| 19 | g.35842036_35842120del | CA2584602203 | NPHS1 | c.2663+6_2663+90del (n.2663+6_2663+90del)
| gnomAD v4 |
| 19 | g.35842078_35842097del | CA2584602232 | NPHS1 | c.2663+38_2663+57del (n.2663+38_2663+57del)
| gnomAD v4 |
| 19 | g.35842091del | CA2584602250 | NPHS1 | c.2663+36del (n.2663+36del)
| gnomAD v4 |
| 19 | g.35842089G>A | CA2584602254 | NPHS1 | c.2663+35C>T (n.2663+35C>T)
| gnomAD v4 |
| 19 | g.35842089G= | CA2333847339 | NPHS1 | c.2663+35C= (n.2663+35C=)
| |
| 19 | g.35842089G>T | CA2333847340 | NPHS1 | c.2663+35C>A (n.2663+35C>A)
| dbSNP gnomAD v4 |
| 19 | g.35842090G>A | CA633061255 | NPHS1 | c.2663+34C>T (n.2663+34C>T)
| dbSNP gnomAD v2 |
| 19 | g.35842090G= | CA2333847341 | NPHS1 | c.2663+34C= (n.2663+34C=)
| |
| 19 | g.35842090G>T | CA2584602255 | NPHS1 | c.2663+34C>A (n.2663+34C>A)
| gnomAD v4 |
| 19 | g.35842091G>A | CA9390062 | NPHS1 | c.2663+33C>T (n.2663+33C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842091G>C | CA2814252435 | NPHS1 | c.2663+33C>G (n.2663+33C>G)
| |
| 19 | g.35842091G= | CA2333847342 | NPHS1 | c.2663+33C= (n.2663+33C=)
| |
| 19 | g.35842091G>T | CA2584602256 | NPHS1 | c.2663+33C>A (n.2663+33C>A)
| gnomAD v4 |
| 19 | g.35842093T>C | CA2584602257 | NPHS1 | c.2663+31A>G (n.2663+31A>G)
| gnomAD v4 |
| 19 | g.35842094G>T | CA2584602258 | NPHS1 | c.2663+30C>A (n.2663+30C>A)
| gnomAD v4 |
| 19 | g.35842095G>T | CA2584602259 | NPHS1 | c.2663+29C>A (n.2663+29C>A)
| gnomAD v4 |
| 19 | g.35842096A= | CA2333847343 | NPHS1 | c.2663+28T= (n.2663+28T=)
| |
| 19 | g.35842096A>G | CA2333847344 | NPHS1 | c.2663+28T>C (n.2663+28T>C)
| dbSNP gnomAD v4 |
| 19 | g.35842097G= | CA2333847345 | NPHS1 | c.2663+27C= (n.2663+27C=)
| |
| 19 | g.35842097G>T | CA2584602260 | NPHS1 | c.2663+27C>A (n.2663+27C>A)
| gnomAD v4 |
| 19 | g.35842098T>C | CA307782082 | NPHS1 | c.2663+26A>G (n.2663+26A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842098T>G | CA633061241 | NPHS1 | c.2663+26A>C (n.2663+26A>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842098T= | CA2333847346 | NPHS1 | c.2663+26A= (n.2663+26A=)
| |
| 19 | g.35842101_35842103dup | CA9390063 | NPHS1 | c.2663+24_2663+26dup (n.2663+24_2663+26dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842099G>A | CA2584602261 | NPHS1 | c.2663+25C>T (n.2663+25C>T)
| gnomAD v4 |
| 19 | g.35842099G>T | CA657134834 | NPHS1 | c.2663+25C>A (n.2663+25C>A)
| gnomAD v4 COSMIC |
| 19 | g.35842100C= | CA2333847347 | NPHS1 | c.2663+24G= (n.2663+24G=)
| |
| 19 | g.35842100C>T | CA633061242 | NPHS1 | c.2663+24G>A (n.2663+24G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842101T>C | CA9390064 | NPHS1 | c.2663+23A>G (n.2663+23A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842101T= | CA2333847348 | NPHS1 | c.2663+23A= (n.2663+23A=)
| |
| 19 | g.35842102G>A | CA2584602262 | NPHS1 | c.2663+22C>T (n.2663+22C>T)
| gnomAD v4 |
| 19 | g.35842103C>A | CA2584602263 | NPHS1 | c.2663+21G>T (n.2663+21G>T)
| gnomAD v4 |
| 19 | g.35842104C>A | CA2584602264 | NPHS1 | c.2663+20G>T (n.2663+20G>T)
| gnomAD v4 |
| 19 | g.35842104C>T | CA2584602265 | NPHS1 | c.2663+20G>A (n.2663+20G>A)
| gnomAD v4 |
| 19 | g.35842105T>A | CA2584602266 | NPHS1 | c.2663+19A>T (n.2663+19A>T)
| gnomAD v4 |
| 19 | g.35842106G= | CA2333847349 | NPHS1 | c.2663+18C= (n.2663+18C=)
| |
| 19 | g.35842106G>T | CA633061243 | NPHS1 | c.2663+18C>A (n.2663+18C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842107G>A | CA2584602267 | NPHS1 | c.2663+17C>T (n.2663+17C>T)
| gnomAD v4 |
| 19 | g.35842107G>T | CA2584602268 | NPHS1 | c.2663+17C>A (n.2663+17C>A)
| gnomAD v4 |
| 19 | g.35842108C>A | CA2584602269 | NPHS1 | c.2663+16G>T (n.2663+16G>T)
| gnomAD v4 |
| 19 | g.35842108C>G | CA2576758768 | NPHS1 | c.2663+16G>C (n.2663+16G>C)
| |
| 19 | g.35842108C>T | CA2584602270 | NPHS1 | c.2663+16G>A (n.2663+16G>A)
| ClinVar gnomAD v4 |
| 19 | g.35842109T>C | CA2584602271 | NPHS1 | c.2663+15A>G (n.2663+15A>G)
| gnomAD v4 |
| 19 | g.35842111G>T | CA2584602272 | NPHS1 | c.2663+13C>A (n.2663+13C>A)
| gnomAD v4 |
| 19 | g.35842112G>A | CA2333847351 | NPHS1 | c.2663+12C>T (n.2663+12C>T)
| dbSNP gnomAD v4 |
| 19 | g.35842112G= | CA2333847350 | NPHS1 | c.2663+12C= (n.2663+12C=)
| |
| 19 | g.35842112G>T | CA2584602273 | NPHS1 | c.2663+12C>A (n.2663+12C>A)
| gnomAD v4 |
| 19 | g.35842113C>A | CA2333847353 | NPHS1 | c.2663+11G>T (n.2663+11G>T)
| dbSNP gnomAD v4 |
| 19 | g.35842113C= | CA2333847352 | NPHS1 | c.2663+11G= (n.2663+11G=)
| |
| 19 | g.35842113C>T | CA2333847354 | NPHS1 | c.2663+11G>A (n.2663+11G>A)
| dbSNP |
| 19 | g.35842115_35842125del | CA913015902 | NPHS1 | c.2663+1_2663+11del
| |
| 19 | g.35842114T>C | CA2814252437 | NPHS1 | c.2663+10A>G (n.2663+10A>G)
| |
| 19 | g.35842114_35842117dup | CA2584602274 | NPHS1 | c.2663+7_2663+10dup (n.2663+7_2663+10dup)
| gnomAD v4 |
| 19 | g.35842114_35842124delinsTTGGGCTCACC | CA2333847355 | NPHS1 | c.2663_2663+10delinsGGTGAGCCCAA
| |
| 19 | g.35842115T>C | CA2580096853 | NPHS1 | c.2663+9A>G (n.2663+9A>G)
| ClinVar gnomAD v4 |
| 19 | g.35842115T>G | CA2584602275 | NPHS1 | c.2663+9A>C (n.2663+9A>C)
| gnomAD v4 |
| 19 | g.35842119_35842128del | CA9390065 | NPHS1 | c.2663_2663+9del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842116G>C | CA2584602276 | NPHS1 | c.2663+8C>G (n.2663+8C>G)
| gnomAD v4 |
| 19 | g.35842117G>A | CA2814252438 | NPHS1 | c.2663+7C>T (n.2663+7C>T)
| |
| 19 | g.35842117G>C | CA9390066 | NPHS1 | c.2663+7C>G (n.2663+7C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842117G= | CA2333847356 | NPHS1 | c.2663+7C= (n.2663+7C=)
| |
| 19 | g.35842117G>T | CA2584602277 | NPHS1 | c.2663+7C>A (n.2663+7C>A)
| gnomAD v4 |
| 19 | g.35842118G>A | CA2584602278 | NPHS1 | c.2663+6C>T (n.2663+6C>T)
| gnomAD v4 |
| 19 | g.35842118G= | CA2333847357 | NPHS1 | c.2663+6C= (n.2663+6C=)
| |
| 19 | g.35842118G>T | CA881821991 | NPHS1 | c.2663+6C>A (n.2663+6C>A)
| dbSNP gnomAD v4 |
| 19 | g.35842119C>A | CA2584602279 | NPHS1 | c.2663+5G>T (n.2663+5G>T)
| gnomAD v4 |
| 19 | g.35842119C>T | CA2584602280 | NPHS1 | c.2663+5G>A (n.2663+5G>A)
| gnomAD v4 |
| 19 | g.35842121C>A | CA2584602281 | NPHS1 | c.2663+3G>T (n.2663+3G>T)
| gnomAD v4 |
| 19 | g.35842121C= | CA2333847358 | NPHS1 | c.2663+3G= (n.2663+3G=)
| |
| 19 | g.35842121C>T | CA9390067 | NPHS1 | c.2663+3G>A (n.2663+3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842122A= | CA2333847359 | NPHS1 | c.2663+2T= (n.2663+2T=)
| |
| 19 | g.35842122A>C | CA405390993 | NPHS1 | c.2663+2T>G (n.2663+2T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842122A>G | CA405391008 | NPHS1 | c.2663+2T>C (n.2663+2T>C)
| |
| 19 | g.35842122A>T | CA307782102 | NPHS1 | c.2663+2T>A (n.2663+2T>A)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35842123C>A | CA405391016 | NPHS1 | c.2663+1G>T (n.2663+1G>T)
| |
| 19 | g.35842123C= | CA2333847360 | NPHS1 | c.2663+1G= (n.2663+1G=)
| |
| 19 | g.35842123C>G | CA405391018 | NPHS1 | c.2663+1G>C (n.2663+1G>C)
| dbSNP gnomAD v2 |
| 19 | g.35842123C>T | CA405391020 | NPHS1 | c.2663+1G>A (n.2663+1G>A)
| dbSNP gnomAD v2 |
| 19 | g.35842124C>A | CA405391028 | NPHS1 | c.2663G>T (p.Arg888Met)
| |
| 19 | g.35842124C= | CA2333847361 | NPHS1 | c.2663G= (p.Arg888=)
| |
| 19 | g.35842124C>G | CA9390068 | NPHS1 | c.2663G>C (p.Arg888Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842124C>T | CA405391027 | NPHS1 | c.2663G>A (p.Arg888Lys)
| ClinVar dbSNP |
| 19 | g.35842125T>A | CA405391032 | NPHS1 | c.2662A>T (p.Arg888Trp)
| |
| 19 | g.35842125T>C | CA405391041 | NPHS1 | c.2662A>G (p.Arg888Gly)
| dbSNP |
| 19 | g.35842125T>G | CA507075760 | NPHS1 | c.2662A>C (p.Arg888=)
| |
| 19 | g.35842125T= | CA2333847362 | NPHS1 | c.2662A= (p.Arg888=)
| |
| 19 | g.35842126G>A | CA507075763 | NPHS1 | c.2661C>T (p.Pro887=)
| |
| 19 | g.35842126G>C | CA507075764 | NPHS1 | c.2661C>G (p.Pro887=)
| ClinVar dbSNP |
| 19 | g.35842126G= | CA2333847363 | NPHS1 | c.2661C= (p.Pro887=)
| |
| 19 | g.35842126G>T | CA507075765 | NPHS1 | c.2661C>A (p.Pro887=)
| gnomAD v4 |
| 19 | g.35842127G>A | CA405391042 | NPHS1 | c.2660C>T (p.Pro887Leu)
| |
| 19 | g.35842127G>C | CA405391044 | NPHS1 | c.2660C>G (p.Pro887Arg)
| |
| 19 | g.35842127G>T | CA405391053 | NPHS1 | c.2660C>A (p.Pro887His)
| COSMIC |
| 19 | g.35842128G>A | CA405391060 | NPHS1 | c.2659C>T (p.Pro887Ser)
| gnomAD v4 COSMIC |
| 19 | g.35842128G>C | CA405391064 | NPHS1 | c.2659C>G (p.Pro887Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35842128G= | CA2333847364 | NPHS1 | c.2659C= (p.Pro887=)
| |
| 19 | g.35842128G>T | CA405391062 | NPHS1 | c.2659C>A (p.Pro887Thr)
| |
| 19 | g.35842129A>C | CA405391086 | NPHS1 | c.2658T>G (p.Asp886Glu)
| |
| 19 | g.35842129A>G | CA507075769 | NPHS1 | c.2658T>C (p.Asp886=)
| ClinVar |
| 19 | g.35842129A>T | CA405391089 | NPHS1 | c.2658T>A (p.Asp886Glu)
| gnomAD v4 |
| 19 | g.35842130T>A | CA405391098 | NPHS1 | c.2657A>T (p.Asp886Val)
| |
| 19 | g.35842130T>C | CA405391101 | NPHS1 | c.2657A>G (p.Asp886Gly)
| |
| 19 | g.35842130T>G | CA405391103 | NPHS1 | c.2657A>C (p.Asp886Ala)
| |
| 19 | g.35842131C>A | CA405391110 | NPHS1 | c.2656G>T (p.Asp886Tyr)
| gnomAD v4 |
| 19 | g.35842131C= | CA2333847365 | NPHS1 | c.2656G= (p.Asp886=)
| |
| 19 | g.35842131C>G | CA405391115 | NPHS1 | c.2656G>C (p.Asp886His)
| |
| 19 | g.35842131C>T | CA405391116 | NPHS1 | c.2656G>A (p.Asp886Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842132T>A | CA405391117 | NPHS1 | c.2655A>T (p.Gln885His)
| |
| 19 | g.35842132T>C | CA507075778 | NPHS1 | c.2655A>G (p.Gln885=)
| dbSNP |
| 19 | g.35842132T>G | CA405391119 | NPHS1 | c.2655A>C (p.Gln885His)
| |
| 19 | g.35842132T= | CA2333847366 | NPHS1 | c.2655A= (p.Gln885=)
| |
| 19 | g.35842133T>A | CA10648552 | NPHS1 | c.2654A>T (p.Gln885Leu)
| ClinVar dbSNP |
| 19 | g.35842133T>C | CA405391127 | NPHS1 | c.2654A>G (p.Gln885Arg)
| gnomAD v4 |
| 19 | g.35842133T>G | CA405391123 | NPHS1 | c.2654A>C (p.Gln885Pro)
| |
| 19 | g.35842133T= | CA2333847367 | NPHS1 | c.2654A= (p.Gln885=)
| |
| 19 | g.35842134G>A | CA405391134 | NPHS1 | c.2653C>T (p.Gln885Ter)
| |
| 19 | g.35842134G>C | CA405391137 | NPHS1 | c.2653C>G (p.Gln885Glu)
| |
| 19 | g.35842134G>T | CA405391139 | NPHS1 | c.2653C>A (p.Gln885Lys)
| gnomAD v4 |
| 19 | g.35842135G>A | CA507075787 | NPHS1 | c.2652C>T (p.Leu884=)
| |
| 19 | g.35842135G>C | CA507075788 | NPHS1 | c.2652C>G (p.Leu884=)
| |
| 19 | g.35842135G>T | CA507075789 | NPHS1 | c.2652C>A (p.Leu884=)
| |
| 19 | g.35842136A= | CA2333847368 | NPHS1 | c.2651T= (p.Leu884=)
| |
| 19 | g.35842136A>C | CA405391143 | NPHS1 | c.2651T>G (p.Leu884Arg)
| gnomAD v4 |
| 19 | g.35842136A>G | CA405391147 | NPHS1 | c.2651T>C (p.Leu884Pro)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35842136A>T | CA405391150 | NPHS1 | c.2651T>A (p.Leu884His)
| |
| 19 | g.35842137G>A | CA405391162 | NPHS1 | c.2650C>T (p.Leu884Phe)
| |
| 19 | g.35842137G>C | CA405391155 | NPHS1 | c.2650C>G (p.Leu884Val)
| |
| 19 | g.35842137G>T | CA405391158 | NPHS1 | c.2650C>A (p.Leu884Ile)
| |
| 19 | g.35842138A>C | CA405391167 | NPHS1 | c.2649T>G (p.Asp883Glu)
| |
| 19 | g.35842138A>G | CA507075794 | NPHS1 | c.2649T>C (p.Asp883=)
| gnomAD v4 |
| 19 | g.35842138A>T | CA405391168 | NPHS1 | c.2649T>A (p.Asp883Glu)
| |
| 19 | g.35842139T>A | CA405391173 | NPHS1 | c.2648A>T (p.Asp883Val)
| |
| 19 | g.35842139T>C | CA405391177 | NPHS1 | c.2648A>G (p.Asp883Gly)
| gnomAD v4 |
| 19 | g.35842139T>G | CA405391179 | NPHS1 | c.2648A>C (p.Asp883Ala)
| |
| 19 | g.35842140C>A | CA405391184 | NPHS1 | c.2647G>T (p.Asp883Tyr)
| gnomAD v4 |
| 19 | g.35842140C= | CA2333847369 | NPHS1 | c.2647G= (p.Asp883=)
| |
| 19 | g.35842140C>G | CA405391189 | NPHS1 | c.2647G>C (p.Asp883His)
| |
| 19 | g.35842140C>T | CA9390069 | NPHS1 | c.2647G>A (p.Asp883Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842142_35842150del | CA2814252440 | NPHS1 | c.2639_2647del (p.Val880_Leu882del)
| |
| 19 | g.35842141C>A | CA507075806 | NPHS1 | c.2646G>T (p.Leu882=)
| |
| 19 | g.35842141C>G | CA507075805 | NPHS1 | c.2646G>C (p.Leu882=)
| |
| 19 | g.35842141C>T | CA507075804 | NPHS1 | c.2646G>A (p.Leu882=)
| |
| 19 | g.35842142A>C | CA405391194 | NPHS1 | c.2645T>G (p.Leu882Arg)
| |
| 19 | g.35842142A>G | CA405391197 | NPHS1 | c.2645T>C (p.Leu882Pro)
| |
| 19 | g.35842142A>T | CA405391199 | NPHS1 | c.2645T>A (p.Leu882Gln)
| |
| 19 | g.35842143G>A | CA507075809 | NPHS1 | c.2644C>T (p.Leu882=)
| |
| 19 | g.35842143G>C | CA405391203 | NPHS1 | c.2644C>G (p.Leu882Val)
| gnomAD v4 |
| 19 | g.35842143G>T | CA405391206 | NPHS1 | c.2644C>A (p.Leu882Met)
| gnomAD v4 |
| 19 | g.35842144A= | CA2333847370 | NPHS1 | c.2643T= (p.Pro881=)
| |
| 19 | g.35842144A>C | CA507075814 | NPHS1 | c.2643T>G (p.Pro881=)
| |
| 19 | g.35842144A>G | CA9390070 | NPHS1 | c.2643T>C (p.Pro881=)
| dbSNP ExAC gnomAD v2 |
| 19 | g.35842144A>T | CA507075816 | NPHS1 | c.2643T>A (p.Pro881=)
| |
| 19 | g.35842145G>A | CA405391214 | NPHS1 | c.2642C>T (p.Pro881Leu)
| |
| 19 | g.35842145G>C | CA405391217 | NPHS1 | c.2642C>G (p.Pro881Arg)
| |
| 19 | g.35842145G>T | CA405391220 | NPHS1 | c.2642C>A (p.Pro881His)
| |
| 19 | g.35842146G>A | CA405391223 | NPHS1 | c.2641C>T (p.Pro881Ser)
| COSMIC |
| 19 | g.35842146G>C | CA405391225 | NPHS1 | c.2641C>G (p.Pro881Ala)
| |
| 19 | g.35842146G>T | CA405391227 | NPHS1 | c.2641C>A (p.Pro881Thr)
| |
| 19 | g.35842147G>A | CA507075826 | NPHS1 | c.2640C>T (p.Val880=)
| gnomAD v4 |
| 19 | g.35842147G>C | CA507075828 | NPHS1 | c.2640C>G (p.Val880=)
| |
| 19 | g.35842147G= | CA2333847371 | NPHS1 | c.2640C= (p.Val880=)
| |
| 19 | g.35842147G>T | CA507075827 | NPHS1 | c.2640C>A (p.Val880=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842148A>C | CA405391239 | NPHS1 | c.2639T>G (p.Val880Gly)
| |
| 19 | g.35842148A>G | CA405391235 | NPHS1 | c.2639T>C (p.Val880Ala)
| gnomAD v4 |
| 19 | g.35842148A>T | CA405391233 | NPHS1 | c.2639T>A (p.Val880Asp)
| |
| 19 | g.35842149C>A | CA405391243 | NPHS1 | c.2638G>T (p.Val880Phe)
| gnomAD v4 |
| 19 | g.35842149C= | CA2333847372 | NPHS1 | c.2638G= (p.Val880=)
| |
| 19 | g.35842149C>G | CA405391240 | NPHS1 | c.2638G>C (p.Val880Leu)
| |
| 19 | g.35842149C>T | CA405391248 | NPHS1 | c.2638G>A (p.Val880Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842150C>A | CA507075837 | NPHS1 | c.2637G>T (p.Gly879=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842150C= | CA2333847373 | NPHS1 | c.2637G= (p.Gly879=)
| |
| 19 | g.35842150C>G | CA507075836 | NPHS1 | c.2637G>C (p.Gly879=)
| |
| 19 | g.35842150C>T | CA507075835 | NPHS1 | c.2637G>A (p.Gly879=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842151C>A | CA405391251 | NPHS1 | c.2636G>T (p.Gly879Val)
| |
| 19 | g.35842151C= | CA2333847374 | NPHS1 | c.2636G= (p.Gly879=)
| |
| 19 | g.35842151C>G | CA405391257 | NPHS1 | c.2636G>C (p.Gly879Ala)
| |
| 19 | g.35842151C>T | CA405391254 | NPHS1 | c.2636G>A (p.Gly879Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842152C>A | CA405391261 | NPHS1 | c.2635G>T (p.Gly879Trp)
| gnomAD v4 |
| 19 | g.35842152C= | CA2333847375 | NPHS1 | c.2635G= (p.Gly879=)
| |
| 19 | g.35842152C>G | CA405391263 | NPHS1 | c.2635G>C (p.Gly879Arg)
| |
| 19 | g.35842152C>T | CA9390071 | NPHS1 | c.2635G>A (p.Gly879Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.35842153G>A | CA9390072 | NPHS1 | c.2634C>T (p.Asn878=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842153G>C | CA405391270 | NPHS1 | c.2634C>G (p.Asn878Lys)
| gnomAD v4 |
| 19 | g.35842153G= | CA2333847376 | NPHS1 | c.2634C= (p.Asn878=)
| |
| 19 | g.35842153G>T | CA405391273 | NPHS1 | c.2634C>A (p.Asn878Lys)
| |
| 19 | g.35842154T>A | CA405391278 | NPHS1 | c.2633A>T (p.Asn878Ile)
| gnomAD v4 |
| 19 | g.35842154T>C | CA405391280 | NPHS1 | c.2633A>G (p.Asn878Ser)
| |
| 19 | g.35842154T>G | CA405391284 | NPHS1 | c.2633A>C (p.Asn878Thr)
| |
| 19 | g.35842159dup | CA881822065 | NPHS1 | c.2633dup (p.Asn878LysfsTer?)
| ClinVar dbSNP |
| 19 | g.35842159del | CA645604856 | NPHS1 | c.2633del (p.Asn878ThrfsTer27)
| gnomAD v4 COSMIC |
| 19 | g.35842155T>A | CA405391289 | NPHS1 | c.2632A>T (p.Asn878Tyr)
| dbSNP gnomAD v4 |
| 19 | g.35842155T>C | CA405391292 | NPHS1 | c.2632A>G (p.Asn878Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842155T>G | CA405391295 | NPHS1 | c.2632A>C (p.Asn878His)
| |
| 19 | g.35842155T= | CA2333847377 | NPHS1 | c.2632A= (p.Asn878=)
| |
| 19 | g.35842156T>A | CA405391298 | NPHS1 | c.2631A>T (p.Lys877Asn)
| |
| 19 | g.35842156T>C | CA507075844 | NPHS1 | c.2631A>G (p.Lys877=)
| |
| 19 | g.35842156T>G | CA405391301 | NPHS1 | c.2631A>C (p.Lys877Asn)
| |
| 19 | g.35842157T>A | CA405391313 | NPHS1 | c.2630A>T (p.Lys877Ile)
| |
| 19 | g.35842157T>C | CA405391306 | NPHS1 | c.2630A>G (p.Lys877Arg)
| |
| 19 | g.35842157T>G | CA405391310 | NPHS1 | c.2630A>C (p.Lys877Thr)
| |
| 19 | g.35842157_35842158delinsA | CA2695198179 | NPHS1 | c.2629_2630delinsT (p.Lys877Ter)
| ClinVar |
| 19 | g.35842158T>A | CA405391317 | NPHS1 | c.2629A>T (p.Lys877Ter)
| |
| 19 | g.35842158T>C | CA307782125 | NPHS1 | c.2629A>G (p.Lys877Glu)
| dbSNP gnomAD v4 |
| 19 | g.35842158T>G | CA405391323 | NPHS1 | c.2629A>C (p.Lys877Gln)
| |
| 19 | g.35842158T= | CA2333847378 | NPHS1 | c.2629A= (p.Lys877=)
| |
| 19 | g.35842159T>A | CA507075852 | NPHS1 | c.2628A>T (p.Thr876=)
| |
| 19 | g.35842159T>C | CA507075854 | NPHS1 | c.2628A>G (p.Thr876=)
| gnomAD v4 |
| 19 | g.35842159T>G | CA9390073 | NPHS1 | c.2628A>C (p.Thr876=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842159T= | CA2333847379 | NPHS1 | c.2628A= (p.Thr876=)
| |
| 19 | g.35842160G>A | CA405391330 | NPHS1 | c.2627C>T (p.Thr876Ile)
| |
| 19 | g.35842160G>C | CA9390074 | NPHS1 | c.2627C>G (p.Thr876Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842160G= | CA2333847380 | NPHS1 | c.2627C= (p.Thr876=)
| |
| 19 | g.35842160G>T | CA405391336 | NPHS1 | c.2627C>A (p.Thr876Lys)
| |
| 19 | g.35842161T>A | CA405391342 | NPHS1 | c.2626A>T (p.Thr876Ser)
| |
| 19 | g.35842161T>C | CA405391345 | NPHS1 | c.2626A>G (p.Thr876Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842161T>G | CA405391348 | NPHS1 | c.2626A>C (p.Thr876Pro)
| |
| 19 | g.35842161T= | CA2333847381 | NPHS1 | c.2626A= (p.Thr876=)
| |
| 19 | g.35842162C>A | CA405391355 | NPHS1 | c.2625G>T (p.Trp875Cys)
| |
| 19 | g.35842162C= | CA2333847382 | NPHS1 | c.2625G= (p.Trp875=)
| |
| 19 | g.35842162C>G | CA405391357 | NPHS1 | c.2625G>C (p.Trp875Cys)
| |
| 19 | g.35842162C>T | CA250204 | NPHS1 | c.2625G>A (p.Trp875Ter)
| ClinVar dbSNP |
| 19 | g.35842162_35842163del | CA2580096855 | NPHS1 | c.2624_2625del (p.Trp875TyrfsTer?)
| ClinVar |
| 19 | g.35842163C>A | CA405391361 | NPHS1 | c.2624G>T (p.Trp875Leu)
| COSMIC |
| 19 | g.35842163C>G | CA405391365 | NPHS1 | c.2624G>C (p.Trp875Ser)
| |
| 19 | g.35842163C>T | CA405391368 | NPHS1 | c.2624G>A (p.Trp875Ter)
| |
| 19 | g.35842164A>C | CA405391372 | NPHS1 | c.2623T>G (p.Trp875Gly)
| |
| 19 | g.35842164A>G | CA405391376 | NPHS1 | c.2623T>C (p.Trp875Arg)
| |
| 19 | g.35842164A>T | CA405391378 | NPHS1 | c.2623T>A (p.Trp875Arg)
| |
| 19 | g.35842165A= | CA2333847383 | NPHS1 | c.2622T= (p.Thr874=)
| |
| 19 | g.35842165A>C | CA507075866 | NPHS1 | c.2622T>G (p.Thr874=)
| |
| 19 | g.35842165A>G | CA10587299 | NPHS1 | c.2622T>C (p.Thr874=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842165A>T | CA507075867 | NPHS1 | c.2622T>A (p.Thr874=)
| |
| 19 | g.35842166G>A | CA405391386 | NPHS1 | c.2621C>T (p.Thr874Ile)
| gnomAD v4 |
| 19 | g.35842166G>C | CA405391387 | NPHS1 | c.2621C>G (p.Thr874Ser)
| |
| 19 | g.35842166G>T | CA405391391 | NPHS1 | c.2621C>A (p.Thr874Asn)
| |
| 19 | g.35842166_35842169delinsGTGA | CA2333847384 | NPHS1 | c.2618_2621delinsTCAC (p.Phe873=)
| |
| 19 | g.35842167del | CA2584602282 | NPHS1 | c.2620del (p.Thr874LeufsTer?)
| gnomAD v4 |
| 19 | g.35842167T>A | CA405391403 | NPHS1 | c.2620A>T (p.Thr874Ser)
| |
| 19 | g.35842167T>C | CA405391405 | NPHS1 | c.2620A>G (p.Thr874Ala)
| gnomAD v4 |
| 19 | g.35842167T>G | CA405391399 | NPHS1 | c.2620A>C (p.Thr874Pro)
| |
| 19 | g.35842167_35842169delinsGG | CA250203 | NPHS1 | c.2618_2620delinsCC (p.Phe873SerfsTer?)
| ClinVar dbSNP |
| 19 | g.[35842167_35842169delinsGG;35842235G>A] | CA2742038397 | NPHS1 | c.[2552C>T;2618_2620delinsCC] (p.[Ala851Val;Phe873SerfsTer?])
| |
| 19 | g.35842168G>A | CA507075872 | NPHS1 | c.2619C>T (p.Phe873=)
| |
| 19 | g.35842168G>C | CA405391409 | NPHS1 | c.2619C>G (p.Phe873Leu)
| |
| 19 | g.35842168G>T | CA405391413 | NPHS1 | c.2619C>A (p.Phe873Leu)
| |
| 19 | g.35842169A>C | CA405391417 | NPHS1 | c.2618T>G (p.Phe873Cys)
| |
| 19 | g.35842169A>G | CA405391421 | NPHS1 | c.2618T>C (p.Phe873Ser)
| |
| 19 | g.35842169A>T | CA405391424 | NPHS1 | c.2618T>A (p.Phe873Tyr)
| |
| 19 | g.35842172del | CA2580096856 | NPHS1 | c.2618del (p.Phe873SerfsTer?)
| ClinVar |
| 19 | g.35842170A= | CA2333847385 | NPHS1 | c.2617T= (p.Phe873=)
| |
| 19 | g.35842170A>C | CA307782137 | NPHS1 | c.2617T>G (p.Phe873Val)
| dbSNP gnomAD v4 |
| 19 | g.35842170A>G | CA405391428 | NPHS1 | c.2617T>C (p.Phe873Leu)
| |
| 19 | g.35842170A>T | CA405391431 | NPHS1 | c.2617T>A (p.Phe873Ile)
| |
| 19 | g.35842171A>C | CA507075879 | NPHS1 | c.2616T>G (p.Val872=)
| |
| 19 | g.35842171A>G | CA507075878 | NPHS1 | c.2616T>C (p.Val872=)
| |
| 19 | g.35842171A>T | CA507075877 | NPHS1 | c.2616T>A (p.Val872=)
| |
| 19 | g.35842172A= | CA2333847386 | NPHS1 | c.2615T= (p.Val872=)
| |
| 19 | g.35842172A>C | CA405391438 | NPHS1 | c.2615T>G (p.Val872Gly)
| |
| 19 | g.35842172A>G | CA9390075 | NPHS1 | c.2615T>C (p.Val872Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842172A>T | CA405391444 | NPHS1 | c.2615T>A (p.Val872Asp)
| |
| 19 | g.35842173del | CA2695228613 | NPHS1 | c.2614del (p.Val872PhefsTer?)
| |
| 19 | g.35842173C>A | CA405391451 | NPHS1 | c.2614G>T (p.Val872Phe)
| |
| 19 | g.35842173C= | CA2333847387 | NPHS1 | c.2614G= (p.Val872=)
| |
| 19 | g.35842173C>G | CA405391453 | NPHS1 | c.2614G>C (p.Val872Leu)
| |
| 19 | g.35842173C>T | CA9390076 | NPHS1 | c.2614G>A (p.Val872Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842174G>A | CA9390077 | NPHS1 | c.2613C>T (p.Ile871=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842174G>C | CA405391459 | NPHS1 | c.2613C>G (p.Ile871Met)
| |
| 19 | g.35842174G= | CA2333847388 | NPHS1 | c.2613C= (p.Ile871=)
| |
| 19 | g.35842174G>T | CA507075883 | NPHS1 | c.2613C>A (p.Ile871=)
| |
| 19 | g.35842175A= | CA2333847389 | NPHS1 | c.2612T= (p.Ile871=)
| |
| 19 | g.35842175A>C | CA405391465 | NPHS1 | c.2612T>G (p.Ile871Ser)
| |
| 19 | g.35842175A>G | CA9390078 | NPHS1 | c.2612T>C (p.Ile871Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842175A>T | CA405391469 | NPHS1 | c.2612T>A (p.Ile871Asn)
| |
| 19 | g.35842176T>A | CA405391473 | NPHS1 | c.2611A>T (p.Ile871Phe)
| |
| 19 | g.35842176T>C | CA9390079 | NPHS1 | c.2611A>G (p.Ile871Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842176T>G | CA405391477 | NPHS1 | c.2611A>C (p.Ile871Leu)
| |
| 19 | g.35842176T= | CA2333847390 | NPHS1 | c.2611A= (p.Ile871=)
| |
| 19 | g.35842177G>A | CA507075888 | NPHS1 | c.2610C>T (p.Asn870=)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35842177G>C | CA405391482 | NPHS1 | c.2610C>G (p.Asn870Lys)
| |
| 19 | g.35842177G>T | CA405391481 | NPHS1 | c.2610C>A (p.Asn870Lys)
| gnomAD v4 |
| 19 | g.35842178T>A | CA405391528 | NPHS1 | c.2609A>T (p.Asn870Ile)
| |
| 19 | g.35842178T>C | CA9390080 | NPHS1 | c.2609A>G (p.Asn870Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842178T>G | CA405391535 | NPHS1 | c.2609A>C (p.Asn870Thr)
| |
| 19 | g.35842178T= | CA2333847391 | NPHS1 | c.2609A= (p.Asn870=)
| |
| 19 | g.35842178_35842179dup | CA2695198180 | NPHS1 | c.2608_2609dup (p.Asn870LysfsTer?)
| ClinVar |
| 19 | g.35842179T>A | CA405391540 | NPHS1 | c.2608A>T (p.Asn870Tyr)
| |
| 19 | g.35842179T>C | CA405391543 | NPHS1 | c.2608A>G (p.Asn870Asp)
| |
| 19 | g.35842179T>G | CA405391546 | NPHS1 | c.2608A>C (p.Asn870His)
| |
| 19 | g.35842179T= | CA2333847392 | NPHS1 | c.2608A= (p.Asn870=)
| |
| 19 | g.35842180G>A | CA9390081 | NPHS1 | c.2607C>T (p.Pro869=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842180G>C | CA507075894 | NPHS1 | c.2607C>G (p.Pro869=)
| gnomAD v4 |
| 19 | g.35842180G= | CA2333847393 | NPHS1 | c.2607C= (p.Pro869=)
| |
| 19 | g.35842180G>T | CA507075895 | NPHS1 | c.2607C>A (p.Pro869=)
| gnomAD v4 |
| 19 | g.35842182_35842183dup | CA250202 | NPHS1 | c.2606_2607dup (p.Asn870ProfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842181G>A | CA405391559 | NPHS1 | c.2606C>T (p.Pro869Leu)
| |
| 19 | g.35842181G>C | CA405391562 | NPHS1 | c.2606C>G (p.Pro869Arg)
| gnomAD v4 |
| 19 | g.35842181G>T | CA405391564 | NPHS1 | c.2606C>A (p.Pro869His)
| |
| 19 | g.35842182G>A | CA405391570 | NPHS1 | c.2605C>T (p.Pro869Ser)
| |
| 19 | g.35842182G>C | CA405391573 | NPHS1 | c.2605C>G (p.Pro869Ala)
| |
| 19 | g.35842182G>T | CA405391576 | NPHS1 | c.2605C>A (p.Pro869Thr)
| gnomAD v4 COSMIC |
| 19 | g.35842183G>A | CA9390082 | NPHS1 | c.2604C>T (p.Val868=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842183G>C | CA507075904 | NPHS1 | c.2604C>G (p.Val868=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842183G= | CA2333847394 | NPHS1 | c.2604C= (p.Val868=)
| |
| 19 | g.35842183G>T | CA507075903 | NPHS1 | c.2604C>A (p.Val868=)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842184A>C | CA405391586 | NPHS1 | c.2603T>G (p.Val868Gly)
| |
| 19 | g.35842184A>G | CA405391588 | NPHS1 | c.2603T>C (p.Val868Ala)
| gnomAD v4 |
| 19 | g.35842184A>T | CA405391591 | NPHS1 | c.2603T>A (p.Val868Asp)
| gnomAD v4 |
| 19 | g.35842185C>A | CA405391597 | NPHS1 | c.2602G>T (p.Val868Phe)
| |
| 19 | g.35842185C>G | CA405391599 | NPHS1 | c.2602G>C (p.Val868Leu)
| |
| 19 | g.35842185C>T | CA405391602 | NPHS1 | c.2602G>A (p.Val868Ile)
| gnomAD v4 |
| 19 | g.35842186A>C | CA507075912 | NPHS1 | c.2601T>G (p.Gly867=)
| ClinVar dbSNP |
| 19 | g.35842186A>G | CA507075913 | NPHS1 | c.2601T>C (p.Gly867=)
| |
| 19 | g.35842186A>T | CA507075914 | NPHS1 | c.2601T>A (p.Gly867=)
| |
| 19 | g.35842187C>A | CA405391605 | NPHS1 | c.2600G>T (p.Gly867Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35842187C= | CA2333847395 | NPHS1 | c.2600G= (p.Gly867=)
| |
| 19 | g.35842187C>G | CA405391606 | NPHS1 | c.2600G>C (p.Gly867Ala)
| |
| 19 | g.35842187C>T | CA9390083 | NPHS1 | c.2600G>A (p.Gly867Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35842188C>A | CA405391609 | NPHS1 | c.2599G>T (p.Gly867Cys)
| |
| 19 | g.35842188C>G | CA405391613 | NPHS1 | c.2599G>C (p.Gly867Arg)
| |
| 19 | g.35842188C>T | CA405391615 | NPHS1 | c.2599G>A (p.Gly867Ser)
| |
| 19 | g.35842189T>A | CA507075918 | NPHS1 | c.2598A>T (p.Arg866=)
| |
| 19 | g.35842189T>C | CA507075919 | NPHS1 | c.2598A>G (p.Arg866=)
| |
| 19 | g.35842189T>G | CA507075920 | NPHS1 | c.2598A>C (p.Arg866=)
| gnomAD v4 |
