19 | g.35850957_35851031del | CA2584604388 | NPHS1 | c.456_526+4del
| gnomAD v4 |
19 | g.35850969_35850972delinsATGG | CA2333851598 | NPHS1 | c.515_518delinsCCAT (p.Thr172=)
| |
19 | g.35850972_35850974del | CA250247 | NPHS1 | c.515_517del (p.Thr172del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850972del | CA250250 | NPHS1 | c.516del (p.Ile173PhefsTer3)
| ClinVar dbSNP |
19 | g.35850972G>A | CA405409697 | NPHS1 | c.515C>T (p.Thr172Ile)
| |
19 | g.35850972G>C | CA405409698 | NPHS1 | c.515C>G (p.Thr172Ser)
| |
19 | g.35850972G= | CA2333851601 | NPHS1 | c.515C= (p.Thr172=)
| |
19 | g.35850972G>T | CA9390790 | NPHS1 | c.515C>A (p.Thr172Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35850973del | CA2695228648 | NPHS1 | c.514del (p.Thr172ProfsTer4)
| |
19 | g.35850973T>A | CA405409702 | NPHS1 | c.514A>T (p.Thr172Ser)
| |
19 | g.35850973T>C | CA405409705 | NPHS1 | c.514A>G (p.Thr172Ala)
| dbSNP gnomAD v2 |
19 | g.35850973T>G | CA405409708 | NPHS1 | c.514A>C (p.Thr172Pro)
| |
19 | g.35850973T= | CA2333851602 | NPHS1 | c.514A= (p.Thr172=)
| |
19 | g.35850974G>A | CA507085986 | NPHS1 | c.513C>T (p.Ile171=)
| COSMIC |
19 | g.35850974G>C | CA405409711 | NPHS1 | c.513C>G (p.Ile171Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850974G= | CA2333851603 | NPHS1 | c.513C= (p.Ile171=)
| |
19 | g.35850974G>T | CA507085985 | NPHS1 | c.513C>A (p.Ile171=)
| |
19 | g.35850975A= | CA2333851604 | NPHS1 | c.512T= (p.Ile171=)
| |
19 | g.35850975A>C | CA405409713 | NPHS1 | c.512T>G (p.Ile171Ser)
| |
19 | g.35850975A>G | CA405409716 | NPHS1 | c.512T>C (p.Ile171Thr)
| gnomAD v4 |
19 | g.35850975A>T | CA250245 | NPHS1 | c.512T>A (p.Ile171Asn)
| ClinVar dbSNP |
19 | g.35850976T>A | CA405409720 | NPHS1 | c.511A>T (p.Ile171Phe)
| |
19 | g.35850976T>C | CA405409722 | NPHS1 | c.511A>G (p.Ile171Val)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35850976T>G | CA405409725 | NPHS1 | c.511A>C (p.Ile171Leu)
| |
19 | g.35850976T= | CA2333851605 | NPHS1 | c.511A= (p.Ile171=)
| |
19 | g.35850977G>A | CA507085987 | NPHS1 | c.510C>T (p.Asp170=)
| gnomAD v4 |
19 | g.35850977G>C | CA405409727 | NPHS1 | c.510C>G (p.Asp170Glu)
| |
19 | g.35850977G>T | CA405409729 | NPHS1 | c.510C>A (p.Asp170Glu)
| |
19 | g.35850978T>A | CA405409733 | NPHS1 | c.509A>T (p.Asp170Val)
| |
19 | g.35850978T>C | CA405409736 | NPHS1 | c.509A>G (p.Asp170Gly)
| |
19 | g.35850978T>G | CA405409738 | NPHS1 | c.509A>C (p.Asp170Ala)
| |
19 | g.35850979del | CA2580096895 | NPHS1 | c.508del (p.Asp170ThrfsTer6)
| ClinVar |
19 | g.35850979C>A | CA405409742 | NPHS1 | c.508G>T (p.Asp170Tyr)
| gnomAD v4 |
19 | g.35850979C= | CA2333851606 | NPHS1 | c.508G= (p.Asp170=)
| |
19 | g.35850979C>G | CA405409744 | NPHS1 | c.508G>C (p.Asp170His)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35850979C>T | CA405409746 | NPHS1 | c.508G>A (p.Asp170Asn)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35850980A>C | CA507085988 | NPHS1 | c.507T>G (p.Pro169=)
| |
19 | g.35850980A>G | CA507085989 | NPHS1 | c.507T>C (p.Pro169=)
| ClinVar dbSNP |
19 | g.35850980A>T | CA507085990 | NPHS1 | c.507T>A (p.Pro169=)
| gnomAD v4 |
19 | g.35850981G>A | CA405409753 | NPHS1 | c.506C>T (p.Pro169Leu)
| |
19 | g.35850981G>C | CA405409756 | NPHS1 | c.506C>G (p.Pro169Arg)
| |
19 | g.35850981G>T | CA405409751 | NPHS1 | c.506C>A (p.Pro169His)
| |
19 | g.35850982G>A | CA405409759 | NPHS1 | c.505C>T (p.Pro169Ser)
| dbSNP gnomAD v4 |
19 | g.35850982G>C | CA405409763 | NPHS1 | c.505C>G (p.Pro169Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850982G= | CA2333851607 | NPHS1 | c.505C= (p.Pro169=)
| |
19 | g.35850982G>T | CA10652380 | NPHS1 | c.505C>A (p.Pro169Thr)
| ClinVar dbSNP gnomAD v4 |
19 | g.35850983T>A | CA507085991 | NPHS1 | c.504A>T (p.Ala168=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35850983T>C | CA507085992 | NPHS1 | c.504A>G (p.Ala168=)
| gnomAD v4 |
19 | g.35850983T>G | CA507085993 | NPHS1 | c.504A>C (p.Ala168=)
| gnomAD v4 |
19 | g.35850983T= | CA2333851608 | NPHS1 | c.504A= (p.Ala168=)
| |
19 | g.35850984G>A | CA405409765 | NPHS1 | c.503C>T (p.Ala168Val)
| |
19 | g.35850984G>C | CA405409766 | NPHS1 | c.503C>G (p.Ala168Gly)
| |
19 | g.35850984G= | CA2333851609 | NPHS1 | c.503C= (p.Ala168=)
| |
19 | g.35850984G>T | CA9390791 | NPHS1 | c.503C>A (p.Ala168Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35850985del | CA2584604391 | NPHS1 | c.502del (p.Ala168HisfsTer8)
| gnomAD v4 |
19 | g.35850985C>A | CA405409774 | NPHS1 | c.502G>T (p.Ala168Ser)
| |
19 | g.35850985C>G | CA405409776 | NPHS1 | c.502G>C (p.Ala168Pro)
| |
19 | g.35850985C>T | CA405409779 | NPHS1 | c.502G>A (p.Ala168Thr)
| |
19 | g.35850986T>A | CA507086006 | NPHS1 | c.501A>T (p.Pro167=)
| |
19 | g.35850986T>C | CA507086007 | NPHS1 | c.501A>G (p.Pro167=)
| ClinVar |
19 | g.35850986T>G | CA507086009 | NPHS1 | c.501A>C (p.Pro167=)
| |
19 | g.35850987G>A | CA250243 | NPHS1 | c.500C>T (p.Pro167Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35850987G>C | CA405409784 | NPHS1 | c.500C>G (p.Pro167Arg)
| |
19 | g.35850987G= | CA2333851610 | NPHS1 | c.500C= (p.Pro167=)
| |
19 | g.35850987G>T | CA405409786 | NPHS1 | c.500C>A (p.Pro167Gln)
| |
19 | g.35850988G>A | CA405409790 | NPHS1 | c.499C>T (p.Pro167Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35850988G>C | CA405409793 | NPHS1 | c.499C>G (p.Pro167Ala)
| |
19 | g.35850988G= | CA2333851611 | NPHS1 | c.499C= (p.Pro167=)
| |
19 | g.35850988G>T | CA405409796 | NPHS1 | c.499C>A (p.Pro167Thr)
| |
19 | g.35850989C>A | CA405409798 | NPHS1 | c.498G>T (p.Lys166Asn)
| gnomAD v4 |
19 | g.35850989C= | CA2333851612 | NPHS1 | c.498G= (p.Lys166=)
| |
19 | g.35850989C>G | CA405409800 | NPHS1 | c.498G>C (p.Lys166Asn)
| |
19 | g.35850989C>T | CA507086020 | NPHS1 | c.498G>A (p.Lys166=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35850990T>A | CA405409803 | NPHS1 | c.497A>T (p.Lys166Met)
| |
19 | g.35850990T>C | CA405409804 | NPHS1 | c.497A>G (p.Lys166Arg)
| |
19 | g.35850990T>G | CA405409806 | NPHS1 | c.497A>C (p.Lys166Thr)
| |
19 | g.35850990_35850991insC | CA2584604392 | NPHS1 | c.496_497insG (p.Lys166ArgfsTer5)
| gnomAD v4 |
19 | g.35850991T>A | CA405409809 | NPHS1 | c.496A>T (p.Lys166Ter)
| |
19 | g.35850991T>C | CA405409810 | NPHS1 | c.496A>G (p.Lys166Glu)
| |
19 | g.35850991T>G | CA405409812 | NPHS1 | c.496A>C (p.Lys166Gln)
| |
19 | g.35850992C>A | CA507086030 | NPHS1 | c.495G>T (p.Ala165=)
| |
19 | g.35850992C= | CA2333851613 | NPHS1 | c.495G= (p.Ala165=)
| |
19 | g.35850992C>G | CA507086032 | NPHS1 | c.495G>C (p.Ala165=)
| |
19 | g.35850992C>T | CA9390792 | NPHS1 | c.495G>A (p.Ala165=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850993G>A | CA9390793 | NPHS1 | c.494C>T (p.Ala165Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850993G>C | CA405409818 | NPHS1 | c.494C>G (p.Ala165Gly)
| |
19 | g.35850993G= | CA2333851614 | NPHS1 | c.494C= (p.Ala165=)
| |
19 | g.35850993G>T | CA405409819 | NPHS1 | c.494C>A (p.Ala165Glu)
| |
19 | g.35850993_35850994insGT | CA2584604393 | NPHS1 | c.493_494insAC (p.Ala165AspfsTer12)
| gnomAD v4 |
19 | g.35850994C>A | CA405409823 | NPHS1 | c.493G>T (p.Ala165Ser)
| |
19 | g.35850994C= | CA2333851615 | NPHS1 | c.493G= (p.Ala165=)
| |
19 | g.35850994C>G | CA405409825 | NPHS1 | c.493G>C (p.Ala165Pro)
| gnomAD v4 |
19 | g.35850994C>T | CA9390794 | NPHS1 | c.493G>A (p.Ala165Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850995G>A | CA9390795 | NPHS1 | c.492C>T (p.Asp164=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850995G>C | CA405409831 | NPHS1 | c.492C>G (p.Asp164Glu)
| |
19 | g.35850995G= | CA2333851616 | NPHS1 | c.492C= (p.Asp164=)
| |
19 | g.35850995G>T | CA405409829 | NPHS1 | c.492C>A (p.Asp164Glu)
| |
19 | g.35850996T>A | CA405409834 | NPHS1 | c.491A>T (p.Asp164Val)
| gnomAD v4 |
19 | g.35850996T>C | CA405409837 | NPHS1 | c.491A>G (p.Asp164Gly)
| |
19 | g.35850996T>G | CA405409839 | NPHS1 | c.491A>C (p.Asp164Ala)
| |
19 | g.35850997C>A | CA405409842 | NPHS1 | c.490G>T (p.Asp164Tyr)
| |
19 | g.35850997C>G | CA405409845 | NPHS1 | c.490G>C (p.Asp164His)
| |
19 | g.35850997C>T | CA405409848 | NPHS1 | c.490G>A (p.Asp164Asn)
| |
19 | g.35851000del | CA2695198182 | NPHS1 | c.490del (p.Asp164ThrfsTer12)
| ClinVar |
19 | g.35850998C>A | CA507086051 | NPHS1 | c.489G>T (p.Gly163=)
| |
19 | g.35850998C>G | CA507086053 | NPHS1 | c.489G>C (p.Gly163=)
| gnomAD v4 |
19 | g.35850998C>T | CA507086055 | NPHS1 | c.489G>A (p.Gly163=)
| ClinVar |
19 | g.35850999C>A | CA405409850 | NPHS1 | c.488G>T (p.Gly163Val)
| |
19 | g.35850999C>G | CA405409853 | NPHS1 | c.488G>C (p.Gly163Ala)
| |
19 | g.35850999C>T | CA405409856 | NPHS1 | c.488G>A (p.Gly163Glu)
| |
19 | g.35851000C>A | CA405409859 | NPHS1 | c.487G>T (p.Gly163Trp)
| |
19 | g.35851000C>G | CA405409862 | NPHS1 | c.487G>C (p.Gly163Arg)
| |
19 | g.35851000C>T | CA405409864 | NPHS1 | c.487G>A (p.Gly163Arg)
| |
19 | g.35851001A= | CA2333851617 | NPHS1 | c.486T= (p.Ser162=)
| |
19 | g.35851001A>C | CA507086063 | NPHS1 | c.486T>G (p.Ser162=)
| |
19 | g.35851001A>G | CA507086065 | NPHS1 | c.486T>C (p.Ser162=)
| |
19 | g.35851001A>T | CA307790210 | NPHS1 | c.486T>A (p.Ser162=)
| dbSNP |
19 | g.35851001_35851009del | CA2584604394 | NPHS1 | c.478_486del (p.Cys160_Ser162del)
| gnomAD v4 |
19 | g.35851002G>A | CA405409874 | NPHS1 | c.485C>T (p.Ser162Phe)
| COSMIC |
19 | g.35851002G>C | CA9390796 | NPHS1 | c.485C>G (p.Ser162Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35851002G= | CA2333851618 | NPHS1 | c.485C= (p.Ser162=)
| |
19 | g.35851002G>T | CA405409871 | NPHS1 | c.485C>A (p.Ser162Tyr)
| |
19 | g.35851003A= | CA2333851619 | NPHS1 | c.484T= (p.Ser162=)
| |
19 | g.35851003A>C | CA405409878 | NPHS1 | c.484T>G (p.Ser162Ala)
| |
19 | g.35851003A>G | CA9390797 | NPHS1 | c.484T>C (p.Ser162Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851003A>T | CA307790226 | NPHS1 | c.484T>A (p.Ser162Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851008_35851009del | CA2580612605 | NPHS1 | c.483_484del (p.Ser162TrpfsTer8)
| ClinVar |
19 | g.35851004C>A | CA507086079 | NPHS1 | c.483G>T (p.Val161=)
| gnomAD v4 |
19 | g.35851004C>G | CA507086083 | NPHS1 | c.483G>C (p.Val161=)
| |
19 | g.35851004C>T | CA507086081 | NPHS1 | c.483G>A (p.Val161=)
| |
19 | g.35851005A= | CA2333851620 | NPHS1 | c.482T= (p.Val161=)
| |
19 | g.35851005A>C | CA405409883 | NPHS1 | c.482T>G (p.Val161Gly)
| |
19 | g.35851005A>G | CA405409886 | NPHS1 | c.482T>C (p.Val161Ala)
| dbSNP gnomAD v4 |
19 | g.35851005A>T | CA405409889 | NPHS1 | c.482T>A (p.Val161Glu)
| dbSNP |
19 | g.35851008_35851009insCCAACAC | CA2814252844 | NPHS1 | c.482_483insTGGGTGT (p.Ser162GlyfsTer11)
| |
19 | g.35851006C>A | CA405409893 | NPHS1 | c.481G>T (p.Val161Leu)
| gnomAD v4 |
19 | g.35851006C>G | CA405409895 | NPHS1 | c.481G>C (p.Val161Leu)
| gnomAD v4 |
19 | g.35851006C>T | CA405409898 | NPHS1 | c.481G>A (p.Val161Met)
| |
19 | g.35851007A>C | CA405409901 | NPHS1 | c.480T>G (p.Cys160Trp)
| |
19 | g.35851007A>G | CA507086093 | NPHS1 | c.480T>C (p.Cys160=)
| |
19 | g.35851007A>T | CA405409902 | NPHS1 | c.480T>A (p.Cys160Ter)
| |
19 | g.35851007dup | CA2584604395 | NPHS1 | c.480dup (p.Val161CysfsTer10)
| gnomAD v4 |
19 | g.35851008C>A | CA405409906 | NPHS1 | c.479G>T (p.Cys160Phe)
| |
19 | g.35851008C= | CA2333851621 | NPHS1 | c.479G= (p.Cys160=)
| |
19 | g.35851008C>G | CA250240 | NPHS1 | c.479G>C (p.Cys160Ser)
| ClinVar dbSNP |
19 | g.35851008C>T | CA405409909 | NPHS1 | c.479G>A (p.Cys160Tyr)
| ClinVar dbSNP gnomAD v4 |
19 | g.35851009A>C | CA405409914 | NPHS1 | c.478T>G (p.Cys160Gly)
| |
19 | g.35851009A>G | CA405409919 | NPHS1 | c.478T>C (p.Cys160Arg)
| gnomAD v4 |
19 | g.35851009A>T | CA405409916 | NPHS1 | c.478T>A (p.Cys160Ser)
| gnomAD v4 |
19 | g.35851010G>A | CA9390798 | NPHS1 | c.477C>T (p.Asn159=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851010G>C | CA405409923 | NPHS1 | c.477C>G (p.Asn159Lys)
| |
19 | g.35851010G= | CA2333851622 | NPHS1 | c.477C= (p.Asn159=)
| |
19 | g.35851010G>T | CA405409925 | NPHS1 | c.477C>A (p.Asn159Lys)
| |
19 | g.35851011T>A | CA405409929 | NPHS1 | c.476A>T (p.Asn159Ile)
| dbSNP |
19 | g.35851011T>C | CA9390799 | NPHS1 | c.476A>G (p.Asn159Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851011T>G | CA405409932 | NPHS1 | c.476A>C (p.Asn159Thr)
| |
19 | g.35851011T= | CA2333851623 | NPHS1 | c.476A= (p.Asn159=)
| |
19 | g.35851012T>A | CA405409936 | NPHS1 | c.475A>T (p.Asn159Tyr)
| ClinVar dbSNP gnomAD v4 |
19 | g.35851012T>C | CA405409938 | NPHS1 | c.475A>G (p.Asn159Asp)
| |
19 | g.35851012T>G | CA405409940 | NPHS1 | c.475A>C (p.Asn159His)
| |
19 | g.35851012T= | CA2333851624 | NPHS1 | c.475A= (p.Asn159=)
| |
19 | g.35851012_35851013del | CA2584604396 | NPHS1 | c.474_475del (p.Asn159LeufsTer11)
| gnomAD v4 |
19 | g.35851013G>A | CA507086112 | NPHS1 | c.474C>T (p.Val158=)
| |
19 | g.35851013G>C | CA507086114 | NPHS1 | c.474C>G (p.Val158=)
| |
19 | g.35851013G>T | CA507086117 | NPHS1 | c.474C>A (p.Val158=)
| gnomAD v4 |
19 | g.35851014A>C | CA405409946 | NPHS1 | c.473T>G (p.Val158Gly)
| |
19 | g.35851014A>G | CA405409948 | NPHS1 | c.473T>C (p.Val158Ala)
| |
19 | g.35851014A>T | CA405409951 | NPHS1 | c.473T>A (p.Val158Asp)
| |
19 | g.35851015C>A | CA405409957 | NPHS1 | c.472G>T (p.Val158Phe)
| |
19 | g.35851015C= | CA2333851625 | NPHS1 | c.472G= (p.Val158=)
| |
19 | g.35851015C>G | CA405409953 | NPHS1 | c.472G>C (p.Val158Leu)
| |
19 | g.35851015C>T | CA307790233 | NPHS1 | c.472G>A (p.Val158Ile)
| dbSNP gnomAD v4 |
19 | g.35851015_35851016insTT | CA2517136596 | NPHS1 | c.471_472insAA (p.Val158LysfsTer19)
| |
19 | g.35851016C>A | CA507086126 | NPHS1 | c.471G>T (p.Val157=)
| ClinVar dbSNP |
19 | g.35851016C= | CA2333851626 | NPHS1 | c.471G= (p.Val157=)
| |
19 | g.35851016C>G | CA507086129 | NPHS1 | c.471G>C (p.Val157=)
| |
19 | g.35851016C>T | CA507086132 | NPHS1 | c.471G>A (p.Val157=)
| ClinVar dbSNP |
19 | g.35851017A= | CA2333851627 | NPHS1 | c.470T= (p.Val157=)
| |
19 | g.35851017A>C | CA405409961 | NPHS1 | c.470T>G (p.Val157Gly)
| |
19 | g.35851017A>G | CA9390800 | NPHS1 | c.470T>C (p.Val157Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35851017A>T | CA405409964 | NPHS1 | c.470T>A (p.Val157Glu)
| |
19 | g.35851018C>A | CA405409967 | NPHS1 | c.469G>T (p.Val157Leu)
| |
19 | g.35851018C= | CA2333851628 | NPHS1 | c.469G= (p.Val157=)
| |
19 | g.35851018C>G | CA405409969 | NPHS1 | c.469G>C (p.Val157Leu)
| dbSNP |
19 | g.35851018C>T | CA9390801 | NPHS1 | c.469G>A (p.Val157Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851018_35851019del | CA2549546144 | NPHS1 | c.468_469del (p.Val157GlyfsTer13)
| gnomAD v4 |
19 | g.35851019G>A | CA507086143 | NPHS1 | c.468C>T (p.Tyr156=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35851019G>C | CA250237 | NPHS1 | c.468C>G (p.Tyr156Ter)
| ClinVar dbSNP gnomAD v4 |
19 | g.35851019G= | CA2333851629 | NPHS1 | c.468C= (p.Tyr156=)
| |
19 | g.35851019G>T | CA405409975 | NPHS1 | c.468C>A (p.Tyr156Ter)
| |
19 | g.35851020T>A | CA405409979 | NPHS1 | c.467A>T (p.Tyr156Phe)
| |
19 | g.35851020T>C | CA405409982 | NPHS1 | c.467A>G (p.Tyr156Cys)
| |
19 | g.35851020T>G | CA405409984 | NPHS1 | c.467A>C (p.Tyr156Ser)
| |
19 | g.35851020_35851021insTAAAAAAAAAA | CA2584604397 | NPHS1 | c.466_467insTTTTTTTTTTA (p.Tyr156PhefsTer24)
| gnomAD v4 |
19 | g.35851021A>C | CA405409991 | NPHS1 | c.466T>G (p.Tyr156Asp)
| |
19 | g.35851021A>G | CA405409990 | NPHS1 | c.466T>C (p.Tyr156His)
| |
19 | g.35851021A>T | CA405409988 | NPHS1 | c.466T>A (p.Tyr156Asn)
| |
19 | g.35851021dup | CA2580617861 | NPHS1 | c.466dup (p.Tyr156LeufsTer15)
| ClinVar |
19 | g.35851022C>A | CA405409996 | NPHS1 | c.465G>T (p.Glu155Asp)
| |
19 | g.35851022C>G | CA405409994 | NPHS1 | c.465G>C (p.Glu155Asp)
| |
19 | g.35851022C>T | CA507086156 | NPHS1 | c.465G>A (p.Glu155=)
| |
19 | g.35851023T>A | CA405409999 | NPHS1 | c.464A>T (p.Glu155Val)
| gnomAD v4 |
19 | g.35851023T>C | CA405410000 | NPHS1 | c.464A>G (p.Glu155Gly)
| |
19 | g.35851023T>G | CA405410002 | NPHS1 | c.464A>C (p.Glu155Ala)
| |
19 | g.35851024C>A | CA405410004 | NPHS1 | c.463G>T (p.Glu155Ter)
| |
19 | g.35851024C>G | CA405410006 | NPHS1 | c.463G>C (p.Glu155Gln)
| gnomAD v4 |
19 | g.35851024C>T | CA405410009 | NPHS1 | c.463G>A (p.Glu155Lys)
| COSMIC |
19 | g.35851025C>A | CA405410010 | NPHS1 | c.462G>T (p.Gln154His)
| |
19 | g.35851025C= | CA2333851630 | NPHS1 | c.462G= (p.Gln154=)
| |
19 | g.35851025C>G | CA405410011 | NPHS1 | c.462G>C (p.Gln154His)
| |
19 | g.35851025C>T | CA9390802 | NPHS1 | c.462G>A (p.Gln154=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35851026T>A | CA405410014 | NPHS1 | c.461A>T (p.Gln154Leu)
| |
19 | g.35851026T>C | CA405410016 | NPHS1 | c.461A>G (p.Gln154Arg)
| |
19 | g.35851026T>G | CA405410017 | NPHS1 | c.461A>C (p.Gln154Pro)
| |
19 | g.35851026_35851027delinsTG | CA2333851631 | NPHS1 | c.460_461delinsCA (p.Gln154=)
| |
19 | g.35851027del | CA891863066 | NPHS1 | c.460del (p.Gln154ArgfsTer22)
| ClinVar dbSNP |
19 | g.35851027G>A | CA405410022 | NPHS1 | c.460C>T (p.Gln154Ter)
| |
19 | g.35851027G>C | CA405410020 | NPHS1 | c.460C>G (p.Gln154Glu)
| |
19 | g.35851027G= | CA2333851632 | NPHS1 | c.460C= (p.Gln154=)
| |
19 | g.35851027G>T | CA405410021 | NPHS1 | c.460C>A (p.Gln154Lys)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851028C>A | CA507086182 | NPHS1 | c.459G>T (p.Gly153=)
| |
19 | g.35851028C>G | CA507086180 | NPHS1 | c.459G>C (p.Gly153=)
| |
19 | g.35851028C>T | CA507086178 | NPHS1 | c.459G>A (p.Gly153=)
| |
19 | g.35851030del | CA2573156268 | NPHS1 | c.459del (p.Gln154ArgfsTer22)
| ClinVar dbSNP |
19 | g.35851029C>A | CA405410024 | NPHS1 | c.458G>T (p.Gly153Val)
| |
19 | g.35851029C>G | CA405410026 | NPHS1 | c.458G>C (p.Gly153Ala)
| |
19 | g.35851029C>T | CA405410027 | NPHS1 | c.458G>A (p.Gly153Glu)
| |
19 | g.35851030C>A | CA405410028 | NPHS1 | c.457G>T (p.Gly153Trp)
| |
19 | g.35851030C>G | CA405410031 | NPHS1 | c.457G>C (p.Gly153Arg)
| |
19 | g.35851030C>T | CA405410034 | NPHS1 | c.457G>A (p.Gly153Arg)
| COSMIC |
19 | g.35851030_35851031delinsCA | CA2333851633 | NPHS1 | c.456_457delinsTG (p.Ala152=)
| |
19 | g.35851031del | CA2333851634 | NPHS1 | c.456del (p.Gln154ArgfsTer22)
| ClinVar dbSNP |
19 | g.35851031A>C | CA507086191 | NPHS1 | c.456T>G (p.Ala152=)
| |
19 | g.35851031A>G | CA507086196 | NPHS1 | c.456T>C (p.Ala152=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35851031A>T | CA507086194 | NPHS1 | c.456T>A (p.Ala152=)
| |
19 | g.35851032G>A | CA405410037 | NPHS1 | c.455C>T (p.Ala152Val)
| gnomAD v4 |
19 | g.35851032G>C | CA405410038 | NPHS1 | c.455C>G (p.Ala152Gly)
| |
19 | g.35851032G>T | CA405410041 | NPHS1 | c.455C>A (p.Ala152Asp)
| |
19 | g.35851033C>A | CA405410046 | NPHS1 | c.454G>T (p.Ala152Ser)
| |
19 | g.35851033C= | CA2333851635 | NPHS1 | c.454G= (p.Ala152=)
| |
19 | g.35851033C>G | CA405410049 | NPHS1 | c.454G>C (p.Ala152Pro)
| |
19 | g.35851033C>T | CA405410052 | NPHS1 | c.454G>A (p.Ala152Thr)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35851033_35851043delinsGTGT | CA2695198183 | NPHS1 | c.444_454delinsACAC (p.Thr149HisfsTer25)
| ClinVar |
19 | g.35851034T>A | CA507086204 | NPHS1 | c.453A>T (p.Val151=)
| gnomAD v4 |
19 | g.35851034T>C | CA507086205 | NPHS1 | c.453A>G (p.Val151=)
| |
19 | g.35851034T>G | CA507086207 | NPHS1 | c.453A>C (p.Val151=)
| |
19 | g.35851034_35851043delinsTACCCAGGTG | CA2333851636 | NPHS1 | c.444_453delinsCACCTGGGTA (p.Val148=)
| |
19 | g.35851035A>C | CA405410060 | NPHS1 | c.452T>G (p.Val151Gly)
| |
19 | g.35851035A>G | CA405410063 | NPHS1 | c.452T>C (p.Val151Ala)
| |
19 | g.35851035A>T | CA405410056 | NPHS1 | c.452T>A (p.Val151Glu)
| |
19 | g.35851038_35851046del | CA891863067 | NPHS1 | c.444_452del (p.Thr149_Val151del)
| ClinVar dbSNP |
19 | g.35851036C>A | CA405410066 | NPHS1 | c.451G>T (p.Val151Leu)
| |
19 | g.35851036C= | CA2333851637 | NPHS1 | c.451G= (p.Val151=)
| |
19 | g.35851036C>G | CA405410069 | NPHS1 | c.451G>C (p.Val151Leu)
| |
19 | g.35851036C>T | CA405410068 | NPHS1 | c.451G>A (p.Val151Ile)
| ClinVar dbSNP |
19 | g.35851037C>A | CA405410074 | NPHS1 | c.450G>T (p.Trp150Cys)
| |
19 | g.35851037C>G | CA405410075 | NPHS1 | c.450G>C (p.Trp150Cys)
| |
19 | g.35851037C>T | CA405410077 | NPHS1 | c.450G>A (p.Trp150Ter)
| ClinVar dbSNP |
19 | g.35851038C>A | CA405410079 | NPHS1 | c.449G>T (p.Trp150Leu)
| |
19 | g.35851038C= | CA2333851638 | NPHS1 | c.449G= (p.Trp150=)
| |
19 | g.35851038C>G | CA405410082 | NPHS1 | c.449G>C (p.Trp150Ser)
| |
19 | g.35851038C>T | CA405410085 | NPHS1 | c.449G>A (p.Trp150Ter)
| dbSNP |
19 | g.35851039A>C | CA405410089 | NPHS1 | c.448T>G (p.Trp150Gly)
| |
19 | g.35851039A>G | CA405410091 | NPHS1 | c.448T>C (p.Trp150Arg)
| |
19 | g.35851039A>T | CA405410093 | NPHS1 | c.448T>A (p.Trp150Arg)
| |
19 | g.35851040G>A | CA507086234 | NPHS1 | c.447C>T (p.Thr149=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851040G>C | CA307790260 | NPHS1 | c.447C>G (p.Thr149=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35851040G= | CA2333851639 | NPHS1 | c.447C= (p.Thr149=)
| |
19 | g.35851040G>T | CA507086237 | NPHS1 | c.447C>A (p.Thr149=)
| COSMIC |
19 | g.35851044_35851052del | CA2584604398 | NPHS1 | c.439_447del (p.Met147_Thr149del)
| gnomAD v4 |
19 | g.35851041G>A | CA405410098 | NPHS1 | c.446C>T (p.Thr149Ile)
| dbSNP gnomAD v4 |
19 | g.35851041G>C | CA405410100 | NPHS1 | c.446C>G (p.Thr149Ser)
| |
19 | g.35851041G>T | CA405410103 | NPHS1 | c.446C>A (p.Thr149Asn)
| |
19 | g.35851042T>A | CA405410106 | NPHS1 | c.445A>T (p.Thr149Ser)
| |
19 | g.35851042T>C | CA405410110 | NPHS1 | c.445A>G (p.Thr149Ala)
| |
19 | g.35851042T>G | CA405410108 | NPHS1 | c.445A>C (p.Thr149Pro)
| |
19 | g.35851043G>A | CA507086248 | NPHS1 | c.444C>T (p.Val148=)
| gnomAD v4 |
19 | g.35851043G>C | CA507086250 | NPHS1 | c.444C>G (p.Val148=)
| |
19 | g.35851043G>T | CA507086251 | NPHS1 | c.444C>A (p.Val148=)
| |
19 | g.35851044A>C | CA405410115 | NPHS1 | c.443T>G (p.Val148Gly)
| |
19 | g.35851044A>G | CA405410117 | NPHS1 | c.443T>C (p.Val148Ala)
| |
19 | g.35851044A>T | CA405410120 | NPHS1 | c.443T>A (p.Val148Asp)
| |
19 | g.35851045C>A | CA405410124 | NPHS1 | c.442G>T (p.Val148Phe)
| |
19 | g.35851045C>G | CA405410126 | NPHS1 | c.442G>C (p.Val148Leu)
| |
19 | g.35851045C>T | CA405410130 | NPHS1 | c.442G>A (p.Val148Ile)
| |
19 | g.35851046C>A | CA405410133 | NPHS1 | c.441G>T (p.Met147Ile)
| |
19 | g.35851046C= | CA2333851640 | NPHS1 | c.441G= (p.Met147=)
| |
19 | g.35851046C>G | CA405410136 | NPHS1 | c.441G>C (p.Met147Ile)
| |
19 | g.35851046C>T | CA405410139 | NPHS1 | c.441G>A (p.Met147Ile)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851047A= | CA2333851641 | NPHS1 | c.440T= (p.Met147=)
| |
19 | g.35851047A>C | CA405410143 | NPHS1 | c.440T>G (p.Met147Arg)
| |
19 | g.35851047A>G | CA307790261 | NPHS1 | c.440T>C (p.Met147Thr)
| dbSNP |
19 | g.35851047A>T | CA405410142 | NPHS1 | c.440T>A (p.Met147Lys)
| |
19 | g.35851048T>A | CA405410149 | NPHS1 | c.439A>T (p.Met147Leu)
| |
19 | g.35851048T>C | CA405410151 | NPHS1 | c.439A>G (p.Met147Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851048T>G | CA405410153 | NPHS1 | c.439A>C (p.Met147Leu)
| |
19 | g.35851048T= | CA2333851642 | NPHS1 | c.439A= (p.Met147=)
| |
19 | g.35851049G>A | CA507086272 | NPHS1 | c.438C>T (p.Thr146=)
| |
19 | g.35851049G>C | CA507086274 | NPHS1 | c.438C>G (p.Thr146=)
| |
19 | g.35851049G>T | CA507086277 | NPHS1 | c.438C>A (p.Thr146=)
| |
19 | g.35851050G>A | CA405410158 | NPHS1 | c.437C>T (p.Thr146Ile)
| |
19 | g.35851050G>C | CA405410159 | NPHS1 | c.437C>G (p.Thr146Ser)
| |
19 | g.35851050G>T | CA405410161 | NPHS1 | c.437C>A (p.Thr146Asn)
| |
19 | g.35851051T>A | CA405410166 | NPHS1 | c.436A>T (p.Thr146Ser)
| |
19 | g.35851051T>C | CA405410168 | NPHS1 | c.436A>G (p.Thr146Ala)
| gnomAD v4 |
19 | g.35851051T>G | CA405410170 | NPHS1 | c.436A>C (p.Thr146Pro)
| |
19 | g.35851052G>A | CA507086293 | NPHS1 | c.435C>T (p.Gly145=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35851052G>C | CA507086291 | NPHS1 | c.435C>G (p.Gly145=)
| |
19 | g.35851052G= | CA2333851643 | NPHS1 | c.435C= (p.Gly145=)
| |
19 | g.35851052G>T | CA507086290 | NPHS1 | c.435C>A (p.Gly145=)
| |
19 | g.35851053C>A | CA405410173 | NPHS1 | c.434G>T (p.Gly145Val)
| |
19 | g.35851053C>G | CA405410175 | NPHS1 | c.434G>C (p.Gly145Ala)
| |
19 | g.35851053C>T | CA405410178 | NPHS1 | c.434G>A (p.Gly145Asp)
| |
19 | g.35851054C>A | CA405410185 | NPHS1 | c.433G>T (p.Gly145Cys)
| gnomAD v4 |
19 | g.35851054C>G | CA405410186 | NPHS1 | c.433G>C (p.Gly145Arg)
| |
19 | g.35851054C>T | CA405410182 | NPHS1 | c.433G>A (p.Gly145Ser)
| |
19 | g.35851055T>A | CA507086303 | NPHS1 | c.432A>T (p.Ala144=)
| |
19 | g.35851055T>C | CA507086304 | NPHS1 | c.432A>G (p.Ala144=)
| ClinVar |
19 | g.35851055T>G | CA507086306 | NPHS1 | c.432A>C (p.Ala144=)
| |
19 | g.35851056G>A | CA405410190 | NPHS1 | c.431C>T (p.Ala144Val)
| |
19 | g.35851056G>C | CA405410194 | NPHS1 | c.431C>G (p.Ala144Gly)
| dbSNP gnomAD v4 |
19 | g.35851056G= | CA2333851644 | NPHS1 | c.431C= (p.Ala144=)
| |
19 | g.35851056G>T | CA405410197 | NPHS1 | c.431C>A (p.Ala144Glu)
| |
19 | g.35851057C>A | CA405410201 | NPHS1 | c.430G>T (p.Ala144Ser)
| |
19 | g.35851057C= | CA2333851645 | NPHS1 | c.430G= (p.Ala144=)
| |
19 | g.35851057C>G | CA405410209 | NPHS1 | c.430G>C (p.Ala144Pro)
| |
19 | g.35851057C>T | CA405410211 | NPHS1 | c.430G>A (p.Ala144Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35851058C>A | CA405410214 | NPHS1 | c.429G>T (p.Glu143Asp)
| |
19 | g.35851058C= | CA2333851646 | NPHS1 | c.429G= (p.Glu143=)
| |
19 | g.35851058C>G | CA405410216 | NPHS1 | c.429G>C (p.Glu143Asp)
| |
19 | g.35851058C>T | CA507314607 | NPHS1 | c.429G>A (p.Glu143=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851059T>A | CA9390803 | NPHS1 | c.428A>T (p.Glu143Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851059T>C | CA405410221 | NPHS1 | c.428A>G (p.Glu143Gly)
| |
19 | g.35851059T>G | CA405410223 | NPHS1 | c.428A>C (p.Glu143Ala)
| dbSNP |
19 | g.35851059T= | CA2333851647 | NPHS1 | c.428A= (p.Glu143=)
| |
19 | g.35851060C>A | CA405410227 | NPHS1 | c.427G>T (p.Glu143Ter)
| |
19 | g.35851060C= | CA2333851648 | NPHS1 | c.427G= (p.Glu143=)
| |
19 | g.35851060C>G | CA9390804 | NPHS1 | c.427G>C (p.Glu143Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851060C>T | CA405410234 | NPHS1 | c.427G>A (p.Glu143Lys)
| |
19 | g.35851061T>A | CA507314616 | NPHS1 | c.426A>T (p.Pro142=)
| |
19 | g.35851061T>C | CA507314618 | NPHS1 | c.426A>G (p.Pro142=)
| |
19 | g.35851061T>G | CA507314619 | NPHS1 | c.426A>C (p.Pro142=)
| |
19 | g.35851062G>A | CA405410240 | NPHS1 | c.425C>T (p.Pro142Leu)
| |
19 | g.35851062G>C | CA405410243 | NPHS1 | c.425C>G (p.Pro142Arg)
| |
19 | g.35851062G>T | CA405410238 | NPHS1 | c.425C>A (p.Pro142Gln)
| |
19 | g.35851065dup | CA2839706360 | NPHS1 | c.425dup (p.Glu143ArgfsTer28)
| |
19 | g.35851064_35851065del | CA2580096897 | NPHS1 | c.424_425del (p.Pro142ArgfsTer28)
| ClinVar |
19 | g.35851063G>A | CA405410246 | NPHS1 | c.424C>T (p.Pro142Ser)
| |
19 | g.35851063G>C | CA405410245 | NPHS1 | c.424C>G (p.Pro142Ala)
| |
19 | g.35851063G>T | CA405410247 | NPHS1 | c.424C>A (p.Pro142Thr)
| dbSNP |
19 | g.35851064G>A | CA507314626 | NPHS1 | c.423C>T (p.Thr141=)
| |
19 | g.35851064G>C | CA507314627 | NPHS1 | c.423C>G (p.Thr141=)
| |
19 | g.35851064G>T | CA507314629 | NPHS1 | c.423C>A (p.Thr141=)
| gnomAD v4 |
19 | g.35851065G>A | CA405410249 | NPHS1 | c.422C>T (p.Thr141Ile)
| |
19 | g.35851065G>C | CA405410253 | NPHS1 | c.422C>G (p.Thr141Ser)
| |
19 | g.35851065G>T | CA405410250 | NPHS1 | c.422C>A (p.Thr141Asn)
| ClinVar gnomAD v4 |
19 | g.35851066T>A | CA405410256 | NPHS1 | c.421A>T (p.Thr141Ser)
| |
19 | g.35851066T>C | CA405410258 | NPHS1 | c.421A>G (p.Thr141Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851066T>G | CA405410262 | NPHS1 | c.421A>C (p.Thr141Pro)
| |
19 | g.35851066T= | CA2333851649 | NPHS1 | c.421A= (p.Thr141=)
| |
19 | g.35851067C>A | CA507314641 | NPHS1 | c.420G>T (p.Leu140=)
| |
19 | g.35851067C>G | CA507314642 | NPHS1 | c.420G>C (p.Leu140=)
| |
19 | g.35851067C>T | CA507314643 | NPHS1 | c.420G>A (p.Leu140=)
| |
19 | g.35851068A>C | CA405410265 | NPHS1 | c.419T>G (p.Leu140Arg)
| |
19 | g.35851068A>G | CA405410267 | NPHS1 | c.419T>C (p.Leu140Pro)
| gnomAD v4 |
19 | g.35851068A>T | CA405410268 | NPHS1 | c.419T>A (p.Leu140Gln)
| |
19 | g.35851069G>A | CA507314647 | NPHS1 | c.418C>T (p.Leu140=)
| |
19 | g.35851069G>C | CA405410269 | NPHS1 | c.418C>G (p.Leu140Val)
| |
19 | g.35851069G>T | CA405410270 | NPHS1 | c.418C>A (p.Leu140Met)
| |
19 | g.35851070C>A | CA507314648 | NPHS1 | c.417G>T (p.Leu139=)
| |
19 | g.35851070C>G | CA507314649 | NPHS1 | c.417G>C (p.Leu139=)
| |
19 | g.35851070C>T | CA507314650 | NPHS1 | c.417G>A (p.Leu139=)
| |
19 | g.35851071A= | CA2333851650 | NPHS1 | c.416T= (p.Leu139=)
| |
19 | g.35851071A>C | CA405410273 | NPHS1 | c.416T>G (p.Leu139Arg)
| |
19 | g.35851071A>G | CA9390805 | NPHS1 | c.416T>C (p.Leu139Pro)
| dbSNP ExAC gnomAD v2 |
19 | g.35851071A>T | CA405410276 | NPHS1 | c.416T>A (p.Leu139Gln)
| |
19 | g.35851072G>A | CA507314656 | NPHS1 | c.415C>T (p.Leu139=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35851072G>C | CA405410280 | NPHS1 | c.415C>G (p.Leu139Val)
| |
19 | g.35851072G>T | CA405410282 | NPHS1 | c.415C>A (p.Leu139Met)
| |