| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.54650442G>A | CA9916719 | DOK5 | c.884G>A (p.Arg295Gln) c.560G>A (p.Arg187Gln) c.848G>A (p.Arg283Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.54650442G>C | CA409691559 | DOK5 | c.884G>C (p.Arg295Pro) c.560G>C (p.Arg187Pro) c.848G>C (p.Arg283Pro) | |
| 20 | g.54650442G= | CA2370487844 | DOK5 | c.884G= (p.Arg295=) c.560G= (p.Arg187=) c.848G= (p.Arg283=) | |
| 20 | g.54650442G>T | CA409691560 | DOK5 | c.884G>T (p.Arg295Leu) c.560G>T (p.Arg187Leu) c.848G>T (p.Arg283Leu) | gnomAD v4 |
| 20 | g.54650443A>C | CA510995034 | DOK5 | c.885A>C (p.Arg295=) c.561A>C (p.Arg187=) c.849A>C (p.Arg283=) | |
| 20 | g.54650443A>G | CA510995035 | DOK5 | c.885A>G (p.Arg295=) c.561A>G (p.Arg187=) c.849A>G (p.Arg283=) | |
| 20 | g.54650443A>T | CA510995036 | DOK5 | c.885A>T (p.Arg295=) c.561A>T (p.Arg187=) c.849A>T (p.Arg283=) | |
| 20 | g.54650444A>C | CA409691561 | DOK5 | c.886A>C (p.Thr296Pro) c.562A>C (p.Thr188Pro) c.850A>C (p.Thr284Pro) | |
| 20 | g.54650444A>G | CA409691562 | DOK5 | c.886A>G (p.Thr296Ala) c.562A>G (p.Thr188Ala) c.850A>G (p.Thr284Ala) | gnomAD v4 |
| 20 | g.54650444A>T | CA409691563 | DOK5 | c.886A>T (p.Thr296Ser) c.562A>T (p.Thr188Ser) c.850A>T (p.Thr284Ser) | |
| 20 | g.54650445C>A | CA409691566 | DOK5 | c.887C>A (p.Thr296Lys) c.563C>A (p.Thr188Lys) c.851C>A (p.Thr284Lys) | |
| 20 | g.54650445C>G | CA409691565 | DOK5 | c.887C>G (p.Thr296Arg) c.563C>G (p.Thr188Arg) c.851C>G (p.Thr284Arg) | |
| 20 | g.54650445C>T | CA409691564 | DOK5 | c.887C>T (p.Thr296Ile) c.563C>T (p.Thr188Ile) c.851C>T (p.Thr284Ile) | |
| 20 | g.54650446A>C | CA510995037 | DOK5 | c.888A>C (p.Thr296=) c.564A>C (p.Thr188=) c.852A>C (p.Thr284=) | |
| 20 | g.54650446A>G | CA510995039 | DOK5 | c.888A>G (p.Thr296=) c.564A>G (p.Thr188=) c.852A>G (p.Thr284=) | |
| 20 | g.54650446A>T | CA510995038 | DOK5 | c.888A>T (p.Thr296=) c.564A>T (p.Thr188=) c.852A>T (p.Thr284=) | gnomAD v4 |
| 20 | g.54650447G>A | CA409691567 | DOK5 | c.889G>A (p.Glu297Lys) c.565G>A (p.Glu189Lys) c.853G>A (p.Glu285Lys) | |
| 20 | g.54650447G>C | CA409691568 | DOK5 | c.889G>C (p.Glu297Gln) c.565G>C (p.Glu189Gln) c.853G>C (p.Glu285Gln) | gnomAD v4 |
| 20 | g.54650447G>T | CA409691569 | DOK5 | c.889G>T (p.Glu297Ter) c.565G>T (p.Glu189Ter) c.853G>T (p.Glu285Ter) | |
| 20 | g.54650448A= | CA2370487845 | DOK5 | c.890A= (p.Glu297=) c.566A= (p.Glu189=) c.854A= (p.Glu285=) | |
| 20 | g.54650448A>C | CA409691570 | DOK5 | c.890A>C (p.Glu297Ala) c.566A>C (p.Glu189Ala) c.854A>C (p.Glu285Ala) | |
| 20 | g.54650448A>G | CA409691571 | DOK5 | c.890A>G (p.Glu297Gly) c.566A>G (p.Glu189Gly) c.854A>G (p.Glu285Gly) | |
| 20 | g.54650448A>T | CA409691572 | DOK5 | c.890A>T (p.Glu297Val) c.566A>T (p.Glu189Val) c.854A>T (p.Glu285Val) | gnomAD v4 |
| 20 | g.54650449G>A | CA510995040 | DOK5 | c.891G>A (p.Glu297=) c.567G>A (p.Glu189=) c.855G>A (p.Glu285=) | |
| 20 | g.54650449G>C | CA409691573 | DOK5 | c.891G>C (p.Glu297Asp) c.567G>C (p.Glu189Asp) c.855G>C (p.Glu285Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650449G= | CA2370487846 | DOK5 | c.891G= (p.Glu297=) c.567G= (p.Glu189=) c.855G= (p.Glu285=) | |
| 20 | g.54650449G>T | CA409691574 | DOK5 | c.891G>T (p.Glu297Asp) c.567G>T (p.Glu189Asp) c.855G>T (p.Glu285Asp) | |
| 20 | g.54650449dup | CA9916720 | DOK5 | c.891dup (p.Thr298AspfsTer8) c.567dup (p.Thr190AspfsTer8) c.855dup (p.Thr286AspfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650450A>C | CA409691575 | DOK5 | c.892A>C (p.Thr298Pro) c.568A>C (p.Thr190Pro) c.856A>C (p.Thr286Pro) | |
| 20 | g.54650450A>G | CA409691576 | DOK5 | c.892A>G (p.Thr298Ala) c.568A>G (p.Thr190Ala) c.856A>G (p.Thr286Ala) | |
| 20 | g.54650450A>T | CA409691577 | DOK5 | c.892A>T (p.Thr298Ser) c.568A>T (p.Thr190Ser) c.856A>T (p.Thr286Ser) | |
| 20 | g.54650451C>A | CA409691578 | DOK5 | c.893C>A (p.Thr298Asn) c.569C>A (p.Thr190Asn) c.857C>A (p.Thr286Asn) | |
| 20 | g.54650451C>G | CA409691580 | DOK5 | c.893C>G (p.Thr298Ser) c.569C>G (p.Thr190Ser) c.857C>G (p.Thr286Ser) | |
| 20 | g.54650451C>T | CA409691579 | DOK5 | c.893C>T (p.Thr298Ile) c.569C>T (p.Thr190Ile) c.857C>T (p.Thr286Ile) | |
| 20 | g.54650451_54650453delinsCTT | CA2370487847 | DOK5 | c.893_895delinsCTT (p.Thr298=) c.569_571delinsCTT (p.Thr190=) c.857_859delinsCTT (p.Thr286=) | |
| 20 | g.54650452T>A | CA510995041 | DOK5 | c.894T>A (p.Thr298=) c.570T>A (p.Thr190=) c.858T>A (p.Thr286=) | |
| 20 | g.54650452T>C | CA510995043 | DOK5 | c.894T>C (p.Thr298=) c.570T>C (p.Thr190=) c.858T>C (p.Thr286=) | |
| 20 | g.54650452T>G | CA510995042 | DOK5 | c.894T>G (p.Thr298=) c.570T>G (p.Thr190=) c.858T>G (p.Thr286=) | |
| 20 | g.54650454_54650455del | CA636385476 | DOK5 | c.896_897del (p.Phe299SerfsTer6) c.572_573del (p.Phe191SerfsTer6) c.860_861del (p.Phe287SerfsTer6) | dbSNP gnomAD v2 |
| 20 | g.54650453T>A | CA409691581 | DOK5 | c.895T>A (p.Phe299Ile) c.571T>A (p.Phe191Ile) c.859T>A (p.Phe287Ile) | |
| 20 | g.54650453T>C | CA409691583 | DOK5 | c.895T>C (p.Phe299Leu) c.571T>C (p.Phe191Leu) c.859T>C (p.Phe287Leu) | gnomAD v4 |
| 20 | g.54650453T>G | CA409691582 | DOK5 | c.895T>G (p.Phe299Val) c.571T>G (p.Phe191Val) c.859T>G (p.Phe287Val) | |
| 20 | g.54650454T>A | CA409691584 | DOK5 | c.896T>A (p.Phe299Tyr) c.572T>A (p.Phe191Tyr) c.860T>A (p.Phe287Tyr) | |
| 20 | g.54650454T>C | CA409691586 | DOK5 | c.896T>C (p.Phe299Ser) c.572T>C (p.Phe191Ser) c.860T>C (p.Phe287Ser) | |
| 20 | g.54650454T>G | CA409691585 | DOK5 | c.896T>G (p.Phe299Cys) c.572T>G (p.Phe191Cys) c.860T>G (p.Phe287Cys) | |
| 20 | g.54650455T>A | CA409691587 | DOK5 | c.897T>A (p.Phe299Leu) c.573T>A (p.Phe191Leu) c.861T>A (p.Phe287Leu) | |
| 20 | g.54650455T>C | CA510995044 | DOK5 | c.897T>C (p.Phe299=) c.573T>C (p.Phe191=) c.861T>C (p.Phe287=) | |
| 20 | g.54650455T>G | CA409691588 | DOK5 | c.897T>G (p.Phe299Leu) c.573T>G (p.Phe191Leu) c.861T>G (p.Phe287Leu) | |
| 20 | g.54650456C>A | CA409691589 | DOK5 | c.898C>A (p.Pro300Thr) c.574C>A (p.Pro192Thr) c.862C>A (p.Pro288Thr) | |
| 20 | g.54650456C>G | CA409691591 | DOK5 | c.898C>G (p.Pro300Ala) c.574C>G (p.Pro192Ala) c.862C>G (p.Pro288Ala) | gnomAD v4 |
| 20 | g.54650456C>T | CA409691590 | DOK5 | c.898C>T (p.Pro300Ser) c.574C>T (p.Pro192Ser) c.862C>T (p.Pro288Ser) | gnomAD v4 |
| 20 | g.54650456_54650457del | CA2653399149 | DOK5 | c.898_899del (p.Pro300SerfsTer5) c.574_575del (p.Pro192SerfsTer5) c.862_863del (p.Pro288SerfsTer5) | gnomAD v4 |
| 20 | g.54650457C>A | CA409691592 | DOK5 | c.899C>A (p.Pro300Gln) c.575C>A (p.Pro192Gln) c.863C>A (p.Pro288Gln) | COSMIC |
| 20 | g.54650457C>G | CA409691593 | DOK5 | c.899C>G (p.Pro300Arg) c.575C>G (p.Pro192Arg) c.863C>G (p.Pro288Arg) | COSMIC |
| 20 | g.54650457C>T | CA409691594 | DOK5 | c.899C>T (p.Pro300Leu) c.575C>T (p.Pro192Leu) c.863C>T (p.Pro288Leu) | gnomAD v4 COSMIC |
| 20 | g.54650460_54650466del | CA2653399150 | DOK5 | c.902_908del (p.Ala301AspfsTer16) c.578_584del (p.Ala193AspfsTer16) c.866_872del (p.Ala289AspfsTer16) | gnomAD v4 |
| 20 | g.54650458A>C | CA510995045 | DOK5 | c.900A>C (p.Pro300=) c.576A>C (p.Pro192=) c.864A>C (p.Pro288=) | |
| 20 | g.54650458A>G | CA510995046 | DOK5 | c.900A>G (p.Pro300=) c.576A>G (p.Pro192=) c.864A>G (p.Pro288=) | |
| 20 | g.54650458A>T | CA510995047 | DOK5 | c.900A>T (p.Pro300=) c.576A>T (p.Pro192=) c.864A>T (p.Pro288=) | |
| 20 | g.54650459del | CA2816747373 | DOK5 | c.901del (p.Ala301ProfsTer18) c.577del (p.Ala193ProfsTer18) c.865del (p.Ala289ProfsTer18) | |
| 20 | g.54650459G>A | CA409691595 | DOK5 | c.901G>A (p.Ala301Thr) c.577G>A (p.Ala193Thr) c.865G>A (p.Ala289Thr) | |
| 20 | g.54650459G>C | CA409691596 | DOK5 | c.901G>C (p.Ala301Pro) c.577G>C (p.Ala193Pro) c.865G>C (p.Ala289Pro) | |
| 20 | g.54650459G>T | CA409691597 | DOK5 | c.901G>T (p.Ala301Ser) c.577G>T (p.Ala193Ser) c.865G>T (p.Ala289Ser) | |
| 20 | g.54650459_54650460insGG | CA2653399151 | DOK5 | c.901_902insGG (p.Ala301GlyfsTer19) c.577_578insGG (p.Ala193GlyfsTer19) c.865_866insGG (p.Ala289GlyfsTer19) | gnomAD v4 |
| 20 | g.54650460C>A | CA409691598 | DOK5 | c.902C>A (p.Ala301Asp) c.578C>A (p.Ala193Asp) c.866C>A (p.Ala289Asp) | |
| 20 | g.54650460C= | CA2370487848 | DOK5 | c.902C= (p.Ala301=) c.578C= (p.Ala193=) c.866C= (p.Ala289=) | |
| 20 | g.54650460C>G | CA409691599 | DOK5 | c.902C>G (p.Ala301Gly) c.578C>G (p.Ala193Gly) c.866C>G (p.Ala289Gly) | |
| 20 | g.54650460C>T | CA9916721 | DOK5 | c.902C>T (p.Ala301Val) c.578C>T (p.Ala193Val) c.866C>T (p.Ala289Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650461C>A | CA510995048 | DOK5 | c.903C>A (p.Ala301=) c.579C>A (p.Ala193=) c.867C>A (p.Ala289=) | |
| 20 | g.54650461C= | CA2370487849 | DOK5 | c.903C= (p.Ala301=) c.579C= (p.Ala193=) c.867C= (p.Ala289=) | |
| 20 | g.54650461C>G | CA510995049 | DOK5 | c.903C>G (p.Ala301=) c.579C>G (p.Ala193=) c.867C>G (p.Ala289=) | COSMIC |
| 20 | g.54650461C>T | CA9916722 | DOK5 | c.903C>T (p.Ala301=) c.579C>T (p.Ala193=) c.867C>T (p.Ala289=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650462T>A | CA409691600 | DOK5 | c.904T>A (p.Tyr302Asn) c.580T>A (p.Tyr194Asn) c.868T>A (p.Tyr290Asn) | gnomAD v4 |
| 20 | g.54650462T>C | CA409691601 | DOK5 | c.904T>C (p.Tyr302His) c.580T>C (p.Tyr194His) c.868T>C (p.Tyr290His) | gnomAD v4 |
| 20 | g.54650462T>G | CA409691602 | DOK5 | c.904T>G (p.Tyr302Asp) c.580T>G (p.Tyr194Asp) c.868T>G (p.Tyr290Asp) | |
| 20 | g.54650463A= | CA2370487850 | DOK5 | c.905A= (p.Tyr302=) c.581A= (p.Tyr194=) c.869A= (p.Tyr290=) | |
| 20 | g.54650463A>C | CA409691605 | DOK5 | c.905A>C (p.Tyr302Ser) c.581A>C (p.Tyr194Ser) c.869A>C (p.Tyr290Ser) | gnomAD v4 |
| 20 | g.54650463A>G | CA409691604 | DOK5 | c.905A>G (p.Tyr302Cys) c.581A>G (p.Tyr194Cys) c.869A>G (p.Tyr290Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650463A>T | CA409691603 | DOK5 | c.905A>T (p.Tyr302Phe) c.581A>T (p.Tyr194Phe) c.869A>T (p.Tyr290Phe) | |
| 20 | g.54650464C>A | CA409691606 | DOK5 | c.906C>A (p.Tyr302Ter) c.582C>A (p.Tyr194Ter) c.870C>A (p.Tyr290Ter) | |
| 20 | g.54650464C= | CA2370487851 | DOK5 | c.906C= (p.Tyr302=) c.582C= (p.Tyr194=) c.870C= (p.Tyr290=) | |
| 20 | g.54650464C>G | CA409691607 | DOK5 | c.906C>G (p.Tyr302Ter) c.582C>G (p.Tyr194Ter) c.870C>G (p.Tyr290Ter) | |
| 20 | g.54650464C>T | CA9916723 | DOK5 | c.906C>T (p.Tyr302=) c.582C>T (p.Tyr194=) c.870C>T (p.Tyr290=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650465A>C | CA510995050 | DOK5 | c.907A>C (p.Arg303=) c.583A>C (p.Arg195=) c.871A>C (p.Arg291=) | |
| 20 | g.54650465A>G | CA409691608 | DOK5 | c.907A>G (p.Arg303Gly) c.583A>G (p.Arg195Gly) c.871A>G (p.Arg291Gly) | |
| 20 | g.54650465A>T | CA409691609 | DOK5 | c.907A>T (p.Arg303Ter) c.583A>T (p.Arg195Ter) c.871A>T (p.Arg291Ter) | |
| 20 | g.54650466G>A | CA409691610 | DOK5 | c.908G>A (p.Arg303Lys) c.584G>A (p.Arg195Lys) c.872G>A (p.Arg291Lys) | |
| 20 | g.54650466G>C | CA409691611 | DOK5 | c.908G>C (p.Arg303Thr) c.584G>C (p.Arg195Thr) c.872G>C (p.Arg291Thr) | gnomAD v4 |
| 20 | g.54650466G>T | CA409691612 | DOK5 | c.908G>T (p.Arg303Ile) c.584G>T (p.Arg195Ile) c.872G>T (p.Arg291Ile) | |
| 20 | g.54650467A>C | CA409691613 | DOK5 | c.909A>C (p.Arg303Ser) c.585A>C (p.Arg195Ser) c.873A>C (p.Arg291Ser) | |
| 20 | g.54650467A>G | CA510995051 | DOK5 | c.909A>G (p.Arg303=) c.585A>G (p.Arg195=) c.873A>G (p.Arg291=) | |
| 20 | g.54650467A>T | CA409691614 | DOK5 | c.909A>T (p.Arg303Ser) c.585A>T (p.Arg195Ser) c.873A>T (p.Arg291Ser) | |
| 20 | g.54650468T>A | CA409691615 | DOK5 | c.910T>A (p.Ser304Thr) c.586T>A (p.Ser196Thr) c.874T>A (p.Ser292Thr) | |
| 20 | g.54650468T>C | CA9916724 | DOK5 | c.910T>C (p.Ser304Pro) c.586T>C (p.Ser196Pro) c.874T>C (p.Ser292Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650468T>G | CA409691616 | DOK5 | c.910T>G (p.Ser304Ala) c.586T>G (p.Ser196Ala) c.874T>G (p.Ser292Ala) | |
| 20 | g.54650468T= | CA2370487852 | DOK5 | c.910T= (p.Ser304=) c.586T= (p.Ser196=) c.874T= (p.Ser292=) | |
| 20 | g.54650469C>A | CA409691618 | DOK5 | c.911C>A (p.Ser304Tyr) c.587C>A (p.Ser196Tyr) c.875C>A (p.Ser292Tyr) | |
| 20 | g.54650469C>G | CA409691619 | DOK5 | c.911C>G (p.Ser304Cys) c.587C>G (p.Ser196Cys) c.875C>G (p.Ser292Cys) | |
| 20 | g.54650469C>T | CA409691617 | DOK5 | c.911C>T (p.Ser304Phe) c.587C>T (p.Ser196Phe) c.875C>T (p.Ser292Phe) | |
| 20 | g.54650470T>A | CA510995052 | DOK5 | c.912T>A (p.Ser304=) c.588T>A (p.Ser196=) c.876T>A (p.Ser292=) | |
| 20 | g.54650470T>C | CA510995053 | DOK5 | c.912T>C (p.Ser304=) c.588T>C (p.Ser196=) c.876T>C (p.Ser292=) | gnomAD v4 |
| 20 | g.54650470T>G | CA510995054 | DOK5 | c.912T>G (p.Ser304=) c.588T>G (p.Ser196=) c.876T>G (p.Ser292=) | |
| 20 | g.54650471G>A | CA409691620 | DOK5 | c.913G>A (p.Glu305Lys) c.589G>A (p.Glu197Lys) c.877G>A (p.Glu293Lys) | gnomAD v4 |
| 20 | g.54650471G>C | CA409691621 | DOK5 | c.913G>C (p.Glu305Gln) c.589G>C (p.Glu197Gln) c.877G>C (p.Glu293Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650471G= | CA2370487853 | DOK5 | c.913G= (p.Glu305=) c.589G= (p.Glu197=) c.877G= (p.Glu293=) | |
| 20 | g.54650471G>T | CA409691622 | DOK5 | c.913G>T (p.Glu305Ter) c.589G>T (p.Glu197Ter) c.877G>T (p.Glu293Ter) | |
| 20 | g.54650472A>C | CA409691623 | DOK5 | c.914A>C (p.Glu305Ala) c.590A>C (p.Glu197Ala) c.878A>C (p.Glu293Ala) | |
| 20 | g.54650472A>G | CA409691624 | DOK5 | c.914A>G (p.Glu305Gly) c.590A>G (p.Glu197Gly) c.878A>G (p.Glu293Gly) | dbSNP |
| 20 | g.54650472A>T | CA409691625 | DOK5 | c.914A>T (p.Glu305Val) c.590A>T (p.Glu197Val) c.878A>T (p.Glu293Val) | |
| 20 | g.54650473G>A | CA510995055 | DOK5 | c.915G>A (p.Glu305=) c.591G>A (p.Glu197=) c.879G>A (p.Glu293=) | |
| 20 | g.54650473G>C | CA409691626 | DOK5 | c.915G>C (p.Glu305Asp) c.591G>C (p.Glu197Asp) c.879G>C (p.Glu293Asp) | |
| 20 | g.54650473G>T | CA409691627 | DOK5 | c.915G>T (p.Glu305Asp) c.591G>T (p.Glu197Asp) c.879G>T (p.Glu293Asp) | |
| 20 | g.54650474C>A | CA409691628 | DOK5 | c.916C>A (p.His306Asn) c.592C>A (p.His198Asn) c.880C>A (p.His294Asn) | |
| 20 | g.54650474C>G | CA409691629 | DOK5 | c.916C>G (p.His306Asp) c.592C>G (p.His198Asp) c.880C>G (p.His294Asp) | gnomAD v4 |
| 20 | g.54650474C>T | CA409691630 | DOK5 | c.916C>T (p.His306Tyr) c.592C>T (p.His198Tyr) c.880C>T (p.His294Tyr) | gnomAD v4 |
| 20 | g.54650475A= | CA2370487854 | DOK5 | c.917A= (p.His306=) c.593A= (p.His198=) c.881A= (p.His294=) | |
| 20 | g.54650475A>C | CA9916726 | DOK5 | c.917A>C (p.His306Pro) c.593A>C (p.His198Pro) c.881A>C (p.His294Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650475A>G | CA9916725 | DOK5 | c.917A>G (p.His306Arg) c.593A>G (p.His198Arg) c.881A>G (p.His294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650475A>T | CA409691631 | DOK5 | c.917A>T (p.His306Leu) c.593A>T (p.His198Leu) c.881A>T (p.His294Leu) | |
| 20 | g.54650476C>A | CA409691632 | DOK5 | c.918C>A (p.His306Gln) c.594C>A (p.His198Gln) c.882C>A (p.His294Gln) | |
| 20 | g.54650476C>G | CA409691633 | DOK5 | c.918C>G (p.His306Gln) c.594C>G (p.His198Gln) c.882C>G (p.His294Gln) | |
| 20 | g.54650476C>T | CA510995056 | DOK5 | c.918C>T (p.His306=) c.594C>T (p.His198=) c.882C>T (p.His294=) | |
| 20 | g.54650477T>A | CA409691634 | DOK5 | c.919T>A (p.Ter307Arg) c.595T>A (p.Ter199Arg) c.883T>A (p.Ter295Arg) | |
| 20 | g.54650477T>C | CA409691635 | DOK5 | c.919T>C (p.Ter307Arg) c.595T>C (p.Ter199Arg) c.883T>C (p.Ter295Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650477T>G | CA409691636 | DOK5 | c.919T>G (p.Ter307Gly) c.595T>G (p.Ter199Gly) c.883T>G (p.Ter295Gly) | |
| 20 | g.54650477T= | CA2370487855 | DOK5 | c.919T= (p.Ter307=) c.595T= (p.Ter199=) c.883T= (p.Ter295=) | |
| 20 | g.54650478G>A | CA510995057 | DOK5 | c.920G>A (p.Ter307=) c.596G>A (p.Ter199=) c.884G>A (p.Ter295=) | |
| 20 | g.54650478G>C | CA409691637 | DOK5 | c.920G>C (p.Ter307Ser) c.596G>C (p.Ter199Ser) c.884G>C (p.Ter295Ser) | |
| 20 | g.54650478G>T | CA409691638 | DOK5 | c.920G>T (p.Ter307Leu) c.596G>T (p.Ter199Leu) c.884G>T (p.Ter295Leu) | |
| 20 | g.54650479A>C | CA409691639 | DOK5 | c.921A>C (p.Ter307Cys) c.597A>C (p.Ter199Cys) c.885A>C (p.Ter295Cys) | gnomAD v4 |
| 20 | g.54650479A>G | CA409691640 | DOK5 | c.921A>G (p.Ter307Trp) c.597A>G (p.Ter199Trp) c.885A>G (p.Ter295Trp) | |
| 20 | g.54650479A>T | CA409691641 | DOK5 | c.921A>T (p.Ter307Cys) c.597A>T (p.Ter199Cys) c.885A>T (p.Ter295Cys) | gnomAD v4 COSMIC |
| 20 | g.54650480C= | CA2370487856 | DOK5 | c.*1C= (n.*1C=) | |
| 20 | g.54650480C>G | CA9916727 | DOK5 | c.*1C>G (n.*1C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650480C>T | CA2653399152 | DOK5 | c.*1C>T (n.*1C>T) | gnomAD v4 |
| 20 | g.54650483T>G | CA2370487858 | DOK5 | c.*4T>G (n.*4T>G) | dbSNP gnomAD v4 |
| 20 | g.54650483T= | CA2370487857 | DOK5 | c.*4T= (n.*4T=) | |
| 20 | g.54650484A>G | CA2653399153 | DOK5 | c.*5A>G (n.*5A>G) | gnomAD v4 |
| 20 | g.54650486C>T | CA2816747374 | DOK5 | c.*7C>T (n.*7C>T) | |
| 20 | g.54650487T>G | CA2653399154 | DOK5 | c.*8T>G (n.*8T>G) | gnomAD v4 |
| 20 | g.54650488G>A | CA636385485 | DOK5 | c.*9G>A (n.*9G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650488G= | CA2370487859 | DOK5 | c.*9G= (n.*9G=) | |
| 20 | g.54650488G>T | CA2653399155 | DOK5 | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 20 | g.54650489C>A | CA636385486 | DOK5 | c.*10C>A (n.*10C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650489C= | CA2370487860 | DOK5 | c.*10C= (n.*10C=) | |
| 20 | g.54650490C>A | CA9916728 | DOK5 | c.*11C>A (n.*11C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650490C= | CA2370487861 | DOK5 | c.*11C= (n.*11C=) | |
| 20 | g.54650490C>T | CA316539584 | DOK5 | c.*11C>T (n.*11C>T) | dbSNP gnomAD v4 |
| 20 | g.54650491A>G | CA2594635655 | DOK5 | c.*12A>G (n.*12A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650493G>A | CA2736848514 | DOK5 | c.*14G>A (n.*14G>A) | dbSNP |
| 20 | g.54650493G= | CA2370487862 | DOK5 | c.*14G= (n.*14G=) | |
| 20 | g.54650493G>T | CA745649928 | DOK5 | c.*14G>T (n.*14G>T) | dbSNP gnomAD v4 |
| 20 | g.54650496T>C | CA9916729 | DOK5 | c.*17T>C (n.*17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650496T= | CA2370487863 | DOK5 | c.*17T= (n.*17T=) | |
| 20 | g.54650498G>A | CA2524366366 | DOK5 | c.*19G>A (n.*19G>A) | gnomAD v4 |
| 20 | g.54650498G>C | CA2816747375 | DOK5 | c.*19G>C (n.*19G>C) | |
| 20 | g.54650498G>T | CA2653399156 | DOK5 | c.*19G>T (n.*19G>T) | gnomAD v4 |
| 20 | g.54650501A>G | CA2741675605 | DOK5 | c.*22A>G (n.*22A>G) | |
| 20 | g.54650503C= | CA2370487864 | DOK5 | c.*24C= (n.*24C=) | |
| 20 | g.54650503C>T | CA636385488 | DOK5 | c.*24C>T (n.*24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650505C>A | CA2653399157 | DOK5 | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 20 | g.54650505C= | CA2370487865 | DOK5 | c.*26C= (n.*26C=) | |
| 20 | g.54650505C>T | CA316539585 | DOK5 | c.*26C>T (n.*26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650506A= | CA2370487866 | DOK5 | c.*27A= (n.*27A=) | |
| 20 | g.54650506A>G | CA9916730 | DOK5 | c.*27A>G (n.*27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650506A>T | CA2653399158 | DOK5 | c.*27A>T (n.*27A>T) | gnomAD v4 |
| 20 | g.54650507C>A | CA2653399159 | DOK5 | c.*28C>A (n.*28C>A) | gnomAD v4 |
| 20 | g.54650507C= | CA2370487867 | DOK5 | c.*28C= (n.*28C=) | |
| 20 | g.54650507C>G | CA316539586 | DOK5 | c.*28C>G (n.*28C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650507C>T | CA2653399160 | DOK5 | c.*28C>T (n.*28C>T) | gnomAD v4 |
| 20 | g.54650509T>A | CA9916731 | DOK5 | c.*30T>A (n.*30T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650509T= | CA2370487868 | DOK5 | c.*30T= (n.*30T=) | |
| 20 | g.54650510G>A | CA2737117668 | DOK5 | c.*31G>A (n.*31G>A) | dbSNP |
| 20 | g.54650510G>C | CA657942631 | DOK5 | c.*31G>C (n.*31G>C) | COSMIC |
| 20 | g.54650511T>C | CA2737117670 | DOK5 | c.*32T>C (n.*32T>C) | dbSNP |
| 20 | g.54650512G>A | CA9916732 | DOK5 | c.*33G>A (n.*33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650512G= | CA2370487869 | DOK5 | c.*33G= (n.*33G=) | |
| 20 | g.54650513A= | CA2370487870 | DOK5 | c.*34A= (n.*34A=) | |
| 20 | g.54650513A>T | CA2370487871 | DOK5 | c.*34A>T (n.*34A>T) | dbSNP |
| 20 | g.54650515G>A | CA9916733 | DOK5 | c.*36G>A (n.*36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650515G= | CA2370487872 | DOK5 | c.*36G= (n.*36G=) | |
| 20 | g.54650515G>T | CA2653399161 | DOK5 | c.*36G>T (n.*36G>T) | gnomAD v4 |
| 20 | g.54650516T>A | CA1018606231 | DOK5 | c.*37T>A (n.*37T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650516T>C | CA2653399162 | DOK5 | c.*37T>C (n.*37T>C) | gnomAD v4 |
| 20 | g.54650516T= | CA2370487873 | DOK5 | c.*37T= (n.*37T=) | |
| 20 | g.54650517G>A | CA2577430267 | DOK5 | c.*38G>A (n.*38G>A) | |
| 20 | g.54650519C>A | CA2653399163 | DOK5 | c.*40C>A (n.*40C>A) | gnomAD v4 |
| 20 | g.54650520A>G | CA2653399164 | DOK5 | c.*41A>G (n.*41A>G) | gnomAD v4 |
| 20 | g.54650521G>A | CA2653399165 | DOK5 | c.*42G>A (n.*42G>A) | gnomAD v4 |
| 20 | g.54650521G>T | CA2653399166 | DOK5 | c.*42G>T (n.*42G>T) | gnomAD v4 |
| 20 | g.54650522C>A | CA2653399167 | DOK5 | c.*43C>A (n.*43C>A) | gnomAD v4 |
| 20 | g.54650523C>A | CA2577430268 | DOK5 | c.*44C>A (n.*44C>A) | gnomAD v4 |
| 20 | g.54650523C= | CA2370487874 | DOK5 | c.*44C= (n.*44C=) | |
| 20 | g.54650523C>G | CA636385498 | DOK5 | c.*44C>G (n.*44C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650523C>T | CA2653399168 | DOK5 | c.*44C>T (n.*44C>T) | gnomAD v4 |
| 20 | g.54650524A>G | CA2653399169 | DOK5 | c.*45A>G (n.*45A>G) | gnomAD v4 |
| 20 | g.54650525C>A | CA2653399170 | DOK5 | c.*46C>A (n.*46C>A) | gnomAD v4 |
| 20 | g.54650526A= | CA2370487875 | DOK5 | c.*47A= (n.*47A=) | |
| 20 | g.54650526A>C | CA745649949 | DOK5 | c.*47A>C (n.*47A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650526A>G | CA1018606233 | DOK5 | c.*47A>G (n.*47A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650527G>C | CA745649960 | DOK5 | c.*48G>C (n.*48G>C) | dbSNP |
| 20 | g.54650527G= | CA2370487876 | DOK5 | c.*48G= (n.*48G=) | |
| 20 | g.54650527G>T | CA2653399171 | DOK5 | c.*48G>T (n.*48G>T) | gnomAD v4 |
| 20 | g.54650528A= | CA2370487877 | DOK5 | c.*49A= (n.*49A=) | |
| 20 | g.54650528A>T | CA9916734 | DOK5 | c.*49A>T (n.*49A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650530T>C | CA745649967 | DOK5 | c.*51T>C (n.*51T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650530T= | CA2370487878 | DOK5 | c.*51T= (n.*51T=) | |
| 20 | g.54650531C>A | CA2653399172 | DOK5 | c.*52C>A (n.*52C>A) | gnomAD v4 |
| 20 | g.54650531C>G | CA2653399173 | DOK5 | c.*52C>G (n.*52C>G) | gnomAD v4 |
| 20 | g.54650535del | CA2653399174 | DOK5 | c.*56del (n.*56del) | gnomAD v4 |
| 20 | g.54650534C>A | CA2653399175 | DOK5 | c.*55C>A (n.*55C>A) | gnomAD v4 |
| 20 | g.54650534C= | CA2370487879 | DOK5 | c.*55C= (n.*55C=) | |
| 20 | g.54650534C>G | CA1018606236 | DOK5 | c.*55C>G (n.*55C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650535C>A | CA2577430269 | DOK5 | c.*56C>A (n.*56C>A) | gnomAD v4 |
| 20 | g.54650535C>T | CA2577430270 | DOK5 | c.*56C>T (n.*56C>T) | |
| 20 | g.54650536A>G | CA2653399176 | DOK5 | c.*57A>G (n.*57A>G) | gnomAD v4 |
| 20 | g.54650537G>C | CA1018606243 | DOK5 | c.*58G>C (n.*58G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650537G= | CA2370487880 | DOK5 | c.*58G= (n.*58G=) | |
| 20 | g.54650537G>T | CA2653399177 | DOK5 | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 20 | g.54650541G>A | CA2653399178 | DOK5 | c.*62G>A (n.*62G>A) | gnomAD v4 |
| 20 | g.54650541G>T | CA2653399179 | DOK5 | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 20 | g.54650542T>C | CA2653399180 | DOK5 | c.*63T>C (n.*63T>C) | gnomAD v4 |