| 19 | g.35849208del | CA2584603906 | NPHS1 | c.840+33del (n.840+33del)
| gnomAD v4 |
| 19 | g.35849207C>A | CA881820627 | NPHS1 | c.840+29G>T (n.840+29G>T)
| dbSNP gnomAD v4 |
| 19 | g.35849207C= | CA2333850780 | NPHS1 | c.840+29G= (n.840+29G=)
| |
| 19 | g.35849207C>T | CA9390632 | NPHS1 | c.840+29G>A (n.840+29G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849208C>A | CA9390633 | NPHS1 | c.840+28G>T (n.840+28G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849208C= | CA2333850782 | NPHS1 | c.840+28G= (n.840+28G=)
| |
| 19 | g.35849208C>G | CA2584603908 | NPHS1 | c.840+28G>C (n.840+28G>C)
| gnomAD v4 |
| 19 | g.35849208_35849209delinsCA | CA2333850781 | NPHS1 | c.840+27_840+28delinsTG (n.840+27_840+28delinsTG)
| |
| 19 | g.35849209del | CA9390634 | NPHS1 | c.840+27del (n.840+27del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849209A= | CA2333850783 | NPHS1 | c.840+27T= (n.840+27T=)
| |
| 19 | g.35849209A>C | CA881820630 | NPHS1 | c.840+27T>G (n.840+27T>G)
| dbSNP |
| 19 | g.35849210T>A | CA9390635 | NPHS1 | c.840+26A>T (n.840+26A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849210T>C | CA2581381289 | NPHS1 | c.840+26A>G (n.840+26A>G)
| |
| 19 | g.35849210T>G | CA2581381290 | NPHS1 | c.840+26A>C (n.840+26A>C)
| gnomAD v4 |
| 19 | g.35849210T= | CA2333850784 | NPHS1 | c.840+26A= (n.840+26A=)
| |
| 19 | g.35849212C>T | CA2576758970 | NPHS1 | c.840+24G>A (n.840+24G>A)
| |
| 19 | g.35849215del | CA2584603909 | NPHS1 | c.840+24del (n.840+24del)
| gnomAD v4 |
| 19 | g.35849213C= | CA2333850785 | NPHS1 | c.840+23G= (n.840+23G=)
| |
| 19 | g.35849213C>T | CA9390636 | NPHS1 | c.840+23G>A (n.840+23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849215_35849216insCAAACACACCCAACAC | CA2814252623 | NPHS1 | c.840+21_840+22insTGTTGGGTGTGTTTGG (n.840+21_840+22insTGTTGGGTGTGTTTGG)
| |
| 19 | g.35849216A>C | CA2584603910 | NPHS1 | c.840+20T>G (n.840+20T>G)
| gnomAD v4 |
| 19 | g.35849216A>T | CA2736059499 | NPHS1 | c.840+20T>A (n.840+20T>A)
| dbSNP |
| 19 | g.35849217T>C | CA2739276690 | NPHS1 | c.840+19A>G (n.840+19A>G)
| ClinVar |
| 19 | g.35849218G>A | CA2584603911 | NPHS1 | c.840+18C>T (n.840+18C>T)
| gnomAD v4 |
| 19 | g.35849219C>A | CA2739276691 | NPHS1 | c.840+17G>T (n.840+17G>T)
| ClinVar |
| 19 | g.35849219C= | CA2333850786 | NPHS1 | c.840+17G= (n.840+17G=)
| |
| 19 | g.35849219C>G | CA2584603912 | NPHS1 | c.840+17G>C (n.840+17G>C)
| gnomAD v4 |
| 19 | g.35849219C>T | CA633061075 | NPHS1 | c.840+17G>A (n.840+17G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849220C>T | CA2576758971 | NPHS1 | c.840+16G>A (n.840+16G>A)
| gnomAD v4 |
| 19 | g.35849221C= | CA2333850787 | NPHS1 | c.840+15G= (n.840+15G=)
| |
| 19 | g.35849221C>T | CA9390637 | NPHS1 | c.840+15G>A (n.840+15G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849222G>A | CA307787927 | NPHS1 | c.840+14C>T (n.840+14C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849222G= | CA2333850788 | NPHS1 | c.840+14C= (n.840+14C=)
| |
| 19 | g.35849223C= | CA2333850789 | NPHS1 | c.840+13G= (n.840+13G=)
| |
| 19 | g.35849223C>T | CA9390638 | NPHS1 | c.840+13G>A (n.840+13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849223_35849224delinsCG | CA2333850790 | NPHS1 | c.840+12_840+13delinsCG (n.840+12_840+13delinsCG)
| |
| 19 | g.35849224del | CA881820636 | NPHS1 | c.840+12del (n.840+12del)
| dbSNP |
| 19 | g.35849224G>A | CA9390639 | NPHS1 | c.840+12C>T (n.840+12C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849224G= | CA2333850791 | NPHS1 | c.840+12C= (n.840+12C=)
| |
| 19 | g.35849224_35849225delinsGT | CA2333850792 | NPHS1 | c.840+11_840+12delinsAC (n.840+11_840+12delinsAC)
| |
| 19 | g.35849227del | CA633061076 | NPHS1 | c.840+11del (n.840+11del)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849227T>C | CA2584603913 | NPHS1 | c.840+9A>G (n.840+9A>G)
| gnomAD v4 |
| 19 | g.35849227T>G | CA2499225454 | NPHS1 | c.840+9A>C (n.840+9A>C)
| ClinVar dbSNP |
| 19 | g.35849228G>C | CA2576758972 | NPHS1 | c.840+8C>G (n.840+8C>G)
| |
| 19 | g.35849228G= | CA2333850793 | NPHS1 | c.840+8C= (n.840+8C=)
| |
| 19 | g.35849229C= | CA2333850794 | NPHS1 | c.840+7G= (n.840+7G=)
| |
| 19 | g.35849231dup | CA9390640 | NPHS1 | c.840+7dup (n.840+7dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849230C>A | CA881820645 | NPHS1 | c.840+6G>T (n.840+6G>T)
| dbSNP |
| 19 | g.35849230C= | CA2333850795 | NPHS1 | c.840+6G= (n.840+6G=)
| |
| 19 | g.35849230C>T | CA9390642 | NPHS1 | c.840+6G>A (n.840+6G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849230_35849254dup | CA9390641 | NPHS1 | c.822_840+6dup
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849231C= | CA2333850796 | NPHS1 | c.840+5G= (n.840+5G=)
| |
| 19 | g.35849231C>G | CA9390643 | NPHS1 | c.840+5G>C (n.840+5G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849231C>T | CA2584603914 | NPHS1 | c.840+5G>A (n.840+5G>A)
| gnomAD v4 |
| 19 | g.35849232T>C | CA2584603915 | NPHS1 | c.840+4A>G (n.840+4A>G)
| gnomAD v4 |
| 19 | g.35849234A= | CA2333850797 | NPHS1 | c.840+2T= (n.840+2T=)
| |
| 19 | g.35849234A>C | CA405406984 | NPHS1 | c.840+2T>G (n.840+2T>G)
| dbSNP |
| 19 | g.35849234A>G | CA405406985 | NPHS1 | c.840+2T>C (n.840+2T>C)
| |
| 19 | g.35849234A>T | CA405406986 | NPHS1 | c.840+2T>A (n.840+2T>A)
| |
| 19 | g.35849235C>A | CA405406988 | NPHS1 | c.840+1G>T (n.840+1G>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849235C= | CA2333850798 | NPHS1 | c.840+1G= (n.840+1G=)
| |
| 19 | g.35849235C>G | CA405406989 | NPHS1 | c.840+1G>C (n.840+1G>C)
| |
| 19 | g.35849235C>T | CA405406987 | NPHS1 | c.840+1G>A (n.840+1G>A)
| |
| 19 | g.35849236C>A | CA405406990 | NPHS1 | c.840G>T (p.Lys280Asn)
| |
| 19 | g.35849236C= | CA2333850799 | NPHS1 | c.840G= (p.Lys280=)
| |
| 19 | g.35849236C>G | CA307787970 | NPHS1 | c.840G>C (p.Lys280Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849236C>T | CA507314541 | NPHS1 | c.840G>A (p.Lys280=)
| dbSNP |
| 19 | g.35849237T>A | CA405406991 | NPHS1 | c.839A>T (p.Lys280Met)
| |
| 19 | g.35849237T>C | CA9390644 | NPHS1 | c.839A>G (p.Lys280Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849237T>G | CA405406992 | NPHS1 | c.839A>C (p.Lys280Thr)
| |
| 19 | g.35849237T= | CA2333850800 | NPHS1 | c.839A= (p.Lys280=)
| |
| 19 | g.35849238T>A | CA405406993 | NPHS1 | c.838A>T (p.Lys280Ter)
| |
| 19 | g.35849238T>C | CA405406994 | NPHS1 | c.838A>G (p.Lys280Glu)
| |
| 19 | g.35849238T>G | CA405406995 | NPHS1 | c.838A>C (p.Lys280Gln)
| |
| 19 | g.35849239C>A | CA507314544 | NPHS1 | c.837G>T (p.Leu279=)
| |
| 19 | g.35849239C= | CA2333850801 | NPHS1 | c.837G= (p.Leu279=)
| |
| 19 | g.35849239C>G | CA507314545 | NPHS1 | c.837G>C (p.Leu279=)
| |
| 19 | g.35849239C>T | CA9390645 | NPHS1 | c.837G>A (p.Leu279=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849240A>C | CA405406996 | NPHS1 | c.836T>G (p.Leu279Arg)
| |
| 19 | g.35849240A>G | CA405406997 | NPHS1 | c.836T>C (p.Leu279Pro)
| gnomAD v4 |
| 19 | g.35849240A>T | CA405406998 | NPHS1 | c.836T>A (p.Leu279Gln)
| |
| 19 | g.35849241G>A | CA507314546 | NPHS1 | c.835C>T (p.Leu279=)
| |
| 19 | g.35849241G>C | CA405407000 | NPHS1 | c.835C>G (p.Leu279Val)
| |
| 19 | g.35849241G>T | CA405406999 | NPHS1 | c.835C>A (p.Leu279Met)
| |
| 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 |
