Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.5863915A= | CA1151209110 | NPHP4 | c.4115T= (p.Leu1372=) n.3266T= c.*3016T= (n.*3016T=) n.2863T= n.3847T= c.*1926T= (n.*1926T=) c.2576T= (p.Leu859=) c.2579T= (p.Leu860=) n.4930T= c.4112T= (p.Leu1371=) c.4073T= (p.Leu1358=) c.4004T= (p.Leu1335=) c.4061T= (p.Leu1354=) c.4070T= (p.Leu1357=) c.3587T= (p.Leu1196=) c.3317T= (p.Leu1106=) n.3981T= n.3966T= n.4882T= | |
1 | g.5863915A>C | CA338048844 | NPHP4 | c.4115T>G (p.Leu1372Arg) n.3266T>G c.*3016T>G (n.*3016T>G) n.2863T>G n.3847T>G c.*1926T>G (n.*1926T>G) c.2576T>G (p.Leu859Arg) c.2579T>G (p.Leu860Arg) n.4930T>G c.4112T>G (p.Leu1371Arg) c.4073T>G (p.Leu1358Arg) c.4004T>G (p.Leu1335Arg) c.4061T>G (p.Leu1354Arg) c.4070T>G (p.Leu1357Arg) c.3587T>G (p.Leu1196Arg) c.3317T>G (p.Leu1106Arg) n.3981T>G n.3966T>G n.4882T>G | |
1 | g.5863915A>G | CA17124832 | NPHP4 | c.4115T>C (p.Leu1372Pro) n.3266T>C c.*3016T>C (n.*3016T>C) n.2863T>C n.3847T>C c.*1926T>C (n.*1926T>C) c.2576T>C (p.Leu859Pro) c.2579T>C (p.Leu860Pro) n.4930T>C c.4112T>C (p.Leu1371Pro) c.4073T>C (p.Leu1358Pro) c.4004T>C (p.Leu1335Pro) c.4061T>C (p.Leu1354Pro) c.4070T>C (p.Leu1357Pro) c.3587T>C (p.Leu1196Pro) c.3317T>C (p.Leu1106Pro) n.3981T>C n.3966T>C n.4882T>C | ClinVar dbSNP gnomAD v4 |
1 | g.5863915A>T | CA338048842 | NPHP4 | c.4115T>A (p.Leu1372Gln) n.3266T>A c.*3016T>A (n.*3016T>A) n.2863T>A n.3847T>A c.*1926T>A (n.*1926T>A) c.2576T>A (p.Leu859Gln) c.2579T>A (p.Leu860Gln) n.4930T>A c.4112T>A (p.Leu1371Gln) c.4073T>A (p.Leu1358Gln) c.4004T>A (p.Leu1335Gln) c.4061T>A (p.Leu1354Gln) c.4070T>A (p.Leu1357Gln) c.3587T>A (p.Leu1196Gln) c.3317T>A (p.Leu1106Gln) n.3981T>A n.3966T>A n.4882T>A | COSMIC |
1 | g.5863916G>A | CA337751 | NPHP4 | c.4114C>T (p.Leu1372=) n.3265C>T c.*3015C>T (n.*3015C>T) n.2862C>T n.3846C>T c.*1925C>T (n.*1925C>T) c.2575C>T (p.Leu859=) c.2578C>T (p.Leu860=) n.4929C>T c.4111C>T (p.Leu1371=) c.4072C>T (p.Leu1358=) c.4003C>T (p.Leu1335=) c.4060C>T (p.Leu1354=) c.4069C>T (p.Leu1357=) c.3586C>T (p.Leu1196=) c.3316C>T (p.Leu1106=) n.3980C>T n.3965C>T n.4881C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863916G>C | CA338048846 | NPHP4 | c.4114C>G (p.Leu1372Val) n.3265C>G c.*3015C>G (n.*3015C>G) n.2862C>G n.3846C>G c.*1925C>G (n.*1925C>G) c.2575C>G (p.Leu859Val) c.2578C>G (p.Leu860Val) n.4929C>G c.4111C>G (p.Leu1371Val) c.4072C>G (p.Leu1358Val) c.4003C>G (p.Leu1335Val) c.4060C>G (p.Leu1354Val) c.4069C>G (p.Leu1357Val) c.3586C>G (p.Leu1196Val) c.3316C>G (p.Leu1106Val) n.3980C>G n.3965C>G n.4881C>G | |
1 | g.5863916G= | CA1143974410 | NPHP4 | c.4114C= (p.Leu1372=) n.3265C= c.*3015C= (n.*3015C=) n.2862C= n.3846C= c.*1925C= (n.*1925C=) c.2575C= (p.Leu859=) c.2578C= (p.Leu860=) n.4929C= c.4111C= (p.Leu1371=) c.4072C= (p.Leu1358=) c.4003C= (p.Leu1335=) c.4060C= (p.Leu1354=) c.4069C= (p.Leu1357=) c.3586C= (p.Leu1196=) c.3316C= (p.Leu1106=) n.3980C= n.3965C= n.4881C= | |
1 | g.5863916G>T | CA338048848 | NPHP4 | c.4114C>A (p.Leu1372Met) n.3265C>A c.*3015C>A (n.*3015C>A) n.2862C>A n.3846C>A c.*1925C>A (n.*1925C>A) c.2575C>A (p.Leu859Met) c.2578C>A (p.Leu860Met) n.4929C>A c.4111C>A (p.Leu1371Met) c.4072C>A (p.Leu1358Met) c.4003C>A (p.Leu1335Met) c.4060C>A (p.Leu1354Met) c.4069C>A (p.Leu1357Met) c.3586C>A (p.Leu1196Met) c.3316C>A (p.Leu1106Met) n.3980C>A n.3965C>A n.4881C>A | |
1 | g.5863917C>A | CA553350 | NPHP4 | c.4113G>T (p.Leu1371=) n.3264G>T c.*3014G>T (n.*3014G>T) n.2861G>T n.3845G>T c.*1924G>T (n.*1924G>T) c.2574G>T (p.Leu858=) c.2577G>T (p.Leu859=) n.4928G>T c.4110G>T (p.Leu1370=) c.4071G>T (p.Leu1357=) c.4002G>T (p.Leu1334=) c.4059G>T (p.Leu1353=) c.4068G>T (p.Leu1356=) c.3585G>T (p.Leu1195=) c.3315G>T (p.Leu1105=) n.3979G>T n.3964G>T n.4880G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863917C= | CA1148435677 | NPHP4 | c.4113G= (p.Leu1371=) n.3264G= c.*3014G= (n.*3014G=) n.2861G= n.3845G= c.*1924G= (n.*1924G=) c.2574G= (p.Leu858=) c.2577G= (p.Leu859=) n.4928G= c.4110G= (p.Leu1370=) c.4071G= (p.Leu1357=) c.4002G= (p.Leu1334=) c.4059G= (p.Leu1353=) c.4068G= (p.Leu1356=) c.3585G= (p.Leu1195=) c.3315G= (p.Leu1105=) n.3979G= n.3964G= n.4880G= | |
1 | g.5863917C>G | CA415786962 | NPHP4 | c.4113G>C (p.Leu1371=) n.3264G>C c.*3014G>C (n.*3014G>C) n.2861G>C n.3845G>C c.*1924G>C (n.*1924G>C) c.2574G>C (p.Leu858=) c.2577G>C (p.Leu859=) n.4928G>C c.4110G>C (p.Leu1370=) c.4071G>C (p.Leu1357=) c.4002G>C (p.Leu1334=) c.4059G>C (p.Leu1353=) c.4068G>C (p.Leu1356=) c.3585G>C (p.Leu1195=) c.3315G>C (p.Leu1105=) n.3979G>C n.3964G>C n.4880G>C | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.5863917C>T | CA415786963 | NPHP4 | c.4113G>A (p.Leu1371=) n.3264G>A c.*3014G>A (n.*3014G>A) n.2861G>A n.3845G>A c.*1924G>A (n.*1924G>A) c.2574G>A (p.Leu858=) c.2577G>A (p.Leu859=) n.4928G>A c.4110G>A (p.Leu1370=) c.4071G>A (p.Leu1357=) c.4002G>A (p.Leu1334=) c.4059G>A (p.Leu1353=) c.4068G>A (p.Leu1356=) c.3585G>A (p.Leu1195=) c.3315G>A (p.Leu1105=) n.3979G>A n.3964G>A n.4880G>A | |
1 | g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTG | CA2552022047 | NPHP4 | c.4112_4113insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1372AsnfsTer33) n.3263_3264insCAATGAACCGCGGGTTGAAGGGTTC c.*3013_*3014insCAATGAACCGCGGGTTGAAGGGTTC (n.*3013_*3014insCAATGAACCGCGGGTTGAAGGGTTC) n.2860_2861insCAATGAACCGCGGGTTGAAGGGTTC n.3844_3845insCAATGAACCGCGGGTTGAAGGGTTC c.*1923_*1924insCAATGAACCGCGGGTTGAAGGGTTC (n.*1923_*1924insCAATGAACCGCGGGTTGAAGGGTTC) c.2573_2574insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu859AsnfsTer33) c.2576_2577insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu860AsnfsTer33) n.4927_4928insCAATGAACCGCGGGTTGAAGGGTTC c.4109_4110insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1371AsnfsTer33) c.4070_4071insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1358AsnfsTer33) c.4001_4002insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1335AsnfsTer33) c.4058_4059insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1354AsnfsTer33) c.4067_4068insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1357AsnfsTer33) c.3584_3585insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1196AsnfsTer33) c.3314_3315insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1106AsnfsTer33) n.3978_3979insCAATGAACCGCGGGTTGAAGGGTTC n.3963_3964insCAATGAACCGCGGGTTGAAGGGTTC n.4879_4880insCAATGAACCGCGGGTTGAAGGGTTC | |
1 | g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTGAG | CA2532726099 | NPHP4 | c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySer) n.3263_3264insCTCAATGAACCGCGGGTTGAAGGGTTC c.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC (n.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC) n.2860_2861insCTCAATGAACCGCGGGTTGAAGGGTTC n.3844_3845insCTCAATGAACCGCGGGTTGAAGGGTTC c.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC (n.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC) c.2573_2574insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu858_Leu859insSerMetAsnArgGlyLeuLysGlySer) c.2576_2577insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu859_Leu860insSerMetAsnArgGlyLeuLysGlySer) n.4927_4928insCTCAATGAACCGCGGGTTGAAGGGTTC c.4109_4110insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1370_Leu1371insSerMetAsnArgGlyLeuLysGlySer) c.4070_4071insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1357_Leu1358insSerMetAsnArgGlyLeuLysGlySer) c.4001_4002insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1334_Leu1335insSerMetAsnArgGlyLeuLysGlySer) c.4058_4059insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1353_Leu1354insSerMetAsnArgGlyLeuLysGlySer) c.4067_4068insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1356_Leu1357insSerMetAsnArgGlyLeuLysGlySer) c.3584_3585insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1195_Leu1196insSerMetAsnArgGlyLeuLysGlySer) c.3314_3315insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1105_Leu1106insSerMetAsnArgGlyLeuLysGlySer) n.3978_3979insCTCAATGAACCGCGGGTTGAAGGGTTC n.3963_3964insCTCAATGAACCGCGGGTTGAAGGGTTC n.4879_4880insCTCAATGAACCGCGGGTTGAAGGGTTC | |
1 | g.5863918A>C | CA338048851 | NPHP4 | c.4112T>G (p.Leu1371Arg) n.3263T>G c.*3013T>G (n.*3013T>G) n.2860T>G n.3844T>G c.*1923T>G (n.*1923T>G) c.2573T>G (p.Leu858Arg) c.2576T>G (p.Leu859Arg) n.4927T>G c.4109T>G (p.Leu1370Arg) c.4070T>G (p.Leu1357Arg) c.4001T>G (p.Leu1334Arg) c.4058T>G (p.Leu1353Arg) c.4067T>G (p.Leu1356Arg) c.3584T>G (p.Leu1195Arg) c.3314T>G (p.Leu1105Arg) n.3978T>G n.3963T>G n.4879T>G | |
1 | g.5863918A>G | CA338048853 | NPHP4 | c.4112T>C (p.Leu1371Pro) n.3263T>C c.*3013T>C (n.*3013T>C) n.2860T>C n.3844T>C c.*1923T>C (n.*1923T>C) c.2573T>C (p.Leu858Pro) c.2576T>C (p.Leu859Pro) n.4927T>C c.4109T>C (p.Leu1370Pro) c.4070T>C (p.Leu1357Pro) c.4001T>C (p.Leu1334Pro) c.4058T>C (p.Leu1353Pro) c.4067T>C (p.Leu1356Pro) c.3584T>C (p.Leu1195Pro) c.3314T>C (p.Leu1105Pro) n.3978T>C n.3963T>C n.4879T>C | |
1 | g.5863918A>T | CA338048855 | NPHP4 | c.4112T>A (p.Leu1371Gln) n.3263T>A c.*3013T>A (n.*3013T>A) n.2860T>A n.3844T>A c.*1923T>A (n.*1923T>A) c.2573T>A (p.Leu858Gln) c.2576T>A (p.Leu859Gln) n.4927T>A c.4109T>A (p.Leu1370Gln) c.4070T>A (p.Leu1357Gln) c.4001T>A (p.Leu1334Gln) c.4058T>A (p.Leu1353Gln) c.4067T>A (p.Leu1356Gln) c.3584T>A (p.Leu1195Gln) c.3314T>A (p.Leu1105Gln) n.3978T>A n.3963T>A n.4879T>A | |
1 | g.5863919G>A | CA553351 | NPHP4 | c.4111C>T (p.Leu1371=) n.3262C>T c.*3012C>T (n.*3012C>T) n.2859C>T n.3843C>T c.*1922C>T (n.*1922C>T) c.2572C>T (p.Leu858=) c.2575C>T (p.Leu859=) n.4926C>T c.4108C>T (p.Leu1370=) c.4069C>T (p.Leu1357=) c.4000C>T (p.Leu1334=) c.4057C>T (p.Leu1353=) c.4066C>T (p.Leu1356=) c.3583C>T (p.Leu1195=) c.3313C>T (p.Leu1105=) n.3977C>T n.3962C>T n.4878C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863919G>C | CA338048857 | NPHP4 | c.4111C>G (p.Leu1371Val) n.3262C>G c.*3012C>G (n.*3012C>G) n.2859C>G n.3843C>G c.*1922C>G (n.*1922C>G) c.2572C>G (p.Leu858Val) c.2575C>G (p.Leu859Val) n.4926C>G c.4108C>G (p.Leu1370Val) c.4069C>G (p.Leu1357Val) c.4000C>G (p.Leu1334Val) c.4057C>G (p.Leu1353Val) c.4066C>G (p.Leu1356Val) c.3583C>G (p.Leu1195Val) c.3313C>G (p.Leu1105Val) n.3977C>G n.3962C>G n.4878C>G | |
1 | g.5863919G= | CA1143606858 | NPHP4 | c.4111C= (p.Leu1371=) n.3262C= c.*3012C= (n.*3012C=) n.2859C= n.3843C= c.*1922C= (n.*1922C=) c.2572C= (p.Leu858=) c.2575C= (p.Leu859=) n.4926C= c.4108C= (p.Leu1370=) c.4069C= (p.Leu1357=) c.4000C= (p.Leu1334=) c.4057C= (p.Leu1353=) c.4066C= (p.Leu1356=) c.3583C= (p.Leu1195=) c.3313C= (p.Leu1105=) n.3977C= n.3962C= n.4878C= | |
1 | g.5863919G>T | CA338048858 | NPHP4 | c.4111C>A (p.Leu1371Met) n.3262C>A c.*3012C>A (n.*3012C>A) n.2859C>A n.3843C>A c.*1922C>A (n.*1922C>A) c.2572C>A (p.Leu858Met) c.2575C>A (p.Leu859Met) n.4926C>A c.4108C>A (p.Leu1370Met) c.4069C>A (p.Leu1357Met) c.4000C>A (p.Leu1334Met) c.4057C>A (p.Leu1353Met) c.4066C>A (p.Leu1356Met) c.3583C>A (p.Leu1195Met) c.3313C>A (p.Leu1105Met) n.3977C>A n.3962C>A n.4878C>A | |
1 | g.5863919_5863920insAGTGGCCGCGAAGACATTCAGCGCACCTACGACTAC | CA2537045425 | NPHP4 | c.4110_4111insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1370_Leu1371insValValValGlyAlaLeuAsnValPheAlaAlaThr) n.3261_3262insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT c.*3011_*3012insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (n.*3011_*3012insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT) n.2858_2859insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT n.3842_3843insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT c.*1921_*1922insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (n.*1921_*1922insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT) c.2571_2572insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu857_Leu858insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.2574_2575insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu858_Leu859insValValValGlyAlaLeuAsnValPheAlaAlaThr) n.4925_4926insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT c.4107_4108insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1369_Leu1370insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.4068_4069insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1356_Leu1357insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.3999_4000insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1333_Leu1334insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.4056_4057insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1352_Leu1353insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.4065_4066insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1355_Leu1356insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.3582_3583insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1194_Leu1195insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.3312_3313insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1104_Leu1105insValValValGlyAlaLeuAsnValPheAlaAlaThr) n.3976_3977insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT n.3961_3962insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT n.4877_4878insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT | |
1 | g.5863920C>A | CA338048860 | NPHP4 | c.4110G>T (p.Glu1370Asp) n.3261G>T c.*3011G>T (n.*3011G>T) n.2858G>T n.3842G>T c.*1921G>T (n.*1921G>T) c.2571G>T (p.Glu857Asp) c.2574G>T (p.Glu858Asp) n.4925G>T c.4107G>T (p.Glu1369Asp) c.4068G>T (p.Glu1356Asp) c.3999G>T (p.Glu1333Asp) c.4056G>T (p.Glu1352Asp) c.4065G>T (p.Glu1355Asp) c.3582G>T (p.Glu1194Asp) c.3312G>T (p.Glu1104Asp) n.3976G>T n.3961G>T n.4877G>T | |
1 | g.5863920C>G | CA338048863 | NPHP4 | c.4110G>C (p.Glu1370Asp) n.3261G>C c.*3011G>C (n.*3011G>C) n.2858G>C n.3842G>C c.*1921G>C (n.*1921G>C) c.2571G>C (p.Glu857Asp) c.2574G>C (p.Glu858Asp) n.4925G>C c.4107G>C (p.Glu1369Asp) c.4068G>C (p.Glu1356Asp) c.3999G>C (p.Glu1333Asp) c.4056G>C (p.Glu1352Asp) c.4065G>C (p.Glu1355Asp) c.3582G>C (p.Glu1194Asp) c.3312G>C (p.Glu1104Asp) n.3976G>C n.3961G>C n.4877G>C | |
1 | g.5863920C>T | CA415786964 | NPHP4 | c.4110G>A (p.Glu1370=) n.3261G>A c.*3011G>A (n.*3011G>A) n.2858G>A n.3842G>A c.*1921G>A (n.*1921G>A) c.2571G>A (p.Glu857=) c.2574G>A (p.Glu858=) n.4925G>A c.4107G>A (p.Glu1369=) c.4068G>A (p.Glu1356=) c.3999G>A (p.Glu1333=) c.4056G>A (p.Glu1352=) c.4065G>A (p.Glu1355=) c.3582G>A (p.Glu1194=) c.3312G>A (p.Glu1104=) n.3976G>A n.3961G>A n.4877G>A | |
1 | g.5863921_5863922del | CA2642901858 | NPHP4 | c.4109_4110del (p.Glu1370AlafsTer26) n.3260_3261del c.*3010_*3011del (n.*3010_*3011del) n.2857_2858del n.3841_3842del c.*1920_*1921del (n.*1920_*1921del) c.2570_2571del (p.Glu857AlafsTer26) c.2573_2574del (p.Glu858AlafsTer26) n.4924_4925del c.4106_4107del (p.Glu1369AlafsTer26) c.4067_4068del (p.Glu1356AlafsTer26) c.3998_3999del (p.Glu1333AlafsTer26) c.4055_4056del (p.Glu1352AlafsTer26) c.4064_4065del (p.Glu1355AlafsTer26) c.3581_3582del (p.Glu1194AlafsTer26) c.3311_3312del (p.Glu1104AlafsTer26) n.3975_3976del n.3960_3961del n.4876_4877del | gnomAD v4 |
1 | g.5863920_5863921insGG | CA2540869744 | NPHP4 | c.4109_4110insCC (p.Glu1370AspfsTer?) n.3260_3261insCC c.*3010_*3011insCC (n.*3010_*3011insCC) n.2857_2858insCC n.3841_3842insCC c.*1920_*1921insCC (n.*1920_*1921insCC) c.2570_2571insCC (p.Glu857AspfsTer?) c.2573_2574insCC (p.Glu858AspfsTer?) n.4924_4925insCC c.4106_4107insCC (p.Glu1369AspfsTer?) c.4067_4068insCC (p.Glu1356AspfsTer?) c.3998_3999insCC (p.Glu1333AspfsTer?) c.4055_4056insCC (p.Glu1352AspfsTer?) c.4064_4065insCC (p.Glu1355AspfsTer?) c.3581_3582insCC (p.Glu1194AspfsTer?) c.3311_3312insCC (p.Glu1104AspfsTer?) n.3975_3976insCC n.3960_3961insCC n.4876_4877insCC | |
1 | g.5863920_5863921insGGCCGCGAAGACAT | CA2515184818 | NPHP4 | c.4109_4110insATGTCTTCGCGGCC (p.Leu1371CysfsTer?) n.3260_3261insATGTCTTCGCGGCC c.*3010_*3011insATGTCTTCGCGGCC (n.*3010_*3011insATGTCTTCGCGGCC) n.2857_2858insATGTCTTCGCGGCC n.3841_3842insATGTCTTCGCGGCC c.*1920_*1921insATGTCTTCGCGGCC (n.*1920_*1921insATGTCTTCGCGGCC) c.2570_2571insATGTCTTCGCGGCC (p.Leu858CysfsTer?) c.2573_2574insATGTCTTCGCGGCC (p.Leu859CysfsTer?) n.4924_4925insATGTCTTCGCGGCC c.4106_4107insATGTCTTCGCGGCC (p.Leu1370CysfsTer?) c.4067_4068insATGTCTTCGCGGCC (p.Leu1357CysfsTer?) c.3998_3999insATGTCTTCGCGGCC (p.Leu1334CysfsTer?) c.4055_4056insATGTCTTCGCGGCC (p.Leu1353CysfsTer?) c.4064_4065insATGTCTTCGCGGCC (p.Leu1356CysfsTer?) c.3581_3582insATGTCTTCGCGGCC (p.Leu1195CysfsTer?) c.3311_3312insATGTCTTCGCGGCC (p.Leu1105CysfsTer?) n.3975_3976insATGTCTTCGCGGCC n.3960_3961insATGTCTTCGCGGCC n.4876_4877insATGTCTTCGCGGCC | |
1 | g.5863921T>A | CA338048864 | NPHP4 | c.4109A>T (p.Glu1370Val) n.3260A>T c.*3010A>T (n.*3010A>T) n.2857A>T n.3841A>T c.*1920A>T (n.*1920A>T) c.2570A>T (p.Glu857Val) c.2573A>T (p.Glu858Val) n.4924A>T c.4106A>T (p.Glu1369Val) c.4067A>T (p.Glu1356Val) c.3998A>T (p.Glu1333Val) c.4055A>T (p.Glu1352Val) c.4064A>T (p.Glu1355Val) c.3581A>T (p.Glu1194Val) c.3311A>T (p.Glu1104Val) n.3975A>T n.3960A>T n.4876A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863921T>C | CA338048868 | NPHP4 | c.4109A>G (p.Glu1370Gly) n.3260A>G c.*3010A>G (n.*3010A>G) n.2857A>G n.3841A>G c.*1920A>G (n.*1920A>G) c.2570A>G (p.Glu857Gly) c.2573A>G (p.Glu858Gly) n.4924A>G c.4106A>G (p.Glu1369Gly) c.4067A>G (p.Glu1356Gly) c.3998A>G (p.Glu1333Gly) c.4055A>G (p.Glu1352Gly) c.4064A>G (p.Glu1355Gly) c.3581A>G (p.Glu1194Gly) c.3311A>G (p.Glu1104Gly) n.3975A>G n.3960A>G n.4876A>G | |
1 | g.5863921T>G | CA338048865 | NPHP4 | c.4109A>C (p.Glu1370Ala) n.3260A>C c.*3010A>C (n.*3010A>C) n.2857A>C n.3841A>C c.*1920A>C (n.*1920A>C) c.2570A>C (p.Glu857Ala) c.2573A>C (p.Glu858Ala) n.4924A>C c.4106A>C (p.Glu1369Ala) c.4067A>C (p.Glu1356Ala) c.3998A>C (p.Glu1333Ala) c.4055A>C (p.Glu1352Ala) c.4064A>C (p.Glu1355Ala) c.3581A>C (p.Glu1194Ala) c.3311A>C (p.Glu1104Ala) n.3975A>C n.3960A>C n.4876A>C | gnomAD v4 |
1 | g.5863921T= | CA1151209125 | NPHP4 | c.4109A= (p.Glu1370=) n.3260A= c.*3010A= (n.*3010A=) n.2857A= n.3841A= c.*1920A= (n.*1920A=) c.2570A= (p.Glu857=) c.2573A= (p.Glu858=) n.4924A= c.4106A= (p.Glu1369=) c.4067A= (p.Glu1356=) c.3998A= (p.Glu1333=) c.4055A= (p.Glu1352=) c.4064A= (p.Glu1355=) c.3581A= (p.Glu1194=) c.3311A= (p.Glu1104=) n.3975A= n.3960A= n.4876A= | |
1 | g.5863922C>A | CA338048870 | NPHP4 | c.4108G>T (p.Glu1370Ter) n.3259G>T c.*3009G>T (n.*3009G>T) n.2856G>T n.3840G>T c.*1919G>T (n.*1919G>T) c.2569G>T (p.Glu857Ter) c.2572G>T (p.Glu858Ter) n.4923G>T c.4105G>T (p.Glu1369Ter) c.4066G>T (p.Glu1356Ter) c.3997G>T (p.Glu1333Ter) c.4054G>T (p.Glu1352Ter) c.4063G>T (p.Glu1355Ter) c.3580G>T (p.Glu1194Ter) c.3310G>T (p.Glu1104Ter) n.3974G>T n.3959G>T n.4875G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863922C= | CA1151209131 | NPHP4 | c.4108G= (p.Glu1370=) n.3259G= c.*3009G= (n.*3009G=) n.2856G= n.3840G= c.*1919G= (n.*1919G=) c.2569G= (p.Glu857=) c.2572G= (p.Glu858=) n.4923G= c.4105G= (p.Glu1369=) c.4066G= (p.Glu1356=) c.3997G= (p.Glu1333=) c.4054G= (p.Glu1352=) c.4063G= (p.Glu1355=) c.3580G= (p.Glu1194=) c.3310G= (p.Glu1104=) n.3974G= n.3959G= n.4875G= | |
1 | g.5863922C>G | CA338048872 | NPHP4 | c.4108G>C (p.Glu1370Gln) n.3259G>C c.*3009G>C (n.*3009G>C) n.2856G>C n.3840G>C c.*1919G>C (n.*1919G>C) c.2569G>C (p.Glu857Gln) c.2572G>C (p.Glu858Gln) n.4923G>C c.4105G>C (p.Glu1369Gln) c.4066G>C (p.Glu1356Gln) c.3997G>C (p.Glu1333Gln) c.4054G>C (p.Glu1352Gln) c.4063G>C (p.Glu1355Gln) c.3580G>C (p.Glu1194Gln) c.3310G>C (p.Glu1104Gln) n.3974G>C n.3959G>C n.4875G>C | |
1 | g.5863922C>T | CA338048873 | NPHP4 | c.4108G>A (p.Glu1370Lys) n.3259G>A c.*3009G>A (n.*3009G>A) n.2856G>A n.3840G>A c.*1919G>A (n.*1919G>A) c.2569G>A (p.Glu857Lys) c.2572G>A (p.Glu858Lys) n.4923G>A c.4105G>A (p.Glu1369Lys) c.4066G>A (p.Glu1356Lys) c.3997G>A (p.Glu1333Lys) c.4054G>A (p.Glu1352Lys) c.4063G>A (p.Glu1355Lys) c.3580G>A (p.Glu1194Lys) c.3310G>A (p.Glu1104Lys) n.3974G>A n.3959G>A n.4875G>A | |
1 | g.5863922_5863923insGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACCGTGTACTGCTT | CA2570248983 | NPHP4 | c.4107_4108insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1370LysfsTer?) n.3258_3259insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC c.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (n.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC) n.2855_2856insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC n.3839_3840insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC c.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (n.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC) c.2568_2569insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu857LysfsTer?) c.2571_2572insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu858LysfsTer?) n.4922_4923insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC c.4104_4105insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1369LysfsTer?) c.4065_4066insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1356LysfsTer?) c.3996_3997insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1333LysfsTer?) c.4053_4054insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1352LysfsTer?) c.4062_4063insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1355LysfsTer?) c.3579_3580insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1194LysfsTer?) c.3309_3310insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1104LysfsTer?) n.3973_3974insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC n.3958_3959insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC n.4874_4875insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC | |
1 | g.5863922_5863923insAGCGCACCTATGACTACCTCGAGCACATGGAGCTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2536038692 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT | |
1 | g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTTAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2511156962 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT | |
1 | g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAATTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2543593564 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT | |
1 | g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2561931016 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT | |
1 | g.5863922_5863923insGCGAAGATATTCAGCGTACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACCGTGTACTGCTT | CA2561929802 | NPHP4 | c.4107_4108insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC c.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (n.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC) n.2855_2856insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC n.3839_3840insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC c.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (n.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC) c.2568_2569insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC c.4104_4105insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC n.3958_3959insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC n.4874_4875insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC | |
1 | g.5863923C>A | CA415786966 | NPHP4 | c.4107G>T (p.Pro1369=) n.3258G>T c.*3008G>T (n.*3008G>T) n.2855G>T n.3839G>T c.*1918G>T (n.*1918G>T) c.2568G>T (p.Pro856=) c.2571G>T (p.Pro857=) n.4922G>T c.4104G>T (p.Pro1368=) c.4065G>T (p.Pro1355=) c.3996G>T (p.Pro1332=) c.4053G>T (p.Pro1351=) c.4062G>T (p.Pro1354=) c.3579G>T (p.Pro1193=) c.3309G>T (p.Pro1103=) n.3973G>T n.3958G>T n.4874G>T | |
1 | g.5863923C= | CA1143426023 | NPHP4 | c.4107G= (p.Pro1369=) n.3258G= c.*3008G= (n.*3008G=) n.2855G= n.3839G= c.*1918G= (n.*1918G=) c.2568G= (p.Pro856=) c.2571G= (p.Pro857=) n.4922G= c.4104G= (p.Pro1368=) c.4065G= (p.Pro1355=) c.3996G= (p.Pro1332=) c.4053G= (p.Pro1351=) c.4062G= (p.Pro1354=) c.3579G= (p.Pro1193=) c.3309G= (p.Pro1103=) n.3973G= n.3958G= n.4874G= | |
1 | g.5863923C>G | CA415786967 | NPHP4 | c.4107G>C (p.Pro1369=) n.3258G>C c.*3008G>C (n.*3008G>C) n.2855G>C n.3839G>C c.*1918G>C (n.*1918G>C) c.2568G>C (p.Pro856=) c.2571G>C (p.Pro857=) n.4922G>C c.4104G>C (p.Pro1368=) c.4065G>C (p.Pro1355=) c.3996G>C (p.Pro1332=) c.4053G>C (p.Pro1351=) c.4062G>C (p.Pro1354=) c.3579G>C (p.Pro1193=) c.3309G>C (p.Pro1103=) n.3973G>C n.3958G>C n.4874G>C | |
1 | g.5863923C>T | CA553352 | NPHP4 | c.4107G>A (p.Pro1369=) n.3258G>A c.*3008G>A (n.*3008G>A) n.2855G>A n.3839G>A c.*1918G>A (n.*1918G>A) c.2568G>A (p.Pro856=) c.2571G>A (p.Pro857=) n.4922G>A c.4104G>A (p.Pro1368=) c.4065G>A (p.Pro1355=) c.3996G>A (p.Pro1332=) c.4053G>A (p.Pro1351=) c.4062G>A (p.Pro1354=) c.3579G>A (p.Pro1193=) c.3309G>A (p.Pro1103=) n.3973G>A n.3958G>A n.4874G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863924G>A | CA553353 | NPHP4 | c.4106C>T (p.Pro1369Leu) n.3257C>T c.*3007C>T (n.*3007C>T) n.2854C>T n.3838C>T c.*1917C>T (n.*1917C>T) c.2567C>T (p.Pro856Leu) c.2570C>T (p.Pro857Leu) n.4921C>T c.4103C>T (p.Pro1368Leu) c.4064C>T (p.Pro1355Leu) c.3995C>T (p.Pro1332Leu) c.4052C>T (p.Pro1351Leu) c.4061C>T (p.Pro1354Leu) c.3578C>T (p.Pro1193Leu) c.3308C>T (p.Pro1103Leu) n.3972C>T n.3957C>T n.4873C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863924G>C | CA338048877 | NPHP4 | c.4106C>G (p.Pro1369Arg) n.3257C>G c.*3007C>G (n.*3007C>G) n.2854C>G n.3838C>G c.*1917C>G (n.*1917C>G) c.2567C>G (p.Pro856Arg) c.2570C>G (p.Pro857Arg) n.4921C>G c.4103C>G (p.Pro1368Arg) c.4064C>G (p.Pro1355Arg) c.3995C>G (p.Pro1332Arg) c.4052C>G (p.Pro1351Arg) c.4061C>G (p.Pro1354Arg) c.3578C>G (p.Pro1193Arg) c.3308C>G (p.Pro1103Arg) n.3972C>G n.3957C>G n.4873C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863924G= | CA1148296660 | NPHP4 | c.4106C= (p.Pro1369=) n.3257C= c.*3007C= (n.*3007C=) n.2854C= n.3838C= c.*1917C= (n.*1917C=) c.2567C= (p.Pro856=) c.2570C= (p.Pro857=) n.4921C= c.4103C= (p.Pro1368=) c.4064C= (p.Pro1355=) c.3995C= (p.Pro1332=) c.4052C= (p.Pro1351=) c.4061C= (p.Pro1354=) c.3578C= (p.Pro1193=) c.3308C= (p.Pro1103=) n.3972C= n.3957C= n.4873C= | |
1 | g.5863924G>T | CA338048878 | NPHP4 | c.4106C>A (p.Pro1369Gln) n.3257C>A c.*3007C>A (n.*3007C>A) n.2854C>A n.3838C>A c.*1917C>A (n.*1917C>A) c.2567C>A (p.Pro856Gln) c.2570C>A (p.Pro857Gln) n.4921C>A c.4103C>A (p.Pro1368Gln) c.4064C>A (p.Pro1355Gln) c.3995C>A (p.Pro1332Gln) c.4052C>A (p.Pro1351Gln) c.4061C>A (p.Pro1354Gln) c.3578C>A (p.Pro1193Gln) c.3308C>A (p.Pro1103Gln) n.3972C>A n.3957C>A n.4873C>A | |
1 | g.5863925G>A | CA553354 | NPHP4 | c.4105C>T (p.Pro1369Ser) n.3256C>T c.*3006C>T (n.*3006C>T) n.2853C>T n.3837C>T c.*1916C>T (n.*1916C>T) c.2566C>T (p.Pro856Ser) c.2569C>T (p.Pro857Ser) n.4920C>T c.4102C>T (p.Pro1368Ser) c.4063C>T (p.Pro1355Ser) c.3994C>T (p.Pro1332Ser) c.4051C>T (p.Pro1351Ser) c.4060C>T (p.Pro1354Ser) c.3577C>T (p.Pro1193Ser) c.3307C>T (p.Pro1103Ser) n.3971C>T n.3956C>T n.4872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863925G>C | CA338048881 | NPHP4 | c.4105C>G (p.Pro1369Ala) n.3256C>G c.*3006C>G (n.*3006C>G) n.2853C>G n.3837C>G c.*1916C>G (n.*1916C>G) c.2566C>G (p.Pro856Ala) c.2569C>G (p.Pro857Ala) n.4920C>G c.4102C>G (p.Pro1368Ala) c.4063C>G (p.Pro1355Ala) c.3994C>G (p.Pro1332Ala) c.4051C>G (p.Pro1351Ala) c.4060C>G (p.Pro1354Ala) c.3577C>G (p.Pro1193Ala) c.3307C>G (p.Pro1103Ala) n.3971C>G n.3956C>G n.4872C>G | |
1 | g.5863925G= | CA1144142368 | NPHP4 | c.4105C= (p.Pro1369=) n.3256C= c.*3006C= (n.*3006C=) n.2853C= n.3837C= c.*1916C= (n.*1916C=) c.2566C= (p.Pro856=) c.2569C= (p.Pro857=) n.4920C= c.4102C= (p.Pro1368=) c.4063C= (p.Pro1355=) c.3994C= (p.Pro1332=) c.4051C= (p.Pro1351=) c.4060C= (p.Pro1354=) c.3577C= (p.Pro1193=) c.3307C= (p.Pro1103=) n.3971C= n.3956C= n.4872C= | |
1 | g.5863925G>T | CA338048883 | NPHP4 | c.4105C>A (p.Pro1369Thr) n.3256C>A c.*3006C>A (n.*3006C>A) n.2853C>A n.3837C>A c.*1916C>A (n.*1916C>A) c.2566C>A (p.Pro856Thr) c.2569C>A (p.Pro857Thr) n.4920C>A c.4102C>A (p.Pro1368Thr) c.4063C>A (p.Pro1355Thr) c.3994C>A (p.Pro1332Thr) c.4051C>A (p.Pro1351Thr) c.4060C>A (p.Pro1354Thr) c.3577C>A (p.Pro1193Thr) c.3307C>A (p.Pro1103Thr) n.3971C>A n.3956C>A n.4872C>A | |
1 | g.5863926G>A | CA415786973 | NPHP4 | c.4104C>T (p.His1368=) n.3255C>T c.*3005C>T (n.*3005C>T) n.2852C>T n.3836C>T c.*1915C>T (n.*1915C>T) c.2565C>T (p.His855=) c.2568C>T (p.His856=) n.4919C>T c.4101C>T (p.His1367=) c.4062C>T (p.His1354=) c.3993C>T (p.His1331=) c.4050C>T (p.His1350=) c.4059C>T (p.His1353=) c.3576C>T (p.His1192=) c.3306C>T (p.His1102=) n.3970C>T n.3955C>T n.4871C>T | |
1 | g.5863926G>C | CA338048885 | NPHP4 | c.4104C>G (p.His1368Gln) n.3255C>G c.*3005C>G (n.*3005C>G) n.2852C>G n.3836C>G c.*1915C>G (n.*1915C>G) c.2565C>G (p.His855Gln) c.2568C>G (p.His856Gln) n.4919C>G c.4101C>G (p.His1367Gln) c.4062C>G (p.His1354Gln) c.3993C>G (p.His1331Gln) c.4050C>G (p.His1350Gln) c.4059C>G (p.His1353Gln) c.3576C>G (p.His1192Gln) c.3306C>G (p.His1102Gln) n.3970C>G n.3955C>G n.4871C>G | |
1 | g.5863926G>T | CA338048887 | NPHP4 | c.4104C>A (p.His1368Gln) n.3255C>A c.*3005C>A (n.*3005C>A) n.2852C>A n.3836C>A c.*1915C>A (n.*1915C>A) c.2565C>A (p.His855Gln) c.2568C>A (p.His856Gln) n.4919C>A c.4101C>A (p.His1367Gln) c.4062C>A (p.His1354Gln) c.3993C>A (p.His1331Gln) c.4050C>A (p.His1350Gln) c.4059C>A (p.His1353Gln) c.3576C>A (p.His1192Gln) c.3306C>A (p.His1102Gln) n.3970C>A n.3955C>A n.4871C>A | |
1 | g.5863927T>A | CA338048891 | NPHP4 | c.4103A>T (p.His1368Leu) n.3254A>T c.*3004A>T (n.*3004A>T) n.2851A>T n.3835A>T c.*1914A>T (n.*1914A>T) c.2564A>T (p.His855Leu) c.2567A>T (p.His856Leu) n.4918A>T c.4100A>T (p.His1367Leu) c.4061A>T (p.His1354Leu) c.3992A>T (p.His1331Leu) c.4049A>T (p.His1350Leu) c.4058A>T (p.His1353Leu) c.3575A>T (p.His1192Leu) c.3305A>T (p.His1102Leu) n.3969A>T n.3954A>T n.4870A>T | |
1 | g.5863927T>C | CA338048889 | NPHP4 | c.4103A>G (p.His1368Arg) n.3254A>G c.*3004A>G (n.*3004A>G) n.2851A>G n.3835A>G c.*1914A>G (n.*1914A>G) c.2564A>G (p.His855Arg) c.2567A>G (p.His856Arg) n.4918A>G c.4100A>G (p.His1367Arg) c.4061A>G (p.His1354Arg) c.3992A>G (p.His1331Arg) c.4049A>G (p.His1350Arg) c.4058A>G (p.His1353Arg) c.3575A>G (p.His1192Arg) c.3305A>G (p.His1102Arg) n.3969A>G n.3954A>G n.4870A>G | gnomAD v4 |
1 | g.5863927T>G | CA338048890 | NPHP4 | c.4103A>C (p.His1368Pro) n.3254A>C c.*3004A>C (n.*3004A>C) n.2851A>C n.3835A>C c.*1914A>C (n.*1914A>C) c.2564A>C (p.His855Pro) c.2567A>C (p.His856Pro) n.4918A>C c.4100A>C (p.His1367Pro) c.4061A>C (p.His1354Pro) c.3992A>C (p.His1331Pro) c.4049A>C (p.His1350Pro) c.4058A>C (p.His1353Pro) c.3575A>C (p.His1192Pro) c.3305A>C (p.His1102Pro) n.3969A>C n.3954A>C n.4870A>C | COSMIC |
1 | g.5863928G>A | CA338048892 | NPHP4 | c.4102C>T (p.His1368Tyr) n.3253C>T c.*3003C>T (n.*3003C>T) n.2850C>T n.3834C>T c.*1913C>T (n.*1913C>T) c.2563C>T (p.His855Tyr) c.2566C>T (p.His856Tyr) n.4917C>T c.4099C>T (p.His1367Tyr) c.4060C>T (p.His1354Tyr) c.3991C>T (p.His1331Tyr) c.4048C>T (p.His1350Tyr) c.4057C>T (p.His1353Tyr) c.3574C>T (p.His1192Tyr) c.3304C>T (p.His1102Tyr) n.3968C>T n.3953C>T n.4869C>T | dbSNP |
1 | g.5863928G>C | CA338048893 | NPHP4 | c.4102C>G (p.His1368Asp) n.3253C>G c.*3003C>G (n.*3003C>G) n.2850C>G n.3834C>G c.*1913C>G (n.*1913C>G) c.2563C>G (p.His855Asp) c.2566C>G (p.His856Asp) n.4917C>G c.4099C>G (p.His1367Asp) c.4060C>G (p.His1354Asp) c.3991C>G (p.His1331Asp) c.4048C>G (p.His1350Asp) c.4057C>G (p.His1353Asp) c.3574C>G (p.His1192Asp) c.3304C>G (p.His1102Asp) n.3968C>G n.3953C>G n.4869C>G | |
1 | g.5863928G= | CA1151209142 | NPHP4 | c.4102C= (p.His1368=) n.3253C= c.*3003C= (n.*3003C=) n.2850C= n.3834C= c.*1913C= (n.*1913C=) c.2563C= (p.His855=) c.2566C= (p.His856=) n.4917C= c.4099C= (p.His1367=) c.4060C= (p.His1354=) c.3991C= (p.His1331=) c.4048C= (p.His1350=) c.4057C= (p.His1353=) c.3574C= (p.His1192=) c.3304C= (p.His1102=) n.3968C= n.3953C= n.4869C= | |
1 | g.5863928G>T | CA338048894 | NPHP4 | c.4102C>A (p.His1368Asn) n.3253C>A c.*3003C>A (n.*3003C>A) n.2850C>A n.3834C>A c.*1913C>A (n.*1913C>A) c.2563C>A (p.His855Asn) c.2566C>A (p.His856Asn) n.4917C>A c.4099C>A (p.His1367Asn) c.4060C>A (p.His1354Asn) c.3991C>A (p.His1331Asn) c.4048C>A (p.His1350Asn) c.4057C>A (p.His1353Asn) c.3574C>A (p.His1192Asn) c.3304C>A (p.His1102Asn) n.3968C>A n.3953C>A n.4869C>A | |
1 | g.5863929G>A | CA17124844 | NPHP4 | c.4101C>T (p.Asp1367=) n.3252C>T c.*3002C>T (n.*3002C>T) n.2849C>T n.3833C>T c.*1912C>T (n.*1912C>T) c.2562C>T (p.Asp854=) c.2565C>T (p.Asp855=) n.4916C>T c.4098C>T (p.Asp1366=) c.4059C>T (p.Asp1353=) c.3990C>T (p.Asp1330=) c.4047C>T (p.Asp1349=) c.4056C>T (p.Asp1352=) c.3573C>T (p.Asp1191=) c.3303C>T (p.Asp1101=) n.3967C>T n.3952C>T n.4868C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863929G>C | CA338048895 | NPHP4 | c.4101C>G (p.Asp1367Glu) n.3252C>G c.*3002C>G (n.*3002C>G) n.2849C>G n.3833C>G c.*1912C>G (n.*1912C>G) c.2562C>G (p.Asp854Glu) c.2565C>G (p.Asp855Glu) n.4916C>G c.4098C>G (p.Asp1366Glu) c.4059C>G (p.Asp1353Glu) c.3990C>G (p.Asp1330Glu) c.4047C>G (p.Asp1349Glu) c.4056C>G (p.Asp1352Glu) c.3573C>G (p.Asp1191Glu) c.3303C>G (p.Asp1101Glu) n.3967C>G n.3952C>G n.4868C>G | |
1 | g.5863929G= | CA1151209145 | NPHP4 | c.4101C= (p.Asp1367=) n.3252C= c.*3002C= (n.*3002C=) n.2849C= n.3833C= c.*1912C= (n.*1912C=) c.2562C= (p.Asp854=) c.2565C= (p.Asp855=) n.4916C= c.4098C= (p.Asp1366=) c.4059C= (p.Asp1353=) c.3990C= (p.Asp1330=) c.4047C= (p.Asp1349=) c.4056C= (p.Asp1352=) c.3573C= (p.Asp1191=) c.3303C= (p.Asp1101=) n.3967C= n.3952C= n.4868C= | |
1 | g.5863929G>T | CA338048896 | NPHP4 | c.4101C>A (p.Asp1367Glu) n.3252C>A c.*3002C>A (n.*3002C>A) n.2849C>A n.3833C>A c.*1912C>A (n.*1912C>A) c.2562C>A (p.Asp854Glu) c.2565C>A (p.Asp855Glu) n.4916C>A c.4098C>A (p.Asp1366Glu) c.4059C>A (p.Asp1353Glu) c.3990C>A (p.Asp1330Glu) c.4047C>A (p.Asp1349Glu) c.4056C>A (p.Asp1352Glu) c.3573C>A (p.Asp1191Glu) c.3303C>A (p.Asp1101Glu) n.3967C>A n.3952C>A n.4868C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863930T>A | CA338048898 | NPHP4 | c.4100A>T (p.Asp1367Val) n.3251A>T c.*3001A>T (n.*3001A>T) n.2848A>T n.3832A>T c.*1911A>T (n.*1911A>T) c.2561A>T (p.Asp854Val) c.2564A>T (p.Asp855Val) n.4915A>T c.4097A>T (p.Asp1366Val) c.4058A>T (p.Asp1353Val) c.3989A>T (p.Asp1330Val) c.4046A>T (p.Asp1349Val) c.4055A>T (p.Asp1352Val) c.3572A>T (p.Asp1191Val) c.3302A>T (p.Asp1101Val) n.3966A>T n.3951A>T n.4867A>T | |
1 | g.5863930T>C | CA338048899 | NPHP4 | c.4100A>G (p.Asp1367Gly) n.3251A>G c.*3001A>G (n.*3001A>G) n.2848A>G n.3832A>G c.*1911A>G (n.*1911A>G) c.2561A>G (p.Asp854Gly) c.2564A>G (p.Asp855Gly) n.4915A>G c.4097A>G (p.Asp1366Gly) c.4058A>G (p.Asp1353Gly) c.3989A>G (p.Asp1330Gly) c.4046A>G (p.Asp1349Gly) c.4055A>G (p.Asp1352Gly) c.3572A>G (p.Asp1191Gly) c.3302A>G (p.Asp1101Gly) n.3966A>G n.3951A>G n.4867A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863930T>G | CA338048901 | NPHP4 | c.4100A>C (p.Asp1367Ala) n.3251A>C c.*3001A>C (n.*3001A>C) n.2848A>C n.3832A>C c.*1911A>C (n.*1911A>C) c.2561A>C (p.Asp854Ala) c.2564A>C (p.Asp855Ala) n.4915A>C c.4097A>C (p.Asp1366Ala) c.4058A>C (p.Asp1353Ala) c.3989A>C (p.Asp1330Ala) c.4046A>C (p.Asp1349Ala) c.4055A>C (p.Asp1352Ala) c.3572A>C (p.Asp1191Ala) c.3302A>C (p.Asp1101Ala) n.3966A>C n.3951A>C n.4867A>C | |
1 | g.5863930T= | CA1151209151 | NPHP4 | c.4100A= (p.Asp1367=) n.3251A= c.*3001A= (n.*3001A=) n.2848A= n.3832A= c.*1911A= (n.*1911A=) c.2561A= (p.Asp854=) c.2564A= (p.Asp855=) n.4915A= c.4097A= (p.Asp1366=) c.4058A= (p.Asp1353=) c.3989A= (p.Asp1330=) c.4046A= (p.Asp1349=) c.4055A= (p.Asp1352=) c.3572A= (p.Asp1191=) c.3302A= (p.Asp1101=) n.3966A= n.3951A= n.4867A= | |
1 | g.5863931C>A | CA338048904 | NPHP4 | c.4099G>T (p.Asp1367Tyr) n.3250G>T c.*3000G>T (n.*3000G>T) n.2847G>T n.3831G>T c.*1910G>T (n.*1910G>T) c.2560G>T (p.Asp854Tyr) c.2563G>T (p.Asp855Tyr) n.4914G>T c.4096G>T (p.Asp1366Tyr) c.4057G>T (p.Asp1353Tyr) c.3988G>T (p.Asp1330Tyr) c.4045G>T (p.Asp1349Tyr) c.4054G>T (p.Asp1352Tyr) c.3571G>T (p.Asp1191Tyr) c.3301G>T (p.Asp1101Tyr) n.3965G>T n.3950G>T n.4866G>T | |
1 | g.5863931C= | CA1143543632 | NPHP4 | c.4099G= (p.Asp1367=) n.3250G= c.*3000G= (n.*3000G=) n.2847G= n.3831G= c.*1910G= (n.*1910G=) c.2560G= (p.Asp854=) c.2563G= (p.Asp855=) n.4914G= c.4096G= (p.Asp1366=) c.4057G= (p.Asp1353=) c.3988G= (p.Asp1330=) c.4045G= (p.Asp1349=) c.4054G= (p.Asp1352=) c.3571G= (p.Asp1191=) c.3301G= (p.Asp1101=) n.3965G= n.3950G= n.4866G= | |
1 | g.5863931C>G | CA338048905 | NPHP4 | c.4099G>C (p.Asp1367His) n.3250G>C c.*3000G>C (n.*3000G>C) n.2847G>C n.3831G>C c.*1910G>C (n.*1910G>C) c.2560G>C (p.Asp854His) c.2563G>C (p.Asp855His) n.4914G>C c.4096G>C (p.Asp1366His) c.4057G>C (p.Asp1353His) c.3988G>C (p.Asp1330His) c.4045G>C (p.Asp1349His) c.4054G>C (p.Asp1352His) c.3571G>C (p.Asp1191His) c.3301G>C (p.Asp1101His) n.3965G>C n.3950G>C n.4866G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863931C>T | CA553355 | NPHP4 | c.4099G>A (p.Asp1367Asn) n.3250G>A c.*3000G>A (n.*3000G>A) n.2847G>A n.3831G>A c.*1910G>A (n.*1910G>A) c.2560G>A (p.Asp854Asn) c.2563G>A (p.Asp855Asn) n.4914G>A c.4096G>A (p.Asp1366Asn) c.4057G>A (p.Asp1353Asn) c.3988G>A (p.Asp1330Asn) c.4045G>A (p.Asp1349Asn) c.4054G>A (p.Asp1352Asn) c.3571G>A (p.Asp1191Asn) c.3301G>A (p.Asp1101Asn) n.3965G>A n.3950G>A n.4866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863932G>A | CA17124846 | NPHP4 | c.4098C>T (p.Ser1366=) n.3249C>T c.*2999C>T (n.*2999C>T) n.2846C>T n.3830C>T c.*1909C>T (n.*1909C>T) c.2559C>T (p.Ser853=) c.2562C>T (p.Ser854=) n.4913C>T c.4095C>T (p.Ser1365=) c.4056C>T (p.Ser1352=) c.3987C>T (p.Ser1329=) c.4044C>T (p.Ser1348=) c.4053C>T (p.Ser1351=) c.3570C>T (p.Ser1190=) c.3300C>T (p.Ser1100=) n.3964C>T n.3949C>T n.4865C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863932G>C | CA338048910 | NPHP4 | c.4098C>G (p.Ser1366Arg) n.3249C>G c.*2999C>G (n.*2999C>G) n.2846C>G n.3830C>G c.*1909C>G (n.*1909C>G) c.2559C>G (p.Ser853Arg) c.2562C>G (p.Ser854Arg) n.4913C>G c.4095C>G (p.Ser1365Arg) c.4056C>G (p.Ser1352Arg) c.3987C>G (p.Ser1329Arg) c.4044C>G (p.Ser1348Arg) c.4053C>G (p.Ser1351Arg) c.3570C>G (p.Ser1190Arg) c.3300C>G (p.Ser1100Arg) n.3964C>G n.3949C>G n.4865C>G | |
1 | g.5863932G= | CA1143821227 | NPHP4 | c.4098C= (p.Ser1366=) n.3249C= c.*2999C= (n.*2999C=) n.2846C= n.3830C= c.*1909C= (n.*1909C=) c.2559C= (p.Ser853=) c.2562C= (p.Ser854=) n.4913C= c.4095C= (p.Ser1365=) c.4056C= (p.Ser1352=) c.3987C= (p.Ser1329=) c.4044C= (p.Ser1348=) c.4053C= (p.Ser1351=) c.3570C= (p.Ser1190=) c.3300C= (p.Ser1100=) n.3964C= n.3949C= n.4865C= | |
1 | g.5863932G>T | CA338048908 | NPHP4 | c.4098C>A (p.Ser1366Arg) n.3249C>A c.*2999C>A (n.*2999C>A) n.2846C>A n.3830C>A c.*1909C>A (n.*1909C>A) c.2559C>A (p.Ser853Arg) c.2562C>A (p.Ser854Arg) n.4913C>A c.4095C>A (p.Ser1365Arg) c.4056C>A (p.Ser1352Arg) c.3987C>A (p.Ser1329Arg) c.4044C>A (p.Ser1348Arg) c.4053C>A (p.Ser1351Arg) c.3570C>A (p.Ser1190Arg) c.3300C>A (p.Ser1100Arg) n.3964C>A n.3949C>A n.4865C>A | gnomAD v4 |
1 | g.5863933C>A | CA338048915 | NPHP4 | c.4097G>T (p.Ser1366Ile) n.3248G>T c.*2998G>T (n.*2998G>T) n.2845G>T n.3829G>T c.*1908G>T (n.*1908G>T) c.2558G>T (p.Ser853Ile) c.2561G>T (p.Ser854Ile) n.4912G>T c.4094G>T (p.Ser1365Ile) c.4055G>T (p.Ser1352Ile) c.3986G>T (p.Ser1329Ile) c.4043G>T (p.Ser1348Ile) c.4052G>T (p.Ser1351Ile) c.3569G>T (p.Ser1190Ile) c.3299G>T (p.Ser1100Ile) n.3963G>T n.3948G>T n.4864G>T | |
1 | g.5863933C>G | CA338048911 | NPHP4 | c.4097G>C (p.Ser1366Thr) n.3248G>C c.*2998G>C (n.*2998G>C) n.2845G>C n.3829G>C c.*1908G>C (n.*1908G>C) c.2558G>C (p.Ser853Thr) c.2561G>C (p.Ser854Thr) n.4912G>C c.4094G>C (p.Ser1365Thr) c.4055G>C (p.Ser1352Thr) c.3986G>C (p.Ser1329Thr) c.4043G>C (p.Ser1348Thr) c.4052G>C (p.Ser1351Thr) c.3569G>C (p.Ser1190Thr) c.3299G>C (p.Ser1100Thr) n.3963G>C n.3948G>C n.4864G>C | |
1 | g.5863933C>T | CA338048913 | NPHP4 | c.4097G>A (p.Ser1366Asn) n.3248G>A c.*2998G>A (n.*2998G>A) n.2845G>A n.3829G>A c.*1908G>A (n.*1908G>A) c.2558G>A (p.Ser853Asn) c.2561G>A (p.Ser854Asn) n.4912G>A c.4094G>A (p.Ser1365Asn) c.4055G>A (p.Ser1352Asn) c.3986G>A (p.Ser1329Asn) c.4043G>A (p.Ser1348Asn) c.4052G>A (p.Ser1351Asn) c.3569G>A (p.Ser1190Asn) c.3299G>A (p.Ser1100Asn) n.3963G>A n.3948G>A n.4864G>A | |
1 | g.5863934T>A | CA338048917 | NPHP4 | c.4096A>T (p.Ser1366Cys) n.3247A>T c.*2997A>T (n.*2997A>T) n.2844A>T n.3828A>T c.*1907A>T (n.*1907A>T) c.2557A>T (p.Ser853Cys) c.2560A>T (p.Ser854Cys) n.4911A>T c.4093A>T (p.Ser1365Cys) c.4054A>T (p.Ser1352Cys) c.3985A>T (p.Ser1329Cys) c.4042A>T (p.Ser1348Cys) c.4051A>T (p.Ser1351Cys) c.3568A>T (p.Ser1190Cys) c.3298A>T (p.Ser1100Cys) n.3962A>T n.3947A>T n.4863A>T | COSMIC |
1 | g.5863934T>C | CA338048919 | NPHP4 | c.4096A>G (p.Ser1366Gly) n.3247A>G c.*2997A>G (n.*2997A>G) n.2844A>G n.3828A>G c.*1907A>G (n.*1907A>G) c.2557A>G (p.Ser853Gly) c.2560A>G (p.Ser854Gly) n.4911A>G c.4093A>G (p.Ser1365Gly) c.4054A>G (p.Ser1352Gly) c.3985A>G (p.Ser1329Gly) c.4042A>G (p.Ser1348Gly) c.4051A>G (p.Ser1351Gly) c.3568A>G (p.Ser1190Gly) c.3298A>G (p.Ser1100Gly) n.3962A>G n.3947A>G n.4863A>G | |
1 | g.5863934T>G | CA338048920 | NPHP4 | c.4096A>C (p.Ser1366Arg) n.3247A>C c.*2997A>C (n.*2997A>C) n.2844A>C n.3828A>C c.*1907A>C (n.*1907A>C) c.2557A>C (p.Ser853Arg) c.2560A>C (p.Ser854Arg) n.4911A>C c.4093A>C (p.Ser1365Arg) c.4054A>C (p.Ser1352Arg) c.3985A>C (p.Ser1329Arg) c.4042A>C (p.Ser1348Arg) c.4051A>C (p.Ser1351Arg) c.3568A>C (p.Ser1190Arg) c.3298A>C (p.Ser1100Arg) n.3962A>C n.3947A>C n.4863A>C | |
1 | g.5863935G>A | CA415786978 | NPHP4 | c.4095C>T (p.His1365=) n.3246C>T c.*2996C>T (n.*2996C>T) n.2843C>T n.3827C>T c.*1906C>T (n.*1906C>T) c.2556C>T (p.His852=) c.2559C>T (p.His853=) n.4910C>T c.4092C>T (p.His1364=) c.4053C>T (p.His1351=) c.3984C>T (p.His1328=) c.4041C>T (p.His1347=) c.4050C>T (p.His1350=) c.3567C>T (p.His1189=) c.3297C>T (p.His1099=) n.3961C>T n.3946C>T n.4862C>T | |
1 | g.5863935G>C | CA553356 | NPHP4 | c.4095C>G (p.His1365Gln) n.3246C>G c.*2996C>G (n.*2996C>G) n.2843C>G n.3827C>G c.*1906C>G (n.*1906C>G) c.2556C>G (p.His852Gln) c.2559C>G (p.His853Gln) n.4910C>G c.4092C>G (p.His1364Gln) c.4053C>G (p.His1351Gln) c.3984C>G (p.His1328Gln) c.4041C>G (p.His1347Gln) c.4050C>G (p.His1350Gln) c.3567C>G (p.His1189Gln) c.3297C>G (p.His1099Gln) n.3961C>G n.3946C>G n.4862C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863935G= | CA1151209154 | NPHP4 | c.4095C= (p.His1365=) n.3246C= c.*2996C= (n.*2996C=) n.2843C= n.3827C= c.*1906C= (n.*1906C=) c.2556C= (p.His852=) c.2559C= (p.His853=) n.4910C= c.4092C= (p.His1364=) c.4053C= (p.His1351=) c.3984C= (p.His1328=) c.4041C= (p.His1347=) c.4050C= (p.His1350=) c.3567C= (p.His1189=) c.3297C= (p.His1099=) n.3961C= n.3946C= n.4862C= | |
1 | g.5863935G>T | CA338048922 | NPHP4 | c.4095C>A (p.His1365Gln) n.3246C>A c.*2996C>A (n.*2996C>A) n.2843C>A n.3827C>A c.*1906C>A (n.*1906C>A) c.2556C>A (p.His852Gln) c.2559C>A (p.His853Gln) n.4910C>A c.4092C>A (p.His1364Gln) c.4053C>A (p.His1351Gln) c.3984C>A (p.His1328Gln) c.4041C>A (p.His1347Gln) c.4050C>A (p.His1350Gln) c.3567C>A (p.His1189Gln) c.3297C>A (p.His1099Gln) n.3961C>A n.3946C>A n.4862C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.5863936T>A | CA338048924 | NPHP4 | c.4094A>T (p.His1365Leu) n.3245A>T c.*2995A>T (n.*2995A>T) n.2842A>T n.3826A>T c.*1905A>T (n.*1905A>T) c.2555A>T (p.His852Leu) c.2558A>T (p.His853Leu) n.4909A>T c.4091A>T (p.His1364Leu) c.4052A>T (p.His1351Leu) c.3983A>T (p.His1328Leu) c.4040A>T (p.His1347Leu) c.4049A>T (p.His1350Leu) c.3566A>T (p.His1189Leu) c.3296A>T (p.His1099Leu) n.3960A>T n.3945A>T n.4861A>T | |
1 | g.5863936T>C | CA338048927 | NPHP4 | c.4094A>G (p.His1365Arg) n.3245A>G c.*2995A>G (n.*2995A>G) n.2842A>G n.3826A>G c.*1905A>G (n.*1905A>G) c.2555A>G (p.His852Arg) c.2558A>G (p.His853Arg) n.4909A>G c.4091A>G (p.His1364Arg) c.4052A>G (p.His1351Arg) c.3983A>G (p.His1328Arg) c.4040A>G (p.His1347Arg) c.4049A>G (p.His1350Arg) c.3566A>G (p.His1189Arg) c.3296A>G (p.His1099Arg) n.3960A>G n.3945A>G n.4861A>G | gnomAD v4 |
1 | g.5863936T>G | CA338048925 | NPHP4 | c.4094A>C (p.His1365Pro) n.3245A>C c.*2995A>C (n.*2995A>C) n.2842A>C n.3826A>C c.*1905A>C (n.*1905A>C) c.2555A>C (p.His852Pro) c.2558A>C (p.His853Pro) n.4909A>C c.4091A>C (p.His1364Pro) c.4052A>C (p.His1351Pro) c.3983A>C (p.His1328Pro) c.4040A>C (p.His1347Pro) c.4049A>C (p.His1350Pro) c.3566A>C (p.His1189Pro) c.3296A>C (p.His1099Pro) n.3960A>C n.3945A>C n.4861A>C | |
1 | g.5863937G>A | CA338048928 | NPHP4 | c.4093C>T (p.His1365Tyr) n.3244C>T c.*2994C>T (n.*2994C>T) n.2841C>T n.3825C>T c.*1904C>T (n.*1904C>T) c.2554C>T (p.His852Tyr) c.2557C>T (p.His853Tyr) n.4908C>T c.4090C>T (p.His1364Tyr) c.4051C>T (p.His1351Tyr) c.3982C>T (p.His1328Tyr) c.4039C>T (p.His1347Tyr) c.4048C>T (p.His1350Tyr) c.3565C>T (p.His1189Tyr) c.3295C>T (p.His1099Tyr) n.3959C>T n.3944C>T n.4860C>T | ClinVar dbSNP |
1 | g.5863937G>C | CA338048930 | NPHP4 | c.4093C>G (p.His1365Asp) n.3244C>G c.*2994C>G (n.*2994C>G) n.2841C>G n.3825C>G c.*1904C>G (n.*1904C>G) c.2554C>G (p.His852Asp) c.2557C>G (p.His853Asp) n.4908C>G c.4090C>G (p.His1364Asp) c.4051C>G (p.His1351Asp) c.3982C>G (p.His1328Asp) c.4039C>G (p.His1347Asp) c.4048C>G (p.His1350Asp) c.3565C>G (p.His1189Asp) c.3295C>G (p.His1099Asp) n.3959C>G n.3944C>G n.4860C>G | |
1 | g.5863937G>T | CA338048932 | NPHP4 | c.4093C>A (p.His1365Asn) n.3244C>A c.*2994C>A (n.*2994C>A) n.2841C>A n.3825C>A c.*1904C>A (n.*1904C>A) c.2554C>A (p.His852Asn) c.2557C>A (p.His853Asn) n.4908C>A c.4090C>A (p.His1364Asn) c.4051C>A (p.His1351Asn) c.3982C>A (p.His1328Asn) c.4039C>A (p.His1347Asn) c.4048C>A (p.His1350Asn) c.3565C>A (p.His1189Asn) c.3295C>A (p.His1099Asn) n.3959C>A n.3944C>A n.4860C>A | |
1 | g.5863938C>A | CA415786991 | NPHP4 | c.4092G>T (p.Leu1364=) n.3243G>T c.*2993G>T (n.*2993G>T) n.2840G>T n.3824G>T c.*1903G>T (n.*1903G>T) c.2553G>T (p.Leu851=) c.2556G>T (p.Leu852=) n.4907G>T c.4089G>T (p.Leu1363=) c.4050G>T (p.Leu1350=) c.3981G>T (p.Leu1327=) c.4038G>T (p.Leu1346=) c.4047G>T (p.Leu1349=) c.3564G>T (p.Leu1188=) c.3294G>T (p.Leu1098=) n.3958G>T n.3943G>T n.4859G>T | |
1 | g.5863938C= | CA1144101880 | NPHP4 | c.4092G= (p.Leu1364=) n.3243G= c.*2993G= (n.*2993G=) n.2840G= n.3824G= c.*1903G= (n.*1903G=) c.2553G= (p.Leu851=) c.2556G= (p.Leu852=) n.4907G= c.4089G= (p.Leu1363=) c.4050G= (p.Leu1350=) c.3981G= (p.Leu1327=) c.4038G= (p.Leu1346=) c.4047G= (p.Leu1349=) c.3564G= (p.Leu1188=) c.3294G= (p.Leu1098=) n.3958G= n.3943G= n.4859G= | |
1 | g.5863938C>G | CA415786992 | NPHP4 | c.4092G>C (p.Leu1364=) n.3243G>C c.*2993G>C (n.*2993G>C) n.2840G>C n.3824G>C c.*1903G>C (n.*1903G>C) c.2553G>C (p.Leu851=) c.2556G>C (p.Leu852=) n.4907G>C c.4089G>C (p.Leu1363=) c.4050G>C (p.Leu1350=) c.3981G>C (p.Leu1327=) c.4038G>C (p.Leu1346=) c.4047G>C (p.Leu1349=) c.3564G>C (p.Leu1188=) c.3294G>C (p.Leu1098=) n.3958G>C n.3943G>C n.4859G>C | ClinVar |
1 | g.5863938C>T | CA553357 | NPHP4 | c.4092G>A (p.Leu1364=) n.3243G>A c.*2993G>A (n.*2993G>A) n.2840G>A n.3824G>A c.*1903G>A (n.*1903G>A) c.2553G>A (p.Leu851=) c.2556G>A (p.Leu852=) n.4907G>A c.4089G>A (p.Leu1363=) c.4050G>A (p.Leu1350=) c.3981G>A (p.Leu1327=) c.4038G>A (p.Leu1346=) c.4047G>A (p.Leu1349=) c.3564G>A (p.Leu1188=) c.3294G>A (p.Leu1098=) n.3958G>A n.3943G>A n.4859G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863939A= | CA1151209162 | NPHP4 | c.4091T= (p.Leu1364=) n.3242T= c.*2992T= (n.*2992T=) n.2839T= n.3823T= c.*1902T= (n.*1902T=) c.2552T= (p.Leu851=) c.2555T= (p.Leu852=) n.4906T= c.4088T= (p.Leu1363=) c.4049T= (p.Leu1350=) c.3980T= (p.Leu1327=) c.4037T= (p.Leu1346=) c.4046T= (p.Leu1349=) c.3563T= (p.Leu1188=) c.3293T= (p.Leu1098=) n.3957T= n.3942T= n.4858T= | |
1 | g.5863939A>C | CA338048934 | NPHP4 | c.4091T>G (p.Leu1364Arg) n.3242T>G c.*2992T>G (n.*2992T>G) n.2839T>G n.3823T>G c.*1902T>G (n.*1902T>G) c.2552T>G (p.Leu851Arg) c.2555T>G (p.Leu852Arg) n.4906T>G c.4088T>G (p.Leu1363Arg) c.4049T>G (p.Leu1350Arg) c.3980T>G (p.Leu1327Arg) c.4037T>G (p.Leu1346Arg) c.4046T>G (p.Leu1349Arg) c.3563T>G (p.Leu1188Arg) c.3293T>G (p.Leu1098Arg) n.3957T>G n.3942T>G n.4858T>G | |
1 | g.5863939A>G | CA553358 | NPHP4 | c.4091T>C (p.Leu1364Pro) n.3242T>C c.*2992T>C (n.*2992T>C) n.2839T>C n.3823T>C c.*1902T>C (n.*1902T>C) c.2552T>C (p.Leu851Pro) c.2555T>C (p.Leu852Pro) n.4906T>C c.4088T>C (p.Leu1363Pro) c.4049T>C (p.Leu1350Pro) c.3980T>C (p.Leu1327Pro) c.4037T>C (p.Leu1346Pro) c.4046T>C (p.Leu1349Pro) c.3563T>C (p.Leu1188Pro) c.3293T>C (p.Leu1098Pro) n.3957T>C n.3942T>C n.4858T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863939A>T | CA338048935 | NPHP4 | c.4091T>A (p.Leu1364Gln) n.3242T>A c.*2992T>A (n.*2992T>A) n.2839T>A n.3823T>A c.*1902T>A (n.*1902T>A) c.2552T>A (p.Leu851Gln) c.2555T>A (p.Leu852Gln) n.4906T>A c.4088T>A (p.Leu1363Gln) c.4049T>A (p.Leu1350Gln) c.3980T>A (p.Leu1327Gln) c.4037T>A (p.Leu1346Gln) c.4046T>A (p.Leu1349Gln) c.3563T>A (p.Leu1188Gln) c.3293T>A (p.Leu1098Gln) n.3957T>A n.3942T>A n.4858T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863940G>A | CA415786993 | NPHP4 | c.4090C>T (p.Leu1364=) n.3241C>T c.*2991C>T (n.*2991C>T) n.2838C>T n.3822C>T c.*1901C>T (n.*1901C>T) c.2551C>T (p.Leu851=) c.2554C>T (p.Leu852=) n.4905C>T c.4087C>T (p.Leu1363=) c.4048C>T (p.Leu1350=) c.3979C>T (p.Leu1327=) c.4036C>T (p.Leu1346=) c.4045C>T (p.Leu1349=) c.3562C>T (p.Leu1188=) c.3292C>T (p.Leu1098=) n.3956C>T n.3941C>T n.4857C>T | |
1 | g.5863940G>C | CA338048938 | NPHP4 | c.4090C>G (p.Leu1364Val) n.3241C>G c.*2991C>G (n.*2991C>G) n.2838C>G n.3822C>G c.*1901C>G (n.*1901C>G) c.2551C>G (p.Leu851Val) c.2554C>G (p.Leu852Val) n.4905C>G c.4087C>G (p.Leu1363Val) c.4048C>G (p.Leu1350Val) c.3979C>G (p.Leu1327Val) c.4036C>G (p.Leu1346Val) c.4045C>G (p.Leu1349Val) c.3562C>G (p.Leu1188Val) c.3292C>G (p.Leu1098Val) n.3956C>G n.3941C>G n.4857C>G | |
1 | g.5863940G>T | CA338048939 | NPHP4 | c.4090C>A (p.Leu1364Met) n.3241C>A c.*2991C>A (n.*2991C>A) n.2838C>A n.3822C>A c.*1901C>A (n.*1901C>A) c.2551C>A (p.Leu851Met) c.2554C>A (p.Leu852Met) n.4905C>A c.4087C>A (p.Leu1363Met) c.4048C>A (p.Leu1350Met) c.3979C>A (p.Leu1327Met) c.4036C>A (p.Leu1346Met) c.4045C>A (p.Leu1349Met) c.3562C>A (p.Leu1188Met) c.3292C>A (p.Leu1098Met) n.3956C>A n.3941C>A n.4857C>A | COSMIC |
1 | g.5863941G>A | CA553359 | NPHP4 | c.4089C>T (p.His1363=) n.3240C>T c.*2990C>T (n.*2990C>T) n.2837C>T n.3821C>T c.*1900C>T (n.*1900C>T) c.2550C>T (p.His850=) c.2553C>T (p.His851=) n.4904C>T c.4086C>T (p.His1362=) c.4047C>T (p.His1349=) c.3978C>T (p.His1326=) c.4035C>T (p.His1345=) c.4044C>T (p.His1348=) c.3561C>T (p.His1187=) c.3291C>T (p.His1097=) n.3955C>T n.3940C>T n.4856C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863941G>C | CA338048942 | NPHP4 | c.4089C>G (p.His1363Gln) n.3240C>G c.*2990C>G (n.*2990C>G) n.2837C>G n.3821C>G c.*1900C>G (n.*1900C>G) c.2550C>G (p.His850Gln) c.2553C>G (p.His851Gln) n.4904C>G c.4086C>G (p.His1362Gln) c.4047C>G (p.His1349Gln) c.3978C>G (p.His1326Gln) c.4035C>G (p.His1345Gln) c.4044C>G (p.His1348Gln) c.3561C>G (p.His1187Gln) c.3291C>G (p.His1097Gln) n.3955C>G n.3940C>G n.4856C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863941G= | CA1151209165 | NPHP4 | c.4089C= (p.His1363=) n.3240C= c.*2990C= (n.*2990C=) n.2837C= n.3821C= c.*1900C= (n.*1900C=) c.2550C= (p.His850=) c.2553C= (p.His851=) n.4904C= c.4086C= (p.His1362=) c.4047C= (p.His1349=) c.3978C= (p.His1326=) c.4035C= (p.His1345=) c.4044C= (p.His1348=) c.3561C= (p.His1187=) c.3291C= (p.His1097=) n.3955C= n.3940C= n.4856C= | |
1 | g.5863941G>T | CA338048944 | NPHP4 | c.4089C>A (p.His1363Gln) n.3240C>A c.*2990C>A (n.*2990C>A) n.2837C>A n.3821C>A c.*1900C>A (n.*1900C>A) c.2550C>A (p.His850Gln) c.2553C>A (p.His851Gln) n.4904C>A c.4086C>A (p.His1362Gln) c.4047C>A (p.His1349Gln) c.3978C>A (p.His1326Gln) c.4035C>A (p.His1345Gln) c.4044C>A (p.His1348Gln) c.3561C>A (p.His1187Gln) c.3291C>A (p.His1097Gln) n.3955C>A n.3940C>A n.4856C>A | |
1 | g.5863942T>A | CA338048945 | NPHP4 | c.4088A>T (p.His1363Leu) n.3239A>T c.*2989A>T (n.*2989A>T) n.2836A>T n.3820A>T c.*1899A>T (n.*1899A>T) c.2549A>T (p.His850Leu) c.2552A>T (p.His851Leu) n.4903A>T c.4085A>T (p.His1362Leu) c.4046A>T (p.His1349Leu) c.3977A>T (p.His1326Leu) c.4034A>T (p.His1345Leu) c.4043A>T (p.His1348Leu) c.3560A>T (p.His1187Leu) c.3290A>T (p.His1097Leu) n.3954A>T n.3939A>T n.4855A>T | |
1 | g.5863942T>C | CA553360 | NPHP4 | c.4088A>G (p.His1363Arg) n.3239A>G c.*2989A>G (n.*2989A>G) n.2836A>G n.3820A>G c.*1899A>G (n.*1899A>G) c.2549A>G (p.His850Arg) c.2552A>G (p.His851Arg) n.4903A>G c.4085A>G (p.His1362Arg) c.4046A>G (p.His1349Arg) c.3977A>G (p.His1326Arg) c.4034A>G (p.His1345Arg) c.4043A>G (p.His1348Arg) c.3560A>G (p.His1187Arg) c.3290A>G (p.His1097Arg) n.3954A>G n.3939A>G n.4855A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863942T>G | CA338048949 | NPHP4 | c.4088A>C (p.His1363Pro) n.3239A>C c.*2989A>C (n.*2989A>C) n.2836A>C n.3820A>C c.*1899A>C (n.*1899A>C) c.2549A>C (p.His850Pro) c.2552A>C (p.His851Pro) n.4903A>C c.4085A>C (p.His1362Pro) c.4046A>C (p.His1349Pro) c.3977A>C (p.His1326Pro) c.4034A>C (p.His1345Pro) c.4043A>C (p.His1348Pro) c.3560A>C (p.His1187Pro) c.3290A>C (p.His1097Pro) n.3954A>C n.3939A>C n.4855A>C | dbSNP |
1 | g.5863942T= | CA1147127733 | NPHP4 | c.4088A= (p.His1363=) n.3239A= c.*2989A= (n.*2989A=) n.2836A= n.3820A= c.*1899A= (n.*1899A=) c.2549A= (p.His850=) c.2552A= (p.His851=) n.4903A= c.4085A= (p.His1362=) c.4046A= (p.His1349=) c.3977A= (p.His1326=) c.4034A= (p.His1345=) c.4043A= (p.His1348=) c.3560A= (p.His1187=) c.3290A= (p.His1097=) n.3954A= n.3939A= n.4855A= | |
1 | g.5863943G>A | CA338048951 | NPHP4 | c.4087C>T (p.His1363Tyr) n.3238C>T c.*2988C>T (n.*2988C>T) n.2835C>T n.3819C>T c.*1898C>T (n.*1898C>T) c.2548C>T (p.His850Tyr) c.2551C>T (p.His851Tyr) n.4902C>T c.4084C>T (p.His1362Tyr) c.4045C>T (p.His1349Tyr) c.3976C>T (p.His1326Tyr) c.4033C>T (p.His1345Tyr) c.4042C>T (p.His1348Tyr) c.3559C>T (p.His1187Tyr) c.3289C>T (p.His1097Tyr) n.3953C>T n.3938C>T n.4854C>T | |
1 | g.5863943G>C | CA338048953 | NPHP4 | c.4087C>G (p.His1363Asp) n.3238C>G c.*2988C>G (n.*2988C>G) n.2835C>G n.3819C>G c.*1898C>G (n.*1898C>G) c.2548C>G (p.His850Asp) c.2551C>G (p.His851Asp) n.4902C>G c.4084C>G (p.His1362Asp) c.4045C>G (p.His1349Asp) c.3976C>G (p.His1326Asp) c.4033C>G (p.His1345Asp) c.4042C>G (p.His1348Asp) c.3559C>G (p.His1187Asp) c.3289C>G (p.His1097Asp) n.3953C>G n.3938C>G n.4854C>G | |
1 | g.5863943G>T | CA338048954 | NPHP4 | c.4087C>A (p.His1363Asn) n.3238C>A c.*2988C>A (n.*2988C>A) n.2835C>A n.3819C>A c.*1898C>A (n.*1898C>A) c.2548C>A (p.His850Asn) c.2551C>A (p.His851Asn) n.4902C>A c.4084C>A (p.His1362Asn) c.4045C>A (p.His1349Asn) c.3976C>A (p.His1326Asn) c.4033C>A (p.His1345Asn) c.4042C>A (p.His1348Asn) c.3559C>A (p.His1187Asn) c.3289C>A (p.His1097Asn) n.3953C>A n.3938C>A n.4854C>A | |
1 | g.5863944G>A | CA415786996 | NPHP4 | c.4086C>T (p.Phe1362=) n.3237C>T c.*2987C>T (n.*2987C>T) n.2834C>T n.3818C>T c.*1897C>T (n.*1897C>T) c.2547C>T (p.Phe849=) c.2550C>T (p.Phe850=) n.4901C>T c.4083C>T (p.Phe1361=) c.4044C>T (p.Phe1348=) c.3975C>T (p.Phe1325=) c.4032C>T (p.Phe1344=) c.4041C>T (p.Phe1347=) c.3558C>T (p.Phe1186=) c.3288C>T (p.Phe1096=) n.3952C>T n.3937C>T n.4853C>T | |
1 | g.5863944G>C | CA338048956 | NPHP4 | c.4086C>G (p.Phe1362Leu) n.3237C>G c.*2987C>G (n.*2987C>G) n.2834C>G n.3818C>G c.*1897C>G (n.*1897C>G) c.2547C>G (p.Phe849Leu) c.2550C>G (p.Phe850Leu) n.4901C>G c.4083C>G (p.Phe1361Leu) c.4044C>G (p.Phe1348Leu) c.3975C>G (p.Phe1325Leu) c.4032C>G (p.Phe1344Leu) c.4041C>G (p.Phe1347Leu) c.3558C>G (p.Phe1186Leu) c.3288C>G (p.Phe1096Leu) n.3952C>G n.3937C>G n.4853C>G | |
1 | g.5863944G>T | CA338048958 | NPHP4 | c.4086C>A (p.Phe1362Leu) n.3237C>A c.*2987C>A (n.*2987C>A) n.2834C>A n.3818C>A c.*1897C>A (n.*1897C>A) c.2547C>A (p.Phe849Leu) c.2550C>A (p.Phe850Leu) n.4901C>A c.4083C>A (p.Phe1361Leu) c.4044C>A (p.Phe1348Leu) c.3975C>A (p.Phe1325Leu) c.4032C>A (p.Phe1344Leu) c.4041C>A (p.Phe1347Leu) c.3558C>A (p.Phe1186Leu) c.3288C>A (p.Phe1096Leu) n.3952C>A n.3937C>A n.4853C>A | |
1 | g.5863945A= | CA1151209170 | NPHP4 | c.4085T= (p.Phe1362=) n.3236T= c.*2986T= (n.*2986T=) n.2833T= n.3817T= c.*1896T= (n.*1896T=) c.2546T= (p.Phe849=) c.2549T= (p.Phe850=) n.4900T= c.4082T= (p.Phe1361=) c.4043T= (p.Phe1348=) c.3974T= (p.Phe1325=) c.4031T= (p.Phe1344=) c.4040T= (p.Phe1347=) c.3557T= (p.Phe1186=) c.3287T= (p.Phe1096=) n.3951T= n.3936T= n.4852T= | |
1 | g.5863945A>C | CA338048960 | NPHP4 | c.4085T>G (p.Phe1362Cys) n.3236T>G c.*2986T>G (n.*2986T>G) n.2833T>G n.3817T>G c.*1896T>G (n.*1896T>G) c.2546T>G (p.Phe849Cys) c.2549T>G (p.Phe850Cys) n.4900T>G c.4082T>G (p.Phe1361Cys) c.4043T>G (p.Phe1348Cys) c.3974T>G (p.Phe1325Cys) c.4031T>G (p.Phe1344Cys) c.4040T>G (p.Phe1347Cys) c.3557T>G (p.Phe1186Cys) c.3287T>G (p.Phe1096Cys) n.3951T>G n.3936T>G n.4852T>G | dbSNP |
1 | g.5863945A>G | CA338048961 | NPHP4 | c.4085T>C (p.Phe1362Ser) n.3236T>C c.*2986T>C (n.*2986T>C) n.2833T>C n.3817T>C c.*1896T>C (n.*1896T>C) c.2546T>C (p.Phe849Ser) c.2549T>C (p.Phe850Ser) n.4900T>C c.4082T>C (p.Phe1361Ser) c.4043T>C (p.Phe1348Ser) c.3974T>C (p.Phe1325Ser) c.4031T>C (p.Phe1344Ser) c.4040T>C (p.Phe1347Ser) c.3557T>C (p.Phe1186Ser) c.3287T>C (p.Phe1096Ser) n.3951T>C n.3936T>C n.4852T>C | |
1 | g.5863945A>T | CA338048963 | NPHP4 | c.4085T>A (p.Phe1362Tyr) n.3236T>A c.*2986T>A (n.*2986T>A) n.2833T>A n.3817T>A c.*1896T>A (n.*1896T>A) c.2546T>A (p.Phe849Tyr) c.2549T>A (p.Phe850Tyr) n.4900T>A c.4082T>A (p.Phe1361Tyr) c.4043T>A (p.Phe1348Tyr) c.3974T>A (p.Phe1325Tyr) c.4031T>A (p.Phe1344Tyr) c.4040T>A (p.Phe1347Tyr) c.3557T>A (p.Phe1186Tyr) c.3287T>A (p.Phe1096Tyr) n.3951T>A n.3936T>A n.4852T>A | |
1 | g.5863946A= | CA1151209175 | NPHP4 | c.4084T= (p.Phe1362=) n.3235T= c.*2985T= (n.*2985T=) n.2832T= n.3816T= c.*1895T= (n.*1895T=) c.2545T= (p.Phe849=) c.2548T= (p.Phe850=) n.4899T= c.4081T= (p.Phe1361=) c.4042T= (p.Phe1348=) c.3973T= (p.Phe1325=) c.4030T= (p.Phe1344=) c.4039T= (p.Phe1347=) c.3556T= (p.Phe1186=) c.3286T= (p.Phe1096=) n.3950T= n.3935T= n.4851T= | |
1 | g.5863946A>C | CA338048965 | NPHP4 | c.4084T>G (p.Phe1362Val) n.3235T>G c.*2985T>G (n.*2985T>G) n.2832T>G n.3816T>G c.*1895T>G (n.*1895T>G) c.2545T>G (p.Phe849Val) c.2548T>G (p.Phe850Val) n.4899T>G c.4081T>G (p.Phe1361Val) c.4042T>G (p.Phe1348Val) c.3973T>G (p.Phe1325Val) c.4030T>G (p.Phe1344Val) c.4039T>G (p.Phe1347Val) c.3556T>G (p.Phe1186Val) c.3286T>G (p.Phe1096Val) n.3950T>G n.3935T>G n.4851T>G | |
1 | g.5863946A>G | CA553361 | NPHP4 | c.4084T>C (p.Phe1362Leu) n.3235T>C c.*2985T>C (n.*2985T>C) n.2832T>C n.3816T>C c.*1895T>C (n.*1895T>C) c.2545T>C (p.Phe849Leu) c.2548T>C (p.Phe850Leu) n.4899T>C c.4081T>C (p.Phe1361Leu) c.4042T>C (p.Phe1348Leu) c.3973T>C (p.Phe1325Leu) c.4030T>C (p.Phe1344Leu) c.4039T>C (p.Phe1347Leu) c.3556T>C (p.Phe1186Leu) c.3286T>C (p.Phe1096Leu) n.3950T>C n.3935T>C n.4851T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863946A>T | CA338048968 | NPHP4 | c.4084T>A (p.Phe1362Ile) n.3235T>A c.*2985T>A (n.*2985T>A) n.2832T>A n.3816T>A c.*1895T>A (n.*1895T>A) c.2545T>A (p.Phe849Ile) c.2548T>A (p.Phe850Ile) n.4899T>A c.4081T>A (p.Phe1361Ile) c.4042T>A (p.Phe1348Ile) c.3973T>A (p.Phe1325Ile) c.4030T>A (p.Phe1344Ile) c.4039T>A (p.Phe1347Ile) c.3556T>A (p.Phe1186Ile) c.3286T>A (p.Phe1096Ile) n.3950T>A n.3935T>A n.4851T>A | |
1 | g.5863947T>A | CA415786999 | NPHP4 | c.4083A>T (p.Thr1361=) n.3234A>T c.*2984A>T (n.*2984A>T) n.2831A>T n.3815A>T c.*1894A>T (n.*1894A>T) c.2544A>T (p.Thr848=) c.2547A>T (p.Thr849=) n.4898A>T c.4080A>T (p.Thr1360=) c.4041A>T (p.Thr1347=) c.3972A>T (p.Thr1324=) c.4029A>T (p.Thr1343=) c.4038A>T (p.Thr1346=) c.3555A>T (p.Thr1185=) c.3285A>T (p.Thr1095=) n.3949A>T n.3934A>T n.4850A>T | |
1 | g.5863947T>C | CA415786998 | NPHP4 | c.4083A>G (p.Thr1361=) n.3234A>G c.*2984A>G (n.*2984A>G) n.2831A>G n.3815A>G c.*1894A>G (n.*1894A>G) c.2544A>G (p.Thr848=) c.2547A>G (p.Thr849=) n.4898A>G c.4080A>G (p.Thr1360=) c.4041A>G (p.Thr1347=) c.3972A>G (p.Thr1324=) c.4029A>G (p.Thr1343=) c.4038A>G (p.Thr1346=) c.3555A>G (p.Thr1185=) c.3285A>G (p.Thr1095=) n.3949A>G n.3934A>G n.4850A>G | dbSNP |
1 | g.5863947T>G | CA415786997 | NPHP4 | c.4083A>C (p.Thr1361=) n.3234A>C c.*2984A>C (n.*2984A>C) n.2831A>C n.3815A>C c.*1894A>C (n.*1894A>C) c.2544A>C (p.Thr848=) c.2547A>C (p.Thr849=) n.4898A>C c.4080A>C (p.Thr1360=) c.4041A>C (p.Thr1347=) c.3972A>C (p.Thr1324=) c.4029A>C (p.Thr1343=) c.4038A>C (p.Thr1346=) c.3555A>C (p.Thr1185=) c.3285A>C (p.Thr1095=) n.3949A>C n.3934A>C n.4850A>C | |
1 | g.5863948G>A | CA338048970 | NPHP4 | c.4082C>T (p.Thr1361Ile) n.3233C>T c.*2983C>T (n.*2983C>T) n.2830C>T n.3814C>T c.*1893C>T (n.*1893C>T) c.2543C>T (p.Thr848Ile) c.2546C>T (p.Thr849Ile) n.4897C>T c.4079C>T (p.Thr1360Ile) c.4040C>T (p.Thr1347Ile) c.3971C>T (p.Thr1324Ile) c.4028C>T (p.Thr1343Ile) c.4037C>T (p.Thr1346Ile) c.3554C>T (p.Thr1185Ile) c.3284C>T (p.Thr1095Ile) n.3948C>T n.3933C>T n.4849C>T | |
1 | g.5863948G>C | CA338048971 | NPHP4 | c.4082C>G (p.Thr1361Arg) n.3233C>G c.*2983C>G (n.*2983C>G) n.2830C>G n.3814C>G c.*1893C>G (n.*1893C>G) c.2543C>G (p.Thr848Arg) c.2546C>G (p.Thr849Arg) n.4897C>G c.4079C>G (p.Thr1360Arg) c.4040C>G (p.Thr1347Arg) c.3971C>G (p.Thr1324Arg) c.4028C>G (p.Thr1343Arg) c.4037C>G (p.Thr1346Arg) c.3554C>G (p.Thr1185Arg) c.3284C>G (p.Thr1095Arg) n.3948C>G n.3933C>G n.4849C>G | |
1 | g.5863948G>T | CA338048973 | NPHP4 | c.4082C>A (p.Thr1361Lys) n.3233C>A c.*2983C>A (n.*2983C>A) n.2830C>A n.3814C>A c.*1893C>A (n.*1893C>A) c.2543C>A (p.Thr848Lys) c.2546C>A (p.Thr849Lys) n.4897C>A c.4079C>A (p.Thr1360Lys) c.4040C>A (p.Thr1347Lys) c.3971C>A (p.Thr1324Lys) c.4028C>A (p.Thr1343Lys) c.4037C>A (p.Thr1346Lys) c.3554C>A (p.Thr1185Lys) c.3284C>A (p.Thr1095Lys) n.3948C>A n.3933C>A n.4849C>A | |
1 | g.5863949T>A | CA338048975 | NPHP4 | c.4081A>T (p.Thr1361Ser) n.3232A>T c.*2982A>T (n.*2982A>T) n.2829A>T n.3813A>T c.*1892A>T (n.*1892A>T) c.2542A>T (p.Thr848Ser) c.2545A>T (p.Thr849Ser) n.4896A>T c.4078A>T (p.Thr1360Ser) c.4039A>T (p.Thr1347Ser) c.3970A>T (p.Thr1324Ser) c.4027A>T (p.Thr1343Ser) c.4036A>T (p.Thr1346Ser) c.3553A>T (p.Thr1185Ser) c.3283A>T (p.Thr1095Ser) n.3947A>T n.3932A>T n.4848A>T | |
1 | g.5863949T>C | CA338048977 | NPHP4 | c.4081A>G (p.Thr1361Ala) n.3232A>G c.*2982A>G (n.*2982A>G) n.2829A>G n.3813A>G c.*1892A>G (n.*1892A>G) c.2542A>G (p.Thr848Ala) c.2545A>G (p.Thr849Ala) n.4896A>G c.4078A>G (p.Thr1360Ala) c.4039A>G (p.Thr1347Ala) c.3970A>G (p.Thr1324Ala) c.4027A>G (p.Thr1343Ala) c.4036A>G (p.Thr1346Ala) c.3553A>G (p.Thr1185Ala) c.3283A>G (p.Thr1095Ala) n.3947A>G n.3932A>G n.4848A>G | |
1 | g.5863949T>G | CA338048978 | NPHP4 | c.4081A>C (p.Thr1361Pro) n.3232A>C c.*2982A>C (n.*2982A>C) n.2829A>C n.3813A>C c.*1892A>C (n.*1892A>C) c.2542A>C (p.Thr848Pro) c.2545A>C (p.Thr849Pro) n.4896A>C c.4078A>C (p.Thr1360Pro) c.4039A>C (p.Thr1347Pro) c.3970A>C (p.Thr1324Pro) c.4027A>C (p.Thr1343Pro) c.4036A>C (p.Thr1346Pro) c.3553A>C (p.Thr1185Pro) c.3283A>C (p.Thr1095Pro) n.3947A>C n.3932A>C n.4848A>C | |
1 | g.5863950C>A | CA338048982 | NPHP4 | c.4080G>T (p.Arg1360Ser) n.3231G>T c.*2981G>T (n.*2981G>T) n.2828G>T n.3812G>T c.*1891G>T (n.*1891G>T) c.2541G>T (p.Arg847Ser) c.2544G>T (p.Arg848Ser) n.4895G>T c.4077G>T (p.Arg1359Ser) c.4038G>T (p.Arg1346Ser) c.3969G>T (p.Arg1323Ser) c.4026G>T (p.Arg1342Ser) c.4035G>T (p.Arg1345Ser) c.3552G>T (p.Arg1184Ser) c.3282G>T (p.Arg1094Ser) n.3946G>T n.3931G>T n.4847G>T | |
1 | g.5863950C= | CA1151209178 | NPHP4 | c.4080G= (p.Arg1360=) n.3231G= c.*2981G= (n.*2981G=) n.2828G= n.3812G= c.*1891G= (n.*1891G=) c.2541G= (p.Arg847=) c.2544G= (p.Arg848=) n.4895G= c.4077G= (p.Arg1359=) c.4038G= (p.Arg1346=) c.3969G= (p.Arg1323=) c.4026G= (p.Arg1342=) c.4035G= (p.Arg1345=) c.3552G= (p.Arg1184=) c.3282G= (p.Arg1094=) n.3946G= n.3931G= n.4847G= | |
1 | g.5863950C>G | CA338048983 | NPHP4 | c.4080G>C (p.Arg1360Ser) n.3231G>C c.*2981G>C (n.*2981G>C) n.2828G>C n.3812G>C c.*1891G>C (n.*1891G>C) c.2541G>C (p.Arg847Ser) c.2544G>C (p.Arg848Ser) n.4895G>C c.4077G>C (p.Arg1359Ser) c.4038G>C (p.Arg1346Ser) c.3969G>C (p.Arg1323Ser) c.4026G>C (p.Arg1342Ser) c.4035G>C (p.Arg1345Ser) c.3552G>C (p.Arg1184Ser) c.3282G>C (p.Arg1094Ser) n.3946G>C n.3931G>C n.4847G>C | |
1 | g.5863950C>T | CA553362 | NPHP4 | c.4080G>A (p.Arg1360=) n.3231G>A c.*2981G>A (n.*2981G>A) n.2828G>A n.3812G>A c.*1891G>A (n.*1891G>A) c.2541G>A (p.Arg847=) c.2544G>A (p.Arg848=) n.4895G>A c.4077G>A (p.Arg1359=) c.4038G>A (p.Arg1346=) c.3969G>A (p.Arg1323=) c.4026G>A (p.Arg1342=) c.4035G>A (p.Arg1345=) c.3552G>A (p.Arg1184=) c.3282G>A (p.Arg1094=) n.3946G>A n.3931G>A n.4847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863951C>A | CA338048985 | NPHP4 | c.4079G>T (p.Arg1360Met) n.3230G>T c.*2980G>T (n.*2980G>T) n.2827G>T n.3811G>T c.*1890G>T (n.*1890G>T) c.2540G>T (p.Arg847Met) c.2543G>T (p.Arg848Met) n.4894G>T c.4076G>T (p.Arg1359Met) c.4037G>T (p.Arg1346Met) c.3968G>T (p.Arg1323Met) c.4025G>T (p.Arg1342Met) c.4034G>T (p.Arg1345Met) c.3551G>T (p.Arg1184Met) c.3281G>T (p.Arg1094Met) n.3945G>T n.3930G>T n.4846G>T | |
1 | g.5863951C>G | CA338048987 | NPHP4 | c.4079G>C (p.Arg1360Thr) n.3230G>C c.*2980G>C (n.*2980G>C) n.2827G>C n.3811G>C c.*1890G>C (n.*1890G>C) c.2540G>C (p.Arg847Thr) c.2543G>C (p.Arg848Thr) n.4894G>C c.4076G>C (p.Arg1359Thr) c.4037G>C (p.Arg1346Thr) c.3968G>C (p.Arg1323Thr) c.4025G>C (p.Arg1342Thr) c.4034G>C (p.Arg1345Thr) c.3551G>C (p.Arg1184Thr) c.3281G>C (p.Arg1094Thr) n.3945G>C n.3930G>C n.4846G>C | gnomAD v4 |
1 | g.5863951C>T | CA338048988 | NPHP4 | c.4079G>A (p.Arg1360Lys) n.3230G>A c.*2980G>A (n.*2980G>A) n.2827G>A n.3811G>A c.*1890G>A (n.*1890G>A) c.2540G>A (p.Arg847Lys) c.2543G>A (p.Arg848Lys) n.4894G>A c.4076G>A (p.Arg1359Lys) c.4037G>A (p.Arg1346Lys) c.3968G>A (p.Arg1323Lys) c.4025G>A (p.Arg1342Lys) c.4034G>A (p.Arg1345Lys) c.3551G>A (p.Arg1184Lys) c.3281G>A (p.Arg1094Lys) n.3945G>A n.3930G>A n.4846G>A | |
1 | g.5863952T>A | CA338048990 | NPHP4 | c.4078A>T (p.Arg1360Trp) n.3229A>T c.*2979A>T (n.*2979A>T) n.2826A>T n.3810A>T c.*1889A>T (n.*1889A>T) c.2539A>T (p.Arg847Trp) c.2542A>T (p.Arg848Trp) n.4893A>T c.4075A>T (p.Arg1359Trp) c.4036A>T (p.Arg1346Trp) c.3967A>T (p.Arg1323Trp) c.4024A>T (p.Arg1342Trp) c.4033A>T (p.Arg1345Trp) c.3550A>T (p.Arg1184Trp) c.3280A>T (p.Arg1094Trp) n.3944A>T n.3929A>T n.4845A>T | |
1 | g.5863952T>C | CA338048991 | NPHP4 | c.4078A>G (p.Arg1360Gly) n.3229A>G c.*2979A>G (n.*2979A>G) n.2826A>G n.3810A>G c.*1889A>G (n.*1889A>G) c.2539A>G (p.Arg847Gly) c.2542A>G (p.Arg848Gly) n.4893A>G c.4075A>G (p.Arg1359Gly) c.4036A>G (p.Arg1346Gly) c.3967A>G (p.Arg1323Gly) c.4024A>G (p.Arg1342Gly) c.4033A>G (p.Arg1345Gly) c.3550A>G (p.Arg1184Gly) c.3280A>G (p.Arg1094Gly) n.3944A>G n.3929A>G n.4845A>G | |
1 | g.5863952T>G | CA415787000 | NPHP4 | c.4078A>C (p.Arg1360=) n.3229A>C c.*2979A>C (n.*2979A>C) n.2826A>C n.3810A>C c.*1889A>C (n.*1889A>C) c.2539A>C (p.Arg847=) c.2542A>C (p.Arg848=) n.4893A>C c.4075A>C (p.Arg1359=) c.4036A>C (p.Arg1346=) c.3967A>C (p.Arg1323=) c.4024A>C (p.Arg1342=) c.4033A>C (p.Arg1345=) c.3550A>C (p.Arg1184=) c.3280A>C (p.Arg1094=) n.3944A>C n.3929A>C n.4845A>C | |
1 | g.5863953C>A | CA415787001 | NPHP4 | c.4077G>T (p.Arg1359=) n.3228G>T c.*2978G>T (n.*2978G>T) n.2825G>T n.3809G>T c.*1888G>T (n.*1888G>T) c.2538G>T (p.Arg846=) c.2541G>T (p.Arg847=) n.4892G>T c.4074G>T (p.Arg1358=) c.4035G>T (p.Arg1345=) c.3966G>T (p.Arg1322=) c.4023G>T (p.Arg1341=) c.4032G>T (p.Arg1344=) c.3549G>T (p.Arg1183=) c.3279G>T (p.Arg1093=) n.3943G>T n.3928G>T n.4844G>T | |
1 | g.5863953C>G | CA415787003 | NPHP4 | c.4077G>C (p.Arg1359=) n.3228G>C c.*2978G>C (n.*2978G>C) n.2825G>C n.3809G>C c.*1888G>C (n.*1888G>C) c.2538G>C (p.Arg846=) c.2541G>C (p.Arg847=) n.4892G>C c.4074G>C (p.Arg1358=) c.4035G>C (p.Arg1345=) c.3966G>C (p.Arg1322=) c.4023G>C (p.Arg1341=) c.4032G>C (p.Arg1344=) c.3549G>C (p.Arg1183=) c.3279G>C (p.Arg1093=) n.3943G>C n.3928G>C n.4844G>C | |
1 | g.5863953C>T | CA415787002 | NPHP4 | c.4077G>A (p.Arg1359=) n.3228G>A c.*2978G>A (n.*2978G>A) n.2825G>A n.3809G>A c.*1888G>A (n.*1888G>A) c.2538G>A (p.Arg846=) c.2541G>A (p.Arg847=) n.4892G>A c.4074G>A (p.Arg1358=) c.4035G>A (p.Arg1345=) c.3966G>A (p.Arg1322=) c.4023G>A (p.Arg1341=) c.4032G>A (p.Arg1344=) c.3549G>A (p.Arg1183=) c.3279G>A (p.Arg1093=) n.3943G>A n.3928G>A n.4844G>A | gnomAD v4 |
1 | g.5863954C>A | CA338048996 | NPHP4 | c.4076G>T (p.Arg1359Leu) n.3227G>T c.*2977G>T (n.*2977G>T) n.2824G>T n.3808G>T c.*1887G>T (n.*1887G>T) c.2537G>T (p.Arg846Leu) c.2540G>T (p.Arg847Leu) n.4891G>T c.4073G>T (p.Arg1358Leu) c.4034G>T (p.Arg1345Leu) c.3965G>T (p.Arg1322Leu) c.4022G>T (p.Arg1341Leu) c.4031G>T (p.Arg1344Leu) c.3548G>T (p.Arg1183Leu) c.3278G>T (p.Arg1093Leu) n.3942G>T n.3927G>T n.4843G>T | |
1 | g.5863954C= | CA1151209184 | NPHP4 | c.4076G= (p.Arg1359=) n.3227G= c.*2977G= (n.*2977G=) n.2824G= n.3808G= c.*1887G= (n.*1887G=) c.2537G= (p.Arg846=) c.2540G= (p.Arg847=) n.4891G= c.4073G= (p.Arg1358=) c.4034G= (p.Arg1345=) c.3965G= (p.Arg1322=) c.4022G= (p.Arg1341=) c.4031G= (p.Arg1344=) c.3548G= (p.Arg1183=) c.3278G= (p.Arg1093=) n.3942G= n.3927G= n.4843G= | |
1 | g.5863954C>G | CA338048993 | NPHP4 | c.4076G>C (p.Arg1359Pro) n.3227G>C c.*2977G>C (n.*2977G>C) n.2824G>C n.3808G>C c.*1887G>C (n.*1887G>C) c.2537G>C (p.Arg846Pro) c.2540G>C (p.Arg847Pro) n.4891G>C c.4073G>C (p.Arg1358Pro) c.4034G>C (p.Arg1345Pro) c.3965G>C (p.Arg1322Pro) c.4022G>C (p.Arg1341Pro) c.4031G>C (p.Arg1344Pro) c.3548G>C (p.Arg1183Pro) c.3278G>C (p.Arg1093Pro) n.3942G>C n.3927G>C n.4843G>C | |
1 | g.5863954C>T | CA553363 | NPHP4 | c.4076G>A (p.Arg1359Gln) n.3227G>A c.*2977G>A (n.*2977G>A) n.2824G>A n.3808G>A c.*1887G>A (n.*1887G>A) c.2537G>A (p.Arg846Gln) c.2540G>A (p.Arg847Gln) n.4891G>A c.4073G>A (p.Arg1358Gln) c.4034G>A (p.Arg1345Gln) c.3965G>A (p.Arg1322Gln) c.4022G>A (p.Arg1341Gln) c.4031G>A (p.Arg1344Gln) c.3548G>A (p.Arg1183Gln) c.3278G>A (p.Arg1093Gln) n.3942G>A n.3927G>A n.4843G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863955G>A | CA235731 | NPHP4 | c.4075C>T (p.Arg1359Trp) n.3226C>T c.*2976C>T (n.*2976C>T) n.2823C>T n.3807C>T c.*1886C>T (n.*1886C>T) c.2536C>T (p.Arg846Trp) c.2539C>T (p.Arg847Trp) n.4890C>T c.4072C>T (p.Arg1358Trp) c.4033C>T (p.Arg1345Trp) c.3964C>T (p.Arg1322Trp) c.4021C>T (p.Arg1341Trp) c.4030C>T (p.Arg1344Trp) c.3547C>T (p.Arg1183Trp) c.3277C>T (p.Arg1093Trp) n.3941C>T n.3926C>T n.4842C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.5863955G>C | CA338048999 | NPHP4 | c.4075C>G (p.Arg1359Gly) n.3226C>G c.*2976C>G (n.*2976C>G) n.2823C>G n.3807C>G c.*1886C>G (n.*1886C>G) c.2536C>G (p.Arg846Gly) c.2539C>G (p.Arg847Gly) n.4890C>G c.4072C>G (p.Arg1358Gly) c.4033C>G (p.Arg1345Gly) c.3964C>G (p.Arg1322Gly) c.4021C>G (p.Arg1341Gly) c.4030C>G (p.Arg1344Gly) c.3547C>G (p.Arg1183Gly) c.3277C>G (p.Arg1093Gly) n.3941C>G n.3926C>G n.4842C>G | |
1 | g.5863955G= | CA1143645390 | NPHP4 | c.4075C= (p.Arg1359=) n.3226C= c.*2976C= (n.*2976C=) n.2823C= n.3807C= c.*1886C= (n.*1886C=) c.2536C= (p.Arg846=) c.2539C= (p.Arg847=) n.4890C= c.4072C= (p.Arg1358=) c.4033C= (p.Arg1345=) c.3964C= (p.Arg1322=) c.4021C= (p.Arg1341=) c.4030C= (p.Arg1344=) c.3547C= (p.Arg1183=) c.3277C= (p.Arg1093=) n.3941C= n.3926C= n.4842C= | |
1 | g.5863955G>T | CA415787004 | NPHP4 | c.4075C>A (p.Arg1359=) n.3226C>A c.*2976C>A (n.*2976C>A) n.2823C>A n.3807C>A c.*1886C>A (n.*1886C>A) c.2536C>A (p.Arg846=) c.2539C>A (p.Arg847=) n.4890C>A c.4072C>A (p.Arg1358=) c.4033C>A (p.Arg1345=) c.3964C>A (p.Arg1322=) c.4021C>A (p.Arg1341=) c.4030C>A (p.Arg1344=) c.3547C>A (p.Arg1183=) c.3277C>A (p.Arg1093=) n.3941C>A n.3926C>A n.4842C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863956G>A | CA415787005 | NPHP4 | c.4074C>T (p.Ser1358=) n.3225C>T c.*2975C>T (n.*2975C>T) n.2822C>T n.3806C>T c.*1885C>T (n.*1885C>T) c.2535C>T (p.Ser845=) c.2538C>T (p.Ser846=) n.4889C>T c.4071C>T (p.Ser1357=) c.4032C>T (p.Ser1344=) c.3963C>T (p.Ser1321=) c.4020C>T (p.Ser1340=) c.4029C>T (p.Ser1343=) c.3546C>T (p.Ser1182=) c.3276C>T (p.Ser1092=) n.3940C>T n.3925C>T n.4841C>T | |
1 | g.5863956G>C | CA415787006 | NPHP4 | c.4074C>G (p.Ser1358=) n.3225C>G c.*2975C>G (n.*2975C>G) n.2822C>G n.3806C>G c.*1885C>G (n.*1885C>G) c.2535C>G (p.Ser845=) c.2538C>G (p.Ser846=) n.4889C>G c.4071C>G (p.Ser1357=) c.4032C>G (p.Ser1344=) c.3963C>G (p.Ser1321=) c.4020C>G (p.Ser1340=) c.4029C>G (p.Ser1343=) c.3546C>G (p.Ser1182=) c.3276C>G (p.Ser1092=) n.3940C>G n.3925C>G n.4841C>G | |
1 | g.5863956G>T | CA415787007 | NPHP4 | c.4074C>A (p.Ser1358=) n.3225C>A c.*2975C>A (n.*2975C>A) n.2822C>A n.3806C>A c.*1885C>A (n.*1885C>A) c.2535C>A (p.Ser845=) c.2538C>A (p.Ser846=) n.4889C>A c.4071C>A (p.Ser1357=) c.4032C>A (p.Ser1344=) c.3963C>A (p.Ser1321=) c.4020C>A (p.Ser1340=) c.4029C>A (p.Ser1343=) c.3546C>A (p.Ser1182=) c.3276C>A (p.Ser1092=) n.3940C>A n.3925C>A n.4841C>A | |
1 | g.5863957G>A | CA553364 | NPHP4 | c.4073C>T (p.Ser1358Phe) n.3224C>T c.*2974C>T (n.*2974C>T) n.2821C>T n.3805C>T c.*1884C>T (n.*1884C>T) c.2534C>T (p.Ser845Phe) c.2537C>T (p.Ser846Phe) n.4888C>T c.4070C>T (p.Ser1357Phe) c.4031C>T (p.Ser1344Phe) c.3962C>T (p.Ser1321Phe) c.4019C>T (p.Ser1340Phe) c.4028C>T (p.Ser1343Phe) c.3545C>T (p.Ser1182Phe) c.3275C>T (p.Ser1092Phe) n.3939C>T n.3924C>T n.4840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863957G>C | CA338049001 | NPHP4 | c.4073C>G (p.Ser1358Cys) n.3224C>G c.*2974C>G (n.*2974C>G) n.2821C>G n.3805C>G c.*1884C>G (n.*1884C>G) c.2534C>G (p.Ser845Cys) c.2537C>G (p.Ser846Cys) n.4888C>G c.4070C>G (p.Ser1357Cys) c.4031C>G (p.Ser1344Cys) c.3962C>G (p.Ser1321Cys) c.4019C>G (p.Ser1340Cys) c.4028C>G (p.Ser1343Cys) c.3545C>G (p.Ser1182Cys) c.3275C>G (p.Ser1092Cys) n.3939C>G n.3924C>G n.4840C>G | |
1 | g.5863957G= | CA1151209195 | NPHP4 | c.4073C= (p.Ser1358=) n.3224C= c.*2974C= (n.*2974C=) n.2821C= n.3805C= c.*1884C= (n.*1884C=) c.2534C= (p.Ser845=) c.2537C= (p.Ser846=) n.4888C= c.4070C= (p.Ser1357=) c.4031C= (p.Ser1344=) c.3962C= (p.Ser1321=) c.4019C= (p.Ser1340=) c.4028C= (p.Ser1343=) c.3545C= (p.Ser1182=) c.3275C= (p.Ser1092=) n.3939C= n.3924C= n.4840C= | |
1 | g.5863957G>T | CA338049003 | NPHP4 | c.4073C>A (p.Ser1358Tyr) n.3224C>A c.*2974C>A (n.*2974C>A) n.2821C>A n.3805C>A c.*1884C>A (n.*1884C>A) c.2534C>A (p.Ser845Tyr) c.2537C>A (p.Ser846Tyr) n.4888C>A c.4070C>A (p.Ser1357Tyr) c.4031C>A (p.Ser1344Tyr) c.3962C>A (p.Ser1321Tyr) c.4019C>A (p.Ser1340Tyr) c.4028C>A (p.Ser1343Tyr) c.3545C>A (p.Ser1182Tyr) c.3275C>A (p.Ser1092Tyr) n.3939C>A n.3924C>A n.4840C>A | |
1 | g.5863958A>C | CA338049009 | NPHP4 | c.4072T>G (p.Ser1358Ala) n.3223T>G c.*2973T>G (n.*2973T>G) n.2820T>G n.3804T>G c.*1883T>G (n.*1883T>G) c.2533T>G (p.Ser845Ala) c.2536T>G (p.Ser846Ala) n.4887T>G c.4069T>G (p.Ser1357Ala) c.4030T>G (p.Ser1344Ala) c.3961T>G (p.Ser1321Ala) c.4018T>G (p.Ser1340Ala) c.4027T>G (p.Ser1343Ala) c.3544T>G (p.Ser1182Ala) c.3274T>G (p.Ser1092Ala) n.3938T>G n.3923T>G n.4839T>G | |
1 | g.5863958A>G | CA338049006 | NPHP4 | c.4072T>C (p.Ser1358Pro) n.3223T>C c.*2973T>C (n.*2973T>C) n.2820T>C n.3804T>C c.*1883T>C (n.*1883T>C) c.2533T>C (p.Ser845Pro) c.2536T>C (p.Ser846Pro) n.4887T>C c.4069T>C (p.Ser1357Pro) c.4030T>C (p.Ser1344Pro) c.3961T>C (p.Ser1321Pro) c.4018T>C (p.Ser1340Pro) c.4027T>C (p.Ser1343Pro) c.3544T>C (p.Ser1182Pro) c.3274T>C (p.Ser1092Pro) n.3938T>C n.3923T>C n.4839T>C | |
1 | g.5863958A>T | CA338049005 | NPHP4 | c.4072T>A (p.Ser1358Thr) n.3223T>A c.*2973T>A (n.*2973T>A) n.2820T>A n.3804T>A c.*1883T>A (n.*1883T>A) c.2533T>A (p.Ser845Thr) c.2536T>A (p.Ser846Thr) n.4887T>A c.4069T>A (p.Ser1357Thr) c.4030T>A (p.Ser1344Thr) c.3961T>A (p.Ser1321Thr) c.4018T>A (p.Ser1340Thr) c.4027T>A (p.Ser1343Thr) c.3544T>A (p.Ser1182Thr) c.3274T>A (p.Ser1092Thr) n.3938T>A n.3923T>A n.4839T>A | |
1 | g.5863959G>A | CA415787008 | NPHP4 | c.4071C>T (p.Pro1357=) n.3222C>T c.*2972C>T (n.*2972C>T) n.2819C>T n.3803C>T c.*1882C>T (n.*1882C>T) c.2532C>T (p.Pro844=) c.2535C>T (p.Pro845=) n.4886C>T c.4068C>T (p.Pro1356=) c.4029C>T (p.Pro1343=) c.3960C>T (p.Pro1320=) c.4017C>T (p.Pro1339=) c.4026C>T (p.Pro1342=) c.3543C>T (p.Pro1181=) c.3273C>T (p.Pro1091=) n.3937C>T n.3922C>T n.4838C>T | |
1 | g.5863959G>C | CA415787009 | NPHP4 | c.4071C>G (p.Pro1357=) n.3222C>G c.*2972C>G (n.*2972C>G) n.2819C>G n.3803C>G c.*1882C>G (n.*1882C>G) c.2532C>G (p.Pro844=) c.2535C>G (p.Pro845=) n.4886C>G c.4068C>G (p.Pro1356=) c.4029C>G (p.Pro1343=) c.3960C>G (p.Pro1320=) c.4017C>G (p.Pro1339=) c.4026C>G (p.Pro1342=) c.3543C>G (p.Pro1181=) c.3273C>G (p.Pro1091=) n.3937C>G n.3922C>G n.4838C>G | gnomAD v4 |
1 | g.5863959G>T | CA415787010 | NPHP4 | c.4071C>A (p.Pro1357=) n.3222C>A c.*2972C>A (n.*2972C>A) n.2819C>A n.3803C>A c.*1882C>A (n.*1882C>A) c.2532C>A (p.Pro844=) c.2535C>A (p.Pro845=) n.4886C>A c.4068C>A (p.Pro1356=) c.4029C>A (p.Pro1343=) c.3960C>A (p.Pro1320=) c.4017C>A (p.Pro1339=) c.4026C>A (p.Pro1342=) c.3543C>A (p.Pro1181=) c.3273C>A (p.Pro1091=) n.3937C>A n.3922C>A n.4838C>A | gnomAD v4 |
1 | g.5863960G>A | CA553365 | NPHP4 | c.4070C>T (p.Pro1357Leu) n.3221C>T c.*2971C>T (n.*2971C>T) n.2818C>T n.3802C>T c.*1881C>T (n.*1881C>T) c.2531C>T (p.Pro844Leu) c.2534C>T (p.Pro845Leu) n.4885C>T c.4067C>T (p.Pro1356Leu) c.4028C>T (p.Pro1343Leu) c.3959C>T (p.Pro1320Leu) c.4016C>T (p.Pro1339Leu) c.4025C>T (p.Pro1342Leu) c.3542C>T (p.Pro1181Leu) c.3272C>T (p.Pro1091Leu) n.3936C>T n.3921C>T n.4837C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863960G>C | CA338049014 | NPHP4 | c.4070C>G (p.Pro1357Arg) n.3221C>G c.*2971C>G (n.*2971C>G) n.2818C>G n.3802C>G c.*1881C>G (n.*1881C>G) c.2531C>G (p.Pro844Arg) c.2534C>G (p.Pro845Arg) n.4885C>G c.4067C>G (p.Pro1356Arg) c.4028C>G (p.Pro1343Arg) c.3959C>G (p.Pro1320Arg) c.4016C>G (p.Pro1339Arg) c.4025C>G (p.Pro1342Arg) c.3542C>G (p.Pro1181Arg) c.3272C>G (p.Pro1091Arg) n.3936C>G n.3921C>G n.4837C>G | |
1 | g.5863960G= | CA1151209198 | NPHP4 | c.4070C= (p.Pro1357=) n.3221C= c.*2971C= (n.*2971C=) n.2818C= n.3802C= c.*1881C= (n.*1881C=) c.2531C= (p.Pro844=) c.2534C= (p.Pro845=) n.4885C= c.4067C= (p.Pro1356=) c.4028C= (p.Pro1343=) c.3959C= (p.Pro1320=) c.4016C= (p.Pro1339=) c.4025C= (p.Pro1342=) c.3542C= (p.Pro1181=) c.3272C= (p.Pro1091=) n.3936C= n.3921C= n.4837C= | |
1 | g.5863960G>T | CA338049012 | NPHP4 | c.4070C>A (p.Pro1357His) n.3221C>A c.*2971C>A (n.*2971C>A) n.2818C>A n.3802C>A c.*1881C>A (n.*1881C>A) c.2531C>A (p.Pro844His) c.2534C>A (p.Pro845His) n.4885C>A c.4067C>A (p.Pro1356His) c.4028C>A (p.Pro1343His) c.3959C>A (p.Pro1320His) c.4016C>A (p.Pro1339His) c.4025C>A (p.Pro1342His) c.3542C>A (p.Pro1181His) c.3272C>A (p.Pro1091His) n.3936C>A n.3921C>A n.4837C>A | |
1 | g.5863961G>A | CA338049015 | NPHP4 | c.4069C>T (p.Pro1357Ser) n.3220C>T c.*2970C>T (n.*2970C>T) n.2817C>T n.3801C>T c.*1880C>T (n.*1880C>T) c.2530C>T (p.Pro844Ser) c.2533C>T (p.Pro845Ser) n.4884C>T c.4066C>T (p.Pro1356Ser) c.4027C>T (p.Pro1343Ser) c.3958C>T (p.Pro1320Ser) c.4015C>T (p.Pro1339Ser) c.4024C>T (p.Pro1342Ser) c.3541C>T (p.Pro1181Ser) c.3271C>T (p.Pro1091Ser) n.3935C>T n.3920C>T n.4836C>T | |
1 | g.5863961G>C | CA338049019 | NPHP4 | c.4069C>G (p.Pro1357Ala) n.3220C>G c.*2970C>G (n.*2970C>G) n.2817C>G n.3801C>G c.*1880C>G (n.*1880C>G) c.2530C>G (p.Pro844Ala) c.2533C>G (p.Pro845Ala) n.4884C>G c.4066C>G (p.Pro1356Ala) c.4027C>G (p.Pro1343Ala) c.3958C>G (p.Pro1320Ala) c.4015C>G (p.Pro1339Ala) c.4024C>G (p.Pro1342Ala) c.3541C>G (p.Pro1181Ala) c.3271C>G (p.Pro1091Ala) n.3935C>G n.3920C>G n.4836C>G | gnomAD v4 |
1 | g.5863961G= | CA1151209200 | NPHP4 | c.4069C= (p.Pro1357=) n.3220C= c.*2970C= (n.*2970C=) n.2817C= n.3801C= c.*1880C= (n.*1880C=) c.2530C= (p.Pro844=) c.2533C= (p.Pro845=) n.4884C= c.4066C= (p.Pro1356=) c.4027C= (p.Pro1343=) c.3958C= (p.Pro1320=) c.4015C= (p.Pro1339=) c.4024C= (p.Pro1342=) c.3541C= (p.Pro1181=) c.3271C= (p.Pro1091=) n.3935C= n.3920C= n.4836C= | |
1 | g.5863961G>T | CA338049017 | NPHP4 | c.4069C>A (p.Pro1357Thr) n.3220C>A c.*2970C>A (n.*2970C>A) n.2817C>A n.3801C>A c.*1880C>A (n.*1880C>A) c.2530C>A (p.Pro844Thr) c.2533C>A (p.Pro845Thr) n.4884C>A c.4066C>A (p.Pro1356Thr) c.4027C>A (p.Pro1343Thr) c.3958C>A (p.Pro1320Thr) c.4015C>A (p.Pro1339Thr) c.4024C>A (p.Pro1342Thr) c.3541C>A (p.Pro1181Thr) c.3271C>A (p.Pro1091Thr) n.3935C>A n.3920C>A n.4836C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863962G>A | CA415787011 | NPHP4 | c.4068C>T (p.Tyr1356=) n.3219C>T c.*2969C>T (n.*2969C>T) n.2816C>T n.3800C>T c.*1879C>T (n.*1879C>T) c.2529C>T (p.Tyr843=) c.2532C>T (p.Tyr844=) n.4883C>T c.4065C>T (p.Tyr1355=) c.4026C>T (p.Tyr1342=) c.3957C>T (p.Tyr1319=) c.4014C>T (p.Tyr1338=) c.4023C>T (p.Tyr1341=) c.3540C>T (p.Tyr1180=) c.3270C>T (p.Tyr1090=) n.3934C>T n.3919C>T n.4835C>T | |
1 | g.5863962G>C | CA338049021 | NPHP4 | c.4068C>G (p.Tyr1356Ter) n.3219C>G c.*2969C>G (n.*2969C>G) n.2816C>G n.3800C>G c.*1879C>G (n.*1879C>G) c.2529C>G (p.Tyr843Ter) c.2532C>G (p.Tyr844Ter) n.4883C>G c.4065C>G (p.Tyr1355Ter) c.4026C>G (p.Tyr1342Ter) c.3957C>G (p.Tyr1319Ter) c.4014C>G (p.Tyr1338Ter) c.4023C>G (p.Tyr1341Ter) c.3540C>G (p.Tyr1180Ter) c.3270C>G (p.Tyr1090Ter) n.3934C>G n.3919C>G n.4835C>G | |
1 | g.5863962G>T | CA338049023 | NPHP4 | c.4068C>A (p.Tyr1356Ter) n.3219C>A c.*2969C>A (n.*2969C>A) n.2816C>A n.3800C>A c.*1879C>A (n.*1879C>A) c.2529C>A (p.Tyr843Ter) c.2532C>A (p.Tyr844Ter) n.4883C>A c.4065C>A (p.Tyr1355Ter) c.4026C>A (p.Tyr1342Ter) c.3957C>A (p.Tyr1319Ter) c.4014C>A (p.Tyr1338Ter) c.4023C>A (p.Tyr1341Ter) c.3540C>A (p.Tyr1180Ter) c.3270C>A (p.Tyr1090Ter) n.3934C>A n.3919C>A n.4835C>A | |
1 | g.5863963T>A | CA338049026 | NPHP4 | c.4067A>T (p.Tyr1356Phe) n.3218A>T c.*2968A>T (n.*2968A>T) n.2815A>T n.3799A>T c.*1878A>T (n.*1878A>T) c.2528A>T (p.Tyr843Phe) c.2531A>T (p.Tyr844Phe) n.4882A>T c.4064A>T (p.Tyr1355Phe) c.4025A>T (p.Tyr1342Phe) c.3956A>T (p.Tyr1319Phe) c.4013A>T (p.Tyr1338Phe) c.4022A>T (p.Tyr1341Phe) c.3539A>T (p.Tyr1180Phe) c.3269A>T (p.Tyr1090Phe) n.3933A>T n.3918A>T n.4834A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863963T>C | CA553367 | NPHP4 | c.4067A>G (p.Tyr1356Cys) n.3218A>G c.*2968A>G (n.*2968A>G) n.2815A>G n.3799A>G c.*1878A>G (n.*1878A>G) c.2528A>G (p.Tyr843Cys) c.2531A>G (p.Tyr844Cys) n.4882A>G c.4064A>G (p.Tyr1355Cys) c.4025A>G (p.Tyr1342Cys) c.3956A>G (p.Tyr1319Cys) c.4013A>G (p.Tyr1338Cys) c.4022A>G (p.Tyr1341Cys) c.3539A>G (p.Tyr1180Cys) c.3269A>G (p.Tyr1090Cys) n.3933A>G n.3918A>G n.4834A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863963T>G | CA553366 | NPHP4 | c.4067A>C (p.Tyr1356Ser) n.3218A>C c.*2968A>C (n.*2968A>C) n.2815A>C n.3799A>C c.*1878A>C (n.*1878A>C) c.2528A>C (p.Tyr843Ser) c.2531A>C (p.Tyr844Ser) n.4882A>C c.4064A>C (p.Tyr1355Ser) c.4025A>C (p.Tyr1342Ser) c.3956A>C (p.Tyr1319Ser) c.4013A>C (p.Tyr1338Ser) c.4022A>C (p.Tyr1341Ser) c.3539A>C (p.Tyr1180Ser) c.3269A>C (p.Tyr1090Ser) n.3933A>C n.3918A>C n.4834A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863963T= | CA1148433686 | NPHP4 | c.4067A= (p.Tyr1356=) n.3218A= c.*2968A= (n.*2968A=) n.2815A= n.3799A= c.*1878A= (n.*1878A=) c.2528A= (p.Tyr843=) c.2531A= (p.Tyr844=) n.4882A= c.4064A= (p.Tyr1355=) c.4025A= (p.Tyr1342=) c.3956A= (p.Tyr1319=) c.4013A= (p.Tyr1338=) c.4022A= (p.Tyr1341=) c.3539A= (p.Tyr1180=) c.3269A= (p.Tyr1090=) n.3933A= n.3918A= n.4834A= | |
1 | g.5863964A>C | CA338049029 | NPHP4 | c.4066T>G (p.Tyr1356Asp) n.3217T>G c.*2967T>G (n.*2967T>G) n.2814T>G n.3798T>G c.*1877T>G (n.*1877T>G) c.2527T>G (p.Tyr843Asp) c.2530T>G (p.Tyr844Asp) n.4881T>G c.4063T>G (p.Tyr1355Asp) c.4024T>G (p.Tyr1342Asp) c.3955T>G (p.Tyr1319Asp) c.4012T>G (p.Tyr1338Asp) c.4021T>G (p.Tyr1341Asp) c.3538T>G (p.Tyr1180Asp) c.3268T>G (p.Tyr1090Asp) n.3932T>G n.3917T>G n.4833T>G | |
1 | g.5863964A>G | CA338049031 | NPHP4 | c.4066T>C (p.Tyr1356His) n.3217T>C c.*2967T>C (n.*2967T>C) n.2814T>C n.3798T>C c.*1877T>C (n.*1877T>C) c.2527T>C (p.Tyr843His) c.2530T>C (p.Tyr844His) n.4881T>C c.4063T>C (p.Tyr1355His) c.4024T>C (p.Tyr1342His) c.3955T>C (p.Tyr1319His) c.4012T>C (p.Tyr1338His) c.4021T>C (p.Tyr1341His) c.3538T>C (p.Tyr1180His) c.3268T>C (p.Tyr1090His) n.3932T>C n.3917T>C n.4833T>C | |
1 | g.5863964A>T | CA338049032 | NPHP4 | c.4066T>A (p.Tyr1356Asn) n.3217T>A c.*2967T>A (n.*2967T>A) n.2814T>A n.3798T>A c.*1877T>A (n.*1877T>A) c.2527T>A (p.Tyr843Asn) c.2530T>A (p.Tyr844Asn) n.4881T>A c.4063T>A (p.Tyr1355Asn) c.4024T>A (p.Tyr1342Asn) c.3955T>A (p.Tyr1319Asn) c.4012T>A (p.Tyr1338Asn) c.4021T>A (p.Tyr1341Asn) c.3538T>A (p.Tyr1180Asn) c.3268T>A (p.Tyr1090Asn) n.3932T>A n.3917T>A n.4833T>A | |
1 | g.5863965G>A | CA415787013 | NPHP4 | c.4065C>T (p.Pro1355=) n.3216C>T c.*2966C>T (n.*2966C>T) n.2813C>T n.3797C>T c.*1876C>T (n.*1876C>T) c.2526C>T (p.Pro842=) c.2529C>T (p.Pro843=) n.4880C>T c.4062C>T (p.Pro1354=) c.4023C>T (p.Pro1341=) c.3954C>T (p.Pro1318=) c.4011C>T (p.Pro1337=) c.4020C>T (p.Pro1340=) c.3537C>T (p.Pro1179=) c.3267C>T (p.Pro1089=) n.3931C>T n.3916C>T n.4832C>T | ClinVar dbSNP |
1 | g.5863965G>C | CA415787014 | NPHP4 | c.4065C>G (p.Pro1355=) n.3216C>G c.*2966C>G (n.*2966C>G) n.2813C>G n.3797C>G c.*1876C>G (n.*1876C>G) c.2526C>G (p.Pro842=) c.2529C>G (p.Pro843=) n.4880C>G c.4062C>G (p.Pro1354=) c.4023C>G (p.Pro1341=) c.3954C>G (p.Pro1318=) c.4011C>G (p.Pro1337=) c.4020C>G (p.Pro1340=) c.3537C>G (p.Pro1179=) c.3267C>G (p.Pro1089=) n.3931C>G n.3916C>G n.4832C>G | |
1 | g.5863965G>T | CA415787015 | NPHP4 | c.4065C>A (p.Pro1355=) n.3216C>A c.*2966C>A (n.*2966C>A) n.2813C>A n.3797C>A c.*1876C>A (n.*1876C>A) c.2526C>A (p.Pro842=) c.2529C>A (p.Pro843=) n.4880C>A c.4062C>A (p.Pro1354=) c.4023C>A (p.Pro1341=) c.3954C>A (p.Pro1318=) c.4011C>A (p.Pro1337=) c.4020C>A (p.Pro1340=) c.3537C>A (p.Pro1179=) c.3267C>A (p.Pro1089=) n.3931C>A n.3916C>A n.4832C>A | |
1 | g.5863968del | CA2580062649 | NPHP4 | c.4065del (p.Tyr1356ThrfsTer?) n.3216del c.*2966del (n.*2966del) n.2813del n.3797del c.*1876del (n.*1876del) c.2526del (p.Tyr843ThrfsTer?) c.2529del (p.Tyr844ThrfsTer?) n.4880del c.4062del (p.Tyr1355ThrfsTer?) c.4023del (p.Tyr1342ThrfsTer?) c.3954del (p.Tyr1319ThrfsTer?) c.4011del (p.Tyr1338ThrfsTer?) c.4020del (p.Tyr1341ThrfsTer?) c.3537del (p.Tyr1180ThrfsTer?) c.3267del (p.Tyr1090ThrfsTer?) n.3931del n.3916del n.4832del | ClinVar |
1 | g.5863966G>A | CA338049033 | NPHP4 | c.4064C>T (p.Pro1355Leu) n.3215C>T c.*2965C>T (n.*2965C>T) n.2812C>T n.3796C>T c.*1875C>T (n.*1875C>T) c.2525C>T (p.Pro842Leu) c.2528C>T (p.Pro843Leu) n.4879C>T c.4061C>T (p.Pro1354Leu) c.4022C>T (p.Pro1341Leu) c.3953C>T (p.Pro1318Leu) c.4010C>T (p.Pro1337Leu) c.4019C>T (p.Pro1340Leu) c.3536C>T (p.Pro1179Leu) c.3266C>T (p.Pro1089Leu) n.3930C>T n.3915C>T n.4831C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863966G>C | CA338049034 | NPHP4 | c.4064C>G (p.Pro1355Arg) n.3215C>G c.*2965C>G (n.*2965C>G) n.2812C>G n.3796C>G c.*1875C>G (n.*1875C>G) c.2525C>G (p.Pro842Arg) c.2528C>G (p.Pro843Arg) n.4879C>G c.4061C>G (p.Pro1354Arg) c.4022C>G (p.Pro1341Arg) c.3953C>G (p.Pro1318Arg) c.4010C>G (p.Pro1337Arg) c.4019C>G (p.Pro1340Arg) c.3536C>G (p.Pro1179Arg) c.3266C>G (p.Pro1089Arg) n.3930C>G n.3915C>G n.4831C>G | |
1 | g.5863966G= | CA1151209205 | NPHP4 | c.4064C= (p.Pro1355=) n.3215C= c.*2965C= (n.*2965C=) n.2812C= n.3796C= c.*1875C= (n.*1875C=) c.2525C= (p.Pro842=) c.2528C= (p.Pro843=) n.4879C= c.4061C= (p.Pro1354=) c.4022C= (p.Pro1341=) c.3953C= (p.Pro1318=) c.4010C= (p.Pro1337=) c.4019C= (p.Pro1340=) c.3536C= (p.Pro1179=) c.3266C= (p.Pro1089=) n.3930C= n.3915C= n.4831C= | |
1 | g.5863966G>T | CA338049036 | NPHP4 | c.4064C>A (p.Pro1355His) n.3215C>A c.*2965C>A (n.*2965C>A) n.2812C>A n.3796C>A c.*1875C>A (n.*1875C>A) c.2525C>A (p.Pro842His) c.2528C>A (p.Pro843His) n.4879C>A c.4061C>A (p.Pro1354His) c.4022C>A (p.Pro1341His) c.3953C>A (p.Pro1318His) c.4010C>A (p.Pro1337His) c.4019C>A (p.Pro1340His) c.3536C>A (p.Pro1179His) c.3266C>A (p.Pro1089His) n.3930C>A n.3915C>A n.4831C>A | |
1 | g.5863967G>A | CA338049038 | NPHP4 | c.4063C>T (p.Pro1355Ser) n.3214C>T c.*2964C>T (n.*2964C>T) n.2811C>T n.3795C>T c.*1874C>T (n.*1874C>T) c.2524C>T (p.Pro842Ser) c.2527C>T (p.Pro843Ser) n.4878C>T c.4060C>T (p.Pro1354Ser) c.4021C>T (p.Pro1341Ser) c.3952C>T (p.Pro1318Ser) c.4009C>T (p.Pro1337Ser) c.4018C>T (p.Pro1340Ser) c.3535C>T (p.Pro1179Ser) c.3265C>T (p.Pro1089Ser) n.3929C>T n.3914C>T n.4830C>T | dbSNP gnomAD v4 |
1 | g.5863967G>C | CA338049039 | NPHP4 | c.4063C>G (p.Pro1355Ala) n.3214C>G c.*2964C>G (n.*2964C>G) n.2811C>G n.3795C>G c.*1874C>G (n.*1874C>G) c.2524C>G (p.Pro842Ala) c.2527C>G (p.Pro843Ala) n.4878C>G c.4060C>G (p.Pro1354Ala) c.4021C>G (p.Pro1341Ala) c.3952C>G (p.Pro1318Ala) c.4009C>G (p.Pro1337Ala) c.4018C>G (p.Pro1340Ala) c.3535C>G (p.Pro1179Ala) c.3265C>G (p.Pro1089Ala) n.3929C>G n.3914C>G n.4830C>G | gnomAD v4 |
1 | g.5863967G= | CA1151209209 | NPHP4 | c.4063C= (p.Pro1355=) n.3214C= c.*2964C= (n.*2964C=) n.2811C= n.3795C= c.*1874C= (n.*1874C=) c.2524C= (p.Pro842=) c.2527C= (p.Pro843=) n.4878C= c.4060C= (p.Pro1354=) c.4021C= (p.Pro1341=) c.3952C= (p.Pro1318=) c.4009C= (p.Pro1337=) c.4018C= (p.Pro1340=) c.3535C= (p.Pro1179=) c.3265C= (p.Pro1089=) n.3929C= n.3914C= n.4830C= | |
1 | g.5863967G>T | CA338049041 | NPHP4 | c.4063C>A (p.Pro1355Thr) n.3214C>A c.*2964C>A (n.*2964C>A) n.2811C>A n.3795C>A c.*1874C>A (n.*1874C>A) c.2524C>A (p.Pro842Thr) c.2527C>A (p.Pro843Thr) n.4878C>A c.4060C>A (p.Pro1354Thr) c.4021C>A (p.Pro1341Thr) c.3952C>A (p.Pro1318Thr) c.4009C>A (p.Pro1337Thr) c.4018C>A (p.Pro1340Thr) c.3535C>A (p.Pro1179Thr) c.3265C>A (p.Pro1089Thr) n.3929C>A n.3914C>A n.4830C>A | |
1 | g.5863968G>A | CA415787017 | NPHP4 | c.4062C>T (p.Asn1354=) n.3213C>T c.*2963C>T (n.*2963C>T) n.2810C>T n.3794C>T c.*1873C>T (n.*1873C>T) c.2523C>T (p.Asn841=) c.2526C>T (p.Asn842=) n.4877C>T c.4059C>T (p.Asn1353=) c.4020C>T (p.Asn1340=) c.3951C>T (p.Asn1317=) c.4008C>T (p.Asn1336=) c.4017C>T (p.Asn1339=) c.3534C>T (p.Asn1178=) c.3264C>T (p.Asn1088=) n.3928C>T n.3913C>T n.4829C>T | ClinVar gnomAD v4 |
1 | g.5863968G>C | CA338049045 | NPHP4 | c.4062C>G (p.Asn1354Lys) n.3213C>G c.*2963C>G (n.*2963C>G) n.2810C>G n.3794C>G c.*1873C>G (n.*1873C>G) c.2523C>G (p.Asn841Lys) c.2526C>G (p.Asn842Lys) n.4877C>G c.4059C>G (p.Asn1353Lys) c.4020C>G (p.Asn1340Lys) c.3951C>G (p.Asn1317Lys) c.4008C>G (p.Asn1336Lys) c.4017C>G (p.Asn1339Lys) c.3534C>G (p.Asn1178Lys) c.3264C>G (p.Asn1088Lys) n.3928C>G n.3913C>G n.4829C>G | |
1 | g.5863968G>T | CA338049043 | NPHP4 | c.4062C>A (p.Asn1354Lys) n.3213C>A c.*2963C>A (n.*2963C>A) n.2810C>A n.3794C>A c.*1873C>A (n.*1873C>A) c.2523C>A (p.Asn841Lys) c.2526C>A (p.Asn842Lys) n.4877C>A c.4059C>A (p.Asn1353Lys) c.4020C>A (p.Asn1340Lys) c.3951C>A (p.Asn1317Lys) c.4008C>A (p.Asn1336Lys) c.4017C>A (p.Asn1339Lys) c.3534C>A (p.Asn1178Lys) c.3264C>A (p.Asn1088Lys) n.3928C>A n.3913C>A n.4829C>A | |
1 | g.5863969T>A | CA338049047 | NPHP4 | c.4061A>T (p.Asn1354Ile) n.3212A>T c.*2962A>T (n.*2962A>T) n.2809A>T n.3793A>T c.*1872A>T (n.*1872A>T) c.2522A>T (p.Asn841Ile) c.2525A>T (p.Asn842Ile) n.4876A>T c.4058A>T (p.Asn1353Ile) c.4019A>T (p.Asn1340Ile) c.3950A>T (p.Asn1317Ile) c.4007A>T (p.Asn1336Ile) c.4016A>T (p.Asn1339Ile) c.3533A>T (p.Asn1178Ile) c.3263A>T (p.Asn1088Ile) n.3927A>T n.3912A>T n.4828A>T | |
1 | g.5863969T>C | CA338049048 | NPHP4 | c.4061A>G (p.Asn1354Ser) n.3212A>G c.*2962A>G (n.*2962A>G) n.2809A>G n.3793A>G c.*1872A>G (n.*1872A>G) c.2522A>G (p.Asn841Ser) c.2525A>G (p.Asn842Ser) n.4876A>G c.4058A>G (p.Asn1353Ser) c.4019A>G (p.Asn1340Ser) c.3950A>G (p.Asn1317Ser) c.4007A>G (p.Asn1336Ser) c.4016A>G (p.Asn1339Ser) c.3533A>G (p.Asn1178Ser) c.3263A>G (p.Asn1088Ser) n.3927A>G n.3912A>G n.4828A>G | |
1 | g.5863969T>G | CA338049050 | NPHP4 | c.4061A>C (p.Asn1354Thr) n.3212A>C c.*2962A>C (n.*2962A>C) n.2809A>C n.3793A>C c.*1872A>C (n.*1872A>C) c.2522A>C (p.Asn841Thr) c.2525A>C (p.Asn842Thr) n.4876A>C c.4058A>C (p.Asn1353Thr) c.4019A>C (p.Asn1340Thr) c.3950A>C (p.Asn1317Thr) c.4007A>C (p.Asn1336Thr) c.4016A>C (p.Asn1339Thr) c.3533A>C (p.Asn1178Thr) c.3263A>C (p.Asn1088Thr) n.3927A>C n.3912A>C n.4828A>C | gnomAD v4 |
1 | g.5863970T>A | CA338049052 | NPHP4 | c.4060A>T (p.Asn1354Tyr) n.3211A>T c.*2961A>T (n.*2961A>T) n.2808A>T n.3792A>T c.*1871A>T (n.*1871A>T) c.2521A>T (p.Asn841Tyr) c.2524A>T (p.Asn842Tyr) n.4875A>T c.4057A>T (p.Asn1353Tyr) c.4018A>T (p.Asn1340Tyr) c.3949A>T (p.Asn1317Tyr) c.4006A>T (p.Asn1336Tyr) c.4015A>T (p.Asn1339Tyr) c.3532A>T (p.Asn1178Tyr) c.3262A>T (p.Asn1088Tyr) n.3926A>T n.3911A>T n.4827A>T | |
1 | g.5863970T>C | CA338049054 | NPHP4 | c.4060A>G (p.Asn1354Asp) n.3211A>G c.*2961A>G (n.*2961A>G) n.2808A>G n.3792A>G c.*1871A>G (n.*1871A>G) c.2521A>G (p.Asn841Asp) c.2524A>G (p.Asn842Asp) n.4875A>G c.4057A>G (p.Asn1353Asp) c.4018A>G (p.Asn1340Asp) c.3949A>G (p.Asn1317Asp) c.4006A>G (p.Asn1336Asp) c.4015A>G (p.Asn1339Asp) c.3532A>G (p.Asn1178Asp) c.3262A>G (p.Asn1088Asp) n.3926A>G n.3911A>G n.4827A>G | |
1 | g.5863970T>G | CA338049055 | NPHP4 | c.4060A>C (p.Asn1354His) n.3211A>C c.*2961A>C (n.*2961A>C) n.2808A>C n.3792A>C c.*1871A>C (n.*1871A>C) c.2521A>C (p.Asn841His) c.2524A>C (p.Asn842His) n.4875A>C c.4057A>C (p.Asn1353His) c.4018A>C (p.Asn1340His) c.3949A>C (p.Asn1317His) c.4006A>C (p.Asn1336His) c.4015A>C (p.Asn1339His) c.3532A>C (p.Asn1178His) c.3262A>C (p.Asn1088His) n.3926A>C n.3911A>C n.4827A>C | |
1 | g.5863971G>A | CA415787018 | NPHP4 | c.4059C>T (p.Thr1353=) n.3210C>T c.*2960C>T (n.*2960C>T) n.2807C>T n.3791C>T c.*1870C>T (n.*1870C>T) c.2520C>T (p.Thr840=) c.2523C>T (p.Thr841=) n.4874C>T c.4056C>T (p.Thr1352=) c.4017C>T (p.Thr1339=) c.3948C>T (p.Thr1316=) c.4005C>T (p.Thr1335=) c.4014C>T (p.Thr1338=) c.3531C>T (p.Thr1177=) c.3261C>T (p.Thr1087=) n.3925C>T n.3910C>T n.4826C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863971G>C | CA415787019 | NPHP4 | c.4059C>G (p.Thr1353=) n.3210C>G c.*2960C>G (n.*2960C>G) n.2807C>G n.3791C>G c.*1870C>G (n.*1870C>G) c.2520C>G (p.Thr840=) c.2523C>G (p.Thr841=) n.4874C>G c.4056C>G (p.Thr1352=) c.4017C>G (p.Thr1339=) c.3948C>G (p.Thr1316=) c.4005C>G (p.Thr1335=) c.4014C>G (p.Thr1338=) c.3531C>G (p.Thr1177=) c.3261C>G (p.Thr1087=) n.3925C>G n.3910C>G n.4826C>G | |
1 | g.5863971G= | CA1151209212 | NPHP4 | c.4059C= (p.Thr1353=) n.3210C= c.*2960C= (n.*2960C=) n.2807C= n.3791C= c.*1870C= (n.*1870C=) c.2520C= (p.Thr840=) c.2523C= (p.Thr841=) n.4874C= c.4056C= (p.Thr1352=) c.4017C= (p.Thr1339=) c.3948C= (p.Thr1316=) c.4005C= (p.Thr1335=) c.4014C= (p.Thr1338=) c.3531C= (p.Thr1177=) c.3261C= (p.Thr1087=) n.3925C= n.3910C= n.4826C= | |
1 | g.5863971G>T | CA415787020 | NPHP4 | c.4059C>A (p.Thr1353=) n.3210C>A c.*2960C>A (n.*2960C>A) n.2807C>A n.3791C>A c.*1870C>A (n.*1870C>A) c.2520C>A (p.Thr840=) c.2523C>A (p.Thr841=) n.4874C>A c.4056C>A (p.Thr1352=) c.4017C>A (p.Thr1339=) c.3948C>A (p.Thr1316=) c.4005C>A (p.Thr1335=) c.4014C>A (p.Thr1338=) c.3531C>A (p.Thr1177=) c.3261C>A (p.Thr1087=) n.3925C>A n.3910C>A n.4826C>A | |
1 | g.5863972G>A | CA338049057 | NPHP4 | c.4058C>T (p.Thr1353Ile) n.3209C>T c.*2959C>T (n.*2959C>T) n.2806C>T n.3790C>T c.*1869C>T (n.*1869C>T) c.2519C>T (p.Thr840Ile) c.2522C>T (p.Thr841Ile) n.4873C>T c.4055C>T (p.Thr1352Ile) c.4016C>T (p.Thr1339Ile) c.3947C>T (p.Thr1316Ile) c.4004C>T (p.Thr1335Ile) c.4013C>T (p.Thr1338Ile) c.3530C>T (p.Thr1177Ile) c.3260C>T (p.Thr1087Ile) n.3924C>T n.3909C>T n.4825C>T | |
1 | g.5863972G>C | CA338049059 | NPHP4 | c.4058C>G (p.Thr1353Ser) n.3209C>G c.*2959C>G (n.*2959C>G) n.2806C>G n.3790C>G c.*1869C>G (n.*1869C>G) c.2519C>G (p.Thr840Ser) c.2522C>G (p.Thr841Ser) n.4873C>G c.4055C>G (p.Thr1352Ser) c.4016C>G (p.Thr1339Ser) c.3947C>G (p.Thr1316Ser) c.4004C>G (p.Thr1335Ser) c.4013C>G (p.Thr1338Ser) c.3530C>G (p.Thr1177Ser) c.3260C>G (p.Thr1087Ser) n.3924C>G n.3909C>G n.4825C>G | |
1 | g.5863972G>T | CA338049063 | NPHP4 | c.4058C>A (p.Thr1353Asn) n.3209C>A c.*2959C>A (n.*2959C>A) n.2806C>A n.3790C>A c.*1869C>A (n.*1869C>A) c.2519C>A (p.Thr840Asn) c.2522C>A (p.Thr841Asn) n.4873C>A c.4055C>A (p.Thr1352Asn) c.4016C>A (p.Thr1339Asn) c.3947C>A (p.Thr1316Asn) c.4004C>A (p.Thr1335Asn) c.4013C>A (p.Thr1338Asn) c.3530C>A (p.Thr1177Asn) c.3260C>A (p.Thr1087Asn) n.3924C>A n.3909C>A n.4825C>A | |
1 | g.5863973T>A | CA338049066 | NPHP4 | c.4057A>T (p.Thr1353Ser) n.3208A>T c.*2958A>T (n.*2958A>T) n.2805A>T n.3789A>T c.*1868A>T (n.*1868A>T) c.2518A>T (p.Thr840Ser) c.2521A>T (p.Thr841Ser) n.4872A>T c.4054A>T (p.Thr1352Ser) c.4015A>T (p.Thr1339Ser) c.3946A>T (p.Thr1316Ser) c.4003A>T (p.Thr1335Ser) c.4012A>T (p.Thr1338Ser) c.3529A>T (p.Thr1177Ser) c.3259A>T (p.Thr1087Ser) n.3923A>T n.3908A>T n.4824A>T | |
1 | g.5863973T>C | CA17124862 | NPHP4 | c.4057A>G (p.Thr1353Ala) n.3208A>G c.*2958A>G (n.*2958A>G) n.2805A>G n.3789A>G c.*1868A>G (n.*1868A>G) c.2518A>G (p.Thr840Ala) c.2521A>G (p.Thr841Ala) n.4872A>G c.4054A>G (p.Thr1352Ala) c.4015A>G (p.Thr1339Ala) c.3946A>G (p.Thr1316Ala) c.4003A>G (p.Thr1335Ala) c.4012A>G (p.Thr1338Ala) c.3529A>G (p.Thr1177Ala) c.3259A>G (p.Thr1087Ala) n.3923A>G n.3908A>G n.4824A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863973T>G | CA338049069 | NPHP4 | c.4057A>C (p.Thr1353Pro) n.3208A>C c.*2958A>C (n.*2958A>C) n.2805A>C n.3789A>C c.*1868A>C (n.*1868A>C) c.2518A>C (p.Thr840Pro) c.2521A>C (p.Thr841Pro) n.4872A>C c.4054A>C (p.Thr1352Pro) c.4015A>C (p.Thr1339Pro) c.3946A>C (p.Thr1316Pro) c.4003A>C (p.Thr1335Pro) c.4012A>C (p.Thr1338Pro) c.3529A>C (p.Thr1177Pro) c.3259A>C (p.Thr1087Pro) n.3923A>C n.3908A>C n.4824A>C | |
1 | g.5863973T= | CA1151209214 | NPHP4 | c.4057A= (p.Thr1353=) n.3208A= c.*2958A= (n.*2958A=) n.2805A= n.3789A= c.*1868A= (n.*1868A=) c.2518A= (p.Thr840=) c.2521A= (p.Thr841=) n.4872A= c.4054A= (p.Thr1352=) c.4015A= (p.Thr1339=) c.3946A= (p.Thr1316=) c.4003A= (p.Thr1335=) c.4012A= (p.Thr1338=) c.3529A= (p.Thr1177=) c.3259A= (p.Thr1087=) n.3923A= n.3908A= n.4824A= | |
1 | g.5863974G>A | CA415787021 | NPHP4 | c.4056C>T (p.Tyr1352=) n.3207C>T c.*2957C>T (n.*2957C>T) n.2804C>T n.3788C>T c.*1867C>T (n.*1867C>T) c.2517C>T (p.Tyr839=) c.2520C>T (p.Tyr840=) n.4871C>T c.4053C>T (p.Tyr1351=) c.4014C>T (p.Tyr1338=) c.3945C>T (p.Tyr1315=) c.4002C>T (p.Tyr1334=) c.4011C>T (p.Tyr1337=) c.3528C>T (p.Tyr1176=) c.3258C>T (p.Tyr1086=) n.3922C>T n.3907C>T n.4823C>T | |
1 | g.5863974G>C | CA338049071 | NPHP4 | c.4056C>G (p.Tyr1352Ter) n.3207C>G c.*2957C>G (n.*2957C>G) n.2804C>G n.3788C>G c.*1867C>G (n.*1867C>G) c.2517C>G (p.Tyr839Ter) c.2520C>G (p.Tyr840Ter) n.4871C>G c.4053C>G (p.Tyr1351Ter) c.4014C>G (p.Tyr1338Ter) c.3945C>G (p.Tyr1315Ter) c.4002C>G (p.Tyr1334Ter) c.4011C>G (p.Tyr1337Ter) c.3528C>G (p.Tyr1176Ter) c.3258C>G (p.Tyr1086Ter) n.3922C>G n.3907C>G n.4823C>G | |
1 | g.5863974G>T | CA338049073 | NPHP4 | c.4056C>A (p.Tyr1352Ter) n.3207C>A c.*2957C>A (n.*2957C>A) n.2804C>A n.3788C>A c.*1867C>A (n.*1867C>A) c.2517C>A (p.Tyr839Ter) c.2520C>A (p.Tyr840Ter) n.4871C>A c.4053C>A (p.Tyr1351Ter) c.4014C>A (p.Tyr1338Ter) c.3945C>A (p.Tyr1315Ter) c.4002C>A (p.Tyr1334Ter) c.4011C>A (p.Tyr1337Ter) c.3528C>A (p.Tyr1176Ter) c.3258C>A (p.Tyr1086Ter) n.3922C>A n.3907C>A n.4823C>A | gnomAD v4 |
1 | g.5863975T>A | CA338049075 | NPHP4 | c.4055A>T (p.Tyr1352Phe) n.3206A>T c.*2956A>T (n.*2956A>T) n.2803A>T n.3787A>T c.*1866A>T (n.*1866A>T) c.2516A>T (p.Tyr839Phe) c.2519A>T (p.Tyr840Phe) n.4870A>T c.4052A>T (p.Tyr1351Phe) c.4013A>T (p.Tyr1338Phe) c.3944A>T (p.Tyr1315Phe) c.4001A>T (p.Tyr1334Phe) c.4010A>T (p.Tyr1337Phe) c.3527A>T (p.Tyr1176Phe) c.3257A>T (p.Tyr1086Phe) n.3921A>T n.3906A>T n.4822A>T | |
1 | g.5863975T>C | CA553368 | NPHP4 | c.4055A>G (p.Tyr1352Cys) n.3206A>G c.*2956A>G (n.*2956A>G) n.2803A>G n.3787A>G c.*1866A>G (n.*1866A>G) c.2516A>G (p.Tyr839Cys) c.2519A>G (p.Tyr840Cys) n.4870A>G c.4052A>G (p.Tyr1351Cys) c.4013A>G (p.Tyr1338Cys) c.3944A>G (p.Tyr1315Cys) c.4001A>G (p.Tyr1334Cys) c.4010A>G (p.Tyr1337Cys) c.3527A>G (p.Tyr1176Cys) c.3257A>G (p.Tyr1086Cys) n.3921A>G n.3906A>G n.4822A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863975T>G | CA338049077 | NPHP4 | c.4055A>C (p.Tyr1352Ser) n.3206A>C c.*2956A>C (n.*2956A>C) n.2803A>C n.3787A>C c.*1866A>C (n.*1866A>C) c.2516A>C (p.Tyr839Ser) c.2519A>C (p.Tyr840Ser) n.4870A>C c.4052A>C (p.Tyr1351Ser) c.4013A>C (p.Tyr1338Ser) c.3944A>C (p.Tyr1315Ser) c.4001A>C (p.Tyr1334Ser) c.4010A>C (p.Tyr1337Ser) c.3527A>C (p.Tyr1176Ser) c.3257A>C (p.Tyr1086Ser) n.3921A>C n.3906A>C n.4822A>C | |
1 | g.5863975T= | CA1151209219 | NPHP4 | c.4055A= (p.Tyr1352=) n.3206A= c.*2956A= (n.*2956A=) n.2803A= n.3787A= c.*1866A= (n.*1866A=) c.2516A= (p.Tyr839=) c.2519A= (p.Tyr840=) n.4870A= c.4052A= (p.Tyr1351=) c.4013A= (p.Tyr1338=) c.3944A= (p.Tyr1315=) c.4001A= (p.Tyr1334=) c.4010A= (p.Tyr1337=) c.3527A= (p.Tyr1176=) c.3257A= (p.Tyr1086=) n.3921A= n.3906A= n.4822A= | |
1 | g.5863976A= | CA1151209223 | NPHP4 | c.4054T= (p.Tyr1352=) n.3205T= c.*2955T= (n.*2955T=) n.2802T= n.3786T= c.*1865T= (n.*1865T=) c.2515T= (p.Tyr839=) c.2518T= (p.Tyr840=) n.4869T= c.4051T= (p.Tyr1351=) c.4012T= (p.Tyr1338=) c.3943T= (p.Tyr1315=) c.4000T= (p.Tyr1334=) c.4009T= (p.Tyr1337=) c.3526T= (p.Tyr1176=) c.3256T= (p.Tyr1086=) n.3920T= n.3905T= n.4821T= | |
1 | g.5863976A>C | CA338049079 | NPHP4 | c.4054T>G (p.Tyr1352Asp) n.3205T>G c.*2955T>G (n.*2955T>G) n.2802T>G n.3786T>G c.*1865T>G (n.*1865T>G) c.2515T>G (p.Tyr839Asp) c.2518T>G (p.Tyr840Asp) n.4869T>G c.4051T>G (p.Tyr1351Asp) c.4012T>G (p.Tyr1338Asp) c.3943T>G (p.Tyr1315Asp) c.4000T>G (p.Tyr1334Asp) c.4009T>G (p.Tyr1337Asp) c.3526T>G (p.Tyr1176Asp) c.3256T>G (p.Tyr1086Asp) n.3920T>G n.3905T>G n.4821T>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863976A>G | CA338049081 | NPHP4 | c.4054T>C (p.Tyr1352His) n.3205T>C c.*2955T>C (n.*2955T>C) n.2802T>C n.3786T>C c.*1865T>C (n.*1865T>C) c.2515T>C (p.Tyr839His) c.2518T>C (p.Tyr840His) n.4869T>C c.4051T>C (p.Tyr1351His) c.4012T>C (p.Tyr1338His) c.3943T>C (p.Tyr1315His) c.4000T>C (p.Tyr1334His) c.4009T>C (p.Tyr1337His) c.3526T>C (p.Tyr1176His) c.3256T>C (p.Tyr1086His) n.3920T>C n.3905T>C n.4821T>C | |
1 | g.5863976A>T | CA338049082 | NPHP4 | c.4054T>A (p.Tyr1352Asn) n.3205T>A c.*2955T>A (n.*2955T>A) n.2802T>A n.3786T>A c.*1865T>A (n.*1865T>A) c.2515T>A (p.Tyr839Asn) c.2518T>A (p.Tyr840Asn) n.4869T>A c.4051T>A (p.Tyr1351Asn) c.4012T>A (p.Tyr1338Asn) c.3943T>A (p.Tyr1315Asn) c.4000T>A (p.Tyr1334Asn) c.4009T>A (p.Tyr1337Asn) c.3526T>A (p.Tyr1176Asn) c.3256T>A (p.Tyr1086Asn) n.3920T>A n.3905T>A n.4821T>A | |
1 | g.5863977G>A | CA415787022 | NPHP4 | c.4053C>T (p.Thr1351=) n.3204C>T c.*2954C>T (n.*2954C>T) n.2801C>T n.3785C>T c.*1864C>T (n.*1864C>T) c.2514C>T (p.Thr838=) c.2517C>T (p.Thr839=) n.4868C>T c.4050C>T (p.Thr1350=) c.4011C>T (p.Thr1337=) c.3942C>T (p.Thr1314=) c.3999C>T (p.Thr1333=) c.4008C>T (p.Thr1336=) c.3525C>T (p.Thr1175=) c.3255C>T (p.Thr1085=) n.3919C>T n.3904C>T n.4820C>T | |
1 | g.5863977G>C | CA415787023 | NPHP4 | c.4053C>G (p.Thr1351=) n.3204C>G c.*2954C>G (n.*2954C>G) n.2801C>G n.3785C>G c.*1864C>G (n.*1864C>G) c.2514C>G (p.Thr838=) c.2517C>G (p.Thr839=) n.4868C>G c.4050C>G (p.Thr1350=) c.4011C>G (p.Thr1337=) c.3942C>G (p.Thr1314=) c.3999C>G (p.Thr1333=) c.4008C>G (p.Thr1336=) c.3525C>G (p.Thr1175=) c.3255C>G (p.Thr1085=) n.3919C>G n.3904C>G n.4820C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863977G= | CA1151209225 | NPHP4 | c.4053C= (p.Thr1351=) n.3204C= c.*2954C= (n.*2954C=) n.2801C= n.3785C= c.*1864C= (n.*1864C=) c.2514C= (p.Thr838=) c.2517C= (p.Thr839=) n.4868C= c.4050C= (p.Thr1350=) c.4011C= (p.Thr1337=) c.3942C= (p.Thr1314=) c.3999C= (p.Thr1333=) c.4008C= (p.Thr1336=) c.3525C= (p.Thr1175=) c.3255C= (p.Thr1085=) n.3919C= n.3904C= n.4820C= | |
1 | g.5863977G>T | CA415787024 | NPHP4 | c.4053C>A (p.Thr1351=) n.3204C>A c.*2954C>A (n.*2954C>A) n.2801C>A n.3785C>A c.*1864C>A (n.*1864C>A) c.2514C>A (p.Thr838=) c.2517C>A (p.Thr839=) n.4868C>A c.4050C>A (p.Thr1350=) c.4011C>A (p.Thr1337=) c.3942C>A (p.Thr1314=) c.3999C>A (p.Thr1333=) c.4008C>A (p.Thr1336=) c.3525C>A (p.Thr1175=) c.3255C>A (p.Thr1085=) n.3919C>A n.3904C>A n.4820C>A | gnomAD v4 |
1 | g.5863978G>A | CA338049084 | NPHP4 | c.4052C>T (p.Thr1351Ile) n.3203C>T c.*2953C>T (n.*2953C>T) n.2800C>T n.3784C>T c.*1863C>T (n.*1863C>T) c.2513C>T (p.Thr838Ile) c.2516C>T (p.Thr839Ile) n.4867C>T c.4049C>T (p.Thr1350Ile) c.4010C>T (p.Thr1337Ile) c.3941C>T (p.Thr1314Ile) c.3998C>T (p.Thr1333Ile) c.4007C>T (p.Thr1336Ile) c.3524C>T (p.Thr1175Ile) c.3254C>T (p.Thr1085Ile) n.3918C>T n.3903C>T n.4819C>T | |
1 | g.5863978G>C | CA338049085 | NPHP4 | c.4052C>G (p.Thr1351Ser) n.3203C>G c.*2953C>G (n.*2953C>G) n.2800C>G n.3784C>G c.*1863C>G (n.*1863C>G) c.2513C>G (p.Thr838Ser) c.2516C>G (p.Thr839Ser) n.4867C>G c.4049C>G (p.Thr1350Ser) c.4010C>G (p.Thr1337Ser) c.3941C>G (p.Thr1314Ser) c.3998C>G (p.Thr1333Ser) c.4007C>G (p.Thr1336Ser) c.3524C>G (p.Thr1175Ser) c.3254C>G (p.Thr1085Ser) n.3918C>G n.3903C>G n.4819C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863978G= | CA1151209228 | NPHP4 | c.4052C= (p.Thr1351=) n.3203C= c.*2953C= (n.*2953C=) n.2800C= n.3784C= c.*1863C= (n.*1863C=) c.2513C= (p.Thr838=) c.2516C= (p.Thr839=) n.4867C= c.4049C= (p.Thr1350=) c.4010C= (p.Thr1337=) c.3941C= (p.Thr1314=) c.3998C= (p.Thr1333=) c.4007C= (p.Thr1336=) c.3524C= (p.Thr1175=) c.3254C= (p.Thr1085=) n.3918C= n.3903C= n.4819C= | |
1 | g.5863978G>T | CA338049088 | NPHP4 | c.4052C>A (p.Thr1351Asn) n.3203C>A c.*2953C>A (n.*2953C>A) n.2800C>A n.3784C>A c.*1863C>A (n.*1863C>A) c.2513C>A (p.Thr838Asn) c.2516C>A (p.Thr839Asn) n.4867C>A c.4049C>A (p.Thr1350Asn) c.4010C>A (p.Thr1337Asn) c.3941C>A (p.Thr1314Asn) c.3998C>A (p.Thr1333Asn) c.4007C>A (p.Thr1336Asn) c.3524C>A (p.Thr1175Asn) c.3254C>A (p.Thr1085Asn) n.3918C>A n.3903C>A n.4819C>A | |
1 | g.5863979T>A | CA338049089 | NPHP4 | c.4051A>T (p.Thr1351Ser) n.3202A>T c.*2952A>T (n.*2952A>T) n.2799A>T n.3783A>T c.*1862A>T (n.*1862A>T) c.2512A>T (p.Thr838Ser) c.2515A>T (p.Thr839Ser) n.4866A>T c.4048A>T (p.Thr1350Ser) c.4009A>T (p.Thr1337Ser) c.3940A>T (p.Thr1314Ser) c.3997A>T (p.Thr1333Ser) c.4006A>T (p.Thr1336Ser) c.3523A>T (p.Thr1175Ser) c.3253A>T (p.Thr1085Ser) n.3917A>T n.3902A>T n.4818A>T | |
1 | g.5863979T>C | CA338049091 | NPHP4 | c.4051A>G (p.Thr1351Ala) n.3202A>G c.*2952A>G (n.*2952A>G) n.2799A>G n.3783A>G c.*1862A>G (n.*1862A>G) c.2512A>G (p.Thr838Ala) c.2515A>G (p.Thr839Ala) n.4866A>G c.4048A>G (p.Thr1350Ala) c.4009A>G (p.Thr1337Ala) c.3940A>G (p.Thr1314Ala) c.3997A>G (p.Thr1333Ala) c.4006A>G (p.Thr1336Ala) c.3523A>G (p.Thr1175Ala) c.3253A>G (p.Thr1085Ala) n.3917A>G n.3902A>G n.4818A>G | |
1 | g.5863979T>G | CA553369 | NPHP4 | c.4051A>C (p.Thr1351Pro) n.3202A>C c.*2952A>C (n.*2952A>C) n.2799A>C n.3783A>C c.*1862A>C (n.*1862A>C) c.2512A>C (p.Thr838Pro) c.2515A>C (p.Thr839Pro) n.4866A>C c.4048A>C (p.Thr1350Pro) c.4009A>C (p.Thr1337Pro) c.3940A>C (p.Thr1314Pro) c.3997A>C (p.Thr1333Pro) c.4006A>C (p.Thr1336Pro) c.3523A>C (p.Thr1175Pro) c.3253A>C (p.Thr1085Pro) n.3917A>C n.3902A>C n.4818A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863979T= | CA1148286732 | NPHP4 | c.4051A= (p.Thr1351=) n.3202A= c.*2952A= (n.*2952A=) n.2799A= n.3783A= c.*1862A= (n.*1862A=) c.2512A= (p.Thr838=) c.2515A= (p.Thr839=) n.4866A= c.4048A= (p.Thr1350=) c.4009A= (p.Thr1337=) c.3940A= (p.Thr1314=) c.3997A= (p.Thr1333=) c.4006A= (p.Thr1336=) c.3523A= (p.Thr1175=) c.3253A= (p.Thr1085=) n.3917A= n.3902A= n.4818A= | |
1 | g.5863980del | CA2642901904 | NPHP4 | c.4050del (p.Thr1351ProfsTer?) n.3201del c.*2951del (n.*2951del) n.2798del n.3782del c.*1861del (n.*1861del) c.2511del (p.Thr838ProfsTer?) c.2514del (p.Thr839ProfsTer?) n.4865del c.4047del (p.Thr1350ProfsTer?) c.4008del (p.Thr1337ProfsTer?) c.3939del (p.Thr1314ProfsTer?) c.3996del (p.Thr1333ProfsTer?) c.4005del (p.Thr1336ProfsTer?) c.3522del (p.Thr1175ProfsTer?) c.3252del (p.Thr1085ProfsTer?) n.3916del n.3901del n.4817del | gnomAD v4 |
1 | g.5863980G>A | CA415787025 | NPHP4 | c.4050C>T (p.Ile1350=) n.3201C>T c.*2951C>T (n.*2951C>T) n.2798C>T n.3782C>T c.*1861C>T (n.*1861C>T) c.2511C>T (p.Ile837=) c.2514C>T (p.Ile838=) n.4865C>T c.4047C>T (p.Ile1349=) c.4008C>T (p.Ile1336=) c.3939C>T (p.Ile1313=) c.3996C>T (p.Ile1332=) c.4005C>T (p.Ile1335=) c.3522C>T (p.Ile1174=) c.3252C>T (p.Ile1084=) n.3916C>T n.3901C>T n.4817C>T | |
1 | g.5863980G>C | CA338049094 | NPHP4 | c.4050C>G (p.Ile1350Met) n.3201C>G c.*2951C>G (n.*2951C>G) n.2798C>G n.3782C>G c.*1861C>G (n.*1861C>G) c.2511C>G (p.Ile837Met) c.2514C>G (p.Ile838Met) n.4865C>G c.4047C>G (p.Ile1349Met) c.4008C>G (p.Ile1336Met) c.3939C>G (p.Ile1313Met) c.3996C>G (p.Ile1332Met) c.4005C>G (p.Ile1335Met) c.3522C>G (p.Ile1174Met) c.3252C>G (p.Ile1084Met) n.3916C>G n.3901C>G n.4817C>G | |
1 | g.5863980G= | CA1151209243 | NPHP4 | c.4050C= (p.Ile1350=) n.3201C= c.*2951C= (n.*2951C=) n.2798C= n.3782C= c.*1861C= (n.*1861C=) c.2511C= (p.Ile837=) c.2514C= (p.Ile838=) n.4865C= c.4047C= (p.Ile1349=) c.4008C= (p.Ile1336=) c.3939C= (p.Ile1313=) c.3996C= (p.Ile1332=) c.4005C= (p.Ile1335=) c.3522C= (p.Ile1174=) c.3252C= (p.Ile1084=) n.3916C= n.3901C= n.4817C= | |
1 | g.5863980G>T | CA553370 | NPHP4 | c.4050C>A (p.Ile1350=) n.3201C>A c.*2951C>A (n.*2951C>A) n.2798C>A n.3782C>A c.*1861C>A (n.*1861C>A) c.2511C>A (p.Ile837=) c.2514C>A (p.Ile838=) n.4865C>A c.4047C>A (p.Ile1349=) c.4008C>A (p.Ile1336=) c.3939C>A (p.Ile1313=) c.3996C>A (p.Ile1332=) c.4005C>A (p.Ile1335=) c.3522C>A (p.Ile1174=) c.3252C>A (p.Ile1084=) n.3916C>A n.3901C>A n.4817C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863981A>C | CA338049096 | NPHP4 | c.4049T>G (p.Ile1350Ser) n.3200T>G c.*2950T>G (n.*2950T>G) n.2797T>G n.3781T>G c.*1860T>G (n.*1860T>G) c.2510T>G (p.Ile837Ser) c.2513T>G (p.Ile838Ser) n.4864T>G c.4046T>G (p.Ile1349Ser) c.4007T>G (p.Ile1336Ser) c.3938T>G (p.Ile1313Ser) c.3995T>G (p.Ile1332Ser) c.4004T>G (p.Ile1335Ser) c.3521T>G (p.Ile1174Ser) c.3251T>G (p.Ile1084Ser) n.3915T>G n.3900T>G n.4816T>G | |
1 | g.5863981A>G | CA338049098 | NPHP4 | c.4049T>C (p.Ile1350Thr) n.3200T>C c.*2950T>C (n.*2950T>C) n.2797T>C n.3781T>C c.*1860T>C (n.*1860T>C) c.2510T>C (p.Ile837Thr) c.2513T>C (p.Ile838Thr) n.4864T>C c.4046T>C (p.Ile1349Thr) c.4007T>C (p.Ile1336Thr) c.3938T>C (p.Ile1313Thr) c.3995T>C (p.Ile1332Thr) c.4004T>C (p.Ile1335Thr) c.3521T>C (p.Ile1174Thr) c.3251T>C (p.Ile1084Thr) n.3915T>C n.3900T>C n.4816T>C | |
1 | g.5863981A>T | CA338049100 | NPHP4 | c.4049T>A (p.Ile1350Asn) n.3200T>A c.*2950T>A (n.*2950T>A) n.2797T>A n.3781T>A c.*1860T>A (n.*1860T>A) c.2510T>A (p.Ile837Asn) c.2513T>A (p.Ile838Asn) n.4864T>A c.4046T>A (p.Ile1349Asn) c.4007T>A (p.Ile1336Asn) c.3938T>A (p.Ile1313Asn) c.3995T>A (p.Ile1332Asn) c.4004T>A (p.Ile1335Asn) c.3521T>A (p.Ile1174Asn) c.3251T>A (p.Ile1084Asn) n.3915T>A n.3900T>A n.4816T>A | |
1 | g.5863982T>A | CA338049102 | NPHP4 | c.4048A>T (p.Ile1350Phe) n.3199A>T c.*2949A>T (n.*2949A>T) n.2796A>T n.3780A>T c.*1859A>T (n.*1859A>T) c.2509A>T (p.Ile837Phe) c.2512A>T (p.Ile838Phe) n.4863A>T c.4045A>T (p.Ile1349Phe) c.4006A>T (p.Ile1336Phe) c.3937A>T (p.Ile1313Phe) c.3994A>T (p.Ile1332Phe) c.4003A>T (p.Ile1335Phe) c.3520A>T (p.Ile1174Phe) c.3250A>T (p.Ile1084Phe) n.3914A>T n.3899A>T n.4815A>T | |
1 | g.5863982T>C | CA338049104 | NPHP4 | c.4048A>G (p.Ile1350Val) n.3199A>G c.*2949A>G (n.*2949A>G) n.2796A>G n.3780A>G c.*1859A>G (n.*1859A>G) c.2509A>G (p.Ile837Val) c.2512A>G (p.Ile838Val) n.4863A>G c.4045A>G (p.Ile1349Val) c.4006A>G (p.Ile1336Val) c.3937A>G (p.Ile1313Val) c.3994A>G (p.Ile1332Val) c.4003A>G (p.Ile1335Val) c.3520A>G (p.Ile1174Val) c.3250A>G (p.Ile1084Val) n.3914A>G n.3899A>G n.4815A>G | gnomAD v4 |
1 | g.5863982T>G | CA338049105 | NPHP4 | c.4048A>C (p.Ile1350Leu) n.3199A>C c.*2949A>C (n.*2949A>C) n.2796A>C n.3780A>C c.*1859A>C (n.*1859A>C) c.2509A>C (p.Ile837Leu) c.2512A>C (p.Ile838Leu) n.4863A>C c.4045A>C (p.Ile1349Leu) c.4006A>C (p.Ile1336Leu) c.3937A>C (p.Ile1313Leu) c.3994A>C (p.Ile1332Leu) c.4003A>C (p.Ile1335Leu) c.3520A>C (p.Ile1174Leu) c.3250A>C (p.Ile1084Leu) n.3914A>C n.3899A>C n.4815A>C | |
1 | g.5863983C>A | CA338049106 | NPHP4 | c.4047G>T (p.Arg1349Ser) n.3198G>T c.*2948G>T (n.*2948G>T) n.2795G>T n.3779G>T c.*1858G>T (n.*1858G>T) c.2508G>T (p.Arg836Ser) c.2511G>T (p.Arg837Ser) n.4862G>T c.4044G>T (p.Arg1348Ser) c.4005G>T (p.Arg1335Ser) c.3936G>T (p.Arg1312Ser) c.3993G>T (p.Arg1331Ser) c.4002G>T (p.Arg1334Ser) c.3519G>T (p.Arg1173Ser) c.3249G>T (p.Arg1083Ser) n.3913G>T n.3898G>T n.4814G>T | |
1 | g.5863983C>G | CA338049108 | NPHP4 | c.4047G>C (p.Arg1349Ser) n.3198G>C c.*2948G>C (n.*2948G>C) n.2795G>C n.3779G>C c.*1858G>C (n.*1858G>C) c.2508G>C (p.Arg836Ser) c.2511G>C (p.Arg837Ser) n.4862G>C c.4044G>C (p.Arg1348Ser) c.4005G>C (p.Arg1335Ser) c.3936G>C (p.Arg1312Ser) c.3993G>C (p.Arg1331Ser) c.4002G>C (p.Arg1334Ser) c.3519G>C (p.Arg1173Ser) c.3249G>C (p.Arg1083Ser) n.3913G>C n.3898G>C n.4814G>C | gnomAD v4 |
1 | g.5863983C>T | CA415787026 | NPHP4 | c.4047G>A (p.Arg1349=) n.3198G>A c.*2948G>A (n.*2948G>A) n.2795G>A n.3779G>A c.*1858G>A (n.*1858G>A) c.2508G>A (p.Arg836=) c.2511G>A (p.Arg837=) n.4862G>A c.4044G>A (p.Arg1348=) c.4005G>A (p.Arg1335=) c.3936G>A (p.Arg1312=) c.3993G>A (p.Arg1331=) c.4002G>A (p.Arg1334=) c.3519G>A (p.Arg1173=) c.3249G>A (p.Arg1083=) n.3913G>A n.3898G>A n.4814G>A | |
1 | g.5863984C>A | CA338049110 | NPHP4 | c.4046G>T (p.Arg1349Met) n.3197G>T c.*2947G>T (n.*2947G>T) n.2794G>T n.3778G>T c.*1857G>T (n.*1857G>T) c.2507G>T (p.Arg836Met) c.2510G>T (p.Arg837Met) n.4861G>T c.4043G>T (p.Arg1348Met) c.4004G>T (p.Arg1335Met) c.3935G>T (p.Arg1312Met) c.3992G>T (p.Arg1331Met) c.4001G>T (p.Arg1334Met) c.3518G>T (p.Arg1173Met) c.3248G>T (p.Arg1083Met) n.3912G>T n.3897G>T n.4813G>T | |
1 | g.5863984C>G | CA338049112 | NPHP4 | c.4046G>C (p.Arg1349Thr) n.3197G>C c.*2947G>C (n.*2947G>C) n.2794G>C n.3778G>C c.*1857G>C (n.*1857G>C) c.2507G>C (p.Arg836Thr) c.2510G>C (p.Arg837Thr) n.4861G>C c.4043G>C (p.Arg1348Thr) c.4004G>C (p.Arg1335Thr) c.3935G>C (p.Arg1312Thr) c.3992G>C (p.Arg1331Thr) c.4001G>C (p.Arg1334Thr) c.3518G>C (p.Arg1173Thr) c.3248G>C (p.Arg1083Thr) n.3912G>C n.3897G>C n.4813G>C | |
1 | g.5863984C>T | CA338049113 | NPHP4 | c.4046G>A (p.Arg1349Lys) n.3197G>A c.*2947G>A (n.*2947G>A) n.2794G>A n.3778G>A c.*1857G>A (n.*1857G>A) c.2507G>A (p.Arg836Lys) c.2510G>A (p.Arg837Lys) n.4861G>A c.4043G>A (p.Arg1348Lys) c.4004G>A (p.Arg1335Lys) c.3935G>A (p.Arg1312Lys) c.3992G>A (p.Arg1331Lys) c.4001G>A (p.Arg1334Lys) c.3518G>A (p.Arg1173Lys) c.3248G>A (p.Arg1083Lys) n.3912G>A n.3897G>A n.4813G>A | ClinVar dbSNP gnomAD v4 |
1 | g.5863984_5863999delinsCTCTTGTTGACACCCT | CA1151209251 | NPHP4 | c.4031_4046delinsAGGGTGTCAACAAGAG (p.Lys1344=) n.3182_3197delinsAGGGTGTCAACAAGAG c.*2932_*2947delinsAGGGTGTCAACAAGAG (n.*2932_*2947delinsAGGGTGTCAACAAGAG) n.2779_2794delinsAGGGTGTCAACAAGAG n.3763_3778delinsAGGGTGTCAACAAGAG c.*1842_*1857delinsAGGGTGTCAACAAGAG (n.*1842_*1857delinsAGGGTGTCAACAAGAG) c.2492_2507delinsAGGGTGTCAACAAGAG (p.Lys831=) c.2495_2510delinsAGGGTGTCAACAAGAG (p.Lys832=) n.4846_4861delinsAGGGTGTCAACAAGAG c.4028_4043delinsAGGGTGTCAACAAGAG (p.Lys1343=) c.3989_4004delinsAGGGTGTCAACAAGAG (p.Lys1330=) c.3920_3935delinsAGGGTGTCAACAAGAG (p.Lys1307=) c.3977_3992delinsAGGGTGTCAACAAGAG (p.Lys1326=) c.3986_4001delinsAGGGTGTCAACAAGAG (p.Lys1329=) c.3503_3518delinsAGGGTGTCAACAAGAG (p.Lys1168=) c.3233_3248delinsAGGGTGTCAACAAGAG (p.Lys1078=) n.3897_3912delinsAGGGTGTCAACAAGAG n.3882_3897delinsAGGGTGTCAACAAGAG n.4798_4813delinsAGGGTGTCAACAAGAG | |
1 | g.5863985T>A | CA338049116 | NPHP4 | c.4045A>T (p.Arg1349Trp) n.3196A>T c.*2946A>T (n.*2946A>T) n.2793A>T n.3777A>T c.*1856A>T (n.*1856A>T) c.2506A>T (p.Arg836Trp) c.2509A>T (p.Arg837Trp) n.4860A>T c.4042A>T (p.Arg1348Trp) c.4003A>T (p.Arg1335Trp) c.3934A>T (p.Arg1312Trp) c.3991A>T (p.Arg1331Trp) c.4000A>T (p.Arg1334Trp) c.3517A>T (p.Arg1173Trp) c.3247A>T (p.Arg1083Trp) n.3911A>T n.3896A>T n.4812A>T | |
1 | g.5863985T>C | CA338049118 | NPHP4 | c.4045A>G (p.Arg1349Gly) n.3196A>G c.*2946A>G (n.*2946A>G) n.2793A>G n.3777A>G c.*1856A>G (n.*1856A>G) c.2506A>G (p.Arg836Gly) c.2509A>G (p.Arg837Gly) n.4860A>G c.4042A>G (p.Arg1348Gly) c.4003A>G (p.Arg1335Gly) c.3934A>G (p.Arg1312Gly) c.3991A>G (p.Arg1331Gly) c.4000A>G (p.Arg1334Gly) c.3517A>G (p.Arg1173Gly) c.3247A>G (p.Arg1083Gly) n.3911A>G n.3896A>G n.4812A>G | |
1 | g.5863985T>G | CA415787027 | NPHP4 | c.4045A>C (p.Arg1349=) n.3196A>C c.*2946A>C (n.*2946A>C) n.2793A>C n.3777A>C c.*1856A>C (n.*1856A>C) c.2506A>C (p.Arg836=) c.2509A>C (p.Arg837=) n.4860A>C c.4042A>C (p.Arg1348=) c.4003A>C (p.Arg1335=) c.3934A>C (p.Arg1312=) c.3991A>C (p.Arg1331=) c.4000A>C (p.Arg1334=) c.3517A>C (p.Arg1173=) c.3247A>C (p.Arg1083=) n.3911A>C n.3896A>C n.4812A>C | |
1 | g.5863987_5864001del | CA1151209254 | NPHP4 | c.4031_4045del (p.Lys1344_Lys1348del) n.3182_3196del c.*2932_*2946del (n.*2932_*2946del) n.2779_2793del n.3763_3777del c.*1842_*1856del (n.*1842_*1856del) c.2492_2506del (p.Lys831_Lys835del) c.2495_2509del (p.Lys832_Lys836del) n.4846_4860del c.4028_4042del (p.Lys1343_Lys1347del) c.3989_4003del (p.Lys1330_Lys1334del) c.3920_3934del (p.Lys1307_Lys1311del) c.3977_3991del (p.Lys1326_Lys1330del) c.3986_4000del (p.Lys1329_Lys1333del) c.3503_3517del (p.Lys1168_Lys1172del) c.3233_3247del (p.Lys1078_Lys1082del) n.3897_3911del n.3882_3896del n.4798_4812del | dbSNP |
1 | g.5863986C>A | CA338049119 | NPHP4 | c.4044G>T (p.Lys1348Asn) n.3195G>T c.*2945G>T (n.*2945G>T) n.2792G>T n.3776G>T c.*1855G>T (n.*1855G>T) c.2505G>T (p.Lys835Asn) c.2508G>T (p.Lys836Asn) n.4859G>T c.4041G>T (p.Lys1347Asn) c.4002G>T (p.Lys1334Asn) c.3933G>T (p.Lys1311Asn) c.3990G>T (p.Lys1330Asn) c.3999G>T (p.Lys1333Asn) c.3516G>T (p.Lys1172Asn) c.3246G>T (p.Lys1082Asn) n.3910G>T n.3895G>T n.4811G>T | |
1 | g.5863986C>G | CA338049121 | NPHP4 | c.4044G>C (p.Lys1348Asn) n.3195G>C c.*2945G>C (n.*2945G>C) n.2792G>C n.3776G>C c.*1855G>C (n.*1855G>C) c.2505G>C (p.Lys835Asn) c.2508G>C (p.Lys836Asn) n.4859G>C c.4041G>C (p.Lys1347Asn) c.4002G>C (p.Lys1334Asn) c.3933G>C (p.Lys1311Asn) c.3990G>C (p.Lys1330Asn) c.3999G>C (p.Lys1333Asn) c.3516G>C (p.Lys1172Asn) c.3246G>C (p.Lys1082Asn) n.3910G>C n.3895G>C n.4811G>C | |
1 | g.5863986C>T | CA415787028 | NPHP4 | c.4044G>A (p.Lys1348=) n.3195G>A c.*2945G>A (n.*2945G>A) n.2792G>A n.3776G>A c.*1855G>A (n.*1855G>A) c.2505G>A (p.Lys835=) c.2508G>A (p.Lys836=) n.4859G>A c.4041G>A (p.Lys1347=) c.4002G>A (p.Lys1334=) c.3933G>A (p.Lys1311=) c.3990G>A (p.Lys1330=) c.3999G>A (p.Lys1333=) c.3516G>A (p.Lys1172=) c.3246G>A (p.Lys1082=) n.3910G>A n.3895G>A n.4811G>A | |
1 | g.5863987T>A | CA338049123 | NPHP4 | c.4043A>T (p.Lys1348Met) n.3194A>T c.*2944A>T (n.*2944A>T) n.2791A>T n.3775A>T c.*1854A>T (n.*1854A>T) c.2504A>T (p.Lys835Met) c.2507A>T (p.Lys836Met) n.4858A>T c.4040A>T (p.Lys1347Met) c.4001A>T (p.Lys1334Met) c.3932A>T (p.Lys1311Met) c.3989A>T (p.Lys1330Met) c.3998A>T (p.Lys1333Met) c.3515A>T (p.Lys1172Met) c.3245A>T (p.Lys1082Met) n.3909A>T n.3894A>T n.4810A>T | |
1 | g.5863987T>C | CA338049125 | NPHP4 | c.4043A>G (p.Lys1348Arg) n.3194A>G c.*2944A>G (n.*2944A>G) n.2791A>G n.3775A>G c.*1854A>G (n.*1854A>G) c.2504A>G (p.Lys835Arg) c.2507A>G (p.Lys836Arg) n.4858A>G c.4040A>G (p.Lys1347Arg) c.4001A>G (p.Lys1334Arg) c.3932A>G (p.Lys1311Arg) c.3989A>G (p.Lys1330Arg) c.3998A>G (p.Lys1333Arg) c.3515A>G (p.Lys1172Arg) c.3245A>G (p.Lys1082Arg) n.3909A>G n.3894A>G n.4810A>G | |
1 | g.5863987T>G | CA338049126 | NPHP4 | c.4043A>C (p.Lys1348Thr) n.3194A>C c.*2944A>C (n.*2944A>C) n.2791A>C n.3775A>C c.*1854A>C (n.*1854A>C) c.2504A>C (p.Lys835Thr) c.2507A>C (p.Lys836Thr) n.4858A>C c.4040A>C (p.Lys1347Thr) c.4001A>C (p.Lys1334Thr) c.3932A>C (p.Lys1311Thr) c.3989A>C (p.Lys1330Thr) c.3998A>C (p.Lys1333Thr) c.3515A>C (p.Lys1172Thr) c.3245A>C (p.Lys1082Thr) n.3909A>C n.3894A>C n.4810A>C | |
1 | g.5863988T>A | CA338049129 | NPHP4 | c.4042A>T (p.Lys1348Ter) n.3193A>T c.*2943A>T (n.*2943A>T) n.2790A>T n.3774A>T c.*1853A>T (n.*1853A>T) c.2503A>T (p.Lys835Ter) c.2506A>T (p.Lys836Ter) n.4857A>T c.4039A>T (p.Lys1347Ter) c.4000A>T (p.Lys1334Ter) c.3931A>T (p.Lys1311Ter) c.3988A>T (p.Lys1330Ter) c.3997A>T (p.Lys1333Ter) c.3514A>T (p.Lys1172Ter) c.3244A>T (p.Lys1082Ter) n.3908A>T n.3893A>T n.4809A>T | |
1 | g.5863988T>C | CA338049130 | NPHP4 | c.4042A>G (p.Lys1348Glu) n.3193A>G c.*2943A>G (n.*2943A>G) n.2790A>G n.3774A>G c.*1853A>G (n.*1853A>G) c.2503A>G (p.Lys835Glu) c.2506A>G (p.Lys836Glu) n.4857A>G c.4039A>G (p.Lys1347Glu) c.4000A>G (p.Lys1334Glu) c.3931A>G (p.Lys1311Glu) c.3988A>G (p.Lys1330Glu) c.3997A>G (p.Lys1333Glu) c.3514A>G (p.Lys1172Glu) c.3244A>G (p.Lys1082Glu) n.3908A>G n.3893A>G n.4809A>G | |
1 | g.5863988T>G | CA338049132 | NPHP4 | c.4042A>C (p.Lys1348Gln) n.3193A>C c.*2943A>C (n.*2943A>C) n.2790A>C n.3774A>C c.*1853A>C (n.*1853A>C) c.2503A>C (p.Lys835Gln) c.2506A>C (p.Lys836Gln) n.4857A>C c.4039A>C (p.Lys1347Gln) c.4000A>C (p.Lys1334Gln) c.3931A>C (p.Lys1311Gln) c.3988A>C (p.Lys1330Gln) c.3997A>C (p.Lys1333Gln) c.3514A>C (p.Lys1172Gln) c.3244A>C (p.Lys1082Gln) n.3908A>C n.3893A>C n.4809A>C | |
1 | g.5863989G>A | CA415787029 | NPHP4 | c.4041C>T (p.Asn1347=) n.3192C>T c.*2942C>T (n.*2942C>T) n.2789C>T n.3773C>T c.*1852C>T (n.*1852C>T) c.2502C>T (p.Asn834=) c.2505C>T (p.Asn835=) n.4856C>T c.4038C>T (p.Asn1346=) c.3999C>T (p.Asn1333=) c.3930C>T (p.Asn1310=) c.3987C>T (p.Asn1329=) c.3996C>T (p.Asn1332=) c.3513C>T (p.Asn1171=) c.3243C>T (p.Asn1081=) n.3907C>T n.3892C>T n.4808C>T | |
1 | g.5863989G>C | CA338049135 | NPHP4 | c.4041C>G (p.Asn1347Lys) n.3192C>G c.*2942C>G (n.*2942C>G) n.2789C>G n.3773C>G c.*1852C>G (n.*1852C>G) c.2502C>G (p.Asn834Lys) c.2505C>G (p.Asn835Lys) n.4856C>G c.4038C>G (p.Asn1346Lys) c.3999C>G (p.Asn1333Lys) c.3930C>G (p.Asn1310Lys) c.3987C>G (p.Asn1329Lys) c.3996C>G (p.Asn1332Lys) c.3513C>G (p.Asn1171Lys) c.3243C>G (p.Asn1081Lys) n.3907C>G n.3892C>G n.4808C>G | |
1 | g.5863989G= | CA1151209256 | NPHP4 | c.4041C= (p.Asn1347=) n.3192C= c.*2942C= (n.*2942C=) n.2789C= n.3773C= c.*1852C= (n.*1852C=) c.2502C= (p.Asn834=) c.2505C= (p.Asn835=) n.4856C= c.4038C= (p.Asn1346=) c.3999C= (p.Asn1333=) c.3930C= (p.Asn1310=) c.3987C= (p.Asn1329=) c.3996C= (p.Asn1332=) c.3513C= (p.Asn1171=) c.3243C= (p.Asn1081=) n.3907C= n.3892C= n.4808C= | |
1 | g.5863989G>T | CA338049133 | NPHP4 | c.4041C>A (p.Asn1347Lys) n.3192C>A c.*2942C>A (n.*2942C>A) n.2789C>A n.3773C>A c.*1852C>A (n.*1852C>A) c.2502C>A (p.Asn834Lys) c.2505C>A (p.Asn835Lys) n.4856C>A c.4038C>A (p.Asn1346Lys) c.3999C>A (p.Asn1333Lys) c.3930C>A (p.Asn1310Lys) c.3987C>A (p.Asn1329Lys) c.3996C>A (p.Asn1332Lys) c.3513C>A (p.Asn1171Lys) c.3243C>A (p.Asn1081Lys) n.3907C>A n.3892C>A n.4808C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863990T>A | CA338049137 | NPHP4 | c.4040A>T (p.Asn1347Ile) n.3191A>T c.*2941A>T (n.*2941A>T) n.2788A>T n.3772A>T c.*1851A>T (n.*1851A>T) c.2501A>T (p.Asn834Ile) c.2504A>T (p.Asn835Ile) n.4855A>T c.4037A>T (p.Asn1346Ile) c.3998A>T (p.Asn1333Ile) c.3929A>T (p.Asn1310Ile) c.3986A>T (p.Asn1329Ile) c.3995A>T (p.Asn1332Ile) c.3512A>T (p.Asn1171Ile) c.3242A>T (p.Asn1081Ile) n.3906A>T n.3891A>T n.4807A>T | |
1 | g.5863990T>C | CA338049139 | NPHP4 | c.4040A>G (p.Asn1347Ser) n.3191A>G c.*2941A>G (n.*2941A>G) n.2788A>G n.3772A>G c.*1851A>G (n.*1851A>G) c.2501A>G (p.Asn834Ser) c.2504A>G (p.Asn835Ser) n.4855A>G c.4037A>G (p.Asn1346Ser) c.3998A>G (p.Asn1333Ser) c.3929A>G (p.Asn1310Ser) c.3986A>G (p.Asn1329Ser) c.3995A>G (p.Asn1332Ser) c.3512A>G (p.Asn1171Ser) c.3242A>G (p.Asn1081Ser) n.3906A>G n.3891A>G n.4807A>G | |
1 | g.5863990T>G | CA338049140 | NPHP4 | c.4040A>C (p.Asn1347Thr) n.3191A>C c.*2941A>C (n.*2941A>C) n.2788A>C n.3772A>C c.*1851A>C (n.*1851A>C) c.2501A>C (p.Asn834Thr) c.2504A>C (p.Asn835Thr) n.4855A>C c.4037A>C (p.Asn1346Thr) c.3998A>C (p.Asn1333Thr) c.3929A>C (p.Asn1310Thr) c.3986A>C (p.Asn1329Thr) c.3995A>C (p.Asn1332Thr) c.3512A>C (p.Asn1171Thr) c.3242A>C (p.Asn1081Thr) n.3906A>C n.3891A>C n.4807A>C | |
1 | g.5863991T>A | CA338049142 | NPHP4 | c.4039A>T (p.Asn1347Tyr) n.3190A>T c.*2940A>T (n.*2940A>T) n.2787A>T n.3771A>T c.*1850A>T (n.*1850A>T) c.2500A>T (p.Asn834Tyr) c.2503A>T (p.Asn835Tyr) n.4854A>T c.4036A>T (p.Asn1346Tyr) c.3997A>T (p.Asn1333Tyr) c.3928A>T (p.Asn1310Tyr) c.3985A>T (p.Asn1329Tyr) c.3994A>T (p.Asn1332Tyr) c.3511A>T (p.Asn1171Tyr) c.3241A>T (p.Asn1081Tyr) n.3905A>T n.3890A>T n.4806A>T | |
1 | g.5863991T>C | CA338049144 | NPHP4 | c.4039A>G (p.Asn1347Asp) n.3190A>G c.*2940A>G (n.*2940A>G) n.2787A>G n.3771A>G c.*1850A>G (n.*1850A>G) c.2500A>G (p.Asn834Asp) c.2503A>G (p.Asn835Asp) n.4854A>G c.4036A>G (p.Asn1346Asp) c.3997A>G (p.Asn1333Asp) c.3928A>G (p.Asn1310Asp) c.3985A>G (p.Asn1329Asp) c.3994A>G (p.Asn1332Asp) c.3511A>G (p.Asn1171Asp) c.3241A>G (p.Asn1081Asp) n.3905A>G n.3890A>G n.4806A>G | COSMIC |
1 | g.5863991T>G | CA338049146 | NPHP4 | c.4039A>C (p.Asn1347His) n.3190A>C c.*2940A>C (n.*2940A>C) n.2787A>C n.3771A>C c.*1850A>C (n.*1850A>C) c.2500A>C (p.Asn834His) c.2503A>C (p.Asn835His) n.4854A>C c.4036A>C (p.Asn1346His) c.3997A>C (p.Asn1333His) c.3928A>C (p.Asn1310His) c.3985A>C (p.Asn1329His) c.3994A>C (p.Asn1332His) c.3511A>C (p.Asn1171His) c.3241A>C (p.Asn1081His) n.3905A>C n.3890A>C n.4806A>C | |
1 | g.5863992G>A | CA415787030 | NPHP4 | c.4038C>T (p.Val1346=) n.3189C>T c.*2939C>T (n.*2939C>T) n.2786C>T n.3770C>T c.*1849C>T (n.*1849C>T) c.2499C>T (p.Val833=) c.2502C>T (p.Val834=) n.4853C>T c.4035C>T (p.Val1345=) c.3996C>T (p.Val1332=) c.3927C>T (p.Val1309=) c.3984C>T (p.Val1328=) c.3993C>T (p.Val1331=) c.3510C>T (p.Val1170=) c.3240C>T (p.Val1080=) n.3904C>T n.3889C>T n.4805C>T | |
1 | g.5863992G>C | CA415787031 | NPHP4 | c.4038C>G (p.Val1346=) n.3189C>G c.*2939C>G (n.*2939C>G) n.2786C>G n.3770C>G c.*1849C>G (n.*1849C>G) c.2499C>G (p.Val833=) c.2502C>G (p.Val834=) n.4853C>G c.4035C>G (p.Val1345=) c.3996C>G (p.Val1332=) c.3927C>G (p.Val1309=) c.3984C>G (p.Val1328=) c.3993C>G (p.Val1331=) c.3510C>G (p.Val1170=) c.3240C>G (p.Val1080=) n.3904C>G n.3889C>G n.4805C>G | |
1 | g.5863992G>T | CA415787032 | NPHP4 | c.4038C>A (p.Val1346=) n.3189C>A c.*2939C>A (n.*2939C>A) n.2786C>A n.3770C>A c.*1849C>A (n.*1849C>A) c.2499C>A (p.Val833=) c.2502C>A (p.Val834=) n.4853C>A c.4035C>A (p.Val1345=) c.3996C>A (p.Val1332=) c.3927C>A (p.Val1309=) c.3984C>A (p.Val1328=) c.3993C>A (p.Val1331=) c.3510C>A (p.Val1170=) c.3240C>A (p.Val1080=) n.3904C>A n.3889C>A n.4805C>A | |
1 | g.5863992_5863999delinsGACACCCT | CA1151209259 | NPHP4 | c.4031_4038delinsAGGGTGTC (p.Lys1344=) n.3182_3189delinsAGGGTGTC c.*2932_*2939delinsAGGGTGTC (n.*2932_*2939delinsAGGGTGTC) n.2779_2786delinsAGGGTGTC n.3763_3770delinsAGGGTGTC c.*1842_*1849delinsAGGGTGTC (n.*1842_*1849delinsAGGGTGTC) c.2492_2499delinsAGGGTGTC (p.Lys831=) c.2495_2502delinsAGGGTGTC (p.Lys832=) n.4846_4853delinsAGGGTGTC c.4028_4035delinsAGGGTGTC (p.Lys1343=) c.3989_3996delinsAGGGTGTC (p.Lys1330=) c.3920_3927delinsAGGGTGTC (p.Lys1307=) c.3977_3984delinsAGGGTGTC (p.Lys1326=) c.3986_3993delinsAGGGTGTC (p.Lys1329=) c.3503_3510delinsAGGGTGTC (p.Lys1168=) c.3233_3240delinsAGGGTGTC (p.Lys1078=) n.3897_3904delinsAGGGTGTC n.3882_3889delinsAGGGTGTC n.4798_4805delinsAGGGTGTC | |
1 | g.5863993A>C | CA338049151 | NPHP4 | c.4037T>G (p.Val1346Gly) n.3188T>G c.*2938T>G (n.*2938T>G) n.2785T>G n.3769T>G c.*1848T>G (n.*1848T>G) c.2498T>G (p.Val833Gly) c.2501T>G (p.Val834Gly) n.4852T>G c.4034T>G (p.Val1345Gly) c.3995T>G (p.Val1332Gly) c.3926T>G (p.Val1309Gly) c.3983T>G (p.Val1328Gly) c.3992T>G (p.Val1331Gly) c.3509T>G (p.Val1170Gly) c.3239T>G (p.Val1080Gly) n.3903T>G n.3888T>G n.4804T>G | |
1 | g.5863993A>G | CA338049148 | NPHP4 | c.4037T>C (p.Val1346Ala) n.3188T>C c.*2938T>C (n.*2938T>C) n.2785T>C n.3769T>C c.*1848T>C (n.*1848T>C) c.2498T>C (p.Val833Ala) c.2501T>C (p.Val834Ala) n.4852T>C c.4034T>C (p.Val1345Ala) c.3995T>C (p.Val1332Ala) c.3926T>C (p.Val1309Ala) c.3983T>C (p.Val1328Ala) c.3992T>C (p.Val1331Ala) c.3509T>C (p.Val1170Ala) c.3239T>C (p.Val1080Ala) n.3903T>C n.3888T>C n.4804T>C | |
1 | g.5863993A>T | CA338049150 | NPHP4 | c.4037T>A (p.Val1346Asp) n.3188T>A c.*2938T>A (n.*2938T>A) n.2785T>A n.3769T>A c.*1848T>A (n.*1848T>A) c.2498T>A (p.Val833Asp) c.2501T>A (p.Val834Asp) n.4852T>A c.4034T>A (p.Val1345Asp) c.3995T>A (p.Val1332Asp) c.3926T>A (p.Val1309Asp) c.3983T>A (p.Val1328Asp) c.3992T>A (p.Val1331Asp) c.3509T>A (p.Val1170Asp) c.3239T>A (p.Val1080Asp) n.3903T>A n.3888T>A n.4804T>A | |
1 | g.5863993_5863999del | CA913189285 | NPHP4 | c.4031_4037del (p.Lys1344ThrfsTer?) n.3182_3188del c.*2932_*2938del (n.*2932_*2938del) n.2779_2785del n.3763_3769del c.*1842_*1848del (n.*1842_*1848del) c.2492_2498del (p.Lys831ThrfsTer?) c.2495_2501del (p.Lys832ThrfsTer?) n.4846_4852del c.4028_4034del (p.Lys1343ThrfsTer?) c.3989_3995del (p.Lys1330ThrfsTer?) c.3920_3926del (p.Lys1307ThrfsTer?) c.3977_3983del (p.Lys1326ThrfsTer?) c.3986_3992del (p.Lys1329ThrfsTer?) c.3503_3509del (p.Lys1168ThrfsTer?) c.3233_3239del (p.Lys1078ThrfsTer?) n.3897_3903del n.3882_3888del n.4798_4804del | ClinVar dbSNP |
1 | g.5863994C>A | CA338049154 | NPHP4 | c.4036G>T (p.Val1346Phe) n.3187G>T c.*2937G>T (n.*2937G>T) n.2784G>T n.3768G>T c.*1847G>T (n.*1847G>T) c.2497G>T (p.Val833Phe) c.2500G>T (p.Val834Phe) n.4851G>T c.4033G>T (p.Val1345Phe) c.3994G>T (p.Val1332Phe) c.3925G>T (p.Val1309Phe) c.3982G>T (p.Val1328Phe) c.3991G>T (p.Val1331Phe) c.3508G>T (p.Val1170Phe) c.3238G>T (p.Val1080Phe) n.3902G>T n.3887G>T n.4803G>T | |
1 | g.5863994C>G | CA338049155 | NPHP4 | c.4036G>C (p.Val1346Leu) n.3187G>C c.*2937G>C (n.*2937G>C) n.2784G>C n.3768G>C c.*1847G>C (n.*1847G>C) c.2497G>C (p.Val833Leu) c.2500G>C (p.Val834Leu) n.4851G>C c.4033G>C (p.Val1345Leu) c.3994G>C (p.Val1332Leu) c.3925G>C (p.Val1309Leu) c.3982G>C (p.Val1328Leu) c.3991G>C (p.Val1331Leu) c.3508G>C (p.Val1170Leu) c.3238G>C (p.Val1080Leu) n.3902G>C n.3887G>C n.4803G>C | |
1 | g.5863994C>T | CA338049157 | NPHP4 | c.4036G>A (p.Val1346Ile) n.3187G>A c.*2937G>A (n.*2937G>A) n.2784G>A n.3768G>A c.*1847G>A (n.*1847G>A) c.2497G>A (p.Val833Ile) c.2500G>A (p.Val834Ile) n.4851G>A c.4033G>A (p.Val1345Ile) c.3994G>A (p.Val1332Ile) c.3925G>A (p.Val1309Ile) c.3982G>A (p.Val1328Ile) c.3991G>A (p.Val1331Ile) c.3508G>A (p.Val1170Ile) c.3238G>A (p.Val1080Ile) n.3902G>A n.3887G>A n.4803G>A | gnomAD v4 |
1 | g.5863995A>C | CA415787033 | NPHP4 | c.4035T>G (p.Gly1345=) n.3186T>G c.*2936T>G (n.*2936T>G) n.2783T>G n.3767T>G c.*1846T>G (n.*1846T>G) c.2496T>G (p.Gly832=) c.2499T>G (p.Gly833=) n.4850T>G c.4032T>G (p.Gly1344=) c.3993T>G (p.Gly1331=) c.3924T>G (p.Gly1308=) c.3981T>G (p.Gly1327=) c.3990T>G (p.Gly1330=) c.3507T>G (p.Gly1169=) c.3237T>G (p.Gly1079=) n.3901T>G n.3886T>G n.4802T>G | |
1 | g.5863995A>G | CA415787034 | NPHP4 | c.4035T>C (p.Gly1345=) n.3186T>C c.*2936T>C (n.*2936T>C) n.2783T>C n.3767T>C c.*1846T>C (n.*1846T>C) c.2496T>C (p.Gly832=) c.2499T>C (p.Gly833=) n.4850T>C c.4032T>C (p.Gly1344=) c.3993T>C (p.Gly1331=) c.3924T>C (p.Gly1308=) c.3981T>C (p.Gly1327=) c.3990T>C (p.Gly1330=) c.3507T>C (p.Gly1169=) c.3237T>C (p.Gly1079=) n.3901T>C n.3886T>C n.4802T>C | |
1 | g.5863995A>T | CA415787035 | NPHP4 | c.4035T>A (p.Gly1345=) n.3186T>A c.*2936T>A (n.*2936T>A) n.2783T>A n.3767T>A c.*1846T>A (n.*1846T>A) c.2496T>A (p.Gly832=) c.2499T>A (p.Gly833=) n.4850T>A c.4032T>A (p.Gly1344=) c.3993T>A (p.Gly1331=) c.3924T>A (p.Gly1308=) c.3981T>A (p.Gly1327=) c.3990T>A (p.Gly1330=) c.3507T>A (p.Gly1169=) c.3237T>A (p.Gly1079=) n.3901T>A n.3886T>A n.4802T>A | |
1 | g.5863996C>A | CA338049159 | NPHP4 | c.4034G>T (p.Gly1345Val) n.3185G>T c.*2935G>T (n.*2935G>T) n.2782G>T n.3766G>T c.*1845G>T (n.*1845G>T) c.2495G>T (p.Gly832Val) c.2498G>T (p.Gly833Val) n.4849G>T c.4031G>T (p.Gly1344Val) c.3992G>T (p.Gly1331Val) c.3923G>T (p.Gly1308Val) c.3980G>T (p.Gly1327Val) c.3989G>T (p.Gly1330Val) c.3506G>T (p.Gly1169Val) c.3236G>T (p.Gly1079Val) n.3900G>T n.3885G>T n.4801G>T | gnomAD v4 |
1 | g.5863996C= | CA1143414655 | NPHP4 | c.4034G= (p.Gly1345=) n.3185G= c.*2935G= (n.*2935G=) n.2782G= n.3766G= c.*1845G= (n.*1845G=) c.2495G= (p.Gly832=) c.2498G= (p.Gly833=) n.4849G= c.4031G= (p.Gly1344=) c.3992G= (p.Gly1331=) c.3923G= (p.Gly1308=) c.3980G= (p.Gly1327=) c.3989G= (p.Gly1330=) c.3506G= (p.Gly1169=) c.3236G= (p.Gly1079=) n.3900G= n.3885G= n.4801G= | |
1 | g.5863996C>G | CA338049160 | NPHP4 | c.4034G>C (p.Gly1345Ala) n.3185G>C c.*2935G>C (n.*2935G>C) n.2782G>C n.3766G>C c.*1845G>C (n.*1845G>C) c.2495G>C (p.Gly832Ala) c.2498G>C (p.Gly833Ala) n.4849G>C c.4031G>C (p.Gly1344Ala) c.3992G>C (p.Gly1331Ala) c.3923G>C (p.Gly1308Ala) c.3980G>C (p.Gly1327Ala) c.3989G>C (p.Gly1330Ala) c.3506G>C (p.Gly1169Ala) c.3236G>C (p.Gly1079Ala) n.3900G>C n.3885G>C n.4801G>C | |
1 | g.5863996C>T | CA553371 | NPHP4 | c.4034G>A (p.Gly1345Asp) n.3185G>A c.*2935G>A (n.*2935G>A) n.2782G>A n.3766G>A c.*1845G>A (n.*1845G>A) c.2495G>A (p.Gly832Asp) c.2498G>A (p.Gly833Asp) n.4849G>A c.4031G>A (p.Gly1344Asp) c.3992G>A (p.Gly1331Asp) c.3923G>A (p.Gly1308Asp) c.3980G>A (p.Gly1327Asp) c.3989G>A (p.Gly1330Asp) c.3506G>A (p.Gly1169Asp) c.3236G>A (p.Gly1079Asp) n.3900G>A n.3885G>A n.4801G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863997C>A | CA338049162 | NPHP4 | c.4033G>T (p.Gly1345Cys) n.3184G>T c.*2934G>T (n.*2934G>T) n.2781G>T n.3765G>T c.*1844G>T (n.*1844G>T) c.2494G>T (p.Gly832Cys) c.2497G>T (p.Gly833Cys) n.4848G>T c.4030G>T (p.Gly1344Cys) c.3991G>T (p.Gly1331Cys) c.3922G>T (p.Gly1308Cys) c.3979G>T (p.Gly1327Cys) c.3988G>T (p.Gly1330Cys) c.3505G>T (p.Gly1169Cys) c.3235G>T (p.Gly1079Cys) n.3899G>T n.3884G>T n.4800G>T | gnomAD v4 |
1 | g.5863997C= | CA1151209266 | NPHP4 | c.4033G= (p.Gly1345=) n.3184G= c.*2934G= (n.*2934G=) n.2781G= n.3765G= c.*1844G= (n.*1844G=) c.2494G= (p.Gly832=) c.2497G= (p.Gly833=) n.4848G= c.4030G= (p.Gly1344=) c.3991G= (p.Gly1331=) c.3922G= (p.Gly1308=) c.3979G= (p.Gly1327=) c.3988G= (p.Gly1330=) c.3505G= (p.Gly1169=) c.3235G= (p.Gly1079=) n.3899G= n.3884G= n.4800G= | |
1 | g.5863997C>G | CA338049164 | NPHP4 | c.4033G>C (p.Gly1345Arg) n.3184G>C c.*2934G>C (n.*2934G>C) n.2781G>C n.3765G>C c.*1844G>C (n.*1844G>C) c.2494G>C (p.Gly832Arg) c.2497G>C (p.Gly833Arg) n.4848G>C c.4030G>C (p.Gly1344Arg) c.3991G>C (p.Gly1331Arg) c.3922G>C (p.Gly1308Arg) c.3979G>C (p.Gly1327Arg) c.3988G>C (p.Gly1330Arg) c.3505G>C (p.Gly1169Arg) c.3235G>C (p.Gly1079Arg) n.3899G>C n.3884G>C n.4800G>C | |
1 | g.5863997C>T | CA338049165 | NPHP4 | c.4033G>A (p.Gly1345Ser) n.3184G>A c.*2934G>A (n.*2934G>A) n.2781G>A n.3765G>A c.*1844G>A (n.*1844G>A) c.2494G>A (p.Gly832Ser) c.2497G>A (p.Gly833Ser) n.4848G>A c.4030G>A (p.Gly1344Ser) c.3991G>A (p.Gly1331Ser) c.3922G>A (p.Gly1308Ser) c.3979G>A (p.Gly1327Ser) c.3988G>A (p.Gly1330Ser) c.3505G>A (p.Gly1169Ser) c.3235G>A (p.Gly1079Ser) n.3899G>A n.3884G>A n.4800G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863998C>A | CA338049167 | NPHP4 | c.4032G>T (p.Lys1344Asn) n.3183G>T c.*2933G>T (n.*2933G>T) n.2780G>T n.3764G>T c.*1843G>T (n.*1843G>T) c.2493G>T (p.Lys831Asn) c.2496G>T (p.Lys832Asn) n.4847G>T c.4029G>T (p.Lys1343Asn) c.3990G>T (p.Lys1330Asn) c.3921G>T (p.Lys1307Asn) c.3978G>T (p.Lys1326Asn) c.3987G>T (p.Lys1329Asn) c.3504G>T (p.Lys1168Asn) c.3234G>T (p.Lys1078Asn) n.3898G>T n.3883G>T n.4799G>T | |
1 | g.5863998C= | CA1149134201 | NPHP4 | c.4032G= (p.Lys1344=) n.3183G= c.*2933G= (n.*2933G=) n.2780G= n.3764G= c.*1843G= (n.*1843G=) c.2493G= (p.Lys831=) c.2496G= (p.Lys832=) n.4847G= c.4029G= (p.Lys1343=) c.3990G= (p.Lys1330=) c.3921G= (p.Lys1307=) c.3978G= (p.Lys1326=) c.3987G= (p.Lys1329=) c.3504G= (p.Lys1168=) c.3234G= (p.Lys1078=) n.3898G= n.3883G= n.4799G= | |
1 | g.5863998C>G | CA338049170 | NPHP4 | c.4032G>C (p.Lys1344Asn) n.3183G>C c.*2933G>C (n.*2933G>C) n.2780G>C n.3764G>C c.*1843G>C (n.*1843G>C) c.2493G>C (p.Lys831Asn) c.2496G>C (p.Lys832Asn) n.4847G>C c.4029G>C (p.Lys1343Asn) c.3990G>C (p.Lys1330Asn) c.3921G>C (p.Lys1307Asn) c.3978G>C (p.Lys1326Asn) c.3987G>C (p.Lys1329Asn) c.3504G>C (p.Lys1168Asn) c.3234G>C (p.Lys1078Asn) n.3898G>C n.3883G>C n.4799G>C | |
1 | g.5863998C>T | CA553372 | NPHP4 | c.4032G>A (p.Lys1344=) n.3183G>A c.*2933G>A (n.*2933G>A) n.2780G>A n.3764G>A c.*1843G>A (n.*1843G>A) c.2493G>A (p.Lys831=) c.2496G>A (p.Lys832=) n.4847G>A c.4029G>A (p.Lys1343=) c.3990G>A (p.Lys1330=) c.3921G>A (p.Lys1307=) c.3978G>A (p.Lys1326=) c.3987G>A (p.Lys1329=) c.3504G>A (p.Lys1168=) c.3234G>A (p.Lys1078=) n.3898G>A n.3883G>A n.4799G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863999T>A | CA338049173 | NPHP4 | c.4031A>T (p.Lys1344Met) n.3182A>T c.*2932A>T (n.*2932A>T) n.2779A>T n.3763A>T c.*1842A>T (n.*1842A>T) c.2492A>T (p.Lys831Met) c.2495A>T (p.Lys832Met) n.4846A>T c.4028A>T (p.Lys1343Met) c.3989A>T (p.Lys1330Met) c.3920A>T (p.Lys1307Met) c.3977A>T (p.Lys1326Met) c.3986A>T (p.Lys1329Met) c.3503A>T (p.Lys1168Met) c.3233A>T (p.Lys1078Met) n.3897A>T n.3882A>T n.4798A>T | |
1 | g.5863999T>C | CA338049176 | NPHP4 | c.4031A>G (p.Lys1344Arg) n.3182A>G c.*2932A>G (n.*2932A>G) n.2779A>G n.3763A>G c.*1842A>G (n.*1842A>G) c.2492A>G (p.Lys831Arg) c.2495A>G (p.Lys832Arg) n.4846A>G c.4028A>G (p.Lys1343Arg) c.3989A>G (p.Lys1330Arg) c.3920A>G (p.Lys1307Arg) c.3977A>G (p.Lys1326Arg) c.3986A>G (p.Lys1329Arg) c.3503A>G (p.Lys1168Arg) c.3233A>G (p.Lys1078Arg) n.3897A>G n.3882A>G n.4798A>G | |
1 | g.5863999T>G | CA338049175 | NPHP4 | c.4031A>C (p.Lys1344Thr) n.3182A>C c.*2932A>C (n.*2932A>C) n.2779A>C n.3763A>C c.*1842A>C (n.*1842A>C) c.2492A>C (p.Lys831Thr) c.2495A>C (p.Lys832Thr) n.4846A>C c.4028A>C (p.Lys1343Thr) c.3989A>C (p.Lys1330Thr) c.3920A>C (p.Lys1307Thr) c.3977A>C (p.Lys1326Thr) c.3986A>C (p.Lys1329Thr) c.3503A>C (p.Lys1168Thr) c.3233A>C (p.Lys1078Thr) n.3897A>C n.3882A>C n.4798A>C | |
1 | g.5864000T>A | CA338049177 | NPHP4 | c.4030A>T (p.Lys1344Ter) n.3181A>T c.*2931A>T (n.*2931A>T) n.2778A>T n.3762A>T c.*1841A>T (n.*1841A>T) c.2491A>T (p.Lys831Ter) c.2494A>T (p.Lys832Ter) n.4845A>T c.4027A>T (p.Lys1343Ter) c.3988A>T (p.Lys1330Ter) c.3919A>T (p.Lys1307Ter) c.3976A>T (p.Lys1326Ter) c.3985A>T (p.Lys1329Ter) c.3502A>T (p.Lys1168Ter) c.3232A>T (p.Lys1078Ter) n.3896A>T n.3881A>T n.4797A>T | |
1 | g.5864000T>C | CA338049178 | NPHP4 | c.4030A>G (p.Lys1344Glu) n.3181A>G c.*2931A>G (n.*2931A>G) n.2778A>G n.3762A>G c.*1841A>G (n.*1841A>G) c.2491A>G (p.Lys831Glu) c.2494A>G (p.Lys832Glu) n.4845A>G c.4027A>G (p.Lys1343Glu) c.3988A>G (p.Lys1330Glu) c.3919A>G (p.Lys1307Glu) c.3976A>G (p.Lys1326Glu) c.3985A>G (p.Lys1329Glu) c.3502A>G (p.Lys1168Glu) c.3232A>G (p.Lys1078Glu) n.3896A>G n.3881A>G n.4797A>G | |
1 | g.5864000T>G | CA338049179 | NPHP4 | c.4030A>C (p.Lys1344Gln) n.3181A>C c.*2931A>C (n.*2931A>C) n.2778A>C n.3762A>C c.*1841A>C (n.*1841A>C) c.2491A>C (p.Lys831Gln) c.2494A>C (p.Lys832Gln) n.4845A>C c.4027A>C (p.Lys1343Gln) c.3988A>C (p.Lys1330Gln) c.3919A>C (p.Lys1307Gln) c.3976A>C (p.Lys1326Gln) c.3985A>C (p.Lys1329Gln) c.3502A>C (p.Lys1168Gln) c.3232A>C (p.Lys1078Gln) n.3896A>C n.3881A>C n.4797A>C | |
1 | g.5864001C>A | CA415787038 | NPHP4 | c.4029G>T (p.Gly1343=) n.3180G>T c.*2930G>T (n.*2930G>T) n.2777G>T n.3761G>T c.*1840G>T (n.*1840G>T) c.2490G>T (p.Gly830=) c.2493G>T (p.Gly831=) n.4844G>T c.4026G>T (p.Gly1342=) c.3987G>T (p.Gly1329=) c.3918G>T (p.Gly1306=) c.3975G>T (p.Gly1325=) c.3984G>T (p.Gly1328=) c.3501G>T (p.Gly1167=) c.3231G>T (p.Gly1077=) n.3895G>T n.3880G>T n.4796G>T | |
1 | g.5864001C>G | CA415787036 | NPHP4 | c.4029G>C (p.Gly1343=) n.3180G>C c.*2930G>C (n.*2930G>C) n.2777G>C n.3761G>C c.*1840G>C (n.*1840G>C) c.2490G>C (p.Gly830=) c.2493G>C (p.Gly831=) n.4844G>C c.4026G>C (p.Gly1342=) c.3987G>C (p.Gly1329=) c.3918G>C (p.Gly1306=) c.3975G>C (p.Gly1325=) c.3984G>C (p.Gly1328=) c.3501G>C (p.Gly1167=) c.3231G>C (p.Gly1077=) n.3895G>C n.3880G>C n.4796G>C | gnomAD v4 |
1 | g.5864001C>T | CA415787037 | NPHP4 | c.4029G>A (p.Gly1343=) n.3180G>A c.*2930G>A (n.*2930G>A) n.2777G>A n.3761G>A c.*1840G>A (n.*1840G>A) c.2490G>A (p.Gly830=) c.2493G>A (p.Gly831=) n.4844G>A c.4026G>A (p.Gly1342=) c.3987G>A (p.Gly1329=) c.3918G>A (p.Gly1306=) c.3975G>A (p.Gly1325=) c.3984G>A (p.Gly1328=) c.3501G>A (p.Gly1167=) c.3231G>A (p.Gly1077=) n.3895G>A n.3880G>A n.4796G>A | gnomAD v4 |
1 | g.5864002C>A | CA338049181 | NPHP4 | c.4028G>T (p.Gly1343Val) n.3179G>T c.*2929G>T (n.*2929G>T) n.2776G>T n.3760G>T c.*1839G>T (n.*1839G>T) c.2489G>T (p.Gly830Val) c.2492G>T (p.Gly831Val) n.4843G>T c.4025G>T (p.Gly1342Val) c.3986G>T (p.Gly1329Val) c.3917G>T (p.Gly1306Val) c.3974G>T (p.Gly1325Val) c.3983G>T (p.Gly1328Val) c.3500G>T (p.Gly1167Val) c.3230G>T (p.Gly1077Val) n.3894G>T n.3879G>T n.4795G>T | |
1 | g.5864002C= | CA1151209269 | NPHP4 | c.4028G= (p.Gly1343=) n.3179G= c.*2929G= (n.*2929G=) n.2776G= n.3760G= c.*1839G= (n.*1839G=) c.2489G= (p.Gly830=) c.2492G= (p.Gly831=) n.4843G= c.4025G= (p.Gly1342=) c.3986G= (p.Gly1329=) c.3917G= (p.Gly1306=) c.3974G= (p.Gly1325=) c.3983G= (p.Gly1328=) c.3500G= (p.Gly1167=) c.3230G= (p.Gly1077=) n.3894G= n.3879G= n.4795G= | |
1 | g.5864002C>G | CA338049183 | NPHP4 | c.4028G>C (p.Gly1343Ala) n.3179G>C c.*2929G>C (n.*2929G>C) n.2776G>C n.3760G>C c.*1839G>C (n.*1839G>C) c.2489G>C (p.Gly830Ala) c.2492G>C (p.Gly831Ala) n.4843G>C c.4025G>C (p.Gly1342Ala) c.3986G>C (p.Gly1329Ala) c.3917G>C (p.Gly1306Ala) c.3974G>C (p.Gly1325Ala) c.3983G>C (p.Gly1328Ala) c.3500G>C (p.Gly1167Ala) c.3230G>C (p.Gly1077Ala) n.3894G>C n.3879G>C n.4795G>C | |
1 | g.5864002C>T | CA338049185 | NPHP4 | c.4028G>A (p.Gly1343Glu) n.3179G>A c.*2929G>A (n.*2929G>A) n.2776G>A n.3760G>A c.*1839G>A (n.*1839G>A) c.2489G>A (p.Gly830Glu) c.2492G>A (p.Gly831Glu) n.4843G>A c.4025G>A (p.Gly1342Glu) c.3986G>A (p.Gly1329Glu) c.3917G>A (p.Gly1306Glu) c.3974G>A (p.Gly1325Glu) c.3983G>A (p.Gly1328Glu) c.3500G>A (p.Gly1167Glu) c.3230G>A (p.Gly1077Glu) n.3894G>A n.3879G>A n.4795G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.5864003C>A | CA338049187 | NPHP4 | c.4027G>T (p.Gly1343Trp) n.3178G>T c.*2928G>T (n.*2928G>T) n.2775G>T n.3759G>T c.*1838G>T (n.*1838G>T) c.2488G>T (p.Gly830Trp) c.2491G>T (p.Gly831Trp) n.4842G>T c.4024G>T (p.Gly1342Trp) c.3985G>T (p.Gly1329Trp) c.3916G>T (p.Gly1306Trp) c.3973G>T (p.Gly1325Trp) c.3982G>T (p.Gly1328Trp) c.3499G>T (p.Gly1167Trp) c.3229G>T (p.Gly1077Trp) n.3893G>T n.3878G>T n.4794G>T | |
1 | g.5864003C>G | CA338049189 | NPHP4 | c.4027G>C (p.Gly1343Arg) n.3178G>C c.*2928G>C (n.*2928G>C) n.2775G>C n.3759G>C c.*1838G>C (n.*1838G>C) c.2488G>C (p.Gly830Arg) c.2491G>C (p.Gly831Arg) n.4842G>C c.4024G>C (p.Gly1342Arg) c.3985G>C (p.Gly1329Arg) c.3916G>C (p.Gly1306Arg) c.3973G>C (p.Gly1325Arg) c.3982G>C (p.Gly1328Arg) c.3499G>C (p.Gly1167Arg) c.3229G>C (p.Gly1077Arg) n.3893G>C n.3878G>C n.4794G>C | |
1 | g.5864003C>T | CA338049190 | NPHP4 | c.4027G>A (p.Gly1343Arg) n.3178G>A c.*2928G>A (n.*2928G>A) n.2775G>A n.3759G>A c.*1838G>A (n.*1838G>A) c.2488G>A (p.Gly830Arg) c.2491G>A (p.Gly831Arg) n.4842G>A c.4024G>A (p.Gly1342Arg) c.3985G>A (p.Gly1329Arg) c.3916G>A (p.Gly1306Arg) c.3973G>A (p.Gly1325Arg) c.3982G>A (p.Gly1328Arg) c.3499G>A (p.Gly1167Arg) c.3229G>A (p.Gly1077Arg) n.3893G>A n.3878G>A n.4794G>A | gnomAD v4 |
1 | g.5864004T>A | CA338049192 | NPHP4 | c.4026A>T (p.Glu1342Asp) n.3177A>T c.*2927A>T (n.*2927A>T) n.2774A>T n.3758A>T c.*1837A>T (n.*1837A>T) c.2487A>T (p.Glu829Asp) c.2490A>T (p.Glu830Asp) n.4841A>T c.4023A>T (p.Glu1341Asp) c.3984A>T (p.Glu1328Asp) c.3915A>T (p.Glu1305Asp) c.3972A>T (p.Glu1324Asp) c.3981A>T (p.Glu1327Asp) c.3498A>T (p.Glu1166Asp) c.3228A>T (p.Glu1076Asp) n.3892A>T n.3877A>T n.4793A>T | |
1 | g.5864004T>C | CA17124865 | NPHP4 | c.4026A>G (p.Glu1342=) n.3177A>G c.*2927A>G (n.*2927A>G) n.2774A>G n.3758A>G c.*1837A>G (n.*1837A>G) c.2487A>G (p.Glu829=) c.2490A>G (p.Glu830=) n.4841A>G c.4023A>G (p.Glu1341=) c.3984A>G (p.Glu1328=) c.3915A>G (p.Glu1305=) c.3972A>G (p.Glu1324=) c.3981A>G (p.Glu1327=) c.3498A>G (p.Glu1166=) c.3228A>G (p.Glu1076=) n.3892A>G n.3877A>G n.4793A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.5864004T>G | CA338049194 | NPHP4 | c.4026A>C (p.Glu1342Asp) n.3177A>C c.*2927A>C (n.*2927A>C) n.2774A>C n.3758A>C c.*1837A>C (n.*1837A>C) c.2487A>C (p.Glu829Asp) c.2490A>C (p.Glu830Asp) n.4841A>C c.4023A>C (p.Glu1341Asp) c.3984A>C (p.Glu1328Asp) c.3915A>C (p.Glu1305Asp) c.3972A>C (p.Glu1324Asp) c.3981A>C (p.Glu1327Asp) c.3498A>C (p.Glu1166Asp) c.3228A>C (p.Glu1076Asp) n.3892A>C n.3877A>C n.4793A>C | |
1 | g.5864004T= | CA1151209270 | NPHP4 | c.4026A= (p.Glu1342=) n.3177A= c.*2927A= (n.*2927A=) n.2774A= n.3758A= c.*1837A= (n.*1837A=) c.2487A= (p.Glu829=) c.2490A= (p.Glu830=) n.4841A= c.4023A= (p.Glu1341=) c.3984A= (p.Glu1328=) c.3915A= (p.Glu1305=) c.3972A= (p.Glu1324=) c.3981A= (p.Glu1327=) c.3498A= (p.Glu1166=) c.3228A= (p.Glu1076=) n.3892A= n.3877A= n.4793A= | |
1 | g.5864005T>A | CA338049200 | NPHP4 | c.4025A>T (p.Glu1342Val) n.3176A>T c.*2926A>T (n.*2926A>T) n.2773A>T n.3757A>T c.*1836A>T (n.*1836A>T) c.2486A>T (p.Glu829Val) c.2489A>T (p.Glu830Val) n.4840A>T c.4022A>T (p.Glu1341Val) c.3983A>T (p.Glu1328Val) c.3914A>T (p.Glu1305Val) c.3971A>T (p.Glu1324Val) c.3980A>T (p.Glu1327Val) c.3497A>T (p.Glu1166Val) c.3227A>T (p.Glu1076Val) n.3891A>T n.3876A>T n.4792A>T | |
1 | g.5864005T>C | CA338049199 | NPHP4 | c.4025A>G (p.Glu1342Gly) n.3176A>G c.*2926A>G (n.*2926A>G) n.2773A>G n.3757A>G c.*1836A>G (n.*1836A>G) c.2486A>G (p.Glu829Gly) c.2489A>G (p.Glu830Gly) n.4840A>G c.4022A>G (p.Glu1341Gly) c.3983A>G (p.Glu1328Gly) c.3914A>G (p.Glu1305Gly) c.3971A>G (p.Glu1324Gly) c.3980A>G (p.Glu1327Gly) c.3497A>G (p.Glu1166Gly) c.3227A>G (p.Glu1076Gly) n.3891A>G n.3876A>G n.4792A>G | |
1 | g.5864005T>G | CA338049197 | NPHP4 | c.4025A>C (p.Glu1342Ala) n.3176A>C c.*2926A>C (n.*2926A>C) n.2773A>C n.3757A>C c.*1836A>C (n.*1836A>C) c.2486A>C (p.Glu829Ala) c.2489A>C (p.Glu830Ala) n.4840A>C c.4022A>C (p.Glu1341Ala) c.3983A>C (p.Glu1328Ala) c.3914A>C (p.Glu1305Ala) c.3971A>C (p.Glu1324Ala) c.3980A>C (p.Glu1327Ala) c.3497A>C (p.Glu1166Ala) c.3227A>C (p.Glu1076Ala) n.3891A>C n.3876A>C n.4792A>C | |
1 | g.5864006C>A | CA553373 | NPHP4 | c.4024G>T (p.Glu1342Ter) n.3175G>T c.*2925G>T (n.*2925G>T) n.2772G>T n.3756G>T c.*1835G>T (n.*1835G>T) c.2485G>T (p.Glu829Ter) c.2488G>T (p.Glu830Ter) n.4839G>T c.4021G>T (p.Glu1341Ter) c.3982G>T (p.Glu1328Ter) c.3913G>T (p.Glu1305Ter) c.3970G>T (p.Glu1324Ter) c.3979G>T (p.Glu1327Ter) c.3496G>T (p.Glu1166Ter) c.3226G>T (p.Glu1076Ter) n.3890G>T n.3875G>T n.4791G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5864006C= | CA1151209272 | NPHP4 | c.4024G= (p.Glu1342=) n.3175G= c.*2925G= (n.*2925G=) n.2772G= n.3756G= c.*1835G= (n.*1835G=) c.2485G= (p.Glu829=) c.2488G= (p.Glu830=) n.4839G= c.4021G= (p.Glu1341=) c.3982G= (p.Glu1328=) c.3913G= (p.Glu1305=) c.3970G= (p.Glu1324=) c.3979G= (p.Glu1327=) c.3496G= (p.Glu1166=) c.3226G= (p.Glu1076=) n.3890G= n.3875G= n.4791G= | |
1 | g.5864006C>G | CA338049203 | NPHP4 | c.4024G>C (p.Glu1342Gln) n.3175G>C c.*2925G>C (n.*2925G>C) n.2772G>C n.3756G>C c.*1835G>C (n.*1835G>C) c.2485G>C (p.Glu829Gln) c.2488G>C (p.Glu830Gln) n.4839G>C c.4021G>C (p.Glu1341Gln) c.3982G>C (p.Glu1328Gln) c.3913G>C (p.Glu1305Gln) c.3970G>C (p.Glu1324Gln) c.3979G>C (p.Glu1327Gln) c.3496G>C (p.Glu1166Gln) c.3226G>C (p.Glu1076Gln) n.3890G>C n.3875G>C n.4791G>C | |
1 | g.5864006C>T | CA338049205 | NPHP4 | c.4024G>A (p.Glu1342Lys) n.3175G>A c.*2925G>A (n.*2925G>A) n.2772G>A n.3756G>A c.*1835G>A (n.*1835G>A) c.2485G>A (p.Glu829Lys) c.2488G>A (p.Glu830Lys) n.4839G>A c.4021G>A (p.Glu1341Lys) c.3982G>A (p.Glu1328Lys) c.3913G>A (p.Glu1305Lys) c.3970G>A (p.Glu1324Lys) c.3979G>A (p.Glu1327Lys) c.3496G>A (p.Glu1166Lys) c.3226G>A (p.Glu1076Lys) n.3890G>A n.3875G>A n.4791G>A | ClinVar dbSNP gnomAD v4 |
1 | g.5864007G>A | CA553374 | NPHP4 | c.4023C>T (p.Gly1341=) n.3174C>T c.*2924C>T (n.*2924C>T) n.2771C>T n.3755C>T c.*1834C>T (n.*1834C>T) c.2484C>T (p.Gly828=) c.2487C>T (p.Gly829=) n.4838C>T c.4020C>T (p.Gly1340=) c.3981C>T (p.Gly1327=) c.3912C>T (p.Gly1304=) c.3969C>T (p.Gly1323=) c.3978C>T (p.Gly1326=) c.3495C>T (p.Gly1165=) c.3225C>T (p.Gly1075=) n.3889C>T n.3874C>T n.4790C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5864007G>C | CA415787039 | NPHP4 | c.4023C>G (p.Gly1341=) n.3174C>G c.*2924C>G (n.*2924C>G) n.2771C>G n.3755C>G c.*1834C>G (n.*1834C>G) c.2484C>G (p.Gly828=) c.2487C>G (p.Gly829=) n.4838C>G c.4020C>G (p.Gly1340=) c.3981C>G (p.Gly1327=) c.3912C>G (p.Gly1304=) c.3969C>G (p.Gly1323=) c.3978C>G (p.Gly1326=) c.3495C>G (p.Gly1165=) c.3225C>G (p.Gly1075=) n.3889C>G n.3874C>G n.4790C>G | |
1 | g.5864007G= | CA1151209273 | NPHP4 | c.4023C= (p.Gly1341=) n.3174C= c.*2924C= (n.*2924C=) n.2771C= n.3755C= c.*1834C= (n.*1834C=) c.2484C= (p.Gly828=) c.2487C= (p.Gly829=) n.4838C= c.4020C= (p.Gly1340=) c.3981C= (p.Gly1327=) c.3912C= (p.Gly1304=) c.3969C= (p.Gly1323=) c.3978C= (p.Gly1326=) c.3495C= (p.Gly1165=) c.3225C= (p.Gly1075=) n.3889C= n.3874C= n.4790C= | |
1 | g.5864007G>T | CA415787040 | NPHP4 | c.4023C>A (p.Gly1341=) n.3174C>A c.*2924C>A (n.*2924C>A) n.2771C>A n.3755C>A c.*1834C>A (n.*1834C>A) c.2484C>A (p.Gly828=) c.2487C>A (p.Gly829=) n.4838C>A c.4020C>A (p.Gly1340=) c.3981C>A (p.Gly1327=) c.3912C>A (p.Gly1304=) c.3969C>A (p.Gly1323=) c.3978C>A (p.Gly1326=) c.3495C>A (p.Gly1165=) c.3225C>A (p.Gly1075=) n.3889C>A n.3874C>A n.4790C>A | |
1 | g.5864008C>A | CA338049208 | NPHP4 | c.4022G>T (p.Gly1341Val) n.3173G>T c.*2923G>T (n.*2923G>T) n.2770G>T n.3754G>T c.*1833G>T (n.*1833G>T) c.2483G>T (p.Gly828Val) c.2486G>T (p.Gly829Val) n.4837G>T c.4019G>T (p.Gly1340Val) c.3980G>T (p.Gly1327Val) c.3911G>T (p.Gly1304Val) c.3968G>T (p.Gly1323Val) c.3977G>T (p.Gly1326Val) c.3494G>T (p.Gly1165Val) c.3224G>T (p.Gly1075Val) n.3888G>T n.3873G>T n.4789G>T | gnomAD v4 |
1 | g.5864008C= | CA1151209275 | NPHP4 | c.4022G= (p.Gly1341=) n.3173G= c.*2923G= (n.*2923G=) n.2770G= n.3754G= c.*1833G= (n.*1833G=) c.2483G= (p.Gly828=) c.2486G= (p.Gly829=) n.4837G= c.4019G= (p.Gly1340=) c.3980G= (p.Gly1327=) c.3911G= (p.Gly1304=) c.3968G= (p.Gly1323=) c.3977G= (p.Gly1326=) c.3494G= (p.Gly1165=) c.3224G= (p.Gly1075=) n.3888G= n.3873G= n.4789G= | |
1 | g.5864008C>G | CA553376 | NPHP4 | c.4022G>C (p.Gly1341Ala) n.3173G>C c.*2923G>C (n.*2923G>C) n.2770G>C n.3754G>C c.*1833G>C (n.*1833G>C) c.2483G>C (p.Gly828Ala) c.2486G>C (p.Gly829Ala) n.4837G>C c.4019G>C (p.Gly1340Ala) c.3980G>C (p.Gly1327Ala) c.3911G>C (p.Gly1304Ala) c.3968G>C (p.Gly1323Ala) c.3977G>C (p.Gly1326Ala) c.3494G>C (p.Gly1165Ala) c.3224G>C (p.Gly1075Ala) n.3888G>C n.3873G>C n.4789G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5864008C>T | CA338049211 | NPHP4 | c.4022G>A (p.Gly1341Asp) n.3173G>A c.*2923G>A (n.*2923G>A) n.2770G>A n.3754G>A c.*1833G>A (n.*1833G>A) c.2483G>A (p.Gly828Asp) c.2486G>A (p.Gly829Asp) n.4837G>A c.4019G>A (p.Gly1340Asp) c.3980G>A (p.Gly1327Asp) c.3911G>A (p.Gly1304Asp) c.3968G>A (p.Gly1323Asp) c.3977G>A (p.Gly1326Asp) c.3494G>A (p.Gly1165Asp) c.3224G>A (p.Gly1075Asp) n.3888G>A n.3873G>A n.4789G>A | |
1 | g.5864010dup | CA553375 | NPHP4 | c.4022dup (p.Glu1342ArgfsTer?) n.3173dup c.*2923dup (n.*2923dup) n.2770dup n.3754dup c.*1833dup (n.*1833dup) c.2483dup (p.Glu829ArgfsTer?) c.2486dup (p.Glu830ArgfsTer?) n.4837dup c.4019dup (p.Glu1341ArgfsTer?) c.3980dup (p.Glu1328ArgfsTer?) c.3911dup (p.Glu1305ArgfsTer?) c.3968dup (p.Glu1324ArgfsTer?) c.3977dup (p.Glu1327ArgfsTer?) c.3494dup (p.Glu1166ArgfsTer?) c.3224dup (p.Glu1076ArgfsTer?) n.3888dup n.3873dup n.4789dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5864010del | CA2695247368 | NPHP4 | c.4022del (p.Gly1341AlafsTer?) n.3173del c.*2923del (n.*2923del) n.2770del n.3754del c.*1833del (n.*1833del) c.2483del (p.Gly828AlafsTer?) c.2486del (p.Gly829AlafsTer?) n.4837del c.4019del (p.Gly1340AlafsTer?) c.3980del (p.Gly1327AlafsTer?) c.3911del (p.Gly1304AlafsTer?) c.3968del (p.Gly1323AlafsTer?) c.3977del (p.Gly1326AlafsTer?) c.3494del (p.Gly1165AlafsTer?) c.3224del (p.Gly1075AlafsTer?) n.3888del n.3873del n.4789del | dbSNP |
1 | g.5864009C>A | CA338049213 | NPHP4 | c.4021G>T (p.Gly1341Cys) n.3172G>T c.*2922G>T (n.*2922G>T) n.2769G>T n.3753G>T c.*1832G>T (n.*1832G>T) c.2482G>T (p.Gly828Cys) c.2485G>T (p.Gly829Cys) n.4836G>T c.4018G>T (p.Gly1340Cys) c.3979G>T (p.Gly1327Cys) c.3910G>T (p.Gly1304Cys) c.3967G>T (p.Gly1323Cys) c.3976G>T (p.Gly1326Cys) c.3493G>T (p.Gly1165Cys) c.3223G>T (p.Gly1075Cys) n.3887G>T n.3872G>T n.4788G>T | |
1 | g.5864009C>G | CA338049214 | NPHP4 | c.4021G>C (p.Gly1341Arg) n.3172G>C c.*2922G>C (n.*2922G>C) n.2769G>C n.3753G>C c.*1832G>C (n.*1832G>C) c.2482G>C (p.Gly828Arg) c.2485G>C (p.Gly829Arg) n.4836G>C c.4018G>C (p.Gly1340Arg) c.3979G>C (p.Gly1327Arg) c.3910G>C (p.Gly1304Arg) c.3967G>C (p.Gly1323Arg) c.3976G>C (p.Gly1326Arg) c.3493G>C (p.Gly1165Arg) c.3223G>C (p.Gly1075Arg) n.3887G>C n.3872G>C n.4788G>C | gnomAD v4 |
1 | g.5864009C>T | CA338049215 | NPHP4 | c.4021G>A (p.Gly1341Ser) n.3172G>A c.*2922G>A (n.*2922G>A) n.2769G>A n.3753G>A c.*1832G>A (n.*1832G>A) c.2482G>A (p.Gly828Ser) c.2485G>A (p.Gly829Ser) n.4836G>A c.4018G>A (p.Gly1340Ser) c.3979G>A (p.Gly1327Ser) c.3910G>A (p.Gly1304Ser) c.3967G>A (p.Gly1323Ser) c.3976G>A (p.Gly1326Ser) c.3493G>A (p.Gly1165Ser) c.3223G>A (p.Gly1075Ser) n.3887G>A n.3872G>A n.4788G>A | |
1 | g.5864010C>A | CA415787041 | NPHP4 | c.4020G>T (p.Ala1340=) n.3171G>T c.*2921G>T (n.*2921G>T) n.2768G>T n.3752G>T c.*1831G>T (n.*1831G>T) c.2481G>T (p.Ala827=) c.2484G>T (p.Ala828=) n.4835G>T c.4017G>T (p.Ala1339=) c.3978G>T (p.Ala1326=) c.3909G>T (p.Ala1303=) c.3966G>T (p.Ala1322=) c.3975G>T (p.Ala1325=) c.3492G>T (p.Ala1164=) c.3222G>T (p.Ala1074=) n.3886G>T n.3871G>T n.4787G>T | |
1 | g.5864010C= | CA1151209277 | NPHP4 | c.4020G= (p.Ala1340=) n.3171G= c.*2921G= (n.*2921G=) n.2768G= n.3752G= c.*1831G= (n.*1831G=) c.2481G= (p.Ala827=) c.2484G= (p.Ala828=) n.4835G= c.4017G= (p.Ala1339=) c.3978G= (p.Ala1326=) c.3909G= (p.Ala1303=) c.3966G= (p.Ala1322=) c.3975G= (p.Ala1325=) c.3492G= (p.Ala1164=) c.3222G= (p.Ala1074=) n.3886G= n.3871G= n.4787G= | |
1 | g.5864010C>G | CA415787042 | NPHP4 | c.4020G>C (p.Ala1340=) n.3171G>C c.*2921G>C (n.*2921G>C) n.2768G>C n.3752G>C c.*1831G>C (n.*1831G>C) c.2481G>C (p.Ala827=) c.2484G>C (p.Ala828=) n.4835G>C c.4017G>C (p.Ala1339=) c.3978G>C (p.Ala1326=) c.3909G>C (p.Ala1303=) c.3966G>C (p.Ala1322=) c.3975G>C (p.Ala1325=) c.3492G>C (p.Ala1164=) c.3222G>C (p.Ala1074=) n.3886G>C n.3871G>C n.4787G>C | dbSNP |
1 | g.5864010C>T | CA553377 | NPHP4 | c.4020G>A (p.Ala1340=) n.3171G>A c.*2921G>A (n.*2921G>A) n.2768G>A n.3752G>A c.*1831G>A (n.*1831G>A) c.2481G>A (p.Ala827=) c.2484G>A (p.Ala828=) n.4835G>A c.4017G>A (p.Ala1339=) c.3978G>A (p.Ala1326=) c.3909G>A (p.Ala1303=) c.3966G>A (p.Ala1322=) c.3975G>A (p.Ala1325=) c.3492G>A (p.Ala1164=) c.3222G>A (p.Ala1074=) n.3886G>A n.3871G>A n.4787G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5864011G>A | CA553378 | NPHP4 | c.4019C>T (p.Ala1340Val) n.3170C>T c.*2920C>T (n.*2920C>T) n.2767C>T n.3751C>T c.*1830C>T (n.*1830C>T) c.2480C>T (p.Ala827Val) c.2483C>T (p.Ala828Val) n.4834C>T c.4016C>T (p.Ala1339Val) c.3977C>T (p.Ala1326Val) c.3908C>T (p.Ala1303Val) c.3965C>T (p.Ala1322Val) c.3974C>T (p.Ala1325Val) c.3491C>T (p.Ala1164Val) c.3221C>T (p.Ala1074Val) n.3885C>T n.3870C>T n.4786C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5864011G>C | CA338049223 | NPHP4 | c.4019C>G (p.Ala1340Gly) n.3170C>G c.*2920C>G (n.*2920C>G) n.2767C>G n.3751C>G c.*1830C>G (n.*1830C>G) c.2480C>G (p.Ala827Gly) c.2483C>G (p.Ala828Gly) n.4834C>G c.4016C>G (p.Ala1339Gly) c.3977C>G (p.Ala1326Gly) c.3908C>G (p.Ala1303Gly) c.3965C>G (p.Ala1322Gly) c.3974C>G (p.Ala1325Gly) c.3491C>G (p.Ala1164Gly) c.3221C>G (p.Ala1074Gly) n.3885C>G n.3870C>G n.4786C>G | |
1 | g.5864011G= | CA1143490297 | NPHP4 | c.4019C= (p.Ala1340=) n.3170C= c.*2920C= (n.*2920C=) n.2767C= n.3751C= c.*1830C= (n.*1830C=) c.2480C= (p.Ala827=) c.2483C= (p.Ala828=) n.4834C= c.4016C= (p.Ala1339=) c.3977C= (p.Ala1326=) c.3908C= (p.Ala1303=) c.3965C= (p.Ala1322=) c.3974C= (p.Ala1325=) c.3491C= (p.Ala1164=) c.3221C= (p.Ala1074=) n.3885C= n.3870C= n.4786C= | |
1 | g.5864011G>T | CA338049218 | NPHP4 | c.4019C>A (p.Ala1340Glu) n.3170C>A c.*2920C>A (n.*2920C>A) n.2767C>A n.3751C>A c.*1830C>A (n.*1830C>A) c.2480C>A (p.Ala827Glu) c.2483C>A (p.Ala828Glu) n.4834C>A c.4016C>A (p.Ala1339Glu) c.3977C>A (p.Ala1326Glu) c.3908C>A (p.Ala1303Glu) c.3965C>A (p.Ala1322Glu) c.3974C>A (p.Ala1325Glu) c.3491C>A (p.Ala1164Glu) c.3221C>A (p.Ala1074Glu) n.3885C>A n.3870C>A n.4786C>A | |
1 | g.5864012C>A | CA338049227 | NPHP4 | c.4018G>T (p.Ala1340Ser) n.3169G>T c.*2919G>T (n.*2919G>T) n.2766G>T n.3750G>T c.*1829G>T (n.*1829G>T) c.2479G>T (p.Ala827Ser) c.2482G>T (p.Ala828Ser) n.4833G>T c.4015G>T (p.Ala1339Ser) c.3976G>T (p.Ala1326Ser) c.3907G>T (p.Ala1303Ser) c.3964G>T (p.Ala1322Ser) c.3973G>T (p.Ala1325Ser) c.3490G>T (p.Ala1164Ser) c.3220G>T (p.Ala1074Ser) n.3884G>T n.3869G>T n.4785G>T | dbSNP |
1 | g.5864012C= | CA1151209282 | NPHP4 | c.4018G= (p.Ala1340=) n.3169G= c.*2919G= (n.*2919G=) n.2766G= n.3750G= c.*1829G= (n.*1829G=) c.2479G= (p.Ala827=) c.2482G= (p.Ala828=) n.4833G= c.4015G= (p.Ala1339=) c.3976G= (p.Ala1326=) c.3907G= (p.Ala1303=) c.3964G= (p.Ala1322=) c.3973G= (p.Ala1325=) c.3490G= (p.Ala1164=) c.3220G= (p.Ala1074=) n.3884G= n.3869G= n.4785G= | |
1 | g.5864012C>G | CA338049225 | NPHP4 | c.4018G>C (p.Ala1340Pro) n.3169G>C c.*2919G>C (n.*2919G>C) n.2766G>C n.3750G>C c.*1829G>C (n.*1829G>C) c.2479G>C (p.Ala827Pro) c.2482G>C (p.Ala828Pro) n.4833G>C c.4015G>C (p.Ala1339Pro) c.3976G>C (p.Ala1326Pro) c.3907G>C (p.Ala1303Pro) c.3964G>C (p.Ala1322Pro) c.3973G>C (p.Ala1325Pro) c.3490G>C (p.Ala1164Pro) c.3220G>C (p.Ala1074Pro) n.3884G>C n.3869G>C n.4785G>C | |
1 | g.5864012C>T | CA17124873 | NPHP4 | c.4018G>A (p.Ala1340Thr) n.3169G>A c.*2919G>A (n.*2919G>A) n.2766G>A n.3750G>A c.*1829G>A (n.*1829G>A) c.2479G>A (p.Ala827Thr) c.2482G>A (p.Ala828Thr) n.4833G>A c.4015G>A (p.Ala1339Thr) c.3976G>A (p.Ala1326Thr) c.3907G>A (p.Ala1303Thr) c.3964G>A (p.Ala1322Thr) c.3973G>A (p.Ala1325Thr) c.3490G>A (p.Ala1164Thr) c.3220G>A (p.Ala1074Thr) n.3884G>A n.3869G>A n.4785G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5864013A>C | CA415787043 | NPHP4 | c.4017T>G (p.Ala1339=) n.3168T>G c.*2918T>G (n.*2918T>G) n.2765T>G n.3749T>G c.*1828T>G (n.*1828T>G) c.2478T>G (p.Ala826=) c.2481T>G (p.Ala827=) n.4832T>G c.4014T>G (p.Ala1338=) c.3975T>G (p.Ala1325=) c.3906T>G (p.Ala1302=) c.3963T>G (p.Ala1321=) c.3972T>G (p.Ala1324=) c.3489T>G (p.Ala1163=) c.3219T>G (p.Ala1073=) n.3883T>G n.3868T>G n.4784T>G | |
1 | g.5864013A>G | CA415787045 | NPHP4 | c.4017T>C (p.Ala1339=) n.3168T>C c.*2918T>C (n.*2918T>C) n.2765T>C n.3749T>C c.*1828T>C (n.*1828T>C) c.2478T>C (p.Ala826=) c.2481T>C (p.Ala827=) n.4832T>C c.4014T>C (p.Ala1338=) c.3975T>C (p.Ala1325=) c.3906T>C (p.Ala1302=) c.3963T>C (p.Ala1321=) c.3972T>C (p.Ala1324=) c.3489T>C (p.Ala1163=) c.3219T>C (p.Ala1073=) n.3883T>C n.3868T>C n.4784T>C | |
1 | g.5864013A>T | CA415787044 | NPHP4 | c.4017T>A (p.Ala1339=) n.3168T>A c.*2918T>A (n.*2918T>A) n.2765T>A n.3749T>A c.*1828T>A (n.*1828T>A) c.2478T>A (p.Ala826=) c.2481T>A (p.Ala827=) n.4832T>A c.4014T>A (p.Ala1338=) c.3975T>A (p.Ala1325=) c.3906T>A (p.Ala1302=) c.3963T>A (p.Ala1321=) c.3972T>A (p.Ala1324=) c.3489T>A (p.Ala1163=) c.3219T>A (p.Ala1073=) n.3883T>A n.3868T>A n.4784T>A | |
1 | g.5864014G>A | CA338049232 | NPHP4 | c.4016C>T (p.Ala1339Val) n.3167C>T c.*2917C>T (n.*2917C>T) n.2764C>T n.3748C>T c.*1827C>T (n.*1827C>T) c.2477C>T (p.Ala826Val) c.2480C>T (p.Ala827Val) n.4831C>T c.4013C>T (p.Ala1338Val) c.3974C>T (p.Ala1325Val) c.3905C>T (p.Ala1302Val) c.3962C>T (p.Ala1321Val) c.3971C>T (p.Ala1324Val) c.3488C>T (p.Ala1163Val) c.3218C>T (p.Ala1073Val) n.3882C>T n.3867C>T n.4783C>T | |
1 | g.5864014G>C | CA338049234 | NPHP4 | c.4016C>G (p.Ala1339Gly) n.3167C>G c.*2917C>G (n.*2917C>G) n.2764C>G n.3748C>G c.*1827C>G (n.*1827C>G) c.2477C>G (p.Ala826Gly) c.2480C>G (p.Ala827Gly) n.4831C>G c.4013C>G (p.Ala1338Gly) c.3974C>G (p.Ala1325Gly) c.3905C>G (p.Ala1302Gly) c.3962C>G (p.Ala1321Gly) c.3971C>G (p.Ala1324Gly) c.3488C>G (p.Ala1163Gly) c.3218C>G (p.Ala1073Gly) n.3882C>G n.3867C>G n.4783C>G | dbSNP gnomAD v4 |
1 | g.5864014G= | CA1151209285 | NPHP4 | c.4016C= (p.Ala1339=) n.3167C= c.*2917C= (n.*2917C=) n.2764C= n.3748C= c.*1827C= (n.*1827C=) c.2477C= (p.Ala826=) c.2480C= (p.Ala827=) n.4831C= c.4013C= (p.Ala1338=) c.3974C= (p.Ala1325=) c.3905C= (p.Ala1302=) c.3962C= (p.Ala1321=) c.3971C= (p.Ala1324=) c.3488C= (p.Ala1163=) c.3218C= (p.Ala1073=) n.3882C= n.3867C= n.4783C= | |
1 | g.5864014G>T | CA338049235 | NPHP4 | c.4016C>A (p.Ala1339Asp) n.3167C>A c.*2917C>A (n.*2917C>A) n.2764C>A n.3748C>A c.*1827C>A (n.*1827C>A) c.2477C>A (p.Ala826Asp) c.2480C>A (p.Ala827Asp) n.4831C>A c.4013C>A (p.Ala1338Asp) c.3974C>A (p.Ala1325Asp) c.3905C>A (p.Ala1302Asp) c.3962C>A (p.Ala1321Asp) c.3971C>A (p.Ala1324Asp) c.3488C>A (p.Ala1163Asp) c.3218C>A (p.Ala1073Asp) n.3882C>A n.3867C>A n.4783C>A | |
1 | g.5864015C>A | CA338049236 | NPHP4 | c.4015G>T (p.Ala1339Ser) n.3166G>T c.*2916G>T (n.*2916G>T) n.2763G>T n.3747G>T c.*1826G>T (n.*1826G>T) c.2476G>T (p.Ala826Ser) c.2479G>T (p.Ala827Ser) n.4830G>T c.4012G>T (p.Ala1338Ser) c.3973G>T (p.Ala1325Ser) c.3904G>T (p.Ala1302Ser) c.3961G>T (p.Ala1321Ser) c.3970G>T (p.Ala1324Ser) c.3487G>T (p.Ala1163Ser) c.3217G>T (p.Ala1073Ser) n.3881G>T n.3866G>T n.4782G>T | dbSNP |
1 | g.5864015C= | CA1151209287 | NPHP4 | c.4015G= (p.Ala1339=) n.3166G= c.*2916G= (n.*2916G=) n.2763G= n.3747G= c.*1826G= (n.*1826G=) c.2476G= (p.Ala826=) c.2479G= (p.Ala827=) n.4830G= c.4012G= (p.Ala1338=) c.3973G= (p.Ala1325=) c.3904G= (p.Ala1302=) c.3961G= (p.Ala1321=) c.3970G= (p.Ala1324=) c.3487G= (p.Ala1163=) c.3217G= (p.Ala1073=) n.3881G= n.3866G= n.4782G= | |
1 | g.5864015C>G | CA338049237 | NPHP4 | c.4015G>C (p.Ala1339Pro) n.3166G>C c.*2916G>C (n.*2916G>C) n.2763G>C n.3747G>C c.*1826G>C (n.*1826G>C) c.2476G>C (p.Ala826Pro) c.2479G>C (p.Ala827Pro) n.4830G>C c.4012G>C (p.Ala1338Pro) c.3973G>C (p.Ala1325Pro) c.3904G>C (p.Ala1302Pro) c.3961G>C (p.Ala1321Pro) c.3970G>C (p.Ala1324Pro) c.3487G>C (p.Ala1163Pro) c.3217G>C (p.Ala1073Pro) n.3881G>C n.3866G>C n.4782G>C | |
1 | g.5864015C>T | CA338049239 | NPHP4 | c.4015G>A (p.Ala1339Thr) n.3166G>A c.*2916G>A (n.*2916G>A) n.2763G>A n.3747G>A c.*1826G>A (n.*1826G>A) c.2476G>A (p.Ala826Thr) c.2479G>A (p.Ala827Thr) n.4830G>A c.4012G>A (p.Ala1338Thr) c.3973G>A (p.Ala1325Thr) c.3904G>A (p.Ala1302Thr) c.3961G>A (p.Ala1321Thr) c.3970G>A (p.Ala1324Thr) c.3487G>A (p.Ala1163Thr) c.3217G>A (p.Ala1073Thr) n.3881G>A n.3866G>A n.4782G>A |