Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49061567T>A | CA406805794 | NTF4 | c.431A>T (p.Asp144Val) c.243+188A>T (n.243+188A>T) c.461A>T (p.Asp154Val) n.476A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061567T>C | CA406805801 | NTF4 | c.431A>G (p.Asp144Gly) c.243+188A>G (n.243+188A>G) c.461A>G (p.Asp154Gly) n.476A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061567T>G | CA406805797 | NTF4 | c.431A>C (p.Asp144Ala) c.243+188A>C (n.243+188A>C) c.461A>C (p.Asp154Ala) n.476A>C | |
19 | g.49061567T= | CA2340217336 | NTF4 | c.431A= (p.Asp144=) c.243+188A= (n.243+188A=) c.461A= (p.Asp154=) n.476A= | |
19 | g.49061568C>A | CA406805804 | NTF4 | c.430G>T (p.Asp144Tyr) c.430G>T c.243+187G>T (n.243+187G>T) c.460G>T (p.Asp154Tyr) n.475G>T | |
19 | g.49061568C>G | CA406805818 | NTF4 | c.430G>C (p.Asp144His) c.430G>C c.243+187G>C (n.243+187G>C) c.460G>C (p.Asp154His) n.475G>C | |
19 | g.49061568C>T | CA406805817 | NTF4 | c.430G>A (p.Asp144Asn) c.430G>A c.243+187G>A (n.243+187G>A) c.460G>A (p.Asp154Asn) n.475G>A | |
19 | g.49061569A= | CA2340217337 | NTF4 | c.429T= (p.Ala143=) c.243+186T= (n.243+186T=) c.459T= (p.Ala153=) n.474T= | |
19 | g.49061569A>C | CA508279039 | NTF4 | c.429T>G (p.Ala143=) c.243+186T>G (n.243+186T>G) c.459T>G (p.Ala153=) n.474T>G | |
19 | g.49061569A>G | CA508279041 | NTF4 | c.429T>C (p.Ala143=) c.243+186T>C (n.243+186T>C) c.459T>C (p.Ala153=) n.474T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061569A>T | CA508279040 | NTF4 | c.429T>A (p.Ala143=) c.243+186T>A (n.243+186T>A) c.459T>A (p.Ala153=) n.474T>A | |
19 | g.49061570G>A | CA406805819 | NTF4 | c.428C>T (p.Ala143Val) c.243+185C>T (n.243+185C>T) c.458C>T (p.Ala153Val) n.473C>T | |
19 | g.49061570G>C | CA406805820 | NTF4 | c.428C>G (p.Ala143Gly) c.243+185C>G (n.243+185C>G) c.458C>G (p.Ala153Gly) n.473C>G | |
19 | g.49061570G>T | CA406805823 | NTF4 | c.428C>A (p.Ala143Asp) c.243+185C>A (n.243+185C>A) c.458C>A (p.Ala153Asp) n.473C>A | |
19 | g.49061571C>A | CA406805826 | NTF4 | c.427G>T (p.Ala143Ser) c.243+184G>T (n.243+184G>T) c.457G>T (p.Ala153Ser) n.472G>T | gnomAD v4 |
19 | g.49061571C= | CA2340217338 | NTF4 | c.427G= (p.Ala143=) c.243+184G= (n.243+184G=) c.457G= (p.Ala153=) n.472G= | |
19 | g.49061571C>G | CA406805831 | NTF4 | c.427G>C (p.Ala143Pro) c.243+184G>C (n.243+184G>C) c.457G>C (p.Ala153Pro) n.472G>C | gnomAD v4 |
19 | g.49061571C>T | CA9565636 | NTF4 | c.427G>A (p.Ala143Thr) c.243+184G>A (n.243+184G>A) c.457G>A (p.Ala153Thr) n.472G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061572C>A | CA406805836 | NTF4 | c.426G>T (p.Lys142Asn) c.243+183G>T (n.243+183G>T) c.456G>T (p.Lys152Asn) n.471G>T | |
19 | g.49061572C>G | CA406805839 | NTF4 | c.426G>C (p.Lys142Asn) c.243+183G>C (n.243+183G>C) c.456G>C (p.Lys152Asn) n.471G>C | |
19 | g.49061572C>T | CA508279049 | NTF4 | c.426G>A (p.Lys142=) c.243+183G>A (n.243+183G>A) c.456G>A (p.Lys152=) n.471G>A | |
19 | g.49061573T>A | CA406805845 | NTF4 | c.425A>T (p.Lys142Met) c.243+182A>T (n.243+182A>T) c.455A>T (p.Lys152Met) n.470A>T | |
19 | g.49061573T>C | CA406805850 | NTF4 | c.425A>G (p.Lys142Arg) c.243+182A>G (n.243+182A>G) c.455A>G (p.Lys152Arg) n.470A>G | gnomAD v4 |
19 | g.49061573T>G | CA406805853 | NTF4 | c.425A>C (p.Lys142Thr) c.243+182A>C (n.243+182A>C) c.455A>C (p.Lys152Thr) n.470A>C | |
19 | g.49061574T>A | CA406805862 | NTF4 | c.424A>T (p.Lys142Ter) c.243+181A>T (n.243+181A>T) c.454A>T (p.Lys152Ter) n.469A>T | |
19 | g.49061574T>C | CA406805860 | NTF4 | c.424A>G (p.Lys142Glu) c.243+181A>G (n.243+181A>G) c.454A>G (p.Lys152Glu) n.469A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061574T>G | CA406805856 | NTF4 | c.424A>C (p.Lys142Gln) c.243+181A>C (n.243+181A>C) c.454A>C (p.Lys152Gln) n.469A>C | |
19 | g.49061574T= | CA2340217339 | NTF4 | c.424A= (p.Lys142=) c.243+181A= (n.243+181A=) c.454A= (p.Lys152=) n.469A= | |
19 | g.49061575G>A | CA508279054 | NTF4 | c.423C>T (p.Cys141=) c.243+180C>T (n.243+180C>T) c.453C>T (p.Cys151=) n.468C>T | |
19 | g.49061575G>C | CA406805865 | NTF4 | c.423C>G (p.Cys141Trp) c.243+180C>G (n.243+180C>G) c.453C>G (p.Cys151Trp) n.468C>G | |
19 | g.49061575G>T | CA406805868 | NTF4 | c.423C>A (p.Cys141Ter) c.243+180C>A (n.243+180C>A) c.453C>A (p.Cys151Ter) n.468C>A | gnomAD v4 |
19 | g.49061576C>A | CA406805871 | NTF4 | c.422G>T (p.Cys141Phe) c.243+179G>T (n.243+179G>T) c.452G>T (p.Cys151Phe) n.467G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061576C= | CA2340217340 | NTF4 | c.422G= (p.Cys141=) c.243+179G= (n.243+179G=) c.452G= (p.Cys151=) n.467G= | |
19 | g.49061576C>G | CA406805874 | NTF4 | c.422G>C (p.Cys141Ser) c.243+179G>C (n.243+179G>C) c.452G>C (p.Cys151Ser) n.467G>C | |
19 | g.49061576C>T | CA406805875 | NTF4 | c.422G>A (p.Cys141Tyr) c.243+179G>A (n.243+179G>A) c.452G>A (p.Cys151Tyr) n.467G>A | COSMIC |
19 | g.49061577A= | CA2340217341 | NTF4 | c.421T= (p.Cys141=) c.243+178T= (n.243+178T=) c.451T= (p.Cys151=) n.466T= | |
19 | g.49061577A>C | CA406805880 | NTF4 | c.421T>G (p.Cys141Gly) c.243+178T>G (n.243+178T>G) c.451T>G (p.Cys151Gly) n.466T>G | |
19 | g.49061577A>G | CA406805895 | NTF4 | c.421T>C (p.Cys141Arg) c.243+178T>C (n.243+178T>C) c.451T>C (p.Cys151Arg) n.466T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061577A>T | CA406805902 | NTF4 | c.421T>A (p.Cys141Ser) c.243+178T>A (n.243+178T>A) c.451T>A (p.Cys151Ser) n.466T>A | |
19 | g.49061578G>A | CA508279061 | NTF4 | c.420C>T (p.Arg140=) c.243+177C>T (n.243+177C>T) c.450C>T (p.Arg150=) n.465C>T | |
19 | g.49061578G>C | CA508279062 | NTF4 | c.420C>G (p.Arg140=) c.243+177C>G (n.243+177C>G) c.450C>G (p.Arg150=) n.465C>G | |
19 | g.49061578G>T | CA508279063 | NTF4 | c.420C>A (p.Arg140=) c.243+177C>A (n.243+177C>A) c.450C>A (p.Arg150=) n.465C>A | |
19 | g.49061579C>A | CA406805907 | NTF4 | c.419G>T (p.Arg140Leu) c.243+176G>T (n.243+176G>T) c.449G>T (p.Arg150Leu) n.464G>T | gnomAD v4 |
19 | g.49061579C= | CA2340217342 | NTF4 | c.419G= (p.Arg140=) c.243+176G= (n.243+176G=) c.449G= (p.Arg150=) n.464G= | |
19 | g.49061579C>G | CA406805909 | NTF4 | c.419G>C (p.Arg140Pro) c.243+176G>C (n.243+176G>C) c.449G>C (p.Arg150Pro) n.464G>C | |
19 | g.49061579C>T | CA9565637 | NTF4 | c.419G>A (p.Arg140His) c.243+176G>A (n.243+176G>A) c.449G>A (p.Arg150His) n.464G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49061579_49061580insT | CA309446675 | NTF4 | c.418_419insA (p.Arg140GlnfsTer5) c.418_419insA (p.Arg140GlnfsTer?) c.243+175_243+176insA (n.243+175_243+176insA) c.448_449insA (p.Arg150GlnfsTer5) n.463_464insA | dbSNP |
19 | g.49061580G>A | CA9565638 | NTF4 | c.418C>T (p.Arg140Cys) c.243+175C>T (n.243+175C>T) c.448C>T (p.Arg150Cys) n.463C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061580G>C | CA406805918 | NTF4 | c.418C>G (p.Arg140Gly) c.243+175C>G (n.243+175C>G) c.448C>G (p.Arg150Gly) n.463C>G | gnomAD v4 |
19 | g.49061580G= | CA2340217343 | NTF4 | c.418C= (p.Arg140=) c.243+175C= (n.243+175C=) c.448C= (p.Arg150=) n.463C= | |
19 | g.49061580G>T | CA9565639 | NTF4 | c.418C>A (p.Arg140Ser) c.243+175C>A (n.243+175C>A) c.448C>A (p.Arg150Ser) n.463C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061582dup | CA2586311532 | NTF4 | c.418dup (p.Arg140ProfsTer5) c.418dup (p.Arg140ProfsTer?) c.243+175dup (n.243+175dup) c.448dup (p.Arg150ProfsTer5) n.463dup | gnomAD v4 |
19 | g.49061581G>A | CA508279066 | NTF4 | c.417C>T (p.Thr139=) c.243+174C>T (n.243+174C>T) c.447C>T (p.Thr149=) n.462C>T | |
19 | g.49061581G>C | CA508279067 | NTF4 | c.417C>G (p.Thr139=) c.243+174C>G (n.243+174C>G) c.447C>G (p.Thr149=) n.462C>G | |
19 | g.49061581G= | CA2340217344 | NTF4 | c.417C= (p.Thr139=) c.243+174C= (n.243+174C=) c.447C= (p.Thr149=) n.462C= | |
19 | g.49061581G>T | CA309446690 | NTF4 | c.417C>A (p.Thr139=) c.243+174C>A (n.243+174C>A) c.447C>A (p.Thr149=) n.462C>A | dbSNP |
19 | g.49061582G>A | CA406805927 | NTF4 | c.416C>T (p.Thr139Ile) c.243+173C>T (n.243+173C>T) c.446C>T (p.Thr149Ile) n.461C>T | |
19 | g.49061582G>C | CA406805943 | NTF4 | c.416C>G (p.Thr139Ser) c.243+173C>G (n.243+173C>G) c.446C>G (p.Thr149Ser) n.461C>G | |
19 | g.49061582G>T | CA406805946 | NTF4 | c.416C>A (p.Thr139Asn) c.243+173C>A (n.243+173C>A) c.446C>A (p.Thr149Asn) n.461C>A | |
19 | g.49061583T>A | CA406805949 | NTF4 | c.415A>T (p.Thr139Ser) c.243+172A>T (n.243+172A>T) c.445A>T (p.Thr149Ser) n.460A>T | |
19 | g.49061583T>C | CA406805950 | NTF4 | c.415A>G (p.Thr139Ala) c.243+172A>G (n.243+172A>G) c.445A>G (p.Thr149Ala) n.460A>G | |
19 | g.49061583T>G | CA406805951 | NTF4 | c.415A>C (p.Thr139Pro) c.243+172A>C (n.243+172A>C) c.445A>C (p.Thr149Pro) n.460A>C | |
19 | g.49061584T>A | CA406805952 | NTF4 | c.414A>T (p.Glu138Asp) c.243+171A>T (n.243+171A>T) c.444A>T (p.Glu148Asp) n.459A>T | gnomAD v4 |
19 | g.49061584T>C | CA508279072 | NTF4 | c.414A>G (p.Glu138=) c.243+171A>G (n.243+171A>G) c.444A>G (p.Glu148=) n.459A>G | |
19 | g.49061584T>G | CA406805955 | NTF4 | c.414A>C (p.Glu138Asp) c.243+171A>C (n.243+171A>C) c.444A>C (p.Glu148Asp) n.459A>C | |
19 | g.49061585T>A | CA406805958 | NTF4 | c.413A>T (p.Glu138Val) c.243+170A>T (n.243+170A>T) c.443A>T (p.Glu148Val) n.458A>T | gnomAD v4 |
19 | g.49061585T>C | CA406805959 | NTF4 | c.413A>G (p.Glu138Gly) c.243+170A>G (n.243+170A>G) c.443A>G (p.Glu148Gly) n.458A>G | |
19 | g.49061585T>G | CA406805963 | NTF4 | c.413A>C (p.Glu138Ala) c.243+170A>C (n.243+170A>C) c.443A>C (p.Glu148Ala) n.458A>C | |
19 | g.49061586C>A | CA406805974 | NTF4 | c.412G>T (p.Glu138Ter) c.243+169G>T (n.243+169G>T) c.442G>T (p.Glu148Ter) n.457G>T | |
19 | g.49061586C>G | CA406805969 | NTF4 | c.412G>C (p.Glu138Gln) c.243+169G>C (n.243+169G>C) c.442G>C (p.Glu148Gln) n.457G>C | |
19 | g.49061586C>T | CA406805971 | NTF4 | c.412G>A (p.Glu138Lys) c.243+169G>A (n.243+169G>A) c.442G>A (p.Glu148Lys) n.457G>A | |
19 | g.49061587A= | CA2340217345 | NTF4 | c.411T= (p.Phe137=) c.243+168T= (n.243+168T=) c.441T= (p.Phe147=) n.456T= | |
19 | g.49061587A>C | CA406805976 | NTF4 | c.411T>G (p.Phe137Leu) c.243+168T>G (n.243+168T>G) c.441T>G (p.Phe147Leu) n.456T>G | |
19 | g.49061587A>G | CA9565640 | NTF4 | c.411T>C (p.Phe137=) c.243+168T>C (n.243+168T>C) c.441T>C (p.Phe147=) n.456T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061587A>T | CA406805981 | NTF4 | c.411T>A (p.Phe137Leu) c.243+168T>A (n.243+168T>A) c.441T>A (p.Phe147Leu) n.456T>A | |
19 | g.49061588A>C | CA406805983 | NTF4 | c.410T>G (p.Phe137Cys) c.243+167T>G (n.243+167T>G) c.440T>G (p.Phe147Cys) n.455T>G | |
19 | g.49061588A>G | CA406805989 | NTF4 | c.410T>C (p.Phe137Ser) c.243+167T>C (n.243+167T>C) c.440T>C (p.Phe147Ser) n.455T>C | |
19 | g.49061588A>T | CA406805991 | NTF4 | c.410T>A (p.Phe137Tyr) c.243+167T>A (n.243+167T>A) c.440T>A (p.Phe147Tyr) n.455T>A | |
19 | g.49061589A= | CA2340217346 | NTF4 | c.409T= (p.Phe137=) c.243+166T= (n.243+166T=) c.439T= (p.Phe147=) n.454T= | |
19 | g.49061589A>C | CA9565641 | NTF4 | c.409T>G (p.Phe137Val) c.243+166T>G (n.243+166T>G) c.439T>G (p.Phe147Val) n.454T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061589A>G | CA406805994 | NTF4 | c.409T>C (p.Phe137Leu) c.243+166T>C (n.243+166T>C) c.439T>C (p.Phe147Leu) n.454T>C | dbSNP |
19 | g.49061589A>T | CA406805995 | NTF4 | c.409T>A (p.Phe137Ile) c.243+166T>A (n.243+166T>A) c.439T>A (p.Phe147Ile) n.454T>A | |
19 | g.49061590G>A | CA508279081 | NTF4 | c.408C>T (p.Phe136=) c.243+165C>T (n.243+165C>T) c.438C>T (p.Phe146=) n.453C>T | dbSNP |
19 | g.49061590G>C | CA406805998 | NTF4 | c.408C>G (p.Phe136Leu) c.243+165C>G (n.243+165C>G) c.438C>G (p.Phe146Leu) n.453C>G | |
19 | g.49061590G= | CA2340217347 | NTF4 | c.408C= (p.Phe136=) c.243+165C= (n.243+165C=) c.438C= (p.Phe146=) n.453C= | |
19 | g.49061590G>T | CA406806000 | NTF4 | c.408C>A (p.Phe136Leu) c.243+165C>A (n.243+165C>A) c.438C>A (p.Phe146Leu) n.453C>A | |
19 | g.49061591A>C | CA406806008 | NTF4 | c.407T>G (p.Phe136Cys) c.243+164T>G (n.243+164T>G) c.437T>G (p.Phe146Cys) n.452T>G | |
19 | g.49061591A>G | CA406806007 | NTF4 | c.407T>C (p.Phe136Ser) c.243+164T>C (n.243+164T>C) c.437T>C (p.Phe146Ser) n.452T>C | |
19 | g.49061591A>T | CA406806003 | NTF4 | c.407T>A (p.Phe136Tyr) c.243+164T>A (n.243+164T>A) c.437T>A (p.Phe146Tyr) n.452T>A | |
19 | g.49061592A= | CA2340217348 | NTF4 | c.406T= (p.Phe136=) c.243+163T= (n.243+163T=) c.436T= (p.Phe146=) n.451T= | |
19 | g.49061592A>C | CA406806009 | NTF4 | c.406T>G (p.Phe136Val) c.243+163T>G (n.243+163T>G) c.436T>G (p.Phe146Val) n.451T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061592A>G | CA406806011 | NTF4 | c.406T>C (p.Phe136Leu) c.243+163T>C (n.243+163T>C) c.436T>C (p.Phe146Leu) n.451T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061592A>T | CA406806010 | NTF4 | c.406T>A (p.Phe136Ile) c.243+163T>A (n.243+163T>A) c.436T>A (p.Phe146Ile) n.451T>A | |
19 | g.49061593G>A | CA508279085 | NTF4 | c.405C>T (p.Tyr135=) c.243+162C>T (n.243+162C>T) c.435C>T (p.Tyr145=) n.450C>T | gnomAD v4 |
19 | g.49061593G>C | CA406806014 | NTF4 | c.405C>G (p.Tyr135Ter) c.243+162C>G (n.243+162C>G) c.435C>G (p.Tyr145Ter) n.450C>G | |
19 | g.49061593G>T | CA406806017 | NTF4 | c.405C>A (p.Tyr135Ter) c.243+162C>A (n.243+162C>A) c.435C>A (p.Tyr145Ter) n.450C>A | gnomAD v4 |
19 | g.49061594T>A | CA406806020 | NTF4 | c.404A>T (p.Tyr135Phe) c.243+161A>T (n.243+161A>T) c.434A>T (p.Tyr145Phe) n.449A>T | |
19 | g.49061594T>C | CA406806023 | NTF4 | c.404A>G (p.Tyr135Cys) c.243+161A>G (n.243+161A>G) c.434A>G (p.Tyr145Cys) n.449A>G | COSMIC |
19 | g.49061594T>G | CA406806029 | NTF4 | c.404A>C (p.Tyr135Ser) c.243+161A>C (n.243+161A>C) c.434A>C (p.Tyr145Ser) n.449A>C | |
19 | g.49061595A>C | CA406806033 | NTF4 | c.403T>G (p.Tyr135Asp) c.243+160T>G (n.243+160T>G) c.433T>G (p.Tyr145Asp) n.448T>G | |
19 | g.49061595A>G | CA406806035 | NTF4 | c.403T>C (p.Tyr135His) c.243+160T>C (n.243+160T>C) c.433T>C (p.Tyr145His) n.448T>C | gnomAD v4 |
19 | g.49061595A>T | CA406806039 | NTF4 | c.403T>A (p.Tyr135Asn) c.243+160T>A (n.243+160T>A) c.433T>A (p.Tyr145Asn) n.448T>A | |
19 | g.49061596C>A | CA406806041 | NTF4 | c.402G>T (p.Gln134His) c.243+159G>T (n.243+159G>T) c.432G>T (p.Gln144His) n.447G>T | |
19 | g.49061596C>G | CA406806043 | NTF4 | c.402G>C (p.Gln134His) c.243+159G>C (n.243+159G>C) c.432G>C (p.Gln144His) n.447G>C | |
19 | g.49061596C>T | CA508279093 | NTF4 | c.402G>A (p.Gln134=) c.243+159G>A (n.243+159G>A) c.432G>A (p.Gln144=) n.447G>A | gnomAD v4 |
19 | g.49061597T>A | CA406806052 | NTF4 | c.401A>T (p.Gln134Leu) c.243+158A>T (n.243+158A>T) c.431A>T (p.Gln144Leu) n.446A>T | |
19 | g.49061597T>C | CA406806049 | NTF4 | c.401A>G (p.Gln134Arg) c.243+158A>G (n.243+158A>G) c.431A>G (p.Gln144Arg) n.446A>G | |
19 | g.49061597T>G | CA406806047 | NTF4 | c.401A>C (p.Gln134Pro) c.243+158A>C (n.243+158A>C) c.431A>C (p.Gln144Pro) n.446A>C | |
19 | g.49061598G>A | CA406806053 | NTF4 | c.400C>T (p.Gln134Ter) c.243+157C>T (n.243+157C>T) c.430C>T (p.Gln144Ter) n.445C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061598G>C | CA406806054 | NTF4 | c.400C>G (p.Gln134Glu) c.243+157C>G (n.243+157C>G) c.430C>G (p.Gln144Glu) n.445C>G | |
19 | g.49061598G= | CA2340217349 | NTF4 | c.400C= (p.Gln134=) c.243+157C= (n.243+157C=) c.430C= (p.Gln144=) n.445C= | |
19 | g.49061598G>T | CA406806062 | NTF4 | c.400C>A (p.Gln134Lys) c.243+157C>A (n.243+157C>A) c.430C>A (p.Gln144Lys) n.445C>A | |
19 | g.49061599G>A | CA508279099 | NTF4 | c.399C>T (p.Arg133=) c.243+156C>T (n.243+156C>T) c.429C>T (p.Arg143=) n.444C>T | |
19 | g.49061599G>C | CA508279097 | NTF4 | c.399C>G (p.Arg133=) c.243+156C>G (n.243+156C>G) c.429C>G (p.Arg143=) n.444C>G | |
19 | g.49061599G>T | CA508279098 | NTF4 | c.399C>A (p.Arg133=) c.243+156C>A (n.243+156C>A) c.429C>A (p.Arg143=) n.444C>A | |
19 | g.49061600C>A | CA406806063 | NTF4 | c.398G>T (p.Arg133Leu) c.243+155G>T (n.243+155G>T) c.428G>T (p.Arg143Leu) n.443G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061600C= | CA2340217350 | NTF4 | c.398G= (p.Arg133=) c.243+155G= (n.243+155G=) c.428G= (p.Arg143=) n.443G= | |
19 | g.49061600C>G | CA406806064 | NTF4 | c.398G>C (p.Arg133Pro) c.243+155G>C (n.243+155G>C) c.428G>C (p.Arg143Pro) n.443G>C | |
19 | g.49061600C>T | CA309446694 | NTF4 | c.398G>A (p.Arg133His) c.243+155G>A (n.243+155G>A) c.428G>A (p.Arg143His) n.443G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061601G>A | CA9565642 | NTF4 | c.397C>T (p.Arg133Cys) c.243+154C>T (n.243+154C>T) c.427C>T (p.Arg143Cys) n.442C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061601G>C | CA406806074 | NTF4 | c.397C>G (p.Arg133Gly) c.243+154C>G (n.243+154C>G) c.427C>G (p.Arg143Gly) n.442C>G | gnomAD v4 |
19 | g.49061601G= | CA2340217351 | NTF4 | c.397C= (p.Arg133=) c.243+154C= (n.243+154C=) c.427C= (p.Arg143=) n.442C= | |
19 | g.49061601G>T | CA406806078 | NTF4 | c.397C>A (p.Arg133Ser) c.243+154C>A (n.243+154C>A) c.427C>A (p.Arg143Ser) n.442C>A | dbSNP gnomAD v4 |
19 | g.49061602G>A | CA508279103 | NTF4 | c.396C>T (p.Leu132=) c.243+153C>T (n.243+153C>T) c.426C>T (p.Leu142=) n.441C>T | gnomAD v4 |
19 | g.49061602G>C | CA508279106 | NTF4 | c.396C>G (p.Leu132=) c.243+153C>G (n.243+153C>G) c.426C>G (p.Leu142=) n.441C>G | |
19 | g.49061602G>T | CA508279107 | NTF4 | c.396C>A (p.Leu132=) c.243+153C>A (n.243+153C>A) c.426C>A (p.Leu142=) n.441C>A | |
19 | g.49061603A>C | CA406806081 | NTF4 | c.395T>G (p.Leu132Arg) c.243+152T>G (n.243+152T>G) c.425T>G (p.Leu142Arg) n.440T>G | |
19 | g.49061603A>G | CA406806084 | NTF4 | c.395T>C (p.Leu132Pro) c.243+152T>C (n.243+152T>C) c.425T>C (p.Leu142Pro) n.440T>C | |
19 | g.49061603A>T | CA406806087 | NTF4 | c.395T>A (p.Leu132His) c.243+152T>A (n.243+152T>A) c.425T>A (p.Leu142His) n.440T>A | |
19 | g.49061604G>A | CA406806092 | NTF4 | c.394C>T (p.Leu132Phe) c.243+151C>T (n.243+151C>T) c.424C>T (p.Leu142Phe) n.439C>T | |
19 | g.49061604G>C | CA406806097 | NTF4 | c.394C>G (p.Leu132Val) c.243+151C>G (n.243+151C>G) c.424C>G (p.Leu142Val) n.439C>G | gnomAD v4 |
19 | g.49061604G>T | CA406806091 | NTF4 | c.394C>A (p.Leu132Ile) c.243+151C>A (n.243+151C>A) c.424C>A (p.Leu142Ile) n.439C>A | |
19 | g.49061605G>A | CA508279111 | NTF4 | c.393C>T (p.Pro131=) c.243+150C>T (n.243+150C>T) c.423C>T (p.Pro141=) n.438C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061605G>C | CA508279113 | NTF4 | c.393C>G (p.Pro131=) c.243+150C>G (n.243+150C>G) c.423C>G (p.Pro141=) n.438C>G | |
19 | g.49061605G= | CA2340217352 | NTF4 | c.393C= (p.Pro131=) c.243+150C= (n.243+150C=) c.423C= (p.Pro141=) n.438C= | |
19 | g.49061605G>T | CA508279112 | NTF4 | c.393C>A (p.Pro131=) c.243+150C>A (n.243+150C>A) c.423C>A (p.Pro141=) n.438C>A | |
19 | g.49061605_49061606insTTTTTTAATGATAC | CA2512455321 | NTF4 | c.392_393insGTATCATTAAAAAA (p.Leu132TyrfsTer3) c.243+149_243+150insGTATCATTAAAAAA (n.243+149_243+150insGTATCATTAAAAAA) c.422_423insGTATCATTAAAAAA (p.Leu142TyrfsTer3) n.437_438insGTATCATTAAAAAA | |
19 | g.49061606G>A | CA406806101 | NTF4 | c.392C>T (p.Pro131Leu) c.243+149C>T (n.243+149C>T) c.422C>T (p.Pro141Leu) n.437C>T | |
19 | g.49061606G>C | CA406806104 | NTF4 | c.392C>G (p.Pro131Arg) c.243+149C>G (n.243+149C>G) c.422C>G (p.Pro141Arg) n.437C>G | |
19 | g.49061606G>T | CA406806106 | NTF4 | c.392C>A (p.Pro131His) c.243+149C>A (n.243+149C>A) c.422C>A (p.Pro141His) n.437C>A | |
19 | g.49061607G>A | CA9565643 | NTF4 | c.391C>T (p.Pro131Ser) c.243+148C>T (n.243+148C>T) c.421C>T (p.Pro141Ser) n.436C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061607G>C | CA406806111 | NTF4 | c.391C>G (p.Pro131Ala) c.243+148C>G (n.243+148C>G) c.421C>G (p.Pro141Ala) n.436C>G | |
19 | g.49061607G= | CA2340217353 | NTF4 | c.391C= (p.Pro131=) c.243+148C= (n.243+148C=) c.421C= (p.Pro141=) n.436C= | |
19 | g.49061607G>T | CA406806114 | NTF4 | c.391C>A (p.Pro131Thr) c.243+148C>A (n.243+148C>A) c.421C>A (p.Pro141Thr) n.436C>A | |
19 | g.49061608A= | CA2340217354 | NTF4 | c.390T= (p.Ser130=) c.243+147T= (n.243+147T=) c.420T= (p.Ser140=) n.435T= | |
19 | g.49061608A>C | CA406806121 | NTF4 | c.390T>G (p.Ser130Arg) c.243+147T>G (n.243+147T>G) c.420T>G (p.Ser140Arg) n.435T>G | |
19 | g.49061608A>G | CA309446700 | NTF4 | c.390T>C (p.Ser130=) c.243+147T>C (n.243+147T>C) c.420T>C (p.Ser140=) n.435T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061608A>T | CA406806118 | NTF4 | c.390T>A (p.Ser130Arg) c.243+147T>A (n.243+147T>A) c.420T>A (p.Ser140Arg) n.435T>A | |
19 | g.49061608_49061612del | CA2569421475 | NTF4 | c.386_390del (p.Gly129AlafsTer8) c.243+143_243+147del (n.243+143_243+147del) c.416_420del (p.Gly139AlafsTer8) n.431_435del | |
19 | g.49061609C>A | CA406806127 | NTF4 | c.389G>T (p.Ser130Ile) c.243+146G>T (n.243+146G>T) c.419G>T (p.Ser140Ile) n.434G>T | |
19 | g.49061609C>G | CA406806128 | NTF4 | c.389G>C (p.Ser130Thr) c.243+146G>C (n.243+146G>C) c.419G>C (p.Ser140Thr) n.434G>C | |
19 | g.49061609C>T | CA406806133 | NTF4 | c.389G>A (p.Ser130Asn) c.243+146G>A (n.243+146G>A) c.419G>A (p.Ser140Asn) n.434G>A | |
19 | g.49061610T>A | CA406806138 | NTF4 | c.388A>T (p.Ser130Cys) c.243+145A>T (n.243+145A>T) c.418A>T (p.Ser140Cys) n.433A>T | |
19 | g.49061610T>C | CA406806141 | NTF4 | c.388A>G (p.Ser130Gly) c.243+145A>G (n.243+145A>G) c.418A>G (p.Ser140Gly) n.433A>G | |
19 | g.49061610T>G | CA406806144 | NTF4 | c.388A>C (p.Ser130Arg) c.243+145A>C (n.243+145A>C) c.418A>C (p.Ser140Arg) n.433A>C | |
19 | g.49061611G>A | CA508279118 | NTF4 | c.387C>T (p.Gly129=) c.243+144C>T (n.243+144C>T) c.417C>T (p.Gly139=) n.432C>T | |
19 | g.49061611G>C | CA508279120 | NTF4 | c.387C>G (p.Gly129=) c.243+144C>G (n.243+144C>G) c.417C>G (p.Gly139=) n.432C>G | |
19 | g.49061611G>T | CA508279119 | NTF4 | c.387C>A (p.Gly129=) c.243+144C>A (n.243+144C>A) c.417C>A (p.Gly139=) n.432C>A | |
19 | g.49061612C>A | CA406806147 | NTF4 | c.386G>T (p.Gly129Val) c.243+143G>T (n.243+143G>T) c.416G>T (p.Gly139Val) n.431G>T | |
19 | g.49061612C>G | CA406806157 | NTF4 | c.386G>C (p.Gly129Ala) c.243+143G>C (n.243+143G>C) c.416G>C (p.Gly139Ala) n.431G>C | |
19 | g.49061612C>T | CA406806155 | NTF4 | c.386G>A (p.Gly129Asp) c.243+143G>A (n.243+143G>A) c.416G>A (p.Gly139Asp) n.431G>A | |
19 | g.49061613C>A | CA406806159 | NTF4 | c.385G>T (p.Gly129Cys) c.243+142G>T (n.243+142G>T) c.415G>T (p.Gly139Cys) n.430G>T | dbSNP COSMIC |
19 | g.49061613C= | CA2340217355 | NTF4 | c.385G= (p.Gly129=) c.243+142G= (n.243+142G=) c.415G= (p.Gly139=) n.430G= | |
19 | g.49061613C>G | CA406806163 | NTF4 | c.385G>C (p.Gly129Arg) c.243+142G>C (n.243+142G>C) c.415G>C (p.Gly139Arg) n.430G>C | |
19 | g.49061613C>T | CA406806165 | NTF4 | c.385G>A (p.Gly129Ser) c.243+142G>A (n.243+142G>A) c.415G>A (p.Gly139Ser) n.430G>A | dbSNP gnomAD v4 |
19 | g.49061614G>A | CA9565644 | NTF4 | c.384C>T (p.Gly128=) c.243+141C>T (n.243+141C>T) c.414C>T (p.Gly138=) n.429C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061614G>C | CA508279123 | NTF4 | c.384C>G (p.Gly128=) c.243+141C>G (n.243+141C>G) c.414C>G (p.Gly138=) n.429C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061614G= | CA2340217356 | NTF4 | c.384C= (p.Gly128=) c.243+141C= (n.243+141C=) c.414C= (p.Gly138=) n.429C= | |
19 | g.49061614G>T | CA9565645 | NTF4 | c.384C>A (p.Gly128=) c.243+141C>A (n.243+141C>A) c.414C>A (p.Gly138=) n.429C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061614dup | CA883075187 | NTF4 | c.384dup (p.Gly129ArgfsTer10) c.243+141dup (n.243+141dup) c.414dup (p.Gly139ArgfsTer10) n.429dup | dbSNP |
19 | g.49061614_49061615insA | CA2525347824 | NTF4 | c.383_384insT (p.Gly129ArgfsTer10) c.243+140_243+141insT (n.243+140_243+141insT) c.413_414insT (p.Gly139ArgfsTer10) n.428_429insT | |
19 | g.49061615C>A | CA406806183 | NTF4 | c.383G>T (p.Gly128Val) c.243+140G>T (n.243+140G>T) c.413G>T (p.Gly138Val) n.428G>T | |
19 | g.49061615C>G | CA406806186 | NTF4 | c.383G>C (p.Gly128Ala) c.243+140G>C (n.243+140G>C) c.413G>C (p.Gly138Ala) n.428G>C | |
19 | g.49061615C>T | CA406806189 | NTF4 | c.383G>A (p.Gly128Asp) c.243+140G>A (n.243+140G>A) c.413G>A (p.Gly138Asp) n.428G>A | gnomAD v4 |
19 | g.49061616C>A | CA406806193 | NTF4 | c.382G>T (p.Gly128Cys) c.243+139G>T (n.243+139G>T) c.412G>T (p.Gly138Cys) n.427G>T | |
19 | g.49061616C>G | CA406806197 | NTF4 | c.382G>C (p.Gly128Arg) c.243+139G>C (n.243+139G>C) c.412G>C (p.Gly138Arg) n.427G>C | |
19 | g.49061616C>T | CA406806204 | NTF4 | c.382G>A (p.Gly128Ser) c.243+139G>A (n.243+139G>A) c.412G>A (p.Gly138Ser) n.427G>A | |
19 | g.49061617A= | CA2340217357 | NTF4 | c.381T= (p.Ala127=) c.243+138T= (n.243+138T=) c.411T= (p.Ala137=) n.426T= | |
19 | g.49061617A>C | CA508279127 | NTF4 | c.381T>G (p.Ala127=) c.243+138T>G (n.243+138T>G) c.411T>G (p.Ala137=) n.426T>G | |
19 | g.49061617A>G | CA9565646 | NTF4 | c.381T>C (p.Ala127=) c.243+138T>C (n.243+138T>C) c.411T>C (p.Ala137=) n.426T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061617A>T | CA508279128 | NTF4 | c.381T>A (p.Ala127=) c.243+138T>A (n.243+138T>A) c.411T>A (p.Ala137=) n.426T>A | |
19 | g.49061618del | CA2545088563 | NTF4 | c.380del (p.Ala127ValfsTer?) c.243+137del (n.243+137del) c.410del (p.Ala137ValfsTer?) n.425del | |
19 | g.49061618G>A | CA9565647 | NTF4 | c.380C>T (p.Ala127Val) c.243+137C>T (n.243+137C>T) c.410C>T (p.Ala137Val) n.425C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061618G>C | CA406806215 | NTF4 | c.380C>G (p.Ala127Gly) c.243+137C>G (n.243+137C>G) c.410C>G (p.Ala137Gly) n.425C>G | |
19 | g.49061618G= | CA2340217358 | NTF4 | c.380C= (p.Ala127=) c.243+137C= (n.243+137C=) c.410C= (p.Ala137=) n.425C= | |
19 | g.49061618G>T | CA406806211 | NTF4 | c.380C>A (p.Ala127Asp) c.243+137C>A (n.243+137C>A) c.410C>A (p.Ala137Asp) n.425C>A | |
19 | g.49061619C>A | CA309446728 | NTF4 | c.379G>T (p.Ala127Ser) c.243+136G>T (n.243+136G>T) c.409G>T (p.Ala137Ser) n.424G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061619C= | CA2340217359 | NTF4 | c.379G= (p.Ala127=) c.243+136G= (n.243+136G=) c.409G= (p.Ala137=) n.424G= | |
19 | g.49061619C>G | CA406806232 | NTF4 | c.379G>C (p.Ala127Pro) c.243+136G>C (n.243+136G>C) c.409G>C (p.Ala137Pro) n.424G>C | |
19 | g.49061619C>T | CA406806229 | NTF4 | c.379G>A (p.Ala127Thr) c.243+136G>A (n.243+136G>A) c.409G>A (p.Ala137Thr) n.424G>A | |
19 | g.49061619_49061629del | CA2814676592 | NTF4 | c.369_379del (p.Glu123AspfsTer12) c.243+126_243+136del (n.243+126_243+136del) c.399_409del (p.Glu133AspfsTer12) n.414_424del | |
19 | g.49061620T>A | CA508279136 | NTF4 | c.378A>T (p.Ala126=) c.243+135A>T (n.243+135A>T) c.408A>T (p.Ala136=) n.423A>T | |
19 | g.49061620T>C | CA508279132 | NTF4 | c.378A>G (p.Ala126=) c.243+135A>G (n.243+135A>G) c.408A>G (p.Ala136=) n.423A>G | gnomAD v4 |
19 | g.49061620T>G | CA508279134 | NTF4 | c.378A>C (p.Ala126=) c.243+135A>C (n.243+135A>C) c.408A>C (p.Ala136=) n.423A>C | |
19 | g.49061621G>A | CA406806234 | NTF4 | c.377C>T (p.Ala126Val) c.243+134C>T (n.243+134C>T) c.407C>T (p.Ala136Val) n.422C>T | gnomAD v4 |
19 | g.49061621G>C | CA406806251 | NTF4 | c.377C>G (p.Ala126Gly) c.243+134C>G (n.243+134C>G) c.407C>G (p.Ala136Gly) n.422C>G | |
19 | g.49061621G>T | CA406806245 | NTF4 | c.377C>A (p.Ala126Glu) c.243+134C>A (n.243+134C>A) c.407C>A (p.Ala136Glu) n.422C>A | gnomAD v4 |
19 | g.49061622del | CA2553927339 | NTF4 | c.376del (p.Ala126GlnfsTer?) c.243+133del (n.243+133del) c.406del (p.Ala136GlnfsTer?) n.421del | |
19 | g.49061622C>A | CA406806266 | NTF4 | c.376G>T (p.Ala126Ser) c.243+133G>T (n.243+133G>T) c.406G>T (p.Ala136Ser) n.421G>T | |
19 | g.49061622C= | CA2340217360 | NTF4 | c.376G= (p.Ala126=) c.243+133G= (n.243+133G=) c.406G= (p.Ala136=) n.421G= | |
19 | g.49061622C>G | CA406806270 | NTF4 | c.376G>C (p.Ala126Pro) c.243+133G>C (n.243+133G>C) c.406G>C (p.Ala136Pro) n.421G>C | |
19 | g.49061622C>T | CA9565648 | NTF4 | c.376G>A (p.Ala126Thr) c.243+133G>A (n.243+133G>A) c.406G>A (p.Ala136Thr) n.421G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061623A>C | CA508279138 | NTF4 | c.375T>G (p.Pro125=) c.243+132T>G (n.243+132T>G) c.405T>G (p.Pro135=) n.420T>G | |
19 | g.49061623A>G | CA508279140 | NTF4 | c.375T>C (p.Pro125=) c.243+132T>C (n.243+132T>C) c.405T>C (p.Pro135=) n.420T>C | |
19 | g.49061623A>T | CA508279142 | NTF4 | c.375T>A (p.Pro125=) c.243+132T>A (n.243+132T>A) c.405T>A (p.Pro135=) n.420T>A | |
19 | g.49061624G>A | CA406806274 | NTF4 | c.374C>T (p.Pro125Leu) c.243+131C>T (n.243+131C>T) c.404C>T (p.Pro135Leu) n.419C>T | |
19 | g.49061624G>C | CA406806287 | NTF4 | c.374C>G (p.Pro125Arg) c.243+131C>G (n.243+131C>G) c.404C>G (p.Pro135Arg) n.419C>G | |
19 | g.49061624G>T | CA406806292 | NTF4 | c.374C>A (p.Pro125His) c.243+131C>A (n.243+131C>A) c.404C>A (p.Pro135His) n.419C>A | |
19 | g.49061625G>A | CA406806301 | NTF4 | c.373C>T (p.Pro125Ser) c.243+130C>T (n.243+130C>T) c.403C>T (p.Pro135Ser) n.418C>T | |
19 | g.49061625G>C | CA406806302 | NTF4 | c.373C>G (p.Pro125Ala) c.243+130C>G (n.243+130C>G) c.403C>G (p.Pro135Ala) n.418C>G | |
19 | g.49061625G>T | CA406806303 | NTF4 | c.373C>A (p.Pro125Thr) c.243+130C>A (n.243+130C>A) c.403C>A (p.Pro135Thr) n.418C>A | |
19 | g.49061625_49061626del | CA2560929024 | NTF4 | c.372_373del (p.Pro125CysfsTer13) c.243+129_243+130del (n.243+129_243+130del) c.402_403del (p.Pro135CysfsTer13) n.417_418del | |
19 | g.49061626C>A | CA508279143 | NTF4 | c.372G>T (p.Val124=) c.243+129G>T (n.243+129G>T) c.402G>T (p.Val134=) n.417G>T | gnomAD v4 |
19 | g.49061626C= | CA2340217361 | NTF4 | c.372G= (p.Val124=) c.243+129G= (n.243+129G=) c.402G= (p.Val134=) n.417G= | |
19 | g.49061626C>G | CA508279145 | NTF4 | c.372G>C (p.Val124=) c.243+129G>C (n.243+129G>C) c.402G>C (p.Val134=) n.417G>C | |
19 | g.49061626C>T | CA9565649 | NTF4 | c.372G>A (p.Val124=) c.243+129G>A (n.243+129G>A) c.402G>A (p.Val134=) n.417G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061627A>C | CA406806308 | NTF4 | c.371T>G (p.Val124Gly) c.243+128T>G (n.243+128T>G) c.401T>G (p.Val134Gly) n.416T>G | |
19 | g.49061627A>G | CA406806309 | NTF4 | c.371T>C (p.Val124Ala) c.243+128T>C (n.243+128T>C) c.401T>C (p.Val134Ala) n.416T>C | gnomAD v4 |
19 | g.49061627A>T | CA406806311 | NTF4 | c.371T>A (p.Val124Glu) c.243+128T>A (n.243+128T>A) c.401T>A (p.Val134Glu) n.416T>A | |
19 | g.49061628C>A | CA406806315 | NTF4 | c.370G>T (p.Val124Leu) c.243+127G>T (n.243+127G>T) c.400G>T (p.Val134Leu) n.415G>T | dbSNP |
19 | g.49061628C= | CA2340217362 | NTF4 | c.370G= (p.Val124=) c.243+127G= (n.243+127G=) c.400G= (p.Val134=) n.415G= | |
19 | g.49061628C>G | CA406806313 | NTF4 | c.370G>C (p.Val124Leu) c.243+127G>C (n.243+127G>C) c.400G>C (p.Val134Leu) n.415G>C | |
19 | g.49061628C>T | CA406806314 | NTF4 | c.370G>A (p.Val124Met) c.243+127G>A (n.243+127G>A) c.400G>A (p.Val134Met) n.415G>A | |
19 | g.49061629C>A | CA406806316 | NTF4 | c.369G>T (p.Glu123Asp) c.243+126G>T (n.243+126G>T) c.399G>T (p.Glu133Asp) n.414G>T | gnomAD v4 |
19 | g.49061629C>G | CA406806318 | NTF4 | c.369G>C (p.Glu123Asp) c.243+126G>C (n.243+126G>C) c.399G>C (p.Glu133Asp) n.414G>C | |
19 | g.49061629C>T | CA508279146 | NTF4 | c.369G>A (p.Glu123=) c.243+126G>A (n.243+126G>A) c.399G>A (p.Glu133=) n.414G>A | gnomAD v4 |
19 | g.49061630T>A | CA406806320 | NTF4 | c.368A>T (p.Glu123Val) c.243+125A>T (n.243+125A>T) c.398A>T (p.Glu133Val) n.413A>T | |
19 | g.49061630T>C | CA406806322 | NTF4 | c.368A>G (p.Glu123Gly) c.243+125A>G (n.243+125A>G) c.398A>G (p.Glu133Gly) n.413A>G | |
19 | g.49061630T>G | CA406806325 | NTF4 | c.368A>C (p.Glu123Ala) c.243+125A>C (n.243+125A>C) c.398A>C (p.Glu133Ala) n.413A>C | |
19 | g.49061631C>A | CA406806328 | NTF4 | c.367G>T (p.Glu123Ter) c.243+124G>T (n.243+124G>T) c.397G>T (p.Glu133Ter) n.412G>T | |
19 | g.49061631C= | CA2340217363 | NTF4 | c.367G= (p.Glu123=) c.243+124G= (n.243+124G=) c.397G= (p.Glu133=) n.412G= | |
19 | g.49061631C>G | CA9565651 | NTF4 | c.367G>C (p.Glu123Gln) c.243+124G>C (n.243+124G>C) c.397G>C (p.Glu133Gln) n.412G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061631C>T | CA9565650 | NTF4 | c.367G>A (p.Glu123Lys) c.243+124G>A (n.243+124G>A) c.397G>A (p.Glu133Lys) n.412G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061631_49061636del | CA2568055095 | NTF4 | c.362_367del (p.Leu121Ter) c.243+119_243+124del (n.243+119_243+124del) c.392_397del (p.Leu131Ter) n.407_412del | |
19 | g.49061632del | CA2814676593 | NTF4 | c.366del (p.Glu123ArgfsTer?) c.243+123del (n.243+123del) c.396del (p.Glu133ArgfsTer?) n.411del | |
19 | g.49061632G>A | CA9565652 | NTF4 | c.366C>T (p.Gly122=) c.243+123C>T (n.243+123C>T) c.396C>T (p.Gly132=) n.411C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061632G>C | CA508279150 | NTF4 | c.366C>G (p.Gly122=) c.243+123C>G (n.243+123C>G) c.396C>G (p.Gly132=) n.411C>G | |
19 | g.49061632G= | CA2340217364 | NTF4 | c.366C= (p.Gly122=) c.243+123C= (n.243+123C=) c.396C= (p.Gly132=) n.411C= | |
19 | g.49061632G>T | CA508279151 | NTF4 | c.366C>A (p.Gly122=) c.243+123C>A (n.243+123C>A) c.396C>A (p.Gly132=) n.411C>A | |
19 | g.49061633C>A | CA406806336 | NTF4 | c.365G>T (p.Gly122Val) c.243+122G>T (n.243+122G>T) c.395G>T (p.Gly132Val) n.410G>T | |
19 | g.49061633C>G | CA406806339 | NTF4 | c.365G>C (p.Gly122Ala) c.243+122G>C (n.243+122G>C) c.395G>C (p.Gly132Ala) n.410G>C | |
19 | g.49061633C>T | CA406806341 | NTF4 | c.365G>A (p.Gly122Asp) c.243+122G>A (n.243+122G>A) c.395G>A (p.Gly132Asp) n.410G>A | |
19 | g.49061634C>A | CA406806345 | NTF4 | c.364G>T (p.Gly122Cys) c.243+121G>T (n.243+121G>T) c.394G>T (p.Gly132Cys) n.409G>T | |
19 | g.49061634C>G | CA406806349 | NTF4 | c.364G>C (p.Gly122Arg) c.243+121G>C (n.243+121G>C) c.394G>C (p.Gly132Arg) n.409G>C | |
19 | g.49061634C>T | CA406806347 | NTF4 | c.364G>A (p.Gly122Ser) c.243+121G>A (n.243+121G>A) c.394G>A (p.Gly132Ser) n.409G>A | |
19 | g.49061635C>A | CA406806352 | NTF4 | c.363G>T (p.Leu121Phe) c.243+120G>T (n.243+120G>T) c.393G>T (p.Leu131Phe) n.408G>T | |
19 | g.49061635C>G | CA406806355 | NTF4 | c.363G>C (p.Leu121Phe) c.243+120G>C (n.243+120G>C) c.393G>C (p.Leu131Phe) n.408G>C | |
19 | g.49061635C>T | CA508279154 | NTF4 | c.363G>A (p.Leu121=) c.243+120G>A (n.243+120G>A) c.393G>A (p.Leu131=) n.408G>A | gnomAD v4 |
19 | g.49061636A>C | CA406806356 | NTF4 | c.362T>G (p.Leu121Trp) c.243+119T>G (n.243+119T>G) c.392T>G (p.Leu131Trp) n.407T>G | |
19 | g.49061636A>G | CA406806357 | NTF4 | c.362T>C (p.Leu121Ser) c.243+119T>C (n.243+119T>C) c.392T>C (p.Leu131Ser) n.407T>C | |
19 | g.49061636A>T | CA406806358 | NTF4 | c.362T>A (p.Leu121Ter) c.243+119T>A (n.243+119T>A) c.392T>A (p.Leu131Ter) n.407T>A | |
19 | g.49061637A= | CA2340217365 | NTF4 | c.361T= (p.Leu121=) c.243+118T= (n.243+118T=) c.391T= (p.Leu131=) n.406T= | |
19 | g.49061637A>C | CA406806360 | NTF4 | c.361T>G (p.Leu121Val) c.243+118T>G (n.243+118T>G) c.391T>G (p.Leu131Val) n.406T>G | |
19 | g.49061637A>G | CA9565653 | NTF4 | c.361T>C (p.Leu121=) c.243+118T>C (n.243+118T>C) c.391T>C (p.Leu131=) n.406T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061637A>T | CA406806363 | NTF4 | c.361T>A (p.Leu121Met) c.243+118T>A (n.243+118T>A) c.391T>A (p.Leu131Met) n.406T>A | |
19 | g.49061638C>A | CA508279155 | NTF4 | c.360G>T (p.Val120=) c.243+117G>T (n.243+117G>T) c.390G>T (p.Val130=) n.405G>T | |
19 | g.49061638C>G | CA508279156 | NTF4 | c.360G>C (p.Val120=) c.243+117G>C (n.243+117G>C) c.390G>C (p.Val130=) n.405G>C | |
19 | g.49061638C>T | CA508279157 | NTF4 | c.360G>A (p.Val120=) c.243+117G>A (n.243+117G>A) c.390G>A (p.Val130=) n.405G>A | |
19 | g.49061639A>C | CA406806366 | NTF4 | c.359T>G (p.Val120Gly) c.243+116T>G (n.243+116T>G) c.389T>G (p.Val130Gly) n.404T>G | |
19 | g.49061639A>G | CA406806367 | NTF4 | c.359T>C (p.Val120Ala) c.243+116T>C (n.243+116T>C) c.389T>C (p.Val130Ala) n.404T>C | |
19 | g.49061639A>T | CA406806370 | NTF4 | c.359T>A (p.Val120Glu) c.243+116T>A (n.243+116T>A) c.389T>A (p.Val130Glu) n.404T>A | gnomAD v4 |
19 | g.49061640C>A | CA406806378 | NTF4 | c.358G>T (p.Val120Leu) c.243+115G>T (n.243+115G>T) c.388G>T (p.Val130Leu) n.403G>T | gnomAD v4 |
19 | g.49061640C>G | CA406806377 | NTF4 | c.358G>C (p.Val120Leu) c.243+115G>C (n.243+115G>C) c.388G>C (p.Val130Leu) n.403G>C | gnomAD v4 |
19 | g.49061640C>T | CA406806374 | NTF4 | c.358G>A (p.Val120Met) c.243+115G>A (n.243+115G>A) c.388G>A (p.Val130Met) n.403G>A | |
19 | g.49061641C>A | CA406806379 | NTF4 | c.357G>T (p.Glu119Asp) c.243+114G>T (n.243+114G>T) c.387G>T (p.Glu129Asp) n.402G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061641C= | CA2340217366 | NTF4 | c.357G= (p.Glu119=) c.243+114G= (n.243+114G=) c.387G= (p.Glu129=) n.402G= | |
19 | g.49061641C>G | CA406806380 | NTF4 | c.357G>C (p.Glu119Asp) c.243+114G>C (n.243+114G>C) c.387G>C (p.Glu129Asp) n.402G>C | |
19 | g.49061641C>T | CA508279160 | NTF4 | c.357G>A (p.Glu119=) c.243+114G>A (n.243+114G>A) c.387G>A (p.Glu129=) n.402G>A | |
19 | g.49061642T>A | CA406806381 | NTF4 | c.356A>T (p.Glu119Val) c.243+113A>T (n.243+113A>T) c.386A>T (p.Glu129Val) n.401A>T | |
19 | g.49061642T>C | CA406806384 | NTF4 | c.356A>G (p.Glu119Gly) c.243+113A>G (n.243+113A>G) c.386A>G (p.Glu129Gly) n.401A>G | |
19 | g.49061642T>G | CA406806387 | NTF4 | c.356A>C (p.Glu119Ala) c.243+113A>C (n.243+113A>C) c.386A>C (p.Glu129Ala) n.401A>C | |
19 | g.49061643C>A | CA406806390 | NTF4 | c.355G>T (p.Glu119Ter) c.243+112G>T (n.243+112G>T) c.385G>T (p.Glu129Ter) n.400G>T | |
19 | g.49061643C>G | CA406806397 | NTF4 | c.355G>C (p.Glu119Gln) c.243+112G>C (n.243+112G>C) c.385G>C (p.Glu129Gln) n.400G>C | |
19 | g.49061643C>T | CA406806399 | NTF4 | c.355G>A (p.Glu119Lys) c.243+112G>A (n.243+112G>A) c.385G>A (p.Glu129Lys) n.400G>A | |
19 | g.49061644C>A | CA508279164 | NTF4 | c.354G>T (p.Val118=) c.243+111G>T (n.243+111G>T) c.384G>T (p.Val128=) n.399G>T | |
19 | g.49061644C>G | CA508279165 | NTF4 | c.354G>C (p.Val118=) c.243+111G>C (n.243+111G>C) c.384G>C (p.Val128=) n.399G>C | |
19 | g.49061644C>T | CA508279166 | NTF4 | c.354G>A (p.Val118=) c.243+111G>A (n.243+111G>A) c.384G>A (p.Val128=) n.399G>A | |
19 | g.49061645A>C | CA406806402 | NTF4 | c.353T>G (p.Val118Gly) c.243+110T>G (n.243+110T>G) c.383T>G (p.Val128Gly) n.398T>G | |
19 | g.49061645A>G | CA406806405 | NTF4 | c.353T>C (p.Val118Ala) c.243+110T>C (n.243+110T>C) c.383T>C (p.Val128Ala) n.398T>C | |
19 | g.49061645A>T | CA406806407 | NTF4 | c.353T>A (p.Val118Glu) c.243+110T>A (n.243+110T>A) c.383T>A (p.Val128Glu) n.398T>A | |
19 | g.49061646C>A | CA406806415 | NTF4 | c.352G>T (p.Val118Leu) c.243+109G>T (n.243+109G>T) c.382G>T (p.Val128Leu) n.397G>T | |
19 | g.49061646C= | CA2340217367 | NTF4 | c.352G= (p.Val118=) c.243+109G= (n.243+109G=) c.382G= (p.Val128=) n.397G= | |
19 | g.49061646C>G | CA9565654 | NTF4 | c.352G>C (p.Val118Leu) c.243+109G>C (n.243+109G>C) c.382G>C (p.Val128Leu) n.397G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061646C>T | CA309446732 | NTF4 | c.352G>A (p.Val118Met) c.243+109G>A (n.243+109G>A) c.382G>A (p.Val128Met) n.397G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061647C>A | CA406806417 | NTF4 | c.351G>T (p.Glu117Asp) c.243+108G>T (n.243+108G>T) c.381G>T (p.Glu127Asp) n.396G>T | |
19 | g.49061647C>G | CA406806419 | NTF4 | c.351G>C (p.Glu117Asp) c.243+108G>C (n.243+108G>C) c.381G>C (p.Glu127Asp) n.396G>C | |
19 | g.49061647C>T | CA508279170 | NTF4 | c.351G>A (p.Glu117=) c.243+108G>A (n.243+108G>A) c.381G>A (p.Glu127=) n.396G>A | |
19 | g.49061648T>A | CA406806425 | NTF4 | c.350A>T (p.Glu117Val) c.243+107A>T (n.243+107A>T) c.380A>T (p.Glu127Val) n.395A>T | |
19 | g.49061648T>C | CA406806427 | NTF4 | c.350A>G (p.Glu117Gly) c.243+107A>G (n.243+107A>G) c.380A>G (p.Glu127Gly) n.395A>G | |
19 | g.49061648T>G | CA406806430 | NTF4 | c.350A>C (p.Glu117Ala) c.243+107A>C (n.243+107A>C) c.380A>C (p.Glu127Ala) n.395A>C | |
19 | g.49061649C>A | CA406806437 | NTF4 | c.349G>T (p.Glu117Ter) c.243+106G>T (n.243+106G>T) c.379G>T (p.Glu127Ter) n.394G>T | |
19 | g.49061649C= | CA2340217368 | NTF4 | c.349G= (p.Glu117=) c.243+106G= (n.243+106G=) c.379G= (p.Glu127=) n.394G= | |
19 | g.49061649C>G | CA406806434 | NTF4 | c.349G>C (p.Glu117Gln) c.243+106G>C (n.243+106G>C) c.379G>C (p.Glu127Gln) n.394G>C | gnomAD v4 |
19 | g.49061649C>T | CA9565655 | NTF4 | c.349G>A (p.Glu117Lys) c.243+106G>A (n.243+106G>A) c.379G>A (p.Glu127Lys) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061650G>A | CA508279171 | NTF4 | c.348C>T (p.Arg116=) c.243+105C>T (n.243+105C>T) c.378C>T (p.Arg126=) n.393C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061650G>C | CA508279172 | NTF4 | c.348C>G (p.Arg116=) c.243+105C>G (n.243+105C>G) c.378C>G (p.Arg126=) n.393C>G | |
19 | g.49061650G= | CA2340217369 | NTF4 | c.348C= (p.Arg116=) c.243+105C= (n.243+105C=) c.378C= (p.Arg126=) n.393C= | |
19 | g.49061650G>T | CA508279173 | NTF4 | c.348C>A (p.Arg116=) c.243+105C>A (n.243+105C>A) c.378C>A (p.Arg126=) n.393C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061651C>A | CA406806443 | NTF4 | c.347G>T (p.Arg116Leu) c.243+104G>T (n.243+104G>T) c.377G>T (p.Arg126Leu) n.392G>T | gnomAD v4 |
19 | g.49061651C= | CA2340217370 | NTF4 | c.347G= (p.Arg116=) c.243+104G= (n.243+104G=) c.377G= (p.Arg126=) n.392G= | |
19 | g.49061651C>G | CA406806444 | NTF4 | c.347G>C (p.Arg116Pro) c.243+104G>C (n.243+104G>C) c.377G>C (p.Arg126Pro) n.392G>C | |
19 | g.49061651C>T | CA9565656 | NTF4 | c.347G>A (p.Arg116His) c.243+104G>A (n.243+104G>A) c.377G>A (p.Arg126His) n.392G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061652G>A | CA406806449 | NTF4 | c.346C>T (p.Arg116Cys) c.243+103C>T (n.243+103C>T) c.376C>T (p.Arg126Cys) n.391C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061652G>C | CA406806450 | NTF4 | c.346C>G (p.Arg116Gly) c.243+103C>G (n.243+103C>G) c.376C>G (p.Arg126Gly) n.391C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061652G= | CA2340217371 | NTF4 | c.346C= (p.Arg116=) c.243+103C= (n.243+103C=) c.376C= (p.Arg126=) n.391C= | |
19 | g.49061652G>T | CA406806453 | NTF4 | c.346C>A (p.Arg116Ser) c.243+103C>A (n.243+103C>A) c.376C>A (p.Arg126Ser) n.391C>A | |
19 | g.49061653C>A | CA508279177 | NTF4 | c.345G>T (p.Gly115=) c.243+102G>T (n.243+102G>T) c.375G>T (p.Gly125=) n.390G>T | |
19 | g.49061653C>G | CA508279178 | NTF4 | c.345G>C (p.Gly115=) c.243+102G>C (n.243+102G>C) c.375G>C (p.Gly125=) n.390G>C | |
19 | g.49061653C>T | CA508279179 | NTF4 | c.345G>A (p.Gly115=) c.243+102G>A (n.243+102G>A) c.375G>A (p.Gly125=) n.390G>A | |
19 | g.49061654C>A | CA406806460 | NTF4 | c.344G>T (p.Gly115Val) c.243+101G>T (n.243+101G>T) c.374G>T (p.Gly125Val) n.389G>T | dbSNP gnomAD v4 |
19 | g.49061654C= | CA2340217372 | NTF4 | c.344G= (p.Gly115=) c.243+101G= (n.243+101G=) c.374G= (p.Gly125=) n.389G= | |
19 | g.49061654C>G | CA406806455 | NTF4 | c.344G>C (p.Gly115Ala) c.243+101G>C (n.243+101G>C) c.374G>C (p.Gly125Ala) n.389G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061654C>T | CA406806458 | NTF4 | c.344G>A (p.Gly115Glu) c.243+101G>A (n.243+101G>A) c.374G>A (p.Gly125Glu) n.389G>A | |
19 | g.49061655C>A | CA406806463 | NTF4 | c.343G>T (p.Gly115Trp) c.243+100G>T (n.243+100G>T) c.373G>T (p.Gly125Trp) n.388G>T | |
19 | g.49061655C= | CA2340217373 | NTF4 | c.343G= (p.Gly115=) c.243+100G= (n.243+100G=) c.373G= (p.Gly125=) n.388G= | |
19 | g.49061655C>G | CA406806466 | NTF4 | c.343G>C (p.Gly115Arg) c.243+100G>C (n.243+100G>C) c.373G>C (p.Gly125Arg) n.388G>C | |
19 | g.49061655C>T | CA309446737 | NTF4 | c.343G>A (p.Gly115Arg) c.243+100G>A (n.243+100G>A) c.373G>A (p.Gly125Arg) n.388G>A | dbSNP |
19 | g.49061656A= | CA2340217374 | NTF4 | c.342T= (p.Arg114=) c.243+99T= (n.243+99T=) c.372T= (p.Arg124=) n.387T= | |
19 | g.49061656A>C | CA508279181 | NTF4 | c.342T>G (p.Arg114=) c.243+99T>G (n.243+99T>G) c.372T>G (p.Arg124=) n.387T>G | |
19 | g.49061656A>G | CA9565657 | NTF4 | c.342T>C (p.Arg114=) c.243+99T>C (n.243+99T>C) c.372T>C (p.Arg124=) n.387T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061656A>T | CA508279182 | NTF4 | c.342T>A (p.Arg114=) c.243+99T>A (n.243+99T>A) c.372T>A (p.Arg124=) n.387T>A | |
19 | g.49061657C>A | CA406806473 | NTF4 | c.341G>T (p.Arg114Leu) c.243+98G>T (n.243+98G>T) c.371G>T (p.Arg124Leu) n.386G>T | |
19 | g.49061657C= | CA2340217376 | NTF4 | c.341G= (p.Arg114=) c.243+98G= (n.243+98G=) c.371G= (p.Arg124=) n.386G= | |
19 | g.49061657C>G | CA406806476 | NTF4 | c.341G>C (p.Arg114Pro) c.243+98G>C (n.243+98G>C) c.371G>C (p.Arg124Pro) n.386G>C | gnomAD v4 |
19 | g.49061657C>T | CA9565658 | NTF4 | c.341G>A (p.Arg114His) c.243+98G>A (n.243+98G>A) c.371G>A (p.Arg124His) n.386G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061657_49061658delinsCG | CA2340217375 | NTF4 | c.340_341delinsCG (p.Arg114=) c.243+97_243+98delinsCG (n.243+97_243+98delinsCG) c.370_371delinsCG (p.Arg124=) n.385_386delinsCG | |
19 | g.49061658del | CA996661938 | NTF4 | c.340del (p.Arg114ValfsTer?) c.243+97del (n.243+97del) c.370del (p.Arg124ValfsTer?) n.385del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061658G>A | CA9565660 | NTF4 | c.340C>T (p.Arg114Cys) c.243+97C>T (n.243+97C>T) c.370C>T (p.Arg124Cys) n.385C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061658G>C | CA9565659 | NTF4 | c.340C>G (p.Arg114Gly) c.243+97C>G (n.243+97C>G) c.370C>G (p.Arg124Gly) n.385C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061658G= | CA2340217377 | NTF4 | c.340C= (p.Arg114=) c.243+97C= (n.243+97C=) c.370C= (p.Arg124=) n.385C= | |
19 | g.49061658G>T | CA406806480 | NTF4 | c.340C>A (p.Arg114Ser) c.243+97C>A (n.243+97C>A) c.370C>A (p.Arg124Ser) n.385C>A | |
19 | g.49061659C>A | CA406806481 | NTF4 | c.339G>T (p.Leu113Phe) c.243+96G>T (n.243+96G>T) c.369G>T (p.Leu123Phe) n.384G>T | |
19 | g.49061659C>G | CA406806482 | NTF4 | c.339G>C (p.Leu113Phe) c.243+96G>C (n.243+96G>C) c.369G>C (p.Leu123Phe) n.384G>C | |
19 | g.49061659C>T | CA508279185 | NTF4 | c.339G>A (p.Leu113=) c.243+96G>A (n.243+96G>A) c.369G>A (p.Leu123=) n.384G>A | gnomAD v4 |
19 | g.49061659dup | CA2586311533 | NTF4 | c.339dup (p.Arg114AlafsTer25) c.243+96dup (n.243+96dup) c.369dup (p.Arg124AlafsTer25) n.384dup | gnomAD v4 |
19 | g.49061660A= | CA2340217378 | NTF4 | c.338T= (p.Leu113=) c.243+95T= (n.243+95T=) c.368T= (p.Leu123=) n.383T= | |
19 | g.49061660A>C | CA406806484 | NTF4 | c.338T>G (p.Leu113Trp) c.243+95T>G (n.243+95T>G) c.368T>G (p.Leu123Trp) n.383T>G | |
19 | g.49061660A>G | CA406806487 | NTF4 | c.338T>C (p.Leu113Ser) c.243+95T>C (n.243+95T>C) c.368T>C (p.Leu123Ser) n.383T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061660A>T | CA406806486 | NTF4 | c.338T>A (p.Leu113Ter) c.243+95T>A (n.243+95T>A) c.368T>A (p.Leu123Ter) n.383T>A | |
19 | g.49061661A>C | CA406806489 | NTF4 | c.337T>G (p.Leu113Val) c.243+94T>G (n.243+94T>G) c.367T>G (p.Leu123Val) n.382T>G | |
19 | g.49061661A>G | CA508279186 | NTF4 | c.337T>C (p.Leu113=) c.243+94T>C (n.243+94T>C) c.367T>C (p.Leu123=) n.382T>C | gnomAD v4 |
19 | g.49061661A>T | CA406806491 | NTF4 | c.337T>A (p.Leu113Met) c.243+94T>A (n.243+94T>A) c.367T>A (p.Leu123Met) n.382T>A | |
19 | g.49061662G>A | CA508279187 | NTF4 | c.336C>T (p.Asp112=) c.243+93C>T (n.243+93C>T) c.366C>T (p.Asp122=) n.381C>T | |
19 | g.49061662G>C | CA406806493 | NTF4 | c.336C>G (p.Asp112Glu) c.243+93C>G (n.243+93C>G) c.366C>G (p.Asp122Glu) n.381C>G | |
19 | g.49061662G>T | CA406806494 | NTF4 | c.336C>A (p.Asp112Glu) c.243+93C>A (n.243+93C>A) c.366C>A (p.Asp122Glu) n.381C>A | gnomAD v4 |
19 | g.49061663T>A | CA406806497 | NTF4 | c.335A>T (p.Asp112Val) c.243+92A>T (n.243+92A>T) c.365A>T (p.Asp122Val) n.380A>T | |
19 | g.49061663T>C | CA406806499 | NTF4 | c.335A>G (p.Asp112Gly) c.243+92A>G (n.243+92A>G) c.365A>G (p.Asp122Gly) n.380A>G | gnomAD v4 |
19 | g.49061663T>G | CA406806501 | NTF4 | c.335A>C (p.Asp112Ala) c.243+92A>C (n.243+92A>C) c.365A>C (p.Asp122Ala) n.380A>C | |
19 | g.49061664C>A | CA406806503 | NTF4 | c.334G>T (p.Asp112Tyr) c.243+91G>T (n.243+91G>T) c.364G>T (p.Asp122Tyr) n.379G>T | gnomAD v4 |
19 | g.49061664C>G | CA406806504 | NTF4 | c.334G>C (p.Asp112His) c.243+91G>C (n.243+91G>C) c.364G>C (p.Asp122His) n.379G>C | |
19 | g.49061664C>T | CA406806506 | NTF4 | c.334G>A (p.Asp112Asn) c.243+91G>A (n.243+91G>A) c.364G>A (p.Asp122Asn) n.379G>A | |
19 | g.49061665C>A | CA508279190 | NTF4 | c.333G>T (p.Val111=) c.243+90G>T (n.243+90G>T) c.363G>T (p.Val121=) n.378G>T | gnomAD v4 |
19 | g.49061665C>G | CA508279191 | NTF4 | c.333G>C (p.Val111=) c.243+90G>C (n.243+90G>C) c.363G>C (p.Val121=) n.378G>C | |
19 | g.49061665C>T | CA508279192 | NTF4 | c.333G>A (p.Val111=) c.243+90G>A (n.243+90G>A) c.363G>A (p.Val121=) n.378G>A | |
19 | g.49061666A>C | CA406806508 | NTF4 | c.332T>G (p.Val111Gly) c.243+89T>G (n.243+89T>G) c.362T>G (p.Val121Gly) n.377T>G | |
19 | g.49061666A>G | CA406806510 | NTF4 | c.332T>C (p.Val111Ala) c.243+89T>C (n.243+89T>C) c.362T>C (p.Val121Ala) n.377T>C | |
19 | g.49061666A>T | CA406806512 | NTF4 | c.332T>A (p.Val111Glu) c.243+89T>A (n.243+89T>A) c.362T>A (p.Val121Glu) n.377T>A | |
19 | g.49061667C>A | CA406806513 | NTF4 | c.331G>T (p.Val111Leu) c.243+88G>T (n.243+88G>T) c.361G>T (p.Val121Leu) n.376G>T | |
19 | g.49061667C= | CA2340217379 | NTF4 | c.331G= (p.Val111=) c.243+88G= (n.243+88G=) c.361G= (p.Val121=) n.376G= | |
19 | g.49061667C>G | CA9565661 | NTF4 | c.331G>C (p.Val111Leu) c.243+88G>C (n.243+88G>C) c.361G>C (p.Val121Leu) n.376G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061667C>T | CA406806514 | NTF4 | c.331G>A (p.Val111Met) c.243+88G>A (n.243+88G>A) c.361G>A (p.Val121Met) n.376G>A | dbSNP gnomAD v2 gnomAD v4 |