Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48750933G>A | CA059842 | FUT1 | c.349C>T (p.His117Tyr) c.718C>T (p.His240Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.48750933G>C | CA406703300 | FUT1 | c.349C>G (p.His117Asp) c.718C>G (p.His240Asp) | |
19 | g.48750933G= | CA2340052718 | FUT1 | c.349C= (p.His117=) c.718C= (p.His240=) | |
19 | g.48750933G>T | CA406703302 | FUT1 | c.349C>A (p.His117Asn) c.718C>A (p.His240Asn) | |
19 | g.48750934C>A | CA406703306 | FUT1 | c.348G>T (p.Met116Ile) c.717G>T (p.Met239Ile) | |
19 | g.48750934C= | CA2340052720 | FUT1 | c.348G= (p.Met116=) c.717G= (p.Met239=) | |
19 | g.48750934C>G | CA406703304 | FUT1 | c.348G>C (p.Met116Ile) c.717G>C (p.Met239Ile) | |
19 | g.48750934C>T | CA9557769 | FUT1 | c.348G>A (p.Met116Ile) c.717G>A (p.Met239Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.48750935A>C | CA406703308 | FUT1 | c.347T>G (p.Met116Arg) c.716T>G (p.Met239Arg) | |
19 | g.48750935A>G | CA406703318 | FUT1 | c.347T>C (p.Met116Thr) c.716T>C (p.Met239Thr) | |
19 | g.48750935A>T | CA406703320 | FUT1 | c.347T>A (p.Met116Lys) c.716T>A (p.Met239Lys) | |
19 | g.48750936T>A | CA406703322 | FUT1 | c.346A>T (p.Met116Leu) c.715A>T (p.Met239Leu) | |
19 | g.48750936T>C | CA406703323 | FUT1 | c.346A>G (p.Met116Val) c.715A>G (p.Met239Val) | gnomAD v4 |
19 | g.48750936T>G | CA406703325 | FUT1 | c.346A>C (p.Met116Leu) c.715A>C (p.Met239Leu) | |
19 | g.48750937G>A | CA9557770 | FUT1 | c.345C>T (p.Ala115=) c.714C>T (p.Ala238=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48750937G>C | CA508274580 | FUT1 | c.345C>G (p.Ala115=) c.714C>G (p.Ala238=) | |
19 | g.48750937G= | CA2340052722 | FUT1 | c.345C= (p.Ala115=) c.714C= (p.Ala238=) | |
19 | g.48750937G>T | CA508274582 | FUT1 | c.345C>A (p.Ala115=) c.714C>A (p.Ala238=) | |
19 | g.48750938dup | CA2586255173 | FUT1 | c.345dup (p.Met116HisfsTer?) c.714dup (p.Met239HisfsTer?) | gnomAD v4 |
19 | g.48750938G>A | CA406703329 | FUT1 | c.344C>T (p.Ala115Val) c.713C>T (p.Ala238Val) | |
19 | g.48750938G>C | CA406703331 | FUT1 | c.344C>G (p.Ala115Gly) c.713C>G (p.Ala238Gly) | |
19 | g.48750938G>T | CA406703332 | FUT1 | c.344C>A (p.Ala115Asp) c.713C>A (p.Ala238Asp) | |
19 | g.48750939C>A | CA406703335 | FUT1 | c.343G>T (p.Ala115Ser) c.712G>T (p.Ala238Ser) | |
19 | g.48750939C>G | CA406703337 | FUT1 | c.343G>C (p.Ala115Pro) c.712G>C (p.Ala238Pro) | |
19 | g.48750939C>T | CA406703340 | FUT1 | c.343G>A (p.Ala115Thr) c.712G>A (p.Ala238Thr) | |
19 | g.48750940A= | CA2340052723 | FUT1 | c.342T= (p.Pro114=) c.711T= (p.Pro237=) | |
19 | g.48750940A>C | CA508274586 | FUT1 | c.342T>G (p.Pro114=) c.711T>G (p.Pro237=) | |
19 | g.48750940A>G | CA508274587 | FUT1 | c.342T>C (p.Pro114=) c.711T>C (p.Pro237=) | dbSNP gnomAD v4 |
19 | g.48750940A>T | CA508274588 | FUT1 | c.342T>A (p.Pro114=) c.711T>A (p.Pro237=) | |
19 | g.48750941G>A | CA406703347 | FUT1 | c.341C>T (p.Pro114Leu) c.710C>T (p.Pro237Leu) | dbSNP gnomAD v4 |
19 | g.48750941G>C | CA406703343 | FUT1 | c.341C>G (p.Pro114Arg) c.710C>G (p.Pro237Arg) | |
19 | g.48750941G= | CA2340052724 | FUT1 | c.341C= (p.Pro114=) c.710C= (p.Pro237=) | |
19 | g.48750941G>T | CA406703345 | FUT1 | c.341C>A (p.Pro114His) c.710C>A (p.Pro237His) | |
19 | g.48750942G>A | CA309358599 | FUT1 | c.340C>T (p.Pro114Ser) c.709C>T (p.Pro237Ser) | dbSNP gnomAD v4 |
19 | g.48750942G>C | CA406703352 | FUT1 | c.340C>G (p.Pro114Ala) c.709C>G (p.Pro237Ala) | |
19 | g.48750942G= | CA2340052727 | FUT1 | c.340C= (p.Pro114=) c.709C= (p.Pro237=) | |
19 | g.48750942G>T | CA406703354 | FUT1 | c.340C>A (p.Pro114Thr) c.709C>A (p.Pro237Thr) | |
19 | g.48750942_48750943delinsGC | CA2340052726 | FUT1 | c.339_340delinsGC (p.Leu113=) c.708_709delinsGC (p.Leu236=) | |
19 | g.48750943del | CA9557771 | FUT1 | c.339del (p.Pro114LeufsTer?) c.708del (p.Pro237LeufsTer?) | dbSNP ExAC gnomAD v2 |
19 | g.48750943C>A | CA508274600 | FUT1 | c.339G>T (p.Leu113=) c.708G>T (p.Leu236=) | |
19 | g.48750943C>G | CA508274601 | FUT1 | c.339G>C (p.Leu113=) c.708G>C (p.Leu236=) | |
19 | g.48750943C>T | CA508274599 | FUT1 | c.339G>A (p.Leu113=) c.708G>A (p.Leu236=) | gnomAD v4 |
19 | g.48750944A>C | CA406703375 | FUT1 | c.338T>G (p.Leu113Arg) c.707T>G (p.Leu236Arg) | |
19 | g.48750944A>G | CA406703377 | FUT1 | c.338T>C (p.Leu113Pro) c.707T>C (p.Leu236Pro) | |
19 | g.48750944A>T | CA406703381 | FUT1 | c.338T>A (p.Leu113Gln) c.707T>A (p.Leu236Gln) | |
19 | g.48750945G>A | CA9557772 | FUT1 | c.337C>T (p.Leu113=) c.706C>T (p.Leu236=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48750945G>C | CA406703383 | FUT1 | c.337C>G (p.Leu113Val) c.706C>G (p.Leu236Val) | |
19 | g.48750945G= | CA2340052730 | FUT1 | c.337C= (p.Leu113=) c.706C= (p.Leu236=) | |
19 | g.48750945G>T | CA406703385 | FUT1 | c.337C>A (p.Leu113Met) c.706C>A (p.Leu236Met) | |
19 | g.48750946G>A | CA508274608 | FUT1 | c.336C>T (p.Ile112=) c.705C>T (p.Ile235=) |