19 | g.35849303C>A | CA405407122 | NPHS1 | c.773G>T (p.Gly258Val)
| |
19 | g.35849303C= | CA2333850833 | NPHS1 | c.773G= (p.Gly258=)
| |
19 | g.35849303C>G | CA405407124 | NPHS1 | c.773G>C (p.Gly258Ala)
| dbSNP gnomAD v4 |
19 | g.35849303C>T | CA405407123 | NPHS1 | c.773G>A (p.Gly258Glu)
| |
19 | g.35849304C>A | CA405407125 | NPHS1 | c.772G>T (p.Gly258Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849304C= | CA2333850834 | NPHS1 | c.772G= (p.Gly258=)
| |
19 | g.35849304C>G | CA405407126 | NPHS1 | c.772G>C (p.Gly258Arg)
| |
19 | g.35849304C>T | CA405407127 | NPHS1 | c.772G>A (p.Gly258Arg)
| COSMIC |
19 | g.35849305T>A | CA507314623 | NPHS1 | c.771A>T (p.Ala257=)
| |
19 | g.35849305T>C | CA507314624 | NPHS1 | c.771A>G (p.Ala257=)
| gnomAD v4 |
19 | g.35849305T>G | CA507314625 | NPHS1 | c.771A>C (p.Ala257=)
| |
19 | g.35849306G>A | CA405407128 | NPHS1 | c.770C>T (p.Ala257Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849306G>C | CA405407129 | NPHS1 | c.770C>G (p.Ala257Gly)
| |
19 | g.35849306G= | CA2333850835 | NPHS1 | c.770C= (p.Ala257=)
| |
19 | g.35849306G>T | CA405407130 | NPHS1 | c.770C>A (p.Ala257Glu)
| gnomAD v4 |
19 | g.35849307C>A | CA405407131 | NPHS1 | c.769G>T (p.Ala257Ser)
| gnomAD v4 |
19 | g.35849307C= | CA2333850836 | NPHS1 | c.769G= (p.Ala257=)
| |
19 | g.35849307C>G | CA405407132 | NPHS1 | c.769G>C (p.Ala257Pro)
| |
19 | g.35849307C>T | CA405407133 | NPHS1 | c.769G>A (p.Ala257Thr)
| dbSNP COSMIC |
19 | g.35849308C>A | CA507314631 | NPHS1 | c.768G>T (p.Arg256=)
| |
19 | g.35849308C= | CA2333850837 | NPHS1 | c.768G= (p.Arg256=)
| |
19 | g.35849308C>G | CA507314633 | NPHS1 | c.768G>C (p.Arg256=)
| |
19 | g.35849308C>T | CA9390662 | NPHS1 | c.768G>A (p.Arg256=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849309C>A | CA405407134 | NPHS1 | c.767G>T (p.Arg256Leu)
| dbSNP |
19 | g.35849309C= | CA2333850838 | NPHS1 | c.767G= (p.Arg256=)
| |
19 | g.35849309C>G | CA405407135 | NPHS1 | c.767G>C (p.Arg256Pro)
| |
19 | g.35849309C>T | CA9390663 | NPHS1 | c.767G>A (p.Arg256Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849310G>A | CA250273 | NPHS1 | c.766C>T (p.Arg256Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849310G>C | CA9390664 | NPHS1 | c.766C>G (p.Arg256Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849310G= | CA2333850839 | NPHS1 | c.766C= (p.Arg256=)
| |
19 | g.35849310G>T | CA507314635 | NPHS1 | c.766C>A (p.Arg256=)
| gnomAD v4 |
19 | g.35849311C>A | CA507314637 | NPHS1 | c.765G>T (p.Val255=)
| |
19 | g.35849311C>G | CA507314639 | NPHS1 | c.765G>C (p.Val255=)
| |
19 | g.35849311C>T | CA507314640 | NPHS1 | c.765G>A (p.Val255=)
| |
19 | g.35849312A>C | CA405407136 | NPHS1 | c.764T>G (p.Val255Gly)
| |
19 | g.35849312A>G | CA405407137 | NPHS1 | c.764T>C (p.Val255Ala)
| |
19 | g.35849312A>T | CA405407138 | NPHS1 | c.764T>A (p.Val255Glu)
| |
19 | g.35849313C>A | CA9390665 | NPHS1 | c.763G>T (p.Val255Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849313C= | CA2333850840 | NPHS1 | c.763G= (p.Val255=)
| |
19 | g.35849313C>G | CA405407139 | NPHS1 | c.763G>C (p.Val255Leu)
| gnomAD v4 |
19 | g.35849313C>T | CA9390666 | NPHS1 | c.763G>A (p.Val255Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849314G>A | CA9390668 | NPHS1 | c.762C>T (p.His254=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35849314G>C | CA405407140 | NPHS1 | c.762C>G (p.His254Gln)
| gnomAD v4 |
19 | g.35849314G= | CA2333850841 | NPHS1 | c.762C= (p.His254=)
| |
19 | g.35849314G>T | CA9390667 | NPHS1 | c.762C>A (p.His254Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849315T>A | CA405407141 | NPHS1 | c.761A>T (p.His254Leu)
| |
19 | g.35849315T>C | CA405407142 | NPHS1 | c.761A>G (p.His254Arg)
| |
19 | g.35849315T>G | CA405407143 | NPHS1 | c.761A>C (p.His254Pro)
| |
19 | g.35849316G>A | CA9390669 | NPHS1 | c.760C>T (p.His254Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849316G>C | CA405407144 | NPHS1 | c.760C>G (p.His254Asp)
| dbSNP gnomAD v2 |
19 | g.35849316G= | CA2333850842 | NPHS1 | c.760C= (p.His254=)
| |
19 | g.35849316G>T | CA405407145 | NPHS1 | c.760C>A (p.His254Asn)
| |
19 | g.35849317C>A | CA507314655 | NPHS1 | c.759G>T (p.Gly253=)
| |
19 | g.35849317C= | CA2333850843 | NPHS1 | c.759G= (p.Gly253=)
| |
19 | g.35849317C>G | CA507314653 | NPHS1 | c.759G>C (p.Gly253=)
| |
19 | g.35849317C>T | CA9390670 | NPHS1 | c.759G>A (p.Gly253=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849318C>A | CA405407146 | NPHS1 | c.758G>T (p.Gly253Val)
| |
19 | g.35849318C>G | CA405407147 | NPHS1 | c.758G>C (p.Gly253Ala)
| |
19 | g.35849318C>T | CA405407148 | NPHS1 | c.758G>A (p.Gly253Glu)
| COSMIC |
19 | g.35849319C>A | CA405407149 | NPHS1 | c.757G>T (p.Gly253Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849319C= | CA2333850844 | NPHS1 | c.757G= (p.Gly253=)
| |
19 | g.35849319C>G | CA405407150 | NPHS1 | c.757G>C (p.Gly253Arg)
| |
19 | g.35849319C>T | CA405407151 | NPHS1 | c.757G>A (p.Gly253Arg)
| |
19 | g.35849320C>A | CA405407152 | NPHS1 | c.756G>T (p.Glu252Asp)
| |
19 | g.35849320C>G | CA405407153 | NPHS1 | c.756G>C (p.Glu252Asp)
| |
19 | g.35849320C>T | CA507314660 | NPHS1 | c.756G>A (p.Glu252=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849321T>A | CA405407154 | NPHS1 | c.755A>T (p.Glu252Val)
| |
19 | g.35849321T>C | CA405407155 | NPHS1 | c.755A>G (p.Glu252Gly)
| |
19 | g.35849321T>G | CA405407156 | NPHS1 | c.755A>C (p.Glu252Ala)
| |
19 | g.35849321dup | CA2584603916 | NPHS1 | c.755dup (p.His254AlafsTer18)
| gnomAD v4 |
19 | g.35849322C>A | CA405407157 | NPHS1 | c.754G>T (p.Glu252Ter)
| dbSNP |
19 | g.35849322C= | CA2333850845 | NPHS1 | c.754G= (p.Glu252=)
| |
19 | g.35849322C>G | CA405407159 | NPHS1 | c.754G>C (p.Glu252Gln)
| |
19 | g.35849322C>T | CA405407158 | NPHS1 | c.754G>A (p.Glu252Lys)
| |
19 | g.35849323A>C | CA405407160 | NPHS1 | c.753T>G (p.Asp251Glu)
| gnomAD v4 |
19 | g.35849323A>G | CA507314663 | NPHS1 | c.753T>C (p.Asp251=)
| |
19 | g.35849323A>T | CA405407161 | NPHS1 | c.753T>A (p.Asp251Glu)
| |
19 | g.35849324T>A | CA405407162 | NPHS1 | c.752A>T (p.Asp251Val)
| |
19 | g.35849324T>C | CA405407163 | NPHS1 | c.752A>G (p.Asp251Gly)
| |
19 | g.35849324T>G | CA405407164 | NPHS1 | c.752A>C (p.Asp251Ala)
| |
19 | g.35849325C>A | CA405407165 | NPHS1 | c.751G>T (p.Asp251Tyr)
| |
19 | g.35849325C= | CA2333850846 | NPHS1 | c.751G= (p.Asp251=)
| |
19 | g.35849325C>G | CA405407166 | NPHS1 | c.751G>C (p.Asp251His)
| |
19 | g.35849325C>T | CA405407167 | NPHS1 | c.751G>A (p.Asp251Asn)
| dbSNP gnomAD v4 COSMIC |
19 | g.35849326C>A | CA507314671 | NPHS1 | c.750G>T (p.Leu250=)
| |
19 | g.35849326C= | CA2333850847 | NPHS1 | c.750G= (p.Leu250=)
| |
19 | g.35849326C>G | CA507314672 | NPHS1 | c.750G>C (p.Leu250=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849326C>T | CA507314673 | NPHS1 | c.750G>A (p.Leu250=)
| |
19 | g.35849327A>C | CA405407168 | NPHS1 | c.749T>G (p.Leu250Arg)
| |
19 | g.35849327A>G | CA405407169 | NPHS1 | c.749T>C (p.Leu250Pro)
| |
19 | g.35849327A>T | CA405407170 | NPHS1 | c.749T>A (p.Leu250Gln)
| |
19 | g.35849328G>A | CA507314676 | NPHS1 | c.748C>T (p.Leu250=)
| |
19 | g.35849328G>C | CA405407171 | NPHS1 | c.748C>G (p.Leu250Val)
| |
19 | g.35849328G>T | CA405407172 | NPHS1 | c.748C>A (p.Leu250Met)
| gnomAD v4 |
19 | g.35849329G>A | CA507314680 | NPHS1 | c.747C>T (p.Gly249=)
| dbSNP gnomAD v2 |
19 | g.35849329G>C | CA507314678 | NPHS1 | c.747C>G (p.Gly249=)
| |
19 | g.35849329G= | CA2333850848 | NPHS1 | c.747C= (p.Gly249=)
| |
19 | g.35849329G>T | CA507314679 | NPHS1 | c.747C>A (p.Gly249=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849330C>A | CA405407173 | NPHS1 | c.746G>T (p.Gly249Val)
| |
19 | g.35849330C>G | CA405407175 | NPHS1 | c.746G>C (p.Gly249Ala)
| |
19 | g.35849330C>T | CA405407174 | NPHS1 | c.746G>A (p.Gly249Asp)
| |
19 | g.35849331C>A | CA405407176 | NPHS1 | c.745G>T (p.Gly249Cys)
| |
19 | g.35849331C>G | CA405407177 | NPHS1 | c.745G>C (p.Gly249Arg)
| |
19 | g.35849331C>T | CA405407178 | NPHS1 | c.745G>A (p.Gly249Ser)
| |
19 | g.35849332T>A | CA507314682 | NPHS1 | c.744A>T (p.Pro248=)
| |
19 | g.35849332T>C | CA507314683 | NPHS1 | c.744A>G (p.Pro248=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849332T>G | CA507314684 | NPHS1 | c.744A>C (p.Pro248=)
| |
19 | g.35849332T= | CA2333850849 | NPHS1 | c.744A= (p.Pro248=)
| |
19 | g.35849333G>A | CA405407180 | NPHS1 | c.743C>T (p.Pro248Leu)
| |
19 | g.35849333G>C | CA405407181 | NPHS1 | c.743C>G (p.Pro248Arg)
| gnomAD v4 |
19 | g.35849333G>T | CA405407183 | NPHS1 | c.743C>A (p.Pro248Gln)
| |
19 | g.35849334G>A | CA307788090 | NPHS1 | c.742C>T (p.Pro248Ser)
| dbSNP gnomAD v4 |
19 | g.35849334G>C | CA405407186 | NPHS1 | c.742C>G (p.Pro248Ala)
| |
19 | g.35849334G= | CA2333850850 | NPHS1 | c.742C= (p.Pro248=)
| |
19 | g.35849334G>T | CA405407189 | NPHS1 | c.742C>A (p.Pro248Thr)
| |
19 | g.35849335C>A | CA9390671 | NPHS1 | c.741G>T (p.Trp247Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849335C= | CA2333850851 | NPHS1 | c.741G= (p.Trp247=)
| |
19 | g.35849335C>G | CA405407196 | NPHS1 | c.741G>C (p.Trp247Cys)
| |
19 | g.35849335C>T | CA405407193 | NPHS1 | c.741G>A (p.Trp247Ter)
| |
19 | g.35849336C>A | CA405407202 | NPHS1 | c.740G>T (p.Trp247Leu)
| |
19 | g.35849336C= | CA2333850852 | NPHS1 | c.740G= (p.Trp247=)
| |
19 | g.35849336C>G | CA405407210 | NPHS1 | c.740G>C (p.Trp247Ser)
| |
19 | g.35849336C>T | CA405407206 | NPHS1 | c.740G>A (p.Trp247Ter)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849337del | CA2695198195 | NPHS1 | c.739del (p.Trp247GlyfsTer27)
| ClinVar |
19 | g.35849337A>C | CA405407214 | NPHS1 | c.739T>G (p.Trp247Gly)
| |
19 | g.35849337A>G | CA405407218 | NPHS1 | c.739T>C (p.Trp247Arg)
| |
19 | g.35849337A>T | CA405407216 | NPHS1 | c.739T>A (p.Trp247Arg)
| |
19 | g.35849338C>A | CA405407223 | NPHS1 | c.738G>T (p.Glu246Asp)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849338C= | CA2333850853 | NPHS1 | c.738G= (p.Glu246=)
| |
19 | g.35849338C>G | CA405407225 | NPHS1 | c.738G>C (p.Glu246Asp)
| |
19 | g.35849338C>T | CA507314692 | NPHS1 | c.738G>A (p.Glu246=)
| gnomAD v4 |
19 | g.35849339T>A | CA405407230 | NPHS1 | c.737A>T (p.Glu246Val)
| |
19 | g.35849339T>C | CA405407234 | NPHS1 | c.737A>G (p.Glu246Gly)
| |
19 | g.35849339T>G | CA405407237 | NPHS1 | c.737A>C (p.Glu246Ala)
| |
19 | g.35849340C>A | CA250270 | NPHS1 | c.736G>T (p.Glu246Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849340C= | CA2333850854 | NPHS1 | c.736G= (p.Glu246=)
| |
19 | g.35849340C>G | CA405407245 | NPHS1 | c.736G>C (p.Glu246Gln)
| |
19 | g.35849340C>T | CA9390672 | NPHS1 | c.736G>A (p.Glu246Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849341G>A | CA507314693 | NPHS1 | c.735C>T (p.Ile245=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849341G>C | CA405407249 | NPHS1 | c.735C>G (p.Ile245Met)
| |
19 | g.35849341G= | CA2333850856 | NPHS1 | c.735C= (p.Ile245=)
| |
19 | g.35849341G>T | CA507314694 | NPHS1 | c.735C>A (p.Ile245=)
| dbSNP |
19 | g.35849341_35849365delinsGATGACAGGGGGTCCTGGAGGGACT | CA2333850855 | NPHS1 | c.713-2_735delinsAGTCCCTCCAGGACCCCCTGTCATC
| |
19 | g.35849342A>C | CA405407252 | NPHS1 | c.734T>G (p.Ile245Ser)
| |
19 | g.35849342A>G | CA405407255 | NPHS1 | c.734T>C (p.Ile245Thr)
| |
19 | g.35849342A>T | CA405407258 | NPHS1 | c.734T>A (p.Ile245Asn)
| |
19 | g.35849342_35849365del | CA633060973 | NPHS1 | c.713-2_734del
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849343T>A | CA405407266 | NPHS1 | c.733A>T (p.Ile245Phe)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849343T>C | CA307788131 | NPHS1 | c.733A>G (p.Ile245Val)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849343T>G | CA9390673 | NPHS1 | c.733A>C (p.Ile245Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849343T= | CA2333850857 | NPHS1 | c.733A= (p.Ile245=)
| |
19 | g.35849344G>A | CA507314700 | NPHS1 | c.732C>T (p.Val244=)
| |
19 | g.35849344G>C | CA507314701 | NPHS1 | c.732C>G (p.Val244=)
| |
19 | g.35849344G>T | CA507314702 | NPHS1 | c.732C>A (p.Val244=)
| |
19 | g.35849345A>C | CA405407275 | NPHS1 | c.731T>G (p.Val244Gly)
| |
19 | g.35849345A>G | CA405407278 | NPHS1 | c.731T>C (p.Val244Ala)
| |
19 | g.35849345A>T | CA405407282 | NPHS1 | c.731T>A (p.Val244Asp)
| |
19 | g.35849346C>A | CA9390675 | NPHS1 | c.730G>T (p.Val244Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849346C= | CA2333850859 | NPHS1 | c.730G= (p.Val244=)
| |
19 | g.35849346C>G | CA405407290 | NPHS1 | c.730G>C (p.Val244Leu)
| |
19 | g.35849346C>T | CA9390674 | NPHS1 | c.730G>A (p.Val244Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849346_35849348delinsCAG | CA2333850858 | NPHS1 | c.728_730delinsCTG (p.Pro243=)
| |
19 | g.35849347del | CA2584603917 | NPHS1 | c.729del (p.Val244SerfsTer?)
| gnomAD v4 |
19 | g.35849347A= | CA2333850860 | NPHS1 | c.729T= (p.Pro243=)
| |
19 | g.35849347A>C | CA507314707 | NPHS1 | c.729T>G (p.Pro243=)
| |
19 | g.35849347A>G | CA507314709 | NPHS1 | c.729T>C (p.Pro243=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849347A>T | CA507314710 | NPHS1 | c.729T>A (p.Pro243=)
| |
19 | g.35849347_35849348del | CA633060974 | NPHS1 | c.728_729del (p.Pro243ArgfsTer9)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849348G>A | CA307788164 | NPHS1 | c.728C>T (p.Pro243Leu)
| ClinVar dbSNP |
19 | g.35849348G>C | CA405407295 | NPHS1 | c.728C>G (p.Pro243Arg)
| |
19 | g.35849348G= | CA2333850861 | NPHS1 | c.728C= (p.Pro243=)
| |
19 | g.35849348G>T | CA405407298 | NPHS1 | c.728C>A (p.Pro243His)
| |
19 | g.35849349G>A | CA405407305 | NPHS1 | c.727C>T (p.Pro243Ser)
| |
19 | g.35849349G>C | CA405407307 | NPHS1 | c.727C>G (p.Pro243Ala)
| |
19 | g.35849349G>T | CA405407302 | NPHS1 | c.727C>A (p.Pro243Thr)
| |
19 | g.35849350G>A | CA10642637 | NPHS1 | c.726C>T (p.Pro242=)
| ClinVar dbSNP |
19 | g.35849350G>C | CA507314714 | NPHS1 | c.726C>G (p.Pro242=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849350G= | CA2333850862 | NPHS1 | c.726C= (p.Pro242=)
| |
19 | g.35849350G>T | CA507314713 | NPHS1 | c.726C>A (p.Pro242=)
| gnomAD v4 |
19 | g.35849351G>A | CA405407311 | NPHS1 | c.725C>T (p.Pro242Leu)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849351G>C | CA405407314 | NPHS1 | c.725C>G (p.Pro242Arg)
| gnomAD v4 |
19 | g.35849351G= | CA2333850863 | NPHS1 | c.725C= (p.Pro242=)
| |
19 | g.35849351G>T | CA405407318 | NPHS1 | c.725C>A (p.Pro242His)
| |
19 | g.35849352G>A | CA405407327 | NPHS1 | c.724C>T (p.Pro242Ser)
| |
19 | g.35849352G>C | CA9390676 | NPHS1 | c.724C>G (p.Pro242Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849352G= | CA2333850864 | NPHS1 | c.724C= (p.Pro242=)
| |
19 | g.35849352G>T | CA405407322 | NPHS1 | c.724C>A (p.Pro242Thr)
| gnomAD v4 |
19 | g.35849353T>A | CA507314716 | NPHS1 | c.723A>T (p.Gly241=)
| |
19 | g.35849353T>C | CA507314719 | NPHS1 | c.723A>G (p.Gly241=)
| |
19 | g.35849353T>G | CA507314720 | NPHS1 | c.723A>C (p.Gly241=)
| |
19 | g.35849354C>A | CA405407332 | NPHS1 | c.722G>T (p.Gly241Val)
| |
19 | g.35849354C= | CA2333850865 | NPHS1 | c.722G= (p.Gly241=)
| |
19 | g.35849354C>G | CA405407335 | NPHS1 | c.722G>C (p.Gly241Ala)
| COSMIC |
19 | g.35849354C>T | CA9390677 | NPHS1 | c.722G>A (p.Gly241Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849355C>A | CA405407342 | NPHS1 | c.721G>T (p.Gly241Ter)
| gnomAD v4 |
19 | g.35849355C>G | CA405407345 | NPHS1 | c.721G>C (p.Gly241Arg)
| |
19 | g.35849355C>T | CA405407348 | NPHS1 | c.721G>A (p.Gly241Arg)
| gnomAD v4 |
19 | g.35849356T>A | CA507314722 | NPHS1 | c.720A>T (p.Pro240=)
| |
19 | g.35849356T>C | CA507314723 | NPHS1 | c.720A>G (p.Pro240=)
| |
19 | g.35849356T>G | CA507314724 | NPHS1 | c.720A>C (p.Pro240=)
| gnomAD v4 |
19 | g.35849357G>A | CA405407352 | NPHS1 | c.719C>T (p.Pro240Leu)
| |
19 | g.35849357G>C | CA405407359 | NPHS1 | c.719C>G (p.Pro240Arg)
| |
19 | g.35849357G>T | CA405407356 | NPHS1 | c.719C>A (p.Pro240Gln)
| |
19 | g.35849358G>A | CA405407363 | NPHS1 | c.718C>T (p.Pro240Ser)
| |
19 | g.35849358G>C | CA405407365 | NPHS1 | c.718C>G (p.Pro240Ala)
| |
19 | g.35849358G>T | CA405407368 | NPHS1 | c.718C>A (p.Pro240Thr)
| |
19 | g.35849359A>C | CA507314725 | NPHS1 | c.717T>G (p.Pro239=)
| |
19 | g.35849359A>G | CA507314726 | NPHS1 | c.717T>C (p.Pro239=)
| |
19 | g.35849359A>T | CA507314728 | NPHS1 | c.717T>A (p.Pro239=)
| |
19 | g.35849360G>A | CA405407372 | NPHS1 | c.716C>T (p.Pro239Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849360G>C | CA405407375 | NPHS1 | c.716C>G (p.Pro239Arg)
| |
19 | g.35849360G= | CA2333850866 | NPHS1 | c.716C= (p.Pro239=)
| |
19 | g.35849360G>T | CA405407377 | NPHS1 | c.716C>A (p.Pro239His)
| |
19 | g.35849361G>A | CA405407382 | NPHS1 | c.715C>T (p.Pro239Ser)
| COSMIC |
19 | g.35849361G>C | CA405407386 | NPHS1 | c.715C>G (p.Pro239Ala)
| |
19 | g.35849361G>T | CA405407389 | NPHS1 | c.715C>A (p.Pro239Thr)
| COSMIC |
19 | g.35849361_35849362delinsAA | CA645619649 | NPHS1 | c.714_715delinsTT (p.Pro239Ser)
| COSMIC |
19 | g.35849362G>A | CA507314730 | NPHS1 | c.714C>T (p.Phe238=)
| |
19 | g.35849362G>C | CA405407394 | NPHS1 | c.714C>G (p.Phe238Leu)
| |
19 | g.35849362G>T | CA405407396 | NPHS1 | c.714C>A (p.Phe238Leu)
| COSMIC |
19 | g.35849363A>C | CA405407405 | NPHS1 | c.713T>G (p.Phe238Cys)
| |
19 | g.35849363A>G | CA405407403 | NPHS1 | c.713T>C (p.Phe238Ser)
| |
19 | g.35849363A>T | CA405407401 | NPHS1 | c.713T>A (p.Phe238Tyr)
| |
19 | g.35849364C>A | CA405407407 | NPHS1 | c.713-1G>T (n.713-1G>T)
| |
19 | g.35849364C>G | CA405407413 | NPHS1 | c.713-1G>C (n.713-1G>C)
| gnomAD v4 |
19 | g.35849364C>T | CA405407410 | NPHS1 | c.713-1G>A (n.713-1G>A)
| ClinVar gnomAD v4 |
19 | g.35849365T>A | CA405407418 | NPHS1 | c.713-2A>T (n.713-2A>T)
| ClinVar dbSNP |
19 | g.35849365T>C | CA405407420 | NPHS1 | c.713-2A>G (n.713-2A>G)
| |
19 | g.35849365T>G | CA405407423 | NPHS1 | c.713-2A>C (n.713-2A>C)
| |
19 | g.35849366G>A | CA2333850868 | NPHS1 | c.713-3C>T (n.713-3C>T)
| dbSNP gnomAD v4 |
19 | g.35849366G= | CA2333850867 | NPHS1 | c.713-3C= (n.713-3C=)
| |
19 | g.35849367G>A | CA633060975 | NPHS1 | c.713-4C>T (n.713-4C>T)
| dbSNP gnomAD v2 |
19 | g.35849367G= | CA2333850869 | NPHS1 | c.713-4C= (n.713-4C=)
| |
19 | g.35849368G>A | CA2333850871 | NPHS1 | c.713-5C>T (n.713-5C>T)
| ClinVar dbSNP |
19 | g.35849368G= | CA2333850870 | NPHS1 | c.713-5C= (n.713-5C=)
| |
19 | g.35849369G>A | CA9390678 | NPHS1 | c.713-6C>T (n.713-6C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849369G>C | CA2573156264 | NPHS1 | c.713-6C>G (n.713-6C>G)
| ClinVar dbSNP |
19 | g.35849369G= | CA2333850872 | NPHS1 | c.713-6C= (n.713-6C=)
| |
19 | g.35849370G>A | CA9390679 | NPHS1 | c.713-7C>T (n.713-7C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35849370G>C | CA881820849 | NPHS1 | c.713-7C>G (n.713-7C>G)
| dbSNP |
19 | g.35849370G= | CA2333850873 | NPHS1 | c.713-7C= (n.713-7C=)
| |
19 | g.35849370G>T | CA2580096888 | NPHS1 | c.713-7C>A (n.713-7C>A)
| ClinVar |
19 | g.35849370_35849372del | CA2536252057 | NPHS1 | c.713-9_713-7del (n.713-9_713-7del)
| |
19 | g.35849371del | CA2739276692 | NPHS1 | c.713-8del (n.713-8del)
| ClinVar |
19 | g.35849371A= | CA2333850874 | NPHS1 | c.713-8T= (n.713-8T=)
| |
19 | g.35849371A>G | CA633060976 | NPHS1 | c.713-8T>C (n.713-8T>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849373A= | CA2333850875 | NPHS1 | c.713-10T= (n.713-10T=)
| |
19 | g.35849373A>G | CA9390680 | NPHS1 | c.713-10T>C (n.713-10T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849376A>C | CA2584603918 | NPHS1 | c.713-13T>G (n.713-13T>G)
| gnomAD v4 |
19 | g.35849376A>G | CA2584603919 | NPHS1 | c.713-13T>C (n.713-13T>C)
| gnomAD v4 |
19 | g.35849377G>A | CA633060977 | NPHS1 | c.713-14C>T (n.713-14C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849377G= | CA2333850876 | NPHS1 | c.713-14C= (n.713-14C=)
| |
19 | g.35849378T= | CA2333850877 | NPHS1 | c.713-15A= (n.713-15A=)
| |
19 | g.35849379C>A | CA2584603921 | NPHS1 | c.713-16G>T (n.713-16G>T)
| gnomAD v4 |
19 | g.35849379C>T | CA2584603920 | NPHS1 | c.713-16G>A (n.713-16G>A)
| gnomAD v4 |
19 | g.35849379dup | CA633060978 | NPHS1 | c.713-16dup (n.713-16dup)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849381C= | CA2333850878 | NPHS1 | c.713-18G= (n.713-18G=)
| |
19 | g.35849381C>T | CA307788180 | NPHS1 | c.713-18G>A (n.713-18G>A)
| ClinVar dbSNP gnomAD v4 |
19 | g.35849382T>C | CA9390681 | NPHS1 | c.713-19A>G (n.713-19A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849382T= | CA2333850879 | NPHS1 | c.713-19A= (n.713-19A=)
| |
19 | g.35849388G>A | CA2333850881 | NPHS1 | c.713-25C>T (n.713-25C>T)
| dbSNP |
19 | g.35849388G= | CA2333850880 | NPHS1 | c.713-25C= (n.713-25C=)
| |
19 | g.35849389G>A | CA633060979 | NPHS1 | c.713-26C>T (n.713-26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849389G>C | CA2584603922 | NPHS1 | c.713-26C>G (n.713-26C>G)
| gnomAD v4 |
19 | g.35849389G= | CA2333850882 | NPHS1 | c.713-26C= (n.713-26C=)
| |
19 | g.35849390C>G | CA2584603923 | NPHS1 | c.713-27G>C (n.713-27G>C)
| gnomAD v4 |
19 | g.35849390C>T | CA2584603924 | NPHS1 | c.713-27G>A (n.713-27G>A)
| gnomAD v4 |
19 | g.35849391C>A | CA2527606865 | NPHS1 | c.713-28G>T (n.713-28G>T)
| |
19 | g.35849393G>T | CA2584603925 | NPHS1 | c.713-30C>A (n.713-30C>A)
| gnomAD v4 |
19 | g.35849394G>A | CA2576758973 | NPHS1 | c.713-31C>T (n.713-31C>T)
| |
19 | g.35849394G>T | CA2584603926 | NPHS1 | c.713-31C>A (n.713-31C>A)
| gnomAD v4 |
19 | g.35849396G>A | CA633060980 | NPHS1 | c.713-33C>T (n.713-33C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849396G= | CA2333850883 | NPHS1 | c.713-33C= (n.713-33C=)
| |
19 | g.35849399G>A | CA2333850885 | NPHS1 | c.713-36C>T (n.713-36C>T)
| dbSNP gnomAD v4 |
19 | g.35849399G= | CA2333850884 | NPHS1 | c.713-36C= (n.713-36C=)
| |
19 | g.35849399G>T | CA2584603927 | NPHS1 | c.713-36C>A (n.713-36C>A)
| gnomAD v4 |
19 | g.35849402dup | CA2333850886 | NPHS1 | c.713-37dup (n.713-37dup)
| dbSNP |
19 | g.35849401C= | CA2333850887 | NPHS1 | c.713-38G= (n.713-38G=)
| |
19 | g.35849401C>T | CA633060981 | NPHS1 | c.713-38G>A (n.713-38G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849402C>A | CA2584603928 | NPHS1 | c.713-39G>T (n.713-39G>T)
| gnomAD v4 |
19 | g.35849402C= | CA2333850888 | NPHS1 | c.713-39G= (n.713-39G=)
| |
19 | g.35849402C>T | CA9390682 | NPHS1 | c.713-39G>A (n.713-39G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35849403A= | CA2333850889 | NPHS1 | c.713-40T= (n.713-40T=)
| |
19 | g.35849403A>G | CA633060982 | NPHS1 | c.713-40T>C (n.713-40T>C)
| dbSNP gnomAD v2 gnomAD v4 |