Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.74773969_74776493del | CA2580613902 | ClinVar | ||
16 | g.74774653C>A | CA251671 | FA2H | c.103G>T (p.Asp35Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.74774653C= | CA2232982624 | FA2H | c.103G= (p.Asp35=) | |
16 | g.74774653C>G | CA396768413 | FA2H | c.103G>C (p.Asp35His) | |
16 | g.74774653C>T | CA396768414 | FA2H | c.103G>A (p.Asp35Asn) | gnomAD v4 |
16 | g.74774654G>A | CA496690877 | FA2H | c.102C>T (p.Tyr34=) | gnomAD v4 |
16 | g.74774654G>C | CA283770055 | FA2H | c.102C>G (p.Tyr34Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.74774654G= | CA2232982625 | FA2H | c.102C= (p.Tyr34=) | |
16 | g.74774654G>T | CA396768415 | FA2H | c.102C>A (p.Tyr34Ter) | gnomAD v4 |
16 | g.74774655T>A | CA396768416 | FA2H | c.101A>T (p.Tyr34Phe) | |
16 | g.74774655T>C | CA396768417 | FA2H | c.101A>G (p.Tyr34Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774655T>G | CA396768418 | FA2H | c.101A>C (p.Tyr34Ser) | |
16 | g.74774655T= | CA2232982626 | FA2H | c.101A= (p.Tyr34=) | |
16 | g.74774656A>C | CA396768421 | FA2H | c.100T>G (p.Tyr34Asp) | |
16 | g.74774656A>G | CA396768419 | FA2H | c.100T>C (p.Tyr34His) | gnomAD v4 |
16 | g.74774656A>T | CA396768420 | FA2H | c.100T>A (p.Tyr34Asn) | |
16 | g.74774657G>A | CA496690878 | FA2H | c.99C>T (p.Leu33=) | gnomAD v4 |
16 | g.74774657G>C | CA496690879 | FA2H | c.99C>G (p.Leu33=) | |
16 | g.74774657G>T | CA496690880 | FA2H | c.99C>A (p.Leu33=) | gnomAD v4 |
16 | g.74774658A= | CA2232982627 | FA2H | c.98T= (p.Leu33=) | |
16 | g.74774658A>C | CA396768422 | FA2H | c.98T>G (p.Leu33Arg) | |
16 | g.74774658A>G | CA396768423 | FA2H | c.98T>C (p.Leu33Pro) | gnomAD v4 |
16 | g.74774658A>T | CA396768424 | FA2H | c.98T>A (p.Leu33His) | gnomAD v4 |
16 | g.74774659G>A | CA396768425 | FA2H | c.97C>T (p.Leu33Phe) | gnomAD v4 |
16 | g.74774659G>C | CA396768426 | FA2H | c.97C>G (p.Leu33Val) | gnomAD v4 |
16 | g.74774659G>T | CA396768427 | FA2H | c.97C>A (p.Leu33Ile) | gnomAD v4 |
16 | g.74774664_74774675dup | CA979036982 | FA2H | c.86_97dup (p.Arg32_Leu33insArgGlyAlaArg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774660G>A | CA283770059 | FA2H | c.96C>T (p.Arg32=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774660G>C | CA496690881 | FA2H | c.96C>G (p.Arg32=) | |
16 | g.74774660G= | CA2232982628 | FA2H | c.96C= (p.Arg32=) | |
16 | g.74774660G>T | CA496690882 | FA2H | c.96C>A (p.Arg32=) | gnomAD v4 |
16 | g.74774661C>A | CA396768428 | FA2H | c.95G>T (p.Arg32Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774661C= | CA2232982629 | FA2H | c.95G= (p.Arg32=) | |
16 | g.74774661C>G | CA396768429 | FA2H | c.95G>C (p.Arg32Pro) | gnomAD v4 |
16 | g.74774661C>T | CA396768430 | FA2H | c.95G>A (p.Arg32His) | gnomAD v4 |
16 | g.74774662G>A | CA396768431 | FA2H | c.94C>T (p.Arg32Cys) | dbSNP gnomAD v4 |
16 | g.74774662G>C | CA16614992 | FA2H | c.94C>G (p.Arg32Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774662G= | CA2232982630 | FA2H | c.94C= (p.Arg32=) | |
16 | g.74774662G>T | CA396768432 | FA2H | c.94C>A (p.Arg32Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774664del | CA2634290017 | FA2H | c.94del (p.Arg32AlafsTer?) | gnomAD v4 |
16 | g.74774663G>A | CA496690883 | FA2H | c.93C>T (p.Ala31=) | gnomAD v4 |
16 | g.74774663G>C | CA496690884 | FA2H | c.93C>G (p.Ala31=) | gnomAD v4 |
16 | g.74774663G>T | CA496690885 | FA2H | c.93C>A (p.Ala31=) | gnomAD v4 |
16 | g.74774664G>A | CA396768434 | FA2H | c.92C>T (p.Ala31Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774664G>C | CA396768435 | FA2H | c.92C>G (p.Ala31Gly) | |
16 | g.74774664G= | CA2232982631 | FA2H | c.92C= (p.Ala31=) | |
16 | g.74774664G>T | CA396768433 | FA2H | c.92C>A (p.Ala31Asp) | gnomAD v4 |
16 | g.74774665C>A | CA396768436 | FA2H | c.91G>T (p.Ala31Ser) | gnomAD v4 |
16 | g.74774665C>G | CA396768438 | FA2H | c.91G>C (p.Ala31Pro) | gnomAD v4 |
16 | g.74774665C>T | CA396768437 | FA2H | c.91G>A (p.Ala31Thr) | gnomAD v4 |