Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41586287_41586313del | CA2637837224 | KRT14 | c.524_525+25del | gnomAD v4 |
17 | g.41586305C>G | CA2637837231 | KRT14 | c.525+5G>C (n.525+5G>C) | gnomAD v4 |
17 | g.41586307del | CA2637837232 | KRT14 | c.525+5del (n.525+5del) | gnomAD v4 |
17 | g.41586306C= | CA2260086759 | KRT14 | c.525+4G= (n.525+4G=) | |
17 | g.41586306C>T | CA772040561 | KRT14 | c.525+4G>A (n.525+4G>A) | dbSNP gnomAD v4 |
17 | g.41586307C>A | CA290665529 | KRT14 | c.525+3G>T (n.525+3G>T) | dbSNP |
17 | g.41586307C= | CA2260086760 | KRT14 | c.525+3G= (n.525+3G=) | |
17 | g.41586307C>G | CA290665531 | KRT14 | c.525+3G>C (n.525+3G>C) | dbSNP |
17 | g.41586308A>C | CA399481620 | KRT14 | c.525+2T>G (n.525+2T>G) | |
17 | g.41586308A>G | CA399481626 | KRT14 | c.525+2T>C (n.525+2T>C) | |
17 | g.41586308A>T | CA399481623 | KRT14 | c.525+2T>A (n.525+2T>A) | |
17 | g.41586309C>A | CA399481629 | KRT14 | c.525+1G>T (n.525+1G>T) | gnomAD v4 |
17 | g.41586309C= | CA2260086761 | KRT14 | c.525+1G= (n.525+1G=) | |
17 | g.41586309C>G | CA290665533 | KRT14 | c.525+1G>C (n.525+1G>C) | dbSNP |
17 | g.41586309C>T | CA290665535 | KRT14 | c.525+1G>A (n.525+1G>A) | dbSNP COSMIC |
17 | g.41586310C>A | CA399481635 | KRT14 | c.525G>T (p.Lys175Asn) | |
17 | g.41586310C= | CA2260086762 | KRT14 | c.525G= (p.Lys175=) | |
17 | g.41586310C>G | CA399481636 | KRT14 | c.525G>C (p.Lys175Asn) | gnomAD v4 |
17 | g.41586310C>T | CA8562703 | KRT14 | c.525G>A (p.Lys175=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586311T>A | CA399481640 | KRT14 | c.524A>T (p.Lys175Met) | dbSNP |
17 | g.41586311T>C | CA399481643 | KRT14 | c.524A>G (p.Lys175Arg) | gnomAD v4 |
17 | g.41586311T>G | CA399481646 | KRT14 | c.524A>C (p.Lys175Thr) | |
17 | g.41586311T= | CA2260086763 | KRT14 | c.524A= (p.Lys175=) | |
17 | g.41586312T>A | CA399481649 | KRT14 | c.523A>T (p.Lys175Ter) | |
17 | g.41586312T>C | CA399481650 | KRT14 | c.523A>G (p.Lys175Glu) | gnomAD v4 |
17 | g.41586312T>G | CA399481653 | KRT14 | c.523A>C (p.Lys175Gln) | |
17 | g.41586313G>A | CA499991545 | KRT14 | c.522C>T (p.Asn174=) | gnomAD v4 |
17 | g.41586313G>C | CA399481664 | KRT14 | c.522C>G (p.Asn174Lys) | |
17 | g.41586313G>T | CA399481666 | KRT14 | c.522C>A (p.Asn174Lys) | |
17 | g.41586314T>A | CA399481670 | KRT14 | c.521A>T (p.Asn174Ile) | |
17 | g.41586314T>C | CA399481672 | KRT14 | c.521A>G (p.Asn174Ser) | gnomAD v4 |
17 | g.41586314T>G | CA399481674 | KRT14 | c.521A>C (p.Asn174Thr) | |
17 | g.41586315T>A | CA399481677 | KRT14 | c.520A>T (p.Asn174Tyr) | |
17 | g.41586315T>C | CA399481680 | KRT14 | c.520A>G (p.Asn174Asp) | |
17 | g.41586315T>G | CA399481683 | KRT14 | c.520A>C (p.Asn174His) | |
17 | g.41586316C>A | CA399481684 | KRT14 | c.519G>T (p.Arg173Ser) | |
17 | g.41586316C>G | CA399481689 | KRT14 | c.519G>C (p.Arg173Ser) | |
17 | g.41586316C>T | CA499991564 | KRT14 | c.519G>A (p.Arg173=) | |
17 | g.41586317C>A | CA8562704 | KRT14 | c.518G>T (p.Arg173Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41586317C= | CA2260086764 | KRT14 | c.518G= (p.Arg173=) | |
17 | g.41586317C>G | CA399481695 | KRT14 | c.518G>C (p.Arg173Thr) | |
17 | g.41586317C>T | CA399481697 | KRT14 | c.518G>A (p.Arg173Lys) | |
17 | g.41586318T>A | CA399481702 | KRT14 | c.517A>T (p.Arg173Trp) | |
17 | g.41586318T>C | CA399481703 | KRT14 | c.517A>G (p.Arg173Gly) | |
17 | g.41586318T>G | CA499991573 | KRT14 | c.517A>C (p.Arg173=) | |
17 | g.41586319C>A | CA499991574 | KRT14 | c.516G>T (p.Leu172=) | |
17 | g.41586319C= | CA2260086765 | KRT14 | c.516G= (p.Leu172=) | |
17 | g.41586319C>G | CA499991576 | KRT14 | c.516G>C (p.Leu172=) | dbSNP gnomAD v4 |
17 | g.41586319C>T | CA499991575 | KRT14 | c.516G>A (p.Leu172=) | COSMIC |
17 | g.41586320A>C | CA399481705 | KRT14 | c.515T>G (p.Leu172Arg) |