| 1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?)
| ClinVar |
| 1 | g.179575751_179575814del | CA2649317013 | NPHS2 | c.56_119del (p.Thr19ArgfsTer?)
| gnomAD v4 |
| 1 | g.179575761_179575829del | CA2649317014 | NPHS2 | c.45_113del (p.Gly16_Arg38del)
| gnomAD v4 |
| 1 | g.179575761_179575830del | CA2649317016 | NPHS2 | c.37_106del (p.Arg13AlafsTer?)
| gnomAD v4 |
| 1 | g.179575798_179575800del | CA658822859 | NPHS2 | c.67_69del (p.Glu23del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575799C>A | CA343554215 | NPHS2 | c.66G>T (p.Lys22Asn)
| gnomAD v4 |
| 1 | g.179575799C= | CA1210326741 | NPHS2 | c.66G= (p.Lys22=)
| |
| 1 | g.179575799C>G | CA1267334 | NPHS2 | c.66G>C (p.Lys22Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575799C>T | CA421997705 | NPHS2 | c.66G>A (p.Lys22=)
| ClinVar gnomAD v4 |
| 1 | g.179575800T>A | CA343554220 | NPHS2 | c.65A>T (p.Lys22Met)
| gnomAD v4 |
| 1 | g.179575800T>C | CA343554223 | NPHS2 | c.65A>G (p.Lys22Arg)
| gnomAD v4 |
| 1 | g.179575800T>G | CA343554225 | NPHS2 | c.65A>C (p.Lys22Thr)
| |
| 1 | g.179575801T>A | CA343554230 | NPHS2 | c.64A>T (p.Lys22Ter)
| gnomAD v4 |
| 1 | g.179575801T>C | CA343554232 | NPHS2 | c.64A>G (p.Lys22Glu)
| gnomAD v4 |
| 1 | g.179575801T>G | CA343554231 | NPHS2 | c.64A>C (p.Lys22Gln)
| |
| 1 | g.179575802G>A | CA421997728 | NPHS2 | c.63C>T (p.His21=)
| gnomAD v4 |
| 1 | g.179575802G>C | CA343554233 | NPHS2 | c.63C>G (p.His21Gln)
| |
| 1 | g.179575802G>T | CA343554235 | NPHS2 | c.63C>A (p.His21Gln)
| gnomAD v4 |
| 1 | g.179575802dup | CA2695199925 | NPHS2 | c.63dup (p.Lys22GlnfsTer?)
| ClinVar |
| 1 | g.179575802_179575803insC | CA2580061522 | NPHS2 | c.62_63insG (p.His21GlnfsTer?)
| ClinVar |
| 1 | g.179575803T>A | CA343554237 | NPHS2 | c.62A>T (p.His21Leu)
| |
| 1 | g.179575803T>C | CA343554239 | NPHS2 | c.62A>G (p.His21Arg)
| gnomAD v4 |
| 1 | g.179575803T>G | CA343554241 | NPHS2 | c.62A>C (p.His21Pro)
| |
| 1 | g.179575804G>A | CA343554250 | NPHS2 | c.61C>T (p.His21Tyr)
| gnomAD v4 |
| 1 | g.179575804G>C | CA343554247 | NPHS2 | c.61C>G (p.His21Asp)
| |
| 1 | g.179575804G>T | CA343554245 | NPHS2 | c.61C>A (p.His21Asn)
| gnomAD v4 |
| 1 | g.179575805del | CA2649317027 | NPHS2 | c.60del (p.His21ThrfsTer?)
| gnomAD v4 |
| 1 | g.179575805C>A | CA421997756 | NPHS2 | c.60G>T (p.Pro20=)
| gnomAD v4 |
| 1 | g.179575805C>G | CA421997762 | NPHS2 | c.60G>C (p.Pro20=)
| |
| 1 | g.179575805C>T | CA421997765 | NPHS2 | c.60G>A (p.Pro20=)
| gnomAD v4 |
| 1 | g.179575806G>A | CA117451 | NPHS2 | c.59C>T (p.Pro20Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575806G>C | CA343554257 | NPHS2 | c.59C>G (p.Pro20Arg)
| gnomAD v4 |
| 1 | g.179575806G= | CA1140886943 | NPHS2 | c.59C= (p.Pro20=)
| |
| 1 | g.179575806G>T | CA343554259 | NPHS2 | c.59C>A (p.Pro20Gln)
| gnomAD v4 |
| 1 | g.179575807G>A | CA343554260 | NPHS2 | c.58C>T (p.Pro20Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575807G>C | CA343554262 | NPHS2 | c.58C>G (p.Pro20Ala)
| |
| 1 | g.179575807G= | CA1210326742 | NPHS2 | c.58C= (p.Pro20=)
| |
| 1 | g.179575807G>T | CA343554264 | NPHS2 | c.58C>A (p.Pro20Thr)
| gnomAD v4 |
| 1 | g.179575808A= | CA1210326743 | NPHS2 | c.57T= (p.Thr19=)
| |
| 1 | g.179575808A>C | CA421997794 | NPHS2 | c.57T>G (p.Thr19=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575808A>G | CA421997797 | NPHS2 | c.57T>C (p.Thr19=)
| ClinVar gnomAD v4 |
| 1 | g.179575808A>T | CA421997799 | NPHS2 | c.57T>A (p.Thr19=)
| |
| 1 | g.179575809G>A | CA343554266 | NPHS2 | c.56C>T (p.Thr19Ile)
| gnomAD v4 |
| 1 | g.179575809G>C | CA343554275 | NPHS2 | c.56C>G (p.Thr19Ser)
| |
| 1 | g.179575809G>T | CA343554268 | NPHS2 | c.56C>A (p.Thr19Asn)
| gnomAD v4 |
| 1 | g.179575810T>A | CA343554277 | NPHS2 | c.55A>T (p.Thr19Ser)
| |
| 1 | g.179575810T>C | CA343554278 | NPHS2 | c.55A>G (p.Thr19Ala)
| gnomAD v4 |
| 1 | g.179575810T>G | CA343554280 | NPHS2 | c.55A>C (p.Thr19Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575810T= | CA1210326744 | NPHS2 | c.55A= (p.Thr19=)
| |
| 1 | g.179575811C>A | CA343554284 | NPHS2 | c.54G>T (p.Arg18Ser)
| gnomAD v4 |
| 1 | g.179575811C>G | CA343554286 | NPHS2 | c.54G>C (p.Arg18Ser)
| gnomAD v4 |
| 1 | g.179575811C>T | CA421998630 | NPHS2 | c.54G>A (p.Arg18=)
| gnomAD v4 |
| 1 | g.179575812C>A | CA343554289 | NPHS2 | c.53G>T (p.Arg18Met)
| gnomAD v4 |
| 1 | g.179575812C>G | CA343554291 | NPHS2 | c.53G>C (p.Arg18Thr)
| gnomAD v4 |
| 1 | g.179575812C>T | CA343554294 | NPHS2 | c.53G>A (p.Arg18Lys)
| gnomAD v4 |
| 1 | g.179575813T>A | CA343554299 | NPHS2 | c.52A>T (p.Arg18Trp)
| gnomAD v4 |
| 1 | g.179575813T>C | CA343554301 | NPHS2 | c.52A>G (p.Arg18Gly)
| gnomAD v4 |
| 1 | g.179575813T>G | CA421998656 | NPHS2 | c.52A>C (p.Arg18=)
| |
| 1 | g.179575814G>A | CA421998660 | NPHS2 | c.51C>T (p.Gly17=)
| dbSNP gnomAD v4 |
| 1 | g.179575814G>C | CA421998669 | NPHS2 | c.51C>G (p.Gly17=)
| gnomAD v4 |
| 1 | g.179575814G= | CA1210326745 | NPHS2 | c.51C= (p.Gly17=)
| |
| 1 | g.179575814G>T | CA421998671 | NPHS2 | c.51C>A (p.Gly17=)
| gnomAD v4 |
| 1 | g.179575815C>A | CA343554304 | NPHS2 | c.50G>T (p.Gly17Val)
| gnomAD v4 |
| 1 | g.179575815C>G | CA343554309 | NPHS2 | c.50G>C (p.Gly17Ala)
| |
| 1 | g.179575815C>T | CA343554306 | NPHS2 | c.50G>A (p.Gly17Asp)
| gnomAD v4 |
| 1 | g.179575816C>A | CA343554311 | NPHS2 | c.49G>T (p.Gly17Cys)
| gnomAD v4 |
| 1 | g.179575816C>G | CA343554314 | NPHS2 | c.49G>C (p.Gly17Arg)
| gnomAD v4 |
| 1 | g.179575816C>T | CA343554312 | NPHS2 | c.49G>A (p.Gly17Ser)
| gnomAD v4 |
| 1 | g.179575817del | CA2649317028 | NPHS2 | c.48del (p.Gly17AlafsTer?)
| gnomAD v4 |
| 1 | g.179575817G>A | CA421998685 | NPHS2 | c.48C>T (p.Gly16=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575817G>C | CA421998689 | NPHS2 | c.48C>G (p.Gly16=)
| |
| 1 | g.179575817G= | CA1210326746 | NPHS2 | c.48C= (p.Gly16=)
| |
| 1 | g.179575817G>T | CA421998691 | NPHS2 | c.48C>A (p.Gly16=)
| gnomAD v4 |
| 1 | g.179575818C>A | CA343554316 | NPHS2 | c.47G>T (p.Gly16Val)
| gnomAD v4 |
| 1 | g.179575818C>G | CA343554317 | NPHS2 | c.47G>C (p.Gly16Ala)
| gnomAD v4 |
| 1 | g.179575818C>T | CA343554320 | NPHS2 | c.47G>A (p.Gly16Asp)
| gnomAD v4 |
| 1 | g.179575819C>A | CA33654107 | NPHS2 | c.46G>T (p.Gly16Cys)
| dbSNP gnomAD v4 |
| 1 | g.179575819C= | CA1210326747 | NPHS2 | c.46G= (p.Gly16=)
| |
| 1 | g.179575819C>G | CA343554325 | NPHS2 | c.46G>C (p.Gly16Arg)
| gnomAD v4 |
| 1 | g.179575819C>T | CA343554327 | NPHS2 | c.46G>A (p.Gly16Ser)
| gnomAD v4 |
| 1 | g.179575820T>A | CA421998707 | NPHS2 | c.45A>T (p.Arg15=)
| gnomAD v4 |
| 1 | g.179575820T>C | CA421998711 | NPHS2 | c.45A>G (p.Arg15=)
| gnomAD v4 |
| 1 | g.179575820T>G | CA421998710 | NPHS2 | c.45A>C (p.Arg15=)
| |
| 1 | g.179575821C>A | CA343554329 | NPHS2 | c.44G>T (p.Arg15Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575821C= | CA1210326748 | NPHS2 | c.44G= (p.Arg15=)
| |
| 1 | g.179575821C>G | CA343554331 | NPHS2 | c.44G>C (p.Arg15Pro)
| |
| 1 | g.179575821C>T | CA343554334 | NPHS2 | c.44G>A (p.Arg15Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575822_179575823del | CA2649317029 | NPHS2 | c.43_44del (p.Gly16ArgfsTer?)
| gnomAD v4 |
| 1 | g.179575822G>A | CA343554335 | NPHS2 | c.43C>T (p.Arg15Ter)
| dbSNP gnomAD v4 |
| 1 | g.179575822G>C | CA343554338 | NPHS2 | c.43C>G (p.Arg15Gly)
| |
| 1 | g.179575822G= | CA1210326749 | NPHS2 | c.43C= (p.Arg15=)
| |
| 1 | g.179575822G>T | CA421998719 | NPHS2 | c.43C>A (p.Arg15=)
| gnomAD v4 |
| 1 | g.179575823C>A | CA421998720 | NPHS2 | c.42G>T (p.Gly14=)
| gnomAD v4 |
| 1 | g.179575823C= | CA1210326750 | NPHS2 | c.42G= (p.Gly14=)
| |
| 1 | g.179575823C>G | CA421998722 | NPHS2 | c.42G>C (p.Gly14=)
| dbSNP gnomAD v4 |
| 1 | g.179575823C>T | CA421998725 | NPHS2 | c.42G>A (p.Gly14=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.179575825del | CA2586967770 | NPHS2 | c.42del (p.Arg15GlufsTer?)
| gnomAD v4 |
| 1 | g.179575824C>A | CA343554346 | NPHS2 | c.41G>T (p.Gly14Val)
| gnomAD v4 |
| 1 | g.179575824C>G | CA343554344 | NPHS2 | c.41G>C (p.Gly14Ala)
| |
| 1 | g.179575824C>T | CA343554341 | NPHS2 | c.41G>A (p.Gly14Glu)
| gnomAD v4 |
| 1 | g.179575825C>A | CA343554349 | NPHS2 | c.40G>T (p.Gly14Trp)
| gnomAD v4 |
| 1 | g.179575825C= | CA1210326751 | NPHS2 | c.40G= (p.Gly14=)
| |
| 1 | g.179575825C>G | CA343554351 | NPHS2 | c.40G>C (p.Gly14Arg)
| |
| 1 | g.179575825C>T | CA33654123 | NPHS2 | c.40G>A (p.Gly14Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575826del | CA2649317030 | NPHS2 | c.39del (p.Arg15GlufsTer?)
| gnomAD v4 |
| 1 | g.179575826G>A | CA421998751 | NPHS2 | c.39C>T (p.Arg13=)
| gnomAD v4 |
| 1 | g.179575826G>C | CA421998754 | NPHS2 | c.39C>G (p.Arg13=)
| |
| 1 | g.179575826G>T | CA421998758 | NPHS2 | c.39C>A (p.Arg13=)
| gnomAD v4 |
| 1 | g.179575827C>A | CA1267335 | NPHS2 | c.38G>T (p.Arg13Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575827C= | CA1147048817 | NPHS2 | c.38G= (p.Arg13=)
| |
| 1 | g.179575827C>G | CA343554354 | NPHS2 | c.38G>C (p.Arg13Pro)
| gnomAD v4 |
| 1 | g.179575827C>T | CA343554355 | NPHS2 | c.38G>A (p.Arg13His)
| gnomAD v4 COSMIC |
| 1 | g.179575828G>A | CA343554356 | NPHS2 | c.37C>T (p.Arg13Cys)
| gnomAD v4 |
| 1 | g.179575828G>C | CA343554358 | NPHS2 | c.37C>G (p.Arg13Gly)
| gnomAD v4 |
| 1 | g.179575828G= | CA1210326752 | NPHS2 | c.37C= (p.Arg13=)
| |
| 1 | g.179575828G>T | CA33654125 | NPHS2 | c.37C>A (p.Arg13Ser)
| dbSNP gnomAD v4 |
| 1 | g.179575829G>A | CA421998779 | NPHS2 | c.36C>T (p.Ser12=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575829G>C | CA421998782 | NPHS2 | c.36C>G (p.Ser12=)
| gnomAD v4 |
| 1 | g.179575829G= | CA1210326753 | NPHS2 | c.36C= (p.Ser12=)
| |
| 1 | g.179575829G>T | CA421998785 | NPHS2 | c.36C>A (p.Ser12=)
| gnomAD v4 |
| 1 | g.179575830G>A | CA343554360 | NPHS2 | c.35C>T (p.Ser12Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575830G>C | CA343554362 | NPHS2 | c.35C>G (p.Ser12Cys)
| |
| 1 | g.179575830G>T | CA343554364 | NPHS2 | c.35C>A (p.Ser12Tyr)
| gnomAD v4 |
| 1 | g.179575831A>C | CA343554371 | NPHS2 | c.34T>G (p.Ser12Ala)
| gnomAD v4 |
| 1 | g.179575831A>G | CA343554369 | NPHS2 | c.34T>C (p.Ser12Pro)
| |
| 1 | g.179575831A>T | CA343554367 | NPHS2 | c.34T>A (p.Ser12Thr)
| |
| 1 | g.179575832C>A | CA343554376 | NPHS2 | c.33G>T (p.Glu11Asp)
| gnomAD v4 |
| 1 | g.179575832C>G | CA343554375 | NPHS2 | c.33G>C (p.Glu11Asp)
| |
| 1 | g.179575832C>T | CA421998807 | NPHS2 | c.33G>A (p.Glu11=)
| gnomAD v4 |
| 1 | g.179575833T>A | CA343554378 | NPHS2 | c.32A>T (p.Glu11Val)
| |
| 1 | g.179575833T>C | CA343554380 | NPHS2 | c.32A>G (p.Glu11Gly)
| gnomAD v4 |
| 1 | g.179575833T>G | CA343554382 | NPHS2 | c.32A>C (p.Glu11Ala)
| |
| 1 | g.179575834C>A | CA343554384 | NPHS2 | c.31G>T (p.Glu11Ter)
| gnomAD v4 |
| 1 | g.179575834C= | CA1144671635 | NPHS2 | c.31G= (p.Glu11=)
| |
| 1 | g.179575834C>G | CA343554388 | NPHS2 | c.31G>C (p.Glu11Gln)
| gnomAD v4 |
| 1 | g.179575834C>T | CA33654130 | NPHS2 | c.31G>A (p.Glu11Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575836dup | CA2825000873 | NPHS2 | c.31dup (p.Glu11GlyfsTer?)
| ClinVar |
| 1 | g.179575836del | CA2649317032 | NPHS2 | c.31del (p.Glu11SerfsTer?)
| ClinVar gnomAD v4 |
| 1 | g.179575838_179575855del | CA2649317031 | NPHS2 | c.14_31del (p.Ala5_Arg10del)
| gnomAD v4 |
| 1 | g.179575835C>A | CA343554390 | NPHS2 | c.30G>T (p.Arg10Ser)
| gnomAD v4 |
| 1 | g.179575835C= | CA1210326754 | NPHS2 | c.30G= (p.Arg10=)
| |
| 1 | g.179575835C>G | CA1267336 | NPHS2 | c.30G>C (p.Arg10Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575835C>T | CA421998825 | NPHS2 | c.30G>A (p.Arg10=)
| gnomAD v4 |
| 1 | g.179575835_179575837del | CA2649317033 | NPHS2 | c.28_30del (p.Arg10del)
| gnomAD v4 |
| 1 | g.179575836C>A | CA343554392 | NPHS2 | c.29G>T (p.Arg10Met)
| gnomAD v4 |
| 1 | g.179575836C= | CA1210326755 | NPHS2 | c.29G= (p.Arg10=)
| |
| 1 | g.179575836C>G | CA33654147 | NPHS2 | c.29G>C (p.Arg10Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575836C>T | CA33654152 | NPHS2 | c.29G>A (p.Arg10Lys)
| dbSNP gnomAD v4 |
| 1 | g.179575837del | CA2649317034 | NPHS2 | c.28del (p.Arg10GlyfsTer?)
| gnomAD v4 |
| 1 | g.179575837T>A | CA343554393 | NPHS2 | c.28A>T (p.Arg10Trp)
| gnomAD v4 |
| 1 | g.179575837T>C | CA343554396 | NPHS2 | c.28A>G (p.Arg10Gly)
| gnomAD v4 |
| 1 | g.179575837T>G | CA421998839 | NPHS2 | c.28A>C (p.Arg10=)
| |
| 1 | g.179575837dup | CA658656977 | NPHS2 | c.28dup (p.Arg10LysfsTer?)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.179575838G>A | CA421998841 | NPHS2 | c.27C>T (p.Ser9=)
| gnomAD v4 |
| 1 | g.179575838G>C | CA421998846 | NPHS2 | c.27C>G (p.Ser9=)
| gnomAD v4 |
| 1 | g.179575838G>T | CA421998843 | NPHS2 | c.27C>A (p.Ser9=)
| gnomAD v4 |
| 1 | g.179575839del | CA2649317035 | NPHS2 | c.27del (p.Arg10GlyfsTer?)
| gnomAD v4 |
| 1 | g.179575839G>A | CA343554397 | NPHS2 | c.26C>T (p.Ser9Phe)
| gnomAD v4 |
| 1 | g.179575839G>C | CA343554399 | NPHS2 | c.26C>G (p.Ser9Cys)
| |
| 1 | g.179575839G>T | CA343554398 | NPHS2 | c.26C>A (p.Ser9Tyr)
| gnomAD v4 |
| 1 | g.179575839_179575845del | CA2649317036 | NPHS2 | c.20_26del (p.Ser7ThrfsTer?)
| gnomAD v4 |
| 1 | g.179575840A>C | CA343554400 | NPHS2 | c.25T>G (p.Ser9Ala)
| |
| 1 | g.179575840A>G | CA343554401 | NPHS2 | c.25T>C (p.Ser9Pro)
| gnomAD v4 |
| 1 | g.179575840A>T | CA343554402 | NPHS2 | c.25T>A (p.Ser9Thr)
| |
| 1 | g.179575841G>A | CA33654160 | NPHS2 | c.24C>T (p.Ser8=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575841G>C | CA421998873 | NPHS2 | c.24C>G (p.Ser8=)
| |
| 1 | g.179575841G= | CA1143525164 | NPHS2 | c.24C= (p.Ser8=)
| |
| 1 | g.179575841G>T | CA421998876 | NPHS2 | c.24C>A (p.Ser8=)
| gnomAD v4 |
| 1 | g.179575842G>A | CA343554404 | NPHS2 | c.23C>T (p.Ser8Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575842G>C | CA343554407 | NPHS2 | c.23C>G (p.Ser8Cys)
| |
| 1 | g.179575842G= | CA1210326756 | NPHS2 | c.23C= (p.Ser8=)
| |
| 1 | g.179575842G>T | CA343554409 | NPHS2 | c.23C>A (p.Ser8Tyr)
| gnomAD v4 |
| 1 | g.179575843A>C | CA343554410 | NPHS2 | c.22T>G (p.Ser8Ala)
| |
| 1 | g.179575843A>G | CA343554411 | NPHS2 | c.22T>C (p.Ser8Pro)
| gnomAD v4 |
| 1 | g.179575843A>T | CA343554413 | NPHS2 | c.22T>A (p.Ser8Thr)
| |
| 1 | g.179575844G>A | CA421998896 | NPHS2 | c.21C>T (p.Ser7=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.179575844G>C | CA343554415 | NPHS2 | c.21C>G (p.Ser7Arg)
| gnomAD v4 |
| 1 | g.179575844G= | CA1210326757 | NPHS2 | c.21C= (p.Ser7=)
| |
| 1 | g.179575844G>T | CA1267337 | NPHS2 | c.21C>A (p.Ser7Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575845C>A | CA343554418 | NPHS2 | c.20G>T (p.Ser7Ile)
| gnomAD v4 |
| 1 | g.179575845C>G | CA343554420 | NPHS2 | c.20G>C (p.Ser7Thr)
| |
| 1 | g.179575845C>T | CA343554417 | NPHS2 | c.20G>A (p.Ser7Asn)
| gnomAD v4 |
| 1 | g.179575846T>A | CA343554423 | NPHS2 | c.19A>T (p.Ser7Cys)
| |
| 1 | g.179575846T>C | CA343554425 | NPHS2 | c.19A>G (p.Ser7Gly)
| gnomAD v4 |
| 1 | g.179575846T>G | CA343554424 | NPHS2 | c.19A>C (p.Ser7Arg)
| |
| 1 | g.179575847C>A | CA421998927 | NPHS2 | c.18G>T (p.Arg6=)
| gnomAD v4 |
| 1 | g.179575847C= | CA1210326758 | NPHS2 | c.18G= (p.Arg6=)
| |
| 1 | g.179575847C>G | CA421998920 | NPHS2 | c.18G>C (p.Arg6=)
| gnomAD v4 |
| 1 | g.179575847C>T | CA421998923 | NPHS2 | c.18G>A (p.Arg6=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575848C>A | CA343554426 | NPHS2 | c.17G>T (p.Arg6Leu)
| gnomAD v4 |
| 1 | g.179575848C= | CA1210326759 | NPHS2 | c.17G= (p.Arg6=)
| |
| 1 | g.179575848C>G | CA343554427 | NPHS2 | c.17G>C (p.Arg6Pro)
| gnomAD v4 |
| 1 | g.179575848C>T | CA1267338 | NPHS2 | c.17G>A (p.Arg6Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575849G>A | CA343554429 | NPHS2 | c.16C>T (p.Arg6Trp)
| gnomAD v4 |
| 1 | g.179575849G>C | CA343554430 | NPHS2 | c.16C>G (p.Arg6Gly)
| dbSNP gnomAD v2 |
| 1 | g.179575849G= | CA1210326760 | NPHS2 | c.16C= (p.Arg6=)
| |
| 1 | g.179575849G>T | CA421998943 | NPHS2 | c.16C>A (p.Arg6=)
| gnomAD v4 |
| 1 | g.179575850C>A | CA421998948 | NPHS2 | c.15G>T (p.Ala5=)
| gnomAD v4 |
| 1 | g.179575850C>G | CA421998951 | NPHS2 | c.15G>C (p.Ala5=)
| |
| 1 | g.179575850C>T | CA421998954 | NPHS2 | c.15G>A (p.Ala5=)
| ClinVar gnomAD v4 COSMIC |
| 1 | g.179575851G>A | CA343554432 | NPHS2 | c.14C>T (p.Ala5Val)
| dbSNP gnomAD v4 |
| 1 | g.179575851G>C | CA343554433 | NPHS2 | c.14C>G (p.Ala5Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575851G= | CA1210326761 | NPHS2 | c.14C= (p.Ala5=)
| |
| 1 | g.179575851G>T | CA343554435 | NPHS2 | c.14C>A (p.Ala5Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575852C>A | CA343554437 | NPHS2 | c.13G>T (p.Ala5Ser)
| gnomAD v4 |
| 1 | g.179575852C>G | CA343554438 | NPHS2 | c.13G>C (p.Ala5Pro)
| gnomAD v4 |
| 1 | g.179575852C>T | CA343554440 | NPHS2 | c.13G>A (p.Ala5Thr)
| gnomAD v4 |
| 1 | g.179575854del | CA2649317037 | NPHS2 | c.13del (p.Ala5ArgfsTer?)
| gnomAD v4 |
| 1 | g.179575852_179575855delinsCCCT | CA1210326762 | NPHS2 | c.10_13delinsAGGG (p.Arg4=)
| |
| 1 | g.179575854_179575857del | CA913071837 | NPHS2 | c.10_13del (p.Ala5GlyfsTer?)
| |
| 1 | g.179575853C>A | CA343554443 | NPHS2 | c.12G>T (p.Arg4Ser)
| gnomAD v4 |
| 1 | g.179575853C= | CA1210326763 | NPHS2 | c.12G= (p.Arg4=)
| |
| 1 | g.179575853C>G | CA343554441 | NPHS2 | c.12G>C (p.Arg4Ser)
| |
| 1 | g.179575853C>T | CA421998979 | NPHS2 | c.12G>A (p.Arg4=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575857_179575859del | CA658822860 | NPHS2 | c.10_12del (p.Arg4del)
| ClinVar dbSNP |
| 1 | g.179575854C>A | CA343554445 | NPHS2 | c.11G>T (p.Arg4Met)
| gnomAD v4 |
| 1 | g.179575854C= | CA1210326764 | NPHS2 | c.11G= (p.Arg4=)
| |
| 1 | g.179575854C>G | CA343554447 | NPHS2 | c.11G>C (p.Arg4Thr)
| |
| 1 | g.179575854C>T | CA33654199 | NPHS2 | c.11G>A (p.Arg4Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575855T>A | CA343554448 | NPHS2 | c.10A>T (p.Arg4Trp)
| |
| 1 | g.179575855T>C | CA343554450 | NPHS2 | c.10A>G (p.Arg4Gly)
| gnomAD v4 |
| 1 | g.179575855T>G | CA421998999 | NPHS2 | c.10A>C (p.Arg4=)
| |
| 1 | g.179575856C>A | CA343554452 | NPHS2 | c.9G>T (p.Arg3Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575856C= | CA1210326765 | NPHS2 | c.9G= (p.Arg3=)
| |
| 1 | g.179575856C>G | CA343554454 | NPHS2 | c.9G>C (p.Arg3Ser)
| |
| 1 | g.179575856C>T | CA421999012 | NPHS2 | c.9G>A (p.Arg3=)
| gnomAD v4 |
| 1 | g.179575857C>A | CA343554455 | NPHS2 | c.8G>T (p.Arg3Met)
| gnomAD v4 |
| 1 | g.179575857C= | CA1210326766 | NPHS2 | c.8G= (p.Arg3=)
| |
| 1 | g.179575857C>G | CA343554456 | NPHS2 | c.8G>C (p.Arg3Thr)
| |
| 1 | g.179575857C>T | CA343554457 | NPHS2 | c.8G>A (p.Arg3Lys)
| dbSNP gnomAD v4 |
| 1 | g.179575858T>A | CA343554459 | NPHS2 | c.7A>T (p.Arg3Trp)
| |
| 1 | g.179575858T>C | CA343554461 | NPHS2 | c.7A>G (p.Arg3Gly)
| gnomAD v4 |
| 1 | g.179575858T>G | CA421999030 | NPHS2 | c.7A>C (p.Arg3=)
| |
| 1 | g.179575859C>A | CA1267339 | NPHS2 | c.6G>T (p.Glu2Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575859C= | CA1210326767 | NPHS2 | c.6G= (p.Glu2=)
| |
| 1 | g.179575859C>G | CA343554463 | NPHS2 | c.6G>C (p.Glu2Asp)
| |
| 1 | g.179575859C>T | CA421999042 | NPHS2 | c.6G>A (p.Glu2=)
| gnomAD v4 |
| 1 | g.179575860T>A | CA343554466 | NPHS2 | c.5A>T (p.Glu2Val)
| gnomAD v4 |
| 1 | g.179575860T>C | CA343554467 | NPHS2 | c.5A>G (p.Glu2Gly)
| gnomAD v4 |
| 1 | g.179575860T>G | CA343554468 | NPHS2 | c.5A>C (p.Glu2Ala)
| |
| 1 | g.179575861C>A | CA343554469 | NPHS2 | c.4G>T (p.Glu2Ter)
| gnomAD v4 |
| 1 | g.179575861C>G | CA343554470 | NPHS2 | c.4G>C (p.Glu2Gln)
| gnomAD v4 |
| 1 | g.179575861C>T | CA343554471 | NPHS2 | c.4G>A (p.Glu2Lys)
| gnomAD v4 |
| 1 | g.179575862del | CA2746821933 | NPHS2 | c.4del (p.Glu2ArgfsTer?)
| |
| 1 | g.179575862C>A | CA343554473 | NPHS2 | c.3G>T (p.Met1Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575862C= | CA1210326768 | NPHS2 | c.3G= (p.Met1=)
| |
| 1 | g.179575862C>G | CA343554475 | NPHS2 | c.3G>C (p.Met1Ile)
| dbSNP gnomAD v4 |
| 1 | g.179575862C>T | CA16040673 | NPHS2 | c.3G>A (p.Met1Ile)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.179575863A>C | CA343554477 | NPHS2 | c.2T>G (p.Met1Arg)
| |
| 1 | g.179575863A>G | CA343554479 | NPHS2 | c.2T>C (p.Met1Thr)
| gnomAD v4 |
| 1 | g.179575863A>T | CA343554480 | NPHS2 | c.2T>A (p.Met1Lys)
| |
| 1 | g.179575864T>A | CA343554484 | NPHS2 | c.1A>T (p.Met1Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.179575864T>C | CA343554485 | NPHS2 | c.1A>G (p.Met1Val)
| gnomAD v4 |
| 1 | g.179575864T>G | CA343554482 | NPHS2 | c.1A>C (p.Met1Leu)
| |
| 1 | g.179575865C>A | CA2649317038 | NPHS2 | c.-1G>T (n.-1G>T)
| gnomAD v4 |
| 1 | g.179575865C= | CA1210326769 | NPHS2 | c.-1G= (n.-1G=)
| |
| 1 | g.179575865C>T | CA527186817 | NPHS2 | c.-1G>A (n.-1G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575866C>A | CA2649317039 | NPHS2 | c.-2G>T (n.-2G>T)
| gnomAD v4 |
| 1 | g.179575866C>T | CA2649317040 | NPHS2 | c.-2G>A (n.-2G>A)
| gnomAD v4 |
| 1 | g.179575867T>A | CA2649317041 | NPHS2 | c.-3A>T (n.-3A>T)
| gnomAD v4 |
| 1 | g.179575867T>C | CA2649317042 | NPHS2 | c.-3A>G (n.-3A>G)
| gnomAD v4 |
| 1 | g.179575868C>A | CA2649317043 | NPHS2 | c.-4G>T (n.-4G>T)
| gnomAD v4 |
| 1 | g.179575868C>G | CA2649317044 | NPHS2 | c.-4G>C (n.-4G>C)
| gnomAD v4 |
| 1 | g.179575868C>T | CA2573958674 | NPHS2 | c.-4G>A (n.-4G>A)
| gnomAD v4 |
| 1 | g.179575869A>G | CA2573958764 | NPHS2 | c.-5T>C (n.-5T>C)
| gnomAD v4 |
| 1 | g.179575869A>T | CA2573958766 | NPHS2 | c.-5T>A (n.-5T>A)
| gnomAD v4 |
| 1 | g.179575870G>C | CA33654217 | NPHS2 | c.-6C>G (n.-6C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575870G= | CA1147233204 | NPHS2 | c.-6C= (n.-6C=)
| |
| 1 | g.179575870G>T | CA2649317045 | NPHS2 | c.-6C>A (n.-6C>A)
| gnomAD v4 |
| 1 | g.179575871A>G | CA2649317046 | NPHS2 | c.-7T>C (n.-7T>C)
| gnomAD v4 |
| 1 | g.179575872G>A | CA2649317048 | NPHS2 | c.-8C>T (n.-8C>T)
| gnomAD v4 |
| 1 | g.179575872G>T | CA2649317047 | NPHS2 | c.-8C>A (n.-8C>A)
| gnomAD v4 |
| 1 | g.179575873C>A | CA2649317050 | NPHS2 | c.-9G>T (n.-9G>T)
| gnomAD v4 |
| 1 | g.179575873C>T | CA2649317049 | NPHS2 | c.-9G>A (n.-9G>A)
| gnomAD v4 |
| 1 | g.179575874T>C | CA2649317051 | NPHS2 | c.-10A>G (n.-10A>G)
| gnomAD v4 |
| 1 | g.179575875G>A | CA2649317052 | NPHS2 | c.-11C>T (n.-11C>T)
| gnomAD v4 |
| 1 | g.179575875G>T | CA2649317053 | NPHS2 | c.-11C>A (n.-11C>A)
| gnomAD v4 |
| 1 | g.179575876C>A | CA2649317054 | NPHS2 | c.-12G>T (n.-12G>T)
| gnomAD v4 |
| 1 | g.179575876C>T | CA2649317055 | NPHS2 | c.-12G>A (n.-12G>A)
| gnomAD v4 |
| 1 | g.179575877C>A | CA2649317056 | NPHS2 | c.-13G>T (n.-13G>T)
| gnomAD v4 |
| 1 | g.179575877C= | CA1210326770 | NPHS2 | c.-13G= (n.-13G=)
| |
| 1 | g.179575877C>G | CA1267340 | NPHS2 | c.-13G>C (n.-13G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575877C>T | CA2649317057 | NPHS2 | c.-13G>A (n.-13G>A)
| gnomAD v4 |
| 1 | g.179575878G>A | CA2649317058 | NPHS2 | c.-14C>T (n.-14C>T)
| gnomAD v4 |
| 1 | g.179575878G>C | CA2649317060 | NPHS2 | c.-14C>G (n.-14C>G)
| gnomAD v4 |
| 1 | g.179575878G>T | CA2649317059 | NPHS2 | c.-14C>A (n.-14C>A)
| gnomAD v4 |
| 1 | g.179575879G>A | CA2649317061 | NPHS2 | c.-15C>T (n.-15C>T)
| gnomAD v4 |
| 1 | g.179575879G>T | CA2649317062 | NPHS2 | c.-15C>A (n.-15C>A)
| gnomAD v4 |
| 1 | g.179575880G>A | CA527186822 | NPHS2 | c.-16C>T (n.-16C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575880G= | CA1210326771 | NPHS2 | c.-16C= (n.-16C=)
| |
| 1 | g.179575880G>T | CA2649317063 | NPHS2 | c.-16C>A (n.-16C>A)
| gnomAD v4 |
| 1 | g.179575881C>A | CA2649317064 | NPHS2 | c.-17G>T (n.-17G>T)
| dbSNP gnomAD v4 |
| 1 | g.179575881C>G | CA2649317066 | NPHS2 | c.-17G>C (n.-17G>C)
| gnomAD v4 |
| 1 | g.179575881C>T | CA2649317065 | NPHS2 | c.-17G>A (n.-17G>A)
| gnomAD v4 |
| 1 | g.179575882G>A | CA527186824 | NPHS2 | c.-18C>T (n.-18C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575882G= | CA1210326772 | NPHS2 | c.-18C= (n.-18C=)
| |
| 1 | g.179575882G>T | CA2573958768 | NPHS2 | c.-18C>A (n.-18C>A)
| gnomAD v4 |
| 1 | g.179575883G>A | CA527186825 | NPHS2 | c.-19C>T (n.-19C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575883G= | CA1210326773 | NPHS2 | c.-19C= (n.-19C=)
| |
| 1 | g.179575883G>T | CA2649317067 | NPHS2 | c.-19C>A (n.-19C>A)
| gnomAD v4 |
| 1 | g.179575884C>A | CA2649317068 | NPHS2 | c.-20G>T (n.-20G>T)
| gnomAD v4 |
| 1 | g.179575884C= | CA1210326774 | NPHS2 | c.-20G= (n.-20G=)
| |
| 1 | g.179575884C>G | CA2649317069 | NPHS2 | c.-20G>C (n.-20G>C)
| gnomAD v4 |
| 1 | g.179575884C>T | CA527186826 | NPHS2 | c.-20G>A (n.-20G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575885T>C | CA2649317070 | NPHS2 | c.-21A>G (n.-21A>G)
| gnomAD v4 |
| 1 | g.179575886G>A | CA2649317071 | NPHS2 | c.-22C>T (n.-22C>T)
| gnomAD v4 |
| 1 | g.179575886G>T | CA2649317072 | NPHS2 | c.-22C>A (n.-22C>A)
| gnomAD v4 |
| 1 | g.179575887G>A | CA2649317075 | NPHS2 | c.-23C>T (n.-23C>T)
| gnomAD v4 |
| 1 | g.179575887G>C | CA2649317074 | NPHS2 | c.-23C>G (n.-23C>G)
| gnomAD v4 |
| 1 | g.179575887G>T | CA2649317073 | NPHS2 | c.-23C>A (n.-23C>A)
| gnomAD v4 |
| 1 | g.179575888A>G | CA2649317076 | NPHS2 | c.-24T>C (n.-24T>C)
| gnomAD v4 |
| 1 | g.179575888A>T | CA2649317077 | NPHS2 | c.-24T>A (n.-24T>A)
| gnomAD v4 |
| 1 | g.179575889G>A | CA2649317078 | NPHS2 | c.-25C>T (n.-25C>T)
| gnomAD v4 |
| 1 | g.179575889G>T | CA2649317079 | NPHS2 | c.-25C>A (n.-25C>A)
| gnomAD v4 |
| 1 | g.179575890C>A | CA1267341 | NPHS2 | c.-26G>T (n.-26G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575890C= | CA1141991113 | NPHS2 | c.-26G= (n.-26G=)
| |
| 1 | g.179575890C>G | CA1210326775 | NPHS2 | c.-26G>C (n.-26G>C)
| dbSNP |
| 1 | g.179575890C>T | CA2649317080 | NPHS2 | c.-26G>A (n.-26G>A)
| gnomAD v4 |
| 1 | g.179575891A>C | CA2649317081 | NPHS2 | c.-27T>G (n.-27T>G)
| gnomAD v4 |
| 1 | g.179575891A>T | CA2649317082 | NPHS2 | c.-27T>A (n.-27T>A)
| gnomAD v4 |
| 1 | g.179575892G>A | CA2649317083 | NPHS2 | c.-28C>T (n.-28C>T)
| gnomAD v4 |
| 1 | g.179575892G>C | CA2649317084 | NPHS2 | c.-28C>G (n.-28C>G)
| gnomAD v4 |
| 1 | g.179575892G>T | CA2649317085 | NPHS2 | c.-28C>A (n.-28C>A)
| gnomAD v4 |
| 1 | g.179575893C>A | CA2649317086 | NPHS2 | c.-29G>T (n.-29G>T)
| gnomAD v4 |
| 1 | g.179575893C>T | CA2649317087 | NPHS2 | c.-29G>A (n.-29G>A)
| gnomAD v4 |
| 1 | g.179575894A= | CA1210326777 | NPHS2 | c.-30T= (n.-30T=)
| |
| 1 | g.179575894A>G | CA2649317088 | NPHS2 | c.-30T>C (n.-30T>C)
| gnomAD v4 |
| 1 | g.179575894A>T | CA1210326776 | NPHS2 | c.-30T>A (n.-30T>A)
| dbSNP gnomAD v4 |
| 1 | g.179575894_179575896delinsAGC | CA1210326778 | NPHS2 | c.-32_-30delinsGCT (n.-32_-30delinsGCT)
| |
| 1 | g.179575895G>A | CA2649317089 | NPHS2 | c.-31C>T (n.-31C>T)
| gnomAD v4 |
| 1 | g.179575895G>T | CA2649317090 | NPHS2 | c.-31C>A (n.-31C>A)
| gnomAD v4 |
| 1 | g.179575898_179575899del | CA891826799 | NPHS2 | c.-32_-31del (n.-32_-31del)
| dbSNP |
| 1 | g.179575897_179575913dup | CA527186829 | NPHS2 | c.-47_-31dup (n.-47_-31dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575896C>A | CA2649317091 | NPHS2 | c.-32G>T (n.-32G>T)
| gnomAD v4 |
| 1 | g.179575896C>T | CA2649317092 | NPHS2 | c.-32G>A (n.-32G>A)
| gnomAD v4 |
| 1 | g.179575897G>A | CA2649317093 | NPHS2 | c.-33C>T (n.-33C>T)
| gnomAD v4 |
| 1 | g.179575897G>T | CA2649317094 | NPHS2 | c.-33C>A (n.-33C>A)
| gnomAD v4 |
| 1 | g.179575897_179575914delinsGCGGGAGCGCTAGGGGCA | CA1210326779 | NPHS2 | c.-50_-33delinsTGCCCCTAGCGCTCCCGC (n.-50_-33delinsTGCCCCTAGCGCTCCCGC)
| |
| 1 | g.179575898C>A | CA2649317095 | NPHS2 | c.-34G>T (n.-34G>T)
| gnomAD v4 |
| 1 | g.179575898C>T | CA2649317096 | NPHS2 | c.-34G>A (n.-34G>A)
| gnomAD v4 |
| 1 | g.179575907_179575923del | CA33654237 | NPHS2 | c.-50_-34del (n.-50_-34del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575899G>A | CA2573958792 | NPHS2 | c.-35C>T (n.-35C>T)
| gnomAD v4 |
| 1 | g.179575899G>T | CA2649317098 | NPHS2 | c.-35C>A (n.-35C>A)
| gnomAD v4 |
| 1 | g.179575901del | CA2649317097 | NPHS2 | c.-35del (n.-35del)
| gnomAD v4 |
