Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.72888407G>A | CA347231530 | SPR | c.398G>A (p.Cys133Tyr) n.356-13G>A | |
2 | g.72888407G>C | CA347231531 | SPR | c.398G>C (p.Cys133Ser) n.356-13G>C | |
2 | g.72888407G= | CA1260703862 | SPR | c.398G= (p.Cys133=) n.356-13G= | |
2 | g.72888407G>T | CA347231532 | SPR | c.398G>T (p.Cys133Phe) n.356-13G>T | ClinVar dbSNP |
2 | g.72888408C>A | CA347231533 | SPR | c.399C>A (p.Cys133Ter) n.356-12C>A | |
2 | g.72888408C>G | CA347231534 | SPR | c.399C>G (p.Cys133Trp) n.356-12C>G | |
2 | g.72888408C>T | CA426759534 | SPR | c.399C>T (p.Cys133=) n.356-12C>T | COSMIC |
2 | g.72888409C>A | CA347231535 | SPR | c.400C>A (p.Leu134Met) n.356-11C>A | |
2 | g.72888409C>G | CA347231536 | SPR | c.400C>G (p.Leu134Val) n.356-11C>G | |
2 | g.72888409C>T | CA426759540 | SPR | c.400C>T (p.Leu134=) n.356-11C>T | |
2 | g.72888410T>A | CA347231537 | SPR | c.401T>A (p.Leu134Gln) n.356-10T>A | |
2 | g.72888410T>C | CA347231538 | SPR | c.401T>C (p.Leu134Pro) n.356-10T>C | dbSNP gnomAD v4 |
2 | g.72888410T>G | CA347231539 | SPR | c.401T>G (p.Leu134Arg) n.356-10T>G | |
2 | g.72888410T= | CA1260703863 | SPR | c.401T= (p.Leu134=) n.356-10T= | |
2 | g.72888411G>A | CA426759544 | SPR | c.402G>A (p.Leu134=) n.356-9G>A | gnomAD v4 |
2 | g.72888411G>C | CA426759545 | SPR | c.402G>C (p.Leu134=) n.356-9G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888411G= | CA1260703864 | SPR | c.402G= (p.Leu134=) n.356-9G= | |
2 | g.72888411G>T | CA426759548 | SPR | c.402G>T (p.Leu134=) n.356-9G>T | |
2 | g.72888412A>C | CA347231540 | SPR | c.403A>C (p.Thr135Pro) n.356-8A>C | |
2 | g.72888412A>G | CA347231543 | SPR | c.403A>G (p.Thr135Ala) n.356-8A>G | |
2 | g.72888412A>T | CA347231541 | SPR | c.403A>T (p.Thr135Ser) n.356-8A>T | |
2 | g.72888413C>A | CA347231545 | SPR | c.404C>A (p.Thr135Asn) n.356-7C>A | |
2 | g.72888413C>G | CA347231547 | SPR | c.404C>G (p.Thr135Ser) n.356-7C>G | |
2 | g.72888413C>T | CA347231548 | SPR | c.404C>T (p.Thr135Ile) n.356-7C>T | |
2 | g.72888414T>A | CA426759555 | SPR | c.405T>A (p.Thr135=) n.356-6T>A | |
2 | g.72888414T>C | CA426759559 | SPR | c.405T>C (p.Thr135=) n.356-6T>C | gnomAD v4 |
2 | g.72888414T>G | CA426759562 | SPR | c.405T>G (p.Thr135=) n.356-6T>G | |
2 | g.72888415T>A | CA347231552 | SPR | c.406T>A (p.Ser136Thr) n.356-5T>A | |
2 | g.72888415T>C | CA347231553 | SPR | c.406T>C (p.Ser136Pro) n.356-5T>C | |
2 | g.72888415T>G | CA347231554 | SPR | c.406T>G (p.Ser136Ala) n.356-5T>G | |
2 | g.72888416C>A | CA347231557 | SPR | c.407C>A (p.Ser136Tyr) n.356-4C>A | |
2 | g.72888416C>G | CA347231559 | SPR | c.407C>G (p.Ser136Cys) n.356-4C>G | ClinVar |
2 | g.72888416C>T | CA347231560 | SPR | c.407C>T (p.Ser136Phe) n.356-4C>T | gnomAD v4 |
2 | g.72888417C>A | CA426759572 | SPR | c.408C>A (p.Ser136=) n.356-3C>A | |
2 | g.72888417C>G | CA426759576 | SPR | c.408C>G (p.Ser136=) n.356-3C>G | |
2 | g.72888417C>T | CA426759579 | SPR | c.408C>T (p.Ser136=) n.356-3C>T | |
2 | g.72888418A>C | CA347231566 | SPR | c.409A>C (p.Ser137Arg) n.356-2A>C | |
2 | g.72888418A>G | CA347231564 | SPR | c.409A>G (p.Ser137Gly) n.356-2A>G | |
2 | g.72888418A>T | CA347231562 | SPR | c.409A>T (p.Ser137Cys) n.356-2A>T | |
2 | g.72888419G>A | CA347231568 | SPR | c.410G>A (p.Ser137Asn) n.356-1G>A | dbSNP COSMIC |
2 | g.72888419G>C | CA347231570 | SPR | c.410G>C (p.Ser137Thr) n.356-1G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888419G= | CA1260703865 | SPR | c.410G= (p.Ser137=) n.356-1G= | |
2 | g.72888419G>T | CA347231572 | SPR | c.410G>T (p.Ser137Ile) n.356-1G>T | |
2 | g.72888420C>A | CA347231574 | SPR | c.411C>A (p.Ser137Arg) n.356C>A | gnomAD v4 |
2 | g.72888420C>G | CA347231576 | SPR | c.411C>G (p.Ser137Arg) n.356C>G | |
2 | g.72888420C>T | CA426759585 | SPR | c.411C>T (p.Ser137=) n.356C>T | gnomAD v4 |
2 | g.72888421G>A | CA1708950 | SPR | c.412G>A (p.Val138Ile) n.357G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888421G>C | CA1708949 | SPR | c.412G>C (p.Val138Leu) n.357G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888421G= | CA1260703866 | SPR | c.412G= (p.Val138=) n.357G= | |
2 | g.72888421G>T | CA1708948 | SPR | c.412G>T (p.Val138Phe) n.357G>T | dbSNP ExAC gnomAD v2 |
2 | g.72888422T>A | CA347231581 | SPR | c.413T>A (p.Val138Asp) n.358T>A | |
2 | g.72888422T>C | CA347231584 | SPR | c.413T>C (p.Val138Ala) n.358T>C | |
2 | g.72888422T>G | CA347231586 | SPR | c.413T>G (p.Val138Gly) n.358T>G | |
2 | g.72888423C>A | CA426759594 | SPR | c.414C>A (p.Val138=) n.359C>A | |
2 | g.72888423C= | CA1260703867 | SPR | c.414C= (p.Val138=) n.359C= | |
2 | g.72888423C>G | CA426759595 | SPR | c.414C>G (p.Val138=) n.359C>G | |
2 | g.72888423C>T | CA49796157 | SPR | c.414C>T (p.Val138=) n.359C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.72888424C>A | CA347231589 | SPR | c.415C>A (p.Leu139Met) n.360C>A | |
2 | g.72888424C>G | CA347231591 | SPR | c.415C>G (p.Leu139Val) n.360C>G | gnomAD v4 |
2 | g.72888424C>T | CA426759596 | SPR | c.415C>T (p.Leu139=) n.360C>T | |
2 | g.72888425T>A | CA347231593 | SPR | c.416T>A (p.Leu139Gln) n.361T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888425T>C | CA347231597 | SPR | c.416T>C (p.Leu139Pro) n.361T>C | |
2 | g.72888425T>G | CA347231595 | SPR | c.416T>G (p.Leu139Arg) n.361T>G | |
2 | g.72888425T= | CA1260703868 | SPR | c.416T= (p.Leu139=) n.361T= | |
2 | g.72888426G>A | CA426759605 | SPR | c.417G>A (p.Leu139=) n.362G>A | ClinVar |
2 | g.72888426G>C | CA426759608 | SPR | c.417G>C (p.Leu139=) n.362G>C | gnomAD v4 |
2 | g.72888426G>T | CA426759611 | SPR | c.417G>T (p.Leu139=) n.362G>T | |
2 | g.72888427A= | CA1260703869 | SPR | c.418A= (p.Lys140=) n.363A= | |
2 | g.72888427A>C | CA347231599 | SPR | c.418A>C (p.Lys140Gln) n.363A>C | |
2 | g.72888427A>G | CA347231600 | SPR | c.418A>G (p.Lys140Glu) n.363A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888427A>T | CA347231602 | SPR | c.418A>T (p.Lys140Ter) n.363A>T | |
2 | g.72888428A>C | CA347231604 | SPR | c.419A>C (p.Lys140Thr) n.364A>C | |
2 | g.72888428A>G | CA347231606 | SPR | c.419A>G (p.Lys140Arg) n.364A>G | |
2 | g.72888428A>T | CA347231608 | SPR | c.419A>T (p.Lys140Met) n.364A>T | |
2 | g.72888429G>A | CA426759618 | SPR | c.420G>A (p.Lys140=) n.365G>A | dbSNP |
2 | g.72888429G>C | CA347231610 | SPR | c.420G>C (p.Lys140Asn) n.365G>C | |
2 | g.72888429G= | CA1260703870 | SPR | c.420G= (p.Lys140=) n.365G= | |
2 | g.72888429G>T | CA347231612 | SPR | c.420G>T (p.Lys140Asn) n.365G>T | |
2 | g.72888430G>A | CA347231614 | SPR | c.421G>A (p.Ala141Thr) n.366G>A | |
2 | g.72888430G>C | CA347231615 | SPR | c.421G>C (p.Ala141Pro) n.366G>C | |
2 | g.72888430G>T | CA347231617 | SPR | c.421G>T (p.Ala141Ser) n.366G>T | |
2 | g.72888431C>A | CA347231621 | SPR | c.422C>A (p.Ala141Asp) n.367C>A | |
2 | g.72888431C= | CA1260703871 | SPR | c.422C= (p.Ala141=) n.367C= | |
2 | g.72888431C>G | CA1708951 | SPR | c.422C>G (p.Ala141Gly) n.367C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888431C>T | CA347231619 | SPR | c.422C>T (p.Ala141Val) n.367C>T | dbSNP gnomAD v4 |
2 | g.72888432C>A | CA426759627 | SPR | c.423C>A (p.Ala141=) n.368C>A | |
2 | g.72888432C>G | CA426759632 | SPR | c.423C>G (p.Ala141=) n.368C>G | |
2 | g.72888432C>T | CA426759633 | SPR | c.423C>T (p.Ala141=) n.368C>T | gnomAD v4 |
2 | g.72888433T>A | CA347231626 | SPR | c.424T>A (p.Phe142Ile) n.369T>A | |
2 | g.72888433T>C | CA1708952 | SPR | c.424T>C (p.Phe142Leu) n.369T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888433T>G | CA347231624 | SPR | c.424T>G (p.Phe142Val) n.369T>G | |
2 | g.72888433T= | CA1260703872 | SPR | c.424T= (p.Phe142=) n.369T= | |
2 | g.72888434T>A | CA347231628 | SPR | c.425T>A (p.Phe142Tyr) n.370T>A | |
2 | g.72888434T>C | CA347231630 | SPR | c.425T>C (p.Phe142Ser) n.370T>C | |
2 | g.72888434T>G | CA347231632 | SPR | c.425T>G (p.Phe142Cys) n.370T>G | |
2 | g.72888435C>A | CA347231634 | SPR | c.426C>A (p.Phe142Leu) n.371C>A | |
2 | g.72888435C>G | CA347231636 | SPR | c.426C>G (p.Phe142Leu) n.371C>G | |
2 | g.72888435C>T | CA426759643 | SPR | c.426C>T (p.Phe142=) n.371C>T | gnomAD v4 |
2 | g.72888436C>A | CA347231638 | SPR | c.427C>A (p.Pro143Thr) n.372C>A | |
2 | g.72888436C= | CA1260703873 | SPR | c.427C= (p.Pro143=) n.372C= | |
2 | g.72888436C>G | CA347231642 | SPR | c.427C>G (p.Pro143Ala) n.372C>G | ClinVar |
2 | g.72888436C>T | CA347231640 | SPR | c.427C>T (p.Pro143Ser) n.372C>T | dbSNP |
2 | g.72888437C>A | CA347231643 | SPR | c.428C>A (p.Pro143Gln) n.373C>A | |
2 | g.72888437C= | CA1260703874 | SPR | c.428C= (p.Pro143=) n.373C= | |
2 | g.72888437C>G | CA347231645 | SPR | c.428C>G (p.Pro143Arg) n.373C>G | ClinVar gnomAD v4 |
2 | g.72888437C>T | CA347231646 | SPR | c.428C>T (p.Pro143Leu) n.373C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888438G>A | CA426759651 | SPR | c.429G>A (p.Pro143=) n.374G>A | ClinVar dbSNP gnomAD v4 |
2 | g.72888438G>C | CA426759654 | SPR | c.429G>C (p.Pro143=) n.374G>C | |
2 | g.72888438G= | CA1260703875 | SPR | c.429G= (p.Pro143=) n.374G= | |
2 | g.72888438G>T | CA1708953 | SPR | c.429G>T (p.Pro143=) n.374G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888439G>A | CA347231653 | SPR | c.430G>A (p.Asp144Asn) n.375G>A | |
2 | g.72888439G>C | CA347231649 | SPR | c.430G>C (p.Asp144His) n.375G>C | |
2 | g.72888439G>T | CA347231651 | SPR | c.430G>T (p.Asp144Tyr) n.375G>T | |
2 | g.72888440A= | CA1260703876 | SPR | c.431A= (p.Asp144=) n.376A= | |
2 | g.72888440A>C | CA347231655 | SPR | c.431A>C (p.Asp144Ala) n.376A>C | dbSNP |
2 | g.72888440A>G | CA347231657 | SPR | c.431A>G (p.Asp144Gly) n.376A>G | |
2 | g.72888440A>T | CA1708954 | SPR | c.431A>T (p.Asp144Val) n.376A>T | dbSNP ExAC gnomAD v2 |
2 | g.72888441C>A | CA347231660 | SPR | c.432C>A (p.Asp144Glu) n.377C>A | |
2 | g.72888441C= | CA1260703877 | SPR | c.432C= (p.Asp144=) n.377C= | |
2 | g.72888441C>G | CA347231662 | SPR | c.432C>G (p.Asp144Glu) n.377C>G | |
2 | g.72888441C>T | CA426759662 | SPR | c.432C>T (p.Asp144=) n.377C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72888442A>C | CA347231664 | SPR | c.433A>C (p.Ser145Arg) n.378A>C | gnomAD v4 |
2 | g.72888442A>G | CA347231666 | SPR | c.433A>G (p.Ser145Gly) n.378A>G | |
2 | g.72888442A>T | CA347231668 | SPR | c.433A>T (p.Ser145Cys) n.378A>T | |
2 | g.72888443G>A | CA347231670 | SPR | c.434G>A (p.Ser145Asn) n.379G>A | |
2 | g.72888443G>C | CA347231672 | SPR | c.434G>C (p.Ser145Thr) n.379G>C | |
2 | g.72888443G>T | CA347231674 | SPR | c.434G>T (p.Ser145Ile) n.379G>T | |
2 | g.72888444T>A | CA347231676 | SPR | c.435T>A (p.Ser145Arg) n.380T>A | |
2 | g.72888444T>C | CA426759668 | SPR | c.435T>C (p.Ser145=) n.380T>C | |
2 | g.72888444T>G | CA347231678 | SPR | c.435T>G (p.Ser145Arg) n.380T>G | |
2 | g.72888445C>A | CA347231684 | SPR | c.436C>A (p.Pro146Thr) n.381C>A | ClinVar dbSNP gnomAD v4 |
2 | g.72888445C= | CA1260703878 | SPR | c.436C= (p.Pro146=) n.381C= | |
2 | g.72888445C>G | CA347231680 | SPR | c.436C>G (p.Pro146Ala) n.381C>G | |
2 | g.72888445C>T | CA347231682 | SPR | c.436C>T (p.Pro146Ser) n.381C>T | gnomAD v4 |
2 | g.72888446C>A | CA347231686 | SPR | c.437C>A (p.Pro146His) n.382C>A | |
2 | g.72888446C= | CA1260703879 | SPR | c.437C= (p.Pro146=) n.382C= | |
2 | g.72888446C>G | CA1708955 | SPR | c.437C>G (p.Pro146Arg) n.382C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888446C>T | CA347231689 | SPR | c.437C>T (p.Pro146Leu) n.382C>T | |
2 | g.72888447T>A | CA1708956 | SPR | c.438T>A (p.Pro146=) n.383T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888447T>C | CA426759676 | SPR | c.438T>C (p.Pro146=) n.383T>C | gnomAD v4 |
2 | g.72888447T>G | CA1708957 | SPR | c.438T>G (p.Pro146=) n.383T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888447T= | CA1260703880 | SPR | c.438T= (p.Pro146=) n.383T= | |
2 | g.72888448G>A | CA49796197 | SPR | c.439G>A (p.Gly147Ser) n.384G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72888448G>C | CA347231695 | SPR | c.439G>C (p.Gly147Arg) n.384G>C | |
2 | g.72888448G= | CA1260703881 | SPR | c.439G= (p.Gly147=) n.384G= | |
2 | g.72888448G>T | CA347231693 | SPR | c.439G>T (p.Gly147Cys) n.384G>T | |
2 | g.72888449G>A | CA347231699 | SPR | c.440G>A (p.Gly147Asp) n.385G>A | |
2 | g.72888449G>C | CA347231700 | SPR | c.440G>C (p.Gly147Ala) n.385G>C | |
2 | g.72888449G>T | CA347231702 | SPR | c.440G>T (p.Gly147Val) n.385G>T | |
2 | g.72888450C>A | CA426759685 | SPR | c.441C>A (p.Gly147=) n.386C>A | |
2 | g.72888450C>G | CA426759686 | SPR | c.441C>G (p.Gly147=) n.386C>G | |
2 | g.72888450C>T | CA426759683 | SPR | c.441C>T (p.Gly147=) n.386C>T | |
2 | g.72888451C>A | CA1708958 | SPR | c.442C>A (p.Leu148Ile) n.387C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888451C= | CA1260703882 | SPR | c.442C= (p.Leu148=) n.387C= | |
2 | g.72888451C>G | CA347231705 | SPR | c.442C>G (p.Leu148Val) n.387C>G | |
2 | g.72888451C>T | CA347231706 | SPR | c.442C>T (p.Leu148Phe) n.387C>T | |
2 | g.72888452T>A | CA347231708 | SPR | c.443T>A (p.Leu148His) n.388T>A | |
2 | g.72888452T>C | CA347231711 | SPR | c.443T>C (p.Leu148Pro) n.388T>C | |
2 | g.72888452T>G | CA347231710 | SPR | c.443T>G (p.Leu148Arg) n.388T>G | |
2 | g.72888453C>A | CA426759525 | SPR | c.444C>A (p.Leu148=) n.389C>A | COSMIC |
2 | g.72888453C>G | CA426759528 | SPR | c.444C>G (p.Leu148=) n.389C>G | |
2 | g.72888453C>T | CA426759532 | SPR | c.444C>T (p.Leu148=) n.389C>T | |
2 | g.72888453_72888458delinsCAACAG | CA1260703883 | SPR | c.444_449delinsCAACAG (p.Leu148=) n.389_394delinsCAACAG | |
2 | g.72888454A>C | CA347231714 | SPR | c.445A>C (p.Asn149His) n.390A>C | |
2 | g.72888454A>G | CA347231716 | SPR | c.445A>G (p.Asn149Asp) n.390A>G | |
2 | g.72888454A>T | CA347231718 | SPR | c.445A>T (p.Asn149Tyr) n.390A>T | |
2 | g.72888457_72888461del | CA122792 | SPR | c.448_452del (p.Thr151GlyfsTer2) n.393_397del | ClinVar dbSNP gnomAD v4 |
2 | g.72888455A= | CA1260703884 | SPR | c.446A= (p.Asn149=) n.391A= | |
2 | g.72888455A>C | CA347231721 | SPR | c.446A>C (p.Asn149Thr) n.391A>C | |
2 | g.72888455A>G | CA347231723 | SPR | c.446A>G (p.Asn149Ser) n.391A>G | dbSNP gnomAD v4 |
2 | g.72888455A>T | CA347231724 | SPR | c.446A>T (p.Asn149Ile) n.391A>T | |
2 | g.72888456C>A | CA347231727 | SPR | c.447C>A (p.Asn149Lys) n.392C>A | gnomAD v4 |
2 | g.72888456C= | CA1260703885 | SPR | c.447C= (p.Asn149=) n.392C= | |
2 | g.72888456C>G | CA347231728 | SPR | c.447C>G (p.Asn149Lys) n.392C>G | |
2 | g.72888456C>T | CA426759535 | SPR | c.447C>T (p.Asn149=) n.392C>T | dbSNP |
2 | g.72888457A= | CA1260703886 | SPR | c.448A= (p.Arg150=) n.393A= | |
2 | g.72888457A>C | CA426759536 | SPR | c.448A>C (p.Arg150=) n.393A>C | |
2 | g.72888457A>G | CA122793 | SPR | c.448A>G (p.Arg150Gly) n.393A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888457A>T | CA347231731 | SPR | c.448A>T (p.Arg150Ter) n.393A>T | |
2 | g.72888458G>A | CA347231733 | SPR | c.449G>A (p.Arg150Lys) n.394G>A | |
2 | g.72888458G>C | CA347231737 | SPR | c.449G>C (p.Arg150Thr) n.394G>C | gnomAD v4 |
2 | g.72888458G>T | CA347231735 | SPR | c.449G>T (p.Arg150Ile) n.394G>T | |
2 | g.72888459A>C | CA347231738 | SPR | c.450A>C (p.Arg150Ser) n.395A>C | |
2 | g.72888459A>G | CA426759541 | SPR | c.450A>G (p.Arg150=) n.395A>G | gnomAD v4 |
2 | g.72888459A>T | CA347231739 | SPR | c.450A>T (p.Arg150Ser) n.395A>T | |
2 | g.72888460A>C | CA347231742 | SPR | c.451A>C (p.Thr151Pro) n.396A>C | |
2 | g.72888460A>G | CA347231743 | SPR | c.451A>G (p.Thr151Ala) n.396A>G | |
2 | g.72888460A>T | CA347231745 | SPR | c.451A>T (p.Thr151Ser) n.396A>T | |
2 | g.72888461C>A | CA347231746 | SPR | c.452C>A (p.Thr151Asn) n.397C>A | |
2 | g.72888461C>G | CA347231747 | SPR | c.452C>G (p.Thr151Ser) n.397C>G | |
2 | g.72888461C>T | CA347231749 | SPR | c.452C>T (p.Thr151Ile) n.397C>T | gnomAD v4 |
2 | g.72888462C>A | CA426759551 | SPR | c.453C>A (p.Thr151=) n.398C>A | |
2 | g.72888462C= | CA1260703887 | SPR | c.453C= (p.Thr151=) n.398C= | |
2 | g.72888462C>G | CA426759552 | SPR | c.453C>G (p.Thr151=) n.398C>G | |
2 | g.72888462C>T | CA49796246 | SPR | c.453C>T (p.Thr151=) n.398C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.72888463G>A | CA1708959 | SPR | c.454G>A (p.Val152Met) n.399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888463G>C | CA347231751 | SPR | c.454G>C (p.Val152Leu) n.399G>C | |
2 | g.72888463G= | CA1260703888 | SPR | c.454G= (p.Val152=) n.399G= | |
2 | g.72888463G>T | CA347231753 | SPR | c.454G>T (p.Val152Leu) n.399G>T | |
2 | g.72888464T>A | CA347231754 | SPR | c.455T>A (p.Val152Glu) n.400T>A | gnomAD v4 |
2 | g.72888464T>C | CA347231756 | SPR | c.455T>C (p.Val152Ala) n.400T>C | ClinVar dbSNP COSMIC |
2 | g.72888464T>G | CA347231758 | SPR | c.455T>G (p.Val152Gly) n.400T>G | |
2 | g.72888465G>A | CA426759561 | SPR | c.456G>A (p.Val152=) n.401G>A | |
2 | g.72888465G>C | CA426759563 | SPR | c.456G>C (p.Val152=) n.401G>C | |
2 | g.72888465G>T | CA426759564 | SPR | c.456G>T (p.Val152=) n.401G>T | gnomAD v4 |
2 | g.72888466G>A | CA347231763 | SPR | c.457G>A (p.Val153Ile) n.402G>A | |
2 | g.72888466G>C | CA347231760 | SPR | c.457G>C (p.Val153Leu) n.402G>C | |
2 | g.72888466G>T | CA347231761 | SPR | c.457G>T (p.Val153Phe) n.402G>T | |
2 | g.72888467T>A | CA347231765 | SPR | c.458T>A (p.Val153Asp) n.403T>A | |
2 | g.72888467T>C | CA347231767 | SPR | c.458T>C (p.Val153Ala) n.403T>C | |
2 | g.72888467T>G | CA347231768 | SPR | c.458T>G (p.Val153Gly) n.403T>G | |
2 | g.72888468T>A | CA426759569 | SPR | c.459T>A (p.Val153=) n.404T>A | |
2 | g.72888468T>C | CA426759570 | SPR | c.459T>C (p.Val153=) n.404T>C | |
2 | g.72888468T>G | CA426759571 | SPR | c.459T>G (p.Val153=) n.404T>G | |
2 | g.72888469A>C | CA347231770 | SPR | c.460A>C (p.Asn154His) n.405A>C | |
2 | g.72888469A>G | CA347231772 | SPR | c.460A>G (p.Asn154Asp) n.405A>G | |
2 | g.72888469A>T | CA347231773 | SPR | c.460A>T (p.Asn154Tyr) n.405A>T | |
2 | g.72888470A= | CA1260703889 | SPR | c.461A= (p.Asn154=) n.406A= | |
2 | g.72888470A>C | CA347231774 | SPR | c.461A>C (p.Asn154Thr) n.406A>C | |
2 | g.72888470A>G | CA347231775 | SPR | c.461A>G (p.Asn154Ser) n.406A>G | dbSNP |
2 | g.72888470A>T | CA347231777 | SPR | c.461A>T (p.Asn154Ile) n.406A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72888471C>A | CA347231779 | SPR | c.462C>A (p.Asn154Lys) n.407C>A | |
2 | g.72888471C>G | CA347231781 | SPR | c.462C>G (p.Asn154Lys) n.407C>G | |
2 | g.72888471C>T | CA426759574 | SPR | c.462C>T (p.Asn154=) n.407C>T | |
2 | g.72888472A>C | CA347231786 | SPR | c.463A>C (p.Ile155Leu) n.408A>C | |
2 | g.72888472A>G | CA347231784 | SPR | c.463A>G (p.Ile155Val) n.408A>G | gnomAD v4 |
2 | g.72888472A>T | CA347231782 | SPR | c.463A>T (p.Ile155Phe) n.408A>T | |
2 | g.72888472_72888473del | CA2750449296 | SPR | c.463_464del (p.Ile155LeufsTer23) n.408_409del | |
2 | g.72888473T>A | CA347231788 | SPR | c.464T>A (p.Ile155Asn) n.409T>A | |
2 | g.72888473T>C | CA347231789 | SPR | c.464T>C (p.Ile155Thr) n.409T>C | gnomAD v4 |
2 | g.72888473T>G | CA347231791 | SPR | c.464T>G (p.Ile155Ser) n.409T>G | |
2 | g.72888474C>A | CA426759581 | SPR | c.465C>A (p.Ile155=) n.410C>A | dbSNP |
2 | g.72888474C= | CA1260703890 | SPR | c.465C= (p.Ile155=) n.410C= | |
2 | g.72888474C>G | CA347231793 | SPR | c.465C>G (p.Ile155Met) n.410C>G | |
2 | g.72888474C>T | CA426759582 | SPR | c.465C>T (p.Ile155=) n.410C>T | |
2 | g.72888475T>A | CA347231795 | SPR | c.466T>A (p.Ser156Thr) n.411T>A | |
2 | g.72888475T>C | CA347231797 | SPR | c.466T>C (p.Ser156Pro) n.411T>C | |
2 | g.72888475T>G | CA347231799 | SPR | c.466T>G (p.Ser156Ala) n.411T>G | |
2 | g.72888476C>A | CA347231801 | SPR | c.467C>A (p.Ser156Ter) n.412C>A | |
2 | g.72888476C= | CA1260703891 | SPR | c.467C= (p.Ser156=) n.412C= | |
2 | g.72888476C>G | CA347231803 | SPR | c.467C>G (p.Ser156Trp) n.412C>G | |
2 | g.72888476C>T | CA1708960 | SPR | c.467C>T (p.Ser156Leu) n.412C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888477G>A | CA1708961 | SPR | c.468G>A (p.Ser156=) n.413G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888477G>C | CA426759586 | SPR | c.468G>C (p.Ser156=) n.413G>C | gnomAD v4 |
2 | g.72888477G= | CA1260703892 | SPR | c.468G= (p.Ser156=) n.413G= | |
2 | g.72888477G>T | CA426759587 | SPR | c.468G>T (p.Ser156=) n.413G>T | COSMIC |
2 | g.72888478T>A | CA347231806 | SPR | c.469T>A (p.Ser157Thr) n.414T>A | |
2 | g.72888478T>C | CA347231807 | SPR | c.469T>C (p.Ser157Pro) n.414T>C | |
2 | g.72888478T>G | CA347231809 | SPR | c.469T>G (p.Ser157Ala) n.414T>G | |
2 | g.72888479C>A | CA347231811 | SPR | c.470C>A (p.Ser157Tyr) n.415C>A | |
2 | g.72888479C= | CA1260703893 | SPR | c.470C= (p.Ser157=) n.415C= | |
2 | g.72888479C>G | CA347231815 | SPR | c.470C>G (p.Ser157Cys) n.415C>G | dbSNP gnomAD v4 |
2 | g.72888479C>T | CA347231813 | SPR | c.470C>T (p.Ser157Phe) n.415C>T | dbSNP gnomAD v2 |
2 | g.72888480C>A | CA426759592 | SPR | c.471C>A (p.Ser157=) n.416C>A | |
2 | g.72888480C= | CA1260703894 | SPR | c.471C= (p.Ser157=) n.416C= | |
2 | g.72888480C>G | CA426759593 | SPR | c.471C>G (p.Ser157=) n.416C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888480C>T | CA1708962 | SPR | c.471C>T (p.Ser157=) n.416C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888481C>A | CA347231818 | SPR | c.472C>A (p.Leu158Ile) n.417C>A | |
2 | g.72888481C= | CA1260703895 | SPR | c.472C= (p.Leu158=) n.417C= | |
2 | g.72888481C>G | CA347231819 | SPR | c.472C>G (p.Leu158Val) n.417C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888481C>T | CA347231821 | SPR | c.472C>T (p.Leu158Phe) n.417C>T | ClinVar dbSNP |
2 | g.72888482T>A | CA347231823 | SPR | c.473T>A (p.Leu158His) n.418T>A | |
2 | g.72888482T>C | CA347231825 | SPR | c.473T>C (p.Leu158Pro) n.418T>C | |
2 | g.72888482T>G | CA347231826 | SPR | c.473T>G (p.Leu158Arg) n.418T>G | |
2 | g.72888483C>A | CA426759603 | SPR | c.474C>A (p.Leu158=) n.419C>A | |
2 | g.72888483C>G | CA426759604 | SPR | c.474C>G (p.Leu158=) n.419C>G | |
2 | g.72888483C>T | CA426759606 | SPR | c.474C>T (p.Leu158=) n.419C>T | |
2 | g.72888483_72888485delinsCTG | CA1260703896 | SPR | c.474_476delinsCTG (p.Leu158=) n.419_421delinsCTG | |
2 | g.72888484T>A | CA347231827 | SPR | c.475T>A (p.Cys159Ser) n.420T>A | |
2 | g.72888484T>C | CA347231828 | SPR | c.475T>C (p.Cys159Arg) n.420T>C | |
2 | g.72888484T>G | CA347231829 | SPR | c.475T>G (p.Cys159Gly) n.420T>G | |
2 | g.72888486_72888487del | CA1708963 | SPR | c.477_478del (p.Ala160ProfsTer18) n.422_423del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888485G>A | CA347231831 | SPR | c.476G>A (p.Cys159Tyr) n.421G>A | |
2 | g.72888485G>C | CA347231832 | SPR | c.476G>C (p.Cys159Ser) n.421G>C | |
2 | g.72888485G>T | CA347231830 | SPR | c.476G>T (p.Cys159Phe) n.421G>T | |
2 | g.72888486T>A | CA347231834 | SPR | c.477T>A (p.Cys159Ter) n.422T>A | dbSNP |
2 | g.72888486T>C | CA426759615 | SPR | c.477T>C (p.Cys159=) n.422T>C | ClinVar dbSNP |
2 | g.72888486T>G | CA347231833 | SPR | c.477T>G (p.Cys159Trp) n.422T>G | |
2 | g.72888486T= | CA1260703897 | SPR | c.477T= (p.Cys159=) n.422T= | |
2 | g.72888487G>A | CA347231835 | SPR | c.478G>A (p.Ala160Thr) n.423G>A | |
2 | g.72888487G>C | CA347231836 | SPR | c.478G>C (p.Ala160Pro) n.423G>C | |
2 | g.72888487G>T | CA347231837 | SPR | c.478G>T (p.Ala160Ser) n.423G>T | |
2 | g.72888488C>A | CA347231838 | SPR | c.479C>A (p.Ala160Asp) n.424C>A | |
2 | g.72888488C>G | CA347231839 | SPR | c.479C>G (p.Ala160Gly) n.424C>G | |
2 | g.72888488C>T | CA347231840 | SPR | c.479C>T (p.Ala160Val) n.424C>T | |
2 | g.72888489C>A | CA426759621 | SPR | c.480C>A (p.Ala160=) n.425C>A | |
2 | g.72888489C= | CA1260703898 | SPR | c.480C= (p.Ala160=) n.425C= | |
2 | g.72888489C>G | CA426759622 | SPR | c.480C>G (p.Ala160=) n.425C>G | |
2 | g.72888489C>T | CA1708964 | SPR | c.480C>T (p.Ala160=) n.425C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888490C>A | CA347231841 | SPR | c.481C>A (p.Leu161Met) n.426C>A | |
2 | g.72888490C= | CA1260703899 | SPR | c.481C= (p.Leu161=) n.426C= | |
2 | g.72888490C>G | CA347231842 | SPR | c.481C>G (p.Leu161Val) n.426C>G | |
2 | g.72888490C>T | CA426759626 | SPR | c.481C>T (p.Leu161=) n.426C>T | dbSNP gnomAD v4 |
2 | g.72888491T>A | CA347231843 | SPR | c.482T>A (p.Leu161Gln) n.427T>A | |
2 | g.72888491T>C | CA347231844 | SPR | c.482T>C (p.Leu161Pro) n.427T>C | |
2 | g.72888491T>G | CA347231845 | SPR | c.482T>G (p.Leu161Arg) n.427T>G | ClinVar dbSNP gnomAD v4 |
2 | g.72888491T= | CA1260703900 | SPR | c.482T= (p.Leu161=) n.427T= | |
2 | g.72888492G>A | CA1708965 | SPR | c.483G>A (p.Leu161=) n.428G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888492G>C | CA426759631 | SPR | c.483G>C (p.Leu161=) n.428G>C | |
2 | g.72888492G= | CA1260703901 | SPR | c.483G= (p.Leu161=) n.428G= | |
2 | g.72888492G>T | CA426759628 | SPR | c.483G>T (p.Leu161=) n.428G>T | |
2 | g.72888493C>A | CA347231849 | SPR | c.484C>A (p.Gln162Lys) n.429C>A | |
2 | g.72888493C>G | CA347231847 | SPR | c.484C>G (p.Gln162Glu) n.429C>G | |
2 | g.72888493C>T | CA347231848 | SPR | c.484C>T (p.Gln162Ter) n.429C>T | |
2 | g.72888494A>C | CA347231850 | SPR | c.485A>C (p.Gln162Pro) n.430A>C | |
2 | g.72888494A>G | CA347231851 | SPR | c.485A>G (p.Gln162Arg) n.430A>G | |
2 | g.72888494A>T | CA347231852 | SPR | c.485A>T (p.Gln162Leu) n.430A>T | |
2 | g.72888495A= | CA1260703902 | SPR | c.486A= (p.Gln162=) n.431A= | |
2 | g.72888495A>C | CA347231853 | SPR | c.486A>C (p.Gln162His) n.431A>C | gnomAD v4 |
2 | g.72888495A>G | CA1708966 | SPR | c.486A>G (p.Gln162=) n.431A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888495A>T | CA347231854 | SPR | c.486A>T (p.Gln162His) n.431A>T | |
2 | g.72888496C>A | CA347231855 | SPR | c.487C>A (p.Pro163Thr) n.432C>A | |
2 | g.72888496C>G | CA347231856 | SPR | c.487C>G (p.Pro163Ala) n.432C>G | |
2 | g.72888496C>T | CA347231857 | SPR | c.487C>T (p.Pro163Ser) n.432C>T | |
2 | g.72888497C>A | CA347231858 | SPR | c.488C>A (p.Pro163His) n.433C>A | |
2 | g.72888497C= | CA1260703903 | SPR | c.488C= (p.Pro163=) n.433C= | |
2 | g.72888497C>G | CA347231859 | SPR | c.488C>G (p.Pro163Arg) n.433C>G | |
2 | g.72888497C>T | CA122794 | SPR | c.488C>T (p.Pro163Leu) n.433C>T | ClinVar dbSNP gnomAD v4 |
2 | g.72888498T>A | CA426759641 | SPR | c.489T>A (p.Pro163=) n.434T>A | |
2 | g.72888498T>C | CA426759642 | SPR | c.489T>C (p.Pro163=) n.434T>C | |
2 | g.72888498T>G | CA426759644 | SPR | c.489T>G (p.Pro163=) n.434T>G | |
2 | g.72888499T>A | CA347231860 | SPR | c.490T>A (p.Phe164Ile) n.435T>A | |
2 | g.72888499T>C | CA347231862 | SPR | c.490T>C (p.Phe164Leu) n.435T>C | |
2 | g.72888499T>G | CA347231861 | SPR | c.490T>G (p.Phe164Val) n.435T>G | |
2 | g.72888499_72888526del | CA2577001984 | SPR | c.490_517del (p.Phe164GlufsTer19) n.435_462del | |
2 | g.72888500T>A | CA347231863 | SPR | c.491T>A (p.Phe164Tyr) n.436T>A | |
2 | g.72888500T>C | CA347231864 | SPR | c.491T>C (p.Phe164Ser) n.436T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72888500T>G | CA347231865 | SPR | c.491T>G (p.Phe164Cys) n.436T>G | |
2 | g.72888500T= | CA1260703905 | SPR | c.491T= (p.Phe164=) n.436T= | |
2 | g.72888500_72888518delinsTCAAAGGCTGGGCGCTGTA | CA1260703904 | SPR | c.491_509delinsTCAAAGGCTGGGCGCTGTA (p.Phe164=) n.436_454delinsTCAAAGGCTGGGCGCTGTA | |
2 | g.72888501C>A | CA347231866 | SPR | c.492C>A (p.Phe164Leu) n.437C>A | |
2 | g.72888501C>G | CA347231867 | SPR | c.492C>G (p.Phe164Leu) n.437C>G | |
2 | g.72888501C>T | CA426759648 | SPR | c.492C>T (p.Phe164=) n.437C>T | |
2 | g.72888502_72888519del | CA1708967 | SPR | c.493_510del (p.Lys165_Tyr170del) n.438_455del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888502A= | CA1260703906 | SPR | c.493A= (p.Lys165=) n.438A= | |
2 | g.72888502A>C | CA1708968 | SPR | c.493A>C (p.Lys165Gln) n.438A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888502A>G | CA347231868 | SPR | c.493A>G (p.Lys165Glu) n.438A>G | |
2 | g.72888502A>T | CA347231869 | SPR | c.493A>T (p.Lys165Ter) n.438A>T | |
2 | g.72888510_72888535del | CA2522485668 | SPR | c.501_526del (p.Trp167CysfsTer3) n.446_471del | gnomAD v4 |
2 | g.72888503A>C | CA347231870 | SPR | c.494A>C (p.Lys165Thr) n.439A>C | |
2 | g.72888503A>G | CA347231871 | SPR | c.494A>G (p.Lys165Arg) n.439A>G | |
2 | g.72888503A>T | CA347231872 | SPR | c.494A>T (p.Lys165Ile) n.439A>T | |
2 | g.72888504A>C | CA347231874 | SPR | c.495A>C (p.Lys165Asn) n.440A>C | |
2 | g.72888504A>G | CA426759656 | SPR | c.495A>G (p.Lys165=) n.440A>G | |
2 | g.72888504A>T | CA347231873 | SPR | c.495A>T (p.Lys165Asn) n.440A>T | |
2 | g.72888505G>A | CA347231875 | SPR | c.496G>A (p.Gly166Ser) n.441G>A | |
2 | g.72888505G>C | CA347231876 | SPR | c.496G>C (p.Gly166Arg) n.441G>C | |
2 | g.72888505G= | CA1260703907 | SPR | c.496G= (p.Gly166=) n.441G= | |
2 | g.72888505G>T | CA1708969 | SPR | c.496G>T (p.Gly166Cys) n.441G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72888506G>A | CA347231877 | SPR | c.497G>A (p.Gly166Asp) n.442G>A | ClinVar dbSNP gnomAD v4 |
2 | g.72888506G>C | CA347231878 | SPR | c.497G>C (p.Gly166Ala) n.442G>C | |
2 | g.72888506G= | CA1260703908 | SPR | c.497G= (p.Gly166=) n.442G= | |
2 | g.72888506G>T | CA347231879 | SPR | c.497G>T (p.Gly166Val) n.442G>T | |
2 | g.72888507C>A | CA426759660 | SPR | c.498C>A (p.Gly166=) n.443C>A | |
2 | g.72888507C= | CA1260703909 | SPR | c.498C= (p.Gly166=) n.443C= | |
2 | g.72888507C>G | CA1708970 | SPR | c.498C>G (p.Gly166=) n.443C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72888507C>T | CA426759661 | SPR | c.498C>T (p.Gly166=) n.443C>T | dbSNP |