17 | g.80107824C>A | CA8815081 | GAA | c.883C>A (p.His295Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107824C= | CA2277812408 | GAA | c.883C= (p.His295=)
| |
17 | g.80107824C>G | CA401363897 | GAA | c.883C>G (p.His295Asp)
| |
17 | g.80107824C>T | CA401363899 | GAA | c.883C>T (p.His295Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107825A>C | CA401363901 | GAA | c.884A>C (p.His295Pro)
| |
17 | g.80107825A>G | CA401363903 | GAA | c.884A>G (p.His295Arg)
| |
17 | g.80107825A>T | CA401363905 | GAA | c.884A>T (p.His295Leu)
| |
17 | g.80107826C>A | CA401363907 | GAA | c.885C>A (p.His295Gln)
| |
17 | g.80107826C>G | CA401363908 | GAA | c.885C>G (p.His295Gln)
| |
17 | g.80107826C>T | CA502402742 | GAA | c.885C>T (p.His295=)
| |
17 | g.80107827C>A | CA401363910 | GAA | c.886C>A (p.Pro296Thr)
| |
17 | g.80107827C>G | CA401363912 | GAA | c.886C>G (p.Pro296Ala)
| gnomAD v4 |
17 | g.80107827C>T | CA401363914 | GAA | c.886C>T (p.Pro296Ser)
| |
17 | g.80107828C>A | CA401363920 | GAA | c.887C>A (p.Pro296His)
| |
17 | g.80107828C>G | CA401363918 | GAA | c.887C>G (p.Pro296Arg)
| |
17 | g.80107828C>T | CA401363916 | GAA | c.887C>T (p.Pro296Leu)
| |
17 | g.80107829T>A | CA502402743 | GAA | c.888T>A (p.Pro296=)
| gnomAD v4 |
17 | g.80107829T>C | CA502402744 | GAA | c.888T>C (p.Pro296=)
| |
17 | g.80107829T>G | CA502402745 | GAA | c.888T>G (p.Pro296=)
| |
17 | g.80107830T>A | CA401363922 | GAA | c.889T>A (p.Phe297Ile)
| |
17 | g.80107830T>C | CA401363924 | GAA | c.889T>C (p.Phe297Leu)
| |
17 | g.80107830T>G | CA401363926 | GAA | c.889T>G (p.Phe297Val)
| |
17 | g.80107830_80107831insG | CA2697555239 | GAA | c.889_890insG (p.Phe297CysfsTer?)
| ClinVar |
17 | g.80107831T>A | CA401363928 | GAA | c.890T>A (p.Phe297Tyr)
| |
17 | g.80107831T>C | CA401363929 | GAA | c.890T>C (p.Phe297Ser)
| dbSNP |
17 | g.80107831T>G | CA401363931 | GAA | c.890T>G (p.Phe297Cys)
| |
17 | g.80107831T= | CA2277812409 | GAA | c.890T= (p.Phe297=)
| |
17 | g.80107832C>A | CA401363933 | GAA | c.891C>A (p.Phe297Leu)
| |
17 | g.80107832C>G | CA401363935 | GAA | c.891C>G (p.Phe297Leu)
| |
17 | g.80107832C>T | CA502402746 | GAA | c.891C>T (p.Phe297=)
| |
17 | g.80107833T>A | CA401363937 | GAA | c.892T>A (p.Tyr298Asn)
| |
17 | g.80107833T>C | CA401363939 | GAA | c.892T>C (p.Tyr298His)
| |
17 | g.80107833T>G | CA401363940 | GAA | c.892T>G (p.Tyr298Asp)
| |
17 | g.80107834A>C | CA401363941 | GAA | c.893A>C (p.Tyr298Ser)
| |
17 | g.80107834A>G | CA401363943 | GAA | c.893A>G (p.Tyr298Cys)
| |
17 | g.80107834A>T | CA401363945 | GAA | c.893A>T (p.Tyr298Phe)
| |
17 | g.80107835C>A | CA401363947 | GAA | c.894C>A (p.Tyr298Ter)
| |
17 | g.80107835C= | CA2277812410 | GAA | c.894C= (p.Tyr298=)
| |
17 | g.80107835C>G | CA401363948 | GAA | c.894C>G (p.Tyr298Ter)
| |
17 | g.80107835C>T | CA502402747 | GAA | c.894C>T (p.Tyr298=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107836C>A | CA401363951 | GAA | c.895C>A (p.Leu299Met)
| |
17 | g.80107836C>G | CA401363953 | GAA | c.895C>G (p.Leu299Val)
| |
17 | g.80107836C>T | CA502402748 | GAA | c.895C>T (p.Leu299=)
| |
17 | g.80107837T>A | CA401363956 | GAA | c.896T>A (p.Leu299Gln)
| |
17 | g.80107837T>C | CA273686 | GAA | c.896T>C (p.Leu299Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107837T>G | CA116601 | GAA | c.896T>G (p.Leu299Arg)
| ClinVar dbSNP |
17 | g.80107837T= | CA2277812411 | GAA | c.896T= (p.Leu299=)
| |
17 | g.80107838G>A | CA502402751 | GAA | c.897G>A (p.Leu299=)
| |
17 | g.80107838G>C | CA502402750 | GAA | c.897G>C (p.Leu299=)
| ClinVar |
17 | g.80107838G>T | CA502402749 | GAA | c.897G>T (p.Leu299=)
| |
17 | g.80107839G>A | CA401363959 | GAA | c.898G>A (p.Ala300Thr)
| |
17 | g.80107839G>C | CA401363961 | GAA | c.898G>C (p.Ala300Pro)
| |
17 | g.80107839G>T | CA401363963 | GAA | c.898G>T (p.Ala300Ser)
| |
17 | g.80107840C>A | CA401363965 | GAA | c.899C>A (p.Ala300Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107840C= | CA2277812412 | GAA | c.899C= (p.Ala300=)
| |
17 | g.80107840C>G | CA401363967 | GAA | c.899C>G (p.Ala300Gly)
| gnomAD v4 |
17 | g.80107840C>T | CA294889969 | GAA | c.899C>T (p.Ala300Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107841G>A | CA502402752 | GAA | c.900G>A (p.Ala300=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107841G>C | CA8815083 | GAA | c.900G>C (p.Ala300=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107841G= | CA2277812413 | GAA | c.900G= (p.Ala300=)
| |
17 | g.80107841G>T | CA8815082 | GAA | c.900G>T (p.Ala300=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107842C>A | CA401363972 | GAA | c.901C>A (p.Leu301Met)
| |
17 | g.80107842C= | CA2277812414 | GAA | c.901C= (p.Leu301=)
| |
17 | g.80107842C>G | CA401363973 | GAA | c.901C>G (p.Leu301Val)
| dbSNP |
17 | g.80107842C>T | CA502402753 | GAA | c.901C>T (p.Leu301=)
| |
17 | g.80107843T>A | CA401363976 | GAA | c.902T>A (p.Leu301Gln)
| |
17 | g.80107843T>C | CA401363979 | GAA | c.902T>C (p.Leu301Pro)
| |
17 | g.80107843T>G | CA401363978 | GAA | c.902T>G (p.Leu301Arg)
| dbSNP |
17 | g.80107843T= | CA2277812415 | GAA | c.902T= (p.Leu301=)
| |
17 | g.80107844G>A | CA502402755 | GAA | c.903G>A (p.Leu301=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107844G>C | CA502402757 | GAA | c.903G>C (p.Leu301=)
| |
17 | g.80107844G= | CA2277812416 | GAA | c.903G= (p.Leu301=)
| |
17 | g.80107844G>T | CA502402756 | GAA | c.903G>T (p.Leu301=)
| |
17 | g.80107845G>A | CA401363982 | GAA | c.904G>A (p.Glu302Lys)
| |
17 | g.80107845G>C | CA401363986 | GAA | c.904G>C (p.Glu302Gln)
| |
17 | g.80107845G= | CA2277812417 | GAA | c.904G= (p.Glu302=)
| |
17 | g.80107845G>T | CA401363984 | GAA | c.904G>T (p.Glu302Ter)
| ClinVar dbSNP |
17 | g.80107846A>C | CA401363988 | GAA | c.905A>C (p.Glu302Ala)
| |
17 | g.80107846A>G | CA401363990 | GAA | c.905A>G (p.Glu302Gly)
| |
17 | g.80107846A>T | CA401363993 | GAA | c.905A>T (p.Glu302Val)
| |
17 | g.80107847G>A | CA502402758 | GAA | c.906G>A (p.Glu302=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107847G>C | CA401363995 | GAA | c.906G>C (p.Glu302Asp)
| |
17 | g.80107847G= | CA2277812418 | GAA | c.906G= (p.Glu302=)
| |
17 | g.80107847G>T | CA401363997 | GAA | c.906G>T (p.Glu302Asp)
| |
17 | g.80107848G>A | CA401363999 | GAA | c.907G>A (p.Asp303Asn)
| dbSNP gnomAD v4 |
17 | g.80107848G>C | CA401364000 | GAA | c.907G>C (p.Asp303His)
| |
17 | g.80107848G= | CA2277812419 | GAA | c.907G= (p.Asp303=)
| |
17 | g.80107848G>T | CA401364002 | GAA | c.907G>T (p.Asp303Tyr)
| |
17 | g.80107849A>C | CA401364005 | GAA | c.908A>C (p.Asp303Ala)
| |
17 | g.80107849A>G | CA401364006 | GAA | c.908A>G (p.Asp303Gly)
| |
17 | g.80107849A>T | CA401364008 | GAA | c.908A>T (p.Asp303Val)
| |
17 | g.80107850C>A | CA401364012 | GAA | c.909C>A (p.Asp303Glu)
| |
17 | g.80107850C= | CA2277812420 | GAA | c.909C= (p.Asp303=)
| |
17 | g.80107850C>G | CA401364010 | GAA | c.909C>G (p.Asp303Glu)
| |
17 | g.80107850C>T | CA8815084 | GAA | c.909C>T (p.Asp303=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107851G>A | CA8815085 | GAA | c.910G>A (p.Gly304Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107851G>C | CA401364014 | GAA | c.910G>C (p.Gly304Arg)
| |
17 | g.80107851G= | CA2277812421 | GAA | c.910G= (p.Gly304=)
| |
17 | g.80107851G>T | CA401364016 | GAA | c.910G>T (p.Gly304Cys)
| |
17 | g.80107852G>A | CA401364018 | GAA | c.911G>A (p.Gly304Asp)
| |
17 | g.80107852G>C | CA401364019 | GAA | c.911G>C (p.Gly304Ala)
| |
17 | g.80107852G>T | CA401364021 | GAA | c.911G>T (p.Gly304Val)
| |
17 | g.80107853C>A | CA502402764 | GAA | c.912C>A (p.Gly304=)
| |
17 | g.80107853C= | CA2277812422 | GAA | c.912C= (p.Gly304=)
| |
17 | g.80107853C>G | CA502402766 | GAA | c.912C>G (p.Gly304=)
| |
17 | g.80107853C>T | CA8815086 | GAA | c.912C>T (p.Gly304=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107854G>A | CA8815087 | GAA | c.913G>A (p.Gly305Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107854G>C | CA401364023 | GAA | c.913G>C (p.Gly305Arg)
| |
17 | g.80107854G= | CA2277812423 | GAA | c.913G= (p.Gly305=)
| |
17 | g.80107854G>T | CA401364028 | GAA | c.913G>T (p.Gly305Trp)
| |
17 | g.80107855G>A | CA401364030 | GAA | c.914G>A (p.Gly305Glu)
| |
17 | g.80107855G>C | CA401364032 | GAA | c.914G>C (p.Gly305Ala)
| |
17 | g.80107855G>T | CA401364034 | GAA | c.914G>T (p.Gly305Val)
| |
17 | g.80107856G>A | CA198779 | GAA | c.915G>A (p.Gly305=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107856G>C | CA502402768 | GAA | c.915G>C (p.Gly305=)
| |
17 | g.80107856G= | CA2277812424 | GAA | c.915G= (p.Gly305=)
| |
17 | g.80107856G>T | CA502402769 | GAA | c.915G>T (p.Gly305=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107857T>A | CA401364040 | GAA | c.916T>A (p.Ser306Thr)
| gnomAD v4 |
17 | g.80107857T>C | CA401364036 | GAA | c.916T>C (p.Ser306Pro)
| gnomAD v4 |
17 | g.80107857T>G | CA401364038 | GAA | c.916T>G (p.Ser306Ala)
| dbSNP |
17 | g.80107857T= | CA2277812425 | GAA | c.916T= (p.Ser306=)
| |
17 | g.80107858C>A | CA401364041 | GAA | c.917C>A (p.Ser306Ter)
| ClinVar dbSNP |
17 | g.80107858C= | CA2277812426 | GAA | c.917C= (p.Ser306=)
| |
17 | g.80107858C>G | CA401364043 | GAA | c.917C>G (p.Ser306Trp)
| |
17 | g.80107858C>T | CA202989 | GAA | c.917C>T (p.Ser306Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107859G>A | CA8815088 | GAA | c.918G>A (p.Ser306=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107859G>C | CA502402770 | GAA | c.918G>C (p.Ser306=)
| |
17 | g.80107859G= | CA2277812427 | GAA | c.918G= (p.Ser306=)
| |
17 | g.80107859G>T | CA502402771 | GAA | c.918G>T (p.Ser306=)
| |
17 | g.80107860G>A | CA401364047 | GAA | c.919G>A (p.Ala307Thr)
| gnomAD v4 |
17 | g.80107860G>C | CA401364048 | GAA | c.919G>C (p.Ala307Pro)
| |
17 | g.80107860G>T | CA401364050 | GAA | c.919G>T (p.Ala307Ser)
| gnomAD v4 |
17 | g.80107861C>A | CA401364051 | GAA | c.920C>A (p.Ala307Glu)
| |
17 | g.80107861C>G | CA401364052 | GAA | c.920C>G (p.Ala307Gly)
| COSMIC |
17 | g.80107861C>T | CA401364053 | GAA | c.920C>T (p.Ala307Val)
| |
17 | g.80107864_80107865del | CA2640280280 | GAA | c.923_924del (p.His308ArgfsTer21)
| gnomAD v4 |
17 | g.80107862A= | CA2277812428 | GAA | c.921A= (p.Ala307=)
| |
17 | g.80107862A>C | CA502402773 | GAA | c.921A>C (p.Ala307=)
| ClinVar dbSNP |
17 | g.80107862A>G | CA502402774 | GAA | c.921A>G (p.Ala307=)
| |
17 | g.80107862A>T | CA145795 | GAA | c.921A>T (p.Ala307=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107863C>A | CA401364055 | GAA | c.922C>A (p.His308Asn)
| |
17 | g.80107863C= | CA2277812429 | GAA | c.922C= (p.His308=)
| |
17 | g.80107863C>G | CA401364054 | GAA | c.922C>G (p.His308Asp)
| ClinVar gnomAD v4 |
17 | g.80107863C>T | CA8815089 | GAA | c.922C>T (p.His308Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107864A>C | CA401364056 | GAA | c.923A>C (p.His308Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107864A>G | CA401364057 | GAA | c.923A>G (p.His308Arg)
| |
17 | g.80107864A>T | CA401364058 | GAA | c.923A>T (p.His308Leu)
| |
17 | g.80107865C>A | CA8815090 | GAA | c.924C>A (p.His308Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107865C= | CA2277812430 | GAA | c.924C= (p.His308=)
| |
17 | g.80107865C>G | CA401364060 | GAA | c.924C>G (p.His308Gln)
| |
17 | g.80107865C>T | CA8815091 | GAA | c.924C>T (p.His308=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107866G>A | CA273972 | GAA | c.925G>A (p.Gly309Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107866G>C | CA401364061 | GAA | c.925G>C (p.Gly309Arg)
| |
17 | g.80107866G= | CA2277812431 | GAA | c.925G= (p.Gly309=)
| |
17 | g.80107866G>T | CA401364062 | GAA | c.925G>T (p.Gly309Trp)
| ClinVar gnomAD v4 |
17 | g.80107867G>A | CA401364063 | GAA | c.926G>A (p.Gly309Glu)
| dbSNP |
17 | g.80107867G>C | CA401364064 | GAA | c.926G>C (p.Gly309Ala)
| |
17 | g.80107867G= | CA2277812432 | GAA | c.926G= (p.Gly309=)
| |
17 | g.80107867G>T | CA401364065 | GAA | c.926G>T (p.Gly309Val)
| |
17 | g.80107868G>A | CA10605937 | GAA | c.927G>A (p.Gly309=)
| ClinVar dbSNP |
17 | g.80107868G>C | CA502178032 | GAA | c.927G>C (p.Gly309=)
| |
17 | g.80107868G= | CA2277812433 | GAA | c.927G= (p.Gly309=)
| |
17 | g.80107868G>T | CA502178034 | GAA | c.927G>T (p.Gly309=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107869G>A | CA401364175 | GAA | c.928G>A (p.Val310Met)
| ClinVar gnomAD v4 |
17 | g.80107869G>C | CA401364173 | GAA | c.928G>C (p.Val310Leu)
| |
17 | g.80107869G= | CA2277812434 | GAA | c.928G= (p.Val310=)
| |
17 | g.80107869G>T | CA294891320 | GAA | c.928G>T (p.Val310Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107869_80107872delinsGTGT | CA2277812435 | GAA | c.928_931delinsGTGT (p.Val310=)
| |
17 | g.80107870T>A | CA401364177 | GAA | c.929T>A (p.Val310Glu)
| |
17 | g.80107870T>C | CA401364179 | GAA | c.929T>C (p.Val310Ala)
| |
17 | g.80107870T>G | CA8815092 | GAA | c.929T>G (p.Val310Gly)
| dbSNP ExAC gnomAD v4 |
17 | g.80107870T= | CA2277812436 | GAA | c.929T= (p.Val310=)
| |
17 | g.80107871_80107873del | CA913184760 | GAA | c.930_932del (p.Phe311del)
| dbSNP |
17 | g.80107871del | CA2739268466 | GAA | c.930del (p.Phe311SerfsTer3)
| ClinVar |
17 | g.80107871G>A | CA502178042 | GAA | c.930G>A (p.Val310=)
| ClinVar dbSNP |
17 | g.80107871G>C | CA502178043 | GAA | c.930G>C (p.Val310=)
| |
17 | g.80107871G>T | CA502178045 | GAA | c.930G>T (p.Val310=)
| |
17 | g.80107872T>A | CA401364181 | GAA | c.931T>A (p.Phe311Ile)
| |
17 | g.80107872T>C | CA401364183 | GAA | c.931T>C (p.Phe311Leu)
| |
17 | g.80107872T>G | CA401364185 | GAA | c.931T>G (p.Phe311Val)
| |
17 | g.80107873T>A | CA401364191 | GAA | c.932T>A (p.Phe311Tyr)
| |
17 | g.80107873T>C | CA401364187 | GAA | c.932T>C (p.Phe311Ser)
| |
17 | g.80107873T>G | CA401364189 | GAA | c.932T>G (p.Phe311Cys)
| |
17 | g.80107873T= | CA2277812438 | GAA | c.932T= (p.Phe311=)
| |
17 | g.80107873_80107874delinsTC | CA2277812437 | GAA | c.932_933delinsTC (p.Phe311=)
| |
17 | g.80107873_80107874insG | CA627699044 | GAA | c.932_933insG (p.Phe311LeufsTer19)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107874C>A | CA401364194 | GAA | c.933C>A (p.Phe311Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107874C= | CA2277812439 | GAA | c.933C= (p.Phe311=)
| |
17 | g.80107874C>G | CA401364195 | GAA | c.933C>G (p.Phe311Leu)
| |
17 | g.80107874C>T | CA502178052 | GAA | c.933C>T (p.Phe311=)
| |
17 | g.80107875del | CA10604123 | GAA | c.934del (p.Leu312CysfsTer2)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107875C>A | CA8815093 | GAA | c.934C>A (p.Leu312Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107875C= | CA2277812440 | GAA | c.934C= (p.Leu312=)
| |
17 | g.80107875C>G | CA401364200 | GAA | c.934C>G (p.Leu312Val)
| |
17 | g.80107875C>T | CA502178056 | GAA | c.934C>T (p.Leu312=)
| ClinVar gnomAD v4 |
17 | g.80107876del | CA2580612668 | GAA | c.935del (p.Leu312ArgfsTer2)
| ClinVar |
17 | g.80107876T>A | CA401364202 | GAA | c.935T>A (p.Leu312Gln)
| |
17 | g.80107876T>C | CA401364205 | GAA | c.935T>C (p.Leu312Pro)
| gnomAD v4 |
17 | g.80107876T>G | CA401364204 | GAA | c.935T>G (p.Leu312Arg)
| |
17 | g.80107877G>A | CA502178058 | GAA | c.936G>A (p.Leu312=)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80107877G>C | CA502178060 | GAA | c.936G>C (p.Leu312=)
| |
17 | g.80107877G= | CA2277812441 | GAA | c.936G= (p.Leu312=)
| |
17 | g.80107877G>T | CA502178062 | GAA | c.936G>T (p.Leu312=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107878C>A | CA401364208 | GAA | c.937C>A (p.Leu313Ile)
| |
17 | g.80107878C= | CA2277812442 | GAA | c.937C= (p.Leu313=)
| |
17 | g.80107878C>G | CA401364210 | GAA | c.937C>G (p.Leu313Val)
| dbSNP gnomAD v4 |
17 | g.80107878C>T | CA502178065 | GAA | c.937C>T (p.Leu313=)
| |
17 | g.80107879T>A | CA401364211 | GAA | c.938T>A (p.Leu313Gln)
| |
17 | g.80107879T>C | CA401364213 | GAA | c.938T>C (p.Leu313Pro)
| |
17 | g.80107879T>G | CA401364215 | GAA | c.938T>G (p.Leu313Arg)
| |
17 | g.80107880A>C | CA502178073 | GAA | c.939A>C (p.Leu313=)
| |
17 | g.80107880A>G | CA502178070 | GAA | c.939A>G (p.Leu313=)
| dbSNP |
17 | g.80107880A>T | CA502178071 | GAA | c.939A>T (p.Leu313=)
| |
17 | g.80107882del | CA2640280348 | GAA | c.941del (p.Asn314ThrfsTer?)
| gnomAD v4 |
17 | g.80107881A>C | CA401364217 | GAA | c.940A>C (p.Asn314His)
| |
17 | g.80107881A>G | CA401364218 | GAA | c.940A>G (p.Asn314Asp)
| |
17 | g.80107881A>T | CA401364221 | GAA | c.940A>T (p.Asn314Tyr)
| |
17 | g.80107882A>C | CA401364223 | GAA | c.941A>C (p.Asn314Thr)
| |
17 | g.80107882A>G | CA401364224 | GAA | c.941A>G (p.Asn314Ser)
| |
17 | g.80107882A>T | CA401364227 | GAA | c.941A>T (p.Asn314Ile)
| |
17 | g.80107883del | CA2640280354 | GAA | c.942del (p.Asn314LysfsTer?)
| gnomAD v4 |
17 | g.80107883C>A | CA401364229 | GAA | c.942C>A (p.Asn314Lys)
| |
17 | g.80107883C>G | CA401364230 | GAA | c.942C>G (p.Asn314Lys)
| |
17 | g.80107883C>T | CA502178080 | GAA | c.942C>T (p.Asn314=)
| ClinVar dbSNP |
17 | g.80107884A>C | CA401364233 | GAA | c.943A>C (p.Ser315Arg)
| |
17 | g.80107884A>G | CA401364234 | GAA | c.943A>G (p.Ser315Gly)
| gnomAD v4 |
17 | g.80107884A>T | CA401364236 | GAA | c.943A>T (p.Ser315Cys)
| |
17 | g.80107885G>A | CA294891343 | GAA | c.944G>A (p.Ser315Asn)
| dbSNP |
17 | g.80107885G>C | CA401364239 | GAA | c.944G>C (p.Ser315Thr)
| dbSNP gnomAD v4 COSMIC |
17 | g.80107885G= | CA2277812443 | GAA | c.944G= (p.Ser315=)
| |
17 | g.80107885G>T | CA401364240 | GAA | c.944G>T (p.Ser315Ile)
| |
17 | g.80107886C>A | CA401364242 | GAA | c.945C>A (p.Ser315Arg)
| |
17 | g.80107886C>G | CA401364243 | GAA | c.945C>G (p.Ser315Arg)
| |
17 | g.80107886C>T | CA502178086 | GAA | c.945C>T (p.Ser315=)
| gnomAD v4 |
17 | g.80107887A>C | CA401364246 | GAA | c.946A>C (p.Asn316His)
| |
17 | g.80107887A>G | CA401364248 | GAA | c.946A>G (p.Asn316Asp)
| gnomAD v4 |
17 | g.80107887A>T | CA401364250 | GAA | c.946A>T (p.Asn316Tyr)
| |
17 | g.80107888A>C | CA401364252 | GAA | c.947A>C (p.Asn316Thr)
| |
17 | g.80107888A>G | CA401364254 | GAA | c.947A>G (p.Asn316Ser)
| |
17 | g.80107888A>T | CA401364255 | GAA | c.947A>T (p.Asn316Ile)
| |
17 | g.80107889T>A | CA401364257 | GAA | c.948T>A (p.Asn316Lys)
| |
17 | g.80107889T>C | CA502178093 | GAA | c.948T>C (p.Asn316=)
| |
17 | g.80107889T>G | CA401364259 | GAA | c.948T>G (p.Asn316Lys)
| |
17 | g.80107890G>A | CA401364260 | GAA | c.949G>A (p.Ala317Thr)
| |
17 | g.80107890G>C | CA401364261 | GAA | c.949G>C (p.Ala317Pro)
| |
17 | g.80107890G>T | CA401364263 | GAA | c.949G>T (p.Ala317Ser)
| |
17 | g.80107891C>A | CA401364264 | GAA | c.950C>A (p.Ala317Asp)
| gnomAD v4 |
17 | g.80107891C= | CA2277812444 | GAA | c.950C= (p.Ala317=)
| |
17 | g.80107891C>G | CA401364265 | GAA | c.950C>G (p.Ala317Gly)
| |
17 | g.80107891C>T | CA401364267 | GAA | c.950C>T (p.Ala317Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107892C>A | CA502178100 | GAA | c.951C>A (p.Ala317=)
| gnomAD v4 |
17 | g.80107892C= | CA2277812445 | GAA | c.951C= (p.Ala317=)
| |
17 | g.80107892C>G | CA502178104 | GAA | c.951C>G (p.Ala317=)
| |
17 | g.80107892C>T | CA502178102 | GAA | c.951C>T (p.Ala317=)
| dbSNP |
17 | g.80107893A= | CA2277812446 | GAA | c.952A= (p.Met318=)
| |
17 | g.80107893A>C | CA401364270 | GAA | c.952A>C (p.Met318Leu)
| |
17 | g.80107893A>G | CA401364271 | GAA | c.952A>G (p.Met318Val)
| gnomAD v4 |
17 | g.80107893A>T | CA10606846 | GAA | c.952A>T (p.Met318Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107894T>A | CA401364275 | GAA | c.953T>A (p.Met318Lys)
| ClinVar dbSNP |
17 | g.80107894T>C | CA116590 | GAA | c.953T>C (p.Met318Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107894T>G | CA401364278 | GAA | c.953T>G (p.Met318Arg)
| |
17 | g.80107894T= | CA2277812447 | GAA | c.953T= (p.Met318=)
| |
17 | g.80107895G>A | CA401364280 | GAA | c.954G>A (p.Met318Ile)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107895G>C | CA401364284 | GAA | c.954G>C (p.Met318Ile)
| |
17 | g.80107895G>T | CA401364282 | GAA | c.954G>T (p.Met318Ile)
| gnomAD v4 |
17 | g.80107897del | CA2831038991 | GAA | c.955+1del
| |
17 | g.80107896G>A | CA401364287 | GAA | c.955G>A (p.Asp319Asn)
| ClinVar dbSNP |
17 | g.80107896G>C | CA401364291 | GAA | c.955G>C (p.Asp319His)
| |
17 | g.80107896G= | CA2277812448 | GAA | c.955G= (p.Asp319=)
| |
17 | g.80107896G>T | CA401364289 | GAA | c.955G>T (p.Asp319Tyr)
| |
17 | g.80107897G>A | CA401364293 | GAA | c.955+1G>A (n.955+1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107897G>C | CA401364297 | GAA | c.955+1G>C (n.955+1G>C)
| |
17 | g.80107897G= | CA2277812449 | GAA | c.955+1G= (n.955+1G=)
| |
17 | g.80107897G>T | CA401364295 | GAA | c.955+1G>T (n.955+1G>T)
| |
17 | g.80107898del | CA2640284550 | GAA | c.955+2del (n.955+2del)
| gnomAD v4 |
17 | g.80107898T>A | CA401364299 | GAA | c.955+2T>A (n.955+2T>A)
| |
17 | g.80107898T>C | CA401364303 | GAA | c.955+2T>C (n.955+2T>C)
| |
17 | g.80107898T>G | CA401364301 | GAA | c.955+2T>G (n.955+2T>G)
| |
17 | g.80107899A= | CA2277812450 | GAA | c.955+3A= (n.955+3A=)
| |
17 | g.80107899A>G | CA627699045 | GAA | c.955+3A>G (n.955+3A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107900del | CA2576413987 | GAA | c.955+4del (n.955+4del)
| |
17 | g.80107900A= | CA2277812452 | GAA | c.955+4A= (n.955+4A=)
| |
17 | g.80107900A>T | CA2277812453 | GAA | c.955+4A>T (n.955+4A>T)
| dbSNP |
17 | g.80107900_80107902delinsAGC | CA2277812451 | GAA | c.955+4_955+6delinsAGC (n.955+4_955+6delinsAGC)
| |
17 | g.80107901G>A | CA8815094 | GAA | c.955+5G>A (n.955+5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107901G>C | CA8815095 | GAA | c.955+5G>C (n.955+5G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107901G= | CA2277812454 | GAA | c.955+5G= (n.955+5G=)
| |
17 | g.80107901G>T | CA2640284565 | GAA | c.955+5G>T (n.955+5G>T)
| gnomAD v4 |
17 | g.80107901_80107902del | CA919905418 | GAA | c.955+5_955+6del (n.955+5_955+6del)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107902C>T | CA2640284581 | GAA | c.955+6C>T (n.955+6C>T)
| gnomAD v4 |
17 | g.80107903T>C | CA627699046 | GAA | c.955+7T>C (n.955+7T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107903T= | CA2277812455 | GAA | c.955+7T= (n.955+7T=)
| |
17 | g.80107904G>A | CA2640284585 | GAA | c.955+8G>A (n.955+8G>A)
| gnomAD v4 |
17 | g.80107904G= | CA2277812456 | GAA | c.955+8G= (n.955+8G=)
| |
17 | g.80107904G>T | CA8815096 | GAA | c.955+8G>T (n.955+8G>T)
| dbSNP ExAC gnomAD v4 |
17 | g.80107908_80107914del | CA2640284584 | GAA | c.955+12_955+18del (n.955+12_955+18del)
| ClinVar gnomAD v4 |
17 | g.80107905C>A | CA2640284586 | GAA | c.955+9C>A (n.955+9C>A)
| gnomAD v4 |
17 | g.80107905C= | CA2277812457 | GAA | c.955+9C= (n.955+9C=)
| |
17 | g.80107905C>T | CA627699047 | GAA | c.955+9C>T (n.955+9C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107906C>A | CA2573154946 | GAA | c.955+10C>A (n.955+10C>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107906C>T | CA2640284590 | GAA | c.955+10C>T (n.955+10C>T)
| gnomAD v4 |
17 | g.80107907C>A | CA2640284595 | GAA | c.955+11C>A (n.955+11C>A)
| gnomAD v4 |
17 | g.80107907C= | CA2277812458 | GAA | c.955+11C= (n.955+11C=)
| |
17 | g.80107907C>G | CA2697555241 | GAA | c.955+11C>G (n.955+11C>G)
| ClinVar |
17 | g.80107907C>T | CA8815097 | GAA | c.955+11C>T (n.955+11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107908del | CA2640284604 | GAA | c.955+12del (n.955+12del)
| gnomAD v4 |
17 | g.80107908G>A | CA145798 | GAA | c.955+12G>A (n.955+12G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107908G>C | CA775511777 | GAA | c.955+12G>C (n.955+12G>C)
| dbSNP gnomAD v4 |
17 | g.80107908G= | CA2277812459 | GAA | c.955+12G= (n.955+12G=)
| |
17 | g.80107908G>T | CA2581285021 | GAA | c.955+12G>T (n.955+12G>T)
| gnomAD v4 |
17 | g.80107909C>A | CA2640284612 | GAA | c.955+13C>A (n.955+13C>A)
| gnomAD v4 |
17 | g.80107909C= | CA2277812460 | GAA | c.955+13C= (n.955+13C=)
| |
17 | g.80107909C>G | CA8815098 | GAA | c.955+13C>G (n.955+13C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107909C>T | CA2640284614 | GAA | c.955+13C>T (n.955+13C>T)
| ClinVar gnomAD v4 |
17 | g.80107910_80107911insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC | CA986705423 | GAA | c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC (n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC)
| gnomAD v3 gnomAD v4 |
17 | g.80107910C>A | CA8815099 | GAA | c.955+14C>A (n.955+14C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107910C= | CA2277812461 | GAA | c.955+14C= (n.955+14C=)
| |
17 | g.80107910C>T | CA627699048 | GAA | c.955+14C>T (n.955+14C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107911G>A | CA8815100 | GAA | c.955+15G>A (n.955+15G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107911G>C | CA2640284649 | GAA | c.955+15G>C (n.955+15G>C)
| gnomAD v4 |
17 | g.80107911G= | CA2277812462 | GAA | c.955+15G= (n.955+15G=)
| |
17 | g.80107911G>T | CA2640284650 | GAA | c.955+15G>T (n.955+15G>T)
| gnomAD v4 |
17 | g.80107912C>A | CA2640284653 | GAA | c.955+16C>A (n.955+16C>A)
| gnomAD v4 |
17 | g.80107912C>T | CA2640284654 | GAA | c.955+16C>T (n.955+16C>T)
| gnomAD v4 |
17 | g.80107913C>A | CA2640284657 | GAA | c.955+17C>A (n.955+17C>A)
| gnomAD v4 |
17 | g.80107913C>T | CA2573154947 | GAA | c.955+17C>T (n.955+17C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107914C>A | CA2576413988 | GAA | c.955+18C>A (n.955+18C>A)
| gnomAD v4 |
17 | g.80107914C>T | CA2576413989 | GAA | c.955+18C>T (n.955+18C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107915A>G | CA2640284664 | GAA | c.955+19A>G (n.955+19A>G)
| ClinVar gnomAD v4 |
17 | g.80107915A>T | CA2640284667 | GAA | c.955+19A>T (n.955+19A>T)
| gnomAD v4 |
17 | g.80107916G>A | CA775511789 | GAA | c.955+20G>A (n.955+20G>A)
| dbSNP gnomAD v4 |
17 | g.80107916G>C | CA627699049 | GAA | c.955+20G>C (n.955+20G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107916G= | CA2277812463 | GAA | c.955+20G= (n.955+20G=)
| |
17 | g.80107916G>T | CA2640284668 | GAA | c.955+20G>T (n.955+20G>T)
| gnomAD v4 |
17 | g.80107917C>A | CA8815102 | GAA | c.955+21C>A (n.955+21C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107917C= | CA2277812464 | GAA | c.955+21C= (n.955+21C=)
| |
17 | g.80107917C>T | CA8815101 | GAA | c.955+21C>T (n.955+21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107918G>A | CA8815103 | GAA | c.955+22G>A (n.955+22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107918G>C | CA2640284675 | GAA | c.955+22G>C (n.955+22G>C)
| gnomAD v4 |
17 | g.80107918G= | CA2277812465 | GAA | c.955+22G= (n.955+22G=)
| |
17 | g.80107918G>T | CA2640284677 | GAA | c.955+22G>T (n.955+22G>T)
| gnomAD v4 |
17 | g.80107919C>A | CA2640284682 | GAA | c.955+23C>A (n.955+23C>A)
| gnomAD v4 |
17 | g.80107919C= | CA2277812466 | GAA | c.955+23C= (n.955+23C=)
| |
17 | g.80107919C>T | CA8815104 | GAA | c.955+23C>T (n.955+23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107921del | CA2640284680 | GAA | c.955+25del (n.955+25del)
| gnomAD v4 |
17 | g.80107920C>A | CA2576413990 | GAA | c.955+24C>A (n.955+24C>A)
| gnomAD v4 |
17 | g.80107921C>A | CA2640284691 | GAA | c.955+25C>A (n.955+25C>A)
| gnomAD v4 |
17 | g.80107921C= | CA2277812467 | GAA | c.955+25C= (n.955+25C=)
| |
17 | g.80107921C>T | CA8815105 | GAA | c.955+25C>T (n.955+25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107922G>A | CA8815106 | GAA | c.955+26G>A (n.955+26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107922G= | CA2277812468 | GAA | c.955+26G= (n.955+26G=)
| |
17 | g.80107922G>T | CA2576413991 | GAA | c.955+26G>T (n.955+26G>T)
| gnomAD v4 |
17 | g.80107924dup | CA919905419 | GAA | c.955+28dup (n.955+28dup)
| dbSNP |
17 | g.80107923G>A | CA2640284695 | GAA | c.955+27G>A (n.955+27G>A)
| gnomAD v4 |
17 | g.80107923G>T | CA2640284697 | GAA | c.955+27G>T (n.955+27G>T)
| gnomAD v4 |
17 | g.80107924G>A | CA627699052 | GAA | c.955+28G>A (n.955+28G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107924G= | CA2277812469 | GAA | c.955+28G= (n.955+28G=)
| |
17 | g.80107924G>T | CA2640284702 | GAA | c.955+28G>T (n.955+28G>T)
| gnomAD v4 |