19 | g.35849230_35849254dup | CA9390641 | NPHS1 | c.822_840+6dup
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849242C>A | CA405407001 | NPHS1 | c.834G>T (p.Trp278Cys)
| |
19 | g.35849242C>G | CA405407002 | NPHS1 | c.834G>C (p.Trp278Cys)
| |
19 | g.35849242C>T | CA405407003 | NPHS1 | c.834G>A (p.Trp278Ter)
| |
19 | g.35849243C>A | CA9390646 | NPHS1 | c.833G>T (p.Trp278Leu)
| dbSNP ExAC gnomAD v2 |
19 | g.35849243C= | CA2333850802 | NPHS1 | c.833G= (p.Trp278=)
| |
19 | g.35849243C>G | CA405407004 | NPHS1 | c.833G>C (p.Trp278Ser)
| |
19 | g.35849243C>T | CA405407005 | NPHS1 | c.833G>A (p.Trp278Ter)
| gnomAD v4 |
19 | g.35849243_35849249dup | CA2697556481 | NPHS1 | c.827_833dup (p.Trp278CysfsTer?)
| ClinVar |
19 | g.35849244A>C | CA405407006 | NPHS1 | c.832T>G (p.Trp278Gly)
| |
19 | g.35849244A>G | CA405407007 | NPHS1 | c.832T>C (p.Trp278Arg)
| |
19 | g.35849244A>T | CA405407008 | NPHS1 | c.832T>A (p.Trp278Arg)
| |
19 | g.35849245C>A | CA405407009 | NPHS1 | c.831G>T (p.Gln277His)
| |
19 | g.35849245C= | CA2333850803 | NPHS1 | c.831G= (p.Gln277=)
| |
19 | g.35849245C>G | CA405407010 | NPHS1 | c.831G>C (p.Gln277His)
| |
19 | g.35849245C>T | CA507314549 | NPHS1 | c.831G>A (p.Gln277=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849246T>A | CA405407011 | NPHS1 | c.830A>T (p.Gln277Leu)
| |
19 | g.35849246T>C | CA405407012 | NPHS1 | c.830A>G (p.Gln277Arg)
| |
19 | g.35849246T>G | CA405407013 | NPHS1 | c.830A>C (p.Gln277Pro)
| |
19 | g.35849247G>A | CA405407014 | NPHS1 | c.829C>T (p.Gln277Ter)
| |
19 | g.35849247G>C | CA405407015 | NPHS1 | c.829C>G (p.Gln277Glu)
| |
19 | g.35849247G= | CA2333850804 | NPHS1 | c.829C= (p.Gln277=)
| |
19 | g.35849247G>T | CA9390647 | NPHS1 | c.829C>A (p.Gln277Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849248C>A | CA507314553 | NPHS1 | c.828G>T (p.Leu276=)
| |
19 | g.35849248C>G | CA507314552 | NPHS1 | c.828G>C (p.Leu276=)
| |
19 | g.35849248C>T | CA507314551 | NPHS1 | c.828G>A (p.Leu276=)
| |
19 | g.35849249A= | CA2333850805 | NPHS1 | c.827T= (p.Leu276=)
| |
19 | g.35849249A>C | CA405407016 | NPHS1 | c.827T>G (p.Leu276Arg)
| |
19 | g.35849249A>G | CA405407017 | NPHS1 | c.827T>C (p.Leu276Pro)
| |
19 | g.35849249A>T | CA405407018 | NPHS1 | c.827T>A (p.Leu276Gln)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849250G>A | CA9390648 | NPHS1 | c.826C>T (p.Leu276=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849250G>C | CA405407019 | NPHS1 | c.826C>G (p.Leu276Val)
| gnomAD v4 |
19 | g.35849250G= | CA2333850806 | NPHS1 | c.826C= (p.Leu276=)
| |
19 | g.35849250G>T | CA405407020 | NPHS1 | c.826C>A (p.Leu276Met)
| |
19 | g.35849251T>A | CA9390649 | NPHS1 | c.825A>T (p.Thr275=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849251T>C | CA507314556 | NPHS1 | c.825A>G (p.Thr275=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849251T>G | CA507314557 | NPHS1 | c.825A>C (p.Thr275=)
| |
19 | g.35849251T= | CA2333850807 | NPHS1 | c.825A= (p.Thr275=)
| |
19 | g.35849252G>A | CA405407021 | NPHS1 | c.824C>T (p.Thr275Ile)
| dbSNP |
19 | g.35849252G>C | CA405407022 | NPHS1 | c.824C>G (p.Thr275Arg)
| |
19 | g.35849252G= | CA2333850808 | NPHS1 | c.824C= (p.Thr275=)
| |
19 | g.35849252G>T | CA405407023 | NPHS1 | c.824C>A (p.Thr275Lys)
| |
19 | g.35849253T>A | CA405407024 | NPHS1 | c.823A>T (p.Thr275Ser)
| gnomAD v4 |
19 | g.35849253T>C | CA405407025 | NPHS1 | c.823A>G (p.Thr275Ala)
| gnomAD v4 |
19 | g.35849253T>G | CA405407026 | NPHS1 | c.823A>C (p.Thr275Pro)
| |
19 | g.35849254G>A | CA507314558 | NPHS1 | c.822C>T (p.Ala274=)
| ClinVar dbSNP |
19 | g.35849254G>C | CA507314559 | NPHS1 | c.822C>G (p.Ala274=)
| |
19 | g.35849254G= | CA2333850809 | NPHS1 | c.822C= (p.Ala274=)
| |
19 | g.35849254G>T | CA507314560 | NPHS1 | c.822C>A (p.Ala274=)
| dbSNP |
19 | g.35849255G>A | CA405407029 | NPHS1 | c.821C>T (p.Ala274Val)
| gnomAD v4 |
19 | g.35849255G>C | CA405407028 | NPHS1 | c.821C>G (p.Ala274Gly)
| |
19 | g.35849255G>T | CA405407027 | NPHS1 | c.821C>A (p.Ala274Asp)
| |
19 | g.35849256C>A | CA405407030 | NPHS1 | c.820G>T (p.Ala274Ser)
| |
19 | g.35849256C>G | CA405407031 | NPHS1 | c.820G>C (p.Ala274Pro)
| |
19 | g.35849256C>T | CA405407032 | NPHS1 | c.820G>A (p.Ala274Thr)
| |
19 | g.35849257T>A | CA405407033 | NPHS1 | c.819A>T (p.Leu273Phe)
| |
19 | g.35849257T>C | CA507314564 | NPHS1 | c.819A>G (p.Leu273=)
| |
19 | g.35849257T>G | CA405407034 | NPHS1 | c.819A>C (p.Leu273Phe)
| |
19 | g.35849258A>C | CA405407035 | NPHS1 | c.818T>G (p.Leu273Ter)
| |
19 | g.35849258A>G | CA405407036 | NPHS1 | c.818T>C (p.Leu273Ser)
| |
19 | g.35849258A>T | CA405407037 | NPHS1 | c.818T>A (p.Leu273Ter)
| |
19 | g.35849259A>C | CA405407038 | NPHS1 | c.817T>G (p.Leu273Val)
| |
19 | g.35849259A>G | CA507314565 | NPHS1 | c.817T>C (p.Leu273=)
| |
19 | g.35849259A>T | CA405407039 | NPHS1 | c.817T>A (p.Leu273Ile)
| |
19 | g.35849259_35849260delinsAG | CA2333850810 | NPHS1 | c.816_817delinsCT (p.Pro272=)
| |
19 | g.35849260G>A | CA9390650 | NPHS1 | c.816C>T (p.Pro272=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849260G>C | CA507314566 | NPHS1 | c.816C>G (p.Pro272=)
| dbSNP |
19 | g.35849260G= | CA2333850811 | NPHS1 | c.816C= (p.Pro272=)
| |
19 | g.35849260G>T | CA507314567 | NPHS1 | c.816C>A (p.Pro272=)
| |
19 | g.35849262del | CA995487070 | NPHS1 | c.816del (p.Leu273Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849261G>A | CA405407040 | NPHS1 | c.815C>T (p.Pro272Leu)
| gnomAD v4 |
19 | g.35849261G>C | CA405407041 | NPHS1 | c.815C>G (p.Pro272Arg)
| |
19 | g.35849261G>T | CA405407042 | NPHS1 | c.815C>A (p.Pro272His)
| |
19 | g.35849262G>A | CA405407044 | NPHS1 | c.814C>T (p.Pro272Ser)
| |
19 | g.35849262G>C | CA405407045 | NPHS1 | c.814C>G (p.Pro272Ala)
| gnomAD v4 |
19 | g.35849262G>T | CA405407043 | NPHS1 | c.814C>A (p.Pro272Thr)
| COSMIC |
19 | g.35849263A>C | CA405407046 | NPHS1 | c.813T>G (p.Asn271Lys)
| |
19 | g.35849263A>G | CA507314568 | NPHS1 | c.813T>C (p.Asn271=)
| |
19 | g.35849263A>T | CA405407047 | NPHS1 | c.813T>A (p.Asn271Lys)
| |
19 | g.35849264T>A | CA405407048 | NPHS1 | c.812A>T (p.Asn271Ile)
| |
19 | g.35849264T>C | CA405407049 | NPHS1 | c.812A>G (p.Asn271Ser)
| |
19 | g.35849264T>G | CA405407050 | NPHS1 | c.812A>C (p.Asn271Thr)
| |
19 | g.35849265T>A | CA405407053 | NPHS1 | c.811A>T (p.Asn271Tyr)
| |
19 | g.35849265T>C | CA405407052 | NPHS1 | c.811A>G (p.Asn271Asp)
| |
19 | g.35849265T>G | CA405407051 | NPHS1 | c.811A>C (p.Asn271His)
| |
19 | g.35849266A= | CA2333850812 | NPHS1 | c.810T= (p.Gly270=)
| |
19 | g.35849266A>C | CA507314576 | NPHS1 | c.810T>G (p.Gly270=)
| dbSNP |
19 | g.35849266A>G | CA507314577 | NPHS1 | c.810T>C (p.Gly270=)
| |
19 | g.35849266A>T | CA507314578 | NPHS1 | c.810T>A (p.Gly270=)
| |
19 | g.35849266dup | CA913015892 | NPHS1 | c.810dup (p.Asn271Ter)
| |
19 | g.35849267C>A | CA405407054 | NPHS1 | c.809G>T (p.Gly270Val)
| gnomAD v4 |
19 | g.35849267C>G | CA405407055 | NPHS1 | c.809G>C (p.Gly270Ala)
| |
19 | g.35849267C>T | CA405407056 | NPHS1 | c.809G>A (p.Gly270Asp)
| |
19 | g.35849271dup | CA658823767 | NPHS1 | c.809dup (p.Asn271Ter)
| ClinVar dbSNP |
19 | g.35849268C>A | CA250275 | NPHS1 | c.808G>T (p.Gly270Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849268C= | CA2333850813 | NPHS1 | c.808G= (p.Gly270=)
| |
19 | g.35849268C>G | CA405407057 | NPHS1 | c.808G>C (p.Gly270Arg)
| ClinVar COSMIC |
19 | g.35849268C>T | CA405407058 | NPHS1 | c.808G>A (p.Gly270Ser)
| |
19 | g.35849269C>A | CA507314581 | NPHS1 | c.807G>T (p.Gly269=)
| |
19 | g.35849269C>G | CA507314579 | NPHS1 | c.807G>C (p.Gly269=)
| |
19 | g.35849269C>T | CA507314580 | NPHS1 | c.807G>A (p.Gly269=)
| |
19 | g.35849270C>A | CA405407059 | NPHS1 | c.806G>T (p.Gly269Val)
| COSMIC |
19 | g.35849270C>G | CA405407061 | NPHS1 | c.806G>C (p.Gly269Ala)
| |
19 | g.35849270C>T | CA405407060 | NPHS1 | c.806G>A (p.Gly269Glu)
| COSMIC |
19 | g.35849271C>A | CA405407062 | NPHS1 | c.805G>T (p.Gly269Trp)
| |
19 | g.35849271C>G | CA405407063 | NPHS1 | c.805G>C (p.Gly269Arg)
| |
19 | g.35849271C>T | CA405407064 | NPHS1 | c.805G>A (p.Gly269Arg)
| gnomAD v4 |
19 | g.35849272T>A | CA507314582 | NPHS1 | c.804A>T (p.Arg268=)
| |
19 | g.35849272T>C | CA507314583 | NPHS1 | c.804A>G (p.Arg268=)
| |
19 | g.35849272T>G | CA507314584 | NPHS1 | c.804A>C (p.Arg268=)
| |
19 | g.35849272_35849273delinsTC | CA2333850814 | NPHS1 | c.803_804delinsGA (p.Arg268=)
| |
19 | g.35849273del | CA2333850815 | NPHS1 | c.803del (p.Arg268GlnfsTer6)
| ClinVar dbSNP |
19 | g.35849273C>A | CA405407065 | NPHS1 | c.803G>T (p.Arg268Leu)
| |
19 | g.35849273C= | CA2333850816 | NPHS1 | c.803G= (p.Arg268=)
| |
19 | g.35849273C>G | CA405407066 | NPHS1 | c.803G>C (p.Arg268Pro)
| |
19 | g.35849273C>T | CA9390651 | NPHS1 | c.803G>A (p.Arg268Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849274G>A | CA9390652 | NPHS1 | c.802C>T (p.Arg268Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849274G>C | CA405407067 | NPHS1 | c.802C>G (p.Arg268Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849274G= | CA2333850817 | NPHS1 | c.802C= (p.Arg268=)
| |
19 | g.35849274G>T | CA507314585 | NPHS1 | c.802C>A (p.Arg268=)
| |
19 | g.35849275G>A | CA507314586 | NPHS1 | c.801C>T (p.Ala267=)
| dbSNP |
19 | g.35849275G>C | CA507314588 | NPHS1 | c.801C>G (p.Ala267=)
| |
19 | g.35849275G>T | CA507314587 | NPHS1 | c.801C>A (p.Ala267=)
| ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.35849276G>A | CA405407068 | NPHS1 | c.800C>T (p.Ala267Val)
| dbSNP |
19 | g.35849276G>C | CA405407069 | NPHS1 | c.800C>G (p.Ala267Gly)
| |
19 | g.35849276G= | CA2333850819 | NPHS1 | c.800C= (p.Ala267=)
| |
19 | g.35849276G>T | CA405407070 | NPHS1 | c.800C>A (p.Ala267Asp)
| |
19 | g.35849276_35849277delinsGC | CA2333850818 | NPHS1 | c.799_800delinsGC (p.Ala267=)
| |
19 | g.35849277C>A | CA405407073 | NPHS1 | c.799G>T (p.Ala267Ser)
| |
19 | g.35849277C>G | CA405407072 | NPHS1 | c.799G>C (p.Ala267Pro)
| |
19 | g.35849277C>T | CA405407071 | NPHS1 | c.799G>A (p.Ala267Thr)
| |
19 | g.35849278del | CA633060972 | NPHS1 | c.799del (p.Ala267ProfsTer7)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849278C>A | CA507314589 | NPHS1 | c.798G>T (p.Val266=)
| |
19 | g.35849278C>G | CA507314590 | NPHS1 | c.798G>C (p.Val266=)
| |
19 | g.35849278C>T | CA507314591 | NPHS1 | c.798G>A (p.Val266=)
| |
19 | g.35849279A>C | CA405407075 | NPHS1 | c.797T>G (p.Val266Gly)
| |
19 | g.35849279A>G | CA405407074 | NPHS1 | c.797T>C (p.Val266Ala)
| |
19 | g.35849279A>T | CA405407076 | NPHS1 | c.797T>A (p.Val266Glu)
| |
19 | g.35849280C>A | CA405407077 | NPHS1 | c.796G>T (p.Val266Leu)
| gnomAD v4 |
19 | g.35849280C= | CA2333850820 | NPHS1 | c.796G= (p.Val266=)
| |
19 | g.35849280C>G | CA405407078 | NPHS1 | c.796G>C (p.Val266Leu)
| |
19 | g.35849280C>T | CA9390653 | NPHS1 | c.796G>A (p.Val266Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849281G>A | CA9390654 | NPHS1 | c.795C>T (p.Cys265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35849281G>C | CA405407080 | NPHS1 | c.795C>G (p.Cys265Trp)
| |
19 | g.35849281G= | CA2333850821 | NPHS1 | c.795C= (p.Cys265=)
| |
19 | g.35849281G>T | CA405407079 | NPHS1 | c.795C>A (p.Cys265Ter)
| ClinVar dbSNP |
19 | g.35849282C>A | CA405407081 | NPHS1 | c.794G>T (p.Cys265Phe)
| |
19 | g.35849282C= | CA2333850822 | NPHS1 | c.794G= (p.Cys265=)
| |
19 | g.35849282C>G | CA9390655 | NPHS1 | c.794G>C (p.Cys265Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849282C>T | CA405407082 | NPHS1 | c.794G>A (p.Cys265Tyr)
| |
19 | g.35849283A= | CA2333850823 | NPHS1 | c.793T= (p.Cys265=)
| |
19 | g.35849283A>C | CA405407083 | NPHS1 | c.793T>G (p.Cys265Gly)
| |
19 | g.35849283A>G | CA250040 | NPHS1 | c.793T>C (p.Cys265Arg)
| ClinVar dbSNP |
19 | g.35849283A>T | CA405407084 | NPHS1 | c.793T>A (p.Cys265Ser)
| |
19 | g.35849284C>A | CA507314592 | NPHS1 | c.792G>T (p.Pro264=)
| |
19 | g.35849284C= | CA2333850824 | NPHS1 | c.792G= (p.Pro264=)
| |
19 | g.35849284C>G | CA507314593 | NPHS1 | c.792G>C (p.Pro264=)
| gnomAD v4 |
19 | g.35849284C>T | CA9390656 | NPHS1 | c.792G>A (p.Pro264=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849285G>A | CA9390658 | NPHS1 | c.791C>T (p.Pro264Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35849285G>C | CA203482 | NPHS1 | c.791C>G (p.Pro264Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849285G= | CA2333850825 | NPHS1 | c.791C= (p.Pro264=)
| |
19 | g.35849285G>T | CA9390657 | NPHS1 | c.791C>A (p.Pro264Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849286G>A | CA405407085 | NPHS1 | c.790C>T (p.Pro264Ser)
| dbSNP gnomAD v2 COSMIC |
19 | g.35849286G>C | CA405407086 | NPHS1 | c.790C>G (p.Pro264Ala)
| |
19 | g.35849286G= | CA2333850826 | NPHS1 | c.790C= (p.Pro264=)
| |
19 | g.35849286G>T | CA405407087 | NPHS1 | c.790C>A (p.Pro264Thr)
| |
19 | g.35849287C>A | CA507314594 | NPHS1 | c.789G>T (p.Leu263=)
| |
19 | g.35849287C= | CA2333850827 | NPHS1 | c.789G= (p.Leu263=)
| |
19 | g.35849287C>G | CA507314595 | NPHS1 | c.789G>C (p.Leu263=)
| |
19 | g.35849287C>T | CA507314596 | NPHS1 | c.789G>A (p.Leu263=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849288A>C | CA405407088 | NPHS1 | c.788T>G (p.Leu263Arg)
| |
19 | g.35849288A>G | CA405407089 | NPHS1 | c.788T>C (p.Leu263Pro)
| |
19 | g.35849288A>T | CA405407090 | NPHS1 | c.788T>A (p.Leu263Gln)
| |
19 | g.35849289G>A | CA507314597 | NPHS1 | c.787C>T (p.Leu263=)
| |
19 | g.35849289G>C | CA405407091 | NPHS1 | c.787C>G (p.Leu263Val)
| |
19 | g.35849289G>T | CA405407092 | NPHS1 | c.787C>A (p.Leu263Met)
| |
19 | g.35849290C>A | CA405407093 | NPHS1 | c.786G>T (p.Glu262Asp)
| |
19 | g.35849290C>G | CA405407094 | NPHS1 | c.786G>C (p.Glu262Asp)
| |
19 | g.35849290C>T | CA507314598 | NPHS1 | c.786G>A (p.Glu262=)
| |
19 | g.35849291T>A | CA405407095 | NPHS1 | c.785A>T (p.Glu262Val)
| |
19 | g.35849291T>C | CA405407096 | NPHS1 | c.785A>G (p.Glu262Gly)
| |
19 | g.35849291T>G | CA405407097 | NPHS1 | c.785A>C (p.Glu262Ala)
| gnomAD v4 |
19 | g.35849292C>A | CA405407098 | NPHS1 | c.784G>T (p.Glu262Ter)
| |
19 | g.35849292C= | CA2333850828 | NPHS1 | c.784G= (p.Glu262=)
| |
19 | g.35849292C>G | CA405407099 | NPHS1 | c.784G>C (p.Glu262Gln)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849292C>T | CA405407100 | NPHS1 | c.784G>A (p.Glu262Lys)
| |
19 | g.35849293C>A | CA405407101 | NPHS1 | c.783G>T (p.Leu261Phe)
| |
19 | g.35849293C>G | CA405407102 | NPHS1 | c.783G>C (p.Leu261Phe)
| |
19 | g.35849293C>T | CA507314602 | NPHS1 | c.783G>A (p.Leu261=)
| ClinVar |
19 | g.35849294A>C | CA405407103 | NPHS1 | c.782T>G (p.Leu261Trp)
| gnomAD v4 |
19 | g.35849294A>G | CA405407104 | NPHS1 | c.782T>C (p.Leu261Ser)
| |
19 | g.35849294A>T | CA405407105 | NPHS1 | c.782T>A (p.Leu261Ter)
| |
19 | g.35849295A>C | CA405407106 | NPHS1 | c.781T>G (p.Leu261Val)
| |
19 | g.35849295A>G | CA507314604 | NPHS1 | c.781T>C (p.Leu261=)
| |
19 | g.35849295A>T | CA405407107 | NPHS1 | c.781T>A (p.Leu261Met)
| |
19 | g.35849296G>A | CA9390659 | NPHS1 | c.780C>T (p.Ser260=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849296G>C | CA405407109 | NPHS1 | c.780C>G (p.Ser260Arg)
| |
19 | g.35849296G= | CA2333850829 | NPHS1 | c.780C= (p.Ser260=)
| |
19 | g.35849296G>T | CA405407108 | NPHS1 | c.780C>A (p.Ser260Arg)
| |
19 | g.35849297C>A | CA405407110 | NPHS1 | c.779G>T (p.Ser260Ile)
| |
19 | g.35849297C>G | CA405407111 | NPHS1 | c.779G>C (p.Ser260Thr)
| |
19 | g.35849297C>T | CA405407112 | NPHS1 | c.779G>A (p.Ser260Asn)
| gnomAD v4 |
19 | g.35849298T>A | CA405407113 | NPHS1 | c.778A>T (p.Ser260Cys)
| |
19 | g.35849298T>C | CA405407114 | NPHS1 | c.778A>G (p.Ser260Gly)
| dbSNP gnomAD v4 |
19 | g.35849298T>G | CA405407115 | NPHS1 | c.778A>C (p.Ser260Arg)
| |
19 | g.35849298T= | CA2333850830 | NPHS1 | c.778A= (p.Ser260=)
| |
19 | g.35849299C>A | CA405407117 | NPHS1 | c.777G>T (p.Gln259His)
| |
19 | g.35849299C>G | CA405407116 | NPHS1 | c.777G>C (p.Gln259His)
| |
19 | g.35849299C>T | CA507314611 | NPHS1 | c.777G>A (p.Gln259=)
| ClinVar |
19 | g.35849300T>A | CA405407118 | NPHS1 | c.776A>T (p.Gln259Leu)
| |
19 | g.35849300T>C | CA9390660 | NPHS1 | c.776A>G (p.Gln259Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35849300T>G | CA405407119 | NPHS1 | c.776A>C (p.Gln259Pro)
| |
19 | g.35849300T= | CA2333850831 | NPHS1 | c.776A= (p.Gln259=)
| |
19 | g.35849301G>A | CA9390661 | NPHS1 | c.775C>T (p.Gln259Ter)
| dbSNP ExAC |
19 | g.35849301G>C | CA405407120 | NPHS1 | c.775C>G (p.Gln259Glu)
| gnomAD v4 |
19 | g.35849301G= | CA2333850832 | NPHS1 | c.775C= (p.Gln259=)
| |
19 | g.35849301G>T | CA405407121 | NPHS1 | c.775C>A (p.Gln259Lys)
| |
19 | g.35849302T>A | CA507314614 | NPHS1 | c.774A>T (p.Gly258=)
| |
19 | g.35849302T>C | CA507314617 | NPHS1 | c.774A>G (p.Gly258=)
| |
19 | g.35849302T>G | CA507314615 | NPHS1 | c.774A>C (p.Gly258=)
| |
19 | g.35849303C>A | CA405407122 | NPHS1 | c.773G>T (p.Gly258Val)
| |
19 | g.35849303C= | CA2333850833 | NPHS1 | c.773G= (p.Gly258=)
| |
19 | g.35849303C>G | CA405407124 | NPHS1 | c.773G>C (p.Gly258Ala)
| dbSNP gnomAD v4 |
19 | g.35849303C>T | CA405407123 | NPHS1 | c.773G>A (p.Gly258Glu)
| |
19 | g.35849304C>A | CA405407125 | NPHS1 | c.772G>T (p.Gly258Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849304C= | CA2333850834 | NPHS1 | c.772G= (p.Gly258=)
| |
19 | g.35849304C>G | CA405407126 | NPHS1 | c.772G>C (p.Gly258Arg)
| |
19 | g.35849304C>T | CA405407127 | NPHS1 | c.772G>A (p.Gly258Arg)
| COSMIC |
19 | g.35849305T>A | CA507314623 | NPHS1 | c.771A>T (p.Ala257=)
| |
19 | g.35849305T>C | CA507314624 | NPHS1 | c.771A>G (p.Ala257=)
| gnomAD v4 |
19 | g.35849305T>G | CA507314625 | NPHS1 | c.771A>C (p.Ala257=)
| |
19 | g.35849306G>A | CA405407128 | NPHS1 | c.770C>T (p.Ala257Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849306G>C | CA405407129 | NPHS1 | c.770C>G (p.Ala257Gly)
| |
19 | g.35849306G= | CA2333850835 | NPHS1 | c.770C= (p.Ala257=)
| |
19 | g.35849306G>T | CA405407130 | NPHS1 | c.770C>A (p.Ala257Glu)
| gnomAD v4 |
19 | g.35849307C>A | CA405407131 | NPHS1 | c.769G>T (p.Ala257Ser)
| gnomAD v4 |
19 | g.35849307C= | CA2333850836 | NPHS1 | c.769G= (p.Ala257=)
| |
19 | g.35849307C>G | CA405407132 | NPHS1 | c.769G>C (p.Ala257Pro)
| |
19 | g.35849307C>T | CA405407133 | NPHS1 | c.769G>A (p.Ala257Thr)
| dbSNP COSMIC |
19 | g.35849308C>A | CA507314631 | NPHS1 | c.768G>T (p.Arg256=)
| |
19 | g.35849308C= | CA2333850837 | NPHS1 | c.768G= (p.Arg256=)
| |
19 | g.35849308C>G | CA507314633 | NPHS1 | c.768G>C (p.Arg256=)
| |
19 | g.35849308C>T | CA9390662 | NPHS1 | c.768G>A (p.Arg256=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849309C>A | CA405407134 | NPHS1 | c.767G>T (p.Arg256Leu)
| dbSNP |
19 | g.35849309C= | CA2333850838 | NPHS1 | c.767G= (p.Arg256=)
| |
19 | g.35849309C>G | CA405407135 | NPHS1 | c.767G>C (p.Arg256Pro)
| |
19 | g.35849309C>T | CA9390663 | NPHS1 | c.767G>A (p.Arg256Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849310G>A | CA250273 | NPHS1 | c.766C>T (p.Arg256Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849310G>C | CA9390664 | NPHS1 | c.766C>G (p.Arg256Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849310G= | CA2333850839 | NPHS1 | c.766C= (p.Arg256=)
| |
19 | g.35849310G>T | CA507314635 | NPHS1 | c.766C>A (p.Arg256=)
| gnomAD v4 |
19 | g.35849311C>A | CA507314637 | NPHS1 | c.765G>T (p.Val255=)
| |
19 | g.35849311C>G | CA507314639 | NPHS1 | c.765G>C (p.Val255=)
| |
19 | g.35849311C>T | CA507314640 | NPHS1 | c.765G>A (p.Val255=)
| |
19 | g.35849312A>C | CA405407136 | NPHS1 | c.764T>G (p.Val255Gly)
| |
19 | g.35849312A>G | CA405407137 | NPHS1 | c.764T>C (p.Val255Ala)
| |
19 | g.35849312A>T | CA405407138 | NPHS1 | c.764T>A (p.Val255Glu)
| |
19 | g.35849313C>A | CA9390665 | NPHS1 | c.763G>T (p.Val255Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849313C= | CA2333850840 | NPHS1 | c.763G= (p.Val255=)
| |
19 | g.35849313C>G | CA405407139 | NPHS1 | c.763G>C (p.Val255Leu)
| gnomAD v4 |
19 | g.35849313C>T | CA9390666 | NPHS1 | c.763G>A (p.Val255Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849314G>A | CA9390668 | NPHS1 | c.762C>T (p.His254=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35849314G>C | CA405407140 | NPHS1 | c.762C>G (p.His254Gln)
| gnomAD v4 |
19 | g.35849314G= | CA2333850841 | NPHS1 | c.762C= (p.His254=)
| |
19 | g.35849314G>T | CA9390667 | NPHS1 | c.762C>A (p.His254Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849315T>A | CA405407141 | NPHS1 | c.761A>T (p.His254Leu)
| |
19 | g.35849315T>C | CA405407142 | NPHS1 | c.761A>G (p.His254Arg)
| |
19 | g.35849315T>G | CA405407143 | NPHS1 | c.761A>C (p.His254Pro)
| |
19 | g.35849316G>A | CA9390669 | NPHS1 | c.760C>T (p.His254Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849316G>C | CA405407144 | NPHS1 | c.760C>G (p.His254Asp)
| dbSNP gnomAD v2 |
19 | g.35849316G= | CA2333850842 | NPHS1 | c.760C= (p.His254=)
| |
19 | g.35849316G>T | CA405407145 | NPHS1 | c.760C>A (p.His254Asn)
| |
19 | g.35849317C>A | CA507314655 | NPHS1 | c.759G>T (p.Gly253=)
| |
19 | g.35849317C= | CA2333850843 | NPHS1 | c.759G= (p.Gly253=)
| |
19 | g.35849317C>G | CA507314653 | NPHS1 | c.759G>C (p.Gly253=)
| |
19 | g.35849317C>T | CA9390670 | NPHS1 | c.759G>A (p.Gly253=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849318C>A | CA405407146 | NPHS1 | c.758G>T (p.Gly253Val)
| |
19 | g.35849318C>G | CA405407147 | NPHS1 | c.758G>C (p.Gly253Ala)
| |
19 | g.35849318C>T | CA405407148 | NPHS1 | c.758G>A (p.Gly253Glu)
| COSMIC |
19 | g.35849319C>A | CA405407149 | NPHS1 | c.757G>T (p.Gly253Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849319C= | CA2333850844 | NPHS1 | c.757G= (p.Gly253=)
| |
19 | g.35849319C>G | CA405407150 | NPHS1 | c.757G>C (p.Gly253Arg)
| |
19 | g.35849319C>T | CA405407151 | NPHS1 | c.757G>A (p.Gly253Arg)
| |
19 | g.35849320C>A | CA405407152 | NPHS1 | c.756G>T (p.Glu252Asp)
| |
19 | g.35849320C>G | CA405407153 | NPHS1 | c.756G>C (p.Glu252Asp)
| |
19 | g.35849320C>T | CA507314660 | NPHS1 | c.756G>A (p.Glu252=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849321T>A | CA405407154 | NPHS1 | c.755A>T (p.Glu252Val)
| |
19 | g.35849321T>C | CA405407155 | NPHS1 | c.755A>G (p.Glu252Gly)
| |
19 | g.35849321T>G | CA405407156 | NPHS1 | c.755A>C (p.Glu252Ala)
| |
19 | g.35849321dup | CA2584603916 | NPHS1 | c.755dup (p.His254AlafsTer18)
| gnomAD v4 |
19 | g.35849322C>A | CA405407157 | NPHS1 | c.754G>T (p.Glu252Ter)
| dbSNP |
19 | g.35849322C= | CA2333850845 | NPHS1 | c.754G= (p.Glu252=)
| |
19 | g.35849322C>G | CA405407159 | NPHS1 | c.754G>C (p.Glu252Gln)
| |
19 | g.35849322C>T | CA405407158 | NPHS1 | c.754G>A (p.Glu252Lys)
| |
19 | g.35849323A>C | CA405407160 | NPHS1 | c.753T>G (p.Asp251Glu)
| gnomAD v4 |
19 | g.35849323A>G | CA507314663 | NPHS1 | c.753T>C (p.Asp251=)
| |
19 | g.35849323A>T | CA405407161 | NPHS1 | c.753T>A (p.Asp251Glu)
| |
19 | g.35849324T>A | CA405407162 | NPHS1 | c.752A>T (p.Asp251Val)
| |
19 | g.35849324T>C | CA405407163 | NPHS1 | c.752A>G (p.Asp251Gly)
| |
19 | g.35849324T>G | CA405407164 | NPHS1 | c.752A>C (p.Asp251Ala)
| |
19 | g.35849325C>A | CA405407165 | NPHS1 | c.751G>T (p.Asp251Tyr)
| |
19 | g.35849325C= | CA2333850846 | NPHS1 | c.751G= (p.Asp251=)
| |
19 | g.35849325C>G | CA405407166 | NPHS1 | c.751G>C (p.Asp251His)
| |
19 | g.35849325C>T | CA405407167 | NPHS1 | c.751G>A (p.Asp251Asn)
| dbSNP gnomAD v4 COSMIC |
19 | g.35849326C>A | CA507314671 | NPHS1 | c.750G>T (p.Leu250=)
| |
19 | g.35849326C= | CA2333850847 | NPHS1 | c.750G= (p.Leu250=)
| |
19 | g.35849326C>G | CA507314672 | NPHS1 | c.750G>C (p.Leu250=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849326C>T | CA507314673 | NPHS1 | c.750G>A (p.Leu250=)
| |
19 | g.35849327A>C | CA405407168 | NPHS1 | c.749T>G (p.Leu250Arg)
| |
19 | g.35849327A>G | CA405407169 | NPHS1 | c.749T>C (p.Leu250Pro)
| |
19 | g.35849327A>T | CA405407170 | NPHS1 | c.749T>A (p.Leu250Gln)
| |
19 | g.35849328G>A | CA507314676 | NPHS1 | c.748C>T (p.Leu250=)
| |
19 | g.35849328G>C | CA405407171 | NPHS1 | c.748C>G (p.Leu250Val)
| |
19 | g.35849328G>T | CA405407172 | NPHS1 | c.748C>A (p.Leu250Met)
| gnomAD v4 |
19 | g.35849329G>A | CA507314680 | NPHS1 | c.747C>T (p.Gly249=)
| dbSNP gnomAD v2 |
19 | g.35849329G>C | CA507314678 | NPHS1 | c.747C>G (p.Gly249=)
| |
19 | g.35849329G= | CA2333850848 | NPHS1 | c.747C= (p.Gly249=)
| |
19 | g.35849329G>T | CA507314679 | NPHS1 | c.747C>A (p.Gly249=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849330C>A | CA405407173 | NPHS1 | c.746G>T (p.Gly249Val)
| |
19 | g.35849330C>G | CA405407175 | NPHS1 | c.746G>C (p.Gly249Ala)
| |
19 | g.35849330C>T | CA405407174 | NPHS1 | c.746G>A (p.Gly249Asp)
| |
19 | g.35849331C>A | CA405407176 | NPHS1 | c.745G>T (p.Gly249Cys)
| |
19 | g.35849331C>G | CA405407177 | NPHS1 | c.745G>C (p.Gly249Arg)
| |
19 | g.35849331C>T | CA405407178 | NPHS1 | c.745G>A (p.Gly249Ser)
| |
19 | g.35849332T>A | CA507314682 | NPHS1 | c.744A>T (p.Pro248=)
| |
19 | g.35849332T>C | CA507314683 | NPHS1 | c.744A>G (p.Pro248=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849332T>G | CA507314684 | NPHS1 | c.744A>C (p.Pro248=)
| |
19 | g.35849332T= | CA2333850849 | NPHS1 | c.744A= (p.Pro248=)
| |
19 | g.35849333G>A | CA405407180 | NPHS1 | c.743C>T (p.Pro248Leu)
| |
19 | g.35849333G>C | CA405407181 | NPHS1 | c.743C>G (p.Pro248Arg)
| gnomAD v4 |
19 | g.35849333G>T | CA405407183 | NPHS1 | c.743C>A (p.Pro248Gln)
| |
19 | g.35849334G>A | CA307788090 | NPHS1 | c.742C>T (p.Pro248Ser)
| dbSNP gnomAD v4 |
19 | g.35849334G>C | CA405407186 | NPHS1 | c.742C>G (p.Pro248Ala)
| |
19 | g.35849334G= | CA2333850850 | NPHS1 | c.742C= (p.Pro248=)
| |
19 | g.35849334G>T | CA405407189 | NPHS1 | c.742C>A (p.Pro248Thr)
| |
19 | g.35849335C>A | CA9390671 | NPHS1 | c.741G>T (p.Trp247Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849335C= | CA2333850851 | NPHS1 | c.741G= (p.Trp247=)
| |
19 | g.35849335C>G | CA405407196 | NPHS1 | c.741G>C (p.Trp247Cys)
| |
19 | g.35849335C>T | CA405407193 | NPHS1 | c.741G>A (p.Trp247Ter)
| |
19 | g.35849336C>A | CA405407202 | NPHS1 | c.740G>T (p.Trp247Leu)
| |
19 | g.35849336C= | CA2333850852 | NPHS1 | c.740G= (p.Trp247=)
| |
19 | g.35849336C>G | CA405407210 | NPHS1 | c.740G>C (p.Trp247Ser)
| |
19 | g.35849336C>T | CA405407206 | NPHS1 | c.740G>A (p.Trp247Ter)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849337del | CA2695198195 | NPHS1 | c.739del (p.Trp247GlyfsTer27)
| ClinVar |
19 | g.35849337A>C | CA405407214 | NPHS1 | c.739T>G (p.Trp247Gly)
| |
19 | g.35849337A>G | CA405407218 | NPHS1 | c.739T>C (p.Trp247Arg)
| |
19 | g.35849337A>T | CA405407216 | NPHS1 | c.739T>A (p.Trp247Arg)
| |
19 | g.35849338C>A | CA405407223 | NPHS1 | c.738G>T (p.Glu246Asp)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849338C= | CA2333850853 | NPHS1 | c.738G= (p.Glu246=)
| |
19 | g.35849338C>G | CA405407225 | NPHS1 | c.738G>C (p.Glu246Asp)
| |
19 | g.35849338C>T | CA507314692 | NPHS1 | c.738G>A (p.Glu246=)
| gnomAD v4 |
19 | g.35849339T>A | CA405407230 | NPHS1 | c.737A>T (p.Glu246Val)
| |
19 | g.35849339T>C | CA405407234 | NPHS1 | c.737A>G (p.Glu246Gly)
| |
19 | g.35849339T>G | CA405407237 | NPHS1 | c.737A>C (p.Glu246Ala)
| |
19 | g.35849340C>A | CA250270 | NPHS1 | c.736G>T (p.Glu246Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849340C= | CA2333850854 | NPHS1 | c.736G= (p.Glu246=)
| |
19 | g.35849340C>G | CA405407245 | NPHS1 | c.736G>C (p.Glu246Gln)
| |
19 | g.35849340C>T | CA9390672 | NPHS1 | c.736G>A (p.Glu246Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849341G>A | CA507314693 | NPHS1 | c.735C>T (p.Ile245=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849341G>C | CA405407249 | NPHS1 | c.735C>G (p.Ile245Met)
| |
19 | g.35849341G= | CA2333850856 | NPHS1 | c.735C= (p.Ile245=)
| |
19 | g.35849341G>T | CA507314694 | NPHS1 | c.735C>A (p.Ile245=)
| dbSNP |
19 | g.35849341_35849365delinsGATGACAGGGGGTCCTGGAGGGACT | CA2333850855 | NPHS1 | c.713-2_735delinsAGTCCCTCCAGGACCCCCTGTCATC
| |
19 | g.35849342A>C | CA405407252 | NPHS1 | c.734T>G (p.Ile245Ser)
| |
19 | g.35849342A>G | CA405407255 | NPHS1 | c.734T>C (p.Ile245Thr)
| |
19 | g.35849342A>T | CA405407258 | NPHS1 | c.734T>A (p.Ile245Asn)
| |
19 | g.35849342_35849365del | CA633060973 | NPHS1 | c.713-2_734del
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |