Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49061481T>A | CA9565614 | NTF4 | c.517A>T (p.Lys173Ter) c.243+274A>T (n.243+274A>T) c.547A>T (p.Lys183Ter) n.562A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061481T>C | CA406805214 | NTF4 | c.517A>G (p.Lys173Glu) c.243+274A>G (n.243+274A>G) c.547A>G (p.Lys183Glu) n.562A>G | |
19 | g.49061481T>G | CA406805217 | NTF4 | c.517A>C (p.Lys173Gln) c.243+274A>C (n.243+274A>C) c.547A>C (p.Lys183Gln) n.562A>C | |
19 | g.49061481T= | CA2340217289 | NTF4 | c.517A= (p.Lys173=) c.243+274A= (n.243+274A=) c.547A= (p.Lys183=) n.562A= | |
19 | g.49061481_49061482delinsTG | CA2340217290 | NTF4 | c.516_517delinsCA (p.Ala172=) c.243+273_243+274delinsCA (n.243+273_243+274delinsCA) c.546_547delinsCA (p.Ala182=) n.561_562delinsCA | |
19 | g.49061482G>A | CA9565615 | NTF4 | c.516C>T (p.Ala172=) c.243+273C>T (n.243+273C>T) c.546C>T (p.Ala182=) n.561C>T | dbSNP ExAC gnomAD v2 |
19 | g.49061482G>C | CA508278880 | NTF4 | c.516C>G (p.Ala172=) c.243+273C>G (n.243+273C>G) c.546C>G (p.Ala182=) n.561C>G | |
19 | g.49061482G= | CA2340217291 | NTF4 | c.516C= (p.Ala172=) c.243+273C= (n.243+273C=) c.546C= (p.Ala182=) n.561C= | |
19 | g.49061482G>T | CA508278879 | NTF4 | c.516C>A (p.Ala172=) c.243+273C>A (n.243+273C>A) c.546C>A (p.Ala182=) n.561C>A | |
19 | g.49061483del | CA883074943 | NTF4 | c.516del (p.Lys173SerfsTer8) c.243+273del (n.243+273del) c.546del (p.Lys183SerfsTer8) n.561del | dbSNP |
19 | g.49061483G>A | CA406805224 | NTF4 | c.515C>T (p.Ala172Val) c.243+272C>T (n.243+272C>T) c.545C>T (p.Ala182Val) n.560C>T | |
19 | g.49061483G>C | CA406805227 | NTF4 | c.515C>G (p.Ala172Gly) c.243+272C>G (n.243+272C>G) c.545C>G (p.Ala182Gly) n.560C>G | |
19 | g.49061483G= | CA2340217292 | NTF4 | c.515C= (p.Ala172=) c.243+272C= (n.243+272C=) c.545C= (p.Ala182=) n.560C= | |
19 | g.49061483G>T | CA406805230 | NTF4 | c.515C>A (p.Ala172Asp) c.243+272C>A (n.243+272C>A) c.545C>A (p.Ala182Asp) n.560C>A | dbSNP gnomAD v4 |
19 | g.49061484C>A | CA406805237 | NTF4 | c.514G>T (p.Ala172Ser) c.243+271G>T (n.243+271G>T) c.544G>T (p.Ala182Ser) n.559G>T | |
19 | g.49061484C= | CA2340217293 | NTF4 | c.514G= (p.Ala172=) c.243+271G= (n.243+271G=) c.544G= (p.Ala182=) n.559G= | |
19 | g.49061484C>G | CA406805242 | NTF4 | c.514G>C (p.Ala172Pro) c.243+271G>C (n.243+271G>C) c.544G>C (p.Ala182Pro) n.559G>C | |
19 | g.49061484C>T | CA9565616 | NTF4 | c.514G>A (p.Ala172Thr) c.243+271G>A (n.243+271G>A) c.544G>A (p.Ala182Thr) n.559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061485C>A | CA406805250 | NTF4 | c.513G>T (p.Lys171Asn) c.243+270G>T (n.243+270G>T) c.543G>T (p.Lys181Asn) n.558G>T | |
19 | g.49061485C>G | CA406805252 | NTF4 | c.513G>C (p.Lys171Asn) c.243+270G>C (n.243+270G>C) c.543G>C (p.Lys181Asn) n.558G>C | |
19 | g.49061485C>T | CA508278882 | NTF4 | c.513G>A (p.Lys171=) c.243+270G>A (n.243+270G>A) c.543G>A (p.Lys181=) n.558G>A | |
19 | g.49061486T>A | CA406805256 | NTF4 | c.512A>T (p.Lys171Met) c.243+269A>T (n.243+269A>T) c.542A>T (p.Lys181Met) n.557A>T | |
19 | g.49061486T>C | CA9565617 | NTF4 | c.512A>G (p.Lys171Arg) c.243+269A>G (n.243+269A>G) c.542A>G (p.Lys181Arg) n.557A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061486T>G | CA406805260 | NTF4 | c.512A>C (p.Lys171Thr) c.243+269A>C (n.243+269A>C) c.542A>C (p.Lys181Thr) n.557A>C | |
19 | g.49061486T= | CA2340217294 | NTF4 | c.512A= (p.Lys171=) c.243+269A= (n.243+269A=) c.542A= (p.Lys181=) n.557A= | |
19 | g.49061487T>A | CA406805266 | NTF4 | c.511A>T (p.Lys171Ter) c.243+268A>T (n.243+268A>T) c.541A>T (p.Lys181Ter) n.556A>T | |
19 | g.49061487T>C | CA406805268 | NTF4 | c.511A>G (p.Lys171Glu) c.243+268A>G (n.243+268A>G) c.541A>G (p.Lys181Glu) n.556A>G | |
19 | g.49061487T>G | CA406805273 | NTF4 | c.511A>C (p.Lys171Gln) c.243+268A>C (n.243+268A>C) c.541A>C (p.Lys181Gln) n.556A>C | |
19 | g.49061488G>A | CA508278884 | NTF4 | c.510C>T (p.Cys170=) c.243+267C>T (n.243+267C>T) c.540C>T (p.Cys180=) n.555C>T | |
19 | g.49061488G>C | CA406805275 | NTF4 | c.510C>G (p.Cys170Trp) c.243+267C>G (n.243+267C>G) c.540C>G (p.Cys180Trp) n.555C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061488G= | CA2340217295 | NTF4 | c.510C= (p.Cys170=) c.243+267C= (n.243+267C=) c.540C= (p.Cys180=) n.555C= | |
19 | g.49061488G>T | CA406805279 | NTF4 | c.510C>A (p.Cys170Ter) c.243+267C>A (n.243+267C>A) c.540C>A (p.Cys180Ter) n.555C>A | |
19 | g.49061489C>A | CA406805287 | NTF4 | c.509G>T (p.Cys170Phe) c.243+266G>T (n.243+266G>T) c.539G>T (p.Cys180Phe) n.554G>T | |
19 | g.49061489C= | CA2340217296 | NTF4 | c.509G= (p.Cys170=) c.243+266G= (n.243+266G=) c.539G= (p.Cys180=) n.554G= | |
19 | g.49061489C>G | CA406805289 | NTF4 | c.509G>C (p.Cys170Ser) c.243+266G>C (n.243+266G>C) c.539G>C (p.Cys180Ser) n.554G>C | |
19 | g.49061489C>T | CA406805293 | NTF4 | c.509G>A (p.Cys170Tyr) c.243+266G>A (n.243+266G>A) c.539G>A (p.Cys180Tyr) n.554G>A | dbSNP gnomAD v4 |
19 | g.49061490A= | CA2340217297 | NTF4 | c.508T= (p.Cys170=) c.243+265T= (n.243+265T=) c.538T= (p.Cys180=) n.553T= | |
19 | g.49061490A>C | CA406805303 | NTF4 | c.508T>G (p.Cys170Gly) c.243+265T>G (n.243+265T>G) c.538T>G (p.Cys180Gly) n.553T>G | |
19 | g.49061490A>G | CA406805299 | NTF4 | c.508T>C (p.Cys170Arg) c.243+265T>C (n.243+265T>C) c.538T>C (p.Cys180Arg) n.553T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061490A>T | CA406805297 | NTF4 | c.508T>A (p.Cys170Ser) c.243+265T>A (n.243+265T>A) c.538T>A (p.Cys180Ser) n.553T>A | |
19 | g.49061491C>A | CA406805306 | NTF4 | c.507G>T (p.Glu169Asp) c.243+264G>T (n.243+264G>T) c.537G>T (p.Glu179Asp) n.552G>T | |
19 | g.49061491C= | CA2340217298 | NTF4 | c.507G= (p.Glu169=) c.243+264G= (n.243+264G=) c.537G= (p.Glu179=) n.552G= | |
19 | g.49061491C>G | CA406805309 | NTF4 | c.507G>C (p.Glu169Asp) c.243+264G>C (n.243+264G>C) c.537G>C (p.Glu179Asp) n.552G>C | |
19 | g.49061491C>T | CA508278886 | NTF4 | c.507G>A (p.Glu169=) c.243+264G>A (n.243+264G>A) c.537G>A (p.Glu179=) n.552G>A | dbSNP gnomAD v4 |
19 | g.49061492T>A | CA406805313 | NTF4 | c.506A>T (p.Glu169Val) c.243+263A>T (n.243+263A>T) c.536A>T (p.Glu179Val) n.551A>T | |
19 | g.49061492T>C | CA406805316 | NTF4 | c.506A>G (p.Glu169Gly) c.243+263A>G (n.243+263A>G) c.536A>G (p.Glu179Gly) n.551A>G | |
19 | g.49061492T>G | CA406805318 | NTF4 | c.506A>C (p.Glu169Ala) c.243+263A>C (n.243+263A>C) c.536A>C (p.Glu179Ala) n.551A>C | |
19 | g.49061493C>A | CA406805320 | NTF4 | c.505G>T (p.Glu169Ter) c.243+262G>T (n.243+262G>T) c.535G>T (p.Glu179Ter) n.550G>T | |
19 | g.49061493C= | CA2340217299 | NTF4 | c.505G= (p.Glu169=) c.243+262G= (n.243+262G=) c.535G= (p.Glu179=) n.550G= | |
19 | g.49061493C>G | CA406805322 | NTF4 | c.505G>C (p.Glu169Gln) c.243+262G>C (n.243+262G>C) c.535G>C (p.Glu179Gln) n.550G>C | |
19 | g.49061493C>T | CA309446571 | NTF4 | c.505G>A (p.Glu169Lys) c.243+262G>A (n.243+262G>A) c.535G>A (p.Glu179Lys) n.550G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061494A= | CA2340217300 | NTF4 | c.504T= (p.Ser168=) c.243+261T= (n.243+261T=) c.534T= (p.Ser178=) n.549T= | |
19 | g.49061494A>C | CA508278890 | NTF4 | c.504T>G (p.Ser168=) c.243+261T>G (n.243+261T>G) c.534T>G (p.Ser178=) n.549T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061494A>G | CA508278891 | NTF4 | c.504T>C (p.Ser168=) c.243+261T>C (n.243+261T>C) c.534T>C (p.Ser178=) n.549T>C | |
19 | g.49061494A>T | CA508278892 | NTF4 | c.504T>A (p.Ser168=) c.243+261T>A (n.243+261T>A) c.534T>A (p.Ser178=) n.549T>A | |
19 | g.49061495_49061498dup | CA9565618 | NTF4 | c.501_504dup (p.Glu169IlefsTer2) c.243+258_243+261dup (n.243+258_243+261dup) c.531_534dup (p.Glu179IlefsTer2) n.546_549dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061495G>A | CA406805338 | NTF4 | c.503C>T (p.Ser168Phe) c.243+260C>T (n.243+260C>T) c.533C>T (p.Ser178Phe) n.548C>T | |
19 | g.49061495G>C | CA406805350 | NTF4 | c.503C>G (p.Ser168Cys) c.243+260C>G (n.243+260C>G) c.533C>G (p.Ser178Cys) n.548C>G | |
19 | g.49061495G>T | CA406805352 | NTF4 | c.503C>A (p.Ser168Tyr) c.243+260C>A (n.243+260C>A) c.533C>A (p.Ser178Tyr) n.548C>A | |
19 | g.49061496A>C | CA406805360 | NTF4 | c.502T>G (p.Ser168Ala) c.243+259T>G (n.243+259T>G) c.532T>G (p.Ser178Ala) n.547T>G | |
19 | g.49061496A>G | CA406805359 | NTF4 | c.502T>C (p.Ser168Pro) c.243+259T>C (n.243+259T>C) c.532T>C (p.Ser178Pro) n.547T>C | |
19 | g.49061496A>T | CA406805357 | NTF4 | c.502T>A (p.Ser168Thr) c.243+259T>A (n.243+259T>A) c.532T>A (p.Ser178Thr) n.547T>A | |
19 | g.49061497T>A | CA508278896 | NTF4 | c.501A>T (p.Val167=) c.243+258A>T (n.243+258A>T) c.531A>T (p.Val177=) n.546A>T | COSMIC |
19 | g.49061497T>C | CA508278897 | NTF4 | c.501A>G (p.Val167=) c.243+258A>G (n.243+258A>G) c.531A>G (p.Val177=) n.546A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061497T>G | CA508278899 | NTF4 | c.501A>C (p.Val167=) c.243+258A>C (n.243+258A>C) c.531A>C (p.Val177=) n.546A>C | |
19 | g.49061497T= | CA2340217301 | NTF4 | c.501A= (p.Val167=) c.243+258A= (n.243+258A=) c.531A= (p.Val177=) n.546A= | |
19 | g.49061498A= | CA2340217302 | NTF4 | c.500T= (p.Val167=) c.243+257T= (n.243+257T=) c.530T= (p.Val177=) n.545T= | |
19 | g.49061498A>C | CA406805363 | NTF4 | c.500T>G (p.Val167Gly) c.243+257T>G (n.243+257T>G) c.530T>G (p.Val177Gly) n.545T>G | dbSNP |
19 | g.49061498A>G | CA406805364 | NTF4 | c.500T>C (p.Val167Ala) c.243+257T>C (n.243+257T>C) c.530T>C (p.Val177Ala) n.545T>C | |
19 | g.49061498A>T | CA406805366 | NTF4 | c.500T>A (p.Val167Glu) c.243+257T>A (n.243+257T>A) c.530T>A (p.Val177Glu) n.545T>A | |
19 | g.49061499C>A | CA406805367 | NTF4 | c.499G>T (p.Val167Leu) c.243+256G>T (n.243+256G>T) c.529G>T (p.Val177Leu) n.544G>T | |
19 | g.49061499C= | CA2340217303 | NTF4 | c.499G= (p.Val167=) c.243+256G= (n.243+256G=) c.529G= (p.Val177=) n.544G= | |
19 | g.49061499C>G | CA309446582 | NTF4 | c.499G>C (p.Val167Leu) c.243+256G>C (n.243+256G>C) c.529G>C (p.Val177Leu) n.544G>C | dbSNP |
19 | g.49061499C>T | CA406805378 | NTF4 | c.499G>A (p.Val167Ile) c.243+256G>A (n.243+256G>A) c.529G>A (p.Val177Ile) n.544G>A | |
19 | g.49061500C>A | CA406805381 | NTF4 | c.498G>T (p.Trp166Cys) c.243+255G>T (n.243+255G>T) c.528G>T (p.Trp176Cys) n.543G>T | |
19 | g.49061500C= | CA2340217304 | NTF4 | c.498G= (p.Trp166=) c.243+255G= (n.243+255G=) c.528G= (p.Trp176=) n.543G= | |
19 | g.49061500C>G | CA406805384 | NTF4 | c.498G>C (p.Trp166Cys) c.243+255G>C (n.243+255G>C) c.528G>C (p.Trp176Cys) n.543G>C | |
19 | g.49061500C>T | CA309446586 | NTF4 | c.498G>A (p.Trp166Ter) c.243+255G>A (n.243+255G>A) c.528G>A (p.Trp176Ter) n.543G>A | dbSNP gnomAD v2 |
19 | g.49061501C>A | CA406805388 | NTF4 | c.497G>T (p.Trp166Leu) c.243+254G>T (n.243+254G>T) c.527G>T (p.Trp176Leu) n.542G>T | |
19 | g.49061501C>G | CA406805391 | NTF4 | c.497G>C (p.Trp166Ser) c.243+254G>C (n.243+254G>C) c.527G>C (p.Trp176Ser) n.542G>C | |
19 | g.49061501C>T | CA406805393 | NTF4 | c.497G>A (p.Trp166Ter) c.243+254G>A (n.243+254G>A) c.527G>A (p.Trp176Ter) n.542G>A | |
19 | g.49061502A>C | CA406805402 | NTF4 | c.496T>G (p.Trp166Gly) c.243+253T>G (n.243+253T>G) c.526T>G (p.Trp176Gly) n.541T>G | |
19 | g.49061502A>G | CA406805400 | NTF4 | c.496T>C (p.Trp166Arg) c.243+253T>C (n.243+253T>C) c.526T>C (p.Trp176Arg) n.541T>C | |
19 | g.49061502A>T | CA406805396 | NTF4 | c.496T>A (p.Trp166Arg) c.243+253T>A (n.243+253T>A) c.526T>A (p.Trp176Arg) n.541T>A | |
19 | g.49061503G>A | CA508278907 | NTF4 | c.495C>T (p.His165=) c.243+252C>T (n.243+252C>T) c.525C>T (p.His175=) n.540C>T | |
19 | g.49061503G>C | CA406805404 | NTF4 | c.495C>G (p.His165Gln) c.243+252C>G (n.243+252C>G) c.525C>G (p.His175Gln) n.540C>G | |
19 | g.49061503G= | CA2340217305 | NTF4 | c.495C= (p.His165=) c.243+252C= (n.243+252C=) c.525C= (p.His175=) n.540C= | |
19 | g.49061503G>T | CA9565619 | NTF4 | c.495C>A (p.His165Gln) c.243+252C>A (n.243+252C>A) c.525C>A (p.His175Gln) n.540C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061504T>A | CA406805408 | NTF4 | c.494A>T (p.His165Leu) c.243+251A>T (n.243+251A>T) c.524A>T (p.His175Leu) n.539A>T | |
19 | g.49061504T>C | CA406805414 | NTF4 | c.494A>G (p.His165Arg) c.243+251A>G (n.243+251A>G) c.524A>G (p.His175Arg) n.539A>G | gnomAD v4 |
19 | g.49061504T>G | CA406805416 | NTF4 | c.494A>C (p.His165Pro) c.243+251A>C (n.243+251A>C) c.524A>C (p.His175Pro) n.539A>C | |
19 | g.49061505G>A | CA406805417 | NTF4 | c.493C>T (p.His165Tyr) c.243+250C>T (n.243+250C>T) c.523C>T (p.His175Tyr) n.538C>T | |
19 | g.49061505G>C | CA406805420 | NTF4 | c.493C>G (p.His165Asp) c.243+250C>G (n.243+250C>G) c.523C>G (p.His175Asp) n.538C>G | |
19 | g.49061505G= | CA2340217306 | NTF4 | c.493C= (p.His165=) c.243+250C= (n.243+250C=) c.523C= (p.His175=) n.538C= | |
19 | g.49061505G>T | CA9565620 | NTF4 | c.493C>A (p.His165Asn) c.243+250C>A (n.243+250C>A) c.523C>A (p.His175Asn) n.538C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061506C>A | CA406805422 | NTF4 | c.492G>T (p.Arg164Ser) c.243+249G>T (n.243+249G>T) c.522G>T (p.Arg174Ser) n.537G>T | |
19 | g.49061506C>G | CA406805424 | NTF4 | c.492G>C (p.Arg164Ser) c.243+249G>C (n.243+249G>C) c.522G>C (p.Arg174Ser) n.537G>C | |
19 | g.49061506C>T | CA508278912 | NTF4 | c.492G>A (p.Arg164=) c.243+249G>A (n.243+249G>A) c.522G>A (p.Arg174=) n.537G>A | |
19 | g.49061507C>A | CA406805425 | NTF4 | c.491G>T (p.Arg164Met) c.243+248G>T (n.243+248G>T) c.521G>T (p.Arg174Met) n.536G>T | |
19 | g.49061507C>G | CA406805427 | NTF4 | c.491G>C (p.Arg164Thr) c.243+248G>C (n.243+248G>C) c.521G>C (p.Arg174Thr) n.536G>C | |
19 | g.49061507C>T | CA406805429 | NTF4 | c.491G>A (p.Arg164Lys) c.243+248G>A (n.243+248G>A) c.521G>A (p.Arg174Lys) n.536G>A | |
19 | g.49061508T>A | CA406805430 | NTF4 | c.490A>T (p.Arg164Trp) c.243+247A>T (n.243+247A>T) c.520A>T (p.Arg174Trp) n.535A>T | |
19 | g.49061508T>C | CA406805431 | NTF4 | c.490A>G (p.Arg164Gly) c.243+247A>G (n.243+247A>G) c.520A>G (p.Arg174Gly) n.535A>G | |
19 | g.49061508T>G | CA508278913 | NTF4 | c.490A>C (p.Arg164=) c.243+247A>C (n.243+247A>C) c.520A>C (p.Arg174=) n.535A>C | |
19 | g.49061509C>A | CA406805432 | NTF4 | c.489G>T (p.Arg163Ser) c.243+246G>T (n.243+246G>T) c.519G>T (p.Arg173Ser) n.534G>T | |
19 | g.49061509C= | CA2340217307 | NTF4 | c.489G= (p.Arg163=) c.243+246G= (n.243+246G=) c.519G= (p.Arg173=) n.534G= | |
19 | g.49061509C>G | CA9565621 | NTF4 | c.489G>C (p.Arg163Ser) c.243+246G>C (n.243+246G>C) c.519G>C (p.Arg173Ser) n.534G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061509C>T | CA508278915 | NTF4 | c.489G>A (p.Arg163=) c.243+246G>A (n.243+246G>A) c.519G>A (p.Arg173=) n.534G>A | |
19 | g.49061510C>A | CA406805434 | NTF4 | c.488G>T (p.Arg163Met) c.243+245G>T (n.243+245G>T) c.518G>T (p.Arg173Met) n.533G>T | |
19 | g.49061510C>G | CA406805438 | NTF4 | c.488G>C (p.Arg163Thr) c.243+245G>C (n.243+245G>C) c.518G>C (p.Arg173Thr) n.533G>C | |
19 | g.49061510C>T | CA406805436 | NTF4 | c.488G>A (p.Arg163Lys) c.243+245G>A (n.243+245G>A) c.518G>A (p.Arg173Lys) n.533G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061511T>A | CA406805440 | NTF4 | c.487A>T (p.Arg163Trp) c.243+244A>T (n.243+244A>T) c.517A>T (p.Arg173Trp) n.532A>T | |
19 | g.49061511T>C | CA406805442 | NTF4 | c.487A>G (p.Arg163Gly) c.243+244A>G (n.243+244A>G) c.517A>G (p.Arg173Gly) n.532A>G | |
19 | g.49061511T>G | CA508278916 | NTF4 | c.487A>C (p.Arg163=) c.243+244A>C (n.243+244A>C) c.517A>C (p.Arg173=) n.532A>C | |
19 | g.49061512G>A | CA508278917 | NTF4 | c.486C>T (p.Asp162=) c.243+243C>T (n.243+243C>T) c.516C>T (p.Asp172=) n.531C>T | |
19 | g.49061512G>C | CA406805444 | NTF4 | c.486C>G (p.Asp162Glu) c.243+243C>G (n.243+243C>G) c.516C>G (p.Asp172Glu) n.531C>G | |
19 | g.49061512G>T | CA406805446 | NTF4 | c.486C>A (p.Asp162Glu) c.243+243C>A (n.243+243C>A) c.516C>A (p.Asp172Glu) n.531C>A | |
19 | g.49061513T>A | CA406805448 | NTF4 | c.485A>T (p.Asp162Val) c.243+242A>T (n.243+242A>T) c.515A>T (p.Asp172Val) n.530A>T | |
19 | g.49061513T>C | CA406805449 | NTF4 | c.485A>G (p.Asp162Gly) c.243+242A>G (n.243+242A>G) c.515A>G (p.Asp172Gly) n.530A>G | |
19 | g.49061513T>G | CA406805451 | NTF4 | c.485A>C (p.Asp162Ala) c.243+242A>C (n.243+242A>C) c.515A>C (p.Asp172Ala) n.530A>C | |
19 | g.49061514C>A | CA9565622 | NTF4 | c.484G>T (p.Asp162Tyr) c.243+241G>T (n.243+241G>T) c.514G>T (p.Asp172Tyr) n.529G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061514C= | CA2340217308 | NTF4 | c.484G= (p.Asp162=) c.243+241G= (n.243+241G=) c.514G= (p.Asp172=) n.529G= | |
19 | g.49061514C>G | CA406805454 | NTF4 | c.484G>C (p.Asp162His) c.243+241G>C (n.243+241G>C) c.514G>C (p.Asp172His) n.529G>C | dbSNP gnomAD v2 |
19 | g.49061514C>T | CA406805457 | NTF4 | c.484G>A (p.Asp162Asn) c.243+241G>A (n.243+241G>A) c.514G>A (p.Asp172Asn) n.529G>A | gnomAD v4 |
19 | g.49061515C>A | CA508278919 | NTF4 | c.483G>T (p.Val161=) c.243+240G>T (n.243+240G>T) c.513G>T (p.Val171=) n.528G>T | |
19 | g.49061515C= | CA2340217309 | NTF4 | c.483G= (p.Val161=) c.243+240G= (n.243+240G=) c.513G= (p.Val171=) n.528G= | |
19 | g.49061515C>G | CA508278921 | NTF4 | c.483G>C (p.Val161=) c.243+240G>C (n.243+240G>C) c.513G>C (p.Val171=) n.528G>C | |
19 | g.49061515C>T | CA309446608 | NTF4 | c.483G>A (p.Val161=) c.243+240G>A (n.243+240G>A) c.513G>A (p.Val171=) n.528G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061516A>C | CA406805459 | NTF4 | c.482T>G (p.Val161Gly) c.243+239T>G (n.243+239T>G) c.512T>G (p.Val171Gly) n.527T>G | |
19 | g.49061516A>G | CA406805462 | NTF4 | c.482T>C (p.Val161Ala) c.243+239T>C (n.243+239T>C) c.512T>C (p.Val171Ala) n.527T>C | |
19 | g.49061516A>T | CA406805463 | NTF4 | c.482T>A (p.Val161Glu) c.243+239T>A (n.243+239T>A) c.512T>A (p.Val171Glu) n.527T>A | |
19 | g.49061517C>A | CA406805465 | NTF4 | c.481G>T (p.Val161Leu) c.243+238G>T (n.243+238G>T) c.511G>T (p.Val171Leu) n.526G>T | |
19 | g.49061517C= | CA2340217310 | NTF4 | c.481G= (p.Val161=) c.243+238G= (n.243+238G=) c.511G= (p.Val171=) n.526G= | |
19 | g.49061517C>G | CA406805466 | NTF4 | c.481G>C (p.Val161Leu) c.243+238G>C (n.243+238G>C) c.511G>C (p.Val171Leu) n.526G>C | |
19 | g.49061517C>T | CA9565623 | NTF4 | c.481G>A (p.Val161Met) c.243+238G>A (n.243+238G>A) c.511G>A (p.Val171Met) n.526G>A | dbSNP ExAC gnomAD v2 |
19 | g.49061518T>A | CA508278924 | NTF4 | c.480A>T (p.Gly160=) c.243+237A>T (n.243+237A>T) c.510A>T (p.Gly170=) n.525A>T | |
19 | g.49061518T>C | CA508278926 | NTF4 | c.480A>G (p.Gly160=) c.243+237A>G (n.243+237A>G) c.510A>G (p.Gly170=) n.525A>G | |
19 | g.49061518T>G | CA508278928 | NTF4 | c.480A>C (p.Gly160=) c.243+237A>C (n.243+237A>C) c.510A>C (p.Gly170=) n.525A>C | |
19 | g.49061519C>A | CA406805467 | NTF4 | c.479G>T (p.Gly160Val) c.243+236G>T (n.243+236G>T) c.509G>T (p.Gly170Val) n.524G>T | gnomAD v4 |
19 | g.49061519C= | CA2340217311 | NTF4 | c.479G= (p.Gly160=) c.243+236G= (n.243+236G=) c.509G= (p.Gly170=) n.524G= | |
19 | g.49061519C>G | CA406805468 | NTF4 | c.479G>C (p.Gly160Ala) c.243+236G>C (n.243+236G>C) c.509G>C (p.Gly170Ala) n.524G>C | |
19 | g.49061519C>T | CA309446612 | NTF4 | c.479G>A (p.Gly160Glu) c.243+236G>A (n.243+236G>A) c.509G>A (p.Gly170Glu) n.524G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061522del | CA2586311531 | NTF4 | c.479del (p.Gly160GlufsTer21) c.243+236del (n.243+236del) c.509del (p.Gly170GlufsTer21) n.524del | gnomAD v4 |
19 | g.49061520C>A | CA406805469 | NTF4 | c.478G>T (p.Gly160Ter) c.243+235G>T (n.243+235G>T) c.508G>T (p.Gly170Ter) n.523G>T | |
19 | g.49061520C= | CA2340217312 | NTF4 | c.478G= (p.Gly160=) c.243+235G= (n.243+235G=) c.508G= (p.Gly170=) n.523G= | |
19 | g.49061520C>G | CA406805470 | NTF4 | c.478G>C (p.Gly160Arg) c.243+235G>C (n.243+235G>C) c.508G>C (p.Gly170Arg) n.523G>C | |
19 | g.49061520C>T | CA406805471 | NTF4 | c.478G>A (p.Gly160Arg) c.243+235G>A (n.243+235G>A) c.508G>A (p.Gly170Arg) n.523G>A | ClinVar dbSNP gnomAD v4 |
19 | g.49061521C>A | CA508278934 | NTF4 | c.477G>T (p.Arg159=) c.243+234G>T (n.243+234G>T) c.507G>T (p.Arg169=) n.522G>T | |
19 | g.49061521C>G | CA508278937 | NTF4 | c.477G>C (p.Arg159=) c.243+234G>C (n.243+234G>C) c.507G>C (p.Arg169=) n.522G>C | |
19 | g.49061521C>T | CA508278936 | NTF4 | c.477G>A (p.Arg159=) c.243+234G>A (n.243+234G>A) c.507G>A (p.Arg169=) n.522G>A | COSMIC |
19 | g.49061522C>A | CA406805474 | NTF4 | c.476G>T (p.Arg159Leu) c.243+233G>T (n.243+233G>T) c.506G>T (p.Arg169Leu) n.521G>T | |
19 | g.49061522C= | CA2340217313 | NTF4 | c.476G= (p.Arg159=) c.243+233G= (n.243+233G=) c.506G= (p.Arg169=) n.521G= | |
19 | g.49061522C>G | CA406805476 | NTF4 | c.476G>C (p.Arg159Pro) c.243+233G>C (n.243+233G>C) c.506G>C (p.Arg169Pro) n.521G>C | gnomAD v4 |
19 | g.49061522C>T | CA406805477 | NTF4 | c.476G>A (p.Arg159Gln) c.243+233G>A (n.243+233G>A) c.506G>A (p.Arg169Gln) n.521G>A | dbSNP gnomAD v4 |
19 | g.49061523G>A | CA9565624 | NTF4 | c.475C>T (p.Arg159Trp) c.243+232C>T (n.243+232C>T) c.505C>T (p.Arg169Trp) n.520C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061523G>C | CA406805480 | NTF4 | c.475C>G (p.Arg159Gly) c.243+232C>G (n.243+232C>G) c.505C>G (p.Arg169Gly) n.520C>G | |
19 | g.49061523G= | CA2340217314 | NTF4 | c.475C= (p.Arg159=) c.243+232C= (n.243+232C=) c.505C= (p.Arg169=) n.520C= | |
19 | g.49061523G>T | CA508278940 | NTF4 | c.475C>A (p.Arg159=) c.243+232C>A (n.243+232C>A) c.505C>A (p.Arg169=) n.520C>A | |
19 | g.49061524G>A | CA508278943 | NTF4 | c.474C>T (p.Cys158=) c.243+231C>T (n.243+231C>T) c.504C>T (p.Cys168=) n.519C>T | COSMIC |
19 | g.49061524G>C | CA406805482 | NTF4 | c.474C>G (p.Cys158Trp) c.243+231C>G (n.243+231C>G) c.504C>G (p.Cys168Trp) n.519C>G | |
19 | g.49061524G>T | CA406805483 | NTF4 | c.474C>A (p.Cys158Ter) c.243+231C>A (n.243+231C>A) c.504C>A (p.Cys168Ter) n.519C>A | |
19 | g.49061525C>A | CA406805486 | NTF4 | c.473G>T (p.Cys158Phe) c.243+230G>T (n.243+230G>T) c.503G>T (p.Cys168Phe) n.518G>T | |
19 | g.49061525C= | CA2340217315 | NTF4 | c.473G= (p.Cys158=) c.243+230G= (n.243+230G=) c.503G= (p.Cys168=) n.518G= | |
19 | g.49061525C>G | CA406805487 | NTF4 | c.473G>C (p.Cys158Ser) c.243+230G>C (n.243+230G>C) c.503G>C (p.Cys168Ser) n.518G>C | |
19 | g.49061525C>T | CA406805484 | NTF4 | c.473G>A (p.Cys158Tyr) c.243+230G>A (n.243+230G>A) c.503G>A (p.Cys168Tyr) n.518G>A | dbSNP |
19 | g.49061526A>C | CA406805489 | NTF4 | c.472T>G (p.Cys158Gly) c.243+229T>G (n.243+229T>G) c.502T>G (p.Cys168Gly) n.517T>G | |
19 | g.49061526A>G | CA406805493 | NTF4 | c.472T>C (p.Cys158Arg) c.243+229T>C (n.243+229T>C) c.502T>C (p.Cys168Arg) n.517T>C | |
19 | g.49061526A>T | CA406805496 | NTF4 | c.472T>A (p.Cys158Ser) c.243+229T>A (n.243+229T>A) c.502T>A (p.Cys168Ser) n.517T>A | |
19 | g.49061527G>A | CA9565625 | NTF4 | c.471C>T (p.Gly157=) c.243+228C>T (n.243+228C>T) c.501C>T (p.Gly167=) n.516C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061527G>C | CA508278949 | NTF4 | c.471C>G (p.Gly157=) c.243+228C>G (n.243+228C>G) c.501C>G (p.Gly167=) n.516C>G | |
19 | g.49061527G= | CA2340217316 | NTF4 | c.471C= (p.Gly157=) c.243+228C= (n.243+228C=) c.501C= (p.Gly167=) n.516C= | |
19 | g.49061527G>T | CA508278947 | NTF4 | c.471C>A (p.Gly157=) c.243+228C>A (n.243+228C>A) c.501C>A (p.Gly167=) n.516C>A | |
19 | g.49061528C>A | CA406805499 | NTF4 | c.470G>T (p.Gly157Val) c.243+227G>T (n.243+227G>T) c.500G>T (p.Gly167Val) n.515G>T | |
19 | g.49061528C= | CA2340217317 | NTF4 | c.470G= (p.Gly157=) c.243+227G= (n.243+227G=) c.500G= (p.Gly167=) n.515G= | |
19 | g.49061528C>G | CA406805502 | NTF4 | c.470G>C (p.Gly157Ala) c.243+227G>C (n.243+227G>C) c.500G>C (p.Gly167Ala) n.515G>C | |
19 | g.49061528C>T | CA406805506 | NTF4 | c.470G>A (p.Gly157Asp) c.243+227G>A (n.243+227G>A) c.500G>A (p.Gly167Asp) n.515G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061529C>A | CA406805511 | NTF4 | c.469G>T (p.Gly157Cys) c.243+226G>T (n.243+226G>T) c.499G>T (p.Gly167Cys) n.514G>T | |
19 | g.49061529C>G | CA406805513 | NTF4 | c.469G>C (p.Gly157Arg) c.243+226G>C (n.243+226G>C) c.499G>C (p.Gly167Arg) n.514G>C | |
19 | g.49061529C>T | CA406805516 | NTF4 | c.469G>A (p.Gly157Ser) c.243+226G>A (n.243+226G>A) c.499G>A (p.Gly167Ser) n.514G>A | gnomAD v4 |
19 | g.49061530C>A | CA508278955 | NTF4 | c.468G>T (p.Gly156=) c.243+225G>T (n.243+225G>T) c.498G>T (p.Gly166=) n.513G>T | |
19 | g.49061530C>G | CA508278956 | NTF4 | c.468G>C (p.Gly156=) c.243+225G>C (n.243+225G>C) c.498G>C (p.Gly166=) n.513G>C | |
19 | g.49061530C>T | CA508278957 | NTF4 | c.468G>A (p.Gly156=) c.243+225G>A (n.243+225G>A) c.498G>A (p.Gly166=) n.513G>A | |
19 | g.49061531C>A | CA406805518 | NTF4 | c.467G>T (p.Gly156Val) c.243+224G>T (n.243+224G>T) c.497G>T (p.Gly166Val) n.512G>T | |
19 | g.49061531C= | CA2340217318 | NTF4 | c.467G= (p.Gly156=) c.243+224G= (n.243+224G=) c.497G= (p.Gly166=) n.512G= | |
19 | g.49061531C>G | CA406805521 | NTF4 | c.467G>C (p.Gly156Ala) c.243+224G>C (n.243+224G>C) c.497G>C (p.Gly166Ala) n.512G>C | gnomAD v4 |
19 | g.49061531C>T | CA309446616 | NTF4 | c.467G>A (p.Gly156Glu) c.243+224G>A (n.243+224G>A) c.497G>A (p.Gly166Glu) n.512G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061532C>A | CA406805532 | NTF4 | c.466G>T (p.Gly156Trp) c.243+223G>T (n.243+223G>T) c.496G>T (p.Gly166Trp) n.511G>T | |
19 | g.49061532C>G | CA406805526 | NTF4 | c.466G>C (p.Gly156Arg) c.243+223G>C (n.243+223G>C) c.496G>C (p.Gly166Arg) n.511G>C | |
19 | g.49061532C>T | CA406805524 | NTF4 | c.466G>A (p.Gly156Arg) c.243+223G>A (n.243+223G>A) c.496G>A (p.Gly166Arg) n.511G>A | |
19 | g.49061533T>A | CA508278964 | NTF4 | c.465A>T (p.Gly155=) c.243+222A>T (n.243+222A>T) c.495A>T (p.Gly165=) n.510A>T | |
19 | g.49061533T>C | CA508278966 | NTF4 | c.465A>G (p.Gly155=) c.243+222A>G (n.243+222A>G) c.495A>G (p.Gly165=) n.510A>G | |
19 | g.49061533T>G | CA508278967 | NTF4 | c.465A>C (p.Gly155=) c.243+222A>C (n.243+222A>C) c.495A>C (p.Gly165=) n.510A>C | |
19 | g.49061534C>A | CA406805535 | NTF4 | c.464G>T (p.Gly155Val) c.243+221G>T (n.243+221G>T) c.494G>T (p.Gly165Val) n.509G>T | |
19 | g.49061534C= | CA2340217319 | NTF4 | c.464G= (p.Gly155=) c.243+221G= (n.243+221G=) c.494G= (p.Gly165=) n.509G= | |
19 | g.49061534C>G | CA406805537 | NTF4 | c.464G>C (p.Gly155Ala) c.243+221G>C (n.243+221G>C) c.494G>C (p.Gly165Ala) n.509G>C | |
19 | g.49061534C>T | CA406805543 | NTF4 | c.464G>A (p.Gly155Glu) c.243+221G>A (n.243+221G>A) c.494G>A (p.Gly165Glu) n.509G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061535C>A | CA406805546 | NTF4 | c.463G>T (p.Gly155Ter) c.243+220G>T (n.243+220G>T) c.493G>T (p.Gly165Ter) n.508G>T | |
19 | g.49061535C= | CA2340217320 | NTF4 | c.463G= (p.Gly155=) c.243+220G= (n.243+220G=) c.493G= (p.Gly165=) n.508G= | |
19 | g.49061535C>G | CA9565626 | NTF4 | c.463G>C (p.Gly155Arg) c.243+220G>C (n.243+220G>C) c.493G>C (p.Gly165Arg) n.508G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061535C>T | CA406805550 | NTF4 | c.463G>A (p.Gly155Arg) c.243+220G>A (n.243+220G>A) c.493G>A (p.Gly165Arg) n.508G>A | dbSNP |
19 | g.49061536A= | CA2340217321 | NTF4 | c.462T= (p.Gly154=) c.243+219T= (n.243+219T=) c.492T= (p.Gly164=) n.507T= | |
19 | g.49061536A>C | CA508278973 | NTF4 | c.462T>G (p.Gly154=) c.243+219T>G (n.243+219T>G) c.492T>G (p.Gly164=) n.507T>G | gnomAD v4 |
19 | g.49061536A>G | CA508278974 | NTF4 | c.462T>C (p.Gly154=) c.243+219T>C (n.243+219T>C) c.492T>C (p.Gly164=) n.507T>C | |
19 | g.49061536A>T | CA508278977 | NTF4 | c.462T>A (p.Gly154=) c.243+219T>A (n.243+219T>A) c.492T>A (p.Gly164=) n.507T>A | dbSNP gnomAD v4 |
19 | g.49061537C>A | CA406805553 | NTF4 | c.461G>T (p.Gly154Val) c.243+218G>T (n.243+218G>T) c.491G>T (p.Gly164Val) n.506G>T | |
19 | g.49061537C= | CA2340217322 | NTF4 | c.461G= (p.Gly154=) c.243+218G= (n.243+218G=) c.491G= (p.Gly164=) n.506G= | |
19 | g.49061537C>G | CA406805556 | NTF4 | c.461G>C (p.Gly154Ala) c.243+218G>C (n.243+218G>C) c.491G>C (p.Gly164Ala) n.506G>C | |
19 | g.49061537C>T | CA9565627 | NTF4 | c.461G>A (p.Gly154Asp) c.243+218G>A (n.243+218G>A) c.491G>A (p.Gly164Asp) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061538C>A | CA406805561 | NTF4 | c.460G>T (p.Gly154Cys) c.243+217G>T (n.243+217G>T) c.490G>T (p.Gly164Cys) n.505G>T | |
19 | g.49061538C= | CA2340217323 | NTF4 | c.460G= (p.Gly154=) c.243+217G= (n.243+217G=) c.490G= (p.Gly164=) n.505G= | |
19 | g.49061538C>G | CA9565628 | NTF4 | c.460G>C (p.Gly154Arg) c.243+217G>C (n.243+217G>C) c.490G>C (p.Gly164Arg) n.505G>C | dbSNP ExAC gnomAD v2 |
19 | g.49061538C>T | CA406805571 | NTF4 | c.460G>A (p.Gly154Ser) c.243+217G>A (n.243+217G>A) c.490G>A (p.Gly164Ser) n.505G>A | dbSNP |
19 | g.49061539T>A | CA508278984 | NTF4 | c.459A>T (p.Ala153=) c.243+216A>T (n.243+216A>T) c.489A>T (p.Ala163=) n.504A>T | |
19 | g.49061539T>C | CA508278985 | NTF4 | c.459A>G (p.Ala153=) c.243+216A>G (n.243+216A>G) c.489A>G (p.Ala163=) n.504A>G | |
19 | g.49061539T>G | CA508278986 | NTF4 | c.459A>C (p.Ala153=) c.243+216A>C (n.243+216A>C) c.489A>C (p.Ala163=) n.504A>C | |
19 | g.49061540G>A | CA9565629 | NTF4 | c.458C>T (p.Ala153Val) c.243+215C>T (n.243+215C>T) c.488C>T (p.Ala163Val) n.503C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061540G>C | CA406805576 | NTF4 | c.458C>G (p.Ala153Gly) c.243+215C>G (n.243+215C>G) c.488C>G (p.Ala163Gly) n.503C>G | |
19 | g.49061540G= | CA2340217324 | NTF4 | c.458C= (p.Ala153=) c.243+215C= (n.243+215C=) c.488C= (p.Ala163=) n.503C= | |
19 | g.49061540G>T | CA406805574 | NTF4 | c.458C>A (p.Ala153Glu) c.243+215C>A (n.243+215C>A) c.488C>A (p.Ala163Glu) n.503C>A | |
19 | g.49061541C>A | CA406805581 | NTF4 | c.457G>T (p.Ala153Ser) c.243+214G>T (n.243+214G>T) c.487G>T (p.Ala163Ser) n.502G>T | |
19 | g.49061541C= | CA2340217325 | NTF4 | c.457G= (p.Ala153=) c.243+214G= (n.243+214G=) c.487G= (p.Ala163=) n.502G= | |
19 | g.49061541C>G | CA406805587 | NTF4 | c.457G>C (p.Ala153Pro) c.243+214G>C (n.243+214G>C) c.487G>C (p.Ala163Pro) n.502G>C | gnomAD v4 |
19 | g.49061541C>T | CA9565630 | NTF4 | c.457G>A (p.Ala153Thr) c.243+214G>A (n.243+214G>A) c.487G>A (p.Ala163Thr) n.502G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061545dup | CA2832573733 | NTF4 | c.457dup (p.Ala153GlyfsTer17) c.243+214dup (n.243+214dup) c.487dup (p.Ala163GlyfsTer17) n.502dup | |
19 | g.49061542C>A | CA508278990 | NTF4 | c.456G>T (p.Gly152=) c.243+213G>T (n.243+213G>T) c.486G>T (p.Gly162=) n.501G>T | |
19 | g.49061542C>G | CA508278994 | NTF4 | c.456G>C (p.Gly152=) c.243+213G>C (n.243+213G>C) c.486G>C (p.Gly162=) n.501G>C | |
19 | g.49061542C>T | CA508278991 | NTF4 | c.456G>A (p.Gly152=) c.243+213G>A (n.243+213G>A) c.486G>A (p.Gly162=) n.501G>A | gnomAD v4 |
19 | g.49061543C>A | CA406805592 | NTF4 | c.455G>T (p.Gly152Val) c.243+212G>T (n.243+212G>T) c.485G>T (p.Gly162Val) n.500G>T | |
19 | g.49061543C= | CA2340217326 | NTF4 | c.455G= (p.Gly152=) c.243+212G= (n.243+212G=) c.485G= (p.Gly162=) n.500G= | |
19 | g.49061543C>G | CA406805596 | NTF4 | c.455G>C (p.Gly152Ala) c.243+212G>C (n.243+212G>C) c.485G>C (p.Gly162Ala) n.500G>C | |
19 | g.49061543C>T | CA406805598 | NTF4 | c.455G>A (p.Gly152Glu) c.243+212G>A (n.243+212G>A) c.485G>A (p.Gly162Glu) n.500G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061544C>A | CA406805601 | NTF4 | c.454G>T (p.Gly152Trp) c.243+211G>T (n.243+211G>T) c.484G>T (p.Gly162Trp) n.499G>T | |
19 | g.49061544C>G | CA406805609 | NTF4 | c.454G>C (p.Gly152Arg) c.243+211G>C (n.243+211G>C) c.484G>C (p.Gly162Arg) n.499G>C | |
19 | g.49061544C>T | CA406805612 | NTF4 | c.454G>A (p.Gly152Arg) c.243+211G>A (n.243+211G>A) c.484G>A (p.Gly162Arg) n.499G>A | |
19 | g.49061545C>A | CA508279001 | NTF4 | c.453G>T (p.Pro151=) c.243+210G>T (n.243+210G>T) c.483G>T (p.Pro161=) n.498G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061545C= | CA2340217327 | NTF4 | c.453G= (p.Pro151=) c.243+210G= (n.243+210G=) c.483G= (p.Pro161=) n.498G= | |
19 | g.49061545C>G | CA309446642 | NTF4 | c.453G>C (p.Pro151=) c.243+210G>C (n.243+210G>C) c.483G>C (p.Pro161=) n.498G>C | dbSNP gnomAD v4 |
19 | g.49061545C>T | CA9565631 | NTF4 | c.453G>A (p.Pro151=) c.243+210G>A (n.243+210G>A) c.483G>A (p.Pro161=) n.498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061546G>A | CA9565632 | NTF4 | c.452C>T (p.Pro151Leu) c.243+209C>T (n.243+209C>T) c.482C>T (p.Pro161Leu) n.497C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061546G>C | CA406805630 | NTF4 | c.452C>G (p.Pro151Arg) c.243+209C>G (n.243+209C>G) c.482C>G (p.Pro161Arg) n.497C>G | dbSNP gnomAD v4 |
19 | g.49061546G= | CA2340217328 | NTF4 | c.452C= (p.Pro151=) c.243+209C= (n.243+209C=) c.482C= (p.Pro161=) n.497C= | |
19 | g.49061546G>T | CA406805632 | NTF4 | c.452C>A (p.Pro151Gln) c.243+209C>A (n.243+209C>A) c.482C>A (p.Pro161Gln) n.497C>A | |
19 | g.49061548dup | CA633889999 | NTF4 | c.452dup (p.Ala153GlyfsTer17) c.243+209dup (n.243+209dup) c.482dup (p.Ala163GlyfsTer17) n.497dup | gnomAD v2 |
19 | g.49061547G>A | CA406805640 | NTF4 | c.451C>T (p.Pro151Ser) c.243+208C>T (n.243+208C>T) c.481C>T (p.Pro161Ser) n.496C>T | dbSNP |
19 | g.49061547G>C | CA406805637 | NTF4 | c.451C>G (p.Pro151Ala) c.243+208C>G (n.243+208C>G) c.481C>G (p.Pro161Ala) n.496C>G | |
19 | g.49061547G= | CA2340217329 | NTF4 | c.451C= (p.Pro151=) c.243+208C= (n.243+208C=) c.481C= (p.Pro161=) n.496C= | |
19 | g.49061547G>T | CA406805635 | NTF4 | c.451C>A (p.Pro151Thr) c.243+208C>A (n.243+208C>A) c.481C>A (p.Pro161Thr) n.496C>A | |
19 | g.49061548G>A | CA508279003 | NTF4 | c.450C>T (p.Gly150=) c.243+207C>T (n.243+207C>T) c.480C>T (p.Gly160=) n.495C>T | |
19 | g.49061548G>C | CA508279006 | NTF4 | c.450C>G (p.Gly150=) c.243+207C>G (n.243+207C>G) c.480C>G (p.Gly160=) n.495C>G | |
19 | g.49061548G>T | CA508279004 | NTF4 | c.450C>A (p.Gly150=) c.243+207C>A (n.243+207C>A) c.480C>A (p.Gly160=) n.495C>A | |
19 | g.49061549C>A | CA406805643 | NTF4 | c.449G>T (p.Gly150Val) c.243+206G>T (n.243+206G>T) c.479G>T (p.Gly160Val) n.494G>T | |
19 | g.49061549C>G | CA406805644 | NTF4 | c.449G>C (p.Gly150Ala) c.243+206G>C (n.243+206G>C) c.479G>C (p.Gly160Ala) n.494G>C | |
19 | g.49061549C>T | CA406805645 | NTF4 | c.449G>A (p.Gly150Asp) c.243+206G>A (n.243+206G>A) c.479G>A (p.Gly160Asp) n.494G>A | gnomAD v4 |
19 | g.49061550C>A | CA406805648 | NTF4 | c.448G>T (p.Gly150Cys) c.243+205G>T (n.243+205G>T) c.478G>T (p.Gly160Cys) n.493G>T | |
19 | g.49061550C>G | CA406805650 | NTF4 | c.448G>C (p.Gly150Arg) c.243+205G>C (n.243+205G>C) c.478G>C (p.Gly160Arg) n.493G>C | |
19 | g.49061550C>T | CA406805653 | NTF4 | c.448G>A (p.Gly150Ser) c.243+205G>A (n.243+205G>A) c.478G>A (p.Gly160Ser) n.493G>A | gnomAD v4 |
19 | g.49061551A= | CA2340217330 | NTF4 | c.447T= (p.Gly149=) c.243+204T= (n.243+204T=) c.477T= (p.Gly159=) n.492T= | |
19 | g.49061551A>C | CA508279009 | NTF4 | c.447T>G (p.Gly149=) c.243+204T>G (n.243+204T>G) c.477T>G (p.Gly159=) n.492T>G | dbSNP |
19 | g.49061551A>G | CA508279011 | NTF4 | c.447T>C (p.Gly149=) c.243+204T>C (n.243+204T>C) c.477T>C (p.Gly159=) n.492T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061551A>T | CA508279012 | NTF4 | c.447T>A (p.Gly149=) c.243+204T>A (n.243+204T>A) c.477T>A (p.Gly159=) n.492T>A | |
19 | g.49061552C>A | CA406805660 | NTF4 | c.446G>T (p.Gly149Val) c.243+203G>T (n.243+203G>T) c.476G>T (p.Gly159Val) n.491G>T | |
19 | g.49061552C= | CA2340217331 | NTF4 | c.446G= (p.Gly149=) c.243+203G= (n.243+203G=) c.476G= (p.Gly159=) n.491G= | |
19 | g.49061552C>G | CA406805661 | NTF4 | c.446G>C (p.Gly149Ala) c.243+203G>C (n.243+203G>C) c.476G>C (p.Gly159Ala) n.491G>C | |
19 | g.49061552C>T | CA406805663 | NTF4 | c.446G>A (p.Gly149Asp) c.243+203G>A (n.243+203G>A) c.476G>A (p.Gly159Asp) n.491G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061553C>A | CA406805665 | NTF4 | c.445G>T (p.Gly149Cys) c.243+202G>T (n.243+202G>T) c.475G>T (p.Gly159Cys) n.490G>T | |
19 | g.49061553C>G | CA406805669 | NTF4 | c.445G>C (p.Gly149Arg) c.243+202G>C (n.243+202G>C) c.475G>C (p.Gly159Arg) n.490G>C | |
19 | g.49061553C>T | CA406805672 | NTF4 | c.445G>A (p.Gly149Ser) c.243+202G>A (n.243+202G>A) c.475G>A (p.Gly159Ser) n.490G>A | |
19 | g.49061554T>A | CA406805676 | NTF4 | c.444A>T (p.Glu148Asp) c.243+201A>T (n.243+201A>T) c.474A>T (p.Glu158Asp) n.489A>T | |
19 | g.49061554T>C | CA508279016 | NTF4 | c.444A>G (p.Glu148=) c.243+201A>G (n.243+201A>G) c.474A>G (p.Glu158=) n.489A>G | |
19 | g.49061554T>G | CA406805675 | NTF4 | c.444A>C (p.Glu148Asp) c.243+201A>C (n.243+201A>C) c.474A>C (p.Glu158Asp) n.489A>C | |
19 | g.49061555T>A | CA406805681 | NTF4 | c.443A>T (p.Glu148Val) c.243+200A>T (n.243+200A>T) c.473A>T (p.Glu158Val) n.488A>T | |
19 | g.49061555T>C | CA406805682 | NTF4 | c.443A>G (p.Glu148Gly) c.243+200A>G (n.243+200A>G) c.473A>G (p.Glu158Gly) n.488A>G | |
19 | g.49061555T>G | CA406805686 | NTF4 | c.443A>C (p.Glu148Ala) c.243+200A>C (n.243+200A>C) c.473A>C (p.Glu158Ala) n.488A>C | |
19 | g.49061556C>A | CA406805689 | NTF4 | c.442G>T (p.Glu148Ter) c.243+199G>T (n.243+199G>T) c.472G>T (p.Glu158Ter) n.487G>T | |
19 | g.49061556C>G | CA406805692 | NTF4 | c.442G>C (p.Glu148Gln) c.243+199G>C (n.243+199G>C) c.472G>C (p.Glu158Gln) n.487G>C | |
19 | g.49061556C>T | CA406805695 | NTF4 | c.442G>A (p.Glu148Lys) c.243+199G>A (n.243+199G>A) c.472G>A (p.Glu158Lys) n.487G>A | |
19 | g.49061557C>A | CA406805701 | NTF4 | c.441G>T (p.Glu147Asp) c.243+198G>T (n.243+198G>T) c.471G>T (p.Glu157Asp) n.486G>T | |
19 | g.49061557C>G | CA406805698 | NTF4 | c.441G>C (p.Glu147Asp) c.243+198G>C (n.243+198G>C) c.471G>C (p.Glu157Asp) n.486G>C | |
19 | g.49061557C>T | CA508279020 | NTF4 | c.441G>A (p.Glu147=) c.243+198G>A (n.243+198G>A) c.471G>A (p.Glu157=) n.486G>A | gnomAD v4 |
19 | g.49061558T>A | CA406805704 | NTF4 | c.440A>T (p.Glu147Val) c.243+197A>T (n.243+197A>T) c.470A>T (p.Glu157Val) n.485A>T | |
19 | g.49061558T>C | CA406805705 | NTF4 | c.440A>G (p.Glu147Gly) c.243+197A>G (n.243+197A>G) c.470A>G (p.Glu157Gly) n.485A>G | |
19 | g.49061558T>G | CA406805708 | NTF4 | c.440A>C (p.Glu147Ala) c.243+197A>C (n.243+197A>C) c.470A>C (p.Glu157Ala) n.485A>C | |
19 | g.49061559C>A | CA406805709 | NTF4 | c.439G>T (p.Glu147Ter) c.243+196G>T (n.243+196G>T) c.469G>T (p.Glu157Ter) n.484G>T | |
19 | g.49061559C= | CA2340217332 | NTF4 | c.439G= (p.Glu147=) c.243+196G= (n.243+196G=) c.469G= (p.Glu157=) n.484G= | |
19 | g.49061559C>G | CA406805710 | NTF4 | c.439G>C (p.Glu147Gln) c.243+196G>C (n.243+196G>C) c.469G>C (p.Glu157Gln) n.484G>C | |
19 | g.49061559C>T | CA406805711 | NTF4 | c.439G>A (p.Glu147Lys) c.243+196G>A (n.243+196G>A) c.469G>A (p.Glu157Lys) n.484G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061559_49061560insCCC | CA2847670591 | NTF4 | c.439_440insGGG (p.Ala146_Glu147insGly) c.243+196_243+197insGGG (n.243+196_243+197insGGG) c.469_470insGGG (p.Ala156_Glu157insGly) n.484_485insGGG | |
19 | g.49061560A= | CA2340217333 | NTF4 | c.438T= (p.Ala146=) c.243+195T= (n.243+195T=) c.468T= (p.Ala156=) n.483T= | |
19 | g.49061560A>C | CA508279025 | NTF4 | c.438T>G (p.Ala146=) c.243+195T>G (n.243+195T>G) c.468T>G (p.Ala156=) n.483T>G | |
19 | g.49061560A>G | CA508279026 | NTF4 | c.438T>C (p.Ala146=) c.243+195T>C (n.243+195T>C) c.468T>C (p.Ala156=) n.483T>C | |
19 | g.49061560A>T | CA508279027 | NTF4 | c.438T>A (p.Ala146=) c.243+195T>A (n.243+195T>A) c.468T>A (p.Ala156=) n.483T>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061561G>A | CA406805727 | NTF4 | c.437C>T (p.Ala146Val) c.243+194C>T (n.243+194C>T) c.467C>T (p.Ala156Val) n.482C>T | |
19 | g.49061561G>C | CA406805736 | NTF4 | c.437C>G (p.Ala146Gly) c.243+194C>G (n.243+194C>G) c.467C>G (p.Ala156Gly) n.482C>G | |
19 | g.49061561G>T | CA406805732 | NTF4 | c.437C>A (p.Ala146Asp) c.243+194C>A (n.243+194C>A) c.467C>A (p.Ala156Asp) n.482C>A | |
19 | g.49061562C>A | CA9565633 | NTF4 | c.436G>T (p.Ala146Ser) c.243+193G>T (n.243+193G>T) c.466G>T (p.Ala156Ser) n.481G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.49061562C= | CA2340217334 | NTF4 | c.436G= (p.Ala146=) c.243+193G= (n.243+193G=) c.466G= (p.Ala156=) n.481G= | |
19 | g.49061562C>G | CA9565634 | NTF4 | c.436G>C (p.Ala146Pro) c.243+193G>C (n.243+193G>C) c.466G>C (p.Ala156Pro) n.481G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061562C>T | CA406805746 | NTF4 | c.436G>A (p.Ala146Thr) c.243+193G>A (n.243+193G>A) c.466G>A (p.Ala156Thr) n.481G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061563G>A | CA9565635 | NTF4 | c.435C>T (p.Asn145=) c.243+192C>T (n.243+192C>T) c.465C>T (p.Asn155=) n.480C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061563G>C | CA406805751 | NTF4 | c.435C>G (p.Asn145Lys) c.243+192C>G (n.243+192C>G) c.465C>G (p.Asn155Lys) n.480C>G | |
19 | g.49061563G= | CA2340217335 | NTF4 | c.435C= (p.Asn145=) c.243+192C= (n.243+192C=) c.465C= (p.Asn155=) n.480C= | |
19 | g.49061563G>T | CA406805755 | NTF4 | c.435C>A (p.Asn145Lys) c.243+192C>A (n.243+192C>A) c.465C>A (p.Asn155Lys) n.480C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061564T>A | CA406805758 | NTF4 | c.434A>T (p.Asn145Ile) c.243+191A>T (n.243+191A>T) c.464A>T (p.Asn155Ile) n.479A>T | |
19 | g.49061564T>C | CA406805761 | NTF4 | c.434A>G (p.Asn145Ser) c.243+191A>G (n.243+191A>G) c.464A>G (p.Asn155Ser) n.479A>G | |
19 | g.49061564T>G | CA406805765 | NTF4 | c.434A>C (p.Asn145Thr) c.243+191A>C (n.243+191A>C) c.464A>C (p.Asn155Thr) n.479A>C | |
19 | g.49061565T>A | CA406805774 | NTF4 | c.433A>T (p.Asn145Tyr) c.243+190A>T (n.243+190A>T) c.463A>T (p.Asn155Tyr) n.478A>T | |
19 | g.49061565T>C | CA406805777 | NTF4 | c.433A>G (p.Asn145Asp) c.243+190A>G (n.243+190A>G) c.463A>G (p.Asn155Asp) n.478A>G | |
19 | g.49061565T>G | CA406805780 | NTF4 | c.433A>C (p.Asn145His) c.243+190A>C (n.243+190A>C) c.463A>C (p.Asn155His) n.478A>C | |
19 | g.49061566A>C | CA406805790 | NTF4 | c.432T>G (p.Asp144Glu) c.243+189T>G (n.243+189T>G) c.462T>G (p.Asp154Glu) n.477T>G | |
19 | g.49061566A>G | CA508279034 | NTF4 | c.432T>C (p.Asp144=) c.243+189T>C (n.243+189T>C) c.462T>C (p.Asp154=) n.477T>C | gnomAD v4 |
19 | g.49061566A>T | CA406805781 | NTF4 | c.432T>A (p.Asp144Glu) c.243+189T>A (n.243+189T>A) c.462T>A (p.Asp154Glu) n.477T>A | |
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 |