| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113118412_113118426dup | CA960396906 | F7 | c.740-1_753dup c.806-1_819dup c.554-1_567dup n.827-1_840dup c.599-1_612dup c.848-1_861dup c.662-1_675dup c.500-1_513dup c.809-1_822dup c.644-1_657dup c.893-1_906dup c.707-1_720dup n.824-1_837dup | gnomAD v3 gnomAD v4 |
| 13 | g.113118412_113118427delinsGGCGAGCACGACCTCA | CA2120141620 | F7 | c.740-1_754delinsGGCGAGCACGACCTCA c.806-1_820delinsGGCGAGCACGACCTCA c.554-1_568delinsGGCGAGCACGACCTCA n.827-1_841delinsGGCGAGCACGACCTCA c.599-1_613delinsGGCGAGCACGACCTCA c.848-1_862delinsGGCGAGCACGACCTCA c.662-1_676delinsGGCGAGCACGACCTCA c.500-1_514delinsGGCGAGCACGACCTCA c.809-1_823delinsGGCGAGCACGACCTCA c.644-1_658delinsGGCGAGCACGACCTCA c.893-1_907delinsGGCGAGCACGACCTCA c.707-1_721delinsGGCGAGCACGACCTCA n.824-1_838delinsGGCGAGCACGACCTCA | |
| 13 | g.113118424_113118438dup | CA2580616545 | F7 | c.751_765dup (p.Asp255_Gly256insLeuSerGluHisAsp) c.817_831dup (p.Asp277_Gly278insLeuSerGluHisAsp) c.565_579dup (p.Asp193_Gly194insLeuSerGluHisAsp) n.838_852dup c.610_624dup (p.Asp208_Gly209insLeuSerGluHisAsp) c.859_873dup (p.Asp291_Gly292insLeuSerGluHisAsp) c.673_687dup (p.Asp229_Gly230insLeuSerGluHisAsp) c.511_525dup (p.Asp175_Gly176insLeuSerGluHisAsp) c.820_834dup (p.Asp278_Gly279insLeuSerGluHisAsp) c.655_669dup (p.Asp223_Gly224insLeuSerGluHisAsp) c.904_918dup (p.Asp306_Gly307insLeuSerGluHisAsp) c.718_732dup (p.Asp244_Gly245insLeuSerGluHisAsp) n.835_849dup | ClinVar gnomAD v4 |
| 13 | g.113118424_113118438del | CA7060122 | F7 | c.751_765del (p.Leu251_Asp255del) c.817_831del (p.Leu273_Asp277del) c.565_579del (p.Leu189_Asp193del) n.838_852del c.610_624del (p.Leu204_Asp208del) c.859_873del (p.Leu287_Asp291del) c.673_687del (p.Leu225_Asp229del) c.511_525del (p.Leu171_Asp175del) c.820_834del (p.Leu274_Asp278del) c.655_669del (p.Leu219_Asp223del) c.904_918del (p.Leu302_Asp306del) c.718_732del (p.Leu240_Asp244del) n.835_849del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118418C>A | CA388785772 | F7 | c.745C>A (p.His249Asn) c.811C>A (p.His271Asn) c.559C>A (p.His187Asn) n.832C>A c.604C>A (p.His202Asn) c.853C>A (p.His285Asn) c.667C>A (p.His223Asn) c.505C>A (p.His169Asn) c.814C>A (p.His272Asn) c.649C>A (p.His217Asn) c.898C>A (p.His300Asn) c.712C>A (p.His238Asn) n.829C>A | gnomAD v4 |
| 13 | g.113118418C= | CA2120141649 | F7 | c.745C= (p.His249=) c.811C= (p.His271=) c.559C= (p.His187=) n.832C= c.604C= (p.His202=) c.853C= (p.His285=) c.667C= (p.His223=) c.505C= (p.His169=) c.814C= (p.His272=) c.649C= (p.His217=) c.898C= (p.His300=) c.712C= (p.His238=) n.829C= | |
| 13 | g.113118418C>G | CA388785773 | F7 | c.745C>G (p.His249Asp) c.811C>G (p.His271Asp) c.559C>G (p.His187Asp) n.832C>G c.604C>G (p.His202Asp) c.853C>G (p.His285Asp) c.667C>G (p.His223Asp) c.505C>G (p.His169Asp) c.814C>G (p.His272Asp) c.649C>G (p.His217Asp) c.898C>G (p.His300Asp) c.712C>G (p.His238Asp) n.829C>G | |
| 13 | g.113118418C>T | CA7060127 | F7 | c.745C>T (p.His249Tyr) c.811C>T (p.His271Tyr) c.559C>T (p.His187Tyr) n.832C>T c.604C>T (p.His202Tyr) c.853C>T (p.His285Tyr) c.667C>T (p.His223Tyr) c.505C>T (p.His169Tyr) c.814C>T (p.His272Tyr) c.649C>T (p.His217Tyr) c.898C>T (p.His300Tyr) c.712C>T (p.His238Tyr) n.829C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118419A>C | CA388785774 | F7 | c.746A>C (p.His249Pro) c.812A>C (p.His271Pro) c.560A>C (p.His187Pro) n.833A>C c.605A>C (p.His202Pro) c.854A>C (p.His285Pro) c.668A>C (p.His223Pro) c.506A>C (p.His169Pro) c.815A>C (p.His272Pro) c.650A>C (p.His217Pro) c.899A>C (p.His300Pro) c.713A>C (p.His238Pro) n.830A>C | |
| 13 | g.113118419A>G | CA388785775 | F7 | c.746A>G (p.His249Arg) c.812A>G (p.His271Arg) c.560A>G (p.His187Arg) n.833A>G c.605A>G (p.His202Arg) c.854A>G (p.His285Arg) c.668A>G (p.His223Arg) c.506A>G (p.His169Arg) c.815A>G (p.His272Arg) c.650A>G (p.His217Arg) c.899A>G (p.His300Arg) c.713A>G (p.His238Arg) n.830A>G | |
| 13 | g.113118419A>T | CA388785776 | F7 | c.746A>T (p.His249Leu) c.812A>T (p.His271Leu) c.560A>T (p.His187Leu) n.833A>T c.605A>T (p.His202Leu) c.854A>T (p.His285Leu) c.668A>T (p.His223Leu) c.506A>T (p.His169Leu) c.815A>T (p.His272Leu) c.650A>T (p.His217Leu) c.899A>T (p.His300Leu) c.713A>T (p.His238Leu) n.830A>T | |
| 13 | g.113118420C>A | CA388785777 | F7 | c.747C>A (p.His249Gln) c.813C>A (p.His271Gln) c.561C>A (p.His187Gln) n.834C>A c.606C>A (p.His202Gln) c.855C>A (p.His285Gln) c.669C>A (p.His223Gln) c.507C>A (p.His169Gln) c.816C>A (p.His272Gln) c.651C>A (p.His217Gln) c.900C>A (p.His300Gln) c.714C>A (p.His238Gln) n.831C>A | |
| 13 | g.113118420C= | CA2120141653 | F7 | c.747C= (p.His249=) c.813C= (p.His271=) c.561C= (p.His187=) n.834C= c.606C= (p.His202=) c.855C= (p.His285=) c.669C= (p.His223=) c.507C= (p.His169=) c.816C= (p.His272=) c.651C= (p.His217=) c.900C= (p.His300=) c.714C= (p.His238=) n.831C= | |
| 13 | g.113118420C>G | CA388785778 | F7 | c.747C>G (p.His249Gln) c.813C>G (p.His271Gln) c.561C>G (p.His187Gln) n.834C>G c.606C>G (p.His202Gln) c.855C>G (p.His285Gln) c.669C>G (p.His223Gln) c.507C>G (p.His169Gln) c.816C>G (p.His272Gln) c.651C>G (p.His217Gln) c.900C>G (p.His300Gln) c.714C>G (p.His238Gln) n.831C>G | |
| 13 | g.113118420C>T | CA256461435 | F7 | c.747C>T (p.His249=) c.813C>T (p.His271=) c.561C>T (p.His187=) n.834C>T c.606C>T (p.His202=) c.855C>T (p.His285=) c.669C>T (p.His223=) c.507C>T (p.His169=) c.816C>T (p.His272=) c.651C>T (p.His217=) c.900C>T (p.His300=) c.714C>T (p.His238=) n.831C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118421G>A | CA7060128 | F7 | c.748G>A (p.Asp250Asn) c.814G>A (p.Asp272Asn) c.562G>A (p.Asp188Asn) n.835G>A c.607G>A (p.Asp203Asn) c.856G>A (p.Asp286Asn) c.670G>A (p.Asp224Asn) c.508G>A (p.Asp170Asn) c.817G>A (p.Asp273Asn) c.652G>A (p.Asp218Asn) c.901G>A (p.Asp301Asn) c.715G>A (p.Asp239Asn) n.832G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118421G>C | CA388785780 | F7 | c.748G>C (p.Asp250His) c.814G>C (p.Asp272His) c.562G>C (p.Asp188His) n.835G>C c.607G>C (p.Asp203His) c.856G>C (p.Asp286His) c.670G>C (p.Asp224His) c.508G>C (p.Asp170His) c.817G>C (p.Asp273His) c.652G>C (p.Asp218His) c.901G>C (p.Asp301His) c.715G>C (p.Asp239His) n.832G>C | gnomAD v4 |
| 13 | g.113118421G= | CA2120141654 | F7 | c.748G= (p.Asp250=) c.814G= (p.Asp272=) c.562G= (p.Asp188=) n.835G= c.607G= (p.Asp203=) c.856G= (p.Asp286=) c.670G= (p.Asp224=) c.508G= (p.Asp170=) c.817G= (p.Asp273=) c.652G= (p.Asp218=) c.901G= (p.Asp301=) c.715G= (p.Asp239=) n.832G= | |
| 13 | g.113118421G>T | CA388785779 | F7 | c.748G>T (p.Asp250Tyr) c.814G>T (p.Asp272Tyr) c.562G>T (p.Asp188Tyr) n.835G>T c.607G>T (p.Asp203Tyr) c.856G>T (p.Asp286Tyr) c.670G>T (p.Asp224Tyr) c.508G>T (p.Asp170Tyr) c.817G>T (p.Asp273Tyr) c.652G>T (p.Asp218Tyr) c.901G>T (p.Asp301Tyr) c.715G>T (p.Asp239Tyr) n.832G>T | gnomAD v4 |
| 13 | g.113118422A>C | CA388785783 | F7 | c.749A>C (p.Asp250Ala) c.815A>C (p.Asp272Ala) c.563A>C (p.Asp188Ala) n.836A>C c.608A>C (p.Asp203Ala) c.857A>C (p.Asp286Ala) c.671A>C (p.Asp224Ala) c.509A>C (p.Asp170Ala) c.818A>C (p.Asp273Ala) c.653A>C (p.Asp218Ala) c.902A>C (p.Asp301Ala) c.716A>C (p.Asp239Ala) n.833A>C | |
| 13 | g.113118422A>G | CA388785781 | F7 | c.749A>G (p.Asp250Gly) c.815A>G (p.Asp272Gly) c.563A>G (p.Asp188Gly) n.836A>G c.608A>G (p.Asp203Gly) c.857A>G (p.Asp286Gly) c.671A>G (p.Asp224Gly) c.509A>G (p.Asp170Gly) c.818A>G (p.Asp273Gly) c.653A>G (p.Asp218Gly) c.902A>G (p.Asp301Gly) c.716A>G (p.Asp239Gly) n.833A>G | gnomAD v4 |
| 13 | g.113118422A>T | CA388785782 | F7 | c.749A>T (p.Asp250Val) c.815A>T (p.Asp272Val) c.563A>T (p.Asp188Val) n.836A>T c.608A>T (p.Asp203Val) c.857A>T (p.Asp286Val) c.671A>T (p.Asp224Val) c.509A>T (p.Asp170Val) c.818A>T (p.Asp273Val) c.653A>T (p.Asp218Val) c.902A>T (p.Asp301Val) c.716A>T (p.Asp239Val) n.833A>T | |
| 13 | g.113118423C>A | CA388785784 | F7 | c.750C>A (p.Asp250Glu) c.816C>A (p.Asp272Glu) c.564C>A (p.Asp188Glu) n.837C>A c.609C>A (p.Asp203Glu) c.858C>A (p.Asp286Glu) c.672C>A (p.Asp224Glu) c.510C>A (p.Asp170Glu) c.819C>A (p.Asp273Glu) c.654C>A (p.Asp218Glu) c.903C>A (p.Asp301Glu) c.717C>A (p.Asp239Glu) n.834C>A | gnomAD v4 |
| 13 | g.113118423C>G | CA388785785 | F7 | c.750C>G (p.Asp250Glu) c.816C>G (p.Asp272Glu) c.564C>G (p.Asp188Glu) n.837C>G c.609C>G (p.Asp203Glu) c.858C>G (p.Asp286Glu) c.672C>G (p.Asp224Glu) c.510C>G (p.Asp170Glu) c.819C>G (p.Asp273Glu) c.654C>G (p.Asp218Glu) c.903C>G (p.Asp301Glu) c.717C>G (p.Asp239Glu) n.834C>G | |
| 13 | g.113118423C>T | CA485423819 | F7 | c.750C>T (p.Asp250=) c.816C>T (p.Asp272=) c.564C>T (p.Asp188=) n.837C>T c.609C>T (p.Asp203=) c.858C>T (p.Asp286=) c.672C>T (p.Asp224=) c.510C>T (p.Asp170=) c.819C>T (p.Asp273=) c.654C>T (p.Asp218=) c.903C>T (p.Asp301=) c.717C>T (p.Asp239=) n.834C>T | gnomAD v4 |
| 13 | g.113118424C>A | CA388785786 | F7 | c.751C>A (p.Leu251Ile) c.817C>A (p.Leu273Ile) c.565C>A (p.Leu189Ile) n.838C>A c.610C>A (p.Leu204Ile) c.859C>A (p.Leu287Ile) c.673C>A (p.Leu225Ile) c.511C>A (p.Leu171Ile) c.820C>A (p.Leu274Ile) c.655C>A (p.Leu219Ile) c.904C>A (p.Leu302Ile) c.718C>A (p.Leu240Ile) n.835C>A | |
| 13 | g.113118424C>G | CA388785787 | F7 | c.751C>G (p.Leu251Val) c.817C>G (p.Leu273Val) c.565C>G (p.Leu189Val) n.838C>G c.610C>G (p.Leu204Val) c.859C>G (p.Leu287Val) c.673C>G (p.Leu225Val) c.511C>G (p.Leu171Val) c.820C>G (p.Leu274Val) c.655C>G (p.Leu219Val) c.904C>G (p.Leu302Val) c.718C>G (p.Leu240Val) n.835C>G | |
| 13 | g.113118424C>T | CA388785788 | F7 | c.751C>T (p.Leu251Phe) c.817C>T (p.Leu273Phe) c.565C>T (p.Leu189Phe) n.838C>T c.610C>T (p.Leu204Phe) c.859C>T (p.Leu287Phe) c.673C>T (p.Leu225Phe) c.511C>T (p.Leu171Phe) c.820C>T (p.Leu274Phe) c.655C>T (p.Leu219Phe) c.904C>T (p.Leu302Phe) c.718C>T (p.Leu240Phe) n.835C>T | gnomAD v4 COSMIC |
| 13 | g.113118425T>A | CA388785789 | F7 | c.752T>A (p.Leu251His) c.818T>A (p.Leu273His) c.566T>A (p.Leu189His) n.839T>A c.611T>A (p.Leu204His) c.860T>A (p.Leu287His) c.674T>A (p.Leu225His) c.512T>A (p.Leu171His) c.821T>A (p.Leu274His) c.656T>A (p.Leu219His) c.905T>A (p.Leu302His) c.719T>A (p.Leu240His) n.836T>A | |
| 13 | g.113118425T>C | CA388785790 | F7 | c.752T>C (p.Leu251Pro) c.818T>C (p.Leu273Pro) c.566T>C (p.Leu189Pro) n.839T>C c.611T>C (p.Leu204Pro) c.860T>C (p.Leu287Pro) c.674T>C (p.Leu225Pro) c.512T>C (p.Leu171Pro) c.821T>C (p.Leu274Pro) c.656T>C (p.Leu219Pro) c.905T>C (p.Leu302Pro) c.719T>C (p.Leu240Pro) n.836T>C | |
| 13 | g.113118425T>G | CA388785791 | F7 | c.752T>G (p.Leu251Arg) c.818T>G (p.Leu273Arg) c.566T>G (p.Leu189Arg) n.839T>G c.611T>G (p.Leu204Arg) c.860T>G (p.Leu287Arg) c.674T>G (p.Leu225Arg) c.512T>G (p.Leu171Arg) c.821T>G (p.Leu274Arg) c.656T>G (p.Leu219Arg) c.905T>G (p.Leu302Arg) c.719T>G (p.Leu240Arg) n.836T>G | |
| 13 | g.113118426C>A | CA485423820 | F7 | c.753C>A (p.Leu251=) c.819C>A (p.Leu273=) c.567C>A (p.Leu189=) n.840C>A c.612C>A (p.Leu204=) c.861C>A (p.Leu287=) c.675C>A (p.Leu225=) c.513C>A (p.Leu171=) c.822C>A (p.Leu274=) c.657C>A (p.Leu219=) c.906C>A (p.Leu302=) c.720C>A (p.Leu240=) n.837C>A | |
| 13 | g.113118426C= | CA2120141656 | F7 | c.753C= (p.Leu251=) c.819C= (p.Leu273=) c.567C= (p.Leu189=) n.840C= c.612C= (p.Leu204=) c.861C= (p.Leu287=) c.675C= (p.Leu225=) c.513C= (p.Leu171=) c.822C= (p.Leu274=) c.657C= (p.Leu219=) c.906C= (p.Leu302=) c.720C= (p.Leu240=) n.837C= | |
| 13 | g.113118426C>G | CA485423821 | F7 | c.753C>G (p.Leu251=) c.819C>G (p.Leu273=) c.567C>G (p.Leu189=) n.840C>G c.612C>G (p.Leu204=) c.861C>G (p.Leu287=) c.675C>G (p.Leu225=) c.513C>G (p.Leu171=) c.822C>G (p.Leu274=) c.657C>G (p.Leu219=) c.906C>G (p.Leu302=) c.720C>G (p.Leu240=) n.837C>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113118426C>T | CA485423822 | F7 | c.753C>T (p.Leu251=) c.819C>T (p.Leu273=) c.567C>T (p.Leu189=) n.840C>T c.612C>T (p.Leu204=) c.861C>T (p.Leu287=) c.675C>T (p.Leu225=) c.513C>T (p.Leu171=) c.822C>T (p.Leu274=) c.657C>T (p.Leu219=) c.906C>T (p.Leu302=) c.720C>T (p.Leu240=) n.837C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113118427A= | CA2120141664 | F7 | c.754A= (p.Ser252=) c.820A= (p.Ser274=) c.568A= (p.Ser190=) n.841A= c.613A= (p.Ser205=) c.862A= (p.Ser288=) c.676A= (p.Ser226=) c.514A= (p.Ser172=) c.823A= (p.Ser275=) c.658A= (p.Ser220=) c.907A= (p.Ser303=) c.721A= (p.Ser241=) n.838A= | |
| 13 | g.113118427A>C | CA388785792 | F7 | c.754A>C (p.Ser252Arg) c.820A>C (p.Ser274Arg) c.568A>C (p.Ser190Arg) n.841A>C c.613A>C (p.Ser205Arg) c.862A>C (p.Ser288Arg) c.676A>C (p.Ser226Arg) c.514A>C (p.Ser172Arg) c.823A>C (p.Ser275Arg) c.658A>C (p.Ser220Arg) c.907A>C (p.Ser303Arg) c.721A>C (p.Ser241Arg) n.838A>C | |
| 13 | g.113118427A>G | CA7060129 | F7 | c.754A>G (p.Ser252Gly) c.820A>G (p.Ser274Gly) c.568A>G (p.Ser190Gly) n.841A>G c.613A>G (p.Ser205Gly) c.862A>G (p.Ser288Gly) c.676A>G (p.Ser226Gly) c.514A>G (p.Ser172Gly) c.823A>G (p.Ser275Gly) c.658A>G (p.Ser220Gly) c.907A>G (p.Ser303Gly) c.721A>G (p.Ser241Gly) n.838A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118427A>T | CA388785793 | F7 | c.754A>T (p.Ser252Cys) c.820A>T (p.Ser274Cys) c.568A>T (p.Ser190Cys) n.841A>T c.613A>T (p.Ser205Cys) c.862A>T (p.Ser288Cys) c.676A>T (p.Ser226Cys) c.514A>T (p.Ser172Cys) c.823A>T (p.Ser275Cys) c.658A>T (p.Ser220Cys) c.907A>T (p.Ser303Cys) c.721A>T (p.Ser241Cys) n.838A>T | |
| 13 | g.113118428G>A | CA7060130 | F7 | c.755G>A (p.Ser252Asn) c.821G>A (p.Ser274Asn) c.569G>A (p.Ser190Asn) n.842G>A c.614G>A (p.Ser205Asn) c.863G>A (p.Ser288Asn) c.677G>A (p.Ser226Asn) c.515G>A (p.Ser172Asn) c.824G>A (p.Ser275Asn) c.659G>A (p.Ser220Asn) c.908G>A (p.Ser303Asn) c.722G>A (p.Ser241Asn) n.839G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118428G>C | CA388785794 | F7 | c.755G>C (p.Ser252Thr) c.821G>C (p.Ser274Thr) c.569G>C (p.Ser190Thr) n.842G>C c.614G>C (p.Ser205Thr) c.863G>C (p.Ser288Thr) c.677G>C (p.Ser226Thr) c.515G>C (p.Ser172Thr) c.824G>C (p.Ser275Thr) c.659G>C (p.Ser220Thr) c.908G>C (p.Ser303Thr) c.722G>C (p.Ser241Thr) n.839G>C | |
| 13 | g.113118428G= | CA2120141674 | F7 | c.755G= (p.Ser252=) c.821G= (p.Ser274=) c.569G= (p.Ser190=) n.842G= c.614G= (p.Ser205=) c.863G= (p.Ser288=) c.677G= (p.Ser226=) c.515G= (p.Ser172=) c.824G= (p.Ser275=) c.659G= (p.Ser220=) c.908G= (p.Ser303=) c.722G= (p.Ser241=) n.839G= | |
| 13 | g.113118428G>T | CA388785795 | F7 | c.755G>T (p.Ser252Ile) c.821G>T (p.Ser274Ile) c.569G>T (p.Ser190Ile) n.842G>T c.614G>T (p.Ser205Ile) c.863G>T (p.Ser288Ile) c.677G>T (p.Ser226Ile) c.515G>T (p.Ser172Ile) c.824G>T (p.Ser275Ile) c.659G>T (p.Ser220Ile) c.908G>T (p.Ser303Ile) c.722G>T (p.Ser241Ile) n.839G>T | gnomAD v4 |
| 13 | g.113118429C>A | CA388785796 | F7 | c.756C>A (p.Ser252Arg) c.822C>A (p.Ser274Arg) c.570C>A (p.Ser190Arg) n.843C>A c.615C>A (p.Ser205Arg) c.864C>A (p.Ser288Arg) c.678C>A (p.Ser226Arg) c.516C>A (p.Ser172Arg) c.825C>A (p.Ser275Arg) c.660C>A (p.Ser220Arg) c.909C>A (p.Ser303Arg) c.723C>A (p.Ser241Arg) n.840C>A | dbSNP gnomAD v4 |
| 13 | g.113118429C= | CA2120141680 | F7 | c.756C= (p.Ser252=) c.822C= (p.Ser274=) c.570C= (p.Ser190=) n.843C= c.615C= (p.Ser205=) c.864C= (p.Ser288=) c.678C= (p.Ser226=) c.516C= (p.Ser172=) c.825C= (p.Ser275=) c.660C= (p.Ser220=) c.909C= (p.Ser303=) c.723C= (p.Ser241=) n.840C= | |
| 13 | g.113118429C>G | CA388785797 | F7 | c.756C>G (p.Ser252Arg) c.822C>G (p.Ser274Arg) c.570C>G (p.Ser190Arg) n.843C>G c.615C>G (p.Ser205Arg) c.864C>G (p.Ser288Arg) c.678C>G (p.Ser226Arg) c.516C>G (p.Ser172Arg) c.825C>G (p.Ser275Arg) c.660C>G (p.Ser220Arg) c.909C>G (p.Ser303Arg) c.723C>G (p.Ser241Arg) n.840C>G | |
| 13 | g.113118429C>T | CA7060131 | F7 | c.756C>T (p.Ser252=) c.822C>T (p.Ser274=) c.570C>T (p.Ser190=) n.843C>T c.615C>T (p.Ser205=) c.864C>T (p.Ser288=) c.678C>T (p.Ser226=) c.516C>T (p.Ser172=) c.825C>T (p.Ser275=) c.660C>T (p.Ser220=) c.909C>T (p.Ser303=) c.723C>T (p.Ser241=) n.840C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118430G>A | CA388785798 | F7 | c.757G>A (p.Glu253Lys) c.823G>A (p.Glu275Lys) c.571G>A (p.Glu191Lys) n.844G>A c.616G>A (p.Glu206Lys) c.865G>A (p.Glu289Lys) c.679G>A (p.Glu227Lys) c.517G>A (p.Glu173Lys) c.826G>A (p.Glu276Lys) c.661G>A (p.Glu221Lys) c.910G>A (p.Glu304Lys) c.724G>A (p.Glu242Lys) n.841G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118430G>C | CA388785799 | F7 | c.757G>C (p.Glu253Gln) c.823G>C (p.Glu275Gln) c.571G>C (p.Glu191Gln) n.844G>C c.616G>C (p.Glu206Gln) c.865G>C (p.Glu289Gln) c.679G>C (p.Glu227Gln) c.517G>C (p.Glu173Gln) c.826G>C (p.Glu276Gln) c.661G>C (p.Glu221Gln) c.910G>C (p.Glu304Gln) c.724G>C (p.Glu242Gln) n.841G>C | |
| 13 | g.113118430G= | CA2120141691 | F7 | c.757G= (p.Glu253=) c.823G= (p.Glu275=) c.571G= (p.Glu191=) n.844G= c.616G= (p.Glu206=) c.865G= (p.Glu289=) c.679G= (p.Glu227=) c.517G= (p.Glu173=) c.826G= (p.Glu276=) c.661G= (p.Glu221=) c.910G= (p.Glu304=) c.724G= (p.Glu242=) n.841G= |