Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.27924341G>A | CA483175674 | PDX1 | c.492G>A (p.Glu164=) | gnomAD v4 |
13 | g.27924341G>C | CA387645431 | PDX1 | c.492G>C (p.Glu164Asp) | |
13 | g.27924341G= | CA2080721232 | PDX1 | c.492G= (p.Glu164=) | |
13 | g.27924341G>T | CA128950 | PDX1 | c.492G>T (p.Glu164Asp) | ClinVar dbSNP |
13 | g.27924342T>A | CA387645432 | PDX1 | c.493T>A (p.Phe165Ile) | |
13 | g.27924342T>C | CA387645434 | PDX1 | c.493T>C (p.Phe165Leu) | |
13 | g.27924342T>G | CA387645433 | PDX1 | c.493T>G (p.Phe165Val) | |
13 | g.27924342T= | CA2080721233 | PDX1 | c.493T= (p.Phe165=) | |
13 | g.27924343T>A | CA387645435 | PDX1 | c.494T>A (p.Phe165Tyr) | gnomAD v4 |
13 | g.27924343T>C | CA387645436 | PDX1 | c.494T>C (p.Phe165Ser) | |
13 | g.27924343T>G | CA387645437 | PDX1 | c.494T>G (p.Phe165Cys) | |
13 | g.27924344_27924346dup | CA608987663 | PDX1 | c.495_497dup (p.Leu166_Phe167insLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.27924344C>A | CA387645438 | PDX1 | c.495C>A (p.Phe165Leu) | |
13 | g.27924344C= | CA2080721234 | PDX1 | c.495C= (p.Phe165=) | |
13 | g.27924344C>G | CA387645439 | PDX1 | c.495C>G (p.Phe165Leu) | |
13 | g.27924344C>T | CA483175679 | PDX1 | c.495C>T (p.Phe165=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.27924345C>A | CA387645440 | PDX1 | c.496C>A (p.Leu166Ile) | |
13 | g.27924345C>G | CA387645441 | PDX1 | c.496C>G (p.Leu166Val) | |
13 | g.27924345C>T | CA483175680 | PDX1 | c.496C>T (p.Leu166=) | gnomAD v4 |
13 | g.27924345_27924346del | CA2622478295 | PDX1 | c.496_497del (p.Leu166IlefsTer?) | gnomAD v4 |
13 | g.27924346T>A | CA247265272 | PDX1 | c.497T>A (p.Leu166Gln) | dbSNP |
13 | g.27924346T>C | CA387645442 | PDX1 | c.497T>C (p.Leu166Pro) | |
13 | g.27924346T>G | CA387645444 | PDX1 | c.497T>G (p.Leu166Arg) | |
13 | g.27924346T= | CA2080721235 | PDX1 | c.497T= (p.Leu166=) | |
13 | g.27924347A= | CA2080721236 | PDX1 | c.498A= (p.Leu166=) | |
13 | g.27924347A>C | CA483175684 | PDX1 | c.498A>C (p.Leu166=) | |
13 | g.27924347A>G | CA6927674 | PDX1 | c.498A>G (p.Leu166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.27924347A>T | CA483175685 | PDX1 | c.498A>T (p.Leu166=) | |
13 | g.27924348T>A | CA387645452 | PDX1 | c.499T>A (p.Phe167Ile) | |
13 | g.27924348T>C | CA387645450 | PDX1 | c.499T>C (p.Phe167Leu) | dbSNP gnomAD v4 |
13 | g.27924348T>G | CA387645449 | PDX1 | c.499T>G (p.Phe167Val) | |
13 | g.27924348T= | CA2080721237 | PDX1 | c.499T= (p.Phe167=) | |
13 | g.27924349T>A | CA387645456 | PDX1 | c.500T>A (p.Phe167Tyr) | |
13 | g.27924349T>C | CA387645454 | PDX1 | c.500T>C (p.Phe167Ser) | |
13 | g.27924349T>G | CA387645458 | PDX1 | c.500T>G (p.Phe167Cys) | |
13 | g.27924350C>A | CA387645459 | PDX1 | c.501C>A (p.Phe167Leu) | |
13 | g.27924350C>G | CA387645460 | PDX1 | c.501C>G (p.Phe167Leu) | |
13 | g.27924350C>T | CA483175689 | PDX1 | c.501C>T (p.Phe167=) | gnomAD v4 |
13 | g.27924350_27924351delinsCA | CA2080721238 | PDX1 | c.501_502delinsCA (p.Phe167=) | |
13 | g.27924353_27924355del | CA2622478296 | PDX1 | c.504_506del (p.Asn168del) | gnomAD v4 |
13 | g.27924351A= | CA2080721239 | PDX1 | c.502A= (p.Asn168=) | |
13 | g.27924351A>C | CA387645461 | PDX1 | c.502A>C (p.Asn168His) | ClinVar dbSNP |
13 | g.27924351A>G | CA387645462 | PDX1 | c.502A>G (p.Asn168Asp) | |
13 | g.27924351A>T | CA387645463 | PDX1 | c.502A>T (p.Asn168Tyr) | |
13 | g.27924352del | CA697008577 | PDX1 | c.503del (p.Asn168ThrfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.27924352A>C | CA387645465 | PDX1 | c.503A>C (p.Asn168Thr) | |
13 | g.27924352A>G | CA387645467 | PDX1 | c.503A>G (p.Asn168Ser) | |
13 | g.27924352A>T | CA387645468 | PDX1 | c.503A>T (p.Asn168Ile) | |
13 | g.27924353C>A | CA387645470 | PDX1 | c.504C>A (p.Asn168Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.27924353C= | CA2080721240 | PDX1 | c.504C= (p.Asn168=) |