Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13135999A= | CA2323741706 | NACC1 | c.792A= (p.Pro264=) | |
19 | g.13135999A>C | CA505782820 | NACC1 | c.792A>C (p.Pro264=) | |
19 | g.13135999A>G | CA505782824 | NACC1 | c.792A>G (p.Pro264=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135999A>T | CA505782825 | NACC1 | c.792A>T (p.Pro264=) | |
19 | g.13136000G>A | CA404326275 | NACC1 | c.793G>A (p.Gly265Ser) | |
19 | g.13136000G>C | CA404326276 | NACC1 | c.793G>C (p.Gly265Arg) | |
19 | g.13136000G>T | CA404326278 | NACC1 | c.793G>T (p.Gly265Cys) | |
19 | g.13136001G>A | CA404326279 | NACC1 | c.794G>A (p.Gly265Asp) | |
19 | g.13136001G>C | CA404326282 | NACC1 | c.794G>C (p.Gly265Ala) | |
19 | g.13136001G>T | CA404326285 | NACC1 | c.794G>T (p.Gly265Val) | |
19 | g.13136002C>A | CA505782827 | NACC1 | c.795C>A (p.Gly265=) | |
19 | g.13136002C>G | CA505782828 | NACC1 | c.795C>G (p.Gly265=) | |
19 | g.13136002C>T | CA505782829 | NACC1 | c.795C>T (p.Gly265=) | |
19 | g.13136003A= | CA2323741707 | NACC1 | c.796A= (p.Thr266=) | |
19 | g.13136003A>C | CA9238324 | NACC1 | c.796A>C (p.Thr266Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136003A>G | CA404326291 | NACC1 | c.796A>G (p.Thr266Ala) | |
19 | g.13136003A>T | CA404326294 | NACC1 | c.796A>T (p.Thr266Ser) | gnomAD v4 |
19 | g.13136004C>A | CA404326295 | NACC1 | c.797C>A (p.Thr266Asn) | |
19 | g.13136004C= | CA2323741708 | NACC1 | c.797C= (p.Thr266=) | |
19 | g.13136004C>G | CA404326297 | NACC1 | c.797C>G (p.Thr266Ser) | |
19 | g.13136004C>T | CA404326299 | NACC1 | c.797C>T (p.Thr266Ile) | dbSNP gnomAD v4 |
19 | g.13136005C>A | CA505782851 | NACC1 | c.798C>A (p.Thr266=) | gnomAD v4 |
19 | g.13136005C= | CA2323741709 | NACC1 | c.798C= (p.Thr266=) | |
19 | g.13136005C>G | CA505782852 | NACC1 | c.798C>G (p.Thr266=) | |
19 | g.13136005C>T | CA505782853 | NACC1 | c.798C>T (p.Thr266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136006T>A | CA404326303 | NACC1 | c.799T>A (p.Ser267Thr) | |
19 | g.13136006T>C | CA404326306 | NACC1 | c.799T>C (p.Ser267Pro) | |
19 | g.13136006T>G | CA404326301 | NACC1 | c.799T>G (p.Ser267Ala) | |
19 | g.13136006T= | CA2323741710 | NACC1 | c.799T= (p.Ser267=) | |
19 | g.13136006_13136007insGAGG | CA993702932 | NACC1 | c.799_800insGAGG (p.Ser267Ter) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136007C>A | CA404326310 | NACC1 | c.800C>A (p.Ser267Ter) | |
19 | g.13136007C>G | CA404326316 | NACC1 | c.800C>G (p.Ser267Ter) | |
19 | g.13136007C>T | CA404326312 | NACC1 | c.800C>T (p.Ser267Leu) | |
19 | g.13136008A= | CA2323741711 | NACC1 | c.801A= (p.Ser267=) | |
19 | g.13136008A>C | CA505782863 | NACC1 | c.801A>C (p.Ser267=) | gnomAD v4 |
19 | g.13136008A>G | CA505782862 | NACC1 | c.801A>G (p.Ser267=) | |
19 | g.13136008A>T | CA505782858 | NACC1 | c.801A>T (p.Ser267=) | |
19 | g.13136008_13136009insCTTG | CA993702936 | NACC1 | c.801_802insCTTG (p.Ser268LeufsTer15) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136009A>C | CA404326318 | NACC1 | c.802A>C (p.Ser268Arg) | |
19 | g.13136009A>G | CA404326321 | NACC1 | c.802A>G (p.Ser268Gly) | gnomAD v4 |
19 | g.13136009A>T | CA404326324 | NACC1 | c.802A>T (p.Ser268Cys) | |
19 | g.13136010G>A | CA404326326 | NACC1 | c.803G>A (p.Ser268Asn) | |
19 | g.13136010G>C | CA404326329 | NACC1 | c.803G>C (p.Ser268Thr) | |
19 | g.13136010G>T | CA404326331 | NACC1 | c.803G>T (p.Ser268Ile) | gnomAD v4 |
19 | g.13136011C>A | CA404326336 | NACC1 | c.804C>A (p.Ser268Arg) | |
19 | g.13136011C= | CA2323741712 | NACC1 | c.804C= (p.Ser268=) | |
19 | g.13136011C>G | CA404326333 | NACC1 | c.804C>G (p.Ser268Arg) | |
19 | g.13136011C>T | CA305553250 | NACC1 | c.804C>T (p.Ser268=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136012G>A | CA9238325 | NACC1 | c.805G>A (p.Ala269Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136012G>C | CA404326341 | NACC1 | c.805G>C (p.Ala269Pro) |