Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378447A= | CA2155953360 | SERPINA1 | c.*2T= (n.*2T=) c.*558T= (n.*558T=) | |
14 | g.94378447A>C | CA2626279394 | SERPINA1 | c.*2T>G (n.*2T>G) c.*558T>G (n.*558T>G) | gnomAD v4 |
14 | g.94378447A>T | CA2155953361 | SERPINA1 | c.*2T>A (n.*2T>A) c.*558T>A (n.*558T>A) | dbSNP |
14 | g.94378448G>A | CA7327243 | SERPINA1 | c.*1C>T (n.*1C>T) c.*557C>T (n.*557C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378448G>C | CA710093174 | SERPINA1 | c.*1C>G (n.*1C>G) c.*557C>G (n.*557C>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378448G= | CA2155953362 | SERPINA1 | c.*1C= (n.*1C=) c.*557C= (n.*557C=) | |
14 | g.94378449T>A | CA390847266 | SERPINA1 | c.1257A>T (p.Ter419Tyr) c.*556A>T (n.*556A>T) | |
14 | g.94378449T>C | CA487621063 | SERPINA1 | c.1257A>G (p.Ter419=) c.*556A>G (n.*556A>G) | |
14 | g.94378449T>G | CA390847267 | SERPINA1 | c.1257A>C (p.Ter419Tyr) c.*556A>C (n.*556A>C) | |
14 | g.94378450T>A | CA390847268 | SERPINA1 | c.1256A>T (p.Ter419Leu) c.*555A>T (n.*555A>T) | |
14 | g.94378450T>C | CA7327244 | SERPINA1 | c.1256A>G (p.Ter419=) c.*555A>G (n.*555A>G) | dbSNP ExAC |
14 | g.94378450T>G | CA390847269 | SERPINA1 | c.1256A>C (p.Ter419Ser) c.*555A>C (n.*555A>C) | |
14 | g.94378450T= | CA2155953363 | SERPINA1 | c.1256A= (p.Ter419=) c.*555A= (n.*555A=) | |
14 | g.94378456_94378504del | CA2695219652 | SERPINA1 | c.1208_1256del (p.Thr403AsnfsTer?) c.1208_1256del (p.Thr403=) c.*507_*555del (n.*507_*555del) | |
14 | g.94378451A>C | CA390847270 | SERPINA1 | c.1255T>G (p.Ter419Glu) c.*554T>G (n.*554T>G) | |
14 | g.94378451A>G | CA390847271 | SERPINA1 | c.1255T>C (p.Ter419Gln) c.*554T>C (n.*554T>C) | |
14 | g.94378451A>T | CA390847272 | SERPINA1 | c.1255T>A (p.Ter419Lys) c.*554T>A (n.*554T>A) | |
14 | g.94378452T>A | CA390847273 | SERPINA1 | c.1254A>T (p.Lys418Asn) c.*553A>T (n.*553A>T) | |
14 | g.94378452T>C | CA487621066 | SERPINA1 | c.1254A>G (p.Lys418=) c.*553A>G (n.*553A>G) | |
14 | g.94378452T>G | CA390847274 | SERPINA1 | c.1254A>C (p.Lys418Asn) c.*553A>C (n.*553A>C) | |
14 | g.94378453T>A | CA390847275 | SERPINA1 | c.1253A>T (p.Lys418Ile) c.*552A>T (n.*552A>T) | dbSNP gnomAD v4 |
14 | g.94378453T>C | CA390847276 | SERPINA1 | c.1253A>G (p.Lys418Arg) c.*552A>G (n.*552A>G) | |
14 | g.94378453T>G | CA390847277 | SERPINA1 | c.1253A>C (p.Lys418Thr) c.*552A>C (n.*552A>C) | |
14 | g.94378453T= | CA2155953364 | SERPINA1 | c.1253A= (p.Lys418=) c.*552A= (n.*552A=) | |
14 | g.94378454T>A | CA390847278 | SERPINA1 | c.1252A>T (p.Lys418Ter) c.*551A>T (n.*551A>T) | gnomAD v4 |
14 | g.94378454T>C | CA390847279 | SERPINA1 | c.1252A>G (p.Lys418Glu) c.*551A>G (n.*551A>G) | |
14 | g.94378454T>G | CA390847280 | SERPINA1 | c.1252A>C (p.Lys418Gln) c.*551A>C (n.*551A>C) | |
14 | g.94378455T>A | CA390847282 | SERPINA1 | c.1251A>T (p.Gln417His) c.*550A>T (n.*550A>T) | |
14 | g.94378455T>C | CA265860585 | SERPINA1 | c.1251A>G (p.Gln417=) c.*550A>G (n.*550A>G) | dbSNP |
14 | g.94378455T>G | CA390847281 | SERPINA1 | c.1251A>C (p.Gln417His) c.*550A>C (n.*550A>C) | |
14 | g.94378455T= | CA2155953365 | SERPINA1 | c.1251A= (p.Gln417=) c.*550A= (n.*550A=) | |
14 | g.94378456T>A | CA7327245 | SERPINA1 | c.1250A>T (p.Gln417Leu) c.*549A>T (n.*549A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.94378456T>C | CA390847283 | SERPINA1 | c.1250A>G (p.Gln417Arg) c.*549A>G (n.*549A>G) | |
14 | g.94378456T>G | CA390847284 | SERPINA1 | c.1250A>C (p.Gln417Pro) c.*549A>C (n.*549A>C) | gnomAD v4 |
14 | g.94378456T= | CA2155953366 | SERPINA1 | c.1250A= (p.Gln417=) c.*549A= (n.*549A=) | |
14 | g.94378457G>A | CA390847285 | SERPINA1 | c.1249C>T (p.Gln417Ter) c.*548C>T (n.*548C>T) | |
14 | g.94378457G>C | CA390847286 | SERPINA1 | c.1249C>G (p.Gln417Glu) c.*548C>G (n.*548C>G) | |
14 | g.94378457G= | CA2155953367 | SERPINA1 | c.1249C= (p.Gln417=) c.*548C= (n.*548C=) | |
14 | g.94378457G>T | CA390847287 | SERPINA1 | c.1249C>A (p.Gln417Lys) c.*548C>A (n.*548C>A) | dbSNP gnomAD v4 |
14 | g.94378458G>A | CA487621072 | SERPINA1 | c.1248C>T (p.Thr416=) c.*547C>T (n.*547C>T) | dbSNP gnomAD v4 |
14 | g.94378458G>C | CA487621073 | SERPINA1 | c.1248C>G (p.Thr416=) c.*547C>G (n.*547C>G) | |
14 | g.94378458G= | CA2155953368 | SERPINA1 | c.1248C= (p.Thr416=) c.*547C= (n.*547C=) | |
14 | g.94378458G>T | CA487621074 | SERPINA1 | c.1248C>A (p.Thr416=) c.*547C>A (n.*547C>A) | ClinVar dbSNP gnomAD v4 |
14 | g.94378459G>A | CA390847288 | SERPINA1 | c.1247C>T (p.Thr416Ile) c.*546C>T (n.*546C>T) | |
14 | g.94378459G>C | CA390847290 | SERPINA1 | c.1247C>G (p.Thr416Ser) c.*546C>G (n.*546C>G) | |
14 | g.94378459G>T | CA390847289 | SERPINA1 | c.1247C>A (p.Thr416Asn) c.*546C>A (n.*546C>A) | |
14 | g.94378460T>A | CA390847291 | SERPINA1 | c.1246A>T (p.Thr416Ser) c.*545A>T (n.*545A>T) | |
14 | g.94378460T>C | CA390847292 | SERPINA1 | c.1246A>G (p.Thr416Ala) c.*545A>G (n.*545A>G) | |
14 | g.94378460T>G | CA265860588 | SERPINA1 | c.1246A>C (p.Thr416Pro) c.*545A>C (n.*545A>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378460T= | CA2155953369 | SERPINA1 | c.1246A= (p.Thr416=) c.*545A= (n.*545A=) |