C c.118A>C (p.Asn40His) c.526A>C (p.Asn176His) c.841A>C (p.Asn281His) | |
| 19 | g.48304004T= | CA2339831806 | ODAD1 | c.802A= (p.Asn268=) c.*510A= (n.*510A=) c.691A= (p.Asn231=) n.819A= c.118A= (p.Asn40=) c.526A= (p.Asn176=) c.841A= (p.Asn281=) | |
| 19 | g.48304005C>A | CA406661832 | ODAD1 | c.801G>T (p.Lys267Asn) c.*509G>T (n.*509G>T) c.690G>T (p.Lys230Asn) n.818G>T c.117G>T (p.Lys39Asn) c.525G>T (p.Lys175Asn) c.840G>T (p.Lys280Asn) | |
| 19 | g.48304005C>G | CA406661834 | ODAD1 | c.801G>C (p.Lys267Asn) c.*509G>C (n.*509G>C) c.690G>C (p.Lys230Asn) n.818G>C c.117G>C (p.Lys39Asn) c.525G>C (p.Lys175Asn) c.840G>C (p.Lys280Asn) | gnomAD v4 |
| 19 | g.48304005C>T | CA508033891 | ODAD1 | c.801G>A (p.Lys267=) c.*509G>A (n.*509G>A) c.690G>A (p.Lys230=) n.818G>A c.117G>A (p.Lys39=) c.525G>A (p.Lys175=) c.840G>A (p.Lys280=) | |
| 19 | g.48304006T>A | CA406661835 | ODAD1 | c.800A>T (p.Lys267Met) c.*508A>T (n.*508A>T) c.689A>T (p.Lys230Met) n.817A>T c.116A>T (p.Lys39Met) c.524A>T (p.Lys175Met) c.839A>T (p.Lys280Met) | |
| 19 | g.48304006T>C | CA406661837 | ODAD1 | c.800A>G (p.Lys267Arg) c.*508A>G (n.*508A>G) c.689A>G (p.Lys230Arg) n.817A>G c.116A>G (p.Lys39Arg) c.524A>G (p.Lys175Arg) c.839A>G (p.Lys280Arg) | |
| 19 | g.48304006T>G | CA406661839 | ODAD1 | c.800A>C (p.Lys267Thr) c.*508A>C (n.*508A>C) c.689A>C (p.Lys230Thr) n.817A>C c.116A>C (p.Lys39Thr) c.524A>C (p.Lys175Thr) c.839A>C (p.Lys280Thr) | |
| 19 | g.48304007T>A | CA406661840 | ODAD1 | c.799A>T (p.Lys267Ter) c.*507A>T (n.*507A>T) c.688A>T (p.Lys230Ter) n.816A>T c.115A>T (p.Lys39Ter) c.523A>T (p.Lys175Ter) c.838A>T (p.Lys280Ter) | |
| 19 | g.48304007T>C | CA309301528 | ODAD1 | c.799A>G (p.Lys267Glu) c.*507A>G (n.*507A>G) c.688A>G (p.Lys230Glu) n.816A>G c.115A>G (p.Lys39Glu) c.523A>G (p.Lys175Glu) c.838A>G (p.Lys280Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48304007T>G | CA406661841 | ODAD1 | c.799A>C (p.Lys267Gln) c.*507A>C (n.*507A>C) c.688A>C (p.Lys230Gln) n.816A>C c.115A>C (p.Lys39Gln) c.523A>C (p.Lys175Gln) c.838A>C (p.Lys280Gln) | gnomAD v4 |
| 19 | g.48304007T= | CA2339831807 | ODAD1 | c.799A= (p.Lys267=) c.*507A= (n.*507A=) c.688A= (p.Lys230=) n.816A= c.115A= (p.Lys39=) c.523A= (p.Lys175=) c.838A= (p.Lys280=) | |
| 19 | g.48304008G>A | CA309301536 | ODAD1 | c.798C>T (p.Leu266=) c.*506C>T (n.*506C>T) c.687C>T (p.Leu229=) n.815C>T c.114C>T (p.Leu38=) c.522C>T (p.Leu174=) c.837C>T (p.Leu279=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48304008G>C | CA508033892 | ODAD1 | c.798C>G (p.Leu266=) c.*506C>G (n.*506C>G) c.687C>G (p.Leu229=) n.815C>G c.114C>G (p.Leu38=) c.522C>G (p.Leu174=) c.837C>G (p.Leu279=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304008G= | CA2339831808 | ODAD1 | c.798C= (p.Leu266=) c.*506C= (n.*506C=) c.687C= (p.Leu229=) n.815C= c.114C= (p.Leu38=) c.522C= (p.Leu174=) c.837C= (p.Leu279=) | |
| 19 | g.48304008G>T | CA508033893 | ODAD1 | c.798C>A (p.Leu266=) c.*506C>A (n.*506C>A) c.687C>A (p.Leu229=) n.815C>A c.114C>A (p.Leu38=) c.522C>A (p.Leu174=) c.837C>A (p.Leu279=) | |
| 19 | g.48304009A>C | CA406661844 | ODAD1 | c.797T>G (p.Leu266Arg) c.*505T>G (n.*505T>G) c.686T>G (p.Leu229Arg) n.814T>G c.113T>G (p.Leu38Arg) c.521T>G (p.Leu174Arg) c.836T>G (p.Leu279Arg) | |
| 19 | g.48304009A>G | CA406661845 | ODAD1 | c.797T>C (p.Leu266Pro) c.*505T>C (n.*505T>C) c.686T>C (p.Leu229Pro) n.814T>C c.113T>C (p.Leu38Pro) c.521T>C (p.Leu174Pro) c.836T>C (p.Leu279Pro) | |
| 19 | g.48304009A>T | CA406661846 | ODAD1 | c.797T>A (p.Leu266His) c.*505T>A (n.*505T>A) c.686T>A (p.Leu229His) n.814T>A c.113T>A (p.Leu38His) c.521T>A (p.Leu174His) c.836T>A (p.Leu279His) | gnomAD v4 |
| 19 | g.48304010G>A | CA406661849 | ODAD1 | c.796C>T (p.Leu266Phe) c.*504C>T (n.*504C>T) c.685C>T (p.Leu229Phe) n.813C>T c.112C>T (p.Leu38Phe) c.520C>T (p.Leu174Phe) c.835C>T (p.Leu279Phe) | |
| 19 | g.48304010G>C | CA406661851 | ODAD1 | c.796C>G (p.Leu266Val) c.*504C>G (n.*504C>G) c.685C>G (p.Leu229Val) n.813C>G c.112C>G (p.Leu38Val) c.520C>G (p.Leu174Val) c.835C>G (p.Leu279Val) | |
| 19 | g.48304010G>T | CA406661853 | ODAD1 | c.796C>A (p.Leu266Ile) c.*504C>A (n.*504C>A) c.685C>A (p.Leu229Ile) n.813C>A c.112C>A (p.Leu38Ile) c.520C>A (p.Leu174Ile) c.835C>A (p.Leu279Ile) | |
| 19 | g.48304011C>A | CA406661855 | ODAD1 | c.795G>T (p.Lys265Asn) c.*503G>T (n.*503G>T) c.684G>T (p.Lys228Asn) n.812G>T c.111G>T (p.Lys37Asn) c.519G>T (p.Lys173Asn) c.834G>T (p.Lys278Asn) | |
| 19 | g.48304011C= | CA2339831809 | ODAD1 | c.795G= (p.Lys265=) c.*503G= (n.*503G=) c.684G= (p.Lys228=) n.812G= c.111G= (p.Lys37=) c.519G= (p.Lys173=) c.834G= (p.Lys278=) | |
| 19 | g.48304011C>G | CA406661857 | ODAD1 | c.795G>C (p.Lys265Asn) c.*503G>C (n.*503G>C) c.684G>C (p.Lys228Asn) n.812G>C c.111G>C (p.Lys37Asn) c.519G>C (p.Lys173Asn) c.834G>C (p.Lys278Asn) | gnomAD v4 |
| 19 | g.48304011C>T | CA508033898 | ODAD1 | c.795G>A (p.Lys265=) c.*503G>A (n.*503G>A) c.684G>A (p.Lys228=) n.812G>A c.111G>A (p.Lys37=) c.519G>A (p.Lys173=) c.834G>A (p.Lys278=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48304012T>A | CA406661859 | ODAD1 | c.794A>T (p.Lys265Met) c.*502A>T (n.*502A>T) c.683A>T (p.Lys228Met) n.811A>T c.110A>T (p.Lys37Met) c.518A>T (p.Lys173Met) c.833A>T (p.Lys278Met) | |
| 19 | g.48304012T>C | CA406661861 | ODAD1 | c.794A>G (p.Lys265Arg) c.*502A>G (n.*502A>G) c.683A>G (p.Lys228Arg) n.811A>G c.110A>G (p.Lys37Arg) c.518A>G (p.Lys173Arg) c.833A>G (p.Lys278Arg) | |
| 19 | g.48304012T>G | CA406661863 | ODAD1 | c.794A>C (p.Lys265Thr) c.*502A>C (n.*502A>C) c.683A>C (p.Lys228Thr) n.811A>C c.110A>C (p.Lys37Thr) c.518A>C (p.Lys173Thr) c.833A>C (p.Lys278Thr) | gnomAD v4 |
| 19 | g.48304013T>A | CA406661869 | ODAD1 | c.793A>T (p.Lys265Ter) c.*501A>T (n.*501A>T) c.682A>T (p.Lys228Ter) n.810A>T c.109A>T (p.Lys37Ter) c.517A>T (p.Lys173Ter) c.832A>T (p.Lys278Ter) | |
| 19 | g.48304013T>C | CA406661866 | ODAD1 | c.793A>G (p.Lys265Glu) c.*501A>G (n.*501A>G) c.682A>G (p.Lys228Glu) n.810A>G c.109A>G (p.Lys37Glu) c.517A>G (p.Lys173Glu) c.832A>G (p.Lys278Glu) | |
| 19 | g.48304013T>G | CA406661864 | ODAD1 | c.793A>C (p.Lys265Gln) c.*501A>C (n.*501A>C) c.682A>C (p.Lys228Gln) n.810A>C c.109A>C (p.Lys37Gln) c.517A>C (p.Lys173Gln) c.832A>C (p.Lys278Gln) | |
| 19 | g.48304014G>A | CA508033902 | ODAD1 | c.792C>T (p.Leu264=) c.*500C>T (n.*500C>T) c.681C>T (p.Leu227=) n.809C>T c.108C>T (p.Leu36=) c.516C>T (p.Leu172=) c.831C>T (p.Leu277=) | |
| 19 | g.48304014G>C | CA508033903 | ODAD1 | c.792C>G (p.Leu264=) c.*500C>G (n.*500C>G) c.681C>G (p.Leu227=) n.809C>G c.108C>G (p.Leu36=) c.516C>G (p.Leu172=) c.831C>G (p.Leu277=) | |
| 19 | g.48304014G>T | CA508033908 | ODAD1 | c.792C>A (p.Leu264=) c.*500C>A (n.*500C>A) c.681C>A (p.Leu227=) n.809C>A c.108C>A (p.Leu36=) c.516C>A (p.Leu172=) c.831C>A (p.Leu277=) | |
| 19 | g.48304015A>C | CA406661870 | ODAD1 | c.791T>G (p.Leu264Arg) c.*499T>G (n.*499T>G) c.680T>G (p.Leu227Arg) n.808T>G c.107T>G (p.Leu36Arg) c.515T>G (p.Leu172Arg) c.830T>G (p.Leu277Arg) | |
| 19 | g.48304015A>G | CA406661873 | ODAD1 | c.791T>C (p.Leu264Pro) c.*499T>C (n.*499T>C) c.680T>C (p.Leu227Pro) n.808T>C c.107T>C (p.Leu36Pro) c.515T>C (p.Leu172Pro) c.830T>C (p.Leu277Pro) | |
| 19 | g.48304015A>T | CA406661874 | ODAD1 | c.791T>A (p.Leu264His) c.*499T>A (n.*499T>A) c.680T>A (p.Leu227His) n.808T>A c.107T>A (p.Leu36His) c.515T>A (p.Leu172His) c.830T>A (p.Leu277His) | gnomAD v4 |
| 19 | g.48304016G>A | CA406661877 | ODAD1 | c.790C>T (p.Leu264Phe) c.*498C>T (n.*498C>T) c.679C>T (p.Leu227Phe) n.807C>T c.106C>T (p.Leu36Phe) c.514C>T (p.Leu172Phe) c.829C>T (p.Leu277Phe) | gnomAD v4 |
| 19 | g.48304016G>C | CA406661878 | ODAD1 | c.790C>G (p.Leu264Val) c.*498C>G (n.*498C>G) c.679C>G (p.Leu227Val) n.807C>G c.106C>G (p.Leu36Val) c.514C>G (p.Leu172Val) c.829C>G (p.Leu277Val) | |
| 19 | g.48304016G>T | CA406661880 | ODAD1 | c.790C>A (p.Leu264Ile) c.*498C>A (n.*498C>A) c.679C>A (p.Leu227Ile) n.807C>A c.106C>A (p.Leu36Ile) c.514C>A (p.Leu172Ile) c.829C>A (p.Leu277Ile) | COSMIC COSMIC |
| 19 | g.48304017G>A | CA309301542 | ODAD1 | c.789C>T (p.Phe263=) c.*497C>T (n.*497C>T) c.678C>T (p.Phe226=) n.806C>T c.105C>T (p.Phe35=) c.513C>T (p.Phe171=) c.828C>T (p.Phe276=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48304017G>C | CA406661883 | ODAD1 | c.789C>G (p.Phe263Leu) c.*497C>G (n.*497C>G) c.678C>G (p.Phe226Leu) n.806C>G c.105C>G (p.Phe35Leu) c.513C>G (p.Phe171Leu) c.828C>G (p.Phe276Leu) | |
| 19 | g.48304017G= | CA2339831810 | ODAD1 | c.789C= (p.Phe263=) c.*497C= (n.*497C=) c.678C= (p.Phe226=) n.806C= c.105C= (p.Phe35=) c.513C= (p.Phe171=) c.828C= (p.Phe276=) | |
| 19 | g.48304017G>T | CA406661885 | ODAD1 | c.789C>A (p.Phe263Leu) c.*497C>A (n.*497C>A) c.678C>A (p.Phe226Leu) n.806C>A c.105C>A (p.Phe35Leu) c.513C>A (p.Phe171Leu) c.828C>A (p.Phe276Leu) | |
| 19 | g.48304018A>C | CA406661887 | ODAD1 | c.788T>G (p.Phe263Cys) c.*496T>G (n.*496T>G) c.677T>G (p.Phe226Cys) n.805T>G c.104T>G (p.Phe35Cys) c.512T>G (p.Phe171Cys) c.827T>G (p.Phe276Cys) | |
| 19 | g.48304018A>G | CA406661888 | ODAD1 | c.788T>C (p.Phe263Ser) c.*496T>C (n.*496T>C) c.677T>C (p.Phe226Ser) n.805T>C c.104T>C (p.Phe35Ser) c.512T>C (p.Phe171Ser) c.827T>C (p.Phe276Ser) | |
| 19 | g.48304018A>T | CA406661889 | ODAD1 | c.788T>A (p.Phe263Tyr) c.*496T>A (n.*496T>A) c.677T>A (p.Phe226Tyr) n.805T>A c.104T>A (p.Phe35Tyr) c.512T>A (p.Phe171Tyr) c.827T>A (p.Phe276Tyr) | |
| 19 | g.48304019A= | CA2339831811 | ODAD1 | c.787T= (p.Phe263=) c.*495T= (n.*495T=) c.676T= (p.Phe226=) n.804T= c.103T= (p.Phe35=) c.511T= (p.Phe171=) c.826T= (p.Phe276=) | |
| 19 | g.48304019A>C | CA406661890 | ODAD1 | c.787T>G (p.Phe263Val) c.*495T>G (n.*495T>G) c.676T>G (p.Phe226Val) n.804T>G c.103T>G (p.Phe35Val) c.511T>G (p.Phe171Val) c.826T>G (p.Phe276Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304019A>G | CA406661893 | ODAD1 | c.787T>C (p.Phe263Leu) c.*495T>C (n.*495T>C) c.676T>C (p.Phe226Leu) n.804T>C c.103T>C (p.Phe35Leu) c.511T>C (p.Phe171Leu) c.826T>C (p.Phe276Leu) | |
| 19 | g.48304019A>T | CA406661892 | ODAD1 | c.787T>A (p.Phe263Ile) c.*495T>A (n.*495T>A) c.676T>A (p.Phe226Ile) n.804T>A c.103T>A (p.Phe35Ile) c.511T>A (p.Phe171Ile) c.826T>A (p.Phe276Ile) | |
| 19 | g.48304020G>A | CA508033914 | ODAD1 | c.786C>T (p.His262=) c.*494C>T (n.*494C>T) c.675C>T (p.His225=) n.803C>T c.102C>T (p.His34=) c.510C>T (p.His170=) c.825C>T (p.His275=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48304020G>C | CA406661895 | ODAD1 | c.786C>G (p.His262Gln) c.*494C>G (n.*494C>G) c.675C>G (p.His225Gln) n.803C>G c.102C>G (p.His34Gln) c.510C>G (p.His170Gln) c.825C>G (p.His275Gln) | |
| 19 | g.48304020G= | CA2339831812 | ODAD1 | c.786C= (p.His262=) c.*494C= (n.*494C=) c.675C= (p.His225=) n.803C= c.102C= (p.His34=) c.510C= (p.His170=) c.825C= (p.His275=) | |
| 19 | g.48304020G>T | CA406661897 | ODAD1 | c.786C>A (p.His262Gln) c.*494C>A (n.*494C>A) c.675C>A (p.His225Gln) n.803C>A c.102C>A (p.His34Gln) c.510C>A (p.His170Gln) c.825C>A (p.His275Gln) | |
| 19 | g.48304021T>A | CA9548961 | ODAD1 | c.785A>T (p.His262Leu) c.*493A>T (n.*493A>T) c.674A>T (p.His225Leu) n.802A>T c.101A>T (p.His34Leu) c.509A>T (p.His170Leu) c.824A>T (p.His275Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48304021T>C | CA9548962 | ODAD1 | c.785A>G (p.His262Arg) c.*493A>G (n.*493A>G) c.674A>G (p.His225Arg) n.802A>G c.101A>G (p.His34Arg) c.509A>G (p.His170Arg) c.824A>G (p.His275Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304021T>G | CA406661901 | ODAD1 | c.785A>C (p.His262Pro) c.*493A>C (n.*493A>C) c.674A>C (p.His225Pro) n.802A>C c.101A>C (p.His34Pro) c.509A>C (p.His170Pro) c.824A>C (p.His275Pro) | |
| 19 | g.48304021T= | CA2339831813 | ODAD1 | c.785A= (p.His262=) c.*493A= (n.*493A=) c.674A= (p.His225=) n.802A= c.101A= (p.His34=) c.509A= (p.His170=) c.824A= (p.His275=) | |
| 19 | g.48304022G>A | CA406661903 | ODAD1 | c.784C>T (p.His262Tyr) c.*492C>T (n.*492C>T) c.673C>T (p.His225Tyr) n.801C>T c.100C>T (p.His34Tyr) c.508C>T (p.His170Tyr) c.823C>T (p.His275Tyr) | |
| 19 | g.48304022G>C | CA406661905 | ODAD1 | c.784C>G (p.His262Asp) c.*492C>G (n.*492C>G) c.673C>G (p.His225Asp) n.801C>G c.100C>G (p.His34Asp) c.508C>G (p.His170Asp) c.823C>G (p.His275Asp) | |
| 19 | g.48304022G>T | CA406661907 | ODAD1 | c.784C>A (p.His262Asn) c.*492C>A (n.*492C>A) c.673C>A (p.His225Asn) n.801C>A c.100C>A (p.His34Asn) c.508C>A (p.His170Asn) c.823C>A (p.His275Asn) | |
| 19 | g.48304023G>A | CA9548963 | ODAD1 | c.783C>T (p.His261=) c.*491C>T (n.*491C>T) c.672C>T (p.His224=) n.800C>T c.99C>T (p.His33=) c.507C>T (p.His169=) c.822C>T (p.His274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304023G>C | CA406661910 | ODAD1 | c.783C>G (p.His261Gln) c.*491C>G (n.*491C>G) c.672C>G (p.His224Gln) n.800C>G c.99C>G (p.His33Gln) c.507C>G (p.His169Gln) c.822C>G (p.His274Gln) | |
| 19 | g.48304023G= | CA2339831814 | ODAD1 | c.783C= (p.His261=) c.*491C= (n.*491C=) c.672C= (p.His224=) n.800C= c.99C= (p.His33=) c.507C= (p.His169=) c.822C= (p.His274=) | |
| 19 | g.48304023G>T | CA406661912 | ODAD1 | c.783C>A (p.His261Gln) c.*491C>A (n.*491C>A) c.672C>A (p.His224Gln) n.800C>A c.99C>A (p.His33Gln) c.507C>A (p.His169Gln) c.822C>A (p.His274Gln) | |
| 19 | g.48304024T>A | CA406661915 | ODAD1 | c.782A>T (p.His261Leu) c.*490A>T (n.*490A>T) c.671A>T (p.His224Leu) n.799A>T c.98A>T (p.His33Leu) c.506A>T (p.His169Leu) c.821A>T (p.His274Leu) | |
| 19 | g.48304024T>C | CA406661917 | ODAD1 | c.782A>G (p.His261Arg) c.*490A>G (n.*490A>G) c.671A>G (p.His224Arg) n.799A>G c.98A>G (p.His33Arg) c.506A>G (p.His169Arg) c.821A>G (p.His274Arg) | |
| 19 | g.48304024T>G | CA9548964 | ODAD1 | c.782A>C (p.His261Pro) c.*490A>C (n.*490A>C) c.671A>C (p.His224Pro) n.799A>C c.98A>C (p.His33Pro) c.506A>C (p.His169Pro) c.821A>C (p.His274Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304024T= | CA2339831815 | ODAD1 | c.782A= (p.His261=) c.*490A= (n.*490A=) c.671A= (p.His224=) n.799A= c.98A= (p.His33=) c.506A= (p.His169=) c.821A= (p.His274=) | |
| 19 | g.48304025G>A | CA406661921 | ODAD1 | c.781C>T (p.His261Tyr) c.*489C>T (n.*489C>T) c.670C>T (p.His224Tyr) n.798C>T c.97C>T (p.His33Tyr) c.505C>T (p.His169Tyr) c.820C>T (p.His274Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48304025G>C | CA406661925 | ODAD1 | c.781C>G (p.His261Asp) c.*489C>G (n.*489C>G) c.670C>G (p.His224Asp) n.798C>G c.97C>G (p.His33Asp) c.505C>G (p.His169Asp) c.820C>G (p.His274Asp) | |
| 19 | g.48304025G= | CA2339831816 | ODAD1 | c.781C= (p.His261=) c.*489C= (n.*489C=) c.670C= (p.His224=) n.798C= c.97C= (p.His33=) c.505C= (p.His169=) c.820C= (p.His274=) | |
| 19 | g.48304025G>T | CA406661923 | ODAD1 | c.781C>A (p.His261Asn) c.*489C>A (n.*489C>A) c.670C>A (p.His224Asn) n.798C>A c.97C>A (p.His33Asn) c.505C>A (p.His169Asn) c.820C>A (p.His274Asn) | |
| 19 | g.48304026C>A | CA508033922 | ODAD1 | c.780G>T (p.Leu260=) c.*488G>T (n.*488G>T) c.669G>T (p.Leu223=) n.797G>T c.96G>T (p.Leu32=) c.504G>T (p.Leu168=) c.819G>T (p.Leu273=) | |
| 19 | g.48304026C= | CA2339831817 | ODAD1 | c.780G= (p.Leu260=) c.*488G= (n.*488G=) c.669G= (p.Leu223=) n.797G= c.96G= (p.Leu32=) c.504G= (p.Leu168=) c.819G= (p.Leu273=) | |
| 19 | g.48304026C>G | CA508033924 | ODAD1 | c.780G>C (p.Leu260=) c.*488G>C (n.*488G>C) c.669G>C (p.Leu223=) n.797G>C c.96G>C (p.Leu32=) c.504G>C (p.Leu168=) c.819G>C (p.Leu273=) | |
| 19 | g.48304026C>T | CA508033923 | ODAD1 | c.780G>A (p.Leu260=) c.*488G>A (n.*488G>A) c.669G>A (p.Leu223=) n.797G>A c.96G>A (p.Leu32=) c.504G>A (p.Leu168=) c.819G>A (p.Leu273=) | dbSNP gnomAD v4 |
| 19 | g.48304027A>C | CA406661927 | ODAD1 | c.779T>G (p.Leu260Arg) c.*487T>G (n.*487T>G) c.668T>G (p.Leu223Arg) n.796T>G c.95T>G (p.Leu32Arg) c.503T>G (p.Leu168Arg) c.818T>G (p.Leu273Arg) | |
| 19 | g.48304027A>G | CA406661929 | ODAD1 | c.779T>C (p.Leu260Pro) c.*487T>C (n.*487T>C) c.668T>C (p.Leu223Pro) n.796T>C c.95T>C (p.Leu32Pro) c.503T>C (p.Leu168Pro) c.818T>C (p.Leu273Pro) | |
| 19 | g.48304027A>T | CA406661931 | ODAD1 | c.779T>A (p.Leu260Gln) c.*487T>A (n.*487T>A) c.668T>A (p.Leu223Gln) n.796T>A c.95T>A (p.Leu32Gln) c.503T>A (p.Leu168Gln) c.818T>A (p.Leu273Gln) | |
| 19 | g.48304028G>A | CA508033925 | ODAD1 | c.778C>T (p.Leu260=) c.*486C>T (n.*486C>T) c.667C>T (p.Leu223=) n.795C>T c.94C>T (p.Leu32=) c.502C>T (p.Leu168=) c.817C>T (p.Leu273=) | |
| 19 | g.48304028G>C | CA406661934 | ODAD1 | c.778C>G (p.Leu260Val) c.*486C>G (n.*486C>G) c.667C>G (p.Leu223Val) n.795C>G c.94C>G (p.Leu32Val) c.502C>G (p.Leu168Val) c.817C>G (p.Leu273Val) | |
| 19 | g.48304028G>T | CA406661935 | ODAD1 | c.778C>A (p.Leu260Met) c.*486C>A (n.*486C>A) c.667C>A (p.Leu223Met) n.795C>A c.94C>A (p.Leu32Met) c.502C>A (p.Leu168Met) c.817C>A (p.Leu273Met) | |
| 19 | g.48304029C>A | CA406661937 | ODAD1 | c.777G>T (p.Gln259His) c.*485G>T (n.*485G>T) c.666G>T (p.Gln222His) n.794G>T c.93G>T (p.Gln31His) c.501G>T (p.Gln167His) c.816G>T (p.Gln272His) | |
| 19 | g.48304029C>G | CA406661939 | ODAD1 | c.777G>C (p.Gln259His) c.*485G>C (n.*485G>C) c.666G>C (p.Gln222His) n.794G>C c.93G>C (p.Gln31His) c.501G>C (p.Gln167His) c.816G>C (p.Gln272His) | |
| 19 | g.48304029C>T | CA508033930 | ODAD1 | c.777G>A (p.Gln259=) c.*485G>A (n.*485G>A) c.666G>A (p.Gln222=) n.794G>A c.93G>A (p.Gln31=) c.501G>A (p.Gln167=) c.816G>A (p.Gln272=) | |
| 19 | g.48304030T>A | CA406661941 | ODAD1 | c.776A>T (p.Gln259Leu) c.*484A>T (n.*484A>T) c.665A>T (p.Gln222Leu) n.793A>T c.92A>T (p.Gln31Leu) c.500A>T (p.Gln167Leu) c.815A>T (p.Gln272Leu) | |
| 19 | g.48304030T>C | CA406661942 | ODAD1 | c.776A>G (p.Gln259Arg) c.*484A>G (n.*484A>G) c.665A>G (p.Gln222Arg) n.793A>G c.92A>G (p.Gln31Arg) c.500A>G (p.Gln167Arg) c.815A>G (p.Gln272Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48304030T>G | CA406661950 | ODAD1 | c.776A>C (p.Gln259Pro) c.*484A>C (n.*484A>C) c.665A>C (p.Gln222Pro) n.793A>C c.92A>C (p.Gln31Pro) c.500A>C (p.Gln167Pro) c.815A>C (p.Gln272Pro) | |
| 19 | g.48304030T= | CA2339831818 | ODAD1 | c.776A= (p.Gln259=) c.*484A= (n.*484A=) c.665A= (p.Gln222=) n.793A= c.92A= (p.Gln31=) c.500A= (p.Gln167=) c.815A= (p.Gln272=) | |
| 19 | g.48304031G>A | CA406661955 | ODAD1 | c.775C>T (p.Gln259Ter) c.*483C>T (n.*483C>T) c.664C>T (p.Gln222Ter) n.792C>T c.91C>T (p.Gln31Ter) c.499C>T (p.Gln167Ter) c.814C>T (p.Gln272Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48304031G>C | CA406661957 | ODAD1 | c.775C>G (p.Gln259Glu) c.*483C>G (n.*483C>G) c.664C>G (p.Gln222Glu) n.792C>G c.91C>G (p.Gln31Glu) c.499C>G (p.Gln167Glu) c.814C>G (p.Gln272Glu) | |
| 19 | g.48304031G= | CA2339831819 | ODAD1 | c.775C= (p.Gln259=) c.*483C= (n.*483C=) c.664C= (p.Gln222=) n.792C= c.91C= (p.Gln31=) c.499C= (p.Gln167=) c.814C= (p.Gln272=) | |
| 19 | g.48304031G>T | CA406661952 | ODAD1 | c.775C>A (p.Gln259Lys) c.*483C>A (n.*483C>A) c.664C>A (p.Gln222Lys) n.792C>A c.91C>A (p.Gln31Lys) c.499C>A (p.Gln167Lys) c.814C>A (p.Gln272Lys) | |
| 19 | g.48304032C>A | CA406661959 | ODAD1 | c.774G>T (p.Glu258Asp) c.*482G>T (n.*482G>T) c.663G>T (p.Glu221Asp) n.791G>T c.90G>T (p.Glu30Asp) c.498G>T (p.Glu166Asp) c.813G>T (p.Glu271Asp) | |
| 19 | g.48304032C= | CA2339831820 | ODAD1 | c.774G= (p.Glu258=) c.*482G= (n.*482G=) c.663G= (p.Glu221=) n.791G= c.90G= (p.Glu30=) c.498G= (p.Glu166=) c.813G= (p.Glu271=) | |
| 19 | g.48304032C>G | CA406661961 | ODAD1 | c.774G>C (p.Glu258Asp) c.*482G>C (n.*482G>C) c.663G>C (p.Glu221Asp) n.791G>C c.90G>C (p.Glu30Asp) c.498G>C (p.Glu166Asp) c.813G>C (p.Glu271Asp) | |
| 19 | g.48304032C>T | CA9548965 | ODAD1 | c.774G>A (p.Glu258=) c.*482G>A (n.*482G>A) c.663G>A (p.Glu221=) n.791G>A c.90G>A (p.Glu30=) c.498G>A (p.Glu166=) c.813G>A (p.Glu271=) | dbSNP ExAC gnomAD v4 |
| 19 | g.48304033T>A | CA406661965 | ODAD1 | c.773A>T (p.Glu258Val) c.*481A>T (n.*481A>T) c.662A>T (p.Glu221Val) n.790A>T c.89A>T (p.Glu30Val) c.497A>T (p.Glu166Val) c.812A>T (p.Glu271Val) | |
| 19 | g.48304033T>C | CA406661968 | ODAD1 | c.773A>G (p.Glu258Gly) c.*481A>G (n.*481A>G) c.662A>G (p.Glu221Gly) n.790A>G c.89A>G (p.Glu30Gly) c.497A>G (p.Glu166Gly) c.812A>G (p.Glu271Gly) | |
| 19 | g.48304033T>G | CA406661969 | ODAD1 | c.773A>C (p.Glu258Ala) c.*481A>C (n.*481A>C) c.662A>C (p.Glu221Ala) n.790A>C c.89A>C (p.Glu30Ala) c.497A>C (p.Glu166Ala) c.812A>C (p.Glu271Ala) | |
| 19 | g.48304034C>A | CA406661972 | ODAD1 | c.772G>T (p.Glu258Ter) c.*480G>T (n.*480G>T) c.661G>T (p.Glu221Ter) n.789G>T c.88G>T (p.Glu30Ter) c.496G>T (p.Glu166Ter) c.811G>T (p.Glu271Ter) | |
| 19 | g.48304034C= | CA2339831821 | ODAD1 | c.772G= (p.Glu258=) c.*480G= (n.*480G=) c.661G= (p.Glu221=) n.789G= c.88G= (p.Glu30=) c.496G= (p.Glu166=) c.811G= (p.Glu271=) | |
| 19 | g.48304034C>G | CA406661975 | ODAD1 | c.772G>C (p.Glu258Gln) c.*480G>C (n.*480G>C) c.661G>C (p.Glu221Gln) n.789G>C c.88G>C (p.Glu30Gln) c.496G>C (p.Glu166Gln) c.811G>C (p.Glu271Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48304034C>T | CA406661976 | ODAD1 | c.772G>A (p.Glu258Lys) c.*480G>A (n.*480G>A) c.661G>A (p.Glu221Lys) n.789G>A c.88G>A (p.Glu30Lys) c.496G>A (p.Glu166Lys) c.811G>A (p.Glu271Lys) | gnomAD v4 |
| 19 | g.48304035C>A | CA508033933 | ODAD1 | c.771G>T (p.Leu257=) c.*479G>T (n.*479G>T) c.660G>T (p.Leu220=) n.788G>T c.87G>T (p.Leu29=) c.495G>T (p.Leu165=) c.810G>T (p.Leu270=) | |
| 19 | g.48304035C>G | CA508033935 | ODAD1 | c.771G>C (p.Leu257=) c.*479G>C (n.*479G>C) c.660G>C (p.Leu220=) n.788G>C c.87G>C (p.Leu29=) c.495G>C (p.Leu165=) c.810G>C (p.Leu270=) | |
| 19 | g.48304035C>T | CA508033936 | ODAD1 | c.771G>A (p.Leu257=) c.*479G>A (n.*479G>A) c.660G>A (p.Leu220=) n.788G>A c.87G>A (p.Leu29=) c.495G>A (p.Leu165=) c.810G>A (p.Leu270=) | |
| 19 | g.48304036A>C | CA406661978 | ODAD1 | c.770T>G (p.Leu257Arg) c.*478T>G (n.*478T>G) c.659T>G (p.Leu220Arg) n.787T>G c.86T>G (p.Leu29Arg) c.494T>G (p.Leu165Arg) c.809T>G (p.Leu270Arg) | |
| 19 | g.48304036A>G | CA406661979 | ODAD1 | c.770T>C (p.Leu257Pro) c.*478T>C (n.*478T>C) c.659T>C (p.Leu220Pro) n.787T>C c.86T>C (p.Leu29Pro) c.494T>C (p.Leu165Pro) c.809T>C (p.Leu270Pro) | |
| 19 | g.48304036A>T | CA406661980 | ODAD1 | c.770T>A (p.Leu257Gln) c.*478T>A (n.*478T>A) c.659T>A (p.Leu220Gln) n.787T>A c.86T>A (p.Leu29Gln) c.494T>A (p.Leu165Gln) c.809T>A (p.Leu270Gln) | |
| 19 | g.48304037G>A | CA508033938 | ODAD1 | c.769C>T (p.Leu257=) c.*477C>T (n.*477C>T) c.658C>T (p.Leu220=) n.786C>T c.85C>T (p.Leu29=) c.493C>T (p.Leu165=) c.808C>T (p.Leu270=) | |
| 19 | g.48304037G>C | CA406661983 | ODAD1 | c.769C>G (p.Leu257Val) c.*477C>G (n.*477C>G) c.658C>G (p.Leu220Val) n.786C>G c.85C>G (p.Leu29Val) c.493C>G (p.Leu165Val) c.808C>G (p.Leu270Val) | |
| 19 | g.48304037G>T | CA406661985 | ODAD1 | c.769C>A (p.Leu257Met) c.*477C>A (n.*477C>A) c.658C>A (p.Leu220Met) n.786C>A c.85C>A (p.Leu29Met) c.493C>A (p.Leu165Met) c.808C>A (p.Leu270Met) | |
| 19 | g.48304038G>A | CA309301587 | ODAD1 | c.768C>T (p.His256=) c.*476C>T (n.*476C>T) c.657C>T (p.His219=) n.785C>T c.84C>T (p.His28=) c.492C>T (p.His164=) c.807C>T (p.His269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304038G>C | CA406661987 | ODAD1 | c.768C>G (p.His256Gln) c.*476C>G (n.*476C>G) c.657C>G (p.His219Gln) n.785C>G c.84C>G (p.His28Gln) c.492C>G (p.His164Gln) c.807C>G (p.His269Gln) | |
| 19 | g.48304038G= | CA2339831822 | ODAD1 | c.768C= (p.His256=) c.*476C= (n.*476C=) c.657C= (p.His219=) n.785C= c.84C= (p.His28=) c.492C= (p.His164=) c.807C= (p.His269=) | |
| 19 | g.48304038G>T | CA406661989 | ODAD1 | c.768C>A (p.His256Gln) c.*476C>A (n.*476C>A) c.657C>A (p.His219Gln) n.785C>A c.84C>A (p.His28Gln) c.492C>A (p.His164Gln) c.807C>A (p.His269Gln) | COSMIC COSMIC |
| 19 | g.48304039T>A | CA406661991 | ODAD1 | c.767A>T (p.His256Leu) c.*475A>T (n.*475A>T) c.656A>T (p.His219Leu) n.784A>T c.83A>T (p.His28Leu) c.491A>T (p.His164Leu) c.806A>T (p.His269Leu) | |
| 19 | g.48304039T>C | CA406661994 | ODAD1 | c.767A>G (p.His256Arg) c.*475A>G (n.*475A>G) c.656A>G (p.His219Arg) n.784A>G c.83A>G (p.His28Arg) c.491A>G (p.His164Arg) c.806A>G (p.His269Arg) | |
| 19 | g.48304039T>G | CA406661996 | ODAD1 | c.767A>C (p.His256Pro) c.*475A>C (n.*475A>C) c.656A>C (p.His219Pro) n.784A>C c.83A>C (p.His28Pro) c.491A>C (p.His164Pro) c.806A>C (p.His269Pro) | dbSNP gnomAD v4 |
| 19 | g.48304039T= | CA2339831823 | ODAD1 | c.767A= (p.His256=) c.*475A= (n.*475A=) c.656A= (p.His219=) n.784A= c.83A= (p.His28=) c.491A= (p.His164=) c.806A= (p.His269=) | |
| 19 | g.48304040G>A | CA9548966 | ODAD1 | c.766C>T (p.His256Tyr) c.*474C>T (n.*474C>T) c.655C>T (p.His219Tyr) n.783C>T c.82C>T (p.His28Tyr) c.490C>T (p.His164Tyr) c.805C>T (p.His269Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304040G>C | CA406661999 | ODAD1 | c.766C>G (p.His256Asp) c.*474C>G (n.*474C>G) c.655C>G (p.His219Asp) n.783C>G c.82C>G (p.His28Asp) c.490C>G (p.His164Asp) c.805C>G (p.His269Asp) | |
| 19 | g.48304040G= | CA2339831824 | ODAD1 | c.766C= (p.His256=) c.*474C= (n.*474C=) c.655C= (p.His219=) n.783C= c.82C= (p.His28=) c.490C= (p.His164=) c.805C= (p.His269=) | |
| 19 | g.48304040G>T | CA406662001 | ODAD1 | c.766C>A (p.His256Asn) c.*474C>A (n.*474C>A) c.655C>A (p.His219Asn) n.783C>A c.82C>A (p.His28Asn) c.490C>A (p.His164Asn) c.805C>A (p.His269Asn) | |
| 19 | g.48304041C>A | CA406662003 | ODAD1 | c.765G>T (p.Leu255Phe) c.*473G>T (n.*473G>T) c.654G>T (p.Leu218Phe) n.782G>T c.81G>T (p.Leu27Phe) c.489G>T (p.Leu163Phe) c.804G>T (p.Leu268Phe) | |
| 19 | g.48304041C>G | CA406662005 | ODAD1 | c.765G>C (p.Leu255Phe) c.*473G>C (n.*473G>C) c.654G>C (p.Leu218Phe) n.782G>C c.81G>C (p.Leu27Phe) c.489G>C (p.Leu163Phe) c.804G>C (p.Leu268Phe) | |
| 19 | g.48304041C>T | CA508033941 | ODAD1 | c.765G>A (p.Leu255=) c.*473G>A (n.*473G>A) c.654G>A (p.Leu218=) n.782G>A c.81G>A (p.Leu27=) c.489G>A (p.Leu163=) c.804G>A (p.Leu268=) | |
| 19 | g.48304042A>C | CA406662007 | ODAD1 | c.764T>G (p.Leu255Trp) c.*472T>G (n.*472T>G) c.653T>G (p.Leu218Trp) n.781T>G c.80T>G (p.Leu27Trp) c.488T>G (p.Leu163Trp) c.803T>G (p.Leu268Trp) | gnomAD v4 |
| 19 | g.48304042A>G | CA406662009 | ODAD1 | c.764T>C (p.Leu255Ser) c.*472T>C (n.*472T>C) c.653T>C (p.Leu218Ser) n.781T>C c.80T>C (p.Leu27Ser) c.488T>C (p.Leu163Ser) c.803T>C (p.Leu268Ser) | dbSNP |
| 19 | g.48304042A>T | CA406662010 | ODAD1 | c.764T>A (p.Leu255Ter) c.*472T>A (n.*472T>A) c.653T>A (p.Leu218Ter) n.781T>A c.80T>A (p.Leu27Ter) c.488T>A (p.Leu163Ter) c.803T>A (p.Leu268Ter) | |
| 19 | g.48304043A>C | CA406662013 | ODAD1 | c.763T>G (p.Leu255Val) c.*471T>G (n.*471T>G) c.652T>G (p.Leu218Val) n.780T>G c.79T>G (p.Leu27Val) c.487T>G (p.Leu163Val) c.802T>G (p.Leu268Val) | gnomAD v4 |
| 19 | g.48304043A>G | CA508033947 | ODAD1 | c.763T>C (p.Leu255=) c.*471T>C (n.*471T>C) c.652T>C (p.Leu218=) n.780T>C c.79T>C (p.Leu27=) c.487T>C (p.Leu163=) c.802T>C (p.Leu268=) | |
| 19 | g.48304043A>T | CA406662015 | ODAD1 | c.763T>A (p.Leu255Met) c.*471T>A (n.*471T>A) c.652T>A (p.Leu218Met) n.780T>A c.79T>A (p.Leu27Met) c.487T>A (p.Leu163Met) c.802T>A (p.Leu268Met) | |
| 19 | g.48304044G>A | CA508033949 | ODAD1 | c.762C>T (p.Ile254=) c.*470C>T (n.*470C>T) c.651C>T (p.Ile217=) n.779C>T c.78C>T (p.Ile26=) c.486C>T (p.Ile162=) c.801C>T (p.Ile267=) | |
| 19 | g.48304044G>C | CA309301609 | ODAD1 | c.762C>G (p.Ile254Met) c.*470C>G (n.*470C>G) c.651C>G (p.Ile217Met) n.779C>G c.78C>G (p.Ile26Met) c.486C>G (p.Ile162Met) c.801C>G (p.Ile267Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48304044G= | CA2339831825 | ODAD1 | c.762C= (p.Ile254=) c.*470C= (n.*470C=) c.651C= (p.Ile217=) n.779C= c.78C= (p.Ile26=) c.486C= (p.Ile162=) c.801C= (p.Ile267=) | |
| 19 | g.48304044G>T | CA508033950 | ODAD1 | c.762C>A (p.Ile254=) c.*470C>A (n.*470C>A) c.651C>A (p.Ile217=) n.779C>A c.78C>A (p.Ile26=) c.486C>A (p.Ile162=) c.801C>A (p.Ile267=) | |
| 19 | g.48304045A>C | CA406662021 | ODAD1 | c.761T>G (p.Ile254Ser) c.*469T>G (n.*469T>G) c.650T>G (p.Ile217Ser) n.778T>G c.77T>G (p.Ile26Ser) c.485T>G (p.Ile162Ser) c.800T>G (p.Ile267Ser) | |
| 19 | g.48304045A>G | CA406662019 | ODAD1 | c.761T>C (p.Ile254Thr) c.*469T>C (n.*469T>C) c.650T>C (p.Ile217Thr) n.778T>C c.77T>C (p.Ile26Thr) c.485T>C (p.Ile162Thr) c.800T>C (p.Ile267Thr) | |
| 19 | g.48304045A>T | CA406662023 | ODAD1 | c.761T>A (p.Ile254Asn) c.*469T>A (n.*469T>A) c.650T>A (p.Ile217Asn) n.778T>A c.77T>A (p.Ile26Asn) c.485T>A (p.Ile162Asn) c.800T>A (p.Ile267Asn) | |
| 19 | g.48304046T>A | CA406662026 | ODAD1 | c.760A>T (p.Ile254Phe) c.*468A>T (n.*468A>T) c.649A>T (p.Ile217Phe) n.777A>T c.76A>T (p.Ile26Phe) c.484A>T (p.Ile162Phe) c.799A>T (p.Ile267Phe) | |
| 19 | g.48304046T>C | CA406662029 | ODAD1 | c.760A>G (p.Ile254Val) c.*468A>G (n.*468A>G) c.649A>G (p.Ile217Val) n.777A>G c.76A>G (p.Ile26Val) c.484A>G (p.Ile162Val) c.799A>G (p.Ile267Val) | |
| 19 | g.48304046T>G | CA406662027 | ODAD1 | c.760A>C (p.Ile254Leu) c.*468A>C (n.*468A>C) c.649A>C (p.Ile217Leu) n.777A>C c.76A>C (p.Ile26Leu) c.484A>C (p.Ile162Leu) c.799A>C (p.Ile267Leu) | |
| 19 | g.48304047C>A | CA406662031 | ODAD1 | c.759G>T (p.Gln253His) c.*467G>T (n.*467G>T) c.648G>T (p.Gln216His) n.776G>T c.75G>T (p.Gln25His) c.483G>T (p.Gln161His) c.798G>T (p.Gln266His) | |
| 19 | g.48304047C>G | CA406662032 | ODAD1 | c.759G>C (p.Gln253His) c.*467G>C (n.*467G>C) c.648G>C (p.Gln216His) n.776G>C c.75G>C (p.Gln25His) c.483G>C (p.Gln161His) c.798G>C (p.Gln266His) | gnomAD v4 |
| 19 | g.48304047C>T | CA508033952 | ODAD1 | c.759G>A (p.Gln253=) c.*467G>A (n.*467G>A) c.648G>A (p.Gln216=) n.776G>A c.75G>A (p.Gln25=) c.483G>A (p.Gln161=) c.798G>A (p.Gln266=) | |
| 19 | g.48304051_48304065del | CA2586173009 | ODAD1 | c.745_759del (p.Val249_Gln253del) c.*453_*467del (n.*453_*467del) c.634_648del (p.Val212_Gln216del) n.762_776del c.61_75del (p.Val21_Gln25del) c.469_483del (p.Val157_Gln161del) c.784_798del (p.Val262_Gln266del) | gnomAD v4 |
| 19 | g.48304048T>A | CA406662035 | ODAD1 | c.758A>T (p.Gln253Leu) c.*466A>T (n.*466A>T) c.647A>T (p.Gln216Leu) n.775A>T c.74A>T (p.Gln25Leu) c.482A>T (p.Gln161Leu) c.797A>T (p.Gln266Leu) | |
| 19 | g.48304048T>C | CA406662038 | ODAD1 | c.758A>G (p.Gln253Arg) c.*466A>G (n.*466A>G) c.647A>G (p.Gln216Arg) n.775A>G c.74A>G (p.Gln25Arg) c.482A>G (p.Gln161Arg) c.797A>G (p.Gln266Arg) | |
| 19 | g.48304048T>G | CA406662036 | ODAD1 | c.758A>C (p.Gln253Pro) c.*466A>C (n.*466A>C) c.647A>C (p.Gln216Pro) n.775A>C c.74A>C (p.Gln25Pro) c.482A>C (p.Gln161Pro) c.797A>C (p.Gln266Pro) | |
| 19 | g.48304049G>A | CA406662039 | ODAD1 | c.757C>T (p.Gln253Ter) c.*465C>T (n.*465C>T) c.646C>T (p.Gln216Ter) n.774C>T c.73C>T (p.Gln25Ter) c.481C>T (p.Gln161Ter) c.796C>T (p.Gln266Ter) | |
| 19 | g.48304049G>C | CA406662041 | ODAD1 | c.757C>G (p.Gln253Glu) c.*465C>G (n.*465C>G) c.646C>G (p.Gln216Glu) n.774C>G c.73C>G (p.Gln25Glu) c.481C>G (p.Gln161Glu) c.796C>G (p.Gln266Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48304049G= | CA2339831826 | ODAD1 | c.757C= (p.Gln253=) c.*465C= (n.*465C=) c.646C= (p.Gln216=) n.774C= c.73C= (p.Gln25=) c.481C= (p.Gln161=) c.796C= (p.Gln266=) | |
| 19 | g.48304049G>T | CA406662043 | ODAD1 | c.757C>A (p.Gln253Lys) c.*465C>A (n.*465C>A) c.646C>A (p.Gln216Lys) n.774C>A c.73C>A (p.Gln25Lys) c.481C>A (p.Gln161Lys) c.796C>A (p.Gln266Lys) | |
| 19 | g.48304050C>A | CA508033959 | ODAD1 | c.756G>T (p.Arg252=) c.*464G>T (n.*464G>T) c.645G>T (p.Arg215=) n.773G>T c.72G>T (p.Arg24=) c.480G>T (p.Arg160=) c.795G>T (p.Arg265=) | |
| 19 | g.48304050C>G | CA508033960 | ODAD1 | c.756G>C (p.Arg252=) c.*464G>C (n.*464G>C) c.645G>C (p.Arg215=) n.773G>C c.72G>C (p.Arg24=) c.480G>C (p.Arg160=) c.795G>C (p.Arg265=) | |
| 19 | g.48304050C>T | CA508033961 | ODAD1 | c.756G>A (p.Arg252=) c.*464G>A (n.*464G>A) c.645G>A (p.Arg215=) n.773G>A c.72G>A (p.Arg24=) c.480G>A (p.Arg160=) c.795G>A (p.Arg265=) | |
| 19 | g.48304051C>A | CA406662045 | ODAD1 | c.755G>T (p.Arg252Leu) c.*463G>T (n.*463G>T) c.644G>T (p.Arg215Leu) n.772G>T c.71G>T (p.Arg24Leu) c.479G>T (p.Arg160Leu) c.794G>T (p.Arg265Leu) | gnomAD v4 |
| 19 | g.48304051C= | CA2339831827 | ODAD1 | c.755G= (p.Arg252=) c.*463G= (n.*463G=) c.644G= (p.Arg215=) n.772G= c.71G= (p.Arg24=) c.479G= (p.Arg160=) c.794G= (p.Arg265=) | |
| 19 | g.48304051C>G | CA9548967 | ODAD1 | c.755G>C (p.Arg252Pro) c.*463G>C (n.*463G>C) c.644G>C (p.Arg215Pro) n.772G>C c.71G>C (p.Arg24Pro) c.479G>C (p.Arg160Pro) c.794G>C (p.Arg265Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48304051C>T | CA309301620 | ODAD1 | c.755G>A (p.Arg252Gln) c.*463G>A (n.*463G>A) c.644G>A (p.Arg215Gln) n.772G>A c.71G>A (p.Arg24Gln) c.479G>A (p.Arg160Gln) c.794G>A (p.Arg265Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.48304052G>A | CA9548968 | ODAD1 | c.754C>T (p.Arg252Trp) c.*462C>T (n.*462C>T) c.643C>T (p.Arg215Trp) n.771C>T c.70C>T (p.Arg24Trp) c.478C>T (p.Arg160Trp) c.793C>T (p.Arg265Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48304052G>C | CA406662051 | ODAD1 | c.754C>G (p.Arg252Gly) c.*462C>G (n.*462C>G) c.643C>G (p.Arg215Gly) n.771C>G c.70C>G (p.Arg24Gly) c.478C>G (p.Arg160Gly) c.793C>G (p.Arg265Gly) | |
| 19 | g.48304052G= | CA2339831828 | ODAD1 | c.754C= (p.Arg252=) c.*462C= (n.*462C=) c.643C= (p.Arg215=) n.771C= c.70C= (p.Arg24=) c.478C= (p.Arg160=) c.793C= (p.Arg265=) | |
| 19 | g.48304052G>T | CA508033963 | ODAD1 | c.754C>A (p.Arg252=) c.*462C>A (n.*462C>A) c.643C>A (p.Arg215=) n.771C>A c.70C>A (p.Arg24=) c.478C>A (p.Arg160=) c.793C>A (p.Arg265=) | |
| 19 | g.48304053C>A | CA406662053 | ODAD1 | c.753G>T (p.Gln251His) c.*461G>T (n.*461G>T) c.642G>T (p.Gln214His) n.770G>T c.69G>T (p.Gln23His) c.477G>T (p.Gln159His) c.792G>T (p.Gln264His) | |
| 19 | g.48304053C>G | CA406662055 | ODAD1 | c.753G>C (p.Gln251His) c.*461G>C (n.*461G>C) c.642G>C (p.Gln214His) n.770G>C c.69G>C (p.Gln23His) c.477G>C (p.Gln159His) c.792G>C (p.Gln264His) | |
| 19 | g.48304053C>T | CA508033965 | ODAD1 | c.753G>A (p.Gln251=) c.*461G>A (n.*461G>A) c.642G>A (p.Gln214=) n.770G>A c.69G>A (p.Gln23=) c.477G>A (p.Gln159=) c.792G>A (p.Gln264=) |