1 | g.179575662T>A | CA343553024 | NPHS2 | c.203A>T (p.Asp68Val)
| |
1 | g.179575662T>C | CA343553020 | NPHS2 | c.203A>G (p.Asp68Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575662T>G | CA343553014 | NPHS2 | c.203A>C (p.Asp68Ala)
| |
1 | g.179575662T= | CA1210326662 | NPHS2 | c.203A= (p.Asp68=)
| |
1 | g.179575663C>A | CA343553028 | NPHS2 | c.202G>T (p.Asp68Tyr)
| |
1 | g.179575663C>G | CA343553030 | NPHS2 | c.202G>C (p.Asp68His)
| |
1 | g.179575663C>T | CA343553033 | NPHS2 | c.202G>A (p.Asp68Asn)
| |
1 | g.179575664C>A | CA421996214 | NPHS2 | c.201G>T (p.Val67=)
| gnomAD v4 |
1 | g.179575664C>G | CA421996217 | NPHS2 | c.201G>C (p.Val67=)
| |
1 | g.179575664C>T | CA421996221 | NPHS2 | c.201G>A (p.Val67=)
| |
1 | g.179575665A>C | CA343553035 | NPHS2 | c.200T>G (p.Val67Gly)
| |
1 | g.179575665A>G | CA343553040 | NPHS2 | c.200T>C (p.Val67Ala)
| |
1 | g.179575665A>T | CA343553045 | NPHS2 | c.200T>A (p.Val67Glu)
| |
1 | g.179575666C>A | CA343553048 | NPHS2 | c.199G>T (p.Val67Leu)
| |
1 | g.179575666C= | CA1210326663 | NPHS2 | c.199G= (p.Val67=)
| |
1 | g.179575666C>G | CA343553051 | NPHS2 | c.199G>C (p.Val67Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575666C>T | CA343553055 | NPHS2 | c.199G>A (p.Val67Met)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575667G>A | CA421996232 | NPHS2 | c.198C>T (p.Asp66=)
| gnomAD v4 |
1 | g.179575667G>C | CA343553062 | NPHS2 | c.198C>G (p.Asp66Glu)
| |
1 | g.179575667G= | CA1210326664 | NPHS2 | c.198C= (p.Asp66=)
| |
1 | g.179575667G>T | CA343553066 | NPHS2 | c.198C>A (p.Asp66Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575668T>A | CA343553081 | NPHS2 | c.197A>T (p.Asp66Val)
| |
1 | g.179575668T>C | CA343553078 | NPHS2 | c.197A>G (p.Asp66Gly)
| gnomAD v4 |
1 | g.179575668T>G | CA343553075 | NPHS2 | c.197A>C (p.Asp66Ala)
| |
1 | g.179575668_179575671del | CA913071834 | NPHS2 | c.194_197del (p.Val65AlafsTer?)
| |
1 | g.179575668_179575671delinsTCCA | CA1210326665 | NPHS2 | c.194_197delinsTGGA (p.Val65=)
| |
1 | g.179575669C>A | CA343553082 | NPHS2 | c.196G>T (p.Asp66Tyr)
| gnomAD v4 |
1 | g.179575669C= | CA1210326666 | NPHS2 | c.196G= (p.Asp66=)
| |
1 | g.179575669C>G | CA343553085 | NPHS2 | c.196G>C (p.Asp66His)
| |
1 | g.179575669C>T | CA1267298 | NPHS2 | c.196G>A (p.Asp66Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575670del | CA2649317005 | NPHS2 | c.196del (p.Asp66ThrfsTer?)
| gnomAD v4 |
1 | g.179575674_179575676del | CA658822856 | NPHS2 | c.194_196del (p.Val65del)
| ClinVar dbSNP |
1 | g.179575670C>A | CA421996255 | NPHS2 | c.195G>T (p.Val65=)
| |
1 | g.179575670C>G | CA421996256 | NPHS2 | c.195G>C (p.Val65=)
| |
1 | g.179575670C>T | CA421996257 | NPHS2 | c.195G>A (p.Val65=)
| |
1 | g.179575671A>C | CA343553088 | NPHS2 | c.194T>G (p.Val65Gly)
| |
1 | g.179575671A>G | CA343553092 | NPHS2 | c.194T>C (p.Val65Ala)
| gnomAD v4 |
1 | g.179575671A>T | CA343553095 | NPHS2 | c.194T>A (p.Val65Glu)
| |
1 | g.179575672C>A | CA343553106 | NPHS2 | c.193G>T (p.Val65Leu)
| |
1 | g.179575672C= | CA1210326667 | NPHS2 | c.193G= (p.Val65=)
| |
1 | g.179575672C>G | CA343553109 | NPHS2 | c.193G>C (p.Val65Leu)
| |
1 | g.179575672C>T | CA343553112 | NPHS2 | c.193G>A (p.Val65Met)
| dbSNP gnomAD v4 |
1 | g.179575673_179575674insCCCCCCCAAACACACCC | CA2746821924 | NPHS2 | c.193_194insGTGTGTTTGGGGGGGGG (p.Val65GlyfsTer?)
| |
1 | g.179575673C>A | CA421996275 | NPHS2 | c.192G>T (p.Val64=)
| |
1 | g.179575673C>G | CA421996283 | NPHS2 | c.192G>C (p.Val64=)
| |
1 | g.179575673C>T | CA421996278 | NPHS2 | c.192G>A (p.Val64=)
| |
1 | g.179575674_179575675del | CA2582342427 | NPHS2 | c.191_192del (p.Val64GlyfsTer5)
| ClinVar |
1 | g.179575674A>C | CA343553122 | NPHS2 | c.191T>G (p.Val64Gly)
| |
1 | g.179575674A>G | CA343553124 | NPHS2 | c.191T>C (p.Val64Ala)
| |
1 | g.179575674A>T | CA343553137 | NPHS2 | c.191T>A (p.Val64Glu)
| |
1 | g.179575675C>A | CA343553146 | NPHS2 | c.190G>T (p.Val64Leu)
| |
1 | g.179575675C= | CA1210326668 | NPHS2 | c.190G= (p.Val64=)
| |
1 | g.179575675C>G | CA343553158 | NPHS2 | c.190G>C (p.Val64Leu)
| |
1 | g.179575675C>T | CA343553142 | NPHS2 | c.190G>A (p.Val64Met)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575676C>A | CA421996309 | NPHS2 | c.189G>T (p.Thr63=)
| gnomAD v4 |
1 | g.179575676C= | CA1210326669 | NPHS2 | c.189G= (p.Thr63=)
| |
1 | g.179575676C>G | CA421996311 | NPHS2 | c.189G>C (p.Thr63=)
| |
1 | g.179575676C>T | CA1267299 | NPHS2 | c.189G>A (p.Thr63=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575677G>A | CA343553167 | NPHS2 | c.188C>T (p.Thr63Met)
| gnomAD v4 |
1 | g.179575677G>C | CA343553169 | NPHS2 | c.188C>G (p.Thr63Arg)
| |
1 | g.179575677G>T | CA343553172 | NPHS2 | c.188C>A (p.Thr63Lys)
| gnomAD v4 |
1 | g.179575678T>A | CA343553177 | NPHS2 | c.187A>T (p.Thr63Ser)
| |
1 | g.179575678T>C | CA343553180 | NPHS2 | c.187A>G (p.Thr63Ala)
| |
1 | g.179575678T>G | CA343553182 | NPHS2 | c.187A>C (p.Thr63Pro)
| |
1 | g.179575679G>A | CA421996334 | NPHS2 | c.186C>T (p.Ala62=)
| |
1 | g.179575679G>C | CA421996338 | NPHS2 | c.186C>G (p.Ala62=)
| gnomAD v4 |
1 | g.179575679G>T | CA421996340 | NPHS2 | c.186C>A (p.Ala62=)
| |
1 | g.179575680G>A | CA343553186 | NPHS2 | c.185C>T (p.Ala62Val)
| |
1 | g.179575680G>C | CA343553188 | NPHS2 | c.185C>G (p.Ala62Gly)
| |
1 | g.179575680G>T | CA343553192 | NPHS2 | c.185C>A (p.Ala62Asp)
| gnomAD v4 |
1 | g.179575681C>A | CA343553194 | NPHS2 | c.184G>T (p.Ala62Ser)
| dbSNP |
1 | g.179575681C= | CA1210326670 | NPHS2 | c.184G= (p.Ala62=)
| |
1 | g.179575681C>G | CA343553196 | NPHS2 | c.184G>C (p.Ala62Pro)
| |
1 | g.179575681C>T | CA343553199 | NPHS2 | c.184G>A (p.Ala62Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575682G>A | CA421996377 | NPHS2 | c.183C>T (p.Ala61=)
| |
1 | g.179575682G>C | CA421996392 | NPHS2 | c.183C>G (p.Ala61=)
| |
1 | g.179575682G>T | CA421996401 | NPHS2 | c.183C>A (p.Ala61=)
| gnomAD v4 |
1 | g.179575683G>A | CA1267300 | NPHS2 | c.182C>T (p.Ala61Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575683G>C | CA343553200 | NPHS2 | c.182C>G (p.Ala61Gly)
| |
1 | g.179575683G= | CA1143458114 | NPHS2 | c.182C= (p.Ala61=)
| |
1 | g.179575683G>T | CA343553201 | NPHS2 | c.182C>A (p.Ala61Asp)
| gnomAD v4 |
1 | g.179575684C>A | CA343553203 | NPHS2 | c.181G>T (p.Ala61Ser)
| |
1 | g.179575684C= | CA1210326671 | NPHS2 | c.181G= (p.Ala61=)
| |
1 | g.179575684C>G | CA343553205 | NPHS2 | c.181G>C (p.Ala61Pro)
| |
1 | g.179575684C>T | CA1267301 | NPHS2 | c.181G>A (p.Ala61Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575685G>A | CA421996431 | NPHS2 | c.180C>T (p.Pro60=)
| gnomAD v4 |
1 | g.179575685G>C | CA421996434 | NPHS2 | c.180C>G (p.Pro60=)
| |
1 | g.179575685G>T | CA421996438 | NPHS2 | c.180C>A (p.Pro60=)
| |
1 | g.179575686G>A | CA343553213 | NPHS2 | c.179C>T (p.Pro60Leu)
| |
1 | g.179575686G>C | CA343553214 | NPHS2 | c.179C>G (p.Pro60Arg)
| |
1 | g.179575686G>T | CA343553218 | NPHS2 | c.179C>A (p.Pro60His)
| gnomAD v4 |
1 | g.179575687G>A | CA343553220 | NPHS2 | c.178C>T (p.Pro60Ser)
| |
1 | g.179575687G>C | CA343553221 | NPHS2 | c.178C>G (p.Pro60Ala)
| |
1 | g.179575687G>T | CA343553222 | NPHS2 | c.178C>A (p.Pro60Thr)
| gnomAD v4 |
1 | g.179575688C>A | CA421996480 | NPHS2 | c.177G>T (p.Ala59=)
| ClinVar gnomAD v4 |
1 | g.179575688C= | CA1210326672 | NPHS2 | c.177G= (p.Ala59=)
| |
1 | g.179575688C>G | CA421996483 | NPHS2 | c.177G>C (p.Ala59=)
| |
1 | g.179575688C>T | CA421996486 | NPHS2 | c.177G>A (p.Ala59=)
| dbSNP gnomAD v4 |
1 | g.179575689G>A | CA1267302 | NPHS2 | c.176C>T (p.Ala59Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575689G>C | CA343553226 | NPHS2 | c.176C>G (p.Ala59Gly)
| |
1 | g.179575689G= | CA1143461553 | NPHS2 | c.176C= (p.Ala59=)
| |
1 | g.179575689G>T | CA1267303 | NPHS2 | c.176C>A (p.Ala59Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575690C>A | CA343553235 | NPHS2 | c.175G>T (p.Ala59Ser)
| gnomAD v4 |
1 | g.179575690C= | CA1210326673 | NPHS2 | c.175G= (p.Ala59=)
| |
1 | g.179575690C>G | CA1267304 | NPHS2 | c.175G>C (p.Ala59Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575690C>T | CA343553233 | NPHS2 | c.175G>A (p.Ala59Thr)
| |
1 | g.179575691T>A | CA421996523 | NPHS2 | c.174A>T (p.Arg58=)
| |
1 | g.179575691T>C | CA421996526 | NPHS2 | c.174A>G (p.Arg58=)
| gnomAD v4 |
1 | g.179575691T>G | CA421996529 | NPHS2 | c.174A>C (p.Arg58=)
| |
1 | g.179575692C>A | CA343553241 | NPHS2 | c.173G>T (p.Arg58Leu)
| |
1 | g.179575692C>G | CA343553245 | NPHS2 | c.173G>C (p.Arg58Pro)
| |
1 | g.179575692C>T | CA343553256 | NPHS2 | c.173G>A (p.Arg58Gln)
| gnomAD v4 |
1 | g.179575693G>A | CA343553260 | NPHS2 | c.172C>T (p.Arg58Ter)
| gnomAD v4 |
1 | g.179575693G>C | CA343553262 | NPHS2 | c.172C>G (p.Arg58Gly)
| gnomAD v4 |
1 | g.179575693G= | CA1210326674 | NPHS2 | c.172C= (p.Arg58=)
| |
1 | g.179575693G>T | CA1267305 | NPHS2 | c.172C>A (p.Arg58=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575696del | CA2649317006 | NPHS2 | c.172del (p.Arg58GlufsTer?)
| gnomAD v4 |
1 | g.179575694G>A | CA421996550 | NPHS2 | c.171C>T (p.Pro57=)
| gnomAD v4 |
1 | g.179575694G>C | CA421996553 | NPHS2 | c.171C>G (p.Pro57=)
| |
1 | g.179575694G>T | CA421996558 | NPHS2 | c.171C>A (p.Pro57=)
| |
1 | g.179575695G>A | CA343553271 | NPHS2 | c.170C>T (p.Pro57Leu)
| |
1 | g.179575695G>C | CA343553266 | NPHS2 | c.170C>G (p.Pro57Arg)
| |
1 | g.179575695G>T | CA343553268 | NPHS2 | c.170C>A (p.Pro57His)
| gnomAD v4 |
1 | g.179575696G>A | CA343553273 | NPHS2 | c.169C>T (p.Pro57Ser)
| gnomAD v4 |
1 | g.179575696G>C | CA343553277 | NPHS2 | c.169C>G (p.Pro57Ala)
| |
1 | g.179575696G= | CA1210326675 | NPHS2 | c.169C= (p.Pro57=)
| |
1 | g.179575696G>T | CA343553287 | NPHS2 | c.169C>A (p.Pro57Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575697C>A | CA343553290 | NPHS2 | c.168G>T (p.Glu56Asp)
| gnomAD v4 |
1 | g.179575697C= | CA1210326676 | NPHS2 | c.168G= (p.Glu56=)
| |
1 | g.179575697C>G | CA343553293 | NPHS2 | c.168G>C (p.Glu56Asp)
| |
1 | g.179575697C>T | CA421996590 | NPHS2 | c.168G>A (p.Glu56=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575697_179575698delinsCT | CA1210326677 | NPHS2 | c.167_168delinsAG (p.Glu56=)
| |
1 | g.179575698del | CA913189510 | NPHS2 | c.167del (p.Glu56GlyfsTer?)
| ClinVar dbSNP |
1 | g.179575698T>A | CA343553297 | NPHS2 | c.167A>T (p.Glu56Val)
| |
1 | g.179575698T>C | CA1267306 | NPHS2 | c.167A>G (p.Glu56Gly)
| ClinVar dbSNP ExAC gnomAD v2 |
1 | g.179575698T>G | CA343553298 | NPHS2 | c.167A>C (p.Glu56Ala)
| |
1 | g.179575698T= | CA1149136072 | NPHS2 | c.167A= (p.Glu56=)
| |
1 | g.179575698dup | CA913071835 | NPHS2 | c.167dup (p.Pro57AlafsTer13)
| |
1 | g.179575699C>A | CA343553305 | NPHS2 | c.166G>T (p.Glu56Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575699C= | CA1210326678 | NPHS2 | c.166G= (p.Glu56=)
| |
1 | g.179575699C>G | CA343553308 | NPHS2 | c.166G>C (p.Glu56Gln)
| |
1 | g.179575699C>T | CA343553310 | NPHS2 | c.166G>A (p.Glu56Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575703dup | CA658822857 | NPHS2 | c.166dup (p.Glu56GlyfsTer14)
| ClinVar dbSNP |
1 | g.179575703del | CA2649317007 | NPHS2 | c.166del (p.Glu56SerfsTer?)
| gnomAD v4 |
1 | g.179575700C>A | CA421996626 | NPHS2 | c.165G>T (p.Gly55=)
| |
1 | g.179575700C>G | CA421996627 | NPHS2 | c.165G>C (p.Gly55=)
| |
1 | g.179575700C>T | CA421996628 | NPHS2 | c.165G>A (p.Gly55=)
| gnomAD v4 |
1 | g.179575701C>A | CA343553312 | NPHS2 | c.164G>T (p.Gly55Val)
| |
1 | g.179575701C= | CA1210326679 | NPHS2 | c.164G= (p.Gly55=)
| |
1 | g.179575701C>G | CA343553315 | NPHS2 | c.164G>C (p.Gly55Ala)
| dbSNP |
1 | g.179575701C>T | CA343553322 | NPHS2 | c.164G>A (p.Gly55Glu)
| gnomAD v4 |
1 | g.179575702C>A | CA343553330 | NPHS2 | c.163G>T (p.Gly55Trp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575702C= | CA1210326680 | NPHS2 | c.163G= (p.Gly55=)
| |
1 | g.179575702C>G | CA343553347 | NPHS2 | c.163G>C (p.Gly55Arg)
| |
1 | g.179575702C>T | CA343553351 | NPHS2 | c.163G>A (p.Gly55Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575703C>A | CA421996648 | NPHS2 | c.162G>T (p.Pro54=)
| dbSNP gnomAD v4 |
1 | g.179575703C= | CA1210326681 | NPHS2 | c.162G= (p.Pro54=)
| |
1 | g.179575703C>G | CA421996655 | NPHS2 | c.162G>C (p.Pro54=)
| |
1 | g.179575703C>T | CA421996645 | NPHS2 | c.162G>A (p.Pro54=)
| gnomAD v4 |
1 | g.179575704G>A | CA343553354 | NPHS2 | c.161C>T (p.Pro54Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575704G>C | CA343553355 | NPHS2 | c.161C>G (p.Pro54Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575704G= | CA1210326682 | NPHS2 | c.161C= (p.Pro54=)
| |
1 | g.179575704G>T | CA343553356 | NPHS2 | c.161C>A (p.Pro54Gln)
| gnomAD v4 |
1 | g.179575705G>A | CA343553362 | NPHS2 | c.160C>T (p.Pro54Ser)
| gnomAD v4 |
1 | g.179575705G>C | CA343553359 | NPHS2 | c.160C>G (p.Pro54Ala)
| |
1 | g.179575705G>T | CA343553357 | NPHS2 | c.160C>A (p.Pro54Thr)
| gnomAD v4 |
1 | g.179575706G>A | CA421996681 | NPHS2 | c.159C>T (p.Thr53=)
| gnomAD v4 |
1 | g.179575706G>C | CA421996684 | NPHS2 | c.159C>G (p.Thr53=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575706G= | CA1210326683 | NPHS2 | c.159C= (p.Thr53=)
| |
1 | g.179575706G>T | CA421996689 | NPHS2 | c.159C>A (p.Thr53=)
| gnomAD v4 |
1 | g.179575707G>A | CA343553368 | NPHS2 | c.158C>T (p.Thr53Ile)
| |
1 | g.179575707G>C | CA343553376 | NPHS2 | c.158C>G (p.Thr53Ser)
| |
1 | g.179575707G>T | CA343553372 | NPHS2 | c.158C>A (p.Thr53Asn)
| gnomAD v4 |
1 | g.179575708T>A | CA343553380 | NPHS2 | c.157A>T (p.Thr53Ser)
| |
1 | g.179575708T>C | CA343553394 | NPHS2 | c.157A>G (p.Thr53Ala)
| gnomAD v4 |
1 | g.179575708T>G | CA33653862 | NPHS2 | c.157A>C (p.Thr53Pro)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575708T= | CA1210326684 | NPHS2 | c.157A= (p.Thr53=)
| |
1 | g.179575708_179575709delinsTC | CA1210326685 | NPHS2 | c.156_157delinsGA (p.Gly52=)
| |
1 | g.179575709C>A | CA421996732 | NPHS2 | c.156G>T (p.Gly52=)
| |
1 | g.179575709C= | CA1210326686 | NPHS2 | c.156G= (p.Gly52=)
| |
1 | g.179575709C>G | CA421996722 | NPHS2 | c.156G>C (p.Gly52=)
| |
1 | g.179575709C>T | CA421996719 | NPHS2 | c.156G>A (p.Gly52=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575712dup | CA2649317008 | NPHS2 | c.156dup (p.Thr53AspfsTer17)
| gnomAD v4 |
1 | g.179575712del | CA658683169 | NPHS2 | c.156del (p.Thr53ProfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?)
| ClinVar |
1 | g.179575710C>A | CA343553398 | NPHS2 | c.155G>T (p.Gly52Val)
| |
1 | g.179575710C>G | CA343553405 | NPHS2 | c.155G>C (p.Gly52Ala)
| |
1 | g.179575710C>T | CA343553407 | NPHS2 | c.155G>A (p.Gly52Glu)
| gnomAD v4 |
1 | g.179575711C>A | CA343553411 | NPHS2 | c.154G>T (p.Gly52Trp)
| gnomAD v4 |
1 | g.179575711C= | CA1210326687 | NPHS2 | c.154G= (p.Gly52=)
| |
1 | g.179575711C>G | CA343553413 | NPHS2 | c.154G>C (p.Gly52Arg)
| |
1 | g.179575711C>T | CA343553417 | NPHS2 | c.154G>A (p.Gly52Arg)
| dbSNP |
1 | g.179575712C>A | CA421996756 | NPHS2 | c.153G>T (p.Ala51=)
| gnomAD v4 |
1 | g.179575712C>G | CA421996759 | NPHS2 | c.153G>C (p.Ala51=)
| |
1 | g.179575712C>T | CA421996761 | NPHS2 | c.153G>A (p.Ala51=)
| dbSNP |
1 | g.179575713G>A | CA33653875 | NPHS2 | c.152C>T (p.Ala51Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575713G>C | CA343553422 | NPHS2 | c.152C>G (p.Ala51Gly)
| |
1 | g.179575713G= | CA1210326688 | NPHS2 | c.152C= (p.Ala51=)
| |
1 | g.179575713G>T | CA343553427 | NPHS2 | c.152C>A (p.Ala51Glu)
| gnomAD v4 |
1 | g.179575713_179575714delinsAG | CA2580061521 | NPHS2 | c.151_152delinsCT (p.Ala51Leu)
| ClinVar |
1 | g.179575714C>A | CA343553434 | NPHS2 | c.151G>T (p.Ala51Ser)
| dbSNP |
1 | g.179575714C= | CA1210326689 | NPHS2 | c.151G= (p.Ala51=)
| |
1 | g.179575714C>G | CA33653880 | NPHS2 | c.151G>C (p.Ala51Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575714C>T | CA343553440 | NPHS2 | c.151G>A (p.Ala51Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575715C>A | CA421996786 | NPHS2 | c.150G>T (p.Arg50=)
| COSMIC |
1 | g.179575715C= | CA1210326690 | NPHS2 | c.150G= (p.Arg50=)
| |
1 | g.179575715C>G | CA421996791 | NPHS2 | c.150G>C (p.Arg50=)
| |
1 | g.179575715C>T | CA421996792 | NPHS2 | c.150G>A (p.Arg50=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575716C>A | CA343553449 | NPHS2 | c.149G>T (p.Arg50Leu)
| gnomAD v4 |
1 | g.179575716C= | CA1210326691 | NPHS2 | c.149G= (p.Arg50=)
| |
1 | g.179575716C>G | CA343553452 | NPHS2 | c.149G>C (p.Arg50Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575716C>T | CA343553450 | NPHS2 | c.149G>A (p.Arg50Gln)
| gnomAD v4 |
1 | g.179575717del | CA2649317009 | NPHS2 | c.148del (p.Arg50GlyfsTer?)
| gnomAD v4 |
1 | g.179575717G>A | CA10608825 | NPHS2 | c.148C>T (p.Arg50Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575717G>C | CA343553458 | NPHS2 | c.148C>G (p.Arg50Gly)
| dbSNP gnomAD v4 |
1 | g.179575717G= | CA1210326692 | NPHS2 | c.148C= (p.Arg50=)
| |
1 | g.179575717G>T | CA421996804 | NPHS2 | c.148C>A (p.Arg50=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575718T>A | CA421996809 | NPHS2 | c.147A>T (p.Gly49=)
| |
1 | g.179575718T>C | CA421996812 | NPHS2 | c.147A>G (p.Gly49=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575718T>G | CA421996816 | NPHS2 | c.147A>C (p.Gly49=)
| |
1 | g.179575718T= | CA1210326693 | NPHS2 | c.147A= (p.Gly49=)
| |
1 | g.179575719C>A | CA343553463 | NPHS2 | c.146G>T (p.Gly49Val)
| |
1 | g.179575719C= | CA1210326694 | NPHS2 | c.146G= (p.Gly49=)
| |
1 | g.179575719C>G | CA343553466 | NPHS2 | c.146G>C (p.Gly49Ala)
| dbSNP |
1 | g.179575719C>T | CA343553470 | NPHS2 | c.146G>A (p.Gly49Glu)
| |
1 | g.179575720C>A | CA343553475 | NPHS2 | c.145G>T (p.Gly49Ter)
| gnomAD v4 |
1 | g.179575720C>G | CA343553495 | NPHS2 | c.145G>C (p.Gly49Arg)
| gnomAD v4 |
1 | g.179575720C>T | CA343553498 | NPHS2 | c.145G>A (p.Gly49Arg)
| |
1 | g.179575721G>A | CA1267307 | NPHS2 | c.144C>T (p.Ser48=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575721G>C | CA421996847 | NPHS2 | c.144C>G (p.Ser48=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575721G= | CA1141195170 | NPHS2 | c.144C= (p.Ser48=)
| |
1 | g.179575721G>T | CA421996851 | NPHS2 | c.144C>A (p.Ser48=)
| |
1 | g.179575722G>A | CA343553503 | NPHS2 | c.143C>T (p.Ser48Phe)
| gnomAD v4 COSMIC |
1 | g.179575722G>C | CA343553501 | NPHS2 | c.143C>G (p.Ser48Cys)
| |
1 | g.179575722G= | CA1210326695 | NPHS2 | c.143C= (p.Ser48=)
| |
1 | g.179575722G>T | CA10604789 | NPHS2 | c.143C>A (p.Ser48Tyr)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575723A>C | CA343553516 | NPHS2 | c.142T>G (p.Ser48Ala)
| |
1 | g.179575723A>G | CA343553520 | NPHS2 | c.142T>C (p.Ser48Pro)
| gnomAD v4 |
1 | g.179575723A>T | CA343553522 | NPHS2 | c.142T>A (p.Ser48Thr)
| |
1 | g.179575723_179575727dup | CA16040671 | NPHS2 | c.138_142dup (p.Ser48TrpfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575724G>A | CA421996889 | NPHS2 | c.141C>T (p.Gly47=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575724G>C | CA421996884 | NPHS2 | c.141C>G (p.Gly47=)
| |
1 | g.179575724G= | CA1210326696 | NPHS2 | c.141C= (p.Gly47=)
| |
1 | g.179575724G>T | CA1267308 | NPHS2 | c.141C>A (p.Gly47=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575725C>A | CA343553538 | NPHS2 | c.140G>T (p.Gly47Val)
| |
1 | g.179575725C>G | CA343553541 | NPHS2 | c.140G>C (p.Gly47Ala)
| |
1 | g.179575725C>T | CA343553546 | NPHS2 | c.140G>A (p.Gly47Asp)
| |
1 | g.179575726C>A | CA343553550 | NPHS2 | c.139G>T (p.Gly47Cys)
| |
1 | g.179575726C>G | CA343553558 | NPHS2 | c.139G>C (p.Gly47Arg)
| |
1 | g.179575726C>T | CA343553560 | NPHS2 | c.139G>A (p.Gly47Ser)
| |
1 | g.179575727C>A | CA421996929 | NPHS2 | c.138G>T (p.Ser46=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575727C= | CA1210326697 | NPHS2 | c.138G= (p.Ser46=)
| |
1 | g.179575727C>G | CA421996925 | NPHS2 | c.138G>C (p.Ser46=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575727C>T | CA33653942 | NPHS2 | c.138G>A (p.Ser46=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575728G>A | CA343553566 | NPHS2 | c.137C>T (p.Ser46Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575728G>C | CA343553565 | NPHS2 | c.137C>G (p.Ser46Trp)
| dbSNP gnomAD v4 |
1 | g.179575728G= | CA1210326698 | NPHS2 | c.137C= (p.Ser46=)
| |
1 | g.179575728G>T | CA343553564 | NPHS2 | c.137C>A (p.Ser46Ter)
| dbSNP gnomAD v4 |
1 | g.179575728_179575729del | CA2746821928 | NPHS2 | c.136_137del (p.Ser46GlyfsTer23)
| |
1 | g.179575729A>C | CA343553567 | NPHS2 | c.136T>G (p.Ser46Ala)
| |
1 | g.179575729A>G | CA343553568 | NPHS2 | c.136T>C (p.Ser46Pro)
| |
1 | g.179575729A>T | CA343553570 | NPHS2 | c.136T>A (p.Ser46Thr)
| |
1 | g.179575730C>A | CA421996971 | NPHS2 | c.135G>T (p.Pro45=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575730C= | CA1148377789 | NPHS2 | c.135G= (p.Pro45=)
| |
1 | g.179575730C>G | CA1267309 | NPHS2 | c.135G>C (p.Pro45=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575730C>T | CA33653944 | NPHS2 | c.135G>A (p.Pro45=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575731_179575744dup | CA2580611213 | NPHS2 | c.122_135dup (p.Ser46LeufsTer?)
| ClinVar |
1 | g.179575731G>A | CA343553588 | NPHS2 | c.134C>T (p.Pro45Leu)
| gnomAD v4 |
1 | g.179575731G>C | CA1267310 | NPHS2 | c.134C>G (p.Pro45Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575731G= | CA1210326699 | NPHS2 | c.134C= (p.Pro45=)
| |
1 | g.179575731G>T | CA343553601 | NPHS2 | c.134C>A (p.Pro45Gln)
| gnomAD v4 |
1 | g.179575732del | CA2586967767 | NPHS2 | c.134del (p.Pro45ArgfsTer?)
| |
1 | g.179575732G>A | CA343553604 | NPHS2 | c.133C>T (p.Pro45Ser)
| gnomAD v4 |
1 | g.179575732G>C | CA343553606 | NPHS2 | c.133C>G (p.Pro45Ala)
| |
1 | g.179575732G>T | CA343553610 | NPHS2 | c.133C>A (p.Pro45Thr)
| dbSNP gnomAD v4 |
1 | g.179575733C>A | CA343553613 | NPHS2 | c.132G>T (p.Glu44Asp)
| gnomAD v4 |
1 | g.179575733C= | CA1210326700 | NPHS2 | c.132G= (p.Glu44=)
| |
1 | g.179575733C>G | CA343553615 | NPHS2 | c.132G>C (p.Glu44Asp)
| |
1 | g.179575733C>T | CA1267311 | NPHS2 | c.132G>A (p.Glu44=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575733dup | CA2586967768 | NPHS2 | c.132dup (p.Pro45AlafsTer25)
| |
1 | g.179575734T>A | CA343553630 | NPHS2 | c.131A>T (p.Glu44Val)
| |
1 | g.179575734T>C | CA343553633 | NPHS2 | c.131A>G (p.Glu44Gly)
| gnomAD v4 |
1 | g.179575734T>G | CA343553624 | NPHS2 | c.131A>C (p.Glu44Ala)
| |
1 | g.179575735C>A | CA343553635 | NPHS2 | c.130G>T (p.Glu44Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575735C= | CA1210326701 | NPHS2 | c.130G= (p.Glu44=)
| |
1 | g.179575735C>G | CA343553634 | NPHS2 | c.130G>C (p.Glu44Gln)
| |
1 | g.179575735C>T | CA1267312 | NPHS2 | c.130G>A (p.Glu44Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575736G>A | CA421997031 | NPHS2 | c.129C>T (p.Pro43=)
| ClinVar dbSNP |
1 | g.179575736G>C | CA421997034 | NPHS2 | c.129C>G (p.Pro43=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575736G= | CA1210326702 | NPHS2 | c.129C= (p.Pro43=)
| |
1 | g.179575736G>T | CA421997038 | NPHS2 | c.129C>A (p.Pro43=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575738del | CA2649317010 | NPHS2 | c.129del (p.Glu44SerfsTer?)
| gnomAD v4 |
1 | g.179575737G>A | CA343553636 | NPHS2 | c.128C>T (p.Pro43Leu)
| |
1 | g.179575737G>C | CA343553637 | NPHS2 | c.128C>G (p.Pro43Arg)
| |
1 | g.179575737G>T | CA343553639 | NPHS2 | c.128C>A (p.Pro43His)
| gnomAD v4 |
1 | g.179575738G>A | CA343553641 | NPHS2 | c.127C>T (p.Pro43Ser)
| gnomAD v4 |
1 | g.179575738G>C | CA33653980 | NPHS2 | c.127C>G (p.Pro43Ala)
| dbSNP |
1 | g.179575738G= | CA1145654591 | NPHS2 | c.127C= (p.Pro43=)
| |
1 | g.179575738G>T | CA343553646 | NPHS2 | c.127C>A (p.Pro43Thr)
| gnomAD v4 |
1 | g.179575739C>A | CA421997051 | NPHS2 | c.126G>T (p.Gly42=)
| gnomAD v4 |
1 | g.179575739C= | CA1210326703 | NPHS2 | c.126G= (p.Gly42=)
| |
1 | g.179575739C>G | CA421997061 | NPHS2 | c.126G>C (p.Gly42=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575739C>T | CA1267313 | NPHS2 | c.126G>A (p.Gly42=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575739_179575740delinsTT | CA645518943 | NPHS2 | c.125_126delinsAA (p.Gly42Glu)
| COSMIC |
1 | g.179575741del | CA2649317011 | NPHS2 | c.126del (p.Glu44SerfsTer?)
| gnomAD v4 |
1 | g.179575740C>A | CA343553657 | NPHS2 | c.125G>T (p.Gly42Val)
| gnomAD v4 |
1 | g.179575740C>G | CA343553660 | NPHS2 | c.125G>C (p.Gly42Ala)
| |
1 | g.179575740C>T | CA343553664 | NPHS2 | c.125G>A (p.Gly42Glu)
| gnomAD v4 |
1 | g.179575741C>A | CA343553677 | NPHS2 | c.124G>T (p.Gly42Trp)
| |
1 | g.179575741C= | CA1146717272 | NPHS2 | c.124G= (p.Gly42=)
| |
1 | g.179575741C>G | CA343553682 | NPHS2 | c.124G>C (p.Gly42Arg)
| |
1 | g.179575741C>T | CA1267314 | NPHS2 | c.124G>A (p.Gly42Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575742A>C | CA421997077 | NPHS2 | c.123T>G (p.Ala41=)
| gnomAD v4 |
1 | g.179575742A>G | CA421997082 | NPHS2 | c.123T>C (p.Ala41=)
| |
1 | g.179575742A>T | CA421997097 | NPHS2 | c.123T>A (p.Ala41=)
| |
1 | g.179575743G>A | CA343553687 | NPHS2 | c.122C>T (p.Ala41Val)
| gnomAD v4 |
1 | g.179575743G>C | CA1267315 | NPHS2 | c.122C>G (p.Ala41Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575743G= | CA1210326704 | NPHS2 | c.122C= (p.Ala41=)
| |
1 | g.179575743G>T | CA343553702 | NPHS2 | c.122C>A (p.Ala41Asp)
| gnomAD v4 |
1 | g.179575744C>A | CA1267316 | NPHS2 | c.121G>T (p.Ala41Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575744C= | CA1210326705 | NPHS2 | c.121G= (p.Ala41=)
| |
1 | g.179575744C>G | CA343553721 | NPHS2 | c.121G>C (p.Ala41Pro)
| |
1 | g.179575744C>T | CA343553723 | NPHS2 | c.121G>A (p.Ala41Thr)
| |
1 | g.179575745C>A | CA343553725 | NPHS2 | c.120G>T (p.Glu40Asp)
| gnomAD v4 |
1 | g.179575745C= | CA1210326706 | NPHS2 | c.120G= (p.Glu40=)
| |
1 | g.179575745C>G | CA343553726 | NPHS2 | c.120G>C (p.Glu40Asp)
| |
1 | g.179575745C>T | CA421997127 | NPHS2 | c.120G>A (p.Glu40=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575746_179575747del | CA2649317012 | NPHS2 | c.119_120del (p.Glu40GlyfsTer29)
| gnomAD v4 |
1 | g.179575746T>A | CA343553731 | NPHS2 | c.119A>T (p.Glu40Val)
| |
1 | g.179575746T>C | CA343553734 | NPHS2 | c.119A>G (p.Glu40Gly)
| dbSNP gnomAD v4 |
1 | g.179575746T>G | CA343553739 | NPHS2 | c.119A>C (p.Glu40Ala)
| |
1 | g.179575751_179575814del | CA2649317013 | NPHS2 | c.56_119del (p.Thr19ArgfsTer?)
| gnomAD v4 |
1 | g.179575747C>A | CA1267317 | NPHS2 | c.118G>T (p.Glu40Ter)
| dbSNP ExAC gnomAD v4 |
1 | g.179575747C= | CA1210326707 | NPHS2 | c.118G= (p.Glu40=)
| |
1 | g.179575747C>G | CA343553752 | NPHS2 | c.118G>C (p.Glu40Gln)
| |
1 | g.179575747C>T | CA343553755 | NPHS2 | c.118G>A (p.Glu40Lys)
| gnomAD v4 |
1 | g.179575748C>A | CA343553760 | NPHS2 | c.117G>T (p.Gln39His)
| gnomAD v4 |
1 | g.179575748C= | CA1210326708 | NPHS2 | c.117G= (p.Gln39=)
| |
1 | g.179575748C>G | CA343553763 | NPHS2 | c.117G>C (p.Gln39His)
| |
1 | g.179575748C>T | CA33654007 | NPHS2 | c.117G>A (p.Gln39=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575749T>A | CA343553765 | NPHS2 | c.116A>T (p.Gln39Leu)
| |
1 | g.179575749T>C | CA343553766 | NPHS2 | c.116A>G (p.Gln39Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575749T>G | CA343553767 | NPHS2 | c.116A>C (p.Gln39Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575749T= | CA1210326709 | NPHS2 | c.116A= (p.Gln39=)
| |
1 | g.179575750G>A | CA354118 | NPHS2 | c.115C>T (p.Gln39Ter)
| ClinVar dbSNP |
1 | g.179575750G>C | CA343553768 | NPHS2 | c.115C>G (p.Gln39Glu)
| |
1 | g.179575750G= | CA1210326710 | NPHS2 | c.115C= (p.Gln39=)
| |
1 | g.179575750G>T | CA343553772 | NPHS2 | c.115C>A (p.Gln39Lys)
| gnomAD v4 |
1 | g.179575750_179575751insA | CA2586967769 | NPHS2 | c.114_115insT (p.Gln39SerfsTer?)
| |
1 | g.179575751G>A | CA421997207 | NPHS2 | c.114C>T (p.Arg38=)
| gnomAD v4 |
1 | g.179575751G>C | CA421997209 | NPHS2 | c.114C>G (p.Arg38=)
| |
1 | g.179575751G= | CA1210326711 | NPHS2 | c.114C= (p.Arg38=)
| |
1 | g.179575751G>T | CA421997218 | NPHS2 | c.114C>A (p.Arg38=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575752C>A | CA1267318 | NPHS2 | c.113G>T (p.Arg38Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575752C= | CA1210326712 | NPHS2 | c.113G= (p.Arg38=)
| |
1 | g.179575752C>G | CA343553778 | NPHS2 | c.113G>C (p.Arg38Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575752C>T | CA343553787 | NPHS2 | c.113G>A (p.Arg38His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575761_179575829del | CA2649317014 | NPHS2 | c.45_113del (p.Gly16_Arg38del)
| gnomAD v4 |
1 | g.179575753G>A | CA343553791 | NPHS2 | c.112C>T (p.Arg38Cys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575753G>C | CA343553796 | NPHS2 | c.112C>G (p.Arg38Gly)
| dbSNP gnomAD v4 |
1 | g.179575753G= | CA1210326713 | NPHS2 | c.112C= (p.Arg38=)
| |
1 | g.179575753G>T | CA1267319 | NPHS2 | c.112C>A (p.Arg38Ser)
| dbSNP ExAC gnomAD v4 |
1 | g.179575754C>A | CA421997246 | NPHS2 | c.111G>T (p.Gly37=)
| gnomAD v4 |
1 | g.179575754C= | CA1210326714 | NPHS2 | c.111G= (p.Gly37=)
| |
1 | g.179575754C>G | CA421997239 | NPHS2 | c.111G>C (p.Gly37=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575754C>T | CA421997243 | NPHS2 | c.111G>A (p.Gly37=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575756dup | CA1267320 | NPHS2 | c.111dup (p.Arg38AlafsTer?)
| dbSNP ExAC |
1 | g.179575755C>A | CA1267321 | NPHS2 | c.110G>T (p.Gly37Val)
| dbSNP ExAC |
1 | g.179575755C= | CA1210326715 | NPHS2 | c.110G= (p.Gly37=)
| |
1 | g.179575755C>G | CA343553804 | NPHS2 | c.110G>C (p.Gly37Ala)
| |
1 | g.179575755C>T | CA33654054 | NPHS2 | c.110G>A (p.Gly37Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575756C>A | CA1267322 | NPHS2 | c.109G>T (p.Gly37Trp)
| dbSNP ExAC gnomAD v4 |
1 | g.179575756C= | CA1210326716 | NPHS2 | c.109G= (p.Gly37=)
| |
1 | g.179575756C>G | CA343553807 | NPHS2 | c.109G>C (p.Gly37Arg)
| gnomAD v4 |
1 | g.179575756C>T | CA1267323 | NPHS2 | c.109G>A (p.Gly37Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575757G>A | CA421997277 | NPHS2 | c.108C>T (p.Arg36=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575757G>C | CA421997280 | NPHS2 | c.108C>G (p.Arg36=)
| |
1 | g.179575757G= | CA1210326717 | NPHS2 | c.108C= (p.Arg36=)
| |
1 | g.179575757G>T | CA1267324 | NPHS2 | c.108C>A (p.Arg36=)
| dbSNP ExAC gnomAD v4 |
1 | g.179575758C>A | CA343553814 | NPHS2 | c.107G>T (p.Arg36Leu)
| gnomAD v4 |
1 | g.179575758C= | CA1210326718 | NPHS2 | c.107G= (p.Arg36=)
| |
1 | g.179575758C>G | CA343553809 | NPHS2 | c.107G>C (p.Arg36Pro)
| gnomAD v4 |
1 | g.179575758C>T | CA1267325 | NPHS2 | c.107G>A (p.Arg36His)
| dbSNP ExAC gnomAD v4 |
1 | g.179575759G>A | CA343553820 | NPHS2 | c.106C>T (p.Arg36Cys)
| gnomAD v4 |
1 | g.179575759G>C | CA343553826 | NPHS2 | c.106C>G (p.Arg36Gly)
| gnomAD v4 |
1 | g.179575759G= | CA1210326719 | NPHS2 | c.106C= (p.Arg36=)
| |
1 | g.179575759G>T | CA1267326 | NPHS2 | c.106C>A (p.Arg36Ser)
| dbSNP ExAC gnomAD v4 |
1 | g.179575760del | CA2649317015 | NPHS2 | c.106del (p.Arg36AlafsTer?)
| gnomAD v4 |
1 | g.179575761_179575830del | CA2649317016 | NPHS2 | c.37_106del (p.Arg13AlafsTer?)
| gnomAD v4 |
1 | g.179575760G>A | CA421997313 | NPHS2 | c.105C>T (p.Gly35=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575760G>C | CA33654061 | NPHS2 | c.105C>G (p.Gly35=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575760G= | CA1210326720 | NPHS2 | c.105C= (p.Gly35=)
| |
1 | g.179575760G>T | CA421997317 | NPHS2 | c.105C>A (p.Gly35=)
| gnomAD v4 |
1 | g.179575760_179575761del | CA2649317017 | NPHS2 | c.104_105del (p.Gly35AlafsTer?)
| gnomAD v4 |
1 | g.179575762_179575763insCCAGCC | CA2649317019 | NPHS2 | c.105_106insTGGGGC (p.Gly35_Arg36insTrpGly)
| gnomAD v4 |
1 | g.179575762_179575763insCCCGCC | CA2649317018 | NPHS2 | c.105_106insGGGGGC (p.Gly35_Arg36insGlyGly)
| gnomAD v4 |
1 | g.179575761C>A | CA343553832 | NPHS2 | c.104G>T (p.Gly35Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575761C= | CA1210326721 | NPHS2 | c.104G= (p.Gly35=)
| |
1 | g.179575761C>G | CA343553835 | NPHS2 | c.104G>C (p.Gly35Ala)
| |
1 | g.179575761C>T | CA10581522 | NPHS2 | c.104G>A (p.Gly35Asp)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575762dup | CA527598244 | NPHS2 | c.104dup (p.Arg36ProfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575762C>A | CA343553862 | NPHS2 | c.103G>T (p.Gly35Cys)
| gnomAD v4 |
1 | g.179575762C= | CA1148399577 | NPHS2 | c.103G= (p.Gly35=)
| |
1 | g.179575762C>G | CA343553858 | NPHS2 | c.103G>C (p.Gly35Arg)
| |
1 | g.179575762C>T | CA1267327 | NPHS2 | c.103G>A (p.Gly35Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575762_179575763delinsCT | CA1210326722 | NPHS2 | c.102_103delinsAG (p.Gly34=)
| |