Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.72891434A>C | CA347232615 | SPR | c.683A>C (p.Lys228Thr) n.628A>C | |
2 | g.72891434A>G | CA347232617 | SPR | c.683A>G (p.Lys228Arg) n.628A>G | |
2 | g.72891434A>T | CA347232619 | SPR | c.683A>T (p.Lys228Met) n.628A>T | |
2 | g.72891435G>A | CA426703555 | SPR | c.684G>A (p.Lys228=) n.629G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72891435G>C | CA347232624 | SPR | c.684G>C (p.Lys228Asn) n.629G>C | |
2 | g.72891435G>T | CA347232621 | SPR | c.684G>T (p.Lys228Asn) n.629G>T | |
2 | g.72891436G>A | CA347232626 | SPR | c.685G>A (p.Gly229Arg) n.630G>A | |
2 | g.72891436G>C | CA347232630 | SPR | c.685G>C (p.Gly229Arg) n.630G>C | |
2 | g.72891436G>T | CA347232628 | SPR | c.685G>T (p.Gly229Trp) n.630G>T | |
2 | g.72891437G>A | CA347232632 | SPR | c.686G>A (p.Gly229Glu) n.631G>A | gnomAD v4 |
2 | g.72891437G>C | CA347232636 | SPR | c.686G>C (p.Gly229Ala) n.631G>C | |
2 | g.72891437G>T | CA347232634 | SPR | c.686G>T (p.Gly229Val) n.631G>T | |
2 | g.72891438G>A | CA426703563 | SPR | c.687G>A (p.Gly229=) n.632G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891438G>C | CA426703564 | SPR | c.687G>C (p.Gly229=) n.632G>C | |
2 | g.72891438G= | CA1260705216 | SPR | c.687G= (p.Gly229=) n.632G= | |
2 | g.72891438G>T | CA426703565 | SPR | c.687G>T (p.Gly229=) n.632G>T | |
2 | g.72891439A= | CA1260705217 | SPR | c.688A= (p.Lys230=) n.633A= | |
2 | g.72891439A>C | CA347232638 | SPR | c.688A>C (p.Lys230Gln) n.633A>C | |
2 | g.72891439A>G | CA347232640 | SPR | c.688A>G (p.Lys230Glu) n.633A>G | |
2 | g.72891439A>T | CA1709020 | SPR | c.688A>T (p.Lys230Ter) n.633A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72891440A>C | CA347232642 | SPR | c.689A>C (p.Lys230Thr) n.634A>C | |
2 | g.72891440A>G | CA347232644 | SPR | c.689A>G (p.Lys230Arg) n.634A>G | |
2 | g.72891440A>T | CA347232646 | SPR | c.689A>T (p.Lys230Met) n.634A>T | |
2 | g.72891441G>A | CA426703568 | SPR | c.690G>A (p.Lys230=) n.635G>A | |
2 | g.72891441G>C | CA347232648 | SPR | c.690G>C (p.Lys230Asn) n.635G>C | dbSNP |
2 | g.72891441G= | CA1260705218 | SPR | c.690G= (p.Lys230=) n.635G= | |
2 | g.72891441G>T | CA347232649 | SPR | c.690G>T (p.Lys230Asn) n.635G>T | |
2 | g.72891442C>A | CA347232651 | SPR | c.691C>A (p.Leu231Met) n.636C>A | |
2 | g.72891442C>G | CA347232653 | SPR | c.691C>G (p.Leu231Val) n.636C>G | |
2 | g.72891442C>T | CA426703573 | SPR | c.691C>T (p.Leu231=) n.636C>T | |
2 | g.72891443T>A | CA347232655 | SPR | c.692T>A (p.Leu231Gln) n.637T>A | |
2 | g.72891443T>C | CA347232659 | SPR | c.692T>C (p.Leu231Pro) n.637T>C | |
2 | g.72891443T>G | CA347232657 | SPR | c.692T>G (p.Leu231Arg) n.637T>G | |
2 | g.72891444G>A | CA49798599 | SPR | c.693G>A (p.Leu231=) n.638G>A | dbSNP gnomAD v4 |
2 | g.72891444G>C | CA426703576 | SPR | c.693G>C (p.Leu231=) n.638G>C | |
2 | g.72891444G= | CA1260705219 | SPR | c.693G= (p.Leu231=) n.638G= | |
2 | g.72891444G>T | CA426703577 | SPR | c.693G>T (p.Leu231=) n.638G>T | gnomAD v4 |
2 | g.72891445G>A | CA347232663 | SPR | c.694G>A (p.Val232Met) n.639G>A | |
2 | g.72891445G>C | CA347232664 | SPR | c.694G>C (p.Val232Leu) n.639G>C | |
2 | g.72891445G>T | CA347232665 | SPR | c.694G>T (p.Val232Leu) n.639G>T | |
2 | g.72891446T>A | CA347232668 | SPR | c.695T>A (p.Val232Glu) n.640T>A | |
2 | g.72891446T>C | CA347232672 | SPR | c.695T>C (p.Val232Ala) n.640T>C | COSMIC |
2 | g.72891446T>G | CA347232670 | SPR | c.695T>G (p.Val232Gly) n.640T>G | |
2 | g.72891447G>A | CA426703581 | SPR | c.696G>A (p.Val232=) n.641G>A | gnomAD v4 |
2 | g.72891447G>C | CA426703583 | SPR | c.696G>C (p.Val232=) n.641G>C | |
2 | g.72891447G>T | CA426703584 | SPR | c.696G>T (p.Val232=) n.641G>T | |
2 | g.72891448G>A | CA347232674 | SPR | c.697G>A (p.Asp233Asn) n.642G>A | |
2 | g.72891448G>C | CA347232676 | SPR | c.697G>C (p.Asp233His) n.642G>C | |
2 | g.72891448G>T | CA347232678 | SPR | c.697G>T (p.Asp233Tyr) n.642G>T | |
2 | g.72891449A>C | CA347232680 | SPR | c.698A>C (p.Asp233Ala) n.643A>C | |
2 | g.72891449A>G | CA347232682 | SPR | c.698A>G (p.Asp233Gly) n.643A>G | |
2 | g.72891449A>T | CA347232684 | SPR | c.698A>T (p.Asp233Val) n.643A>T | |
2 | g.72891450T>A | CA347232686 | SPR | c.699T>A (p.Asp233Glu) n.644T>A | |
2 | g.72891450T>C | CA426703588 | SPR | c.699T>C (p.Asp233=) n.644T>C | ClinVar |
2 | g.72891450T>G | CA347232687 | SPR | c.699T>G (p.Asp233Glu) n.644T>G | |
2 | g.72891451T>A | CA347232690 | SPR | c.700T>A (p.Cys234Ser) n.645T>A | |
2 | g.72891451T>C | CA347232692 | SPR | c.700T>C (p.Cys234Arg) n.645T>C | |
2 | g.72891451T>G | CA347232694 | SPR | c.700T>G (p.Cys234Gly) n.645T>G | |
2 | g.72891452G>A | CA1709022 | SPR | c.701G>A (p.Cys234Tyr) n.646G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891452G>C | CA1709021 | SPR | c.701G>C (p.Cys234Ser) n.646G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72891452G= | CA1260705220 | SPR | c.701G= (p.Cys234=) n.646G= | |
2 | g.72891452G>T | CA347232697 | SPR | c.701G>T (p.Cys234Phe) n.646G>T | COSMIC |
2 | g.72891453C>A | CA347232700 | SPR | c.702C>A (p.Cys234Ter) n.647C>A | |
2 | g.72891453C>G | CA347232702 | SPR | c.702C>G (p.Cys234Trp) n.647C>G | |
2 | g.72891453C>T | CA426703597 | SPR | c.702C>T (p.Cys234=) n.647C>T | |
2 | g.72891454A>C | CA347232704 | SPR | c.703A>C (p.Lys235Gln) n.648A>C | |
2 | g.72891454A>G | CA347232705 | SPR | c.703A>G (p.Lys235Glu) n.648A>G | |
2 | g.72891454A>T | CA347232707 | SPR | c.703A>T (p.Lys235Ter) n.648A>T | |
2 | g.72891455A>C | CA347232709 | SPR | c.704A>C (p.Lys235Thr) n.649A>C | |
2 | g.72891455A>G | CA347232711 | SPR | c.704A>G (p.Lys235Arg) n.649A>G | |
2 | g.72891455A>T | CA347232713 | SPR | c.704A>T (p.Lys235Met) n.649A>T | |
2 | g.72891456G>A | CA426703602 | SPR | c.705G>A (p.Lys235=) n.650G>A | |
2 | g.72891456G>C | CA347232715 | SPR | c.705G>C (p.Lys235Asn) n.650G>C | dbSNP gnomAD v4 |
2 | g.72891456G= | CA1260705221 | SPR | c.705G= (p.Lys235=) n.650G= | |
2 | g.72891456G>T | CA347232717 | SPR | c.705G>T (p.Lys235Asn) n.650G>T | |
2 | g.72891457G>A | CA1709023 | SPR | c.706G>A (p.Val236Met) n.651G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891457G>C | CA347232721 | SPR | c.706G>C (p.Val236Leu) n.651G>C | |
2 | g.72891457G= | CA1260705222 | SPR | c.706G= (p.Val236=) n.651G= | |
2 | g.72891457G>T | CA1709024 | SPR | c.706G>T (p.Val236Leu) n.651G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72891458T>A | CA347232724 | SPR | c.707T>A (p.Val236Glu) n.652T>A | |
2 | g.72891458T>C | CA347232726 | SPR | c.707T>C (p.Val236Ala) n.652T>C | COSMIC |
2 | g.72891458T>G | CA347232728 | SPR | c.707T>G (p.Val236Gly) n.652T>G | |
2 | g.72891459G>A | CA426703609 | SPR | c.708G>A (p.Val236=) n.653G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72891459G>C | CA426703611 | SPR | c.708G>C (p.Val236=) n.653G>C | |
2 | g.72891459G= | CA1260705223 | SPR | c.708G= (p.Val236=) n.653G= | |
2 | g.72891459G>T | CA426703612 | SPR | c.708G>T (p.Val236=) n.653G>T | COSMIC |
2 | g.72891460T>A | CA347232730 | SPR | c.709T>A (p.Ser237Thr) n.654T>A | |
2 | g.72891460T>C | CA347232732 | SPR | c.709T>C (p.Ser237Pro) n.654T>C | |
2 | g.72891460T>G | CA347232733 | SPR | c.709T>G (p.Ser237Ala) n.654T>G | |
2 | g.72891461C>A | CA347232736 | SPR | c.710C>A (p.Ser237Ter) n.655C>A | gnomAD v4 |
2 | g.72891461C>G | CA347232738 | SPR | c.710C>G (p.Ser237Ter) n.655C>G | |
2 | g.72891461C>T | CA347232739 | SPR | c.710C>T (p.Ser237Leu) n.655C>T | gnomAD v4 |
2 | g.72891462A>C | CA426703617 | SPR | c.711A>C (p.Ser237=) n.656A>C | |
2 | g.72891462A>G | CA426703619 | SPR | c.711A>G (p.Ser237=) n.656A>G | |
2 | g.72891462A>T | CA426703620 | SPR | c.711A>T (p.Ser237=) n.656A>T | |
2 | g.72891463G>A | CA347232742 | SPR | c.712G>A (p.Ala238Thr) n.657G>A | |
2 | g.72891463G>C | CA347232744 | SPR | c.712G>C (p.Ala238Pro) n.657G>C | |
2 | g.72891463G>T | CA347232746 | SPR | c.712G>T (p.Ala238Ser) n.657G>T | |
2 | g.72891464C>A | CA347232750 | SPR | c.713C>A (p.Ala238Asp) n.658C>A | |
2 | g.72891464C>G | CA347232752 | SPR | c.713C>G (p.Ala238Gly) n.658C>G | |
2 | g.72891464C>T | CA347232748 | SPR | c.713C>T (p.Ala238Val) n.658C>T | |
2 | g.72891465C>A | CA426703630 | SPR | c.714C>A (p.Ala238=) n.659C>A | |
2 | g.72891465C>G | CA426703629 | SPR | c.714C>G (p.Ala238=) n.659C>G | |
2 | g.72891465C>T | CA426703627 | SPR | c.714C>T (p.Ala238=) n.659C>T | |
2 | g.72891466C>A | CA347232757 | SPR | c.715C>A (p.Gln239Lys) n.660C>A | |
2 | g.72891466C= | CA1260705224 | SPR | c.715C= (p.Gln239=) n.660C= | |
2 | g.72891466C>G | CA347232754 | SPR | c.715C>G (p.Gln239Glu) n.660C>G | |
2 | g.72891466C>T | CA1709025 | SPR | c.715C>T (p.Gln239Ter) n.660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72891467A>C | CA347232759 | SPR | c.716A>C (p.Gln239Pro) n.661A>C | |
2 | g.72891467A>G | CA347232761 | SPR | c.716A>G (p.Gln239Arg) n.661A>G | |
2 | g.72891467A>T | CA347232763 | SPR | c.716A>T (p.Gln239Leu) n.661A>T | |
2 | g.72891468G>A | CA426703634 | SPR | c.717G>A (p.Gln239=) n.662G>A | |
2 | g.72891468G>C | CA347232765 | SPR | c.717G>C (p.Gln239His) n.662G>C | |
2 | g.72891468G>T | CA347232767 | SPR | c.717G>T (p.Gln239His) n.662G>T | |
2 | g.72891469A>C | CA347232769 | SPR | c.718A>C (p.Lys240Gln) n.663A>C | |
2 | g.72891469A>G | CA347232771 | SPR | c.718A>G (p.Lys240Glu) n.663A>G | gnomAD v4 |
2 | g.72891469A>T | CA347232773 | SPR | c.718A>T (p.Lys240Ter) n.663A>T | |
2 | g.72891470A>C | CA347232774 | SPR | c.719A>C (p.Lys240Thr) n.664A>C | |
2 | g.72891470A>G | CA347232776 | SPR | c.719A>G (p.Lys240Arg) n.664A>G | |
2 | g.72891470A>T | CA347232778 | SPR | c.719A>T (p.Lys240Ile) n.664A>T | |
2 | g.72891471A>C | CA347232780 | SPR | c.720A>C (p.Lys240Asn) n.665A>C | |
2 | g.72891471A>G | CA426703642 | SPR | c.720A>G (p.Lys240=) n.665A>G | gnomAD v4 |
2 | g.72891471A>T | CA347232782 | SPR | c.720A>T (p.Lys240Asn) n.665A>T | |
2 | g.72891472C>A | CA347232785 | SPR | c.721C>A (p.Leu241Met) n.666C>A | |
2 | g.72891472C= | CA1260705225 | SPR | c.721C= (p.Leu241=) n.666C= | |
2 | g.72891472C>G | CA347232786 | SPR | c.721C>G (p.Leu241Val) n.666C>G | |
2 | g.72891472C>T | CA1709026 | SPR | c.721C>T (p.Leu241=) n.666C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891473T>A | CA347232788 | SPR | c.722T>A (p.Leu241Gln) n.667T>A | |
2 | g.72891473T>C | CA347232790 | SPR | c.722T>C (p.Leu241Pro) n.667T>C | |
2 | g.72891473T>G | CA347232792 | SPR | c.722T>G (p.Leu241Arg) n.667T>G | |
2 | g.72891474G>A | CA426703652 | SPR | c.723G>A (p.Leu241=) n.668G>A | |
2 | g.72891474G>C | CA426703651 | SPR | c.723G>C (p.Leu241=) n.668G>C | |
2 | g.72891474G>T | CA426703650 | SPR | c.723G>T (p.Leu241=) n.668G>T | |
2 | g.72891477_72891481del | CA2577002020 | SPR | c.726_730del (p.Ser243ThrfsTer16) n.671_675del | |
2 | g.72891475C>A | CA347232794 | SPR | c.724C>A (p.Leu242Met) n.669C>A | |
2 | g.72891475C>G | CA347232795 | SPR | c.724C>G (p.Leu242Val) n.669C>G | |
2 | g.72891475C>T | CA426703654 | SPR | c.724C>T (p.Leu242=) n.669C>T | |
2 | g.72891476T>A | CA347232796 | SPR | c.725T>A (p.Leu242Gln) n.670T>A | |
2 | g.72891476T>C | CA347232797 | SPR | c.725T>C (p.Leu242Pro) n.670T>C | |
2 | g.72891476T>G | CA49798643 | SPR | c.725T>G (p.Leu242Arg) n.670T>G | dbSNP gnomAD v4 |
2 | g.72891476T= | CA1260705226 | SPR | c.725T= (p.Leu242=) n.670T= | |
2 | g.72891477G>A | CA426703657 | SPR | c.726G>A (p.Leu242=) n.671G>A | gnomAD v4 |
2 | g.72891477G>C | CA426703661 | SPR | c.726G>C (p.Leu242=) n.671G>C | |
2 | g.72891477G>T | CA426703659 | SPR | c.726G>T (p.Leu242=) n.671G>T | |
2 | g.72891478A= | CA1260705227 | SPR | c.727A= (p.Ser243=) n.672A= | |
2 | g.72891478A>C | CA347232802 | SPR | c.727A>C (p.Ser243Arg) n.672A>C | |
2 | g.72891478A>G | CA347232804 | SPR | c.727A>G (p.Ser243Gly) n.672A>G | dbSNP |
2 | g.72891478A>T | CA347232800 | SPR | c.727A>T (p.Ser243Cys) n.672A>T | |
2 | g.72891479G>A | CA49798651 | SPR | c.728G>A (p.Ser243Asn) n.673G>A | dbSNP |
2 | g.72891479G>C | CA347232807 | SPR | c.728G>C (p.Ser243Thr) n.673G>C | |
2 | g.72891479G= | CA1260705228 | SPR | c.728G= (p.Ser243=) n.673G= | |
2 | g.72891479G>T | CA347232809 | SPR | c.728G>T (p.Ser243Ile) n.673G>T | |
2 | g.72891480C>A | CA347232811 | SPR | c.729C>A (p.Ser243Arg) n.674C>A | |
2 | g.72891480C= | CA1260705229 | SPR | c.729C= (p.Ser243=) n.674C= | |
2 | g.72891480C>G | CA347232812 | SPR | c.729C>G (p.Ser243Arg) n.674C>G | |
2 | g.72891480C>T | CA1709027 | SPR | c.729C>T (p.Ser243=) n.674C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72891481T>A | CA347232813 | SPR | c.730T>A (p.Leu244Ile) n.675T>A | |
2 | g.72891481T>C | CA426703667 | SPR | c.730T>C (p.Leu244=) n.675T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72891481T>G | CA347232814 | SPR | c.730T>G (p.Leu244Val) n.675T>G | |
2 | g.72891481T= | CA1260705230 | SPR | c.730T= (p.Leu244=) n.675T= | |
2 | g.72891482T>A | CA347232815 | SPR | c.731T>A (p.Leu244Ter) n.676T>A | |
2 | g.72891482T>C | CA347232816 | SPR | c.731T>C (p.Leu244Ser) n.676T>C | |
2 | g.72891482T>G | CA347232817 | SPR | c.731T>G (p.Leu244Ter) n.676T>G | |
2 | g.72891483A>C | CA347232818 | SPR | c.732A>C (p.Leu244Phe) n.677A>C | |
2 | g.72891483A>G | CA426703671 | SPR | c.732A>G (p.Leu244=) n.677A>G | gnomAD v4 |
2 | g.72891483A>T | CA347232819 | SPR | c.732A>T (p.Leu244Phe) n.677A>T | |
2 | g.72891484C>A | CA347232821 | SPR | c.733C>A (p.Leu245Met) n.678C>A | |
2 | g.72891484C= | CA1260705231 | SPR | c.733C= (p.Leu245=) n.678C= | |
2 | g.72891484C>G | CA347232820 | SPR | c.733C>G (p.Leu245Val) n.678C>G | |
2 | g.72891484C>T | CA426703675 | SPR | c.733C>T (p.Leu245=) n.678C>T | dbSNP |
2 | g.72891485T>A | CA347232822 | SPR | c.734T>A (p.Leu245Gln) n.679T>A | |
2 | g.72891485T>C | CA347232823 | SPR | c.734T>C (p.Leu245Pro) n.679T>C | |
2 | g.72891485T>G | CA347232824 | SPR | c.734T>G (p.Leu245Arg) n.679T>G | |
2 | g.72891486G>A | CA426703678 | SPR | c.735G>A (p.Leu245=) n.680G>A | |
2 | g.72891486G>C | CA426703679 | SPR | c.735G>C (p.Leu245=) n.680G>C | |
2 | g.72891486G>T | CA426703680 | SPR | c.735G>T (p.Leu245=) n.680G>T | |
2 | g.72891487G>A | CA347232825 | SPR | c.736G>A (p.Glu246Lys) n.681G>A | |
2 | g.72891487G>C | CA347232826 | SPR | c.736G>C (p.Glu246Gln) n.681G>C | dbSNP |
2 | g.72891487G>T | CA347232827 | SPR | c.736G>T (p.Glu246Ter) n.681G>T | |
2 | g.72891488A>C | CA347232830 | SPR | c.737A>C (p.Glu246Ala) n.682A>C | |
2 | g.72891488A>G | CA347232828 | SPR | c.737A>G (p.Glu246Gly) n.682A>G | |
2 | g.72891488A>T | CA347232829 | SPR | c.737A>T (p.Glu246Val) n.682A>T | |
2 | g.72891489A>C | CA347232831 | SPR | c.738A>C (p.Glu246Asp) n.683A>C | |
2 | g.72891489A>G | CA426703688 | SPR | c.738A>G (p.Glu246=) n.683A>G | |
2 | g.72891489A>T | CA347232832 | SPR | c.738A>T (p.Glu246Asp) n.683A>T | |
2 | g.72891490A= | CA1260705232 | SPR | c.739A= (p.Lys247=) n.684A= | |
2 | g.72891490A>C | CA347232833 | SPR | c.739A>C (p.Lys247Gln) n.684A>C | |
2 | g.72891490A>G | CA347232834 | SPR | c.739A>G (p.Lys247Glu) n.684A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891490A>T | CA347232835 | SPR | c.739A>T (p.Lys247Ter) n.684A>T | |
2 | g.72891491A>C | CA347232838 | SPR | c.740A>C (p.Lys247Thr) n.685A>C | |
2 | g.72891491A>G | CA347232837 | SPR | c.740A>G (p.Lys247Arg) n.685A>G | COSMIC |
2 | g.72891491A>T | CA347232836 | SPR | c.740A>T (p.Lys247Met) n.685A>T | |
2 | g.72891492G>A | CA426703690 | SPR | c.741G>A (p.Lys247=) n.686G>A | dbSNP gnomAD v4 |
2 | g.72891492G>C | CA347232839 | SPR | c.741G>C (p.Lys247Asn) n.686G>C | |
2 | g.72891492G= | CA1260705233 | SPR | c.741G= (p.Lys247=) n.686G= | |
2 | g.72891492G>T | CA347232840 | SPR | c.741G>T (p.Lys247Asn) n.686G>T | |
2 | g.72891493G>A | CA347232841 | SPR | c.742G>A (p.Asp248Asn) n.687G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72891493G>C | CA347232842 | SPR | c.742G>C (p.Asp248His) n.687G>C | |
2 | g.72891493G= | CA1260705235 | SPR | c.742G= (p.Asp248=) n.687G= | |
2 | g.72891493G>T | CA347232843 | SPR | c.742G>T (p.Asp248Tyr) n.687G>T | |
2 | g.72891493_72891494dup | CA1260705234 | SPR | c.742_743dup (p.Asp248GlufsTer23) n.687_688dup | dbSNP |
2 | g.72891494A>C | CA347232846 | SPR | c.743A>C (p.Asp248Ala) n.688A>C | |
2 | g.72891494A>G | CA347232845 | SPR | c.743A>G (p.Asp248Gly) n.688A>G | |
2 | g.72891494A>T | CA347232844 | SPR | c.743A>T (p.Asp248Val) n.688A>T | |
2 | g.72891495C>A | CA347232847 | SPR | c.744C>A (p.Asp248Glu) n.689C>A | gnomAD v4 |
2 | g.72891495C= | CA1260705236 | SPR | c.744C= (p.Asp248=) n.689C= | |
2 | g.72891495C>G | CA347232848 | SPR | c.744C>G (p.Asp248Glu) n.689C>G | |
2 | g.72891495C>T | CA1709028 | SPR | c.744C>T (p.Asp248=) n.689C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891496G>A | CA1709029 | SPR | c.745G>A (p.Glu249Lys) n.690G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.72891496G>C | CA347232849 | SPR | c.745G>C (p.Glu249Gln) n.690G>C | dbSNP gnomAD v4 |
2 | g.72891496G= | CA1260705238 | SPR | c.745G= (p.Glu249=) n.690G= | |
2 | g.72891496G>T | CA347232850 | SPR | c.745G>T (p.Glu249Ter) n.690G>T | COSMIC |
2 | g.72891497_72891498insTGA | CA1260705237 | SPR | c.746_747insTGA (p.Asp248_Glu249insAsp) n.691_692insTGA | dbSNP |
2 | g.72891497A>C | CA347232853 | SPR | c.746A>C (p.Glu249Ala) n.691A>C | |
2 | g.72891497A>G | CA347232851 | SPR | c.746A>G (p.Glu249Gly) n.691A>G | |
2 | g.72891497A>T | CA347232852 | SPR | c.746A>T (p.Glu249Val) n.691A>T | |
2 | g.72891497_72891507delinsAGTTCAAGTCT | CA1260705239 | SPR | c.746_756delinsAGTTCAAGTCT (p.Glu249=) n.691_701delinsAGTTCAAGTCT | |
2 | g.72891498G>A | CA426703697 | SPR | c.747G>A (p.Glu249=) n.692G>A | gnomAD v4 |
2 | g.72891498G>C | CA347232854 | SPR | c.747G>C (p.Glu249Asp) n.692G>C | |
2 | g.72891498G>T | CA347232855 | SPR | c.747G>T (p.Glu249Asp) n.692G>T | |
2 | g.72891499_72891508del | CA1032173982 | SPR | c.748_757del (p.Phe250GlufsTer17) n.693_702del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72891499T>A | CA347232856 | SPR | c.748T>A (p.Phe250Ile) n.693T>A | gnomAD v4 |
2 | g.72891499T>C | CA347232857 | SPR | c.748T>C (p.Phe250Leu) n.693T>C | COSMIC |
2 | g.72891499T>G | CA347232858 | SPR | c.748T>G (p.Phe250Val) n.693T>G | |
2 | g.72891500T>A | CA347232859 | SPR | c.749T>A (p.Phe250Tyr) n.694T>A | gnomAD v4 |
2 | g.72891500T>C | CA347232860 | SPR | c.749T>C (p.Phe250Ser) n.694T>C | |
2 | g.72891500T>G | CA347232861 | SPR | c.749T>G (p.Phe250Cys) n.694T>G | |
2 | g.72891501C>A | CA347232862 | SPR | c.750C>A (p.Phe250Leu) n.695C>A | |
2 | g.72891501C>G | CA347232863 | SPR | c.750C>G (p.Phe250Leu) n.695C>G | |
2 | g.72891501C>T | CA426703702 | SPR | c.750C>T (p.Phe250=) n.695C>T | |
2 | g.72891502A= | CA1260705240 | SPR | c.751A= (p.Lys251=) n.696A= | |
2 | g.72891502A>C | CA347232864 | SPR | c.751A>C (p.Lys251Gln) n.696A>C | |
2 | g.72891502A>G | CA347232865 | SPR | c.751A>G (p.Lys251Glu) n.696A>G | gnomAD v4 |
2 | g.72891502A>T | CA122795 | SPR | c.751A>T (p.Lys251Ter) n.696A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891503A>C | CA347232868 | SPR | c.752A>C (p.Lys251Thr) n.697A>C | COSMIC |
2 | g.72891503A>G | CA347232866 | SPR | c.752A>G (p.Lys251Arg) n.697A>G | |
2 | g.72891503A>T | CA347232867 | SPR | c.752A>T (p.Lys251Met) n.697A>T | |
2 | g.72891504G>A | CA426703703 | SPR | c.753G>A (p.Lys251=) n.698G>A | |
2 | g.72891504G>C | CA347232869 | SPR | c.753G>C (p.Lys251Asn) n.698G>C | |
2 | g.72891504G>T | CA347232870 | SPR | c.753G>T (p.Lys251Asn) n.698G>T | COSMIC |
2 | g.72891505T>A | CA347232871 | SPR | c.754T>A (p.Ser252Thr) n.699T>A | |
2 | g.72891505T>C | CA347232872 | SPR | c.754T>C (p.Ser252Pro) n.699T>C | |
2 | g.72891505T>G | CA347232873 | SPR | c.754T>G (p.Ser252Ala) n.699T>G | dbSNP |
2 | g.72891505T= | CA1260705241 | SPR | c.754T= (p.Ser252=) n.699T= | |
2 | g.72891506C>A | CA347232876 | SPR | c.755C>A (p.Ser252Tyr) n.700C>A | |
2 | g.72891506C>G | CA347232875 | SPR | c.755C>G (p.Ser252Cys) n.700C>G | COSMIC |
2 | g.72891506C>T | CA347232874 | SPR | c.755C>T (p.Ser252Phe) n.700C>T | |
2 | g.72891506_72891508delinsCTG | CA1260705242 | SPR | c.755_757delinsCTG (p.Ser252=) n.700_702delinsCTG | |
2 | g.72891507T>A | CA426703709 | SPR | c.756T>A (p.Ser252=) n.701T>A | |
2 | g.72891507T>C | CA426703706 | SPR | c.756T>C (p.Ser252=) n.701T>C | |
2 | g.72891507T>G | CA426703708 | SPR | c.756T>G (p.Ser252=) n.701T>G | |
2 | g.72891507_72891508del | CA49798701 | SPR | c.756_757del (p.Gly253SerfsTer7) n.701_702del | dbSNP |
2 | g.72891508G>A | CA347232877 | SPR | c.757G>A (p.Gly253Arg) n.702G>A | ClinVar dbSNP |
2 | g.72891508G>C | CA347232878 | SPR | c.757G>C (p.Gly253Arg) n.702G>C | |
2 | g.72891508G= | CA1260705243 | SPR | c.757G= (p.Gly253=) n.702G= | |
2 | g.72891508G>T | CA347232879 | SPR | c.757G>T (p.Gly253Ter) n.702G>T | |
2 | g.72891509G>A | CA347232880 | SPR | c.758G>A (p.Gly253Glu) n.703G>A | |
2 | g.72891509G>C | CA347232881 | SPR | c.758G>C (p.Gly253Ala) n.703G>C | |
2 | g.72891509G>T | CA347232882 | SPR | c.758G>T (p.Gly253Val) n.703G>T | |
2 | g.72891510A>C | CA426703711 | SPR | c.759A>C (p.Gly253=) n.704A>C | |
2 | g.72891510A>G | CA426703712 | SPR | c.759A>G (p.Gly253=) n.704A>G | |
2 | g.72891510A>T | CA426703713 | SPR | c.759A>T (p.Gly253=) n.704A>T | |
2 | g.72891511G>A | CA347232885 | SPR | c.760G>A (p.Ala254Thr) n.705G>A | |
2 | g.72891511G>C | CA347232883 | SPR | c.760G>C (p.Ala254Pro) n.705G>C | gnomAD v4 |
2 | g.72891511G>T | CA347232884 | SPR | c.760G>T (p.Ala254Ser) n.705G>T | |
2 | g.72891512C>A | CA347232886 | SPR | c.761C>A (p.Ala254Asp) n.706C>A | |
2 | g.72891512C>G | CA347232887 | SPR | c.761C>G (p.Ala254Gly) n.706C>G | |
2 | g.72891512C>T | CA347232888 | SPR | c.761C>T (p.Ala254Val) n.706C>T | |
2 | g.72891514del | CA2577002021 | SPR | c.763del (p.His255ThrfsTer15) n.708del | |
2 | g.72891513C>A | CA426703719 | SPR | c.762C>A (p.Ala254=) n.707C>A | gnomAD v4 |
2 | g.72891513C>G | CA426703717 | SPR | c.762C>G (p.Ala254=) n.707C>G | |
2 | g.72891513C>T | CA426703718 | SPR | c.762C>T (p.Ala254=) n.707C>T | ClinVar |
2 | g.72891514C>A | CA347232889 | SPR | c.763C>A (p.His255Asn) n.708C>A | |
2 | g.72891514C>G | CA347232890 | SPR | c.763C>G (p.His255Asp) n.708C>G | |
2 | g.72891514C>T | CA347232891 | SPR | c.763C>T (p.His255Tyr) n.708C>T | |
2 | g.72891515A>C | CA347232892 | SPR | c.764A>C (p.His255Pro) n.709A>C | |
2 | g.72891515A>G | CA347232893 | SPR | c.764A>G (p.His255Arg) n.709A>G | |
2 | g.72891515A>T | CA347232894 | SPR | c.764A>T (p.His255Leu) n.709A>T | |
2 | g.72891516C>A | CA347232895 | SPR | c.765C>A (p.His255Gln) n.710C>A | |
2 | g.72891516C= | CA1260705244 | SPR | c.765C= (p.His255=) n.710C= | |
2 | g.72891516C>G | CA347232896 | SPR | c.765C>G (p.His255Gln) n.710C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891516C>T | CA1709030 | SPR | c.765C>T (p.His255=) n.710C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.72891517G>A | CA1709031 | SPR | c.766G>A (p.Val256Met) n.711G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891517G>C | CA347232898 | SPR | c.766G>C (p.Val256Leu) n.711G>C | |
2 | g.72891517G= | CA1260705245 | SPR | c.766G= (p.Val256=) n.711G= | |
2 | g.72891517G>T | CA347232897 | SPR | c.766G>T (p.Val256Leu) n.711G>T | |
2 | g.72891518T>A | CA347232899 | SPR | c.767T>A (p.Val256Glu) n.712T>A | |
2 | g.72891518T>C | CA347232901 | SPR | c.767T>C (p.Val256Ala) n.712T>C | |
2 | g.72891518T>G | CA347232900 | SPR | c.767T>G (p.Val256Gly) n.712T>G | |
2 | g.72891519G>A | CA426703724 | SPR | c.768G>A (p.Val256=) n.713G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891519G>C | CA426703725 | SPR | c.768G>C (p.Val256=) n.713G>C | |
2 | g.72891519G= | CA1260705246 | SPR | c.768G= (p.Val256=) n.713G= | |
2 | g.72891519G>T | CA426703726 | SPR | c.768G>T (p.Val256=) n.713G>T | |
2 | g.72891520G>A | CA347232902 | SPR | c.769G>A (p.Asp257Asn) n.714G>A | |
2 | g.72891520G>C | CA49798719 | SPR | c.769G>C (p.Asp257His) n.714G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891520G= | CA1260705247 | SPR | c.769G= (p.Asp257=) n.714G= | |
2 | g.72891520G>T | CA347232903 | SPR | c.769G>T (p.Asp257Tyr) n.714G>T | |
2 | g.72891521A>C | CA347232904 | SPR | c.770A>C (p.Asp257Ala) n.715A>C | |
2 | g.72891521A>G | CA347232905 | SPR | c.770A>G (p.Asp257Gly) n.715A>G | |
2 | g.72891521A>T | CA347232906 | SPR | c.770A>T (p.Asp257Val) n.715A>T | |
2 | g.72891522C>A | CA347232907 | SPR | c.771C>A (p.Asp257Glu) n.716C>A | |
2 | g.72891522C>G | CA347232908 | SPR | c.771C>G (p.Asp257Glu) n.716C>G | |
2 | g.72891522C>T | CA426703729 | SPR | c.771C>T (p.Asp257=) n.716C>T | gnomAD v4 |
2 | g.72891523T>A | CA347232909 | SPR | c.772T>A (p.Phe258Ile) n.717T>A | |
2 | g.72891523T>C | CA347232910 | SPR | c.772T>C (p.Phe258Leu) n.717T>C | |
2 | g.72891523T>G | CA347232911 | SPR | c.772T>G (p.Phe258Val) n.717T>G | |
2 | g.72891524T>A | CA347232914 | SPR | c.773T>A (p.Phe258Tyr) n.718T>A | |
2 | g.72891524T>C | CA347232913 | SPR | c.773T>C (p.Phe258Ser) n.718T>C | |
2 | g.72891524T>G | CA347232912 | SPR | c.773T>G (p.Phe258Cys) n.718T>G | |
2 | g.72891525C>A | CA347232915 | SPR | c.774C>A (p.Phe258Leu) n.719C>A | |
2 | g.72891525C>G | CA347232916 | SPR | c.774C>G (p.Phe258Leu) n.719C>G | |
2 | g.72891525C>T | CA426703733 | SPR | c.774C>T (p.Phe258=) n.719C>T | |
2 | g.72891526T>A | CA347232917 | SPR | c.775T>A (p.Tyr259Asn) n.720T>A | |
2 | g.72891526T>C | CA347232918 | SPR | c.775T>C (p.Tyr259His) n.720T>C | |
2 | g.72891526T>G | CA347232919 | SPR | c.775T>G (p.Tyr259Asp) n.720T>G | |
2 | g.72891527A= | CA1260705248 | SPR | c.776A= (p.Tyr259=) n.721A= | |
2 | g.72891527A>C | CA347232920 | SPR | c.776A>C (p.Tyr259Ser) n.721A>C | |
2 | g.72891527A>G | CA1709032 | SPR | c.776A>G (p.Tyr259Cys) n.721A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891527A>T | CA347232921 | SPR | c.776A>T (p.Tyr259Phe) n.721A>T | gnomAD v4 |
2 | g.72891528T>A | CA347232922 | SPR | c.777T>A (p.Tyr259Ter) n.722T>A | |
2 | g.72891528T>C | CA1709033 | SPR | c.777T>C (p.Tyr259=) n.722T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891528T>G | CA347232923 | SPR | c.777T>G (p.Tyr259Ter) n.722T>G | |
2 | g.72891528T= | CA1260705249 | SPR | c.777T= (p.Tyr259=) n.722T= | |
2 | g.72891529G>A | CA347232926 | SPR | c.778G>A (p.Asp260Asn) n.723G>A | |
2 | g.72891529G>C | CA347232925 | SPR | c.778G>C (p.Asp260His) n.723G>C | |
2 | g.72891529G>T | CA347232924 | SPR | c.778G>T (p.Asp260Tyr) n.723G>T | |
2 | g.72891530A= | CA1260705250 | SPR | c.779A= (p.Asp260=) n.724A= | |
2 | g.72891530A>C | CA347232927 | SPR | c.779A>C (p.Asp260Ala) n.724A>C | |
2 | g.72891530A>G | CA1709034 | SPR | c.779A>G (p.Asp260Gly) n.724A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.72891530A>T | CA347232928 | SPR | c.779A>T (p.Asp260Val) n.724A>T | |
2 | g.72891531del | CA2577002022 | SPR | c.780del (p.Asp260GlufsTer10) n.725del | |
2 | g.72891531C>A | CA347232929 | SPR | c.780C>A (p.Asp260Glu) n.725C>A | |
2 | g.72891531C>G | CA347232930 | SPR | c.780C>G (p.Asp260Glu) n.725C>G | |
2 | g.72891531C>T | CA426703735 | SPR | c.780C>T (p.Asp260=) n.725C>T | |
2 | g.72891531_72891535delinsCAAAT | CA1260705251 | SPR | c.780_784delinsCAAAT (p.Asp260=) n.725_729delinsCAAAT | |
2 | g.72891532A>C | CA347232931 | SPR | c.781A>C (p.Lys261Gln) n.726A>C | |
2 | g.72891532A>G | CA347232932 | SPR | c.781A>G (p.Lys261Glu) n.726A>G | |
2 | g.72891532A>T | CA347232933 | SPR | c.781A>T (p.Lys261Ter) n.726A>T | |
2 | g.72891534_72891537del | CA658653749 | SPR | c.783_786del (p.Ter262ProextTer7) n.728_731del | ClinVar dbSNP |
2 | g.72891533A= | CA1260705252 | SPR | c.782A= (p.Lys261=) n.727A= | |
2 | g.72891533A>C | CA347232934 | SPR | c.782A>C (p.Lys261Thr) n.727A>C | |
2 | g.72891533A>G | CA1709035 | SPR | c.782A>G (p.Lys261Arg) n.727A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891533A>T | CA347232935 | SPR | c.782A>T (p.Lys261Ile) n.727A>T | |
2 | g.72891534A>C | CA347232936 | SPR | c.783A>C (p.Lys261Asn) n.728A>C | |
2 | g.72891534A>G | CA426703736 | SPR | c.783A>G (p.Lys261=) n.728A>G | |
2 | g.72891534A>T | CA347232937 | SPR | c.783A>T (p.Lys261Asn) n.728A>T |