19 | g.35845731C>A | CA405399775 | NPHS1 | c.1695G>T (p.Leu565Phe)
| |
19 | g.35845731C= | CA2333849083 | NPHS1 | c.1695G= (p.Leu565=)
| |
19 | g.35845731C>G | CA9390363 | NPHS1 | c.1695G>C (p.Leu565Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845731C>T | CA507314235 | NPHS1 | c.1695G>A (p.Leu565=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845732A>C | CA405399778 | NPHS1 | c.1694T>G (p.Leu565Trp)
| |
19 | g.35845732A>G | CA405399780 | NPHS1 | c.1694T>C (p.Leu565Ser)
| |
19 | g.35845732A>T | CA405399782 | NPHS1 | c.1694T>A (p.Leu565Ter)
| |
19 | g.35845733A>C | CA405399785 | NPHS1 | c.1693T>G (p.Leu565Val)
| |
19 | g.35845733A>G | CA507314236 | NPHS1 | c.1693T>C (p.Leu565=)
| ClinVar |
19 | g.35845733A>T | CA405399787 | NPHS1 | c.1693T>A (p.Leu565Met)
| |
19 | g.35845734G>A | CA507314237 | NPHS1 | c.1692C>T (p.Asn564=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845734G>C | CA405399790 | NPHS1 | c.1692C>G (p.Asn564Lys)
| |
19 | g.35845734G>T | CA405399792 | NPHS1 | c.1692C>A (p.Asn564Lys)
| |
19 | g.35845735T>A | CA405399794 | NPHS1 | c.1691A>T (p.Asn564Ile)
| |
19 | g.35845735T>C | CA405399797 | NPHS1 | c.1691A>G (p.Asn564Ser)
| |
19 | g.35845735T>G | CA405399795 | NPHS1 | c.1691A>C (p.Asn564Thr)
| |
19 | g.35845736T>A | CA405399800 | NPHS1 | c.1690A>T (p.Asn564Tyr)
| |
19 | g.35845736T>C | CA405399804 | NPHS1 | c.1690A>G (p.Asn564Asp)
| |
19 | g.35845736T>G | CA405399802 | NPHS1 | c.1690A>C (p.Asn564His)
| |
19 | g.35845737T>A | CA405399807 | NPHS1 | c.1689A>T (p.Leu563Phe)
| |
19 | g.35845737T>C | CA507314238 | NPHS1 | c.1689A>G (p.Leu563=)
| gnomAD v4 |
19 | g.35845737T>G | CA405399808 | NPHS1 | c.1689A>C (p.Leu563Phe)
| |
19 | g.35845738A>C | CA405399811 | NPHS1 | c.1688T>G (p.Leu563Ter)
| |
19 | g.35845738A>G | CA405399813 | NPHS1 | c.1688T>C (p.Leu563Ser)
| |
19 | g.35845738A>T | CA405399815 | NPHS1 | c.1688T>A (p.Leu563Ter)
| |
19 | g.35845739A>C | CA405399818 | NPHS1 | c.1687T>G (p.Leu563Val)
| |
19 | g.35845739A>G | CA507314239 | NPHS1 | c.1687T>C (p.Leu563=)
| |
19 | g.35845739A>T | CA405399820 | NPHS1 | c.1687T>A (p.Leu563Ile)
| |
19 | g.35845740G>A | CA507314240 | NPHS1 | c.1686C>T (p.Ala562=)
| gnomAD v4 |
19 | g.35845740G>C | CA507314241 | NPHS1 | c.1686C>G (p.Ala562=)
| |
19 | g.35845740G>T | CA507314242 | NPHS1 | c.1686C>A (p.Ala562=)
| |
19 | g.35845741G>A | CA405399823 | NPHS1 | c.1685C>T (p.Ala562Val)
| |
19 | g.35845741G>C | CA405399825 | NPHS1 | c.1685C>G (p.Ala562Gly)
| |
19 | g.35845741G>T | CA405399827 | NPHS1 | c.1685C>A (p.Ala562Asp)
| |
19 | g.35845742C>A | CA405399834 | NPHS1 | c.1684G>T (p.Ala562Ser)
| gnomAD v4 |
19 | g.35845742C>G | CA405399832 | NPHS1 | c.1684G>C (p.Ala562Pro)
| |
19 | g.35845742C>T | CA405399830 | NPHS1 | c.1684G>A (p.Ala562Thr)
| gnomAD v4 |
19 | g.35845743G>A | CA507314243 | NPHS1 | c.1683C>T (p.Asp561=)
| |
19 | g.35845743G>C | CA405399836 | NPHS1 | c.1683C>G (p.Asp561Glu)
| dbSNP |
19 | g.35845743G>T | CA405399838 | NPHS1 | c.1683C>A (p.Asp561Glu)
| |
19 | g.35845744T>A | CA405399840 | NPHS1 | c.1682A>T (p.Asp561Val)
| |
19 | g.35845744T>C | CA307785247 | NPHS1 | c.1682A>G (p.Asp561Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35845744T>G | CA405399844 | NPHS1 | c.1682A>C (p.Asp561Ala)
| |
19 | g.35845744T= | CA2333849084 | NPHS1 | c.1682A= (p.Asp561=)
| |
19 | g.35845745C>A | CA405399848 | NPHS1 | c.1681G>T (p.Asp561Tyr)
| |
19 | g.35845745C>G | CA405399850 | NPHS1 | c.1681G>C (p.Asp561His)
| |
19 | g.35845745C>T | CA405399853 | NPHS1 | c.1681G>A (p.Asp561Asn)
| |
19 | g.35845746T>A | CA507314244 | NPHS1 | c.1680A>T (p.Gly560=)
| |
19 | g.35845746T>C | CA507314245 | NPHS1 | c.1680A>G (p.Gly560=)
| |
19 | g.35845746T>G | CA507314246 | NPHS1 | c.1680A>C (p.Gly560=)
| |
19 | g.35845747C>A | CA405399856 | NPHS1 | c.1679G>T (p.Gly560Val)
| |
19 | g.35845747C>G | CA405399858 | NPHS1 | c.1679G>C (p.Gly560Ala)
| |
19 | g.35845747C>T | CA405399860 | NPHS1 | c.1679G>A (p.Gly560Glu)
| COSMIC |
19 | g.35845748C>A | CA405399865 | NPHS1 | c.1678G>T (p.Gly560Ter)
| |
19 | g.35845748C= | CA2333849085 | NPHS1 | c.1678G= (p.Gly560=)
| |
19 | g.35845748C>G | CA405399867 | NPHS1 | c.1678G>C (p.Gly560Arg)
| |
19 | g.35845748C>T | CA405399863 | NPHS1 | c.1678G>A (p.Gly560Arg)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845749C>A | CA507314248 | NPHS1 | c.1677G>T (p.Pro559=)
| ClinVar dbSNP |
19 | g.35845749C= | CA2333849086 | NPHS1 | c.1677G= (p.Pro559=)
| |
19 | g.35845749C>G | CA507314247 | NPHS1 | c.1677G>C (p.Pro559=)
| |
19 | g.35845749C>T | CA307785250 | NPHS1 | c.1677G>A (p.Pro559=)
| dbSNP |
19 | g.35845750G>A | CA405399872 | NPHS1 | c.1676C>T (p.Pro559Leu)
| dbSNP |
19 | g.35845750G>C | CA405399874 | NPHS1 | c.1676C>G (p.Pro559Arg)
| gnomAD v4 |
19 | g.35845750G= | CA2333849087 | NPHS1 | c.1676C= (p.Pro559=)
| |
19 | g.35845750G>T | CA405399876 | NPHS1 | c.1676C>A (p.Pro559Gln)
| |
19 | g.35845751G>A | CA405399878 | NPHS1 | c.1675C>T (p.Pro559Ser)
| COSMIC |
19 | g.35845751G>C | CA405399880 | NPHS1 | c.1675C>G (p.Pro559Ala)
| |
19 | g.35845751G>T | CA405399883 | NPHS1 | c.1675C>A (p.Pro559Thr)
| |
19 | g.35845752G>A | CA507314249 | NPHS1 | c.1674C>T (p.Arg558=)
| |
19 | g.35845752G>C | CA507314250 | NPHS1 | c.1674C>G (p.Arg558=)
| |
19 | g.35845752G>T | CA507314251 | NPHS1 | c.1674C>A (p.Arg558=)
| ClinVar |
19 | g.35845753C>A | CA405399886 | NPHS1 | c.1673G>T (p.Arg558Leu)
| gnomAD v4 |
19 | g.35845753C>G | CA405399888 | NPHS1 | c.1673G>C (p.Arg558Pro)
| |
19 | g.35845753C>T | CA405399891 | NPHS1 | c.1673G>A (p.Arg558His)
| |
19 | g.35845754G>A | CA250129 | NPHS1 | c.1672C>T (p.Arg558Cys)
| ClinVar dbSNP |
19 | g.35845754G>C | CA405399896 | NPHS1 | c.1672C>G (p.Arg558Gly)
| |
19 | g.35845754G= | CA2333849088 | NPHS1 | c.1672C= (p.Arg558=)
| |
19 | g.35845754G>T | CA405399898 | NPHS1 | c.1672C>A (p.Arg558Ser)
| dbSNP |
19 | g.35845755C>A | CA507314252 | NPHS1 | c.1671G>T (p.Leu557=)
| |
19 | g.35845755C>G | CA507314253 | NPHS1 | c.1671G>C (p.Leu557=)
| |
19 | g.35845755C>T | CA507314254 | NPHS1 | c.1671G>A (p.Leu557=)
| |
19 | g.35845756A>C | CA405399906 | NPHS1 | c.1670T>G (p.Leu557Arg)
| |
19 | g.35845756A>G | CA405399904 | NPHS1 | c.1670T>C (p.Leu557Pro)
| |
19 | g.35845756A>T | CA405399902 | NPHS1 | c.1670T>A (p.Leu557Gln)
| |
19 | g.35845757G>A | CA507314255 | NPHS1 | c.1669C>T (p.Leu557=)
| ClinVar dbSNP |
19 | g.35845757G>C | CA405399907 | NPHS1 | c.1669C>G (p.Leu557Val)
| |
19 | g.35845757G>T | CA405399909 | NPHS1 | c.1669C>A (p.Leu557Met)
| |
19 | g.35845758T>A | CA507314256 | NPHS1 | c.1668A>T (p.Ala556=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845758T>C | CA507314257 | NPHS1 | c.1668A>G (p.Ala556=)
| ClinVar |
19 | g.35845758T>G | CA507314258 | NPHS1 | c.1668A>C (p.Ala556=)
| |
19 | g.35845758T= | CA2333849089 | NPHS1 | c.1668A= (p.Ala556=)
| |
19 | g.35845759G>A | CA405399913 | NPHS1 | c.1667C>T (p.Ala556Val)
| |
19 | g.35845759G>C | CA405399915 | NPHS1 | c.1667C>G (p.Ala556Gly)
| |
19 | g.35845759G>T | CA405399918 | NPHS1 | c.1667C>A (p.Ala556Glu)
| gnomAD v4 |
19 | g.35845760C>A | CA405399920 | NPHS1 | c.1666G>T (p.Ala556Ser)
| dbSNP gnomAD v4 |
19 | g.35845760C= | CA2333849090 | NPHS1 | c.1666G= (p.Ala556=)
| |
19 | g.35845760C>G | CA405399922 | NPHS1 | c.1666G>C (p.Ala556Pro)
| |
19 | g.35845760C>T | CA405399924 | NPHS1 | c.1666G>A (p.Ala556Thr)
| |
19 | g.35845761G>A | CA9390364 | NPHS1 | c.1665C>T (p.Ser555=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845761G>C | CA507314259 | NPHS1 | c.1665C>G (p.Ser555=)
| ClinVar |
19 | g.35845761G= | CA2333849091 | NPHS1 | c.1665C= (p.Ser555=)
| |
19 | g.35845761G>T | CA507314260 | NPHS1 | c.1665C>A (p.Ser555=)
| gnomAD v4 |
19 | g.35845762G>A | CA405399929 | NPHS1 | c.1664C>T (p.Ser555Phe)
| |
19 | g.35845762G>C | CA405399931 | NPHS1 | c.1664C>G (p.Ser555Cys)
| |
19 | g.35845762G>T | CA405399933 | NPHS1 | c.1664C>A (p.Ser555Tyr)
| |
19 | g.35845763A>C | CA405399940 | NPHS1 | c.1663T>G (p.Ser555Ala)
| |
19 | g.35845763A>G | CA405399938 | NPHS1 | c.1663T>C (p.Ser555Pro)
| |
19 | g.35845763A>T | CA405399936 | NPHS1 | c.1663T>A (p.Ser555Thr)
| |
19 | g.35845764T>A | CA507314261 | NPHS1 | c.1662A>T (p.Ala554=)
| |
19 | g.35845764T>C | CA507314262 | NPHS1 | c.1662A>G (p.Ala554=)
| |
19 | g.35845764T>G | CA507314263 | NPHS1 | c.1662A>C (p.Ala554=)
| |
19 | g.35845765G>A | CA405399942 | NPHS1 | c.1661C>T (p.Ala554Val)
| gnomAD v4 |
19 | g.35845765G>C | CA405399946 | NPHS1 | c.1661C>G (p.Ala554Gly)
| |
19 | g.35845765G>T | CA405399944 | NPHS1 | c.1661C>A (p.Ala554Glu)
| |
19 | g.35845765dup | CA2697556470 | NPHS1 | c.1661dup (p.Ser555IlefsTer?)
| ClinVar |
19 | g.35845766C>A | CA405399950 | NPHS1 | c.1660G>T (p.Ala554Ser)
| gnomAD v4 |
19 | g.35845766C>G | CA405399951 | NPHS1 | c.1660G>C (p.Ala554Pro)
| |
19 | g.35845766C>T | CA405399953 | NPHS1 | c.1660G>A (p.Ala554Thr)
| |
19 | g.35845767G>A | CA507314264 | NPHS1 | c.1659C>T (p.Asn553=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845767G>C | CA405399955 | NPHS1 | c.1659C>G (p.Asn553Lys)
| gnomAD v4 |
19 | g.35845767G= | CA2333849092 | NPHS1 | c.1659C= (p.Asn553=)
| |
19 | g.35845767G>T | CA405399957 | NPHS1 | c.1659C>A (p.Asn553Lys)
| gnomAD v4 |
19 | g.35845768T>A | CA405399966 | NPHS1 | c.1658A>T (p.Asn553Ile)
| |
19 | g.35845768T>C | CA405399964 | NPHS1 | c.1658A>G (p.Asn553Ser)
| |
19 | g.35845768T>G | CA405399961 | NPHS1 | c.1658A>C (p.Asn553Thr)
| |
19 | g.35845769T>A | CA405399969 | NPHS1 | c.1657A>T (p.Asn553Tyr)
| |
19 | g.35845769T>C | CA405399971 | NPHS1 | c.1657A>G (p.Asn553Asp)
| |
19 | g.35845769T>G | CA405399973 | NPHS1 | c.1657A>C (p.Asn553His)
| |
19 | g.35845770G>A | CA507314266 | NPHS1 | c.1656C>T (p.Ala552=)
| |
19 | g.35845770G>C | CA507314267 | NPHS1 | c.1656C>G (p.Ala552=)
| |
19 | g.35845770G>T | CA507314265 | NPHS1 | c.1656C>A (p.Ala552=)
| |
19 | g.35845771G>A | CA405399977 | NPHS1 | c.1655C>T (p.Ala552Val)
| |
19 | g.35845771G>C | CA405399979 | NPHS1 | c.1655C>G (p.Ala552Gly)
| |
19 | g.35845771G>T | CA405399981 | NPHS1 | c.1655C>A (p.Ala552Asp)
| gnomAD v4 |
19 | g.35845772C>A | CA405399985 | NPHS1 | c.1654G>T (p.Ala552Ser)
| |
19 | g.35845772C>G | CA405399989 | NPHS1 | c.1654G>C (p.Ala552Pro)
| |
19 | g.35845772C>T | CA405399987 | NPHS1 | c.1654G>A (p.Ala552Thr)
| |
19 | g.35845773C>A | CA507314270 | NPHS1 | c.1653G>T (p.Leu551=)
| |
19 | g.35845773C>G | CA507314269 | NPHS1 | c.1653G>C (p.Leu551=)
| |
19 | g.35845773C>T | CA507314268 | NPHS1 | c.1653G>A (p.Leu551=)
| |
19 | g.35845774A>C | CA405399991 | NPHS1 | c.1652T>G (p.Leu551Arg)
| |
19 | g.35845774A>G | CA405399993 | NPHS1 | c.1652T>C (p.Leu551Pro)
| |
19 | g.35845774A>T | CA405399995 | NPHS1 | c.1652T>A (p.Leu551Gln)
| |
19 | g.35845775G>A | CA507314271 | NPHS1 | c.1651C>T (p.Leu551=)
| |
19 | g.35845775G>C | CA405399999 | NPHS1 | c.1651C>G (p.Leu551Val)
| |
19 | g.35845775G>T | CA405400001 | NPHS1 | c.1651C>A (p.Leu551Met)
| |
19 | g.35845776G>A | CA507314272 | NPHS1 | c.1650C>T (p.Ile550=)
| ClinVar dbSNP |
19 | g.35845776G>C | CA405400003 | NPHS1 | c.1650C>G (p.Ile550Met)
| |
19 | g.35845776G>T | CA507314273 | NPHS1 | c.1650C>A (p.Ile550=)
| |
19 | g.35845777A>C | CA405400006 | NPHS1 | c.1649T>G (p.Ile550Ser)
| |
19 | g.35845777A>G | CA405400009 | NPHS1 | c.1649T>C (p.Ile550Thr)
| |
19 | g.35845777A>T | CA405400010 | NPHS1 | c.1649T>A (p.Ile550Asn)
| |
19 | g.35845778T>A | CA405400013 | NPHS1 | c.1648A>T (p.Ile550Phe)
| |
19 | g.35845778T>C | CA405400015 | NPHS1 | c.1648A>G (p.Ile550Val)
| |
19 | g.35845778T>G | CA405400018 | NPHS1 | c.1648A>C (p.Ile550Leu)
| |
19 | g.35845779C>A | CA507314274 | NPHS1 | c.1647G>T (p.Thr549=)
| dbSNP |
19 | g.35845779C= | CA2333849093 | NPHS1 | c.1647G= (p.Thr549=)
| |
19 | g.35845779C>G | CA9390365 | NPHS1 | c.1647G>C (p.Thr549=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845779C>T | CA507314275 | NPHS1 | c.1647G>A (p.Thr549=)
| ClinVar dbSNP |
19 | g.35845780G>A | CA405400026 | NPHS1 | c.1646C>T (p.Thr549Met)
| dbSNP |
19 | g.35845780G>C | CA405400021 | NPHS1 | c.1646C>G (p.Thr549Arg)
| gnomAD v4 |
19 | g.35845780G= | CA2333849094 | NPHS1 | c.1646C= (p.Thr549=)
| |
19 | g.35845780G>T | CA405400023 | NPHS1 | c.1646C>A (p.Thr549Lys)
| gnomAD v4 |
19 | g.35845780_35845781dup | CA2584603227 | NPHS1 | c.1645_1646dup (p.Ile550ArgfsTer15)
| gnomAD v4 |
19 | g.35845781T>A | CA405400029 | NPHS1 | c.1645A>T (p.Thr549Ser)
| gnomAD v4 |
19 | g.35845781T>C | CA405400031 | NPHS1 | c.1645A>G (p.Thr549Ala)
| |
19 | g.35845781T>G | CA405400033 | NPHS1 | c.1645A>C (p.Thr549Pro)
| |
19 | g.35845782C>A | CA507314276 | NPHS1 | c.1644G>T (p.Val548=)
| |
19 | g.35845782C>G | CA507314277 | NPHS1 | c.1644G>C (p.Val548=)
| |
19 | g.35845782C>T | CA507314278 | NPHS1 | c.1644G>A (p.Val548=)
| |
19 | g.35845783A>C | CA405400036 | NPHS1 | c.1643T>G (p.Val548Gly)
| |
19 | g.35845783A>G | CA405400038 | NPHS1 | c.1643T>C (p.Val548Ala)
| |
19 | g.35845783A>T | CA405400040 | NPHS1 | c.1643T>A (p.Val548Glu)
| |
19 | g.35845784C>A | CA405400044 | NPHS1 | c.1642G>T (p.Val548Leu)
| gnomAD v4 |
19 | g.35845784C>G | CA405400046 | NPHS1 | c.1642G>C (p.Val548Leu)
| |
19 | g.35845784C>T | CA405400048 | NPHS1 | c.1642G>A (p.Val548Met)
| gnomAD v4 COSMIC |
19 | g.35845785G>A | CA507314279 | NPHS1 | c.1641C>T (p.Asn547=)
| |
19 | g.35845785G>C | CA405400051 | NPHS1 | c.1641C>G (p.Asn547Lys)
| |
19 | g.35845785G= | CA2333849095 | NPHS1 | c.1641C= (p.Asn547=)
| |
19 | g.35845785G>T | CA9390366 | NPHS1 | c.1641C>A (p.Asn547Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845786T>A | CA405400056 | NPHS1 | c.1640A>T (p.Asn547Ile)
| |
19 | g.35845786T>C | CA405400059 | NPHS1 | c.1640A>G (p.Asn547Ser)
| |
19 | g.35845786T>G | CA405400055 | NPHS1 | c.1640A>C (p.Asn547Thr)
| |
19 | g.35845787T>A | CA405400061 | NPHS1 | c.1639A>T (p.Asn547Tyr)
| |
19 | g.35845787T>C | CA405400062 | NPHS1 | c.1639A>G (p.Asn547Asp)
| dbSNP gnomAD v4 |
19 | g.35845787T>G | CA405400064 | NPHS1 | c.1639A>C (p.Asn547His)
| |
19 | g.35845787T= | CA2333849096 | NPHS1 | c.1639A= (p.Asn547=)
| |
19 | g.35845788A= | CA2333849097 | NPHS1 | c.1638T= (p.Thr546=)
| |
19 | g.35845788A>C | CA9390367 | NPHS1 | c.1638T>G (p.Thr546=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845788A>G | CA507314280 | NPHS1 | c.1638T>C (p.Thr546=)
| dbSNP |
19 | g.35845788A>T | CA507314281 | NPHS1 | c.1638T>A (p.Thr546=)
| |
19 | g.35845789G>A | CA405400072 | NPHS1 | c.1637C>T (p.Thr546Ile)
| |
19 | g.35845789G>C | CA405400071 | NPHS1 | c.1637C>G (p.Thr546Ser)
| |
19 | g.35845789G>T | CA405400070 | NPHS1 | c.1637C>A (p.Thr546Asn)
| |
19 | g.35845790T>A | CA405400073 | NPHS1 | c.1636A>T (p.Thr546Ser)
| |
19 | g.35845790T>C | CA405400074 | NPHS1 | c.1636A>G (p.Thr546Ala)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845790T>G | CA405400075 | NPHS1 | c.1636A>C (p.Thr546Pro)
| |
19 | g.35845790T= | CA2333849098 | NPHS1 | c.1636A= (p.Thr546=)
| |
19 | g.35845791T>A | CA507314283 | NPHS1 | c.1635A>T (p.Pro545=)
| |
19 | g.35845791T>C | CA507314284 | NPHS1 | c.1635A>G (p.Pro545=)
| |
19 | g.35845791T>G | CA507314282 | NPHS1 | c.1635A>C (p.Pro545=)
| gnomAD v4 |
19 | g.35845792G>A | CA405400076 | NPHS1 | c.1634C>T (p.Pro545Leu)
| dbSNP |
19 | g.35845792G>C | CA405400077 | NPHS1 | c.1634C>G (p.Pro545Arg)
| |
19 | g.35845792G= | CA2333849099 | NPHS1 | c.1634C= (p.Pro545=)
| |
19 | g.35845792G>T | CA405400078 | NPHS1 | c.1634C>A (p.Pro545Gln)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845794_35845796del | CA2576758862 | NPHS1 | c.1632_1634del (p.Pro545del)
| gnomAD v4 |
19 | g.35845793G>A | CA405400079 | NPHS1 | c.1633C>T (p.Pro545Ser)
| gnomAD v4 |
19 | g.35845793G>C | CA405400081 | NPHS1 | c.1633C>G (p.Pro545Ala)
| COSMIC |
19 | g.35845793G>T | CA405400080 | NPHS1 | c.1633C>A (p.Pro545Thr)
| |
19 | g.35845794G>A | CA507314285 | NPHS1 | c.1632C>T (p.Pro544=)
| gnomAD v4 |
19 | g.35845794G>C | CA507314286 | NPHS1 | c.1632C>G (p.Pro544=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845794G= | CA2333849100 | NPHS1 | c.1632C= (p.Pro544=)
| |
19 | g.35845794G>T | CA507314287 | NPHS1 | c.1632C>A (p.Pro544=)
| |
19 | g.35845795G>A | CA9390368 | NPHS1 | c.1631C>T (p.Pro544Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845795G>C | CA405400083 | NPHS1 | c.1631C>G (p.Pro544Arg)
| |
19 | g.35845795G= | CA2333849101 | NPHS1 | c.1631C= (p.Pro544=)
| |
19 | g.35845795G>T | CA405400082 | NPHS1 | c.1631C>A (p.Pro544His)
| gnomAD v4 |
19 | g.35845796G>A | CA405400084 | NPHS1 | c.1630C>T (p.Pro544Ser)
| |
19 | g.35845796G>C | CA405400085 | NPHS1 | c.1630C>G (p.Pro544Ala)
| |
19 | g.35845796G= | CA2333849102 | NPHS1 | c.1630C= (p.Pro544=)
| |
19 | g.35845796G>T | CA405400086 | NPHS1 | c.1630C>A (p.Pro544Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845797A>C | CA405400087 | NPHS1 | c.1629T>G (p.Phe543Leu)
| |
19 | g.35845797A>G | CA507314288 | NPHS1 | c.1629T>C (p.Phe543=)
| |
19 | g.35845797A>T | CA405400088 | NPHS1 | c.1629T>A (p.Phe543Leu)
| |
19 | g.35845798A>C | CA405400089 | NPHS1 | c.1628T>G (p.Phe543Cys)
| |
19 | g.35845798A>G | CA405400090 | NPHS1 | c.1628T>C (p.Phe543Ser)
| |
19 | g.35845798A>T | CA405400091 | NPHS1 | c.1628T>A (p.Phe543Tyr)
| |
19 | g.35845799C>A | CA405400092 | NPHS1 | c.1628-1G>T (n.1628-1G>T)
| |
19 | g.35845799C>G | CA405400093 | NPHS1 | c.1628-1G>C (n.1628-1G>C)
| |
19 | g.35845799C>T | CA405400094 | NPHS1 | c.1628-1G>A (n.1628-1G>A)
| |
19 | g.35845800T>A | CA405400097 | NPHS1 | c.1628-2A>T (n.1628-2A>T)
| |
19 | g.35845800T>C | CA405400096 | NPHS1 | c.1628-2A>G (n.1628-2A>G)
| |
19 | g.35845800T>G | CA405400095 | NPHS1 | c.1628-2A>C (n.1628-2A>C)
| |
19 | g.35845801G>A | CA2333849104 | NPHS1 | c.1628-3C>T (n.1628-3C>T)
| dbSNP |
19 | g.35845801G= | CA2333849103 | NPHS1 | c.1628-3C= (n.1628-3C=)
| |
19 | g.35845802G>A | CA2697556471 | NPHS1 | c.1628-4C>T (n.1628-4C>T)
| ClinVar |
19 | g.35845803G>A | CA307785259 | NPHS1 | c.1628-5C>T (n.1628-5C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845803G= | CA2333849105 | NPHS1 | c.1628-5C= (n.1628-5C=)
| |
19 | g.35845804A= | CA2333849106 | NPHS1 | c.1628-6T= (n.1628-6T=)
| |
19 | g.35845804A>C | CA2333849107 | NPHS1 | c.1628-6T>G (n.1628-6T>G)
| dbSNP gnomAD v4 |
19 | g.35845804A>G | CA9390369 | NPHS1 | c.1628-6T>C (n.1628-6T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845806A= | CA2333849108 | NPHS1 | c.1628-8T= (n.1628-8T=)
| |
19 | g.35845806A>G | CA633060919 | NPHS1 | c.1628-8T>C (n.1628-8T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845807C>A | CA2576758863 | NPHS1 | c.1628-9G>T (n.1628-9G>T)
| |
19 | g.35845807_35845808delinsCG | CA2333849109 | NPHS1 | c.1628-10_1628-9delinsCG (n.1628-10_1628-9delinsCG)
| |
19 | g.35845808G>A | CA881818111 | NPHS1 | c.1628-10C>T (n.1628-10C>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845808G>C | CA307785280 | NPHS1 | c.1628-10C>G (n.1628-10C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845808G= | CA2333849110 | NPHS1 | c.1628-10C= (n.1628-10C=)
| |
19 | g.35845808G>T | CA2576758864 | NPHS1 | c.1628-10C>A (n.1628-10C>A)
| gnomAD v4 |
19 | g.35845811del | CA9390370 | NPHS1 | c.1628-10del (n.1628-10del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845809G>A | CA2333849112 | NPHS1 | c.1628-11C>T (n.1628-11C>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845809G= | CA2333849111 | NPHS1 | c.1628-11C= (n.1628-11C=)
| |
19 | g.35845810G>A | CA2333849114 | NPHS1 | c.1628-12C>T (n.1628-12C>T)
| dbSNP gnomAD v4 |
19 | g.35845810G= | CA2333849113 | NPHS1 | c.1628-12C= (n.1628-12C=)
| |
19 | g.35845811G>A | CA9390371 | NPHS1 | c.1628-13C>T (n.1628-13C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845811G= | CA2333849115 | NPHS1 | c.1628-13C= (n.1628-13C=)
| |
19 | g.35845813T>C | CA2584603228 | NPHS1 | c.1628-15A>G (n.1628-15A>G)
| gnomAD v4 |
19 | g.35845815G>A | CA995500003 | NPHS1 | c.1628-17C>T (n.1628-17C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845815G>C | CA2576758865 | NPHS1 | c.1628-17C>G (n.1628-17C>G)
| gnomAD v4 |
19 | g.35845815G= | CA2333849116 | NPHS1 | c.1628-17C= (n.1628-17C=)
| |
19 | g.35845817G>C | CA2333849118 | NPHS1 | c.1628-19C>G (n.1628-19C>G)
| dbSNP gnomAD v4 |
19 | g.35845817G= | CA2333849117 | NPHS1 | c.1628-19C= (n.1628-19C=)
| |
19 | g.35845818G>A | CA2333849120 | NPHS1 | c.1628-20C>T (n.1628-20C>T)
| dbSNP |
19 | g.35845818G>C | CA507314289 | NPHS1 | c.1628-20C>G (n.1628-20C>G)
| gnomAD v4 |
19 | g.35845818G= | CA2333849119 | NPHS1 | c.1628-20C= (n.1628-20C=)
| |
19 | g.35845819del | CA2576758866 | NPHS1 | c.1628-21del (n.1628-21del)
| gnomAD v4 |
19 | g.35845821C>A | CA2584603229 | NPHS1 | c.1628-23G>T (n.1628-23G>T)
| gnomAD v4 |
19 | g.35845821_35845823delinsCGA | CA2333849121 | NPHS1 | c.1628-25_1628-23delinsTCG (n.1628-25_1628-23delinsTCG)
| |
19 | g.35845822G>A | CA2584603230 | NPHS1 | c.1628-24C>T (n.1628-24C>T)
| gnomAD v4 |
19 | g.35845822G>C | CA633060921 | NPHS1 | c.1628-24C>G (n.1628-24C>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845822G= | CA2333849122 | NPHS1 | c.1628-24C= (n.1628-24C=)
| |
19 | g.35845824_35845825del | CA633060920 | NPHS1 | c.1628-25_1628-24del (n.1628-25_1628-24del)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845823A= | CA2333849123 | NPHS1 | c.1628-25T= (n.1628-25T=)
| |
19 | g.35845823A>C | CA307785290 | NPHS1 | c.1628-25T>G (n.1628-25T>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845824G>C | CA633060922 | NPHS1 | c.1628-26C>G (n.1628-26C>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845824G= | CA2333849124 | NPHS1 | c.1628-26C= (n.1628-26C=)
| |
19 | g.35845826C>T | CA2584603231 | NPHS1 | c.1628-28G>A (n.1628-28G>A)
| gnomAD v4 |
19 | g.35845829A= | CA2333849125 | NPHS1 | c.1628-31T= (n.1628-31T=)
| |
19 | g.35845829A>C | CA9390372 | NPHS1 | c.1628-31T>G (n.1628-31T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845831_35845832del | CA2576758867 | NPHS1 | c.1628-32_1628-31del (n.1628-32_1628-31del)
| |