Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179559737A>C | CA343568986 | NPHS2 | c.476T>G (p.Leu159Arg) c.299T>G (p.Leu100Arg) c.403T>G (p.Trp135Gly) | |
1 | g.179559737A>G | CA343568987 | NPHS2 | c.476T>C (p.Leu159Pro) c.299T>C (p.Leu100Pro) c.403T>C (p.Trp135Arg) | gnomAD v4 |
1 | g.179559737A>T | CA343568988 | NPHS2 | c.476T>A (p.Leu159Gln) c.299T>A (p.Leu100Gln) c.403T>A (p.Trp135Arg) | gnomAD v4 |
1 | g.179559738G>A | CA422025948 | NPHS2 | c.475C>T (p.Leu159=) c.298C>T (p.Leu100=) c.402C>T (p.Ala134=) | gnomAD v4 |
1 | g.179559738G>C | CA343568993 | NPHS2 | c.475C>G (p.Leu159Val) c.298C>G (p.Leu100Val) c.402C>G (p.Ala134=) | |
1 | g.179559738G>T | CA343568991 | NPHS2 | c.475C>A (p.Leu159Met) c.298C>A (p.Leu100Met) c.402C>A (p.Ala134=) | gnomAD v4 |
1 | g.179559738_179559745del | CA1009660112 | NPHS2 | c.468_475del (p.Leu156PhefsTer8) c.291_298del (p.Leu97PhefsTer8) c.395_402del (p.Cys132LeufsTer21) | gnomAD v3 gnomAD v4 |
1 | g.179559739G>A | CA422025949 | NPHS2 | c.474C>T (p.Cys158=) c.297C>T (p.Cys99=) c.401C>T (p.Ala134Val) | gnomAD v4 |
1 | g.179559739G>C | CA343568996 | NPHS2 | c.474C>G (p.Cys158Trp) c.297C>G (p.Cys99Trp) c.401C>G (p.Ala134Gly) | |
1 | g.179559739G>T | CA343568997 | NPHS2 | c.474C>A (p.Cys158Ter) c.297C>A (p.Cys99Ter) c.401C>A (p.Ala134Asp) | gnomAD v4 |
1 | g.179559740C>A | CA343569000 | NPHS2 | c.473G>T (p.Cys158Phe) c.296G>T (p.Cys99Phe) c.400G>T (p.Ala134Ser) | dbSNP gnomAD v4 |
1 | g.179559740C= | CA1210320298 | NPHS2 | c.473G= (p.Cys158=) c.296G= (p.Cys99=) c.400G= (p.Ala134=) | |
1 | g.179559740C>G | CA343569002 | NPHS2 | c.473G>C (p.Cys158Ser) c.296G>C (p.Cys99Ser) c.400G>C (p.Ala134Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559740C>T | CA343569003 | NPHS2 | c.473G>A (p.Cys158Tyr) c.296G>A (p.Cys99Tyr) c.400G>A (p.Ala134Thr) | |
1 | g.179559741A>C | CA343569005 | NPHS2 | c.472T>G (p.Cys158Gly) c.295T>G (p.Cys99Gly) c.399T>G (p.Pro133=) | |
1 | g.179559741A>G | CA343569008 | NPHS2 | c.472T>C (p.Cys158Arg) c.295T>C (p.Cys99Arg) c.399T>C (p.Pro133=) | |
1 | g.179559741A>T | CA343569010 | NPHS2 | c.472T>A (p.Cys158Ser) c.295T>A (p.Cys99Ser) c.399T>A (p.Pro133=) | |
1 | g.179559742G>A | CA422025950 | NPHS2 | c.471C>T (p.Pro157=) c.294C>T (p.Pro98=) c.398C>T (p.Pro133Leu) | gnomAD v4 |
1 | g.179559742G>C | CA422025951 | NPHS2 | c.471C>G (p.Pro157=) c.294C>G (p.Pro98=) c.398C>G (p.Pro133Arg) | |
1 | g.179559742G>T | CA422025952 | NPHS2 | c.471C>A (p.Pro157=) c.294C>A (p.Pro98=) c.398C>A (p.Pro133His) | gnomAD v4 |
1 | g.179559743G>A | CA343569013 | NPHS2 | c.470C>T (p.Pro157Leu) c.293C>T (p.Pro98Leu) c.397C>T (p.Pro133Ser) | gnomAD v4 |
1 | g.179559743G>C | CA343569015 | NPHS2 | c.470C>G (p.Pro157Arg) c.293C>G (p.Pro98Arg) c.397C>G (p.Pro133Ala) | |
1 | g.179559743G>T | CA343569017 | NPHS2 | c.470C>A (p.Pro157His) c.293C>A (p.Pro98His) c.397C>A (p.Pro133Thr) | gnomAD v4 |
1 | g.179559744G>A | CA343569020 | NPHS2 | c.469C>T (p.Pro157Ser) c.292C>T (p.Pro98Ser) c.396C>T (p.Cys132=) | gnomAD v4 |
1 | g.179559744G>C | CA343569022 | NPHS2 | c.469C>G (p.Pro157Ala) c.292C>G (p.Pro98Ala) c.396C>G (p.Cys132Trp) | |
1 | g.179559744G>T | CA343569024 | NPHS2 | c.469C>A (p.Pro157Thr) c.292C>A (p.Pro98Thr) c.396C>A (p.Cys132Ter) | gnomAD v4 |
1 | g.179559745C>A | CA343569027 | NPHS2 | c.468G>T (p.Leu156Phe) c.291G>T (p.Leu97Phe) c.395G>T (p.Cys132Phe) | gnomAD v3 gnomAD v4 |
1 | g.179559745C= | CA1210320300 | NPHS2 | c.468G= (p.Leu156=) c.291G= (p.Leu97=) c.395G= (p.Cys132=) | |
1 | g.179559745C>G | CA343569029 | NPHS2 | c.468G>C (p.Leu156Phe) c.291G>C (p.Leu97Phe) c.395G>C (p.Cys132Ser) | gnomAD v4 |
1 | g.179559745C>T | CA422025953 | NPHS2 | c.468G>A (p.Leu156=) c.291G>A (p.Leu97=) c.395G>A (p.Cys132Tyr) | dbSNP gnomAD v4 |
1 | g.179559745dup | CA913071843 | NPHS2 | c.468dup (p.Pro157AlafsTer10) c.291dup (p.Pro98AlafsTer10) c.395dup (p.Cys132TrpfsTer24) | ClinVar |
1 | g.179559745_179559746delinsCA | CA1210320299 | NPHS2 | c.467_468delinsTG (p.Leu156=) c.290_291delinsTG (p.Leu97=) c.394_395delinsTG (p.Cys132=) | |
1 | g.179559746A= | CA1210320301 | NPHS2 | c.467T= (p.Leu156=) c.290T= (p.Leu97=) c.394T= (p.Cys132=) | |
1 | g.179559746A>C | CA343569034 | NPHS2 | c.467T>G (p.Leu156Trp) c.290T>G (p.Leu97Trp) c.394T>G (p.Cys132Gly) | |
1 | g.179559746A>G | CA343569036 | NPHS2 | c.467T>C (p.Leu156Ser) c.290T>C (p.Leu97Ser) c.394T>C (p.Cys132Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559746A>T | CA343569039 | NPHS2 | c.467T>A (p.Leu156Ter) c.290T>A (p.Leu97Ter) c.394T>A (p.Cys132Ser) | |
1 | g.179559746_179559753delinsAAAAAAAA | CA1144355209 | NPHS2 | c.460_467delinsTTTTTTTT (p.Phe154=) c.283_290delinsTTTTTTTT (p.Phe95=) c.387_394delinsTTTTTTTT (p.Ser129=) | |
1 | g.179559753dup | CA1267204 | NPHS2 | c.467dup (p.Leu156PhefsTer11) c.290dup (p.Leu97PhefsTer11) c.394dup (p.Cys132LeufsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.179559752_179559753dup | CA2649315982 | NPHS2 | c.466_467dup (p.Leu156PhefsTer26) c.466_467dup (p.Leu156PhefsTer30) c.289_290dup (p.Leu97PhefsTer26) c.393_394dup (p.Cys132PhefsTer11) c.466_467dup (p.Leu156PhefsTer?) | gnomAD v4 |
1 | g.179559747_179559753dup | CA1009660137 | NPHS2 | c.461_467dup (p.Leu156PhefsTer13) c.284_290dup (p.Leu97PhefsTer13) c.388_394dup (p.Cys132PhefsTer26) | |
1 | g.179559746_179559753dup | CA1009660139 | NPHS2 | c.460_467dup (p.Leu156PhefsTer28) c.460_467dup (p.Leu156PhefsTer32) c.283_290dup (p.Leu97PhefsTer28) c.387_394dup (p.Cys132PhefsTer13) c.460_467dup (p.Leu156PhefsTer?) | gnomAD v3 gnomAD v4 |
1 | g.179559753del | CA1267203 | NPHS2 | c.467del (p.Leu156CysfsTer25) c.467del (p.Leu156CysfsTer29) c.290del (p.Leu97CysfsTer25) c.394del (p.Cys132AlafsTer10) c.467del (p.Leu156CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.179559750_179559753del | CA2649315981 | NPHS2 | c.464_467del (p.Phe155CysfsTer25) c.464_467del (p.Phe155CysfsTer29) c.287_290del (p.Phe96CysfsTer25) c.391_394del (p.Phe131AlafsTer10) c.464_467del (p.Phe155CysfsTer?) | gnomAD v4 |
1 | g.179559746_179559747insT | CA422025954 | NPHS2 | c.466_467insA (p.Leu156TyrfsTer11) c.289_290insA (p.Leu97TyrfsTer11) c.393_394insA (p.Cys132MetfsTer24) | |
1 | g.179559747A= | CA1210320302 | NPHS2 | c.466T= (p.Leu156=) c.289T= (p.Leu97=) c.393T= (p.Phe131=) | |
1 | g.179559747A>C | CA343569043 | NPHS2 | c.466T>G (p.Leu156Val) c.289T>G (p.Leu97Val) c.393T>G (p.Phe131Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559747A>G | CA422025955 | NPHS2 | c.466T>C (p.Leu156=) c.289T>C (p.Leu97=) c.393T>C (p.Phe131=) | gnomAD v4 |
1 | g.179559747A>T | CA343569045 | NPHS2 | c.466T>A (p.Leu156Met) c.289T>A (p.Leu97Met) c.393T>A (p.Phe131Leu) | |
1 | g.179559747_179559748insC | CA2746821868 | NPHS2 | c.465_466insG (p.Leu156ValfsTer11) c.288_289insG (p.Leu97ValfsTer11) c.392_393insG (p.Phe131LeufsTer25) | |
1 | g.179559748A>C | CA343569047 | NPHS2 | c.465T>G (p.Phe155Leu) c.288T>G (p.Phe96Leu) c.392T>G (p.Phe131Cys) | |
1 | g.179559748A>G | CA422025956 | NPHS2 | c.465T>C (p.Phe155=) c.288T>C (p.Phe96=) c.392T>C (p.Phe131Ser) | |
1 | g.179559748A>T | CA343569049 | NPHS2 | c.465T>A (p.Phe155Leu) c.288T>A (p.Phe96Leu) c.392T>A (p.Phe131Tyr) | |
1 | g.179559749A= | CA1210320303 | NPHS2 | c.464T= (p.Phe155=) c.287T= (p.Phe96=) c.391T= (p.Phe131=) | |
1 | g.179559749A>C | CA343569052 | NPHS2 | c.464T>G (p.Phe155Cys) c.287T>G (p.Phe96Cys) c.391T>G (p.Phe131Val) | |
1 | g.179559749A>G | CA343569054 | NPHS2 | c.464T>C (p.Phe155Ser) c.287T>C (p.Phe96Ser) c.391T>C (p.Phe131Leu) | dbSNP gnomAD v4 |
1 | g.179559749A>T | CA343569056 | NPHS2 | c.464T>A (p.Phe155Tyr) c.287T>A (p.Phe96Tyr) c.391T>A (p.Phe131Ile) | |
1 | g.179559750A= | CA1210320304 | NPHS2 | c.463T= (p.Phe155=) c.286T= (p.Phe96=) c.390T= (p.Phe130=) | |
1 | g.179559750A>C | CA33699744 | NPHS2 | c.463T>G (p.Phe155Val) c.286T>G (p.Phe96Val) c.390T>G (p.Phe130Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559750A>G | CA343569059 | NPHS2 | c.463T>C (p.Phe155Leu) c.286T>C (p.Phe96Leu) c.390T>C (p.Phe130=) | |
1 | g.179559750A>T | CA343569058 | NPHS2 | c.463T>A (p.Phe155Ile) c.286T>A (p.Phe96Ile) c.390T>A (p.Phe130Leu) | |
1 | g.179559756_179559760del | CA2695199920 | NPHS2 | c.459_463del (p.Phe155AlafsTer10) c.282_286del (p.Phe96AlafsTer10) c.386_390del (p.Ser129PhefsTer25) | ClinVar |
1 | g.179559751A= | CA1210320305 | NPHS2 | c.462T= (p.Phe154=) c.285T= (p.Phe95=) c.389T= (p.Phe130=) | |
1 | g.179559751A>C | CA343569063 | NPHS2 | c.462T>G (p.Phe154Leu) c.285T>G (p.Phe95Leu) c.389T>G (p.Phe130Cys) | dbSNP |
1 | g.179559751A>G | CA422025957 | NPHS2 | c.462T>C (p.Phe154=) c.285T>C (p.Phe95=) c.389T>C (p.Phe130Ser) | |
1 | g.179559751A>T | CA343569065 | NPHS2 | c.462T>A (p.Phe154Leu) c.285T>A (p.Phe95Leu) c.389T>A (p.Phe130Tyr) | |
1 | g.179559752A= | CA1210320306 | NPHS2 | c.461T= (p.Phe154=) c.284T= (p.Phe95=) c.388T= (p.Phe130=) | |
1 | g.179559752A>C | CA343569066 | NPHS2 | c.461T>G (p.Phe154Cys) c.284T>G (p.Phe95Cys) c.388T>G (p.Phe130Val) | |
1 | g.179559752A>G | CA343569068 | NPHS2 | c.461T>C (p.Phe154Ser) c.284T>C (p.Phe95Ser) c.388T>C (p.Phe130Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559752A>T | CA343569071 | NPHS2 | c.461T>A (p.Phe154Tyr) c.284T>A (p.Phe95Tyr) c.388T>A (p.Phe130Ile) | |
1 | g.179559753A>C | CA343569072 | NPHS2 | c.460T>G (p.Phe154Val) c.283T>G (p.Phe95Val) c.387T>G (p.Ser129=) | |
1 | g.179559753A>G | CA343569073 | NPHS2 | c.460T>C (p.Phe154Leu) c.283T>C (p.Phe95Leu) c.387T>C (p.Ser129=) | |
1 | g.179559753A>T | CA343569074 | NPHS2 | c.460T>A (p.Phe154Ile) c.283T>A (p.Phe95Ile) c.387T>A (p.Ser129=) | |
1 | g.179559753_179559754insC | CA2746821869 | NPHS2 | c.459_460insG (p.Phe154ValfsTer13) c.282_283insG (p.Phe95ValfsTer13) c.386_387insG (p.Cys132LeufsTer24) | |
1 | g.179559754del | CA2573959128 | NPHS2 | c.459del (p.Leu156CysfsTer25) c.459del (p.Leu156CysfsTer?) c.282del (p.Leu97CysfsTer25) c.386del (p.Ser129PhefsTer13) | |
1 | g.179559754G>A | CA422025958 | NPHS2 | c.459C>T (p.Phe153=) c.282C>T (p.Phe94=) c.386C>T (p.Ser129Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559754G>C | CA343569075 | NPHS2 | c.459C>G (p.Phe153Leu) c.282C>G (p.Phe94Leu) c.386C>G (p.Ser129Cys) | |
1 | g.179559754G= | CA1210320307 | NPHS2 | c.459C= (p.Phe153=) c.282C= (p.Phe94=) c.386C= (p.Ser129=) | |
1 | g.179559754G>T | CA343569076 | NPHS2 | c.459C>A (p.Phe153Leu) c.282C>A (p.Phe94Leu) c.386C>A (p.Ser129Tyr) | gnomAD v4 |
1 | g.179559755A>C | CA343569077 | NPHS2 | c.458T>G (p.Phe153Cys) c.281T>G (p.Phe94Cys) c.385T>G (p.Ser129Ala) | |
1 | g.179559755A>G | CA343569078 | NPHS2 | c.458T>C (p.Phe153Ser) c.281T>C (p.Phe94Ser) c.385T>C (p.Ser129Pro) | gnomAD v4 |
1 | g.179559755A>T | CA343569079 | NPHS2 | c.458T>A (p.Phe153Tyr) c.281T>A (p.Phe94Tyr) c.385T>A (p.Ser129Thr) | |
1 | g.179559758del | CA2649315991 | NPHS2 | c.458del (p.Phe153SerfsTer28) c.458del (p.Phe153SerfsTer?) c.281del (p.Phe94SerfsTer28) c.385del (p.Ser129LeufsTer13) | gnomAD v4 |
1 | g.179559757_179559758del | CA2649315990 | NPHS2 | c.457_458del (p.Phe153LeufsTer13) c.280_281del (p.Phe94LeufsTer13) c.384_385del (p.Ser129PhefsTer26) | gnomAD v4 |
1 | g.179559756A>C | CA343569080 | NPHS2 | c.457T>G (p.Phe153Val) c.280T>G (p.Phe94Val) c.384T>G (p.Phe128Leu) | |
1 | g.179559756A>G | CA343569081 | NPHS2 | c.457T>C (p.Phe153Leu) c.280T>C (p.Phe94Leu) c.384T>C (p.Phe128=) | |
1 | g.179559756A>T | CA343569082 | NPHS2 | c.457T>A (p.Phe153Ile) c.280T>A (p.Phe94Ile) c.384T>A (p.Phe128Leu) | gnomAD v4 |
1 | g.179559757A= | CA1210320308 | NPHS2 | c.456T= (p.Leu152=) c.279T= (p.Leu93=) c.383T= (p.Phe128=) | |
1 | g.179559757A>C | CA422025959 | NPHS2 | c.456T>G (p.Leu152=) c.279T>G (p.Leu93=) c.383T>G (p.Phe128Cys) | |
1 | g.179559757A>G | CA10586716 | NPHS2 | c.456T>C (p.Leu152=) c.279T>C (p.Leu93=) c.383T>C (p.Phe128Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.179559757A>T | CA422025960 | NPHS2 | c.456T>A (p.Leu152=) c.279T>A (p.Leu93=) c.383T>A (p.Phe128Tyr) | gnomAD v4 |
1 | g.179559757_179559758insC | CA2746821870 | NPHS2 | c.455_456insG (p.Phe154LeufsTer13) c.278_279insG (p.Phe95LeufsTer13) c.382_383insG (p.Phe128CysfsTer28) | |
1 | g.179559758A= | CA1210320309 | NPHS2 | c.455T= (p.Leu152=) c.278T= (p.Leu93=) c.382T= (p.Phe128=) | |
1 | g.179559758A>C | CA343569083 | NPHS2 | c.455T>G (p.Leu152Arg) c.278T>G (p.Leu93Arg) c.382T>G (p.Phe128Val) | |
1 | g.179559758A>G | CA343569084 | NPHS2 | c.455T>C (p.Leu152Pro) c.278T>C (p.Leu93Pro) c.382T>C (p.Phe128Leu) | gnomAD v4 |
1 | g.179559758A>T | CA343569085 | NPHS2 | c.455T>A (p.Leu152His) c.278T>A (p.Leu93His) c.382T>A (p.Phe128Ile) | gnomAD v4 |
1 | g.179559758_179559759insATAATGATATG | CA1210320310 | NPHS2 | c.454_455insCATATCATTAT (p.Leu152ProfsTer33) c.454_455insCATATCATTAT (p.Leu152ProfsTer?) c.277_278insCATATCATTAT (p.Leu93ProfsTer33) c.381_382insCATATCATTAT (p.Phe128HisfsTer18) | dbSNP |
1 | g.179559759G>A | CA343569086 | NPHS2 | c.454C>T (p.Leu152Phe) c.277C>T (p.Leu93Phe) c.381C>T (p.Val127=) | |
1 | g.179559759G>C | CA343569087 | NPHS2 | c.454C>G (p.Leu152Val) c.277C>G (p.Leu93Val) c.381C>G (p.Val127=) | |
1 | g.179559759G>T | CA343569088 | NPHS2 | c.454C>A (p.Leu152Ile) c.277C>A (p.Leu93Ile) c.381C>A (p.Val127=) | gnomAD v4 COSMIC |
1 | g.179559760A>C | CA422025961 | NPHS2 | c.453T>G (p.Gly151=) c.276T>G (p.Gly92=) c.380T>G (p.Val127Gly) | |
1 | g.179559760A>G | CA422025962 | NPHS2 | c.453T>C (p.Gly151=) c.276T>C (p.Gly92=) c.380T>C (p.Val127Ala) | |
1 | g.179559760A>T | CA422025963 | NPHS2 | c.453T>A (p.Gly151=) c.276T>A (p.Gly92=) c.380T>A (p.Val127Asp) | gnomAD v4 |
1 | g.179559760_179559761delinsAC | CA1210320311 | NPHS2 | c.452_453delinsGT (p.Gly151=) c.275_276delinsGT (p.Gly92=) c.379_380delinsGT (p.Val127=) | |
1 | g.179559761C>A | CA343569089 | NPHS2 | c.452G>T (p.Gly151Val) c.275G>T (p.Gly92Val) c.379G>T (p.Val127Phe) | gnomAD v4 |
1 | g.179559761C>G | CA343569090 | NPHS2 | c.452G>C (p.Gly151Ala) c.275G>C (p.Gly92Ala) c.379G>C (p.Val127Leu) | |
1 | g.179559761C>T | CA343569091 | NPHS2 | c.452G>A (p.Gly151Asp) c.275G>A (p.Gly92Asp) c.379G>A (p.Val127Ile) | gnomAD v4 |
1 | g.179559762del | CA422025964 | NPHS2 | c.452del c.275del c.379del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559762C>A | CA343569092 | NPHS2 | c.452-1G>T (n.452-1G>T) c.275-1G>T (n.275-1G>T) c.379-1G>T (n.379-1G>T) | gnomAD v4 |
1 | g.179559762C= | CA1210320312 | NPHS2 | c.452-1G= (n.452-1G=) c.275-1G= (n.275-1G=) c.379-1G= (n.379-1G=) | |
1 | g.179559762C>G | CA343569093 | NPHS2 | c.452-1G>C (n.452-1G>C) c.275-1G>C (n.275-1G>C) c.379-1G>C (n.379-1G>C) | gnomAD v4 |
1 | g.179559762C>T | CA16609437 | NPHS2 | c.452-1G>A (n.452-1G>A) c.275-1G>A (n.275-1G>A) c.379-1G>A (n.379-1G>A) | ClinVar dbSNP |
1 | g.179559763T>A | CA343569096 | NPHS2 | c.452-2A>T (n.452-2A>T) c.275-2A>T (n.275-2A>T) c.379-2A>T (n.379-2A>T) | gnomAD v4 |
1 | g.179559763T>C | CA343569095 | NPHS2 | c.452-2A>G (n.452-2A>G) c.275-2A>G (n.275-2A>G) c.379-2A>G (n.379-2A>G) | gnomAD v4 |
1 | g.179559763T>G | CA343569094 | NPHS2 | c.452-2A>C (n.452-2A>C) c.275-2A>C (n.275-2A>C) c.379-2A>C (n.379-2A>C) | |
1 | g.179559763_179559764delinsTA | CA1210320313 | NPHS2 | c.452-3_452-2delinsTA (n.452-3_452-2delinsTA) c.275-3_275-2delinsTA (n.275-3_275-2delinsTA) c.379-3_379-2delinsTA (n.379-3_379-2delinsTA) | |
1 | g.179559764A= | CA1145982754 | NPHS2 | c.452-3T= (n.452-3T=) c.275-3T= (n.275-3T=) c.379-3T= (n.379-3T=) | |
1 | g.179559764A>G | CA1267206 | NPHS2 | c.452-3T>C (n.452-3T>C) c.275-3T>C (n.275-3T>C) c.379-3T>C (n.379-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559767del | CA1267205 | NPHS2 | c.452-3del (n.452-3del) c.275-3del (n.275-3del) c.379-3del (n.379-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179559765A>G | CA2519151425 | NPHS2 | c.452-4T>C (n.452-4T>C) c.275-4T>C (n.275-4T>C) c.379-4T>C (n.379-4T>C) | gnomAD v4 |
1 | g.179559765A>T | CA2649316003 | NPHS2 | c.452-4T>A (n.452-4T>A) c.275-4T>A (n.275-4T>A) c.379-4T>A (n.379-4T>A) | gnomAD v4 |
1 | g.179559766A>C | CA2580061539 | NPHS2 | c.452-5T>G (n.452-5T>G) c.275-5T>G (n.275-5T>G) c.379-5T>G (n.379-5T>G) | ClinVar gnomAD v4 |
1 | g.179559766A>G | CA2649316008 | NPHS2 | c.452-5T>C (n.452-5T>C) c.275-5T>C (n.275-5T>C) c.379-5T>C (n.379-5T>C) | gnomAD v4 |
1 | g.179559771_179559772del | CA2739275427 | NPHS2 | c.452-7_452-6del (n.452-7_452-6del) c.275-7_275-6del (n.275-7_275-6del) c.379-7_379-6del (n.379-7_379-6del) | ClinVar |
1 | g.179559769_179559772del | CA2649316010 | NPHS2 | c.452-9_452-6del (n.452-9_452-6del) c.275-9_275-6del (n.275-9_275-6del) c.379-9_379-6del (n.379-9_379-6del) | gnomAD v4 |
1 | g.179559768G>C | CA1210320314 | NPHS2 | c.452-7C>G (n.452-7C>G) c.275-7C>G (n.275-7C>G) c.379-7C>G (n.379-7C>G) | dbSNP gnomAD v4 |
1 | g.179559768G= | CA1210320315 | NPHS2 | c.452-7C= (n.452-7C=) c.275-7C= (n.275-7C=) c.379-7C= (n.379-7C=) | |
1 | g.179559768G>T | CA2649316011 | NPHS2 | c.452-7C>A (n.452-7C>A) c.275-7C>A (n.275-7C>A) c.379-7C>A (n.379-7C>A) | ClinVar gnomAD v4 |
1 | g.179559769A= | CA1210320317 | NPHS2 | c.452-8T= (n.452-8T=) c.275-8T= (n.275-8T=) c.379-8T= (n.379-8T=) | |
1 | g.179559769A>G | CA1210320318 | NPHS2 | c.452-8T>C (n.452-8T>C) c.275-8T>C (n.275-8T>C) c.379-8T>C (n.379-8T>C) | dbSNP gnomAD v4 |
1 | g.179559769_179559772delinsAGAG | CA1210320316 | NPHS2 | c.452-11_452-8delinsCTCT (n.452-11_452-8delinsCTCT) c.275-11_275-8delinsCTCT (n.275-11_275-8delinsCTCT) c.379-11_379-8delinsCTCT (n.379-11_379-8delinsCTCT) | |
1 | g.179559770G>T | CA2649316019 | NPHS2 | c.452-9C>A (n.452-9C>A) c.275-9C>A (n.275-9C>A) c.379-9C>A (n.379-9C>A) | gnomAD v4 |
1 | g.179559778_179559780dup | CA2649316016 | NPHS2 | c.452-11_452-9dup (n.452-11_452-9dup) c.275-11_275-9dup (n.275-11_275-9dup) c.379-11_379-9dup (n.379-11_379-9dup) | gnomAD v4 |
1 | g.179559778_179559780del | CA1267207 | NPHS2 | c.452-11_452-9del (n.452-11_452-9del) c.275-11_275-9del (n.275-11_275-9del) c.379-11_379-9del (n.379-11_379-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559771A= | CA1210320319 | NPHS2 | c.452-10T= (n.452-10T=) c.275-10T= (n.275-10T=) c.379-10T= (n.379-10T=) | |
1 | g.179559771A>G | CA527198716 | NPHS2 | c.452-10T>C (n.452-10T>C) c.275-10T>C (n.275-10T>C) c.379-10T>C (n.379-10T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559772G>A | CA527198719 | NPHS2 | c.452-11C>T (n.452-11C>T) c.275-11C>T (n.275-11C>T) c.379-11C>T (n.379-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559772G>C | CA2697554679 | NPHS2 | c.452-11C>G (n.452-11C>G) c.275-11C>G (n.275-11C>G) c.379-11C>G (n.379-11C>G) | ClinVar |
1 | g.179559772G= | CA1210320320 | NPHS2 | c.452-11C= (n.452-11C=) c.275-11C= (n.275-11C=) c.379-11C= (n.379-11C=) | |
1 | g.179559772G>T | CA2649316022 | NPHS2 | c.452-11C>A (n.452-11C>A) c.275-11C>A (n.275-11C>A) c.379-11C>A (n.379-11C>A) | gnomAD v4 |
1 | g.179559773G>T | CA2649316024 | NPHS2 | c.452-12C>A (n.452-12C>A) c.275-12C>A (n.275-12C>A) c.379-12C>A (n.379-12C>A) | gnomAD v4 |
1 | g.179559774A>G | CA2739275428 | NPHS2 | c.452-13T>C (n.452-13T>C) c.275-13T>C (n.275-13T>C) c.379-13T>C (n.379-13T>C) | ClinVar |
1 | g.179559775G>A | CA527198723 | NPHS2 | c.452-14C>T (n.452-14C>T) c.275-14C>T (n.275-14C>T) c.379-14C>T (n.379-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559775G= | CA1210320321 | NPHS2 | c.452-14C= (n.452-14C=) c.275-14C= (n.275-14C=) c.379-14C= (n.379-14C=) | |
1 | g.179559775G>T | CA2649316026 | NPHS2 | c.452-14C>A (n.452-14C>A) c.275-14C>A (n.275-14C>A) c.379-14C>A (n.379-14C>A) | gnomAD v4 |
1 | g.179559776G>C | CA2573959151 | NPHS2 | c.452-15C>G (n.452-15C>G) c.275-15C>G (n.275-15C>G) c.379-15C>G (n.379-15C>G) | |
1 | g.179559776G>T | CA2649316027 | NPHS2 | c.452-15C>A (n.452-15C>A) c.275-15C>A (n.275-15C>A) c.379-15C>A (n.379-15C>A) | gnomAD v4 |
1 | g.179559777A>T | CA2649316028 | NPHS2 | c.452-16T>A (n.452-16T>A) c.275-16T>A (n.275-16T>A) c.379-16T>A (n.379-16T>A) | gnomAD v4 |
1 | g.179559778G>A | CA527198726 | NPHS2 | c.452-17C>T (n.452-17C>T) c.275-17C>T (n.275-17C>T) c.379-17C>T (n.379-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559778G= | CA1210320322 | NPHS2 | c.452-17C= (n.452-17C=) c.275-17C= (n.275-17C=) c.379-17C= (n.379-17C=) | |
1 | g.179559778G>T | CA2649316030 | NPHS2 | c.452-17C>A (n.452-17C>A) c.275-17C>A (n.275-17C>A) c.379-17C>A (n.379-17C>A) | ClinVar gnomAD v4 |
1 | g.179559778_179559779del | CA2649316029 | NPHS2 | c.452-18_452-17del (n.452-18_452-17del) c.275-18_275-17del (n.275-18_275-17del) c.379-18_379-17del (n.379-18_379-17del) | gnomAD v4 |
1 | g.179559779G>A | CA2649316036 | NPHS2 | c.452-18C>T (n.452-18C>T) c.275-18C>T (n.275-18C>T) c.379-18C>T (n.379-18C>T) | gnomAD v4 |
1 | g.179559779G>T | CA2649316033 | NPHS2 | c.452-18C>A (n.452-18C>A) c.275-18C>A (n.275-18C>A) c.379-18C>A (n.379-18C>A) | gnomAD v4 |
1 | g.179559780A>G | CA2649316038 | NPHS2 | c.452-19T>C (n.452-19T>C) c.275-19T>C (n.275-19T>C) c.379-19T>C (n.379-19T>C) | gnomAD v4 |
1 | g.179559781A>G | CA2649316039 | NPHS2 | c.452-20T>C (n.452-20T>C) c.275-20T>C (n.275-20T>C) c.379-20T>C (n.379-20T>C) | gnomAD v4 |
1 | g.179559782del | CA2649316045 | NPHS2 | c.452-21del (n.452-21del) c.275-21del (n.275-21del) c.379-21del (n.379-21del) | gnomAD v4 |
1 | g.179559782G>A | CA1267208 | NPHS2 | c.452-21C>T (n.452-21C>T) c.275-21C>T (n.275-21C>T) c.379-21C>T (n.379-21C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559782G>C | CA2581706268 | NPHS2 | c.452-21C>G (n.452-21C>G) c.275-21C>G (n.275-21C>G) c.379-21C>G (n.379-21C>G) | gnomAD v4 |
1 | g.179559782G= | CA1140391223 | NPHS2 | c.452-21C= (n.452-21C=) c.275-21C= (n.275-21C=) c.379-21C= (n.379-21C=) | |
1 | g.179559782G>T | CA2581706267 | NPHS2 | c.452-21C>A (n.452-21C>A) c.275-21C>A (n.275-21C>A) c.379-21C>A (n.379-21C>A) | gnomAD v4 |
1 | g.179559783T>A | CA1267209 | NPHS2 | c.452-22A>T (n.452-22A>T) c.275-22A>T (n.275-22A>T) c.379-22A>T (n.379-22A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559783T>C | CA2649316051 | NPHS2 | c.452-22A>G (n.452-22A>G) c.275-22A>G (n.275-22A>G) c.379-22A>G (n.379-22A>G) | gnomAD v4 |
1 | g.179559783T>G | CA2649316049 | NPHS2 | c.452-22A>C (n.452-22A>C) c.275-22A>C (n.275-22A>C) c.379-22A>C (n.379-22A>C) | gnomAD v4 |
1 | g.179559783T= | CA1210320323 | NPHS2 | c.452-22A= (n.452-22A=) c.275-22A= (n.275-22A=) c.379-22A= (n.379-22A=) | |
1 | g.179559784G>C | CA2649316052 | NPHS2 | c.452-23C>G (n.452-23C>G) c.275-23C>G (n.275-23C>G) c.379-23C>G (n.379-23C>G) | gnomAD v4 |
1 | g.179559784G>T | CA2649316053 | NPHS2 | c.452-23C>A (n.452-23C>A) c.275-23C>A (n.275-23C>A) c.379-23C>A (n.379-23C>A) | gnomAD v4 |
1 | g.179559785A= | CA1210320324 | NPHS2 | c.452-24T= (n.452-24T=) c.275-24T= (n.275-24T=) c.379-24T= (n.379-24T=) | |
1 | g.179559785A>G | CA2649316055 | NPHS2 | c.452-24T>C (n.452-24T>C) c.275-24T>C (n.275-24T>C) c.379-24T>C (n.379-24T>C) | gnomAD v4 |
1 | g.179559785A>T | CA1210320325 | NPHS2 | c.452-24T>A (n.452-24T>A) c.275-24T>A (n.275-24T>A) c.379-24T>A (n.379-24T>A) | dbSNP |
1 | g.179559786C>A | CA2649316058 | NPHS2 | c.452-25G>T (n.452-25G>T) c.275-25G>T (n.275-25G>T) c.379-25G>T (n.379-25G>T) | gnomAD v4 |
1 | g.179559786C= | CA1210320326 | NPHS2 | c.452-25G= (n.452-25G=) c.275-25G= (n.275-25G=) c.379-25G= (n.379-25G=) | |
1 | g.179559786C>T | CA1210320327 | NPHS2 | c.452-25G>A (n.452-25G>A) c.275-25G>A (n.275-25G>A) c.379-25G>A (n.379-25G>A) | dbSNP gnomAD v4 |
1 | g.179559787A>G | CA2649316061 | NPHS2 | c.452-26T>C (n.452-26T>C) c.275-26T>C (n.275-26T>C) c.379-26T>C (n.379-26T>C) | gnomAD v4 |
1 | g.179559787A>T | CA2649316064 | NPHS2 | c.452-26T>A (n.452-26T>A) c.275-26T>A (n.275-26T>A) c.379-26T>A (n.379-26T>A) | gnomAD v4 |
1 | g.179559788G>A | CA2649316065 | NPHS2 | c.452-27C>T (n.452-27C>T) c.275-27C>T (n.275-27C>T) c.379-27C>T (n.379-27C>T) | gnomAD v4 |
1 | g.179559788G>C | CA2649316066 | NPHS2 | c.452-27C>G (n.452-27C>G) c.275-27C>G (n.275-27C>G) c.379-27C>G (n.379-27C>G) | gnomAD v4 |
1 | g.179559788G>T | CA2573959167 | NPHS2 | c.452-27C>A (n.452-27C>A) c.275-27C>A (n.275-27C>A) c.379-27C>A (n.379-27C>A) | gnomAD v4 |
1 | g.179559789A= | CA1148421363 | NPHS2 | c.452-28T= (n.452-28T=) c.275-28T= (n.275-28T=) c.379-28T= (n.379-28T=) | |
1 | g.179559789A>T | CA1267210 | NPHS2 | c.452-28T>A (n.452-28T>A) c.275-28T>A (n.275-28T>A) c.379-28T>A (n.379-28T>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.179559792_179559795del | CA2649316070 | NPHS2 | c.452-31_452-28del (n.452-31_452-28del) c.275-31_275-28del (n.275-31_275-28del) c.379-31_379-28del (n.379-31_379-28del) | gnomAD v4 |
1 | g.179559792A= | CA1140450833 | NPHS2 | c.452-31T= (n.452-31T=) c.275-31T= (n.275-31T=) c.379-31T= (n.379-31T=) | |
1 | g.179559792A>C | CA527198733 | NPHS2 | c.452-31T>G (n.452-31T>G) c.275-31T>G (n.275-31T>G) c.379-31T>G (n.379-31T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559792A>G | CA1267211 | NPHS2 | c.452-31T>C (n.452-31T>C) c.275-31T>C (n.275-31T>C) c.379-31T>C (n.379-31T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559792A>T | CA2581706269 | NPHS2 | c.452-31T>A (n.452-31T>A) c.275-31T>A (n.275-31T>A) c.379-31T>A (n.379-31T>A) | |
1 | g.179559793A= | CA1141612994 | NPHS2 | c.452-32T= (n.452-32T=) c.275-32T= (n.275-32T=) c.379-32T= (n.379-32T=) | |
1 | g.179559793A>C | CA1267212 | NPHS2 | c.452-32T>G (n.452-32T>G) c.275-32T>G (n.275-32T>G) c.379-32T>G (n.379-32T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559793A>G | CA2649316084 | NPHS2 | c.452-32T>C (n.452-32T>C) c.275-32T>C (n.275-32T>C) c.379-32T>C (n.379-32T>C) | gnomAD v4 |
1 | g.179559794T>C | CA527198741 | NPHS2 | c.452-33A>G (n.452-33A>G) c.275-33A>G (n.275-33A>G) c.379-33A>G (n.379-33A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559794T>G | CA2649316087 | NPHS2 | c.452-33A>C (n.452-33A>C) c.275-33A>C (n.275-33A>C) c.379-33A>C (n.379-33A>C) | gnomAD v4 |
1 | g.179559794T= | CA1210320328 | NPHS2 | c.452-33A= (n.452-33A=) c.275-33A= (n.275-33A=) c.379-33A= (n.379-33A=) | |
1 | g.179559796G>T | CA2649316089 | NPHS2 | c.452-35C>A (n.452-35C>A) c.275-35C>A (n.275-35C>A) c.379-35C>A (n.379-35C>A) | gnomAD v4 |
1 | g.179559797C>A | CA2649316091 | NPHS2 | c.452-36G>T (n.452-36G>T) c.275-36G>T (n.275-36G>T) c.379-36G>T (n.379-36G>T) | gnomAD v4 |
1 | g.179559797C= | CA1210320329 | NPHS2 | c.452-36G= (n.452-36G=) c.275-36G= (n.275-36G=) c.379-36G= (n.379-36G=) | |
1 | g.179559797C>T | CA527198744 | NPHS2 | c.452-36G>A (n.452-36G>A) c.275-36G>A (n.275-36G>A) c.379-36G>A (n.379-36G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559798T>A | CA2573959178 | NPHS2 | c.452-37A>T (n.452-37A>T) c.275-37A>T (n.275-37A>T) c.379-37A>T (n.379-37A>T) | |
1 | g.179559798T>G | CA2649316092 | NPHS2 | c.452-37A>C (n.452-37A>C) c.275-37A>C (n.275-37A>C) c.379-37A>C (n.379-37A>C) | gnomAD v4 |
1 | g.179559799A= | CA1210320330 | NPHS2 | c.452-38T= (n.452-38T=) c.275-38T= (n.275-38T=) c.379-38T= (n.379-38T=) | |
1 | g.179559799A>G | CA891818411 | NPHS2 | c.452-38T>C (n.452-38T>C) c.275-38T>C (n.275-38T>C) c.379-38T>C (n.379-38T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559799A>T | CA2649316093 | NPHS2 | c.452-38T>A (n.452-38T>A) c.275-38T>A (n.275-38T>A) c.379-38T>A (n.379-38T>A) | gnomAD v4 |
1 | g.179559800G>A | CA2649316095 | NPHS2 | c.452-39C>T (n.452-39C>T) c.275-39C>T (n.275-39C>T) c.379-39C>T (n.379-39C>T) | gnomAD v4 |
1 | g.179559800G>T | CA2649316096 | NPHS2 | c.452-39C>A (n.452-39C>A) c.275-39C>A (n.275-39C>A) c.379-39C>A (n.379-39C>A) | gnomAD v4 |
1 | g.179559801C>A | CA2649316097 | NPHS2 | c.452-40G>T (n.452-40G>T) c.275-40G>T (n.275-40G>T) c.379-40G>T (n.379-40G>T) | gnomAD v4 |
1 | g.179559803T>A | CA2649316100 | NPHS2 | c.452-42A>T (n.452-42A>T) c.275-42A>T (n.275-42A>T) c.379-42A>T (n.379-42A>T) | gnomAD v4 |
1 | g.179559803T>C | CA2649316098 | NPHS2 | c.452-42A>G (n.452-42A>G) c.275-42A>G (n.275-42A>G) c.379-42A>G (n.379-42A>G) | gnomAD v4 |
1 | g.179559803T>G | CA2649316099 | NPHS2 | c.452-42A>C (n.452-42A>C) c.275-42A>C (n.275-42A>C) c.379-42A>C (n.379-42A>C) | gnomAD v4 |
1 | g.179559804G>A | CA2697832302 | NPHS2 | c.452-43C>T (n.452-43C>T) c.275-43C>T (n.275-43C>T) c.379-43C>T (n.379-43C>T) | dbSNP |
1 | g.179559804G>T | CA2649316101 | NPHS2 | c.452-43C>A (n.452-43C>A) c.275-43C>A (n.275-43C>A) c.379-43C>A (n.379-43C>A) | gnomAD v4 |
1 | g.179559804_179559805insCT | CA2649316103 | NPHS2 | c.452-44_452-43insAG (n.452-44_452-43insAG) c.275-44_275-43insAG (n.275-44_275-43insAG) c.379-44_379-43insAG (n.379-44_379-43insAG) | gnomAD v4 |
1 | g.179559806A>C | CA2649316106 | NPHS2 | c.452-45T>G (n.452-45T>G) c.275-45T>G (n.275-45T>G) c.379-45T>G (n.379-45T>G) | gnomAD v4 |
1 | g.179559806_179559807del | CA2649316104 | NPHS2 | c.452-46_452-45del (n.452-46_452-45del) c.275-46_275-45del (n.275-46_275-45del) c.379-46_379-45del (n.379-46_379-45del) | gnomAD v4 |
1 | g.179559806_179559807insACCCAAAC | CA2649316109 | NPHS2 | c.452-46_452-45insGTTTGGGT (n.452-46_452-45insGTTTGGGT) c.275-46_275-45insGTTTGGGT (n.275-46_275-45insGTTTGGGT) c.379-46_379-45insGTTTGGGT (n.379-46_379-45insGTTTGGGT) | gnomAD v4 |
1 | g.179559807G>A | CA1267213 | NPHS2 | c.452-46C>T (n.452-46C>T) c.275-46C>T (n.275-46C>T) c.379-46C>T (n.379-46C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559807G>C | CA2581706270 | NPHS2 | c.452-46C>G (n.452-46C>G) c.275-46C>G (n.275-46C>G) c.379-46C>G (n.379-46C>G) | |
1 | g.179559807G= | CA1140391224 | NPHS2 | c.452-46C= (n.452-46C=) c.275-46C= (n.275-46C=) c.379-46C= (n.379-46C=) | |
1 | g.179559807G>T | CA2573959220 | NPHS2 | c.452-46C>A (n.452-46C>A) c.275-46C>A (n.275-46C>A) c.379-46C>A (n.379-46C>A) | gnomAD v4 |
1 | g.179559807_179559808insCTTTCAT | CA2649316113 | NPHS2 | c.452-47_452-46insATGAAAG (n.452-47_452-46insATGAAAG) c.275-47_275-46insATGAAAG (n.275-47_275-46insATGAAAG) c.379-47_379-46insATGAAAG (n.379-47_379-46insATGAAAG) | gnomAD v4 |
1 | g.179559808G>A | CA2649316114 | NPHS2 | c.452-47C>T (n.452-47C>T) c.275-47C>T (n.275-47C>T) c.379-47C>T (n.379-47C>T) | gnomAD v4 |
1 | g.179559808G>T | CA2649316116 | NPHS2 | c.452-47C>A (n.452-47C>A) c.275-47C>A (n.275-47C>A) c.379-47C>A (n.379-47C>A) | gnomAD v4 |
1 | g.179559809C>A | CA2649316119 | NPHS2 | c.452-48G>T (n.452-48G>T) c.275-48G>T (n.275-48G>T) c.379-48G>T (n.379-48G>T) | gnomAD v4 |
1 | g.179559809C>G | CA2649316120 | NPHS2 | c.452-48G>C (n.452-48G>C) c.275-48G>C (n.275-48G>C) c.379-48G>C (n.379-48G>C) | gnomAD v4 |
1 | g.179559809C>T | CA2649316121 | NPHS2 | c.452-48G>A (n.452-48G>A) c.275-48G>A (n.275-48G>A) c.379-48G>A (n.379-48G>A) | gnomAD v4 |
1 | g.179559810T>A | CA1210320332 | NPHS2 | c.452-49A>T (n.452-49A>T) c.275-49A>T (n.275-49A>T) c.379-49A>T (n.379-49A>T) | dbSNP |
1 | g.179559810T= | CA1210320331 | NPHS2 | c.452-49A= (n.452-49A=) c.275-49A= (n.275-49A=) c.379-49A= (n.379-49A=) | |
1 | g.179559810_179559811insTTCAT | CA2649316122 | NPHS2 | c.452-49_452-48insTGAAA (n.452-49_452-48insTGAAA) c.275-49_275-48insTGAAA (n.275-49_275-48insTGAAA) c.379-49_379-48insTGAAA (n.379-49_379-48insTGAAA) | gnomAD v4 |
1 | g.179559811G>A | CA2649316125 | NPHS2 | c.452-50C>T (n.452-50C>T) c.275-50C>T (n.275-50C>T) c.379-50C>T (n.379-50C>T) | gnomAD v4 |
1 | g.179559811G>T | CA2649316124 | NPHS2 | c.452-50C>A (n.452-50C>A) c.275-50C>A (n.275-50C>A) c.379-50C>A (n.379-50C>A) | gnomAD v4 |
1 | g.179559812T>C | CA2649316126 | NPHS2 | c.452-51A>G (n.452-51A>G) c.275-51A>G (n.275-51A>G) c.379-51A>G (n.379-51A>G) | gnomAD v4 |
1 | g.179559814_179559852del | CA2649316127 | NPHS2 | c.452-89_452-51del (n.452-89_452-51del) c.275-89_275-51del (n.275-89_275-51del) c.379-89_379-51del (n.379-89_379-51del) | gnomAD v4 |
1 | g.179559813T>A | CA2649316128 | NPHS2 | c.452-52A>T (n.452-52A>T) c.275-52A>T (n.275-52A>T) c.379-52A>T (n.379-52A>T) | gnomAD v4 |
1 | g.179559814T>C | CA2649316131 | NPHS2 | c.452-53A>G (n.452-53A>G) c.275-53A>G (n.275-53A>G) c.379-53A>G (n.379-53A>G) | gnomAD v4 |
1 | g.179559814_179559815insATCT | CA2649316130 | NPHS2 | c.452-53_452-52insGATA (n.452-53_452-52insGATA) c.275-53_275-52insGATA (n.275-53_275-52insGATA) c.379-53_379-52insGATA (n.379-53_379-52insGATA) | gnomAD v4 |
1 | g.179559815G>T | CA2649316132 | NPHS2 | c.452-54C>A (n.452-54C>A) c.275-54C>A (n.275-54C>A) c.379-54C>A (n.379-54C>A) | gnomAD v4 |
1 | g.179559816G>A | CA2649316134 | NPHS2 | c.452-55C>T (n.452-55C>T) c.275-55C>T (n.275-55C>T) c.379-55C>T (n.379-55C>T) | gnomAD v4 |
1 | g.179559816G>T | CA2649316133 | NPHS2 | c.452-55C>A (n.452-55C>A) c.275-55C>A (n.275-55C>A) c.379-55C>A (n.379-55C>A) | gnomAD v4 |
1 | g.179559817G>A | CA2649316138 | NPHS2 | c.452-56C>T (n.452-56C>T) c.275-56C>T (n.275-56C>T) c.379-56C>T (n.379-56C>T) | gnomAD v4 |
1 | g.179559821C>A | CA2649316139 | NPHS2 | c.452-60G>T (n.452-60G>T) c.275-60G>T (n.275-60G>T) c.379-60G>T (n.379-60G>T) | gnomAD v4 |
1 | g.179559821C>T | CA2649316140 | NPHS2 | c.452-60G>A (n.452-60G>A) c.275-60G>A (n.275-60G>A) c.379-60G>A (n.379-60G>A) | gnomAD v4 |
1 | g.179559824C>A | CA2649316141 | NPHS2 | c.452-63G>T (n.452-63G>T) c.275-63G>T (n.275-63G>T) c.379-63G>T (n.379-63G>T) | gnomAD v4 |
1 | g.179559824C= | CA1210320333 | NPHS2 | c.452-63G= (n.452-63G=) c.275-63G= (n.275-63G=) c.379-63G= (n.379-63G=) | |
1 | g.179559824C>T | CA1210320334 | NPHS2 | c.452-63G>A (n.452-63G>A) c.275-63G>A (n.275-63G>A) c.379-63G>A (n.379-63G>A) | dbSNP gnomAD v4 |
1 | g.179559825T>C | CA1210320335 | NPHS2 | c.452-64A>G (n.452-64A>G) c.275-64A>G (n.275-64A>G) c.379-64A>G (n.379-64A>G) | dbSNP gnomAD v4 |
1 | g.179559825T= | CA1210320336 | NPHS2 | c.452-64A= (n.452-64A=) c.275-64A= (n.275-64A=) c.379-64A= (n.379-64A=) | |
1 | g.179559827T>C | CA2573959225 | NPHS2 | c.452-66A>G (n.452-66A>G) c.275-66A>G (n.275-66A>G) c.379-66A>G (n.379-66A>G) | |
1 | g.179559829T>C | CA2573959244 | NPHS2 | c.452-68A>G (n.452-68A>G) c.275-68A>G (n.275-68A>G) c.379-68A>G (n.379-68A>G) | |
1 | g.179559830G>T | CA2573959260 | NPHS2 | c.452-69C>A (n.452-69C>A) c.275-69C>A (n.275-69C>A) c.379-69C>A (n.379-69C>A) | gnomAD v4 |
1 | g.179559831G>A | CA2573959262 | NPHS2 | c.452-70C>T (n.452-70C>T) c.275-70C>T (n.275-70C>T) c.379-70C>T (n.379-70C>T) | gnomAD v4 |
1 | g.179559831G>T | CA2649316145 | NPHS2 | c.452-70C>A (n.452-70C>A) c.275-70C>A (n.275-70C>A) c.379-70C>A (n.379-70C>A) | gnomAD v4 |
1 | g.179559832G>A | CA2649316148 | NPHS2 | c.452-71C>T (n.452-71C>T) c.275-71C>T (n.275-71C>T) c.379-71C>T (n.379-71C>T) | gnomAD v4 |
1 | g.179559832G>C | CA33699803 | NPHS2 | c.452-71C>G (n.452-71C>G) c.275-71C>G (n.275-71C>G) c.379-71C>G (n.379-71C>G) | dbSNP gnomAD v4 |
1 | g.179559832G= | CA1210320337 | NPHS2 | c.452-71C= (n.452-71C=) c.275-71C= (n.275-71C=) c.379-71C= (n.379-71C=) | |
1 | g.179559832G>T | CA891818420 | NPHS2 | c.452-71C>A (n.452-71C>A) c.275-71C>A (n.275-71C>A) c.379-71C>A (n.379-71C>A) | dbSNP gnomAD v4 |
1 | g.179559833G>A | CA1009660174 | NPHS2 | c.452-72C>T (n.452-72C>T) c.275-72C>T (n.275-72C>T) c.379-72C>T (n.379-72C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559833G= | CA1210320338 | NPHS2 | c.452-72C= (n.452-72C=) c.275-72C= (n.275-72C=) c.379-72C= (n.379-72C=) | |
1 | g.179559833G>T | CA2573959283 | NPHS2 | c.452-72C>A (n.452-72C>A) c.275-72C>A (n.275-72C>A) c.379-72C>A (n.379-72C>A) | gnomAD v4 |
1 | g.179559834T>A | CA33699814 | NPHS2 | c.452-73A>T (n.452-73A>T) c.275-73A>T (n.275-73A>T) c.379-73A>T (n.379-73A>T) | dbSNP |
1 | g.179559834T= | CA1140100437 | NPHS2 | c.452-73A= (n.452-73A=) c.275-73A= (n.275-73A=) c.379-73A= (n.379-73A=) | |
1 | g.179559835C>A | CA2649316157 | NPHS2 | c.452-74G>T (n.452-74G>T) c.275-74G>T (n.275-74G>T) c.379-74G>T (n.379-74G>T) | gnomAD v4 |
1 | g.179559835_179559836insTGT | CA2649316159 | NPHS2 | c.452-75_452-74insACA (n.452-75_452-74insACA) c.275-75_275-74insACA (n.275-75_275-74insACA) c.379-75_379-74insACA (n.379-75_379-74insACA) | gnomAD v4 |
1 | g.179559836A>G | CA2649316160 | NPHS2 | c.452-75T>C (n.452-75T>C) c.275-75T>C (n.275-75T>C) c.379-75T>C (n.379-75T>C) | gnomAD v4 |
1 | g.179559837G>T | CA2649316162 | NPHS2 | c.452-76C>A (n.452-76C>A) c.275-76C>A (n.275-76C>A) c.379-76C>A (n.379-76C>A) | gnomAD v4 |