Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.72891406C>A | CA426703509 | SPR | c.655C>A (p.Arg219=) n.600C>A | |
2 | g.72891406C= | CA1260705205 | SPR | c.655C= (p.Arg219=) n.600C= | |
2 | g.72891406C>G | CA347232489 | SPR | c.655C>G (p.Arg219Gly) n.600C>G | |
2 | g.72891406C>T | CA1709015 | SPR | c.655C>T (p.Arg219Ter) n.600C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.72891407G>A | CA1709016 | SPR | c.656G>A (p.Arg219Gln) n.601G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891407G>C | CA347232497 | SPR | c.656G>C (p.Arg219Pro) n.601G>C | |
2 | g.72891407G= | CA1260705206 | SPR | c.656G= (p.Arg219=) n.601G= | |
2 | g.72891407G>T | CA347232498 | SPR | c.656G>T (p.Arg219Leu) n.601G>T | |
2 | g.72891408A= | CA1260705207 | SPR | c.657A= (p.Arg219=) n.602A= | |
2 | g.72891408A>C | CA426703511 | SPR | c.657A>C (p.Arg219=) n.602A>C | dbSNP |
2 | g.72891408A>G | CA426703512 | SPR | c.657A>G (p.Arg219=) n.602A>G | ClinVar |
2 | g.72891408A>T | CA426703513 | SPR | c.657A>T (p.Arg219=) n.602A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.72891409A>C | CA347232502 | SPR | c.658A>C (p.Lys220Gln) n.603A>C | |
2 | g.72891409A>G | CA347232504 | SPR | c.658A>G (p.Lys220Glu) n.603A>G | |
2 | g.72891409A>T | CA347232500 | SPR | c.658A>T (p.Lys220Ter) n.603A>T | |
2 | g.72891410A>C | CA347232506 | SPR | c.659A>C (p.Lys220Thr) n.604A>C | |
2 | g.72891410A>G | CA347232508 | SPR | c.659A>G (p.Lys220Arg) n.604A>G | |
2 | g.72891410A>T | CA347232510 | SPR | c.659A>T (p.Lys220Ile) n.604A>T | |
2 | g.72891411A= | CA1260705208 | SPR | c.660A= (p.Lys220=) n.605A= | |
2 | g.72891411A>C | CA347232511 | SPR | c.660A>C (p.Lys220Asn) n.605A>C | |
2 | g.72891411A>G | CA1709017 | SPR | c.660A>G (p.Lys220=) n.605A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.72891411A>T | CA347232514 | SPR | c.660A>T (p.Lys220Asn) n.605A>T | |
2 | g.72891411_72891412delinsAG | CA1260705209 | SPR | c.660_661delinsAG (p.Lys220=) n.605_606delinsAG | |
2 | g.72891412G>A | CA347232519 | SPR | c.661G>A (p.Gly221Arg) n.606G>A | |
2 | g.72891412G>C | CA347232516 | SPR | c.661G>C (p.Gly221Arg) n.606G>C | |
2 | g.72891412G>T | CA347232518 | SPR | c.661G>T (p.Gly221Trp) n.606G>T | |
2 | g.72891414del | CA533656158 | SPR | c.663del (p.Leu222CysfsTer4) n.608del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891413G>A | CA347232521 | SPR | c.662G>A (p.Gly221Glu) n.607G>A | |
2 | g.72891413G>C | CA347232524 | SPR | c.662G>C (p.Gly221Ala) n.607G>C | |
2 | g.72891413G>T | CA347232526 | SPR | c.662G>T (p.Gly221Val) n.607G>T | |
2 | g.72891414G>A | CA426703521 | SPR | c.663G>A (p.Gly221=) n.608G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891414G>C | CA426703522 | SPR | c.663G>C (p.Gly221=) n.608G>C | |
2 | g.72891414G= | CA1260705210 | SPR | c.663G= (p.Gly221=) n.608G= | |
2 | g.72891414G>T | CA426703523 | SPR | c.663G>T (p.Gly221=) n.608G>T | dbSNP gnomAD v4 |
2 | g.72891415C>A | CA347232527 | SPR | c.664C>A (p.Leu222Met) n.609C>A | |
2 | g.72891415C>G | CA347232529 | SPR | c.664C>G (p.Leu222Val) n.609C>G | gnomAD v4 |
2 | g.72891415C>T | CA426703527 | SPR | c.664C>T (p.Leu222=) n.609C>T | COSMIC |
2 | g.72891416T>A | CA347232537 | SPR | c.665T>A (p.Leu222Gln) n.610T>A | |
2 | g.72891416T>C | CA347232532 | SPR | c.665T>C (p.Leu222Pro) n.610T>C | |
2 | g.72891416T>G | CA347232533 | SPR | c.665T>G (p.Leu222Arg) n.610T>G | |
2 | g.72891417G>A | CA1709018 | SPR | c.666G>A (p.Leu222=) n.611G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891417G>C | CA426703528 | SPR | c.666G>C (p.Leu222=) n.611G>C | |
2 | g.72891417G= | CA1260705211 | SPR | c.666G= (p.Leu222=) n.611G= | |
2 | g.72891417G>T | CA426703529 | SPR | c.666G>T (p.Leu222=) n.611G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891418C>A | CA347232541 | SPR | c.667C>A (p.Gln223Lys) n.612C>A | |
2 | g.72891418C= | CA1260705212 | SPR | c.667C= (p.Gln223=) n.612C= | |
2 | g.72891418C>G | CA347232543 | SPR | c.667C>G (p.Gln223Glu) n.612C>G | |
2 | g.72891418C>T | CA1709019 | SPR | c.667C>T (p.Gln223Ter) n.612C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72891419A>C | CA347232547 | SPR | c.668A>C (p.Gln223Pro) n.613A>C | |
2 | g.72891419A>G | CA347232548 | SPR | c.668A>G (p.Gln223Arg) n.613A>G | |
2 | g.72891419A>T | CA347232550 | SPR | c.668A>T (p.Gln223Leu) n.613A>T | |
2 | g.72891420G>A | CA426703532 | SPR | c.669G>A (p.Gln223=) n.614G>A | |
2 | g.72891420G>C | CA347232552 | SPR | c.669G>C (p.Gln223His) n.614G>C | |
2 | g.72891420G>T | CA347232554 | SPR | c.669G>T (p.Gln223His) n.614G>T | |
2 | g.72891421G>A | CA347232556 | SPR | c.670G>A (p.Glu224Lys) n.615G>A | gnomAD v4 |
2 | g.72891421G>C | CA347232558 | SPR | c.670G>C (p.Glu224Gln) n.615G>C | |
2 | g.72891421G>T | CA347232559 | SPR | c.670G>T (p.Glu224Ter) n.615G>T | |
2 | g.72891422A>C | CA347232561 | SPR | c.671A>C (p.Glu224Ala) n.616A>C | |
2 | g.72891422A>G | CA347232569 | SPR | c.671A>G (p.Glu224Gly) n.616A>G | COSMIC |
2 | g.72891422A>T | CA347232563 | SPR | c.671A>T (p.Glu224Val) n.616A>T | |
2 | g.72891423G>A | CA426703538 | SPR | c.672G>A (p.Glu224=) n.617G>A | gnomAD v4 |
2 | g.72891423G>C | CA347232571 | SPR | c.672G>C (p.Glu224Asp) n.617G>C | |
2 | g.72891423G>T | CA347232573 | SPR | c.672G>T (p.Glu224Asp) n.617G>T | gnomAD v4 |
2 | g.72891424C>A | CA347232575 | SPR | c.673C>A (p.Leu225Met) n.618C>A | |
2 | g.72891424C>G | CA347232576 | SPR | c.673C>G (p.Leu225Val) n.618C>G | |
2 | g.72891424C>T | CA426703539 | SPR | c.673C>T (p.Leu225=) n.618C>T | gnomAD v4 |
2 | g.72891425T>A | CA347232579 | SPR | c.674T>A (p.Leu225Gln) n.619T>A | |
2 | g.72891425T>C | CA347232580 | SPR | c.674T>C (p.Leu225Pro) n.619T>C | |
2 | g.72891425T>G | CA347232582 | SPR | c.674T>G (p.Leu225Arg) n.619T>G | |
2 | g.72891426G>A | CA426703541 | SPR | c.675G>A (p.Leu225=) n.620G>A | COSMIC |
2 | g.72891426G>C | CA426703542 | SPR | c.675G>C (p.Leu225=) n.620G>C | |
2 | g.72891426G>T | CA426703543 | SPR | c.675G>T (p.Leu225=) n.620G>T | |
2 | g.72891427A>C | CA347232583 | SPR | c.676A>C (p.Lys226Gln) n.621A>C | |
2 | g.72891427A>G | CA347232584 | SPR | c.676A>G (p.Lys226Glu) n.621A>G | |
2 | g.72891427A>T | CA347232586 | SPR | c.676A>T (p.Lys226Ter) n.621A>T | COSMIC |
2 | g.72891428A>C | CA347232588 | SPR | c.677A>C (p.Lys226Thr) n.622A>C | |
2 | g.72891428A>G | CA347232589 | SPR | c.677A>G (p.Lys226Arg) n.622A>G | gnomAD v4 |
2 | g.72891428A>T | CA347232591 | SPR | c.677A>T (p.Lys226Met) n.622A>T | |
2 | g.72891429G>A | CA426703545 | SPR | c.678G>A (p.Lys226=) n.623G>A | dbSNP gnomAD v4 |
2 | g.72891429G>C | CA347232593 | SPR | c.678G>C (p.Lys226Asn) n.623G>C | |
2 | g.72891429G= | CA1260705213 | SPR | c.678G= (p.Lys226=) n.623G= | |
2 | g.72891429G>T | CA347232595 | SPR | c.678G>T (p.Lys226Asn) n.623G>T | |
2 | g.72891430G>A | CA347232598 | SPR | c.679G>A (p.Ala227Thr) n.624G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891430G>C | CA347232600 | SPR | c.679G>C (p.Ala227Pro) n.624G>C | |
2 | g.72891430G= | CA1260705214 | SPR | c.679G= (p.Ala227=) n.624G= | |
2 | g.72891430G>T | CA347232601 | SPR | c.679G>T (p.Ala227Ser) n.624G>T | |
2 | g.72891431C>A | CA347232603 | SPR | c.680C>A (p.Ala227Glu) n.625C>A | |
2 | g.72891431C>G | CA347232604 | SPR | c.680C>G (p.Ala227Gly) n.625C>G | |
2 | g.72891431C>T | CA347232606 | SPR | c.680C>T (p.Ala227Val) n.625C>T | |
2 | g.72891432A>C | CA426703548 | SPR | c.681A>C (p.Ala227=) n.626A>C | |
2 | g.72891432A>G | CA426703549 | SPR | c.681A>G (p.Ala227=) n.626A>G | |
2 | g.72891432A>T | CA426703550 | SPR | c.681A>T (p.Ala227=) n.626A>T | |
2 | g.72891433A= | CA1260705215 | SPR | c.682A= (p.Lys228=) n.627A= | |
2 | g.72891433A>C | CA347232608 | SPR | c.682A>C (p.Lys228Gln) n.627A>C | |
2 | g.72891433A>G | CA347232610 | SPR | c.682A>G (p.Lys228Glu) n.627A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.72891433A>T | CA347232612 | SPR | c.682A>T (p.Lys228Ter) n.627A>T | |
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 |