Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13135250A>C | CA404323989 | NACC1 | c.43A>C (p.Ser15Arg) | |
19 | g.13135250A>G | CA404323990 | NACC1 | c.43A>G (p.Ser15Gly) | |
19 | g.13135250A>T | CA404323992 | NACC1 | c.43A>T (p.Ser15Cys) | |
19 | g.13135251G>A | CA404323994 | NACC1 | c.44G>A (p.Ser15Asn) | ClinVar dbSNP |
19 | g.13135251G>C | CA404323996 | NACC1 | c.44G>C (p.Ser15Thr) | |
19 | g.13135251G= | CA2323741371 | NACC1 | c.44G= (p.Ser15=) | |
19 | g.13135251G>T | CA404323998 | NACC1 | c.44G>T (p.Ser15Ile) | |
19 | g.13135252C>A | CA404324002 | NACC1 | c.45C>A (p.Ser15Arg) | |
19 | g.13135252C= | CA2323741375 | NACC1 | c.45C= (p.Ser15=) | |
19 | g.13135252C>G | CA404324003 | NACC1 | c.45C>G (p.Ser15Arg) | |
19 | g.13135252C>T | CA505782433 | NACC1 | c.45C>T (p.Ser15=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135253A>C | CA404324005 | NACC1 | c.46A>C (p.Ile16Leu) | |
19 | g.13135253A>G | CA404324006 | NACC1 | c.46A>G (p.Ile16Val) | |
19 | g.13135253A>T | CA404324008 | NACC1 | c.46A>T (p.Ile16Phe) | |
19 | g.13135254T>A | CA404324009 | NACC1 | c.47T>A (p.Ile16Asn) | |
19 | g.13135254T>C | CA404324011 | NACC1 | c.47T>C (p.Ile16Thr) | |
19 | g.13135254T>G | CA404324013 | NACC1 | c.47T>G (p.Ile16Ser) | |
19 | g.13135255C>A | CA505782438 | NACC1 | c.48C>A (p.Ile16=) | dbSNP |
19 | g.13135255C= | CA2323741377 | NACC1 | c.48C= (p.Ile16=) | |
19 | g.13135255C>G | CA404324014 | NACC1 | c.48C>G (p.Ile16Met) | |
19 | g.13135255C>T | CA9238214 | NACC1 | c.48C>T (p.Ile16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135256C>A | CA404324018 | NACC1 | c.49C>A (p.Leu17Met) | |
19 | g.13135256C>G | CA404324020 | NACC1 | c.49C>G (p.Leu17Val) | |
19 | g.13135256C>T | CA505782440 | NACC1 | c.49C>T (p.Leu17=) | |
19 | g.13135257T>A | CA404324023 | NACC1 | c.50T>A (p.Leu17Gln) | |
19 | g.13135257T>C | CA404324025 | NACC1 | c.50T>C (p.Leu17Pro) | |
19 | g.13135257T>G | CA404324022 | NACC1 | c.50T>G (p.Leu17Arg) | |
19 | g.13135258G>A | CA505782442 | NACC1 | c.51G>A (p.Leu17=) | |
19 | g.13135258G>C | CA505782443 | NACC1 | c.51G>C (p.Leu17=) | |
19 | g.13135258G>T | CA505782445 | NACC1 | c.51G>T (p.Leu17=) | |
19 | g.13135259G>A | CA404324027 | NACC1 | c.52G>A (p.Glu18Lys) | |
19 | g.13135259G>C | CA404324029 | NACC1 | c.52G>C (p.Glu18Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135259G= | CA2323741380 | NACC1 | c.52G= (p.Glu18=) | |
19 | g.13135259G>T | CA404324031 | NACC1 | c.52G>T (p.Glu18Ter) | |
19 | g.13135260A>C | CA404324032 | NACC1 | c.53A>C (p.Glu18Ala) | |
19 | g.13135260A>G | CA404324033 | NACC1 | c.53A>G (p.Glu18Gly) | |
19 | g.13135260A>T | CA404324035 | NACC1 | c.53A>T (p.Glu18Val) | |
19 | g.13135261G>A | CA505782450 | NACC1 | c.54G>A (p.Glu18=) | |
19 | g.13135261G>C | CA404324036 | NACC1 | c.54G>C (p.Glu18Asp) | |
19 | g.13135261G>T | CA404324038 | NACC1 | c.54G>T (p.Glu18Asp) | ClinVar |
19 | g.13135262T>A | CA404324040 | NACC1 | c.55T>A (p.Cys19Ser) | |
19 | g.13135262T>C | CA404324042 | NACC1 | c.55T>C (p.Cys19Arg) | gnomAD v4 |
19 | g.13135262T>G | CA404324044 | NACC1 | c.55T>G (p.Cys19Gly) | |
19 | g.13135263G>A | CA404324049 | NACC1 | c.56G>A (p.Cys19Tyr) | |
19 | g.13135263G>C | CA404324050 | NACC1 | c.56G>C (p.Cys19Ser) | |
19 | g.13135263G>T | CA404324046 | NACC1 | c.56G>T (p.Cys19Phe) | |
19 | g.13135267_13135290dup | CA2582801201 | NACC1 | c.60_83dup (p.Leu28_Tyr29insAsnGluGlnArgLeuGlnGlyLeu) | gnomAD v4 |
19 | g.13135264C>A | CA404324053 | NACC1 | c.57C>A (p.Cys19Ter) | |
19 | g.13135264C>G | CA404324055 | NACC1 | c.57C>G (p.Cys19Trp) | |
19 | g.13135264C>T | CA505782456 | NACC1 | c.57C>T (p.Cys19=) | |
19 | g.13135265dup | CA2838355797 | NACC1 | c.58dup (p.Leu20ProfsTer3) | |
19 | g.13135265C>A | CA404324058 | NACC1 | c.58C>A (p.Leu20Ile) | |
19 | g.13135265C>G | CA404324060 | NACC1 | c.58C>G (p.Leu20Val) | |
19 | g.13135265C>T | CA404324062 | NACC1 | c.58C>T (p.Leu20Phe) | |
19 | g.13135266T>A | CA404324067 | NACC1 | c.59T>A (p.Leu20His) | |
19 | g.13135266T>C | CA404324064 | NACC1 | c.59T>C (p.Leu20Pro) | |
19 | g.13135266T>G | CA404324066 | NACC1 | c.59T>G (p.Leu20Arg) | |
19 | g.13135267C>A | CA505782459 | NACC1 | c.60C>A (p.Leu20=) | |
19 | g.13135267C= | CA2323741383 | NACC1 | c.60C= (p.Leu20=) | |
19 | g.13135267C>G | CA505782460 | NACC1 | c.60C>G (p.Leu20=) | gnomAD v4 |
19 | g.13135267C>T | CA505782462 | NACC1 | c.60C>T (p.Leu20=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135268A>C | CA404324069 | NACC1 | c.61A>C (p.Asn21His) | |
19 | g.13135268A>G | CA404324071 | NACC1 | c.61A>G (p.Asn21Asp) | |
19 | g.13135268A>T | CA404324073 | NACC1 | c.61A>T (p.Asn21Tyr) | |
19 | g.13135269A>C | CA404324075 | NACC1 | c.62A>C (p.Asn21Thr) | |
19 | g.13135269A>G | CA404324077 | NACC1 | c.62A>G (p.Asn21Ser) | gnomAD v4 |
19 | g.13135269A>T | CA404324079 | NACC1 | c.62A>T (p.Asn21Ile) | |
19 | g.13135270T>A | CA404324084 | NACC1 | c.63T>A (p.Asn21Lys) | |
19 | g.13135270T>C | CA9238215 | NACC1 | c.63T>C (p.Asn21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135270T>G | CA404324081 | NACC1 | c.63T>G (p.Asn21Lys) | |
19 | g.13135270T= | CA2323741384 | NACC1 | c.63T= (p.Asn21=) | |
19 | g.13135271G>A | CA404324091 | NACC1 | c.64G>A (p.Glu22Lys) | |
19 | g.13135271G>C | CA404324088 | NACC1 | c.64G>C (p.Glu22Gln) | |
19 | g.13135271G>T | CA404324090 | NACC1 | c.64G>T (p.Glu22Ter) | |
19 | g.13135272A= | CA2323741388 | NACC1 | c.65A= (p.Glu22=) | |
19 | g.13135272A>C | CA404324095 | NACC1 | c.65A>C (p.Glu22Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135272A>G | CA404324096 | NACC1 | c.65A>G (p.Glu22Gly) | |
19 | g.13135272A>T | CA404324098 | NACC1 | c.65A>T (p.Glu22Val) | |
19 | g.13135272_13135273del | CA2576641108 | NACC1 | c.65_66del (p.Glu22AlafsTer9) | |
19 | g.13135273A>C | CA404324101 | NACC1 | c.66A>C (p.Glu22Asp) | |
19 | g.13135273A>G | CA505782469 | NACC1 | c.66A>G (p.Glu22=) | gnomAD v4 |
19 | g.13135273A>T | CA404324103 | NACC1 | c.66A>T (p.Glu22Asp) | |
19 | g.13135274C>A | CA404324105 | NACC1 | c.67C>A (p.Gln23Lys) | |
19 | g.13135274C>G | CA404324107 | NACC1 | c.67C>G (p.Gln23Glu) | |
19 | g.13135274C>T | CA404324109 | NACC1 | c.67C>T (p.Gln23Ter) | |
19 | g.13135275A>C | CA404324111 | NACC1 | c.68A>C (p.Gln23Pro) | |
19 | g.13135275A>G | CA404324113 | NACC1 | c.68A>G (p.Gln23Arg) | gnomAD v4 |
19 | g.13135275A>T | CA404324115 | NACC1 | c.68A>T (p.Gln23Leu) | |
19 | g.13135276G>A | CA505782473 | NACC1 | c.69G>A (p.Gln23=) | |
19 | g.13135276G>C | CA404324120 | NACC1 | c.69G>C (p.Gln23His) | |
19 | g.13135276G>T | CA404324117 | NACC1 | c.69G>T (p.Gln23His) | |
19 | g.13135277C>A | CA505782474 | NACC1 | c.70C>A (p.Arg24=) | gnomAD v4 |
19 | g.13135277C>G | CA404324122 | NACC1 | c.70C>G (p.Arg24Gly) | |
19 | g.13135277C>T | CA404324123 | NACC1 | c.70C>T (p.Arg24Trp) | COSMIC |
19 | g.13135277_13135278insCTG | CA2576641109 | NACC1 | c.70_71insCTG (p.Arg24delinsProGly) | |
19 | g.13135278G>A | CA404324127 | NACC1 | c.71G>A (p.Arg24Gln) | ClinVar COSMIC |
19 | g.13135278G>C | CA404324128 | NACC1 | c.71G>C (p.Arg24Pro) | |
19 | g.13135278G>T | CA404324129 | NACC1 | c.71G>T (p.Arg24Leu) | |
19 | g.13135279G>A | CA505782481 | NACC1 | c.72G>A (p.Arg24=) | |
19 | g.13135279G>C | CA505782479 | NACC1 | c.72G>C (p.Arg24=) | |
19 | g.13135279G>T | CA505782480 | NACC1 | c.72G>T (p.Arg24=) | |
19 | g.13135280C>A | CA404324132 | NACC1 | c.73C>A (p.Leu25Met) | |
19 | g.13135280C>G | CA404324133 | NACC1 | c.73C>G (p.Leu25Val) | |
19 | g.13135280C>T | CA505782483 | NACC1 | c.73C>T (p.Leu25=) | |
19 | g.13135281T>A | CA404324135 | NACC1 | c.74T>A (p.Leu25Gln) | |
19 | g.13135281T>C | CA404324138 | NACC1 | c.74T>C (p.Leu25Pro) | |
19 | g.13135281T>G | CA404324140 | NACC1 | c.74T>G (p.Leu25Arg) | |
19 | g.13135282G>A | CA505782485 | NACC1 | c.75G>A (p.Leu25=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135282G>C | CA505782487 | NACC1 | c.75G>C (p.Leu25=) | |
19 | g.13135282G= | CA2323741390 | NACC1 | c.75G= (p.Leu25=) | |
19 | g.13135282G>T | CA505782488 | NACC1 | c.75G>T (p.Leu25=) | |
19 | g.13135283C>A | CA404324141 | NACC1 | c.76C>A (p.Gln26Lys) | |
19 | g.13135283C>G | CA404324143 | NACC1 | c.76C>G (p.Gln26Glu) | |
19 | g.13135283C>T | CA404324145 | NACC1 | c.76C>T (p.Gln26Ter) | |
19 | g.13135284A>C | CA404324150 | NACC1 | c.77A>C (p.Gln26Pro) | |
19 | g.13135284A>G | CA404324149 | NACC1 | c.77A>G (p.Gln26Arg) | |
19 | g.13135284A>T | CA404324147 | NACC1 | c.77A>T (p.Gln26Leu) | |
19 | g.13135285G>A | CA305552622 | NACC1 | c.78G>A (p.Gln26=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135285G>C | CA404324154 | NACC1 | c.78G>C (p.Gln26His) | |
19 | g.13135285G= | CA2323741392 | NACC1 | c.78G= (p.Gln26=) | |
19 | g.13135285G>T | CA404324155 | NACC1 | c.78G>T (p.Gln26His) | |
19 | g.13135286G>A | CA404324157 | NACC1 | c.79G>A (p.Gly27Ser) | |
19 | g.13135286G>C | CA404324158 | NACC1 | c.79G>C (p.Gly27Arg) | |
19 | g.13135286G>T | CA404324159 | NACC1 | c.79G>T (p.Gly27Cys) | |
19 | g.13135287G>A | CA404324162 | NACC1 | c.80G>A (p.Gly27Asp) | |
19 | g.13135287G>C | CA404324164 | NACC1 | c.80G>C (p.Gly27Ala) | |
19 | g.13135287G>T | CA404324166 | NACC1 | c.80G>T (p.Gly27Val) | |
19 | g.13135288C>A | CA505782493 | NACC1 | c.81C>A (p.Gly27=) | |
19 | g.13135288C>G | CA505782494 | NACC1 | c.81C>G (p.Gly27=) | |
19 | g.13135288C>T | CA505782495 | NACC1 | c.81C>T (p.Gly27=) | gnomAD v4 |
19 | g.13135289C>A | CA404324169 | NACC1 | c.82C>A (p.Leu28Met) | |
19 | g.13135289C>G | CA404324170 | NACC1 | c.82C>G (p.Leu28Val) | |
19 | g.13135289C>T | CA505782497 | NACC1 | c.82C>T (p.Leu28=) | |
19 | g.13135290T>A | CA404324172 | NACC1 | c.83T>A (p.Leu28Gln) | |
19 | g.13135290T>C | CA404324174 | NACC1 | c.83T>C (p.Leu28Pro) | |
19 | g.13135290T>G | CA404324175 | NACC1 | c.83T>G (p.Leu28Arg) | |
19 | g.13135291G>A | CA505782498 | NACC1 | c.84G>A (p.Leu28=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135291G>C | CA505782499 | NACC1 | c.84G>C (p.Leu28=) | |
19 | g.13135291G= | CA2323741395 | NACC1 | c.84G= (p.Leu28=) | |
19 | g.13135291G>T | CA505782500 | NACC1 | c.84G>T (p.Leu28=) | |
19 | g.13135292T>A | CA404324180 | NACC1 | c.85T>A (p.Tyr29Asn) | |
19 | g.13135292T>C | CA404324182 | NACC1 | c.85T>C (p.Tyr29His) | |
19 | g.13135292T>G | CA404324176 | NACC1 | c.85T>G (p.Tyr29Asp) | |
19 | g.13135293A>C | CA404324184 | NACC1 | c.86A>C (p.Tyr29Ser) | |
19 | g.13135293A>G | CA404324186 | NACC1 | c.86A>G (p.Tyr29Cys) | ClinVar dbSNP |
19 | g.13135293A>T | CA404324187 | NACC1 | c.86A>T (p.Tyr29Phe) | COSMIC |
19 | g.13135294C>A | CA404324188 | NACC1 | c.87C>A (p.Tyr29Ter) | |
19 | g.13135294C= | CA2323741396 | NACC1 | c.87C= (p.Tyr29=) | |
19 | g.13135294C>G | CA404324189 | NACC1 | c.87C>G (p.Tyr29Ter) | |
19 | g.13135294C>T | CA505782503 | NACC1 | c.87C>T (p.Tyr29=) | ClinVar dbSNP gnomAD v4 |
19 | g.13135295T>A | CA404324194 | NACC1 | c.88T>A (p.Cys30Ser) | |
19 | g.13135295T>C | CA404324190 | NACC1 | c.88T>C (p.Cys30Arg) | gnomAD v4 |
19 | g.13135295T>G | CA404324192 | NACC1 | c.88T>G (p.Cys30Gly) | |
19 | g.13135296G>A | CA404324197 | NACC1 | c.89G>A (p.Cys30Tyr) | |
19 | g.13135296G>C | CA404324199 | NACC1 | c.89G>C (p.Cys30Ser) | |
19 | g.13135296G>T | CA404324203 | NACC1 | c.89G>T (p.Cys30Phe) | |
19 | g.13135297T>A | CA404324205 | NACC1 | c.90T>A (p.Cys30Ter) | |
19 | g.13135297T>C | CA505782507 | NACC1 | c.90T>C (p.Cys30=) | |
19 | g.13135297T>G | CA404324206 | NACC1 | c.90T>G (p.Cys30Trp) | |
19 | g.13135298G>A | CA404324208 | NACC1 | c.91G>A (p.Asp31Asn) | |
19 | g.13135298G>C | CA404324212 | NACC1 | c.91G>C (p.Asp31His) | |
19 | g.13135298G>T | CA404324210 | NACC1 | c.91G>T (p.Asp31Tyr) | |
19 | g.13135299A>C | CA404324214 | NACC1 | c.92A>C (p.Asp31Ala) | |
19 | g.13135299A>G | CA404324218 | NACC1 | c.92A>G (p.Asp31Gly) | |
19 | g.13135299A>T | CA404324216 | NACC1 | c.92A>T (p.Asp31Val) | |
19 | g.13135300C>A | CA404324219 | NACC1 | c.93C>A (p.Asp31Glu) | |
19 | g.13135300C= | CA2323741398 | NACC1 | c.93C= (p.Asp31=) | |
19 | g.13135300C>G | CA404324220 | NACC1 | c.93C>G (p.Asp31Glu) | |
19 | g.13135300C>T | CA9238216 | NACC1 | c.93C>T (p.Asp31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.13135301G>A | CA404324223 | NACC1 | c.94G>A (p.Val32Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135301G>C | CA404324225 | NACC1 | c.94G>C (p.Val32Leu) | |
19 | g.13135301G= | CA2323741400 | NACC1 | c.94G= (p.Val32=) | |
19 | g.13135301G>T | CA404324224 | NACC1 | c.94G>T (p.Val32Leu) | |
19 | g.13135302T>A | CA404324227 | NACC1 | c.95T>A (p.Val32Glu) | |
19 | g.13135302T>C | CA404324231 | NACC1 | c.95T>C (p.Val32Ala) | |
19 | g.13135302T>G | CA404324229 | NACC1 | c.95T>G (p.Val32Gly) | |
19 | g.13135303G>A | CA505782512 | NACC1 | c.96G>A (p.Val32=) | |
19 | g.13135303G>C | CA505782513 | NACC1 | c.96G>C (p.Val32=) | |
19 | g.13135303G>T | CA505782517 | NACC1 | c.96G>T (p.Val32=) | |
19 | g.13135304T>A | CA404324232 | NACC1 | c.97T>A (p.Ser33Thr) | |
19 | g.13135304T>C | CA404324236 | NACC1 | c.97T>C (p.Ser33Pro) | |
19 | g.13135304T>G | CA404324234 | NACC1 | c.97T>G (p.Ser33Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135304T= | CA2323741403 | NACC1 | c.97T= (p.Ser33=) | |
19 | g.13135305C>A | CA404324237 | NACC1 | c.98C>A (p.Ser33Ter) | |
19 | g.13135305C>G | CA404324239 | NACC1 | c.98C>G (p.Ser33Ter) | |
19 | g.13135305C>T | CA404324238 | NACC1 | c.98C>T (p.Ser33Leu) | |
19 | g.13135306A= | CA2323741404 | NACC1 | c.99A= (p.Ser33=) | |
19 | g.13135306A>C | CA505782519 | NACC1 | c.99A>C (p.Ser33=) | |
19 | g.13135306A>G | CA9238217 | NACC1 | c.99A>G (p.Ser33=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135306A>T | CA505782520 | NACC1 | c.99A>T (p.Ser33=) | |
19 | g.13135306_13135308del | CA2573156012 | NACC1 | c.99_101del (p.Val34del) | ClinVar dbSNP |
19 | g.13135307G>A | CA404324241 | NACC1 | c.100G>A (p.Val34Met) | |
19 | g.13135307G>C | CA404324243 | NACC1 | c.100G>C (p.Val34Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135307G= | CA2323741405 | NACC1 | c.100G= (p.Val34=) | |
19 | g.13135307G>T | CA404324245 | NACC1 | c.100G>T (p.Val34Leu) | |
19 | g.13135308T>A | CA404324247 | NACC1 | c.101T>A (p.Val34Glu) | |
19 | g.13135308T>C | CA404324249 | NACC1 | c.101T>C (p.Val34Ala) | |
19 | g.13135308T>G | CA404324250 | NACC1 | c.101T>G (p.Val34Gly) | |
19 | g.13135309G>A | CA505782526 | NACC1 | c.102G>A (p.Val34=) | ClinVar dbSNP |
19 | g.13135309G>C | CA505782527 | NACC1 | c.102G>C (p.Val34=) | |
19 | g.13135309G>T | CA505782528 | NACC1 | c.102G>T (p.Val34=) | |
19 | g.13135310G>A | CA404324252 | NACC1 | c.103G>A (p.Val35Met) | |
19 | g.13135310G>C | CA404324254 | NACC1 | c.103G>C (p.Val35Leu) | |
19 | g.13135310G>T | CA404324255 | NACC1 | c.103G>T (p.Val35Leu) | |
19 | g.13135311T>A | CA404324260 | NACC1 | c.104T>A (p.Val35Glu) | |
19 | g.13135311T>C | CA404324259 | NACC1 | c.104T>C (p.Val35Ala) | |
19 | g.13135311T>G | CA404324257 | NACC1 | c.104T>G (p.Val35Gly) | |
19 | g.13135312G>A | CA505782533 | NACC1 | c.105G>A (p.Val35=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135312G>C | CA505782534 | NACC1 | c.105G>C (p.Val35=) | |
19 | g.13135312G= | CA2323741406 | NACC1 | c.105G= (p.Val35=) | |
19 | g.13135312G>T | CA505782536 | NACC1 | c.105G>T (p.Val35=) | |
19 | g.13135313G>A | CA404324261 | NACC1 | c.106G>A (p.Val36Ile) | |
19 | g.13135313G>C | CA404324262 | NACC1 | c.106G>C (p.Val36Leu) | |
19 | g.13135313G>T | CA404324263 | NACC1 | c.106G>T (p.Val36Phe) | |
19 | g.13135314T>A | CA404324265 | NACC1 | c.107T>A (p.Val36Asp) | |
19 | g.13135314T>C | CA404324266 | NACC1 | c.107T>C (p.Val36Ala) | |
19 | g.13135314T>G | CA404324267 | NACC1 | c.107T>G (p.Val36Gly) | |
19 | g.13135315C>A | CA505782541 | NACC1 | c.108C>A (p.Val36=) | gnomAD v4 |
19 | g.13135315C>G | CA505782542 | NACC1 | c.108C>G (p.Val36=) | |
19 | g.13135315C>T | CA505782544 | NACC1 | c.108C>T (p.Val36=) | gnomAD v4 |
19 | g.13135316A= | CA2323741408 | NACC1 | c.109A= (p.Lys37=) | |
19 | g.13135316A>C | CA404324269 | NACC1 | c.109A>C (p.Lys37Gln) | |
19 | g.13135316A>G | CA9238218 | NACC1 | c.109A>G (p.Lys37Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135316A>T | CA404324271 | NACC1 | c.109A>T (p.Lys37Ter) | |
19 | g.13135317A>C | CA404324272 | NACC1 | c.110A>C (p.Lys37Thr) | |
19 | g.13135317A>G | CA404324274 | NACC1 | c.110A>G (p.Lys37Arg) | gnomAD v4 |
19 | g.13135317A>T | CA404324275 | NACC1 | c.110A>T (p.Lys37Met) | |
19 | g.13135318G>A | CA505782548 | NACC1 | c.111G>A (p.Lys37=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135318G>C | CA404324277 | NACC1 | c.111G>C (p.Lys37Asn) | |
19 | g.13135318G= | CA2323741411 | NACC1 | c.111G= (p.Lys37=) | |
19 | g.13135318G>T | CA404324279 | NACC1 | c.111G>T (p.Lys37Asn) | |
19 | g.13135319G>A | CA404324281 | NACC1 | c.112G>A (p.Gly38Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135319G>C | CA404324282 | NACC1 | c.112G>C (p.Gly38Arg) | |
19 | g.13135319G= | CA2323741414 | NACC1 | c.112G= (p.Gly38=) | |
19 | g.13135319G>T | CA404324284 | NACC1 | c.112G>T (p.Gly38Cys) | |
19 | g.13135320G>A | CA404324286 | NACC1 | c.113G>A (p.Gly38Asp) | gnomAD v4 |
19 | g.13135320G>C | CA404324288 | NACC1 | c.113G>C (p.Gly38Ala) | |
19 | g.13135320G>T | CA404324289 | NACC1 | c.113G>T (p.Gly38Val) | |
19 | g.13135321C>A | CA505782552 | NACC1 | c.114C>A (p.Gly38=) | |
19 | g.13135321C>G | CA505782553 | NACC1 | c.114C>G (p.Gly38=) | |
19 | g.13135321C>T | CA505782554 | NACC1 | c.114C>T (p.Gly38=) | |
19 | g.13135322C>A | CA404324291 | NACC1 | c.115C>A (p.His39Asn) | |
19 | g.13135322C>G | CA404324293 | NACC1 | c.115C>G (p.His39Asp) | |
19 | g.13135322C>T | CA404324294 | NACC1 | c.115C>T (p.His39Tyr) | |
19 | g.13135323A>C | CA404324298 | NACC1 | c.116A>C (p.His39Pro) | |
19 | g.13135323A>G | CA404324299 | NACC1 | c.116A>G (p.His39Arg) | |
19 | g.13135323A>T | CA404324301 | NACC1 | c.116A>T (p.His39Leu) | |
19 | g.13135324T>A | CA404324304 | NACC1 | c.117T>A (p.His39Gln) | |
19 | g.13135324T>C | CA505782559 | NACC1 | c.117T>C (p.His39=) | dbSNP gnomAD v4 |
19 | g.13135324T>G | CA404324302 | NACC1 | c.117T>G (p.His39Gln) | |
19 | g.13135324T= | CA2323741416 | NACC1 | c.117T= (p.His39=) | |
19 | g.13135325G>A | CA404324306 | NACC1 | c.118G>A (p.Ala40Thr) | |
19 | g.13135325G>C | CA404324307 | NACC1 | c.118G>C (p.Ala40Pro) | |
19 | g.13135325G>T | CA404324309 | NACC1 | c.118G>T (p.Ala40Ser) | |
19 | g.13135326C>A | CA404324311 | NACC1 | c.119C>A (p.Ala40Asp) | |
19 | g.13135326C>G | CA404324312 | NACC1 | c.119C>G (p.Ala40Gly) | gnomAD v4 |
19 | g.13135326C>T | CA404324314 | NACC1 | c.119C>T (p.Ala40Val) | ClinVar dbSNP COSMIC |
19 | g.13135327C>A | CA505782567 | NACC1 | c.120C>A (p.Ala40=) | |
19 | g.13135327C>G | CA505782568 | NACC1 | c.120C>G (p.Ala40=) | |
19 | g.13135327C>T | CA505782564 | NACC1 | c.120C>T (p.Ala40=) | |
19 | g.13135328T>A | CA404324316 | NACC1 | c.121T>A (p.Phe41Ile) | |
19 | g.13135328T>C | CA404324318 | NACC1 | c.121T>C (p.Phe41Leu) | |
19 | g.13135328T>G | CA404324319 | NACC1 | c.121T>G (p.Phe41Val) | |
19 | g.13135329T>A | CA404324321 | NACC1 | c.122T>A (p.Phe41Tyr) | |
19 | g.13135329T>C | CA404324325 | NACC1 | c.122T>C (p.Phe41Ser) | |
19 | g.13135329T>G | CA404324326 | NACC1 | c.122T>G (p.Phe41Cys) | |
19 | g.13135330C>A | CA404324328 | NACC1 | c.123C>A (p.Phe41Leu) | |
19 | g.13135330C>G | CA404324327 | NACC1 | c.123C>G (p.Phe41Leu) | |
19 | g.13135330C>T | CA505782569 | NACC1 | c.123C>T (p.Phe41=) | |
19 | g.13135331A>C | CA404324329 | NACC1 | c.124A>C (p.Lys42Gln) | |
19 | g.13135331A>G | CA404324331 | NACC1 | c.124A>G (p.Lys42Glu) | |
19 | g.13135331A>T | CA404324330 | NACC1 | c.124A>T (p.Lys42Ter) | |
19 | g.13135331_13135332insGGTGAAACCGCATCTCTACTACAAGTACAAAAATTAGCCGGACATGGTGGCACACGCCTGT | CA2582801202 | NACC1 | c.124_125insGGTGAAACCGCATCTCTACTACAAGTACAAAAATTAGCCGGACATGGTGGCACACGCCTGT (p.Lys42ArgfsTer2) | gnomAD v4 |
19 | g.13135332A>C | CA404324332 | NACC1 | c.125A>C (p.Lys42Thr) | |
19 | g.13135332A>G | CA404324333 | NACC1 | c.125A>G (p.Lys42Arg) | ClinVar dbSNP |
19 | g.13135332A>T | CA404324335 | NACC1 | c.125A>T (p.Lys42Met) | |
19 | g.13135333G>A | CA505782570 | NACC1 | c.126G>A (p.Lys42=) | dbSNP |
19 | g.13135333G>C | CA404324337 | NACC1 | c.126G>C (p.Lys42Asn) | |
19 | g.13135333G= | CA2323741417 | NACC1 | c.126G= (p.Lys42=) | |
19 | g.13135333G>T | CA404324338 | NACC1 | c.126G>T (p.Lys42Asn) | |
19 | g.13135334G>A | CA404324341 | NACC1 | c.127G>A (p.Ala43Thr) | |
19 | g.13135334G>C | CA404324342 | NACC1 | c.127G>C (p.Ala43Pro) | |
19 | g.13135334G>T | CA404324343 | NACC1 | c.127G>T (p.Ala43Ser) | |
19 | g.13135335C>A | CA404324344 | NACC1 | c.128C>A (p.Ala43Asp) | |
19 | g.13135335C>G | CA404324346 | NACC1 | c.128C>G (p.Ala43Gly) | |
19 | g.13135335C>T | CA404324348 | NACC1 | c.128C>T (p.Ala43Val) | |
19 | g.13135336C>A | CA505782573 | NACC1 | c.129C>A (p.Ala43=) | |
19 | g.13135336C>G | CA505782574 | NACC1 | c.129C>G (p.Ala43=) | |
19 | g.13135336C>T | CA505782576 | NACC1 | c.129C>T (p.Ala43=) | |
19 | g.13135337C>A | CA404324354 | NACC1 | c.130C>A (p.His44Asn) | |
19 | g.13135337C>G | CA404324352 | NACC1 | c.130C>G (p.His44Asp) | |
19 | g.13135337C>T | CA404324350 | NACC1 | c.130C>T (p.His44Tyr) | |
19 | g.13135338A= | CA2323741418 | NACC1 | c.131A= (p.His44=) | |
19 | g.13135338A>C | CA404324355 | NACC1 | c.131A>C (p.His44Pro) | dbSNP |
19 | g.13135338A>G | CA404324356 | NACC1 | c.131A>G (p.His44Arg) | |
19 | g.13135338A>T | CA404324358 | NACC1 | c.131A>T (p.His44Leu) | |
19 | g.13135339C>A | CA404324360 | NACC1 | c.132C>A (p.His44Gln) | |
19 | g.13135339C= | CA2323741419 | NACC1 | c.132C= (p.His44=) | |
19 | g.13135339C>G | CA404324362 | NACC1 | c.132C>G (p.His44Gln) | |
19 | g.13135339C>T | CA9238219 | NACC1 | c.132C>T (p.His44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135340C>A | CA505782584 | NACC1 | c.133C>A (p.Arg45=) | ClinVar gnomAD v4 |
19 | g.13135340C= | CA2323741421 | NACC1 | c.133C= (p.Arg45=) | |
19 | g.13135340C>G | CA404324364 | NACC1 | c.133C>G (p.Arg45Gly) | |
19 | g.13135340C>T | CA404324366 | NACC1 | c.133C>T (p.Arg45Trp) | ClinVar dbSNP gnomAD v4 |
19 | g.13135341G>A | CA404324368 | NACC1 | c.134G>A (p.Arg45Gln) | ClinVar gnomAD v4 COSMIC |
19 | g.13135341G>C | CA404324369 | NACC1 | c.134G>C (p.Arg45Pro) | |
19 | g.13135341G>T | CA404324370 | NACC1 | c.134G>T (p.Arg45Leu) | |
19 | g.13135342G>A | CA9238220 | NACC1 | c.135G>A (p.Arg45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135342G>C | CA505782588 | NACC1 | c.135G>C (p.Arg45=) | dbSNP gnomAD v4 |
19 | g.13135342G= | CA2323741423 | NACC1 | c.135G= (p.Arg45=) | |
19 | g.13135342G>T | CA505782589 | NACC1 | c.135G>T (p.Arg45=) | |
19 | g.13135343G>A | CA404324376 | NACC1 | c.136G>A (p.Ala46Thr) | |
19 | g.13135343G>C | CA404324374 | NACC1 | c.136G>C (p.Ala46Pro) | ClinVar |
19 | g.13135343G>T | CA404324372 | NACC1 | c.136G>T (p.Ala46Ser) | |
19 | g.13135349_13135405del | CA2573156013 | NACC1 | c.142_198del (p.Leu48_Val66del) | ClinVar dbSNP gnomAD v4 |
19 | g.13135344C>A | CA404324378 | NACC1 | c.137C>A (p.Ala46Asp) | |
19 | g.13135344C>G | CA404324379 | NACC1 | c.137C>G (p.Ala46Gly) | |
19 | g.13135344C>T | CA404324381 | NACC1 | c.137C>T (p.Ala46Val) | |
19 | g.13135345C>A | CA9238221 | NACC1 | c.138C>A (p.Ala46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135345C= | CA2323741425 | NACC1 | c.138C= (p.Ala46=) | |
19 | g.13135345C>G | CA505782591 | NACC1 | c.138C>G (p.Ala46=) | |
19 | g.13135345C>T | CA305552654 | NACC1 | c.138C>T (p.Ala46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135346G>A | CA404324388 | NACC1 | c.139G>A (p.Val47Met) | |
19 | g.13135346G>C | CA404324387 | NACC1 | c.139G>C (p.Val47Leu) | gnomAD v4 |
19 | g.13135346G>T | CA404324385 | NACC1 | c.139G>T (p.Val47Leu) | |
19 | g.13135347T>A | CA404324390 | NACC1 | c.140T>A (p.Val47Glu) | |
19 | g.13135347T>C | CA404324392 | NACC1 | c.140T>C (p.Val47Ala) | |
19 | g.13135347T>G | CA404324394 | NACC1 | c.140T>G (p.Val47Gly) | |
19 | g.13135348del | CA2501865407 | NACC1 | c.141del (p.Ala49LeufsTer?) | |
19 | g.13135348G>A | CA505782595 | NACC1 | c.141G>A (p.Val47=) | |
19 | g.13135348G>C | CA505782596 | NACC1 | c.141G>C (p.Val47=) | |
19 | g.13135348G>T | CA505782593 | NACC1 | c.141G>T (p.Val47=) | |
19 | g.13135349C>A | CA404324396 | NACC1 | c.142C>A (p.Leu48Ile) | |
19 | g.13135349C>G | CA404324398 | NACC1 | c.142C>G (p.Leu48Val) | |
19 | g.13135349C>T | CA404324399 | NACC1 | c.142C>T (p.Leu48Phe) | |
19 | g.13135350T>A | CA404324401 | NACC1 | c.143T>A (p.Leu48His) | |
19 | g.13135350T>C | CA404324404 | NACC1 | c.143T>C (p.Leu48Pro) | |
19 | g.13135350T>G | CA404324402 | NACC1 | c.143T>G (p.Leu48Arg) |