| 19 | g.35849000G>A | CA405406663 | NPHS1 | c.988C>T (p.His330Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849000G>C | CA405406664 | NPHS1 | c.988C>G (p.His330Asp)
| |
| 19 | g.35849000G= | CA2333850686 | NPHS1 | c.988C= (p.His330=)
| |
| 19 | g.35849000G>T | CA405406665 | NPHS1 | c.988C>A (p.His330Asn)
| gnomAD v4 |
| 19 | g.35849000_35849001del | CA2814252561 | NPHS1 | c.987_988del (p.His330ArgfsTer11)
| |
| 19 | g.35849001C>A | CA405406666 | NPHS1 | c.987G>T (p.Glu329Asp)
| |
| 19 | g.35849001C>G | CA405406667 | NPHS1 | c.987G>C (p.Glu329Asp)
| |
| 19 | g.35849001C>T | CA507085321 | NPHS1 | c.987G>A (p.Glu329=)
| gnomAD v4 |
| 19 | g.35849002T>A | CA405406668 | NPHS1 | c.986A>T (p.Glu329Val)
| |
| 19 | g.35849002T>C | CA405406670 | NPHS1 | c.986A>G (p.Glu329Gly)
| gnomAD v4 |
| 19 | g.35849002T>G | CA405406671 | NPHS1 | c.986A>C (p.Glu329Ala)
| |
| 19 | g.35849003C>A | CA405406674 | NPHS1 | c.985G>T (p.Glu329Ter)
| |
| 19 | g.35849003C>G | CA405406673 | NPHS1 | c.985G>C (p.Glu329Gln)
| |
| 19 | g.35849003C>T | CA405406672 | NPHS1 | c.985G>A (p.Glu329Lys)
| COSMIC |
| 19 | g.35849004C>A | CA405406675 | NPHS1 | c.984G>T (p.Gln328His)
| |
| 19 | g.35849004C>G | CA405406676 | NPHS1 | c.984G>C (p.Gln328His)
| |
| 19 | g.35849004C>T | CA507085322 | NPHS1 | c.984G>A (p.Gln328=)
| ClinVar dbSNP |
| 19 | g.35849005T>A | CA405406677 | NPHS1 | c.983A>T (p.Gln328Leu)
| dbSNP |
| 19 | g.35849005T>C | CA405406678 | NPHS1 | c.983A>G (p.Gln328Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849005T>G | CA405406679 | NPHS1 | c.983A>C (p.Gln328Pro)
| |
| 19 | g.35849005T= | CA2333850687 | NPHS1 | c.983A= (p.Gln328=)
| |
| 19 | g.35849006G>A | CA405406680 | NPHS1 | c.982C>T (p.Gln328Ter)
| gnomAD v4 |
| 19 | g.35849006G>C | CA405406681 | NPHS1 | c.982C>G (p.Gln328Glu)
| |
| 19 | g.35849006G>T | CA405406682 | NPHS1 | c.982C>A (p.Gln328Lys)
| gnomAD v4 |
| 19 | g.35849007G>A | CA507085323 | NPHS1 | c.981C>T (p.Thr327=)
| gnomAD v4 |
| 19 | g.35849007G>C | CA507085324 | NPHS1 | c.981C>G (p.Thr327=)
| dbSNP |
| 19 | g.35849007G= | CA2333850688 | NPHS1 | c.981C= (p.Thr327=)
| |
| 19 | g.35849007G>T | CA507085325 | NPHS1 | c.981C>A (p.Thr327=)
| |
| 19 | g.35849008G>A | CA405406683 | NPHS1 | c.980C>T (p.Thr327Ile)
| |
| 19 | g.35849008G>C | CA405406684 | NPHS1 | c.980C>G (p.Thr327Ser)
| |
| 19 | g.35849008G>T | CA405406685 | NPHS1 | c.980C>A (p.Thr327Asn)
| gnomAD v4 |
| 19 | g.35849009T>A | CA405406688 | NPHS1 | c.979A>T (p.Thr327Ser)
| |
| 19 | g.35849009T>C | CA405406687 | NPHS1 | c.979A>G (p.Thr327Ala)
| |
| 19 | g.35849009T>G | CA405406686 | NPHS1 | c.979A>C (p.Thr327Pro)
| |
| 19 | g.35849010C>A | CA507314374 | NPHS1 | c.978G>T (p.Gly326=)
| |
| 19 | g.35849010C= | CA2333850689 | NPHS1 | c.978G= (p.Gly326=)
| |
| 19 | g.35849010C>G | CA507314375 | NPHS1 | c.978G>C (p.Gly326=)
| |
| 19 | g.35849010C>T | CA307787637 | NPHS1 | c.978G>A (p.Gly326=)
| dbSNP COSMIC |
| 19 | g.35849011_35849012del | CA2695228642 | NPHS1 | c.977_978del (p.Gly326AspfsTer15)
| |
| 19 | g.35849011C>A | CA405406689 | NPHS1 | c.977G>T (p.Gly326Val)
| |
| 19 | g.35849011C>G | CA405406690 | NPHS1 | c.977G>C (p.Gly326Ala)
| |
| 19 | g.35849011C>T | CA405406691 | NPHS1 | c.977G>A (p.Gly326Glu)
| gnomAD v4 |
| 19 | g.35849012C>A | CA405406692 | NPHS1 | c.976G>T (p.Gly326Trp)
| |
| 19 | g.35849012C>G | CA405406693 | NPHS1 | c.976G>C (p.Gly326Arg)
| |
| 19 | g.35849012C>T | CA405406694 | NPHS1 | c.976G>A (p.Gly326Arg)
| |
| 19 | g.35849013T>A | CA507314376 | NPHS1 | c.975A>T (p.Ala325=)
| |
| 19 | g.35849013T>C | CA507314377 | NPHS1 | c.975A>G (p.Ala325=)
| |
| 19 | g.35849013T>G | CA507314378 | NPHS1 | c.975A>C (p.Ala325=)
| gnomAD v4 |
| 19 | g.35849014G>A | CA9390589 | NPHS1 | c.974C>T (p.Ala325Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849014G>C | CA405406695 | NPHS1 | c.974C>G (p.Ala325Gly)
| |
| 19 | g.35849014G= | CA2333850690 | NPHS1 | c.974C= (p.Ala325=)
| |
| 19 | g.35849014G>T | CA405406696 | NPHS1 | c.974C>A (p.Ala325Glu)
| |
| 19 | g.35849015C>A | CA9390590 | NPHS1 | c.973G>T (p.Ala325Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849015C= | CA2333850691 | NPHS1 | c.973G= (p.Ala325=)
| |
| 19 | g.35849015C>G | CA405406697 | NPHS1 | c.973G>C (p.Ala325Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849015C>T | CA405406698 | NPHS1 | c.973G>A (p.Ala325Thr)
| gnomAD v4 |
| 19 | g.35849016A>C | CA507314379 | NPHS1 | c.972T>G (p.Ser324=)
| |
| 19 | g.35849016A>G | CA507314380 | NPHS1 | c.972T>C (p.Ser324=)
| |
| 19 | g.35849016A>T | CA507314381 | NPHS1 | c.972T>A (p.Ser324=)
| |
| 19 | g.35849017G>A | CA405406700 | NPHS1 | c.971C>T (p.Ser324Phe)
| |
| 19 | g.35849017G>C | CA405406701 | NPHS1 | c.971C>G (p.Ser324Cys)
| |
| 19 | g.35849017G>T | CA405406699 | NPHS1 | c.971C>A (p.Ser324Tyr)
| gnomAD v4 |
| 19 | g.35849018A>C | CA405406704 | NPHS1 | c.970T>G (p.Ser324Ala)
| |
| 19 | g.35849018A>G | CA405406702 | NPHS1 | c.970T>C (p.Ser324Pro)
| |
| 19 | g.35849018A>T | CA405406703 | NPHS1 | c.970T>A (p.Ser324Thr)
| |
| 19 | g.35849019C>A | CA507314383 | NPHS1 | c.969G>T (p.Val323=)
| |
| 19 | g.35849019C>G | CA507314385 | NPHS1 | c.969G>C (p.Val323=)
| |
| 19 | g.35849019C>T | CA507314384 | NPHS1 | c.969G>A (p.Val323=)
| gnomAD v4 |
| 19 | g.35849020A>C | CA405406705 | NPHS1 | c.968T>G (p.Val323Gly)
| gnomAD v4 |
| 19 | g.35849020A>G | CA405406706 | NPHS1 | c.968T>C (p.Val323Ala)
| |
| 19 | g.35849020A>T | CA405406707 | NPHS1 | c.968T>A (p.Val323Glu)
| |
| 19 | g.35849021C>A | CA405406709 | NPHS1 | c.967G>T (p.Val323Leu)
| |
| 19 | g.35849021C= | CA2333850692 | NPHS1 | c.967G= (p.Val323=)
| |
| 19 | g.35849021C>G | CA405406708 | NPHS1 | c.967G>C (p.Val323Leu)
| |
| 19 | g.35849021C>T | CA9390591 | NPHS1 | c.967G>A (p.Val323Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849022G>A | CA9390592 | NPHS1 | c.966C>T (p.Ser322=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849022G>C | CA405406710 | NPHS1 | c.966C>G (p.Ser322Arg)
| |
| 19 | g.35849022G= | CA2333850693 | NPHS1 | c.966C= (p.Ser322=)
| |
| 19 | g.35849022G>T | CA405406711 | NPHS1 | c.966C>A (p.Ser322Arg)
| |
| 19 | g.35849023C>A | CA405406712 | NPHS1 | c.965G>T (p.Ser322Ile)
| |
| 19 | g.35849023C>G | CA405406713 | NPHS1 | c.965G>C (p.Ser322Thr)
| |
| 19 | g.35849023C>T | CA405406714 | NPHS1 | c.965G>A (p.Ser322Asn)
| gnomAD v4 |
| 19 | g.35849024T>A | CA405406715 | NPHS1 | c.964A>T (p.Ser322Cys)
| |
| 19 | g.35849024T>C | CA405406717 | NPHS1 | c.964A>G (p.Ser322Gly)
| |
| 19 | g.35849024T>G | CA405406716 | NPHS1 | c.964A>C (p.Ser322Arg)
| |
| 19 | g.35849025G>A | CA507314389 | NPHS1 | c.963C>T (p.Asn321=)
| gnomAD v4 |
| 19 | g.35849025G>C | CA405406718 | NPHS1 | c.963C>G (p.Asn321Lys)
| gnomAD v4 |
| 19 | g.35849025G>T | CA405406719 | NPHS1 | c.963C>A (p.Asn321Lys)
| COSMIC |
| 19 | g.35849026T>A | CA405406720 | NPHS1 | c.962A>T (p.Asn321Ile)
| |
| 19 | g.35849026T>C | CA405406721 | NPHS1 | c.962A>G (p.Asn321Ser)
| |
| 19 | g.35849026T>G | CA405406722 | NPHS1 | c.962A>C (p.Asn321Thr)
| |
| 19 | g.35849027T>A | CA405406723 | NPHS1 | c.961A>T (p.Asn321Tyr)
| |
| 19 | g.35849027T>C | CA405406724 | NPHS1 | c.961A>G (p.Asn321Asp)
| |
| 19 | g.35849027T>G | CA405406725 | NPHS1 | c.961A>C (p.Asn321His)
| dbSNP gnomAD v2 |
| 19 | g.35849027T= | CA2333850694 | NPHS1 | c.961A= (p.Asn321=)
| |
| 19 | g.35849028G>A | CA507314390 | NPHS1 | c.960C>T (p.His320=)
| |
| 19 | g.35849028G>C | CA405406726 | NPHS1 | c.960C>G (p.His320Gln)
| |
| 19 | g.35849028G= | CA2333850695 | NPHS1 | c.960C= (p.His320=)
| |
| 19 | g.35849028G>T | CA307787638 | NPHS1 | c.960C>A (p.His320Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849029T>A | CA405406729 | NPHS1 | c.959A>T (p.His320Leu)
| |
| 19 | g.35849029T>C | CA405406728 | NPHS1 | c.959A>G (p.His320Arg)
| |
| 19 | g.35849029T>G | CA405406727 | NPHS1 | c.959A>C (p.His320Pro)
| |
| 19 | g.35849030G>A | CA405406730 | NPHS1 | c.958C>T (p.His320Tyr)
| gnomAD v4 |
| 19 | g.35849030G>C | CA405406731 | NPHS1 | c.958C>G (p.His320Asp)
| gnomAD v4 |
| 19 | g.35849030G>T | CA405406732 | NPHS1 | c.958C>A (p.His320Asn)
| gnomAD v4 |
| 19 | g.35849032del | CA2584603887 | NPHS1 | c.958del (p.His320ThrfsTer?)
| gnomAD v4 |
| 19 | g.35849031G>A | CA507314391 | NPHS1 | c.957C>T (p.Ala319=)
| |
| 19 | g.35849031G>C | CA507314393 | NPHS1 | c.957C>G (p.Ala319=)
| |
| 19 | g.35849031G= | CA2333850696 | NPHS1 | c.957C= (p.Ala319=)
| |
| 19 | g.35849031G>T | CA507314392 | NPHS1 | c.957C>A (p.Ala319=)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849032G>A | CA405406733 | NPHS1 | c.956C>T (p.Ala319Val)
| dbSNP |
| 19 | g.35849032G>C | CA405406734 | NPHS1 | c.956C>G (p.Ala319Gly)
| |
| 19 | g.35849032G= | CA2333850697 | NPHS1 | c.956C= (p.Ala319=)
| |
| 19 | g.35849032G>T | CA405406735 | NPHS1 | c.956C>A (p.Ala319Asp)
| gnomAD v4 |
| 19 | g.35849033C>A | CA405406738 | NPHS1 | c.955G>T (p.Ala319Ser)
| |
| 19 | g.35849033C>G | CA405406736 | NPHS1 | c.955G>C (p.Ala319Pro)
| |
| 19 | g.35849033C>T | CA405406737 | NPHS1 | c.955G>A (p.Ala319Thr)
| |
| 19 | g.35849034C>A | CA405406739 | NPHS1 | c.954G>T (p.Glu318Asp)
| |
| 19 | g.35849034C>G | CA405406740 | NPHS1 | c.954G>C (p.Glu318Asp)
| |
| 19 | g.35849034C>T | CA507314397 | NPHS1 | c.954G>A (p.Glu318=)
| |
| 19 | g.35849035T>A | CA9390593 | NPHS1 | c.953A>T (p.Glu318Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849035T>C | CA405406741 | NPHS1 | c.953A>G (p.Glu318Gly)
| |
| 19 | g.35849035T>G | CA405406742 | NPHS1 | c.953A>C (p.Glu318Ala)
| |
| 19 | g.35849035T= | CA2333850698 | NPHS1 | c.953A= (p.Glu318=)
| |
| 19 | g.35849036C>A | CA405406743 | NPHS1 | c.952G>T (p.Glu318Ter)
| |
| 19 | g.35849036C= | CA2333850699 | NPHS1 | c.952G= (p.Glu318=)
| |
| 19 | g.35849036C>G | CA405406744 | NPHS1 | c.952G>C (p.Glu318Gln)
| |
| 19 | g.35849036C>T | CA9390594 | NPHS1 | c.952G>A (p.Glu318Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849037G>A | CA9390595 | NPHS1 | c.951C>T (p.Cys317=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849037G>C | CA405406745 | NPHS1 | c.951C>G (p.Cys317Trp)
| |
| 19 | g.35849037G= | CA2333850700 | NPHS1 | c.951C= (p.Cys317=)
| |
| 19 | g.35849037G>T | CA405406746 | NPHS1 | c.951C>A (p.Cys317Ter)
| ClinVar |
| 19 | g.35849038C>A | CA405406747 | NPHS1 | c.950G>T (p.Cys317Phe)
| |
| 19 | g.35849038C>G | CA405406748 | NPHS1 | c.950G>C (p.Cys317Ser)
| |
| 19 | g.35849038C>T | CA405406749 | NPHS1 | c.950G>A (p.Cys317Tyr)
| gnomAD v4 |
| 19 | g.35849039A>C | CA405406750 | NPHS1 | c.949T>G (p.Cys317Gly)
| |
| 19 | g.35849039A>G | CA405406751 | NPHS1 | c.949T>C (p.Cys317Arg)
| |
| 19 | g.35849039A>T | CA405406752 | NPHS1 | c.949T>A (p.Cys317Ser)
| |
| 19 | g.35849040G>A | CA507314404 | NPHS1 | c.948C>T (p.Ser316=)
| |
| 19 | g.35849040G>C | CA405406753 | NPHS1 | c.948C>G (p.Ser316Arg)
| |
| 19 | g.35849040G= | CA2333850701 | NPHS1 | c.948C= (p.Ser316=)
| |
| 19 | g.35849040G>T | CA307787650 | NPHS1 | c.948C>A (p.Ser316Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849041C>A | CA405406756 | NPHS1 | c.947G>T (p.Ser316Ile)
| |
| 19 | g.35849041C= | CA2333850702 | NPHS1 | c.947G= (p.Ser316=)
| |
| 19 | g.35849041C>G | CA405406755 | NPHS1 | c.947G>C (p.Ser316Thr)
| |
| 19 | g.35849041C>T | CA405406754 | NPHS1 | c.947G>A (p.Ser316Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849042T>A | CA405406757 | NPHS1 | c.946A>T (p.Ser316Cys)
| dbSNP |
| 19 | g.35849042T>C | CA405406759 | NPHS1 | c.946A>G (p.Ser316Gly)
| |
| 19 | g.35849042T>G | CA405406758 | NPHS1 | c.946A>C (p.Ser316Arg)
| |
| 19 | g.35849042T= | CA2333850703 | NPHS1 | c.946A= (p.Ser316=)
| |
| 19 | g.35849043G>A | CA9390596 | NPHS1 | c.945C>T (p.Leu315=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849043G>C | CA507314405 | NPHS1 | c.945C>G (p.Leu315=)
| ClinVar COSMIC |
| 19 | g.35849043G= | CA2333850704 | NPHS1 | c.945C= (p.Leu315=)
| |
| 19 | g.35849043G>T | CA507314406 | NPHS1 | c.945C>A (p.Leu315=)
| gnomAD v4 |
| 19 | g.35849044A= | CA2333850705 | NPHS1 | c.944T= (p.Leu315=)
| |
| 19 | g.35849044A>C | CA405406762 | NPHS1 | c.944T>G (p.Leu315Arg)
| dbSNP |
| 19 | g.35849044A>G | CA405406760 | NPHS1 | c.944T>C (p.Leu315Pro)
| |
| 19 | g.35849044A>T | CA405406761 | NPHS1 | c.944T>A (p.Leu315His)
| |
| 19 | g.35849045G>A | CA405406763 | NPHS1 | c.943C>T (p.Leu315Phe)
| |
| 19 | g.35849045G>C | CA405406764 | NPHS1 | c.943C>G (p.Leu315Val)
| |
| 19 | g.35849045G>T | CA405406765 | NPHS1 | c.943C>A (p.Leu315Ile)
| gnomAD v4 |
| 19 | g.35849046C>A | CA405406766 | NPHS1 | c.942G>T (p.Gln314His)
| gnomAD v4 |
| 19 | g.35849046C>G | CA405406767 | NPHS1 | c.942G>C (p.Gln314His)
| |
| 19 | g.35849046C>T | CA507314407 | NPHS1 | c.942G>A (p.Gln314=)
| |
| 19 | g.35849047T>A | CA405406768 | NPHS1 | c.941A>T (p.Gln314Leu)
| gnomAD v4 |
| 19 | g.35849047T>C | CA405406769 | NPHS1 | c.941A>G (p.Gln314Arg)
| |
| 19 | g.35849047T>G | CA405406770 | NPHS1 | c.941A>C (p.Gln314Pro)
| |
| 19 | g.35849048G>A | CA405406771 | NPHS1 | c.940C>T (p.Gln314Ter)
| gnomAD v4 |
| 19 | g.35849048G>C | CA405406772 | NPHS1 | c.940C>G (p.Gln314Glu)
| |
| 19 | g.35849048G= | CA2333850706 | NPHS1 | c.940C= (p.Gln314=)
| |
| 19 | g.35849048G>T | CA405406773 | NPHS1 | c.940C>A (p.Gln314Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849049C>A | CA507314409 | NPHS1 | c.939G>T (p.Ala313=)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849049C= | CA2333850707 | NPHS1 | c.939G= (p.Ala313=)
| |
| 19 | g.35849049C>G | CA507314410 | NPHS1 | c.939G>C (p.Ala313=)
| |
| 19 | g.35849049C>T | CA9390597 | NPHS1 | c.939G>A (p.Ala313=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849050G>A | CA9390598 | NPHS1 | c.938C>T (p.Ala313Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849050G>C | CA405406774 | NPHS1 | c.938C>G (p.Ala313Gly)
| dbSNP |
| 19 | g.35849050G= | CA2333850708 | NPHS1 | c.938C= (p.Ala313=)
| |
| 19 | g.35849050G>T | CA405406775 | NPHS1 | c.938C>A (p.Ala313Glu)
| gnomAD v4 |
| 19 | g.35849051C>A | CA405406776 | NPHS1 | c.937G>T (p.Ala313Ser)
| |
| 19 | g.35849051C>G | CA405406777 | NPHS1 | c.937G>C (p.Ala313Pro)
| |
| 19 | g.35849051C>T | CA405406778 | NPHS1 | c.937G>A (p.Ala313Thr)
| gnomAD v4 |
| 19 | g.35849052T>A | CA507314414 | NPHS1 | c.936A>T (p.Gly312=)
| |
| 19 | g.35849052T>C | CA507314413 | NPHS1 | c.936A>G (p.Gly312=)
| |
| 19 | g.35849052T>G | CA507314411 | NPHS1 | c.936A>C (p.Gly312=)
| |
| 19 | g.35849053C>A | CA405406779 | NPHS1 | c.935G>T (p.Gly312Val)
| |
| 19 | g.35849053C>G | CA405406780 | NPHS1 | c.935G>C (p.Gly312Ala)
| gnomAD v4 |
| 19 | g.35849053C>T | CA405406781 | NPHS1 | c.935G>A (p.Gly312Glu)
| |
| 19 | g.35849054C>A | CA405406782 | NPHS1 | c.934G>T (p.Gly312Ter)
| |
| 19 | g.35849054C>G | CA405406783 | NPHS1 | c.934G>C (p.Gly312Arg)
| |
| 19 | g.35849054C>T | CA405406784 | NPHS1 | c.934G>A (p.Gly312Arg)
| gnomAD v4 |
| 19 | g.35849055A>C | CA405406786 | NPHS1 | c.933T>G (p.His311Gln)
| |
| 19 | g.35849055A>G | CA507314415 | NPHS1 | c.933T>C (p.His311=)
| |
| 19 | g.35849055A>T | CA405406785 | NPHS1 | c.933T>A (p.His311Gln)
| gnomAD v4 |
| 19 | g.35849056del | CA507314417 | NPHS1 | c.932del (p.His311LeufsTer?)
| COSMIC |
| 19 | g.35849056T>A | CA405406787 | NPHS1 | c.932A>T (p.His311Leu)
| |
| 19 | g.35849056T>C | CA307787669 | NPHS1 | c.932A>G (p.His311Arg)
| ClinVar dbSNP |
| 19 | g.35849056T>G | CA307787672 | NPHS1 | c.932A>C (p.His311Pro)
| dbSNP |
| 19 | g.35849056T= | CA2333850709 | NPHS1 | c.932A= (p.His311=)
| |
| 19 | g.35849057G>A | CA405406788 | NPHS1 | c.931C>T (p.His311Tyr)
| |
| 19 | g.35849057G>C | CA405406789 | NPHS1 | c.931C>G (p.His311Asp)
| |
| 19 | g.35849057G>T | CA405406790 | NPHS1 | c.931C>A (p.His311Asn)
| |
| 19 | g.35849058G>A | CA507314418 | NPHS1 | c.930C>T (p.Asp310=)
| |
| 19 | g.35849058G>C | CA405406791 | NPHS1 | c.930C>G (p.Asp310Glu)
| |
| 19 | g.35849058G>T | CA405406792 | NPHS1 | c.930C>A (p.Asp310Glu)
| gnomAD v4 |
| 19 | g.35849059T>A | CA405406793 | NPHS1 | c.929A>T (p.Asp310Val)
| |
| 19 | g.35849059T>C | CA405406794 | NPHS1 | c.929A>G (p.Asp310Gly)
| |
| 19 | g.35849059T>G | CA405406795 | NPHS1 | c.929A>C (p.Asp310Ala)
| |
| 19 | g.35849060C>A | CA405406796 | NPHS1 | c.928G>T (p.Asp310Tyr)
| ClinVar |
| 19 | g.35849060C= | CA2333850710 | NPHS1 | c.928G= (p.Asp310=)
| |
| 19 | g.35849060C>G | CA405406797 | NPHS1 | c.928G>C (p.Asp310His)
| |
| 19 | g.35849060C>T | CA9390599 | NPHS1 | c.928G>A (p.Asp310Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849061T>A | CA405406798 | NPHS1 | c.927A>T (p.Glu309Asp)
| |
| 19 | g.35849061T>C | CA507314422 | NPHS1 | c.927A>G (p.Glu309=)
| |
| 19 | g.35849061T>G | CA405406799 | NPHS1 | c.927A>C (p.Glu309Asp)
| |
| 19 | g.35849062T>A | CA405406800 | NPHS1 | c.926A>T (p.Glu309Val)
| |
| 19 | g.35849062T>C | CA405406801 | NPHS1 | c.926A>G (p.Glu309Gly)
| |
| 19 | g.35849062T>G | CA405406802 | NPHS1 | c.926A>C (p.Glu309Ala)
| |
| 19 | g.35849063C>A | CA405406803 | NPHS1 | c.925G>T (p.Glu309Ter)
| |
| 19 | g.35849063C= | CA2333850711 | NPHS1 | c.925G= (p.Glu309=)
| |
| 19 | g.35849063C>G | CA405406804 | NPHS1 | c.925G>C (p.Glu309Gln)
| |
| 19 | g.35849063C>T | CA307787673 | NPHS1 | c.925G>A (p.Glu309Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849064T>A | CA507314424 | NPHS1 | c.924A>T (p.Pro308=)
| |
| 19 | g.35849064T>C | CA507314425 | NPHS1 | c.924A>G (p.Pro308=)
| |
| 19 | g.35849064T>G | CA507314426 | NPHS1 | c.924A>C (p.Pro308=)
| |
| 19 | g.35849065G>A | CA405406805 | NPHS1 | c.923C>T (p.Pro308Leu)
| gnomAD v4 |
| 19 | g.35849065G>C | CA405406806 | NPHS1 | c.923C>G (p.Pro308Arg)
| |
| 19 | g.35849065G>T | CA405406807 | NPHS1 | c.923C>A (p.Pro308Gln)
| gnomAD v4 |
| 19 | g.35849066G>A | CA405406808 | NPHS1 | c.922C>T (p.Pro308Ser)
| |
| 19 | g.35849066G>C | CA405406809 | NPHS1 | c.922C>G (p.Pro308Ala)
| |
| 19 | g.35849066G>T | CA405406810 | NPHS1 | c.922C>A (p.Pro308Thr)
| gnomAD v4 COSMIC |
| 19 | g.35849067C>A | CA405406812 | NPHS1 | c.921G>T (p.Arg307Ser)
| |
| 19 | g.35849067C= | CA2333850712 | NPHS1 | c.921G= (p.Arg307=)
| |
| 19 | g.35849067C>G | CA405406811 | NPHS1 | c.921G>C (p.Arg307Ser)
| |
| 19 | g.35849067C>T | CA307787675 | NPHS1 | c.921G>A (p.Arg307=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849068C>A | CA405406813 | NPHS1 | c.920G>T (p.Arg307Met)
| |
| 19 | g.35849068C>G | CA405406814 | NPHS1 | c.920G>C (p.Arg307Thr)
| |
| 19 | g.35849068C>T | CA405406815 | NPHS1 | c.920G>A (p.Arg307Lys)
| |
| 19 | g.35849069_35849070del | CA2736059230 | NPHS1 | c.919_920del (p.Arg307AlafsTer?)
| dbSNP |
| 19 | g.35849069T>A | CA405406816 | NPHS1 | c.919A>T (p.Arg307Trp)
| |
| 19 | g.35849069T>C | CA405406817 | NPHS1 | c.919A>G (p.Arg307Gly)
| |
| 19 | g.35849069T>G | CA507314429 | NPHS1 | c.919A>C (p.Arg307=)
| |
| 19 | g.35849070C>A | CA507314430 | NPHS1 | c.918G>T (p.Val306=)
| gnomAD v4 |
| 19 | g.35849070C>G | CA507314431 | NPHS1 | c.918G>C (p.Val306=)
| |
| 19 | g.35849070C>T | CA507314433 | NPHS1 | c.918G>A (p.Val306=)
| |
| 19 | g.35849071A>C | CA405406818 | NPHS1 | c.917T>G (p.Val306Gly)
| |
| 19 | g.35849071A>G | CA405406819 | NPHS1 | c.917T>C (p.Val306Ala)
| |
| 19 | g.35849071A>T | CA405406820 | NPHS1 | c.917T>A (p.Val306Glu)
| |
| 19 | g.35849072C>A | CA405406821 | NPHS1 | c.916G>T (p.Val306Leu)
| |
| 19 | g.35849072C= | CA2333850713 | NPHS1 | c.916G= (p.Val306=)
| |
| 19 | g.35849072C>G | CA405406822 | NPHS1 | c.916G>C (p.Val306Leu)
| gnomAD v4 |
| 19 | g.35849072C>T | CA10648557 | NPHS1 | c.916G>A (p.Val306Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849073G>A | CA9390600 | NPHS1 | c.915C>T (p.Thr305=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849073G>C | CA507314436 | NPHS1 | c.915C>G (p.Thr305=)
| |
| 19 | g.35849073G= | CA2333850714 | NPHS1 | c.915C= (p.Thr305=)
| |
| 19 | g.35849073G>T | CA507314435 | NPHS1 | c.915C>A (p.Thr305=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.35849074G>A | CA405406823 | NPHS1 | c.914C>T (p.Thr305Ile)
| dbSNP gnomAD v2 COSMIC |
| 19 | g.35849074G>C | CA405406824 | NPHS1 | c.914C>G (p.Thr305Ser)
| |
| 19 | g.35849074G= | CA2333850715 | NPHS1 | c.914C= (p.Thr305=)
| |
| 19 | g.35849074G>T | CA405406825 | NPHS1 | c.914C>A (p.Thr305Asn)
| gnomAD v4 |
| 19 | g.35849075T>A | CA405406826 | NPHS1 | c.913A>T (p.Thr305Ser)
| |
| 19 | g.35849075T>C | CA405406828 | NPHS1 | c.913A>G (p.Thr305Ala)
| gnomAD v4 |
| 19 | g.35849075T>G | CA405406827 | NPHS1 | c.913A>C (p.Thr305Pro)
| |
| 19 | g.35849076C>A | CA405406829 | NPHS1 | c.912G>T (p.Met304Ile)
| |
| 19 | g.35849076C= | CA2333850716 | NPHS1 | c.912G= (p.Met304=)
| |
| 19 | g.35849076C>G | CA405406830 | NPHS1 | c.912G>C (p.Met304Ile)
| |
| 19 | g.35849076C>T | CA405406831 | NPHS1 | c.912G>A (p.Met304Ile)
| dbSNP gnomAD v4 |
| 19 | g.35849077A>C | CA405406832 | NPHS1 | c.911T>G (p.Met304Arg)
| |
| 19 | g.35849077A>G | CA405406833 | NPHS1 | c.911T>C (p.Met304Thr)
| gnomAD v4 |
| 19 | g.35849077A>T | CA405406834 | NPHS1 | c.911T>A (p.Met304Lys)
| |
| 19 | g.35849078T>A | CA405406835 | NPHS1 | c.910A>T (p.Met304Leu)
| |
| 19 | g.35849078T>C | CA405406836 | NPHS1 | c.910A>G (p.Met304Val)
| |
| 19 | g.35849078T>G | CA405406837 | NPHS1 | c.910A>C (p.Met304Leu)
| |
| 19 | g.35849079C>A | CA507314441 | NPHS1 | c.909G>T (p.Val303=)
| |
| 19 | g.35849079C>G | CA507314443 | NPHS1 | c.909G>C (p.Val303=)
| |
| 19 | g.35849079C>T | CA507314442 | NPHS1 | c.909G>A (p.Val303=)
| |
| 19 | g.35849082_35849089del | CA2584603888 | NPHS1 | c.902_909del (p.Val301AspfsTer?)
| ClinVar gnomAD v4 |
| 19 | g.35849080A>C | CA405406838 | NPHS1 | c.908T>G (p.Val303Gly)
| |
| 19 | g.35849080A>G | CA405406839 | NPHS1 | c.908T>C (p.Val303Ala)
| |
| 19 | g.35849080A>T | CA405406840 | NPHS1 | c.908T>A (p.Val303Glu)
| |
| 19 | g.35849081C>A | CA405406841 | NPHS1 | c.907G>T (p.Val303Leu)
| |
| 19 | g.35849081C= | CA2333850717 | NPHS1 | c.907G= (p.Val303=)
| |
| 19 | g.35849081C>G | CA405406842 | NPHS1 | c.907G>C (p.Val303Leu)
| |
| 19 | g.35849081C>T | CA9390601 | NPHS1 | c.907G>A (p.Val303Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849082C>A | CA507314445 | NPHS1 | c.906G>T (p.Leu302=)
| |
| 19 | g.35849082C>G | CA507314446 | NPHS1 | c.906G>C (p.Leu302=)
| |
| 19 | g.35849082C>T | CA507314447 | NPHS1 | c.906G>A (p.Leu302=)
| gnomAD v4 |
| 19 | g.35849084_35849086dup | CA2584603889 | NPHS1 | c.904_906dup (p.Leu302_Val303insLeu)
| gnomAD v4 |
| 19 | g.35849083A= | CA2333850718 | NPHS1 | c.905T= (p.Leu302=)
| |
| 19 | g.35849083A>C | CA405406843 | NPHS1 | c.905T>G (p.Leu302Arg)
| |
| 19 | g.35849083A>G | CA405406844 | NPHS1 | c.905T>C (p.Leu302Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849083A>T | CA405406845 | NPHS1 | c.905T>A (p.Leu302Gln)
| |
| 19 | g.35849084del | CA2695198194 | NPHS1 | c.904del (p.Leu302TrpfsTer2)
| ClinVar |
| 19 | g.35849084G>A | CA507314448 | NPHS1 | c.904C>T (p.Leu302=)
| gnomAD v4 COSMIC |
| 19 | g.35849084G>C | CA405406846 | NPHS1 | c.904C>G (p.Leu302Val)
| |
| 19 | g.35849084G>T | CA405406847 | NPHS1 | c.904C>A (p.Leu302Met)
| gnomAD v4 |
| 19 | g.35849085C>A | CA9390602 | NPHS1 | c.903G>T (p.Val301=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849085C= | CA2333850719 | NPHS1 | c.903G= (p.Val301=)
| |
| 19 | g.35849085C>G | CA507314450 | NPHS1 | c.903G>C (p.Val301=)
| |
| 19 | g.35849085C>T | CA507314451 | NPHS1 | c.903G>A (p.Val301=)
| ClinVar dbSNP |
| 19 | g.35849086A>C | CA405406848 | NPHS1 | c.902T>G (p.Val301Gly)
| |
| 19 | g.35849086A>G | CA405406849 | NPHS1 | c.902T>C (p.Val301Ala)
| |
| 19 | g.35849086A>T | CA405406850 | NPHS1 | c.902T>A (p.Val301Glu)
| |
| 19 | g.35849087C>A | CA405406851 | NPHS1 | c.901G>T (p.Val301Leu)
| |
| 19 | g.35849087C= | CA2333850720 | NPHS1 | c.901G= (p.Val301=)
| |
| 19 | g.35849087C>G | CA405406852 | NPHS1 | c.901G>C (p.Val301Leu)
| |
| 19 | g.35849087C>T | CA405406853 | NPHS1 | c.901G>A (p.Val301Met)
| dbSNP gnomAD v4 |
| 19 | g.35849088A= | CA2333850721 | NPHS1 | c.900T= (p.Ser300=)
| |
| 19 | g.35849088A>C | CA405406855 | NPHS1 | c.900T>G (p.Ser300Arg)
| |
| 19 | g.35849088A>G | CA507314453 | NPHS1 | c.900T>C (p.Ser300=)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35849088A>T | CA405406854 | NPHS1 | c.900T>A (p.Ser300Arg)
| |
| 19 | g.35849089C>A | CA405406856 | NPHS1 | c.899G>T (p.Ser300Ile)
| |
| 19 | g.35849089C= | CA2333850722 | NPHS1 | c.899G= (p.Ser300=)
| |
| 19 | g.35849089C>G | CA405406857 | NPHS1 | c.899G>C (p.Ser300Thr)
| |
| 19 | g.35849089C>T | CA9390603 | NPHS1 | c.899G>A (p.Ser300Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849090T>A | CA405406858 | NPHS1 | c.898A>T (p.Ser300Cys)
| |
| 19 | g.35849090T>C | CA405406859 | NPHS1 | c.898A>G (p.Ser300Gly)
| |
| 19 | g.35849090T>G | CA405406860 | NPHS1 | c.898A>C (p.Ser300Arg)
| |
| 19 | g.35849091G>A | CA507314455 | NPHS1 | c.897C>T (p.Arg299=)
| gnomAD v4 |
| 19 | g.35849091G>C | CA507314457 | NPHS1 | c.897C>G (p.Arg299=)
| |
| 19 | g.35849091G>T | CA507314459 | NPHS1 | c.897C>A (p.Arg299=)
| |
| 19 | g.35849092C>A | CA9390605 | NPHS1 | c.896G>T (p.Arg299Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849092C= | CA2333850723 | NPHS1 | c.896G= (p.Arg299=)
| |
| 19 | g.35849092C>G | CA405406861 | NPHS1 | c.896G>C (p.Arg299Pro)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35849092C>T | CA9390604 | NPHS1 | c.896G>A (p.Arg299His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849093G>A | CA9390606 | NPHS1 | c.895C>T (p.Arg299Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849093G>C | CA405406862 | NPHS1 | c.895C>G (p.Arg299Gly)
| |
| 19 | g.35849093G= | CA2333850724 | NPHS1 | c.895C= (p.Arg299=)
| |
| 19 | g.35849093G>T | CA405406863 | NPHS1 | c.895C>A (p.Arg299Ser)
| gnomAD v4 |
| 19 | g.35849094G>A | CA507314460 | NPHS1 | c.894C>T (p.Ala298=)
| ClinVar |
| 19 | g.35849094G>C | CA507314461 | NPHS1 | c.894C>G (p.Ala298=)
| |
| 19 | g.35849094G>T | CA507314462 | NPHS1 | c.894C>A (p.Ala298=)
| |
| 19 | g.35849095G>A | CA405406866 | NPHS1 | c.893C>T (p.Ala298Val)
| |
| 19 | g.35849095G>C | CA405406865 | NPHS1 | c.893C>G (p.Ala298Gly)
| |
| 19 | g.35849095G>T | CA405406864 | NPHS1 | c.893C>A (p.Ala298Asp)
| gnomAD v4 |
| 19 | g.35849096C>A | CA405406867 | NPHS1 | c.892G>T (p.Ala298Ser)
| |
| 19 | g.35849096C= | CA2333850725 | NPHS1 | c.892G= (p.Ala298=)
| |
| 19 | g.35849096C>G | CA405406869 | NPHS1 | c.892G>C (p.Ala298Pro)
| |
| 19 | g.35849096C>T | CA405406868 | NPHS1 | c.892G>A (p.Ala298Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849097C>A | CA507314464 | NPHS1 | c.891G>T (p.Val297=)
| |
| 19 | g.35849097C>G | CA507314465 | NPHS1 | c.891G>C (p.Val297=)
| |
| 19 | g.35849097C>T | CA507314466 | NPHS1 | c.891G>A (p.Val297=)
| |
| 19 | g.35849098A>C | CA405406870 | NPHS1 | c.890T>G (p.Val297Gly)
| gnomAD v4 |
| 19 | g.35849098A>G | CA405406872 | NPHS1 | c.890T>C (p.Val297Ala)
| gnomAD v4 |
| 19 | g.35849098A>T | CA405406871 | NPHS1 | c.890T>A (p.Val297Glu)
| |
| 19 | g.35849099C>A | CA405406873 | NPHS1 | c.889G>T (p.Val297Leu)
| |
| 19 | g.35849099C>G | CA405406874 | NPHS1 | c.889G>C (p.Val297Leu)
| |
| 19 | g.35849099C>T | CA405406875 | NPHS1 | c.889G>A (p.Val297Met)
| |
| 19 | g.35849100C>A | CA507314468 | NPHS1 | c.888G>T (p.Ala296=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849100C= | CA2333850726 | NPHS1 | c.888G= (p.Ala296=)
| |
| 19 | g.35849100C>G | CA507314469 | NPHS1 | c.888G>C (p.Ala296=)
| |
| 19 | g.35849100C>T | CA9390607 | NPHS1 | c.888G>A (p.Ala296=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
