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 |
19 | g.35849101G>A | CA9390608 | NPHS1 | c.887C>T (p.Ala296Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849101G>C | CA405406876 | NPHS1 | c.887C>G (p.Ala296Gly)
| |
19 | g.35849101G= | CA2333850727 | NPHS1 | c.887C= (p.Ala296=)
| |
19 | g.35849101G>T | CA405406877 | NPHS1 | c.887C>A (p.Ala296Glu)
| gnomAD v4 |
19 | g.35849102C>A | CA405406878 | NPHS1 | c.886G>T (p.Ala296Ser)
| |
19 | g.35849102C= | CA2333850728 | NPHS1 | c.886G= (p.Ala296=)
| |
19 | g.35849102C>G | CA405406879 | NPHS1 | c.886G>C (p.Ala296Pro)
| |
19 | g.35849102C>T | CA250277 | NPHS1 | c.886G>A (p.Ala296Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35849103C>A | CA405406880 | NPHS1 | c.885G>T (p.Gln295His)
| |
19 | g.35849103C>G | CA405406881 | NPHS1 | c.885G>C (p.Gln295His)
| |
19 | g.35849103C>T | CA507314473 | NPHS1 | c.885G>A (p.Gln295=)
| |
19 | g.35849104T>A | CA405406884 | NPHS1 | c.884A>T (p.Gln295Leu)
| |
19 | g.35849104T>C | CA405406882 | NPHS1 | c.884A>G (p.Gln295Arg)
| |
19 | g.35849104T>G | CA405406883 | NPHS1 | c.884A>C (p.Gln295Pro)
| |
19 | g.35849105G>A | CA405406885 | NPHS1 | c.883C>T (p.Gln295Ter)
| |
19 | g.35849105G>C | CA405406886 | NPHS1 | c.883C>G (p.Gln295Glu)
| |
19 | g.35849105G>T | CA405406887 | NPHS1 | c.883C>A (p.Gln295Lys)
| |
19 | g.35849106G>A | CA507314476 | NPHS1 | c.882C>T (p.Thr294=)
| dbSNP |
19 | g.35849106G>C | CA507314477 | NPHS1 | c.882C>G (p.Thr294=)
| |
19 | g.35849106G= | CA2333850729 | NPHS1 | c.882C= (p.Thr294=)
| |
19 | g.35849106G>T | CA507314478 | NPHS1 | c.882C>A (p.Thr294=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849107G>A | CA9390609 | NPHS1 | c.881C>T (p.Thr294Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849107G>C | CA405406888 | NPHS1 | c.881C>G (p.Thr294Ser)
| |
19 | g.35849107G= | CA2333850730 | NPHS1 | c.881C= (p.Thr294=)
| |
19 | g.35849107G>T | CA405406889 | NPHS1 | c.881C>A (p.Thr294Asn)
| gnomAD v4 |
19 | g.35849108T>A | CA405406890 | NPHS1 | c.880A>T (p.Thr294Ser)
| |
19 | g.35849108T>C | CA405406891 | NPHS1 | c.880A>G (p.Thr294Ala)
| |
19 | g.35849108T>G | CA405406892 | NPHS1 | c.880A>C (p.Thr294Pro)
| |
19 | g.35849109G>A | CA507314482 | NPHS1 | c.879C>T (p.His293=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849109G>C | CA405406893 | NPHS1 | c.879C>G (p.His293Gln)
| |
19 | g.35849109G= | CA2333850731 | NPHS1 | c.879C= (p.His293=)
| |
19 | g.35849109G>T | CA405406894 | NPHS1 | c.879C>A (p.His293Gln)
| |
19 | g.35849110T>A | CA405406896 | NPHS1 | c.878A>T (p.His293Leu)
| |
19 | g.35849110T>C | CA9390610 | NPHS1 | c.878A>G (p.His293Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849110T>G | CA405406895 | NPHS1 | c.878A>C (p.His293Pro)
| |
19 | g.35849110T= | CA2333850732 | NPHS1 | c.878A= (p.His293=)
| |
19 | g.35849111G>A | CA405406899 | NPHS1 | c.877C>T (p.His293Tyr)
| |
19 | g.35849111G>C | CA405406897 | NPHS1 | c.877C>G (p.His293Asp)
| |
19 | g.35849111G>T | CA405406898 | NPHS1 | c.877C>A (p.His293Asn)
| |
19 | g.35849111dup | CA2580096885 | NPHS1 | c.877dup (p.His293ProfsTer?)
| ClinVar |
19 | g.35849112C>A | CA405406900 | NPHS1 | c.876G>T (p.Glu292Asp)
| |
19 | g.35849112C>G | CA405406901 | NPHS1 | c.876G>C (p.Glu292Asp)
| |
19 | g.35849112C>T | CA507314486 | NPHS1 | c.876G>A (p.Glu292=)
| gnomAD v4 COSMIC |
19 | g.35849113T>A | CA405406902 | NPHS1 | c.875A>T (p.Glu292Val)
| |
19 | g.35849113T>C | CA405406903 | NPHS1 | c.875A>G (p.Glu292Gly)
| |
19 | g.35849113T>G | CA405406904 | NPHS1 | c.875A>C (p.Glu292Ala)
| |
19 | g.35849114C>A | CA405406905 | NPHS1 | c.874G>T (p.Glu292Ter)
| |
19 | g.35849114C>G | CA405406906 | NPHS1 | c.874G>C (p.Glu292Gln)
| |
19 | g.35849114C>T | CA405406907 | NPHS1 | c.874G>A (p.Glu292Lys)
| |
19 | g.35849115T>A | CA507314492 | NPHS1 | c.873A>T (p.Thr291=)
| gnomAD v4 |
19 | g.35849115T>C | CA507314491 | NPHS1 | c.873A>G (p.Thr291=)
| |
19 | g.35849115T>G | CA507314493 | NPHS1 | c.873A>C (p.Thr291=)
| |
19 | g.35849116G>A | CA405406908 | NPHS1 | c.872C>T (p.Thr291Ile)
| dbSNP gnomAD v2 |
19 | g.35849116G>C | CA405406909 | NPHS1 | c.872C>G (p.Thr291Arg)
| gnomAD v4 |
19 | g.35849116G= | CA2333850733 | NPHS1 | c.872C= (p.Thr291=)
| |
19 | g.35849116G>T | CA405406910 | NPHS1 | c.872C>A (p.Thr291Lys)
| |
19 | g.35849117T>A | CA405406913 | NPHS1 | c.871A>T (p.Thr291Ser)
| |
19 | g.35849117T>C | CA405406911 | NPHS1 | c.871A>G (p.Thr291Ala)
| |
19 | g.35849117T>G | CA405406912 | NPHS1 | c.871A>C (p.Thr291Pro)
| |
19 | g.35849118G>A | CA507314494 | NPHS1 | c.870C>T (p.Gly290=)
| |
19 | g.35849118G>C | CA507314495 | NPHS1 | c.870C>G (p.Gly290=)
| |
19 | g.35849118G>T | CA507314496 | NPHS1 | c.870C>A (p.Gly290=)
| |
19 | g.35849119C>A | CA405406914 | NPHS1 | c.869G>T (p.Gly290Val)
| |
19 | g.35849119C= | CA2333850734 | NPHS1 | c.869G= (p.Gly290=)
| |
19 | g.35849119C>G | CA405406915 | NPHS1 | c.869G>C (p.Gly290Ala)
| |
19 | g.35849119C>T | CA405406916 | NPHS1 | c.869G>A (p.Gly290Asp)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849122dup | CA2695228643 | NPHS1 | c.869dup (p.Thr291HisfsTer?)
| |
19 | g.35849122del | CA2573156262 | NPHS1 | c.869del (p.Gly290AlafsTer14)
| ClinVar dbSNP |
19 | g.35849120C>A | CA405406917 | NPHS1 | c.868G>T (p.Gly290Cys)
| |
19 | g.35849120C>G | CA405406918 | NPHS1 | c.868G>C (p.Gly290Arg)
| |
19 | g.35849120C>T | CA405406919 | NPHS1 | c.868G>A (p.Gly290Ser)
| gnomAD v4 |
19 | g.35849121C>A | CA405406920 | NPHS1 | c.867G>T (p.Trp289Cys)
| |
19 | g.35849121C>G | CA405406921 | NPHS1 | c.867G>C (p.Trp289Cys)
| |
19 | g.35849121C>T | CA405406922 | NPHS1 | c.867G>A (p.Trp289Ter)
| |
19 | g.35849122C>A | CA405406923 | NPHS1 | c.866G>T (p.Trp289Leu)
| |
19 | g.35849122C= | CA2333850735 | NPHS1 | c.866G= (p.Trp289=)
| |
19 | g.35849122C>G | CA405406924 | NPHS1 | c.866G>C (p.Trp289Ser)
| |
19 | g.35849122C>T | CA9390611 | NPHS1 | c.866G>A (p.Trp289Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849123A= | CA2333850736 | NPHS1 | c.865T= (p.Trp289=)
| |
19 | g.35849123A>C | CA405406926 | NPHS1 | c.865T>G (p.Trp289Gly)
| |
19 | g.35849123A>G | CA405406927 | NPHS1 | c.865T>C (p.Trp289Arg)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849123A>T | CA405406925 | NPHS1 | c.865T>A (p.Trp289Arg)
| |
19 | g.35849124C>A | CA507314498 | NPHS1 | c.864G>T (p.Ala288=)
| |
19 | g.35849124C= | CA2333850737 | NPHS1 | c.864G= (p.Ala288=)
| |
19 | g.35849124C>G | CA507314499 | NPHS1 | c.864G>C (p.Ala288=)
| ClinVar dbSNP |
19 | g.35849124C>T | CA9390612 | NPHS1 | c.864G>A (p.Ala288=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849125G>A | CA9390613 | NPHS1 | c.863C>T (p.Ala288Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35849125G>C | CA405406928 | NPHS1 | c.863C>G (p.Ala288Gly)
| |
19 | g.35849125G= | CA2333850738 | NPHS1 | c.863C= (p.Ala288=)
| |
19 | g.35849125G>T | CA405406929 | NPHS1 | c.863C>A (p.Ala288Glu)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849126C>A | CA405406930 | NPHS1 | c.862G>T (p.Ala288Ser)
| |
19 | g.35849126C>G | CA405406931 | NPHS1 | c.862G>C (p.Ala288Pro)
| |
19 | g.35849126C>T | CA405406932 | NPHS1 | c.862G>A (p.Ala288Thr)
| gnomAD v4 |
19 | g.35849127T>A | CA507314501 | NPHS1 | c.861A>T (p.Thr287=)
| |
19 | g.35849127T>C | CA507314502 | NPHS1 | c.861A>G (p.Thr287=)
| |
19 | g.35849127T>G | CA507314503 | NPHS1 | c.861A>C (p.Thr287=)
| |
19 | g.35849128G>A | CA405406933 | NPHS1 | c.860C>T (p.Thr287Ile)
| dbSNP |
19 | g.35849128G>C | CA405406934 | NPHS1 | c.860C>G (p.Thr287Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849128G= | CA2333850739 | NPHS1 | c.860C= (p.Thr287=)
| |
19 | g.35849128G>T | CA405406935 | NPHS1 | c.860C>A (p.Thr287Lys)
| |
19 | g.35849129T>A | CA405406936 | NPHS1 | c.859A>T (p.Thr287Ser)
| |
19 | g.35849129T>C | CA405406937 | NPHS1 | c.859A>G (p.Thr287Ala)
| |
19 | g.35849129T>G | CA405406938 | NPHS1 | c.859A>C (p.Thr287Pro)
| |
19 | g.35849130G>A | CA507314507 | NPHS1 | c.858C>T (p.Ser286=)
| gnomAD v4 |
19 | g.35849130G>C | CA507314508 | NPHS1 | c.858C>G (p.Ser286=)
| |
19 | g.35849130G>T | CA507314509 | NPHS1 | c.858C>A (p.Ser286=)
| |
19 | g.35849131G>A | CA405406941 | NPHS1 | c.857C>T (p.Ser286Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849131G>C | CA405406939 | NPHS1 | c.857C>G (p.Ser286Cys)
| |
19 | g.35849131G= | CA2333850740 | NPHS1 | c.857C= (p.Ser286=)
| |
19 | g.35849131G>T | CA405406940 | NPHS1 | c.857C>A (p.Ser286Tyr)
| |
19 | g.35849132A= | CA2333850741 | NPHS1 | c.856T= (p.Ser286=)
| |
19 | g.35849132A>C | CA405406942 | NPHS1 | c.856T>G (p.Ser286Ala)
| |
19 | g.35849132A>G | CA405406943 | NPHS1 | c.856T>C (p.Ser286Pro)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849132A>T | CA405406944 | NPHS1 | c.856T>A (p.Ser286Thr)
| |
19 | g.35849133C>A | CA507314514 | NPHS1 | c.855G>T (p.Val285=)
| |
19 | g.35849133C= | CA2333850742 | NPHS1 | c.855G= (p.Val285=)
| |
19 | g.35849133C>G | CA507314515 | NPHS1 | c.855G>C (p.Val285=)
| |
19 | g.35849133C>T | CA9390614 | NPHS1 | c.855G>A (p.Val285=)
| dbSNP ExAC gnomAD v2 COSMIC |
19 | g.35849134A>C | CA405406946 | NPHS1 | c.854T>G (p.Val285Gly)
| |
19 | g.35849134A>G | CA405406947 | NPHS1 | c.854T>C (p.Val285Ala)
| |
19 | g.35849134A>T | CA405406948 | NPHS1 | c.854T>A (p.Val285Glu)
| |
19 | g.35849135C>A | CA405406949 | NPHS1 | c.853G>T (p.Val285Leu)
| |
19 | g.35849135C>G | CA405406950 | NPHS1 | c.853G>C (p.Val285Leu)
| |
19 | g.35849135C>T | CA405406951 | NPHS1 | c.853G>A (p.Val285Met)
| |
19 | g.35849136C>A | CA507314519 | NPHS1 | c.852G>T (p.Pro284=)
| |
19 | g.35849136C= | CA2333850743 | NPHS1 | c.852G= (p.Pro284=)
| |
19 | g.35849136C>G | CA507314520 | NPHS1 | c.852G>C (p.Pro284=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849136C>T | CA9390615 | NPHS1 | c.852G>A (p.Pro284=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35849136_35849137del | CA913015891 | NPHS1 | c.851_852del (p.Pro284ArgfsTer?)
| |
19 | g.35849136_35849137delinsCG | CA2333850744 | NPHS1 | c.851_852delinsCG (p.Pro284=)
| |
19 | g.35849137G>A | CA9390616 | NPHS1 | c.851C>T (p.Pro284Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849137G>C | CA405406953 | NPHS1 | c.851C>G (p.Pro284Arg)
| |
19 | g.35849137G= | CA2333850745 | NPHS1 | c.851C= (p.Pro284=)
| |
19 | g.35849137G>T | CA405406952 | NPHS1 | c.851C>A (p.Pro284Gln)
| gnomAD v4 |
19 | g.35849138del | CA658823766 | NPHS1 | c.851del (p.Pro284ArgfsTer20)
| ClinVar dbSNP |
19 | g.35849138G>A | CA405406954 | NPHS1 | c.850C>T (p.Pro284Ser)
| gnomAD v4 COSMIC |
19 | g.35849138G>C | CA405406955 | NPHS1 | c.850C>G (p.Pro284Ala)
| gnomAD v4 |
19 | g.35849138G>T | CA405406956 | NPHS1 | c.850C>A (p.Pro284Thr)
| gnomAD v4 |
19 | g.35849139C>A | CA405406957 | NPHS1 | c.849G>T (p.Gln283His)
| |
19 | g.35849139C>G | CA405406958 | NPHS1 | c.849G>C (p.Gln283His)
| |
19 | g.35849139C>T | CA507314521 | NPHS1 | c.849G>A (p.Gln283=)
| |
19 | g.35849140T>A | CA405406961 | NPHS1 | c.848A>T (p.Gln283Leu)
| |
19 | g.35849140T>C | CA405406960 | NPHS1 | c.848A>G (p.Gln283Arg)
| |
19 | g.35849140T>G | CA405406959 | NPHS1 | c.848A>C (p.Gln283Pro)
| |
19 | g.35849141G>A | CA405406962 | NPHS1 | c.847C>T (p.Gln283Ter)
| ClinVar gnomAD v4 |
19 | g.35849141G>C | CA405406963 | NPHS1 | c.847C>G (p.Gln283Glu)
| |
19 | g.35849141G>T | CA405406964 | NPHS1 | c.847C>A (p.Gln283Lys)
| |
19 | g.35849142G>A | CA507314525 | NPHS1 | c.846C>T (p.Gly282=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849142G>C | CA507314528 | NPHS1 | c.846C>G (p.Gly282=)
| dbSNP |
19 | g.35849142G= | CA2333850746 | NPHS1 | c.846C= (p.Gly282=)
| |
19 | g.35849142G>T | CA507314526 | NPHS1 | c.846C>A (p.Gly282=)
| gnomAD v4 |
19 | g.35849143C>A | CA405406965 | NPHS1 | c.845G>T (p.Gly282Val)
| |
19 | g.35849143C>G | CA405406966 | NPHS1 | c.845G>C (p.Gly282Ala)
| |
19 | g.35849143C>T | CA405406967 | NPHS1 | c.845G>A (p.Gly282Asp)
| gnomAD v4 |
19 | g.35849144C>A | CA405406968 | NPHS1 | c.844G>T (p.Gly282Cys)
| gnomAD v4 |
19 | g.35849144C>G | CA405406970 | NPHS1 | c.844G>C (p.Gly282Arg)
| |
19 | g.35849144C>T | CA405406969 | NPHS1 | c.844G>A (p.Gly282Ser)
| |
19 | g.35849145A>C | CA405406971 | NPHS1 | c.843T>G (p.Asn281Lys)
| |
19 | g.35849145A>G | CA507314530 | NPHS1 | c.843T>C (p.Asn281=)
| ClinVar |
19 | g.35849145A>T | CA405406972 | NPHS1 | c.843T>A (p.Asn281Lys)
| |
19 | g.35849146T>A | CA405406973 | NPHS1 | c.842A>T (p.Asn281Ile)
| |
19 | g.35849146T>C | CA9390617 | NPHS1 | c.842A>G (p.Asn281Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849146T>G | CA405406974 | NPHS1 | c.842A>C (p.Asn281Thr)
| |
19 | g.35849146T= | CA2333850747 | NPHS1 | c.842A= (p.Asn281=)
| |
19 | g.35849147T>A | CA405406975 | NPHS1 | c.841A>T (p.Asn281Tyr)
| |
19 | g.35849147T>C | CA405406976 | NPHS1 | c.841A>G (p.Asn281Asp)
| |
19 | g.35849147T>G | CA405406977 | NPHS1 | c.841A>C (p.Asn281His)
| |
19 | g.35849148C>A | CA405406978 | NPHS1 | c.841-1G>T (n.841-1G>T)
| |
19 | g.35849148C>G | CA405406979 | NPHS1 | c.841-1G>C (n.841-1G>C)
| |
19 | g.35849148C>T | CA405406980 | NPHS1 | c.841-1G>A (n.841-1G>A)
| |
19 | g.35849149T>A | CA405406983 | NPHS1 | c.841-2A>T (n.841-2A>T)
| |
19 | g.35849149T>C | CA405406982 | NPHS1 | c.841-2A>G (n.841-2A>G)
| gnomAD v4 |
19 | g.35849149T>G | CA405406981 | NPHS1 | c.841-2A>C (n.841-2A>C)
| ClinVar |
19 | g.35849150G>A | CA633061066 | NPHS1 | c.841-3C>T (n.841-3C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849150G= | CA2333850748 | NPHS1 | c.841-3C= (n.841-3C=)
| |
19 | g.35849150G>T | CA2584603890 | NPHS1 | c.841-3C>A (n.841-3C>A)
| gnomAD v4 |
19 | g.35849151G>A | CA645619648 | NPHS1 | c.841-4C>T (n.841-4C>T)
| gnomAD v4 COSMIC |
19 | g.35849151G>C | CA2333850750 | NPHS1 | c.841-4C>G (n.841-4C>G)
| dbSNP |
19 | g.35849151G= | CA2333850749 | NPHS1 | c.841-4C= (n.841-4C=)
| |
19 | g.35849151G>T | CA2584603891 | NPHS1 | c.841-4C>A (n.841-4C>A)
| gnomAD v4 |
19 | g.35849153G>A | CA2697556480 | NPHS1 | c.841-6C>T (n.841-6C>T)
| ClinVar |
19 | g.35849153G= | CA2333850751 | NPHS1 | c.841-6C= (n.841-6C=)
| |
19 | g.35849153G>T | CA2333850752 | NPHS1 | c.841-6C>A (n.841-6C>A)
| ClinVar dbSNP |
19 | g.35849154A>T | CA2584603892 | NPHS1 | c.841-7T>A (n.841-7T>A)
| gnomAD v4 |
19 | g.35849155C>A | CA9390618 | NPHS1 | c.841-8G>T (n.841-8G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849155C= | CA2333850753 | NPHS1 | c.841-8G= (n.841-8G=)
| |
19 | g.35849155C>G | CA2584603893 | NPHS1 | c.841-8G>C (n.841-8G>C)
| gnomAD v4 |
19 | g.35849156A= | CA2333850754 | NPHS1 | c.841-9T= (n.841-9T=)
| |
19 | g.35849156A>G | CA9390619 | NPHS1 | c.841-9T>C (n.841-9T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849157G>T | CA2584603894 | NPHS1 | c.841-10C>A (n.841-10C>A)
| gnomAD v4 |
19 | g.35849158G>A | CA2735908818 | NPHS1 | c.841-11C>T (n.841-11C>T)
| dbSNP |
19 | g.35849158G>C | CA2584603895 | NPHS1 | c.841-11C>G (n.841-11C>G)
| dbSNP gnomAD v4 |
19 | g.35849158G= | CA2333850755 | NPHS1 | c.841-11C= (n.841-11C=)
| |
19 | g.35849158G>T | CA633061067 | NPHS1 | c.841-11C>A (n.841-11C>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849159G>A | CA9390621 | NPHS1 | c.841-12C>T (n.841-12C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849159G>C | CA9390620 | NPHS1 | c.841-12C>G (n.841-12C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849159G= | CA2333850756 | NPHS1 | c.841-12C= (n.841-12C=)
| |