Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.27924333G>A | CA387645409 | PDX1 | c.484G>A (p.Glu162Lys) n.1126G>A n.1138G>A | |
13 | g.27924333G>C | CA387645410 | PDX1 | c.484G>C (p.Glu162Gln) n.1126G>C n.1138G>C | |
13 | g.27924333G>T | CA387645411 | PDX1 | c.484G>T (p.Glu162Ter) n.1126G>T n.1138G>T | |
13 | g.27924334A= | CA2080721230 | PDX1 | c.485A= (p.Glu162=) n.1127A= n.1139A= | |
13 | g.27924334A>C | CA387645412 | PDX1 | c.485A>C (p.Glu162Ala) n.1127A>C n.1139A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.27924334A>G | CA387645413 | PDX1 | c.485A>G (p.Glu162Gly) n.1127A>G n.1139A>G | gnomAD v4 COSMIC |
13 | g.27924334A>T | CA387645414 | PDX1 | c.485A>T (p.Glu162Val) n.1127A>T n.1139A>T | |
13 | g.27924336_27924338del | CA2622478294 | PDX1 | c.487_489del (p.Lys163del) | gnomAD v4 |
13 | g.27924335G>A | CA483175658 | PDX1 | c.486G>A (p.Glu162=) | |
13 | g.27924335G>C | CA387645415 | PDX1 | c.486G>C (p.Glu162Asp) | |
13 | g.27924335G>T | CA387645416 | PDX1 | c.486G>T (p.Glu162Asp) | |
13 | g.27924336A>C | CA387645419 | PDX1 | c.487A>C (p.Lys163Gln) | |
13 | g.27924336A>G | CA387645418 | PDX1 | c.487A>G (p.Lys163Glu) | |
13 | g.27924336A>T | CA387645417 | PDX1 | c.487A>T (p.Lys163Ter) | |
13 | g.27924337A>C | CA387645420 | PDX1 | c.488A>C (p.Lys163Thr) | |
13 | g.27924337A>G | CA387645421 | PDX1 | c.488A>G (p.Lys163Arg) | ClinVar |
13 | g.27924337A>T | CA387645422 | PDX1 | c.488A>T (p.Lys163Met) | |
13 | g.27924338G>A | CA6927673 | PDX1 | c.489G>A (p.Lys163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.27924338G>C | CA387645423 | PDX1 | c.489G>C (p.Lys163Asn) | |
13 | g.27924338G= | CA2080721231 | PDX1 | c.489G= (p.Lys163=) | |
13 | g.27924338G>T | CA387645424 | PDX1 | c.489G>T (p.Lys163Asn) | |
13 | g.27924338_27924339delinsAA | CA645575869 | PDX1 | c.489_490delinsAA (p.Glu164Lys) | COSMIC |
13 | g.27924339G>A | CA387645427 | PDX1 | c.490G>A (p.Glu164Lys) | |
13 | g.27924339G>C | CA387645425 | PDX1 | c.490G>C (p.Glu164Gln) | |
13 | g.27924339G>T | CA387645426 | PDX1 | c.490G>T (p.Glu164Ter) | |
13 | g.27924340A>C | CA387645428 | PDX1 | c.491A>C (p.Glu164Ala) | |
13 | g.27924340A>G | CA387645429 | PDX1 | c.491A>G (p.Glu164Gly) | |
13 | g.27924340A>T | CA387645430 | PDX1 | c.491A>T (p.Glu164Val) | |
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) |