Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49061759C>A | CA406806803 | NTF4 | c.239G>T (p.Arg80Leu) c.269G>T (p.Arg90Leu) n.284G>T | gnomAD v4 |
19 | g.49061759C= | CA2340217424 | NTF4 | c.239G= (p.Arg80=) c.269G= (p.Arg90=) n.284G= | |
19 | g.49061759C>G | CA406806805 | NTF4 | c.239G>C (p.Arg80Pro) c.269G>C (p.Arg90Pro) n.284G>C | |
19 | g.49061759C>T | CA406806807 | NTF4 | c.239G>A (p.Arg80His) c.269G>A (p.Arg90His) n.284G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061760G>A | CA9565694 | NTF4 | c.238C>T (p.Arg80Cys) c.268C>T (p.Arg90Cys) n.283C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061760G>C | CA406806810 | NTF4 | c.238C>G (p.Arg80Gly) c.268C>G (p.Arg90Gly) n.283C>G | |
19 | g.49061760G= | CA2340217425 | NTF4 | c.238C= (p.Arg80=) c.268C= (p.Arg90=) n.283C= | |
19 | g.49061760G>T | CA406806812 | NTF4 | c.238C>A (p.Arg80Ser) c.268C>A (p.Arg90Ser) n.283C>A | |
19 | g.49061761C>A | CA508279129 | NTF4 | c.237G>T (p.Arg79=) c.267G>T (p.Arg89=) n.282G>T | |
19 | g.49061761C>G | CA508279130 | NTF4 | c.237G>C (p.Arg79=) c.267G>C (p.Arg89=) n.282G>C | |
19 | g.49061761C>T | CA508279131 | NTF4 | c.237G>A (p.Arg79=) c.267G>A (p.Arg89=) n.282G>A | gnomAD v4 |
19 | g.49061763_49061784dup | CA2586311536 | NTF4 | c.216_237dup (p.Arg80CysfsTer21) c.216_237dup (p.Arg80CysfsTer?) c.246_267dup (p.Arg90CysfsTer21) n.261_282dup | gnomAD v4 |
19 | g.49061762C>A | CA406806817 | NTF4 | c.236G>T (p.Arg79Leu) c.266G>T (p.Arg89Leu) n.281G>T | |
19 | g.49061762C= | CA2340217426 | NTF4 | c.236G= (p.Arg79=) c.266G= (p.Arg89=) n.281G= | |
19 | g.49061762C>G | CA406806815 | NTF4 | c.236G>C (p.Arg79Pro) c.266G>C (p.Arg89Pro) n.281G>C | |
19 | g.49061762C>T | CA9565695 | NTF4 | c.236G>A (p.Arg79Gln) c.266G>A (p.Arg89Gln) n.281G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061763G>A | CA406806819 | NTF4 | c.235C>T (p.Arg79Trp) c.265C>T (p.Arg89Trp) n.280C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061763G>C | CA406806821 | NTF4 | c.235C>G (p.Arg79Gly) c.265C>G (p.Arg89Gly) n.280C>G | |
19 | g.49061763G= | CA2340217427 | NTF4 | c.235C= (p.Arg79=) c.265C= (p.Arg89=) n.280C= | |
19 | g.49061763G>T | CA508279133 | NTF4 | c.235C>A (p.Arg79=) c.265C>A (p.Arg89=) n.280C>A | gnomAD v4 |
19 | g.49061764G>A | CA508279135 | NTF4 | c.234C>T (p.Ser78=) c.264C>T (p.Ser88=) n.279C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061764G>C | CA406806823 | NTF4 | c.234C>G (p.Ser78Arg) c.264C>G (p.Ser88Arg) n.279C>G | |
19 | g.49061764G= | CA2340217428 | NTF4 | c.234C= (p.Ser78=) c.264C= (p.Ser88=) n.279C= | |
19 | g.49061764G>T | CA406806825 | NTF4 | c.234C>A (p.Ser78Arg) c.264C>A (p.Ser88Arg) n.279C>A | gnomAD v4 |
19 | g.49061764_49061765insT | CA2340217429 | NTF4 | c.233_234insA (p.Ser78ArgfsTer16) c.233_234insA (p.Ser78ArgfsTer?) c.263_264insA (p.Ser88ArgfsTer16) n.278_279insA | dbSNP |
19 | g.49061765C>A | CA406806827 | NTF4 | c.233G>T (p.Ser78Ile) c.263G>T (p.Ser88Ile) n.278G>T | |
19 | g.49061765C= | CA2340217430 | NTF4 | c.233G= (p.Ser78=) c.263G= (p.Ser88=) n.278G= | |
19 | g.49061765C>G | CA406806828 | NTF4 | c.233G>C (p.Ser78Thr) c.263G>C (p.Ser88Thr) n.278G>C | |
19 | g.49061765C>T | CA406806830 | NTF4 | c.233G>A (p.Ser78Asn) c.263G>A (p.Ser88Asn) n.278G>A | dbSNP gnomAD v2 |
19 | g.49061766T>A | CA406806832 | NTF4 | c.232A>T (p.Ser78Cys) c.262A>T (p.Ser88Cys) n.277A>T | |
19 | g.49061766T>C | CA406806834 | NTF4 | c.232A>G (p.Ser78Gly) c.262A>G (p.Ser88Gly) n.277A>G | |
19 | g.49061766T>G | CA406806836 | NTF4 | c.232A>C (p.Ser78Arg) c.262A>C (p.Ser88Arg) n.277A>C | |
19 | g.49061767G>A | CA508279137 | NTF4 | c.231C>T (p.Arg77=) c.261C>T (p.Arg87=) n.276C>T | gnomAD v4 |
19 | g.49061767G>C | CA508279139 | NTF4 | c.231C>G (p.Arg77=) c.261C>G (p.Arg87=) n.276C>G | |
19 | g.49061767G>T | CA508279141 | NTF4 | c.231C>A (p.Arg77=) c.261C>A (p.Arg87=) n.276C>A | gnomAD v4 |
19 | g.49061768C>A | CA406806838 | NTF4 | c.230G>T (p.Arg77Leu) c.260G>T (p.Arg87Leu) n.275G>T | gnomAD v4 |
19 | g.49061768C= | CA2340217431 | NTF4 | c.230G= (p.Arg77=) c.260G= (p.Arg87=) n.275G= | |
19 | g.49061768C>G | CA406806840 | NTF4 | c.230G>C (p.Arg77Pro) c.260G>C (p.Arg87Pro) n.275G>C | |
19 | g.49061768C>T | CA9565696 | NTF4 | c.230G>A (p.Arg77His) c.260G>A (p.Arg87His) n.275G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061769G>A | CA9565697 | NTF4 | c.229C>T (p.Arg77Cys) c.259C>T (p.Arg87Cys) n.274C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061769G>C | CA406806844 | NTF4 | c.229C>G (p.Arg77Gly) c.259C>G (p.Arg87Gly) n.274C>G | |
19 | g.49061769G= | CA2340217432 | NTF4 | c.229C= (p.Arg77=) c.259C= (p.Arg87=) n.274C= | |
19 | g.49061769G>T | CA406806846 | NTF4 | c.229C>A (p.Arg77Ser) c.259C>A (p.Arg87Ser) n.274C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061770G>A | CA508279144 | NTF4 | c.228C>T (p.Asn76=) c.258C>T (p.Asn86=) n.273C>T | |
19 | g.49061770G>C | CA406806848 | NTF4 | c.228C>G (p.Asn76Lys) c.258C>G (p.Asn86Lys) n.273C>G | |
19 | g.49061770G>T | CA406806850 | NTF4 | c.228C>A (p.Asn76Lys) c.258C>A (p.Asn86Lys) n.273C>A | gnomAD v4 COSMIC |
19 | g.49061771T>A | CA406806852 | NTF4 | c.227A>T (p.Asn76Ile) c.257A>T (p.Asn86Ile) n.272A>T | |
19 | g.49061771T>C | CA406806853 | NTF4 | c.227A>G (p.Asn76Ser) c.257A>G (p.Asn86Ser) n.272A>G | |
19 | g.49061771T>G | CA406806855 | NTF4 | c.227A>C (p.Asn76Thr) c.257A>C (p.Asn86Thr) n.272A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061771T= | CA2340217433 | NTF4 | c.227A= (p.Asn76=) c.257A= (p.Asn86=) n.272A= | |
19 | g.49061772T>A | CA406806857 | NTF4 | c.226A>T (p.Asn76Tyr) c.256A>T (p.Asn86Tyr) n.271A>T | |
19 | g.49061772T>C | CA406806859 | NTF4 | c.226A>G (p.Asn76Asp) c.256A>G (p.Asn86Asp) n.271A>G | |
19 | g.49061772T>G | CA9565698 | NTF4 | c.226A>C (p.Asn76His) c.256A>C (p.Asn86His) n.271A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061772T= | CA2340217434 | NTF4 | c.226A= (p.Asn76=) c.256A= (p.Asn86=) n.271A= | |
19 | g.49061773G>A | CA508279147 | NTF4 | c.225C>T (p.Ala75=) c.255C>T (p.Ala85=) n.270C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061773G>C | CA508279148 | NTF4 | c.225C>G (p.Ala75=) c.255C>G (p.Ala85=) n.270C>G | |
19 | g.49061773G= | CA2340217435 | NTF4 | c.225C= (p.Ala75=) c.255C= (p.Ala85=) n.270C= | |
19 | g.49061773G>T | CA508279149 | NTF4 | c.225C>A (p.Ala75=) c.255C>A (p.Ala85=) n.270C>A | |
19 | g.49061774G>A | CA9565700 | NTF4 | c.224C>T (p.Ala75Val) c.254C>T (p.Ala85Val) n.269C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061774G>C | CA406806862 | NTF4 | c.224C>G (p.Ala75Gly) c.254C>G (p.Ala85Gly) n.269C>G | |
19 | g.49061774G= | CA2340217436 | NTF4 | c.224C= (p.Ala75=) c.254C= (p.Ala85=) n.269C= | |
19 | g.49061774G>T | CA9565699 | NTF4 | c.224C>A (p.Ala75Asp) c.254C>A (p.Ala85Asp) n.269C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061775C>A | CA406806865 | NTF4 | c.223G>T (p.Ala75Ser) c.253G>T (p.Ala85Ser) n.268G>T | |
19 | g.49061775C= | CA2340217437 | NTF4 | c.223G= (p.Ala75=) c.253G= (p.Ala85=) n.268G= | |
19 | g.49061775C>G | CA406806867 | NTF4 | c.223G>C (p.Ala75Pro) c.253G>C (p.Ala85Pro) n.268G>C | |
19 | g.49061775C>T | CA309446946 | NTF4 | c.223G>A (p.Ala75Thr) c.253G>A (p.Ala85Thr) n.268G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061776del | CA2586311537 | NTF4 | c.223del (p.Ala75ProfsTer8) c.223del (p.Ala75ProfsTer?) c.253del (p.Ala85ProfsTer8) n.268del | gnomAD v4 |
19 | g.49061776C>A | CA508279152 | NTF4 | c.222G>T (p.Pro74=) c.252G>T (p.Pro84=) n.267G>T | gnomAD v4 |
19 | g.49061776C= | CA2340217438 | NTF4 | c.222G= (p.Pro74=) c.252G= (p.Pro84=) n.267G= | |
19 | g.49061776C>G | CA508279153 | NTF4 | c.222G>C (p.Pro74=) c.252G>C (p.Pro84=) n.267G>C | gnomAD v4 |
19 | g.49061776C>T | CA9565701 | NTF4 | c.222G>A (p.Pro74=) c.252G>A (p.Pro84=) n.267G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061776_49061777delinsCG | CA2340217439 | NTF4 | c.221_222delinsCG (p.Pro74=) c.251_252delinsCG (p.Pro84=) n.266_267delinsCG | |
19 | g.49061777G>A | CA309446965 | NTF4 | c.221C>T (p.Pro74Leu) c.251C>T (p.Pro84Leu) n.266C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061777G>C | CA406806871 | NTF4 | c.221C>G (p.Pro74Arg) c.251C>G (p.Pro84Arg) n.266C>G | |
19 | g.49061777G= | CA2340217441 | NTF4 | c.221C= (p.Pro74=) c.251C= (p.Pro84=) n.266C= | |
19 | g.49061777G>T | CA406806872 | NTF4 | c.221C>A (p.Pro74Gln) c.251C>A (p.Pro84Gln) n.266C>A | gnomAD v4 COSMIC |
19 | g.49061780del | CA2340217440 | NTF4 | c.221del (p.Pro74ArgfsTer9) c.221del (p.Pro74ArgfsTer?) c.251del (p.Pro84ArgfsTer9) n.266del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061778G>A | CA406806876 | NTF4 | c.220C>T (p.Pro74Ser) c.250C>T (p.Pro84Ser) n.265C>T | dbSNP gnomAD v2 |
19 | g.49061778G>C | CA406806877 | NTF4 | c.220C>G (p.Pro74Ala) c.250C>G (p.Pro84Ala) n.265C>G | |
19 | g.49061778G= | CA2340217442 | NTF4 | c.220C= (p.Pro74=) c.250C= (p.Pro84=) n.265C= | |
19 | g.49061778G>T | CA406806879 | NTF4 | c.220C>A (p.Pro74Thr) c.250C>A (p.Pro84Thr) n.265C>A | gnomAD v4 |
19 | g.49061779G>A | CA9565702 | NTF4 | c.219C>T (p.Ala73=) c.249C>T (p.Ala83=) n.264C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061779G>C | CA508279158 | NTF4 | c.219C>G (p.Ala73=) c.249C>G (p.Ala83=) n.264C>G | |
19 | g.49061779G= | CA2340217444 | NTF4 | c.219C= (p.Ala73=) c.249C= (p.Ala83=) n.264C= | |
19 | g.49061779G>T | CA508279159 | NTF4 | c.219C>A (p.Ala73=) c.249C>A (p.Ala83=) n.264C>A | gnomAD v4 |
19 | g.49061779_49061783delinsGGCAC | CA2340217443 | NTF4 | c.215_219delinsGTGCC (p.Gly72=) c.245_249delinsGTGCC (p.Gly82=) n.260_264delinsGTGCC | |
19 | g.49061780G>A | CA406806882 | NTF4 | c.218C>T (p.Ala73Val) c.248C>T (p.Ala83Val) n.263C>T | gnomAD v4 COSMIC |
19 | g.49061780G>C | CA406806884 | NTF4 | c.218C>G (p.Ala73Gly) c.248C>G (p.Ala83Gly) n.263C>G | |
19 | g.49061780G>T | CA406806886 | NTF4 | c.218C>A (p.Ala73Asp) c.248C>A (p.Ala83Asp) n.263C>A | gnomAD v4 COSMIC |
19 | g.49061780_49061783del | CA2340217445 | NTF4 | c.215_218del (p.Gly72AlafsTer10) c.215_218del (p.Gly72AlafsTer?) c.245_248del (p.Gly82AlafsTer10) n.260_263del | dbSNP |
19 | g.49061781C>A | CA406806887 | NTF4 | c.217G>T (p.Ala73Ser) c.247G>T (p.Ala83Ser) n.262G>T | gnomAD v4 |
19 | g.49061781C= | CA2340217446 | NTF4 | c.217G= (p.Ala73=) c.247G= (p.Ala83=) n.262G= | |
19 | g.49061781C>G | CA406806889 | NTF4 | c.217G>C (p.Ala73Pro) c.247G>C (p.Ala83Pro) n.262G>C | dbSNP |
19 | g.49061781C>T | CA9565703 | NTF4 | c.217G>A (p.Ala73Thr) c.247G>A (p.Ala83Thr) n.262G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061782A= | CA2340217447 | NTF4 | c.216T= (p.Gly72=) c.246T= (p.Gly82=) n.261T= | |
19 | g.49061782A>C | CA508279161 | NTF4 | c.216T>G (p.Gly72=) c.246T>G (p.Gly82=) n.261T>G | |
19 | g.49061782A>G | CA508279162 | NTF4 | c.216T>C (p.Gly72=) c.246T>C (p.Gly82=) n.261T>C | dbSNP |
19 | g.49061782A>T | CA508279163 | NTF4 | c.216T>A (p.Gly72=) c.246T>A (p.Gly82=) n.261T>A | |
19 | g.49061783C>A | CA406806894 | NTF4 | c.215G>T (p.Gly72Val) c.245G>T (p.Gly82Val) n.260G>T | |
19 | g.49061783C= | CA2340217448 | NTF4 | c.215G= (p.Gly72=) c.245G= (p.Gly82=) n.260G= | |
19 | g.49061783C>G | CA406806892 | NTF4 | c.215G>C (p.Gly72Ala) c.245G>C (p.Gly82Ala) n.260G>C | |
19 | g.49061783C>T | CA309446980 | NTF4 | c.215G>A (p.Gly72Asp) c.245G>A (p.Gly82Asp) n.260G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061784C>A | CA406806897 | NTF4 | c.214G>T (p.Gly72Cys) c.244G>T (p.Gly82Cys) n.259G>T | gnomAD v4 |
19 | g.49061784C= | CA2340217449 | NTF4 | c.214G= (p.Gly72=) c.244G= (p.Gly82=) n.259G= | |
19 | g.49061784C>G | CA406806898 | NTF4 | c.214G>C (p.Gly72Arg) c.244G>C (p.Gly82Arg) n.259G>C | dbSNP gnomAD v2 |
19 | g.49061784C>T | CA406806900 | NTF4 | c.214G>A (p.Gly72Ser) c.244G>A (p.Gly82Ser) n.259G>A | |
19 | g.49061785T>A | CA508279168 | NTF4 | c.213A>T (p.Ala71=) c.243A>T (p.Ala81=) n.258A>T | gnomAD v4 |
19 | g.49061785T>C | CA508279169 | NTF4 | c.213A>G (p.Ala71=) c.243A>G (p.Ala81=) n.258A>G | |
19 | g.49061785T>G | CA508279167 | NTF4 | c.213A>C (p.Ala71=) c.243A>C (p.Ala81=) n.258A>C | |
19 | g.49061786G>A | CA406806902 | NTF4 | c.212C>T (p.Ala71Val) c.242C>T (p.Ala81Val) n.257C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061786G>C | CA406806906 | NTF4 | c.212C>G (p.Ala71Gly) c.242C>G (p.Ala81Gly) n.257C>G | |
19 | g.49061786G= | CA2340217450 | NTF4 | c.212C= (p.Ala71=) c.242C= (p.Ala81=) n.257C= | |
19 | g.49061786G>T | CA406806909 | NTF4 | c.212C>A (p.Ala71Glu) c.242C>A (p.Ala81Glu) n.257C>A | gnomAD v4 |
19 | g.49061787C>A | CA406806911 | NTF4 | c.211G>T (p.Ala71Ser) c.241G>T (p.Ala81Ser) n.256G>T | |
19 | g.49061787C>G | CA406806913 | NTF4 | c.211G>C (p.Ala71Pro) c.241G>C (p.Ala81Pro) n.256G>C | |
19 | g.49061787C>T | CA406806915 | NTF4 | c.211G>A (p.Ala71Thr) c.241G>A (p.Ala81Thr) n.256G>A | |
19 | g.49061788T>A | CA508279174 | NTF4 | c.210A>T (p.Ser70=) c.240A>T (p.Ser80=) n.255A>T | |
19 | g.49061788T>C | CA508279175 | NTF4 | c.210A>G (p.Ser70=) c.240A>G (p.Ser80=) n.255A>G | dbSNP |
19 | g.49061788T>G | CA508279176 | NTF4 | c.210A>C (p.Ser70=) c.240A>C (p.Ser80=) n.255A>C | |
19 | g.49061788T= | CA2340217451 | NTF4 | c.210A= (p.Ser70=) c.240A= (p.Ser80=) n.255A= | |
19 | g.49061789G>A | CA406806917 | NTF4 | c.209C>T (p.Ser70Leu) c.239C>T (p.Ser80Leu) n.254C>T | |
19 | g.49061789G>C | CA406806919 | NTF4 | c.209C>G (p.Ser70Ter) c.239C>G (p.Ser80Ter) n.254C>G | |
19 | g.49061789G= | CA2340217452 | NTF4 | c.209C= (p.Ser70=) c.239C= (p.Ser80=) n.254C= | |
19 | g.49061789G>T | CA406806921 | NTF4 | c.209C>A (p.Ser70Ter) c.239C>A (p.Ser80Ter) n.254C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061790A>C | CA406806926 | NTF4 | c.208T>G (p.Ser70Ala) c.238T>G (p.Ser80Ala) n.253T>G | |
19 | g.49061790A>G | CA406806924 | NTF4 | c.208T>C (p.Ser70Pro) c.238T>C (p.Ser80Pro) n.253T>C | |
19 | g.49061790A>T | CA406806922 | NTF4 | c.208T>A (p.Ser70Thr) c.238T>A (p.Ser80Thr) n.253T>A | |
19 | g.49061791C>A | CA406806928 | NTF4 | c.207G>T (p.Glu69Asp) c.237G>T (p.Glu79Asp) n.252G>T | gnomAD v4 |
19 | g.49061791C>G | CA406806930 | NTF4 | c.207G>C (p.Glu69Asp) c.237G>C (p.Glu79Asp) n.252G>C | |
19 | g.49061791C>T | CA508279180 | NTF4 | c.207G>A (p.Glu69=) c.237G>A (p.Glu79=) n.252G>A | |
19 | g.49061792T>A | CA406806932 | NTF4 | c.206A>T (p.Glu69Val) c.236A>T (p.Glu79Val) n.251A>T | |
19 | g.49061792T>C | CA406806934 | NTF4 | c.206A>G (p.Glu69Gly) c.236A>G (p.Glu79Gly) n.251A>G | |
19 | g.49061792T>G | CA406806936 | NTF4 | c.206A>C (p.Glu69Ala) c.236A>C (p.Glu79Ala) n.251A>C | |
19 | g.49061792_49061793delinsTC | CA2340217453 | NTF4 | c.205_206delinsGA (p.Glu69=) c.235_236delinsGA (p.Glu79=) n.250_251delinsGA | |
19 | g.49061793C>A | CA406806938 | NTF4 | c.205G>T (p.Glu69Ter) c.235G>T (p.Glu79Ter) n.250G>T | |
19 | g.49061793C>G | CA406806940 | NTF4 | c.205G>C (p.Glu69Gln) c.235G>C (p.Glu79Gln) n.250G>C | |
19 | g.49061793C>T | CA406806941 | NTF4 | c.205G>A (p.Glu69Lys) c.235G>A (p.Glu79Lys) n.250G>A | gnomAD v4 |
19 | g.49061795del | CA633890022 | NTF4 | c.205del (p.Glu69SerfsTer14) c.205del (p.Glu69SerfsTer?) c.235del (p.Glu79SerfsTer14) n.250del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061794C>A | CA508279183 | NTF4 | c.204G>T (p.Arg68=) c.234G>T (p.Arg78=) n.249G>T | gnomAD v4 |
19 | g.49061794C= | CA2340217454 | NTF4 | c.204G= (p.Arg68=) c.234G= (p.Arg78=) n.249G= | |
19 | g.49061794C>G | CA508279184 | NTF4 | c.204G>C (p.Arg68=) c.234G>C (p.Arg78=) n.249G>C | |
19 | g.49061794C>T | CA309446985 | NTF4 | c.204G>A (p.Arg68=) c.234G>A (p.Arg78=) n.249G>A | dbSNP gnomAD v2 |
19 | g.49061795C>A | CA406806943 | NTF4 | c.203G>T (p.Arg68Leu) c.233G>T (p.Arg78Leu) n.248G>T | gnomAD v4 |
19 | g.49061795C= | CA2340217455 | NTF4 | c.203G= (p.Arg68=) c.233G= (p.Arg78=) n.248G= | |
19 | g.49061795C>G | CA406806945 | NTF4 | c.203G>C (p.Arg68Pro) c.233G>C (p.Arg78Pro) n.248G>C | |
19 | g.49061795C>T | CA9565704 | NTF4 | c.203G>A (p.Arg68Gln) c.233G>A (p.Arg78Gln) n.248G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061796G>A | CA406806948 | NTF4 | c.202C>T (p.Arg68Trp) c.232C>T (p.Arg78Trp) n.247C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061796G>C | CA309446995 | NTF4 | c.202C>G (p.Arg68Gly) c.232C>G (p.Arg78Gly) n.247C>G | dbSNP gnomAD v4 |
19 | g.49061796G= | CA2340217456 | NTF4 | c.202C= (p.Arg68=) c.232C= (p.Arg78=) n.247C= | |
19 | g.49061796G>T | CA508279188 | NTF4 | c.202C>A (p.Arg68=) c.232C>A (p.Arg78=) n.247C>A | dbSNP gnomAD v4 |
19 | g.49061797A>C | CA406806951 | NTF4 | c.201T>G (p.Phe67Leu) c.231T>G (p.Phe77Leu) n.246T>G | |
19 | g.49061797A>G | CA508279189 | NTF4 | c.201T>C (p.Phe67=) c.231T>C (p.Phe77=) n.246T>C | gnomAD v4 |
19 | g.49061797A>T | CA406806953 | NTF4 | c.201T>A (p.Phe67Leu) c.231T>A (p.Phe77Leu) n.246T>A | |
19 | g.49061798A>C | CA406806958 | NTF4 | c.200T>G (p.Phe67Cys) c.230T>G (p.Phe77Cys) n.245T>G | |
19 | g.49061798A>G | CA406806955 | NTF4 | c.200T>C (p.Phe67Ser) c.230T>C (p.Phe77Ser) n.245T>C | gnomAD v4 |
19 | g.49061798A>T | CA406806956 | NTF4 | c.200T>A (p.Phe67Tyr) c.230T>A (p.Phe77Tyr) n.245T>A | |
19 | g.49061799A>C | CA406806959 | NTF4 | c.199T>G (p.Phe67Val) c.229T>G (p.Phe77Val) n.244T>G | gnomAD v4 |
19 | g.49061799A>G | CA406806961 | NTF4 | c.199T>C (p.Phe67Leu) c.229T>C (p.Phe77Leu) n.244T>C | |
19 | g.49061799A>T | CA406806963 | NTF4 | c.199T>A (p.Phe67Ile) c.229T>A (p.Phe77Ile) n.244T>A | |
19 | g.49061800G>A | CA508279193 | NTF4 | c.198C>T (p.Ala66=) c.228C>T (p.Ala76=) n.243C>T | |
19 | g.49061800G>C | CA508279195 | NTF4 | c.198C>G (p.Ala66=) c.228C>G (p.Ala76=) n.243C>G | |
19 | g.49061800G>T | CA508279196 | NTF4 | c.198C>A (p.Ala66=) c.228C>A (p.Ala76=) n.243C>A | gnomAD v4 |
19 | g.49061801G>A | CA406806965 | NTF4 | c.197C>T (p.Ala66Val) c.227C>T (p.Ala76Val) n.242C>T | dbSNP gnomAD v4 |
19 | g.49061801G>C | CA406806966 | NTF4 | c.197C>G (p.Ala66Gly) c.227C>G (p.Ala76Gly) n.242C>G | |
19 | g.49061801G= | CA2340217457 | NTF4 | c.197C= (p.Ala66=) c.227C= (p.Ala76=) n.242C= | |
19 | g.49061801G>T | CA406806967 | NTF4 | c.197C>A (p.Ala66Asp) c.227C>A (p.Ala76Asp) n.242C>A | gnomAD v4 |
19 | g.49061802C>A | CA406806970 | NTF4 | c.196G>T (p.Ala66Ser) c.226G>T (p.Ala76Ser) n.241G>T | |
19 | g.49061802C= | CA2340217458 | NTF4 | c.196G= (p.Ala66=) c.226G= (p.Ala76=) n.241G= | |
19 | g.49061802C>G | CA406806971 | NTF4 | c.196G>C (p.Ala66Pro) c.226G>C (p.Ala76Pro) n.241G>C | dbSNP gnomAD v4 |
19 | g.49061802C>T | CA406806973 | NTF4 | c.196G>A (p.Ala66Thr) c.226G>A (p.Ala76Thr) n.241G>A | gnomAD v4 |
19 | g.49061803C>A | CA508279199 | NTF4 | c.195G>T (p.Gly65=) c.225G>T (p.Gly75=) n.240G>T | |
19 | g.49061803C= | CA2340217459 | NTF4 | c.195G= (p.Gly65=) c.225G= (p.Gly75=) n.240G= | |
19 | g.49061803C>G | CA508279200 | NTF4 | c.195G>C (p.Gly65=) c.225G>C (p.Gly75=) n.240G>C | gnomAD v3 gnomAD v4 |
19 | g.49061803C>T | CA508279202 | NTF4 | c.195G>A (p.Gly65=) c.225G>A (p.Gly75=) n.240G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061804C>A | CA406806976 | NTF4 | c.194G>T (p.Gly65Val) c.224G>T (p.Gly75Val) n.239G>T | gnomAD v4 |
19 | g.49061804C>G | CA406806978 | NTF4 | c.194G>C (p.Gly65Ala) c.224G>C (p.Gly75Ala) n.239G>C | |
19 | g.49061804C>T | CA406806979 | NTF4 | c.194G>A (p.Gly65Glu) c.224G>A (p.Gly75Glu) n.239G>A | |
19 | g.49061805C>A | CA406806981 | NTF4 | c.193G>T (p.Gly65Trp) c.223G>T (p.Gly75Trp) n.238G>T | |
19 | g.49061805C= | CA2340217460 | NTF4 | c.193G= (p.Gly65=) c.223G= (p.Gly75=) n.238G= | |
19 | g.49061805C>G | CA406806983 | NTF4 | c.193G>C (p.Gly65Arg) c.223G>C (p.Gly75Arg) n.238G>C | |
19 | g.49061805C>T | CA309447001 | NTF4 | c.193G>A (p.Gly65Arg) c.223G>A (p.Gly75Arg) n.238G>A | dbSNP gnomAD v4 |
19 | g.49061806A>C | CA508279206 | NTF4 | c.192T>G (p.Ala64=) c.222T>G (p.Ala74=) n.237T>G | |
19 | g.49061806A>G | CA508279208 | NTF4 | c.192T>C (p.Ala64=) c.222T>C (p.Ala74=) n.237T>C | gnomAD v4 |
19 | g.49061806A>T | CA508279207 | NTF4 | c.192T>A (p.Ala64=) c.222T>A (p.Ala74=) n.237T>A | |
19 | g.49061807G>A | CA406806985 | NTF4 | c.191C>T (p.Ala64Val) c.221C>T (p.Ala74Val) n.236C>T | |
19 | g.49061807G>C | CA406806987 | NTF4 | c.191C>G (p.Ala64Gly) c.221C>G (p.Ala74Gly) n.236C>G | |
19 | g.49061807G>T | CA406806989 | NTF4 | c.191C>A (p.Ala64Asp) c.221C>A (p.Ala74Asp) n.236C>A | |
19 | g.49061808C>A | CA406806991 | NTF4 | c.190G>T (p.Ala64Ser) c.220G>T (p.Ala74Ser) n.235G>T | gnomAD v4 |
19 | g.49061808C>G | CA406806993 | NTF4 | c.190G>C (p.Ala64Pro) c.220G>C (p.Ala74Pro) n.235G>C | |
19 | g.49061808C>T | CA406806995 | NTF4 | c.190G>A (p.Ala64Thr) c.220G>A (p.Ala74Thr) n.235G>A | gnomAD v4 |
19 | g.49061809C>A | CA406806998 | NTF4 | c.189G>T (p.Glu63Asp) c.219G>T (p.Glu73Asp) n.234G>T | gnomAD v4 |
19 | g.49061809C= | CA2340217461 | NTF4 | c.189G= (p.Glu63=) c.219G= (p.Glu73=) n.234G= | |
19 | g.49061809C>G | CA406806999 | NTF4 | c.189G>C (p.Glu63Asp) c.219G>C (p.Glu73Asp) n.234G>C | |
19 | g.49061809C>T | CA508279213 | NTF4 | c.189G>A (p.Glu63=) c.219G>A (p.Glu73=) n.234G>A | dbSNP |
19 | g.49061810T>A | CA406807001 | NTF4 | c.188A>T (p.Glu63Val) c.218A>T (p.Glu73Val) n.233A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061810T>C | CA406807003 | NTF4 | c.188A>G (p.Glu63Gly) c.218A>G (p.Glu73Gly) n.233A>G | |
19 | g.49061810T>G | CA406807005 | NTF4 | c.188A>C (p.Glu63Ala) c.218A>C (p.Glu73Ala) n.233A>C | |
19 | g.49061810T= | CA2340217462 | NTF4 | c.188A= (p.Glu63=) c.218A= (p.Glu73=) n.233A= | |
19 | g.49061810_49061813dup | CA2586311538 | NTF4 | c.185_188dup (p.Glu63AspfsTer32) c.185_188dup (p.Glu63AspfsTer?) c.215_218dup (p.Glu73AspfsTer32) n.230_233dup | gnomAD v4 |
19 | g.49061811C>A | CA406807010 | NTF4 | c.187G>T (p.Glu63Ter) c.217G>T (p.Glu73Ter) n.232G>T | gnomAD v4 |
19 | g.49061811C>G | CA406807009 | NTF4 | c.187G>C (p.Glu63Gln) c.217G>C (p.Glu73Gln) n.232G>C | |
19 | g.49061811C>T | CA406807007 | NTF4 | c.187G>A (p.Glu63Lys) c.217G>A (p.Glu73Lys) n.232G>A | |
19 | g.49061812C>A | CA508279215 | NTF4 | c.186G>T (p.Leu62=) c.216G>T (p.Leu72=) n.231G>T | gnomAD v4 |
19 | g.49061812C>G | CA508279216 | NTF4 | c.186G>C (p.Leu62=) c.216G>C (p.Leu72=) n.231G>C | |
19 | g.49061812C>T | CA508279217 | NTF4 | c.186G>A (p.Leu62=) c.216G>A (p.Leu72=) n.231G>A | gnomAD v4 |
19 | g.49061813A>C | CA406807012 | NTF4 | c.185T>G (p.Leu62Arg) c.215T>G (p.Leu72Arg) n.230T>G | |
19 | g.49061813A>G | CA406807014 | NTF4 | c.185T>C (p.Leu62Pro) c.215T>C (p.Leu72Pro) n.230T>C | |
19 | g.49061813A>T | CA406807016 | NTF4 | c.185T>A (p.Leu62Gln) c.215T>A (p.Leu72Gln) n.230T>A | gnomAD v4 |
19 | g.49061814G>A | CA508279218 | NTF4 | c.184C>T (p.Leu62=) c.214C>T (p.Leu72=) n.229C>T | |
19 | g.49061814G>C | CA406807018 | NTF4 | c.184C>G (p.Leu62Val) c.214C>G (p.Leu72Val) n.229C>G | |
19 | g.49061814G>T | CA406807019 | NTF4 | c.184C>A (p.Leu62Met) c.214C>A (p.Leu72Met) n.229C>A | gnomAD v4 |
19 | g.49061815C>A | CA508279219 | NTF4 | c.183G>T (p.Leu61=) c.213G>T (p.Leu71=) n.228G>T | dbSNP gnomAD v4 |
19 | g.49061815C= | CA2340217463 | NTF4 | c.183G= (p.Leu61=) c.213G= (p.Leu71=) n.228G= | |
19 | g.49061815C>G | CA508279220 | NTF4 | c.183G>C (p.Leu61=) c.213G>C (p.Leu71=) n.228G>C | |
19 | g.49061815C>T | CA508279221 | NTF4 | c.183G>A (p.Leu61=) c.213G>A (p.Leu71=) n.228G>A | |
19 | g.49061816A>C | CA406807022 | NTF4 | c.182T>G (p.Leu61Arg) c.212T>G (p.Leu71Arg) n.227T>G | |
19 | g.49061816A>G | CA406807024 | NTF4 | c.182T>C (p.Leu61Pro) c.212T>C (p.Leu71Pro) n.227T>C | gnomAD v4 |
19 | g.49061816A>T | CA406807025 | NTF4 | c.182T>A (p.Leu61Gln) c.212T>A (p.Leu71Gln) n.227T>A | |
19 | g.49061817G>A | CA508279222 | NTF4 | c.181C>T (p.Leu61=) c.211C>T (p.Leu71=) n.226C>T | |
19 | g.49061817G>C | CA406807028 | NTF4 | c.181C>G (p.Leu61Val) c.211C>G (p.Leu71Val) n.226C>G | |
19 | g.49061817G>T | CA406807029 | NTF4 | c.181C>A (p.Leu61Met) c.211C>A (p.Leu71Met) n.226C>A | |
19 | g.49061818G>A | CA508279223 | NTF4 | c.180C>T (p.Phe60=) c.210C>T (p.Phe70=) n.225C>T | gnomAD v4 |
19 | g.49061818G>C | CA406807031 | NTF4 | c.180C>G (p.Phe60Leu) c.210C>G (p.Phe70Leu) n.225C>G | |
19 | g.49061818G>T | CA406807032 | NTF4 | c.180C>A (p.Phe60Leu) c.210C>A (p.Phe70Leu) n.225C>A | gnomAD v4 |
19 | g.49061819A>C | CA406807035 | NTF4 | c.179T>G (p.Phe60Cys) c.209T>G (p.Phe70Cys) n.224T>G | |
19 | g.49061819A>G | CA406807036 | NTF4 | c.179T>C (p.Phe60Ser) c.209T>C (p.Phe70Ser) n.224T>C | |
19 | g.49061819A>T | CA406807033 | NTF4 | c.179T>A (p.Phe60Tyr) c.209T>A (p.Phe70Tyr) n.224T>A | |
19 | g.49061820A>C | CA406807041 | NTF4 | c.178T>G (p.Phe60Val) c.208T>G (p.Phe70Val) n.223T>G | |
19 | g.49061820A>G | CA406807038 | NTF4 | c.178T>C (p.Phe60Leu) c.208T>C (p.Phe70Leu) n.223T>C | |
19 | g.49061820A>T | CA406807040 | NTF4 | c.178T>A (p.Phe60Ile) c.208T>A (p.Phe70Ile) n.223T>A | |
19 | g.49061821G>A | CA508279224 | NTF4 | c.177C>T (p.Leu59=) c.207C>T (p.Leu69=) n.222C>T | gnomAD v4 |
19 | g.49061821G>C | CA508279225 | NTF4 | c.177C>G (p.Leu59=) c.207C>G (p.Leu69=) n.222C>G | |
19 | g.49061821G>T | CA508279226 | NTF4 | c.177C>A (p.Leu59=) c.207C>A (p.Leu69=) n.222C>A | |
19 | g.49061822A>C | CA406807044 | NTF4 | c.176T>G (p.Leu59Arg) c.206T>G (p.Leu69Arg) n.221T>G | |
19 | g.49061822A>G | CA406807047 | NTF4 | c.176T>C (p.Leu59Pro) c.206T>C (p.Leu69Pro) n.221T>C | |
19 | g.49061822A>T | CA406807049 | NTF4 | c.176T>A (p.Leu59His) c.206T>A (p.Leu69His) n.221T>A | |
19 | g.49061823G>A | CA406807052 | NTF4 | c.175C>T (p.Leu59Phe) c.205C>T (p.Leu69Phe) n.220C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061823G>C | CA406807055 | NTF4 | c.175C>G (p.Leu59Val) c.205C>G (p.Leu69Val) n.220C>G | |
19 | g.49061823G= | CA2340217464 | NTF4 | c.175C= (p.Leu59=) c.205C= (p.Leu69=) n.220C= | |
19 | g.49061823G>T | CA406807057 | NTF4 | c.175C>A (p.Leu59Ile) c.205C>A (p.Leu69Ile) n.220C>A | gnomAD v4 |
19 | g.49061824C>A | CA508279227 | NTF4 | c.174G>T (p.Leu58=) c.204G>T (p.Leu68=) n.219G>T | |
19 | g.49061824C>G | CA508279229 | NTF4 | c.174G>C (p.Leu58=) c.204G>C (p.Leu68=) n.219G>C | |
19 | g.49061824C>T | CA508279228 | NTF4 | c.174G>A (p.Leu58=) c.204G>A (p.Leu68=) n.219G>A | |
19 | g.49061825A>C | CA406807060 | NTF4 | c.173T>G (p.Leu58Arg) c.203T>G (p.Leu68Arg) n.218T>G | |
19 | g.49061825A>G | CA406807061 | NTF4 | c.173T>C (p.Leu58Pro) c.203T>C (p.Leu68Pro) n.218T>C | |
19 | g.49061825A>T | CA406807063 | NTF4 | c.173T>A (p.Leu58Gln) c.203T>A (p.Leu68Gln) n.218T>A | |
19 | g.49061826G>A | CA508279230 | NTF4 | c.172C>T (p.Leu58=) c.202C>T (p.Leu68=) n.217C>T | gnomAD v4 |
19 | g.49061826G>C | CA406807065 | NTF4 | c.172C>G (p.Leu58Val) c.202C>G (p.Leu68Val) n.217C>G | |
19 | g.49061826G>T | CA406807066 | NTF4 | c.172C>A (p.Leu58Met) c.202C>A (p.Leu68Met) n.217C>A | gnomAD v4 |
19 | g.49061827del | CA2586311539 | NTF4 | c.171del (p.Leu58CysfsTer25) c.171del (p.Leu58CysfsTer?) c.201del (p.Leu68CysfsTer25) n.216del | gnomAD v4 |
19 | g.49061827A>C | CA508279231 | NTF4 | c.171T>G (p.Pro57=) c.201T>G (p.Pro67=) n.216T>G | gnomAD v4 |
19 | g.49061827A>G | CA508279232 | NTF4 | c.171T>C (p.Pro57=) c.201T>C (p.Pro67=) n.216T>C | gnomAD v4 |
19 | g.49061827A>T | CA508279233 | NTF4 | c.171T>A (p.Pro57=) c.201T>A (p.Pro67=) n.216T>A | |
19 | g.49061827_49061828delinsAG | CA2340217465 | NTF4 | c.170_171delinsCT (p.Pro57=) c.200_201delinsCT (p.Pro67=) n.215_216delinsCT | |
19 | g.49061828G>A | CA406807072 | NTF4 | c.170C>T (p.Pro57Leu) c.200C>T (p.Pro67Leu) n.215C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061828G>C | CA406807069 | NTF4 | c.170C>G (p.Pro57Arg) c.200C>G (p.Pro67Arg) n.215C>G | gnomAD v4 |
19 | g.49061828G= | CA2340217466 | NTF4 | c.170C= (p.Pro57=) c.200C= (p.Pro67=) n.215C= | |
19 | g.49061828G>T | CA406807071 | NTF4 | c.170C>A (p.Pro57His) c.200C>A (p.Pro67His) n.215C>A | gnomAD v4 |
19 | g.49061832del | CA2340217467 | NTF4 | c.170del (p.Pro57LeufsTer26) c.170del (p.Pro57LeufsTer?) c.200del (p.Pro67LeufsTer26) n.215del | dbSNP gnomAD v4 |
19 | g.49061829G>A | CA406807074 | NTF4 | c.169C>T (p.Pro57Ser) c.199C>T (p.Pro67Ser) n.214C>T | |
19 | g.49061829G>C | CA406807075 | NTF4 | c.169C>G (p.Pro57Ala) c.199C>G (p.Pro67Ala) n.214C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061829G= | CA2340217468 | NTF4 | c.169C= (p.Pro57=) c.199C= (p.Pro67=) n.214C= | |
19 | g.49061829G>T | CA406807076 | NTF4 | c.169C>A (p.Pro57Thr) c.199C>A (p.Pro67Thr) n.214C>A | gnomAD v4 |
19 | g.49061830G>A | CA508279234 | NTF4 | c.168C>T (p.Pro56=) c.198C>T (p.Pro66=) n.213C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061830G>C | CA508279235 | NTF4 | c.168C>G (p.Pro56=) c.198C>G (p.Pro66=) n.213C>G | |
19 | g.49061830G= | CA2340217469 | NTF4 | c.168C= (p.Pro56=) c.198C= (p.Pro66=) n.213C= | |
19 | g.49061830G>T | CA508279236 | NTF4 | c.168C>A (p.Pro56=) c.198C>A (p.Pro66=) n.213C>A | |
19 | g.49061831G>A | CA406807077 | NTF4 | c.167C>T (p.Pro56Leu) c.197C>T (p.Pro66Leu) n.212C>T | |
19 | g.49061831G>C | CA406807078 | NTF4 | c.167C>G (p.Pro56Arg) c.197C>G (p.Pro66Arg) n.212C>G | |
19 | g.49061831G>T | CA406807079 | NTF4 | c.167C>A (p.Pro56His) c.197C>A (p.Pro66His) n.212C>A | |
19 | g.49061832G>A | CA406807080 | NTF4 | c.166C>T (p.Pro56Ser) c.196C>T (p.Pro66Ser) n.211C>T | |
19 | g.49061832G>C | CA406807081 | NTF4 | c.166C>G (p.Pro56Ala) c.196C>G (p.Pro66Ala) n.211C>G | |
19 | g.49061832G>T | CA406807082 | NTF4 | c.166C>A (p.Pro56Thr) c.196C>A (p.Pro66Thr) n.211C>A | |
19 | g.49061833C>A | CA508279239 | NTF4 | c.165G>T (p.Gly55=) c.195G>T (p.Gly65=) n.210G>T | gnomAD v4 |
19 | g.49061833C>G | CA508279237 | NTF4 | c.165G>C (p.Gly55=) c.195G>C (p.Gly65=) n.210G>C | |
19 | g.49061833C>T | CA508279238 | NTF4 | c.165G>A (p.Gly55=) c.195G>A (p.Gly65=) n.210G>A | gnomAD v4 |
19 | g.49061834C>A | CA406807087 | NTF4 | c.164G>T (p.Gly55Val) c.194G>T (p.Gly65Val) n.209G>T | |
19 | g.49061834C>G | CA406807089 | NTF4 | c.164G>C (p.Gly55Ala) c.194G>C (p.Gly65Ala) n.209G>C | |
19 | g.49061834C>T | CA406807090 | NTF4 | c.164G>A (p.Gly55Glu) c.194G>A (p.Gly65Glu) n.209G>A | |
19 | g.49061835C>A | CA406807098 | NTF4 | c.163G>T (p.Gly55Trp) c.193G>T (p.Gly65Trp) n.208G>T | |
19 | g.49061835C>G | CA406807096 | NTF4 | c.163G>C (p.Gly55Arg) c.193G>C (p.Gly65Arg) n.208G>C | |
19 | g.49061835C>T | CA406807091 | NTF4 | c.163G>A (p.Gly55Arg) c.193G>A (p.Gly65Arg) n.208G>A | |
19 | g.49061836A>C | CA508279240 | NTF4 | c.162T>G (p.Ala54=) c.192T>G (p.Ala64=) n.207T>G | |
19 | g.49061836A>G | CA508279241 | NTF4 | c.162T>C (p.Ala54=) c.192T>C (p.Ala64=) n.207T>C | |
19 | g.49061836A>T | CA508279242 | NTF4 | c.162T>A (p.Ala54=) c.192T>A (p.Ala64=) n.207T>A | |
19 | g.49061837G>A | CA406807100 | NTF4 | c.161C>T (p.Ala54Val) c.191C>T (p.Ala64Val) n.206C>T | |
19 | g.49061837G>C | CA406807102 | NTF4 | c.161C>G (p.Ala54Gly) c.191C>G (p.Ala64Gly) n.206C>G | dbSNP gnomAD v4 |
19 | g.49061837G= | CA2340217470 | NTF4 | c.161C= (p.Ala54=) c.191C= (p.Ala64=) n.206C= | |
19 | g.49061837G>T | CA406807104 | NTF4 | c.161C>A (p.Ala54Asp) c.191C>A (p.Ala64Asp) n.206C>A | gnomAD v4 |
19 | g.49061838C>A | CA406807106 | NTF4 | c.160G>T (p.Ala54Ser) c.190G>T (p.Ala64Ser) n.205G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061838C= | CA2340217471 | NTF4 | c.160G= (p.Ala54=) c.190G= (p.Ala64=) n.205G= | |
19 | g.49061838C>G | CA406807108 | NTF4 | c.160G>C (p.Ala54Pro) c.190G>C (p.Ala64Pro) n.205G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061838C>T | CA406807109 | NTF4 | c.160G>A (p.Ala54Thr) c.190G>A (p.Ala64Thr) n.205G>A | ClinVar gnomAD v4 |
19 | g.49061839A>C | CA508279243 | NTF4 | c.159T>G (p.Pro53=) c.189T>G (p.Pro63=) n.204T>G | |
19 | g.49061839A>G | CA508279244 | NTF4 | c.159T>C (p.Pro53=) c.189T>C (p.Pro63=) n.204T>C | |
19 | g.49061839A>T | CA508279245 | NTF4 | c.159T>A (p.Pro53=) c.189T>A (p.Pro63=) n.204T>A | |
19 | g.49061840G>A | CA406807111 | NTF4 | c.158C>T (p.Pro53Leu) c.188C>T (p.Pro63Leu) n.203C>T | gnomAD v4 |
19 | g.49061840G>C | CA406807113 | NTF4 | c.158C>G (p.Pro53Arg) c.188C>G (p.Pro63Arg) n.203C>G | |
19 | g.49061840G>T | CA406807115 | NTF4 | c.158C>A (p.Pro53His) c.188C>A (p.Pro63His) n.203C>A | gnomAD v4 |
19 | g.49061844_49061870del | CA2586311540 | NTF4 | c.132_158del (p.Arg45_Pro53del) c.162_188del (p.Arg55_Pro63del) n.177_203del | gnomAD v4 |
19 | g.49061841G>A | CA309447006 | NTF4 | c.157C>T (p.Pro53Ser) c.187C>T (p.Pro63Ser) n.202C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061841G>C | CA406807117 | NTF4 | c.157C>G (p.Pro53Ala) c.187C>G (p.Pro63Ala) n.202C>G | |
19 | g.49061841G= | CA2340217472 | NTF4 | c.157C= (p.Pro53=) c.187C= (p.Pro63=) n.202C= | |
19 | g.49061841G>T | CA406807120 | NTF4 | c.157C>A (p.Pro53Thr) c.187C>A (p.Pro63Thr) n.202C>A | |
19 | g.49061842G>A | CA309447010 | NTF4 | c.156C>T (p.Ala52=) c.186C>T (p.Ala62=) n.201C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061842G>C | CA508279246 | NTF4 | c.156C>G (p.Ala52=) c.186C>G (p.Ala62=) n.201C>G | dbSNP |
19 | g.49061842G= | CA2340217473 | NTF4 | c.156C= (p.Ala52=) c.186C= (p.Ala62=) n.201C= | |
19 | g.49061842G>T | CA508279247 | NTF4 | c.156C>A (p.Ala52=) c.186C>A (p.Ala62=) n.201C>A | |
19 | g.49061843G>A | CA406807124 | NTF4 | c.155C>T (p.Ala52Val) c.185C>T (p.Ala62Val) n.200C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061843G>C | CA406807126 | NTF4 | c.155C>G (p.Ala52Gly) c.185C>G (p.Ala62Gly) n.200C>G | |
19 | g.49061843G= | CA2340217474 | NTF4 | c.155C= (p.Ala52=) c.185C= (p.Ala62=) n.200C= | |
19 | g.49061843G>T | CA406807122 | NTF4 | c.155C>A (p.Ala52Asp) c.185C>A (p.Ala62Asp) n.200C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061844C>A | CA406807129 | NTF4 | c.154G>T (p.Ala52Ser) c.184G>T (p.Ala62Ser) n.199G>T | gnomAD v4 |
19 | g.49061844C= | CA2340217475 | NTF4 | c.154G= (p.Ala52=) c.184G= (p.Ala62=) n.199G= | |
19 | g.49061844C>G | CA406807130 | NTF4 | c.154G>C (p.Ala52Pro) c.184G>C (p.Ala62Pro) n.199G>C | |
19 | g.49061844C>T | CA406807132 | NTF4 | c.154G>A (p.Ala52Thr) c.184G>A (p.Ala62Thr) n.199G>A | dbSNP gnomAD v4 |
19 | g.49061845A= | CA2340217476 | NTF4 | c.153T= (p.Gly51=) c.183T= (p.Gly61=) n.198T= | |
19 | g.49061845A>C | CA508279248 | NTF4 | c.153T>G (p.Gly51=) c.183T>G (p.Gly61=) n.198T>G | |
19 | g.49061845A>G | CA309447012 | NTF4 | c.153T>C (p.Gly51=) c.183T>C (p.Gly61=) n.198T>C | dbSNP gnomAD v4 |
19 | g.49061845A>T | CA508279249 | NTF4 | c.153T>A (p.Gly51=) c.183T>A (p.Gly61=) n.198T>A | |
19 | g.49061846C>A | CA406807134 | NTF4 | c.152G>T (p.Gly51Val) c.182G>T (p.Gly61Val) n.197G>T | |
19 | g.49061846C= | CA2340217477 | NTF4 | c.152G= (p.Gly51=) c.182G= (p.Gly61=) n.197G= | |
19 | g.49061846C>G | CA406807135 | NTF4 | c.152G>C (p.Gly51Ala) c.182G>C (p.Gly61Ala) n.197G>C | |
19 | g.49061846C>T | CA309447017 | NTF4 | c.152G>A (p.Gly51Asp) c.182G>A (p.Gly61Asp) n.197G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061847C>A | CA406807140 | NTF4 | c.151G>T (p.Gly51Cys) c.181G>T (p.Gly61Cys) n.196G>T | |
19 | g.49061847C= | CA2340217478 | NTF4 | c.151G= (p.Gly51=) c.181G= (p.Gly61=) n.196G= | |
19 | g.49061847C>G | CA406807144 | NTF4 | c.151G>C (p.Gly51Arg) c.181G>C (p.Gly61Arg) n.196G>C | |
19 | g.49061847C>T | CA406807142 | NTF4 | c.151G>A (p.Gly51Ser) c.181G>A (p.Gly61Ser) n.196G>A | dbSNP gnomAD v4 |
19 | g.49061848C>A | CA406807146 | NTF4 | c.150G>T (p.Arg50Ser) c.180G>T (p.Arg60Ser) n.195G>T | |
19 | g.49061848C= | CA2340217479 | NTF4 | c.150G= (p.Arg50=) c.180G= (p.Arg60=) n.195G= | |
19 | g.49061848C>G | CA406807147 | NTF4 | c.150G>C (p.Arg50Ser) c.180G>C (p.Arg60Ser) n.195G>C | gnomAD v4 |
19 | g.49061848C>T | CA508279250 | NTF4 | c.150G>A (p.Arg50=) c.180G>A (p.Arg60=) n.195G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061849C>A | CA406807149 | NTF4 | c.149G>T (p.Arg50Met) c.179G>T (p.Arg60Met) n.194G>T | |
19 | g.49061849C>G | CA406807150 | NTF4 | c.149G>C (p.Arg50Thr) c.179G>C (p.Arg60Thr) n.194G>C | |
19 | g.49061849C>T | CA406807151 | NTF4 | c.149G>A (p.Arg50Lys) c.179G>A (p.Arg60Lys) n.194G>A | |
19 | g.49061850T>A | CA406807153 | NTF4 | c.148A>T (p.Arg50Trp) c.178A>T (p.Arg60Trp) n.193A>T | |
19 | g.49061850T>C | CA406807156 | NTF4 | c.148A>G (p.Arg50Gly) c.178A>G (p.Arg60Gly) n.193A>G | |
19 | g.49061850T>G | CA508279251 | NTF4 | c.148A>C (p.Arg50=) c.178A>C (p.Arg60=) n.193A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061850T= | CA2340217480 | NTF4 | c.148A= (p.Arg50=) c.178A= (p.Arg60=) n.193A= | |
19 | g.49061851A>C | CA508279252 | NTF4 | c.147T>G (p.Ser49=) c.177T>G (p.Ser59=) n.192T>G | |
19 | g.49061851A>G | CA508279253 | NTF4 | c.147T>C (p.Ser49=) c.177T>C (p.Ser59=) n.192T>C | |
19 | g.49061851A>T | CA508279254 | NTF4 | c.147T>A (p.Ser49=) c.177T>A (p.Ser59=) n.192T>A | |
19 | g.49061852G>A | CA309447025 | NTF4 | c.146C>T (p.Ser49Phe) c.176C>T (p.Ser59Phe) n.191C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061852G>C | CA406807161 | NTF4 | c.146C>G (p.Ser49Cys) c.176C>G (p.Ser59Cys) n.191C>G | |
19 | g.49061852G= | CA2340217481 | NTF4 | c.146C= (p.Ser49=) c.176C= (p.Ser59=) n.191C= | |
19 | g.49061852G>T | CA406807159 | NTF4 | c.146C>A (p.Ser49Tyr) c.176C>A (p.Ser59Tyr) n.191C>A | |
19 | g.49061853A>C | CA406807163 | NTF4 | c.145T>G (p.Ser49Ala) c.175T>G (p.Ser59Ala) n.190T>G | |
19 | g.49061853A>G | CA406807168 | NTF4 | c.145T>C (p.Ser49Pro) c.175T>C (p.Ser59Pro) n.190T>C | gnomAD v4 |
19 | g.49061853A>T | CA406807166 | NTF4 | c.145T>A (p.Ser49Thr) c.175T>A (p.Ser59Thr) n.190T>A | |
19 | g.49061854C>A | CA508279257 | NTF4 | c.144G>T (p.Leu48=) c.174G>T (p.Leu58=) n.189G>T | gnomAD v4 |
19 | g.49061854C>G | CA508279255 | NTF4 | c.144G>C (p.Leu48=) c.174G>C (p.Leu58=) n.189G>C | |
19 | g.49061854C>T | CA508279256 | NTF4 | c.144G>A (p.Leu48=) c.174G>A (p.Leu58=) n.189G>A | |
19 | g.49061855A= | CA2340217482 | NTF4 | c.143T= (p.Leu48=) c.173T= (p.Leu58=) n.188T= | |
19 | g.49061855A>C | CA406807169 | NTF4 | c.143T>G (p.Leu48Arg) c.173T>G (p.Leu58Arg) n.188T>G | |
19 | g.49061855A>G | CA406807171 | NTF4 | c.143T>C (p.Leu48Pro) c.173T>C (p.Leu58Pro) n.188T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061855A>T | CA406807176 | NTF4 | c.143T>A (p.Leu48Gln) c.173T>A (p.Leu58Gln) n.188T>A | |
19 | g.49061856G>A | CA508279258 | NTF4 | c.142C>T (p.Leu48=) c.172C>T (p.Leu58=) n.187C>T | gnomAD v4 |
19 | g.49061856G>C | CA406807178 | NTF4 | c.142C>G (p.Leu48Val) c.172C>G (p.Leu58Val) n.187C>G | |
19 | g.49061856G>T | CA406807179 | NTF4 | c.142C>A (p.Leu48Met) c.172C>A (p.Leu58Met) n.187C>A | gnomAD v4 |
19 | g.49061857dup | CA2586311541 | NTF4 | c.142dup (p.Leu48ProfsTer3) c.172dup (p.Leu58ProfsTer3) n.187dup | gnomAD v4 |
19 | g.49061857G>A | CA508279259 | NTF4 | c.141C>T (p.Val47=) c.171C>T (p.Val57=) n.186C>T | |
19 | g.49061857G>C | CA508279260 | NTF4 | c.141C>G (p.Val47=) c.171C>G (p.Val57=) n.186C>G | |
19 | g.49061857G>T | CA508279261 | NTF4 | c.141C>A (p.Val47=) c.171C>A (p.Val57=) n.186C>A | |
19 | g.49061858A= | CA2340217483 | NTF4 | c.140T= (p.Val47=) c.170T= (p.Val57=) n.185T= | |
19 | g.49061858A>C | CA406807182 | NTF4 | c.140T>G (p.Val47Gly) c.170T>G (p.Val57Gly) n.185T>G | |
19 | g.49061858A>G | CA406807184 | NTF4 | c.140T>C (p.Val47Ala) c.170T>C (p.Val57Ala) n.185T>C | gnomAD v4 |
19 | g.49061858A>T | CA406807185 | NTF4 | c.140T>A (p.Val47Asp) c.170T>A (p.Val57Asp) n.185T>A | dbSNP gnomAD v2 |
19 | g.49061859C>A | CA406807188 | NTF4 | c.139G>T (p.Val47Phe) c.169G>T (p.Val57Phe) n.184G>T | |
19 | g.49061859C>G | CA406807189 | NTF4 | c.139G>C (p.Val47Leu) c.169G>C (p.Val57Leu) n.184G>C | |
19 | g.49061859C>T | CA406807190 | NTF4 | c.139G>A (p.Val47Ile) c.169G>A (p.Val57Ile) n.184G>A |