Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.49061668A>C | CA508279194 | NTF4 | c.330T>G (p.Ala110=) c.243+87T>G (n.243+87T>G) c.360T>G (p.Ala120=) n.375T>G | |
19 | g.49061668A>G | CA508279198 | NTF4 | c.330T>C (p.Ala110=) c.243+87T>C (n.243+87T>C) c.360T>C (p.Ala120=) n.375T>C | |
19 | g.49061668A>T | CA508279197 | NTF4 | c.330T>A (p.Ala110=) c.243+87T>A (n.243+87T>A) c.360T>A (p.Ala120=) n.375T>A | |
19 | g.49061669G>A | CA406806517 | NTF4 | c.329C>T (p.Ala110Val) c.243+86C>T (n.243+86C>T) c.359C>T (p.Ala120Val) n.374C>T | |
19 | g.49061669G>C | CA406806519 | NTF4 | c.329C>G (p.Ala110Gly) c.243+86C>G (n.243+86C>G) c.359C>G (p.Ala120Gly) n.374C>G | |
19 | g.49061669G>T | CA406806521 | NTF4 | c.329C>A (p.Ala110Asp) c.243+86C>A (n.243+86C>A) c.359C>A (p.Ala120Asp) n.374C>A | |
19 | g.49061670C>A | CA309446764 | NTF4 | c.328G>T (p.Ala110Ser) c.243+85G>T (n.243+85G>T) c.358G>T (p.Ala120Ser) n.373G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061670C= | CA2340217380 | NTF4 | c.328G= (p.Ala110=) c.243+85G= (n.243+85G=) c.358G= (p.Ala120=) n.373G= | |
19 | g.49061670C>G | CA406806525 | NTF4 | c.328G>C (p.Ala110Pro) c.243+85G>C (n.243+85G>C) c.358G>C (p.Ala120Pro) n.373G>C | |
19 | g.49061670C>T | CA9565662 | NTF4 | c.328G>A (p.Ala110Thr) c.243+85G>A (n.243+85G>A) c.358G>A (p.Ala120Thr) n.373G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061671G>A | CA9565663 | NTF4 | c.327C>T (p.Thr109=) c.243+84C>T (n.243+84C>T) c.357C>T (p.Thr119=) n.372C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061671G>C | CA508279201 | NTF4 | c.327C>G (p.Thr109=) c.243+84C>G (n.243+84C>G) c.357C>G (p.Thr119=) n.372C>G | gnomAD v4 |
19 | g.49061671G= | CA2340217381 | NTF4 | c.327C= (p.Thr109=) c.243+84C= (n.243+84C=) c.357C= (p.Thr119=) n.372C= | |
19 | g.49061671G>T | CA9565664 | NTF4 | c.327C>A (p.Thr109=) c.243+84C>A (n.243+84C>A) c.357C>A (p.Thr119=) n.372C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061672G>A | CA406806529 | NTF4 | c.326C>T (p.Thr109Ile) c.243+83C>T (n.243+83C>T) c.356C>T (p.Thr119Ile) n.371C>T | dbSNP |
19 | g.49061672G>C | CA406806531 | NTF4 | c.326C>G (p.Thr109Ser) c.243+83C>G (n.243+83C>G) c.356C>G (p.Thr119Ser) n.371C>G | |
19 | g.49061672G= | CA2340217382 | NTF4 | c.326C= (p.Thr109=) c.243+83C= (n.243+83C=) c.356C= (p.Thr119=) n.371C= | |
19 | g.49061672G>T | CA406806533 | NTF4 | c.326C>A (p.Thr109Asn) c.243+83C>A (n.243+83C>A) c.356C>A (p.Thr119Asn) n.371C>A | |
19 | g.49061673T>A | CA406806537 | NTF4 | c.325A>T (p.Thr109Ser) c.243+82A>T (n.243+82A>T) c.355A>T (p.Thr119Ser) n.370A>T | |
19 | g.49061673T>C | CA406806540 | NTF4 | c.325A>G (p.Thr109Ala) c.243+82A>G (n.243+82A>G) c.355A>G (p.Thr119Ala) n.370A>G | |
19 | g.49061673T>G | CA406806536 | NTF4 | c.325A>C (p.Thr109Pro) c.243+82A>C (n.243+82A>C) c.355A>C (p.Thr119Pro) n.370A>C | |
19 | g.49061674C>A | CA508279203 | NTF4 | c.324G>T (p.Arg108=) c.243+81G>T (n.243+81G>T) c.354G>T (p.Arg118=) n.369G>T | |
19 | g.49061674C>G | CA508279205 | NTF4 | c.324G>C (p.Arg108=) c.243+81G>C (n.243+81G>C) c.354G>C (p.Arg118=) n.369G>C | |
19 | g.49061674C>T | CA508279204 | NTF4 | c.324G>A (p.Arg108=) c.243+81G>A (n.243+81G>A) c.354G>A (p.Arg118=) n.369G>A | |
19 | g.49061675C>A | CA406806544 | NTF4 | c.323G>T (p.Arg108Leu) c.243+80G>T (n.243+80G>T) c.353G>T (p.Arg118Leu) n.368G>T | |
19 | g.49061675C= | CA2340217383 | NTF4 | c.323G= (p.Arg108=) c.243+80G= (n.243+80G=) c.353G= (p.Arg118=) n.368G= | |
19 | g.49061675C>G | CA406806541 | NTF4 | c.323G>C (p.Arg108Pro) c.243+80G>C (n.243+80G>C) c.353G>C (p.Arg118Pro) n.368G>C | |
19 | g.49061675C>T | CA9565665 | NTF4 | c.323G>A (p.Arg108Gln) c.243+80G>A (n.243+80G>A) c.353G>A (p.Arg118Gln) n.368G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061676G>A | CA9565666 | NTF4 | c.322C>T (p.Arg108Trp) c.243+79C>T (n.243+79C>T) c.352C>T (p.Arg118Trp) n.367C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061676G>C | CA406806547 | NTF4 | c.322C>G (p.Arg108Gly) c.243+79C>G (n.243+79C>G) c.352C>G (p.Arg118Gly) n.367C>G | gnomAD v4 |
19 | g.49061676G= | CA2340217384 | NTF4 | c.322C= (p.Arg108=) c.243+79C= (n.243+79C=) c.352C= (p.Arg118=) n.367C= | |
19 | g.49061676G>T | CA508279209 | NTF4 | c.322C>A (p.Arg108=) c.243+79C>A (n.243+79C>A) c.352C>A (p.Arg118=) n.367C>A | |
19 | g.49061676_49061677del | CA2586311534 | NTF4 | c.321_322del (p.Arg108AspfsTer?) c.243+78_243+79del (n.243+78_243+79del) c.351_352del (p.Arg118AspfsTer?) n.366_367del | gnomAD v4 |
19 | g.49061677G>A | CA508279210 | NTF4 | c.321C>T (p.Arg107=) c.243+78C>T (n.243+78C>T) c.351C>T (p.Arg117=) n.366C>T | COSMIC |
19 | g.49061677G>C | CA508279211 | NTF4 | c.321C>G (p.Arg107=) c.243+78C>G (n.243+78C>G) c.351C>G (p.Arg117=) n.366C>G | |
19 | g.49061677G>T | CA508279212 | NTF4 | c.321C>A (p.Arg107=) c.243+78C>A (n.243+78C>A) c.351C>A (p.Arg117=) n.366C>A | |
19 | g.49061678C>A | CA406806549 | NTF4 | c.320G>T (p.Arg107Leu) c.243+77G>T (n.243+77G>T) c.350G>T (p.Arg117Leu) n.365G>T | gnomAD v4 |
19 | g.49061678C= | CA2340217385 | NTF4 | c.320G= (p.Arg107=) c.243+77G= (n.243+77G=) c.350G= (p.Arg117=) n.365G= | |
19 | g.49061678C>G | CA9565668 | NTF4 | c.320G>C (p.Arg107Pro) c.243+77G>C (n.243+77G>C) c.350G>C (p.Arg117Pro) n.365G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061678C>T | CA9565667 | NTF4 | c.320G>A (p.Arg107His) c.243+77G>A (n.243+77G>A) c.350G>A (p.Arg117His) n.365G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061679G>A | CA9565669 | NTF4 | c.319C>T (p.Arg107Cys) c.243+76C>T (n.243+76C>T) c.349C>T (p.Arg117Cys) n.364C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061679G>C | CA406806551 | NTF4 | c.319C>G (p.Arg107Gly) c.243+76C>G (n.243+76C>G) c.349C>G (p.Arg117Gly) n.364C>G | dbSNP |
19 | g.49061679G= | CA2340217386 | NTF4 | c.319C= (p.Arg107=) c.243+76C= (n.243+76C=) c.349C= (p.Arg117=) n.364C= | |
19 | g.49061679G>T | CA406806552 | NTF4 | c.319C>A (p.Arg107Ser) c.243+76C>A (n.243+76C>A) c.349C>A (p.Arg117Ser) n.364C>A | |
19 | g.49061680G>A | CA508279214 | NTF4 | c.318C>T (p.Asp106=) c.243+75C>T (n.243+75C>T) c.348C>T (p.Asp116=) n.363C>T | gnomAD v4 |
19 | g.49061680G>C | CA406806553 | NTF4 | c.318C>G (p.Asp106Glu) c.243+75C>G (n.243+75C>G) c.348C>G (p.Asp116Glu) n.363C>G | dbSNP gnomAD v2 |
19 | g.49061680G= | CA2340217387 | NTF4 | c.318C= (p.Asp106=) c.243+75C= (n.243+75C=) c.348C= (p.Asp116=) n.363C= | |
19 | g.49061680G>T | CA9565670 | NTF4 | c.318C>A (p.Asp106Glu) c.243+75C>A (n.243+75C>A) c.348C>A (p.Asp116Glu) n.363C>A | dbSNP ExAC |
19 | g.49061680_49061681insGA | CA2586311535 | NTF4 | c.317_318insTC (p.Arg107ProfsTer?) c.243+74_243+75insTC (n.243+74_243+75insTC) c.347_348insTC (p.Arg117ProfsTer?) n.362_363insTC | gnomAD v4 |
19 | g.49061681T>A | CA406806555 | NTF4 | c.317A>T (p.Asp106Val) c.243+74A>T (n.243+74A>T) c.347A>T (p.Asp116Val) n.362A>T | |
19 | g.49061681T>C | CA9565671 | NTF4 | c.317A>G (p.Asp106Gly) c.243+74A>G (n.243+74A>G) c.347A>G (p.Asp116Gly) n.362A>G | dbSNP ExAC |
19 | g.49061681T>G | CA406806554 | NTF4 | c.317A>C (p.Asp106Ala) c.243+74A>C (n.243+74A>C) c.347A>C (p.Asp116Ala) n.362A>C | |
19 | g.49061681T= | CA2340217388 | NTF4 | c.317A= (p.Asp106=) c.243+74A= (n.243+74A=) c.347A= (p.Asp116=) n.362A= | |
19 | g.49061682C>A | CA406806556 | NTF4 | c.316G>T (p.Asp106Tyr) c.243+73G>T (n.243+73G>T) c.346G>T (p.Asp116Tyr) n.361G>T | |
19 | g.49061682C>G | CA406806557 | NTF4 | c.316G>C (p.Asp106His) c.243+73G>C (n.243+73G>C) c.346G>C (p.Asp116His) n.361G>C | |
19 | g.49061682C>T | CA406806558 | NTF4 | c.316G>A (p.Asp106Asn) c.243+73G>A (n.243+73G>A) c.346G>A (p.Asp116Asn) n.361G>A | |
19 | g.49061683T>A | CA508279030 | NTF4 | c.315A>T (p.Thr105=) c.243+72A>T (n.243+72A>T) c.345A>T (p.Thr115=) n.360A>T | |
19 | g.49061683T>C | CA508279031 | NTF4 | c.315A>G (p.Thr105=) c.243+72A>G (n.243+72A>G) c.345A>G (p.Thr115=) n.360A>G | |
19 | g.49061683T>G | CA508279032 | NTF4 | c.315A>C (p.Thr105=) c.243+72A>C (n.243+72A>C) c.345A>C (p.Thr115=) n.360A>C | |
19 | g.49061684G>A | CA406806559 | NTF4 | c.314C>T (p.Thr105Ile) c.243+71C>T (n.243+71C>T) c.344C>T (p.Thr115Ile) n.359C>T | |
19 | g.49061684G>C | CA406806560 | NTF4 | c.314C>G (p.Thr105Arg) c.243+71C>G (n.243+71C>G) c.344C>G (p.Thr115Arg) n.359C>G | |
19 | g.49061684G= | CA2340217389 | NTF4 | c.314C= (p.Thr105=) c.243+71C= (n.243+71C=) c.344C= (p.Thr115=) n.359C= | |
19 | g.49061684G>T | CA9565672 | NTF4 | c.314C>A (p.Thr105Lys) c.243+71C>A (n.243+71C>A) c.344C>A (p.Thr115Lys) n.359C>A | dbSNP ExAC |
19 | g.49061685T>A | CA9565673 | NTF4 | c.313A>T (p.Thr105Ser) c.243+70A>T (n.243+70A>T) c.343A>T (p.Thr115Ser) n.358A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061685T>C | CA9565674 | NTF4 | c.313A>G (p.Thr105Ala) c.243+70A>G (n.243+70A>G) c.343A>G (p.Thr115Ala) n.358A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061685T>G | CA406806561 | NTF4 | c.313A>C (p.Thr105Pro) c.243+70A>C (n.243+70A>C) c.343A>C (p.Thr115Pro) n.358A>C | gnomAD v4 |
19 | g.49061685T= | CA2340217390 | NTF4 | c.313A= (p.Thr105=) c.243+70A= (n.243+70A=) c.343A= (p.Thr115=) n.358A= | |
19 | g.49061686C>A | CA508279036 | NTF4 | c.312G>T (p.Val104=) c.243+69G>T (n.243+69G>T) c.342G>T (p.Val114=) n.357G>T | |
19 | g.49061686C>G | CA508279037 | NTF4 | c.312G>C (p.Val104=) c.243+69G>C (n.243+69G>C) c.342G>C (p.Val114=) n.357G>C | |
19 | g.49061686C>T | CA508279038 | NTF4 | c.312G>A (p.Val104=) c.243+69G>A (n.243+69G>A) c.342G>A (p.Val114=) n.357G>A | |
19 | g.49061687A= | CA2340217391 | NTF4 | c.311T= (p.Val104=) c.243+68T= (n.243+68T=) c.341T= (p.Val114=) n.356T= | |
19 | g.49061687A>C | CA9565675 | NTF4 | c.311T>G (p.Val104Gly) c.243+68T>G (n.243+68T>G) c.341T>G (p.Val114Gly) n.356T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061687A>G | CA406806562 | NTF4 | c.311T>C (p.Val104Ala) c.243+68T>C (n.243+68T>C) c.341T>C (p.Val114Ala) n.356T>C | |
19 | g.49061687A>T | CA406806563 | NTF4 | c.311T>A (p.Val104Glu) c.243+68T>A (n.243+68T>A) c.341T>A (p.Val114Glu) n.356T>A | |
19 | g.49061688C>A | CA406806564 | NTF4 | c.310G>T (p.Val104Leu) c.243+67G>T (n.243+67G>T) c.340G>T (p.Val114Leu) n.355G>T | |
19 | g.49061688C= | CA2340217392 | NTF4 | c.310G= (p.Val104=) c.243+67G= (n.243+67G=) c.340G= (p.Val114=) n.355G= | |
19 | g.49061688C>G | CA406806565 | NTF4 | c.310G>C (p.Val104Leu) c.243+67G>C (n.243+67G>C) c.340G>C (p.Val114Leu) n.355G>C | |
19 | g.49061688C>T | CA9565676 | NTF4 | c.310G>A (p.Val104Met) c.243+67G>A (n.243+67G>A) c.340G>A (p.Val114Met) n.355G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061689C>A | CA406806566 | NTF4 | c.309G>T (p.Trp103Cys) c.243+66G>T (n.243+66G>T) c.339G>T (p.Trp113Cys) n.354G>T | |
19 | g.49061689C>G | CA406806567 | NTF4 | c.309G>C (p.Trp103Cys) c.243+66G>C (n.243+66G>C) c.339G>C (p.Trp113Cys) n.354G>C | |
19 | g.49061689C>T | CA406806568 | NTF4 | c.309G>A (p.Trp103Ter) c.243+66G>A (n.243+66G>A) c.339G>A (p.Trp113Ter) n.354G>A | COSMIC |
19 | g.49061690C>A | CA406806569 | NTF4 | c.308G>T (p.Trp103Leu) c.243+65G>T (n.243+65G>T) c.338G>T (p.Trp113Leu) n.353G>T | |
19 | g.49061690C>G | CA406806570 | NTF4 | c.308G>C (p.Trp103Ser) c.243+65G>C (n.243+65G>C) c.338G>C (p.Trp113Ser) n.353G>C | |
19 | g.49061690C>T | CA406806571 | NTF4 | c.308G>A (p.Trp103Ter) c.243+65G>A (n.243+65G>A) c.338G>A (p.Trp113Ter) n.353G>A | |
19 | g.49061691A>C | CA406806572 | NTF4 | c.307T>G (p.Trp103Gly) c.243+64T>G (n.243+64T>G) c.337T>G (p.Trp113Gly) n.352T>G | |
19 | g.49061691A>G | CA406806573 | NTF4 | c.307T>C (p.Trp103Arg) c.243+64T>C (n.243+64T>C) c.337T>C (p.Trp113Arg) n.352T>C | |
19 | g.49061691A>T | CA406806574 | NTF4 | c.307T>A (p.Trp103Arg) c.243+64T>A (n.243+64T>A) c.337T>A (p.Trp113Arg) n.352T>A | |
19 | g.49061692G>A | CA508279044 | NTF4 | c.306C>T (p.Gly102=) c.243+63C>T (n.243+63C>T) c.336C>T (p.Gly112=) n.351C>T | |
19 | g.49061692G>C | CA508279046 | NTF4 | c.306C>G (p.Gly102=) c.243+63C>G (n.243+63C>G) c.336C>G (p.Gly112=) n.351C>G | |
19 | g.49061692G>T | CA508279047 | NTF4 | c.306C>A (p.Gly102=) c.243+63C>A (n.243+63C>A) c.336C>A (p.Gly112=) n.351C>A | |
19 | g.49061693C>A | CA406806575 | NTF4 | c.305G>T (p.Gly102Val) c.243+62G>T (n.243+62G>T) c.335G>T (p.Gly112Val) n.350G>T | gnomAD v4 |
19 | g.49061693C>G | CA406806576 | NTF4 | c.305G>C (p.Gly102Ala) c.243+62G>C (n.243+62G>C) c.335G>C (p.Gly112Ala) n.350G>C | |
19 | g.49061693C>T | CA406806577 | NTF4 | c.305G>A (p.Gly102Asp) c.243+62G>A (n.243+62G>A) c.335G>A (p.Gly112Asp) n.350G>A | gnomAD v4 |
19 | g.49061694C>A | CA406806579 | NTF4 | c.304G>T (p.Gly102Cys) c.243+61G>T (n.243+61G>T) c.334G>T (p.Gly112Cys) n.349G>T | |
19 | g.49061694C>G | CA406806580 | NTF4 | c.304G>C (p.Gly102Arg) c.243+61G>C (n.243+61G>C) c.334G>C (p.Gly112Arg) n.349G>C | |
19 | g.49061694C>T | CA406806578 | NTF4 | c.304G>A (p.Gly102Ser) c.243+61G>A (n.243+61G>A) c.334G>A (p.Gly112Ser) n.349G>A | |
19 | g.49061695A>C | CA406806581 | NTF4 | c.303T>G (p.Ser101Arg) c.243+60T>G (n.243+60T>G) c.333T>G (p.Ser111Arg) n.348T>G | |
19 | g.49061695A>G | CA508279050 | NTF4 | c.303T>C (p.Ser101=) c.243+60T>C (n.243+60T>C) c.333T>C (p.Ser111=) n.348T>C | |
19 | g.49061695A>T | CA406806582 | NTF4 | c.303T>A (p.Ser101Arg) c.243+60T>A (n.243+60T>A) c.333T>A (p.Ser111Arg) n.348T>A | |
19 | g.49061696C>A | CA406806583 | NTF4 | c.302G>T (p.Ser101Ile) c.243+59G>T (n.243+59G>T) c.332G>T (p.Ser111Ile) n.347G>T | |
19 | g.49061696C>G | CA406806584 | NTF4 | c.302G>C (p.Ser101Thr) c.243+59G>C (n.243+59G>C) c.332G>C (p.Ser111Thr) n.347G>C | |
19 | g.49061696C>T | CA406806585 | NTF4 | c.302G>A (p.Ser101Asn) c.243+59G>A (n.243+59G>A) c.332G>A (p.Ser111Asn) n.347G>A | |
19 | g.49061697T>A | CA406806588 | NTF4 | c.301A>T (p.Ser101Cys) c.243+58A>T (n.243+58A>T) c.331A>T (p.Ser111Cys) n.346A>T | |
19 | g.49061697T>C | CA406806586 | NTF4 | c.301A>G (p.Ser101Gly) c.243+58A>G (n.243+58A>G) c.331A>G (p.Ser111Gly) n.346A>G | |
19 | g.49061697T>G | CA406806587 | NTF4 | c.301A>C (p.Ser101Arg) c.243+58A>C (n.243+58A>C) c.331A>C (p.Ser111Arg) n.346A>C | |
19 | g.49061698G>A | CA508279052 | NTF4 | c.300C>T (p.Val100=) c.243+57C>T (n.243+57C>T) c.330C>T (p.Val110=) n.345C>T | dbSNP |
19 | g.49061698G>C | CA508279053 | NTF4 | c.300C>G (p.Val100=) c.243+57C>G (n.243+57C>G) c.330C>G (p.Val110=) n.345C>G | |
19 | g.49061698G>T | CA508279055 | NTF4 | c.300C>A (p.Val100=) c.243+57C>A (n.243+57C>A) c.330C>A (p.Val110=) n.345C>A | |
19 | g.49061699A>C | CA406806589 | NTF4 | c.299T>G (p.Val100Gly) c.243+56T>G (n.243+56T>G) c.329T>G (p.Val110Gly) n.344T>G | |
19 | g.49061699A>G | CA406806590 | NTF4 | c.299T>C (p.Val100Ala) c.243+56T>C (n.243+56T>C) c.329T>C (p.Val110Ala) n.344T>C | |
19 | g.49061699A>T | CA406806591 | NTF4 | c.299T>A (p.Val100Asp) c.243+56T>A (n.243+56T>A) c.329T>A (p.Val110Asp) n.344T>A | |
19 | g.49061700C>A | CA406806592 | NTF4 | c.298G>T (p.Val100Phe) c.243+55G>T (n.243+55G>T) c.328G>T (p.Val110Phe) n.343G>T | |
19 | g.49061700C>G | CA406806593 | NTF4 | c.298G>C (p.Val100Leu) c.243+55G>C (n.243+55G>C) c.328G>C (p.Val110Leu) n.343G>C | |
19 | g.49061700C>T | CA406806594 | NTF4 | c.298G>A (p.Val100Ile) c.243+55G>A (n.243+55G>A) c.328G>A (p.Val110Ile) n.343G>A | |
19 | g.49061701T>A | CA508279059 | NTF4 | c.297A>T (p.Ala99=) c.243+54A>T (n.243+54A>T) c.327A>T (p.Ala109=) n.342A>T | |
19 | g.49061701T>C | CA508279060 | NTF4 | c.297A>G (p.Ala99=) c.243+54A>G (n.243+54A>G) c.327A>G (p.Ala109=) n.342A>G | |
19 | g.49061701T>G | CA309446826 | NTF4 | c.297A>C (p.Ala99=) c.243+54A>C (n.243+54A>C) c.327A>C (p.Ala109=) n.342A>C | dbSNP gnomAD v4 |
19 | g.49061701T= | CA2340217393 | NTF4 | c.297A= (p.Ala99=) c.243+54A= (n.243+54A=) c.327A= (p.Ala109=) n.342A= | |
19 | g.49061702G>A | CA406806596 | NTF4 | c.296C>T (p.Ala99Val) c.243+53C>T (n.243+53C>T) c.326C>T (p.Ala109Val) n.341C>T | dbSNP gnomAD v4 |
19 | g.49061702G>C | CA406806597 | NTF4 | c.296C>G (p.Ala99Gly) c.243+53C>G (n.243+53C>G) c.326C>G (p.Ala109Gly) n.341C>G | |
19 | g.49061702G= | CA2340217394 | NTF4 | c.296C= (p.Ala99=) c.243+53C= (n.243+53C=) c.326C= (p.Ala109=) n.341C= | |
19 | g.49061702G>T | CA406806595 | NTF4 | c.296C>A (p.Ala99Glu) c.243+53C>A (n.243+53C>A) c.326C>A (p.Ala109Glu) n.341C>A | |
19 | g.49061703C>A | CA406806598 | NTF4 | c.295G>T (p.Ala99Ser) c.243+52G>T (n.243+52G>T) c.325G>T (p.Ala109Ser) n.340G>T | |
19 | g.49061703C>G | CA406806599 | NTF4 | c.295G>C (p.Ala99Pro) c.243+52G>C (n.243+52G>C) c.325G>C (p.Ala109Pro) n.340G>C | |
19 | g.49061703C>T | CA406806600 | NTF4 | c.295G>A (p.Ala99Thr) c.243+52G>A (n.243+52G>A) c.325G>A (p.Ala109Thr) n.340G>A | COSMIC |
19 | g.49061704A= | CA2340217395 | NTF4 | c.294T= (p.Asp98=) c.243+51T= (n.243+51T=) c.324T= (p.Asp108=) n.339T= | |
19 | g.49061704A>C | CA406806601 | NTF4 | c.294T>G (p.Asp98Glu) c.243+51T>G (n.243+51T>G) c.324T>G (p.Asp108Glu) n.339T>G | |
19 | g.49061704A>G | CA9565677 | NTF4 | c.294T>C (p.Asp98=) c.243+51T>C (n.243+51T>C) c.324T>C (p.Asp108=) n.339T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061704A>T | CA406806602 | NTF4 | c.294T>A (p.Asp98Glu) c.243+51T>A (n.243+51T>A) c.324T>A (p.Asp108Glu) n.339T>A | |
19 | g.49061705T>A | CA406806605 | NTF4 | c.293A>T (p.Asp98Val) c.243+50A>T (n.243+50A>T) c.323A>T (p.Asp108Val) n.338A>T | |
19 | g.49061705T>C | CA406806603 | NTF4 | c.293A>G (p.Asp98Gly) c.243+50A>G (n.243+50A>G) c.323A>G (p.Asp108Gly) n.338A>G | gnomAD v4 |
19 | g.49061705T>G | CA406806604 | NTF4 | c.293A>C (p.Asp98Ala) c.243+50A>C (n.243+50A>C) c.323A>C (p.Asp108Ala) n.338A>C | |
19 | g.49061706C>A | CA406806606 | NTF4 | c.292G>T (p.Asp98Tyr) c.243+49G>T (n.243+49G>T) c.322G>T (p.Asp108Tyr) n.337G>T | gnomAD v4 |
19 | g.49061706C= | CA2340217396 | NTF4 | c.292G= (p.Asp98=) c.243+49G= (n.243+49G=) c.322G= (p.Asp108=) n.337G= | |
19 | g.49061706C>G | CA406806607 | NTF4 | c.292G>C (p.Asp98His) c.243+49G>C (n.243+49G>C) c.322G>C (p.Asp108His) n.337G>C | |
19 | g.49061706C>T | CA406806608 | NTF4 | c.292G>A (p.Asp98Asn) c.243+49G>A (n.243+49G>A) c.322G>A (p.Asp108Asn) n.337G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061707G>A | CA9565678 | NTF4 | c.291C>T (p.Cys97=) c.243+48C>T (n.243+48C>T) c.321C>T (p.Cys107=) n.336C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061707G>C | CA406806611 | NTF4 | c.291C>G (p.Cys97Trp) c.243+48C>G (n.243+48C>G) c.321C>G (p.Cys107Trp) n.336C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061707G= | CA2340217397 | NTF4 | c.291C= (p.Cys97=) c.243+48C= (n.243+48C=) c.321C= (p.Cys107=) n.336C= | |
19 | g.49061707G>T | CA406806613 | NTF4 | c.291C>A (p.Cys97Ter) c.243+48C>A (n.243+48C>A) c.321C>A (p.Cys107Ter) n.336C>A | |
19 | g.49061708C>A | CA406806614 | NTF4 | c.290G>T (p.Cys97Phe) c.243+47G>T (n.243+47G>T) c.320G>T (p.Cys107Phe) n.335G>T | |
19 | g.49061708C>G | CA406806618 | NTF4 | c.290G>C (p.Cys97Ser) c.243+47G>C (n.243+47G>C) c.320G>C (p.Cys107Ser) n.335G>C | |
19 | g.49061708C>T | CA406806616 | NTF4 | c.290G>A (p.Cys97Tyr) c.243+47G>A (n.243+47G>A) c.320G>A (p.Cys107Tyr) n.335G>A |