Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.106034281G>A | CA413875220 | SERPINA7 | c.998C>T (p.Ala333Val) n.271C>T | |
X | g.106034281G>C | CA413875222 | SERPINA7 | c.998C>G (p.Ala333Gly) n.271C>G | |
X | g.106034281G>T | CA413875224 | SERPINA7 | c.998C>A (p.Ala333Asp) n.271C>A | |
X | g.106034282C>A | CA413875231 | SERPINA7 | c.997G>T (p.Ala333Ser) n.270G>T | |
X | g.106034282C>G | CA413875229 | SERPINA7 | c.997G>C (p.Ala333Pro) n.270G>C | |
X | g.106034282C>T | CA413875228 | SERPINA7 | c.997G>A (p.Ala333Thr) n.270G>A | |
X | g.106034283A>C | CA413875234 | SERPINA7 | c.996T>G (p.Asn332Lys) n.269T>G | |
X | g.106034283A>G | CA517953367 | SERPINA7 | c.996T>C (p.Asn332=) n.269T>C | gnomAD v3 gnomAD v4 |
X | g.106034283A>T | CA413875236 | SERPINA7 | c.996T>A (p.Asn332Lys) n.269T>A | |
X | g.106034283_106034284delinsAT | CA2449828580 | SERPINA7 | c.995_996delinsAT (p.Asn332=) n.268_269delinsAT | |
X | g.106034284T>A | CA413875240 | SERPINA7 | c.995A>T (p.Asn332Ile) n.268A>T | |
X | g.106034284T>C | CA413875242 | SERPINA7 | c.995A>G (p.Asn332Ser) n.268A>G | |
X | g.106034284T>G | CA413875245 | SERPINA7 | c.995A>C (p.Asn332Thr) n.268A>C | |
X | g.106034287del | CA643689538 | SERPINA7 | c.995del (p.Asn332MetfsTer13) n.268del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.106034285T>A | CA413875248 | SERPINA7 | c.994A>T (p.Asn332Tyr) n.267A>T | |
X | g.106034285T>C | CA413875250 | SERPINA7 | c.994A>G (p.Asn332Asp) n.267A>G | |
X | g.106034285T>G | CA413875252 | SERPINA7 | c.994A>C (p.Asn332His) n.267A>C | |
X | g.106034286T>A | CA413875255 | SERPINA7 | c.993A>T (p.Glu331Asp) n.266A>T | |
X | g.106034286T>C | CA517953368 | SERPINA7 | c.993A>G (p.Glu331=) n.266A>G | |
X | g.106034286T>G | CA413875256 | SERPINA7 | c.993A>C (p.Glu331Asp) n.266A>C | |
X | g.106034287T>A | CA413875259 | SERPINA7 | c.992A>T (p.Glu331Val) n.265A>T | |
X | g.106034287T>C | CA413875262 | SERPINA7 | c.992A>G (p.Glu331Gly) n.265A>G | |
X | g.106034287T>G | CA413875263 | SERPINA7 | c.992A>C (p.Glu331Ala) n.265A>C | |
X | g.106034288C>A | CA413875271 | SERPINA7 | c.991G>T (p.Glu331Ter) n.264G>T | |
X | g.106034288C>G | CA413875267 | SERPINA7 | c.991G>C (p.Glu331Gln) n.264G>C | |
X | g.106034288C>T | CA413875270 | SERPINA7 | c.991G>A (p.Glu331Lys) n.264G>A | |
X | g.106034289A>C | CA517953369 | SERPINA7 | c.990T>G (p.Ser330=) n.263T>G | |
X | g.106034289A>G | CA517953370 | SERPINA7 | c.990T>C (p.Ser330=) n.263T>C | |
X | g.106034289A>T | CA517953371 | SERPINA7 | c.990T>A (p.Ser330=) n.263T>A | |
X | g.106034290G>A | CA413875274 | SERPINA7 | c.989C>T (p.Ser330Phe) n.262C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.106034290G>C | CA413875276 | SERPINA7 | c.989C>G (p.Ser330Cys) n.262C>G | |
X | g.106034290G= | CA2449828581 | SERPINA7 | c.989C= (p.Ser330=) n.262C= | |
X | g.106034290G>T | CA413875278 | SERPINA7 | c.989C>A (p.Ser330Tyr) n.262C>A | |
X | g.106034291A>C | CA413875281 | SERPINA7 | c.988T>G (p.Ser330Ala) n.261T>G | |
X | g.106034291A>G | CA413875283 | SERPINA7 | c.988T>C (p.Ser330Pro) n.261T>C | |
X | g.106034291A>T | CA413875285 | SERPINA7 | c.988T>A (p.Ser330Thr) n.261T>A | |
X | g.106034292A>C | CA413875287 | SERPINA7 | c.987T>G (p.Tyr329Ter) n.260T>G | |
X | g.106034292A>G | CA517953372 | SERPINA7 | c.987T>C (p.Tyr329=) n.260T>C | |
X | g.106034292A>T | CA413875289 | SERPINA7 | c.987T>A (p.Tyr329Ter) n.260T>A | |
X | g.106034293del | CA2738907197 | SERPINA7 | c.986del (p.Tyr329PhefsTer16) n.259del | dbSNP |
X | g.106034293T>A | CA120672 | SERPINA7 | c.986A>T (p.Tyr329Phe) n.259A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.106034293T>C | CA413875292 | SERPINA7 | c.986A>G (p.Tyr329Cys) n.259A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.106034293T>G | CA413875294 | SERPINA7 | c.986A>C (p.Tyr329Ser) n.259A>C | |
X | g.106034293T= | CA2449828582 | SERPINA7 | c.986A= (p.Tyr329=) n.259A= | |
X | g.106034294A= | CA2449828583 | SERPINA7 | c.985T= (p.Tyr329=) n.258T= | |
X | g.106034294A>C | CA413875300 | SERPINA7 | c.985T>G (p.Tyr329Asp) n.258T>G | dbSNP |
X | g.106034294A>G | CA413875299 | SERPINA7 | c.985T>C (p.Tyr329His) n.258T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.106034294A>T | CA413875297 | SERPINA7 | c.985T>A (p.Tyr329Asn) n.258T>A | |
X | g.106034295G>A | CA517953374 | SERPINA7 | c.984C>T (p.Ala328=) n.257C>T | |
X | g.106034295G>C | CA517953375 | SERPINA7 | c.984C>G (p.Ala328=) n.257C>G | dbSNP |