Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41586543_41586590dup | CA983759153 | KRT14 | c.255_302dup (p.Gly101_Gly102insGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGly) | gnomAD v3 gnomAD v4 |
17 | g.41586547_41586558del | CA772040919 | KRT14 | c.281_292del (p.Ala94_Gly97del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41586555C>A | CA399482841 | KRT14 | c.280G>T (p.Ala94Ser) | |
17 | g.41586555C= | CA2260086883 | KRT14 | c.280G= (p.Ala94=) | |
17 | g.41586555C>G | CA399482842 | KRT14 | c.280G>C (p.Ala94Pro) | |
17 | g.41586555C>T | CA216890 | KRT14 | c.280G>A (p.Ala94Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586556A>C | CA500205532 | KRT14 | c.279T>G (p.Gly93=) | |
17 | g.41586556A>G | CA500205533 | KRT14 | c.279T>C (p.Gly93=) | |
17 | g.41586556A>T | CA500205534 | KRT14 | c.279T>A (p.Gly93=) | |
17 | g.41586557C>A | CA399482843 | KRT14 | c.278G>T (p.Gly93Val) | |
17 | g.41586557C= | CA2260086884 | KRT14 | c.278G= (p.Gly93=) | |
17 | g.41586557C>G | CA399482844 | KRT14 | c.278G>C (p.Gly93Ala) | |
17 | g.41586557C>T | CA399482845 | KRT14 | c.278G>A (p.Gly93Asp) | dbSNP gnomAD v4 |
17 | g.41586558C>A | CA399482846 | KRT14 | c.277G>T (p.Gly93Cys) | gnomAD v4 |
17 | g.41586558C>G | CA399482847 | KRT14 | c.277G>C (p.Gly93Arg) | |
17 | g.41586558C>T | CA399482848 | KRT14 | c.277G>A (p.Gly93Ser) | |
17 | g.41586559A>C | CA500205536 | KRT14 | c.276T>G (p.Leu92=) | |
17 | g.41586559A>G | CA500205537 | KRT14 | c.276T>C (p.Leu92=) | gnomAD v4 |
17 | g.41586559A>T | CA500205538 | KRT14 | c.276T>A (p.Leu92=) | |
17 | g.41586560A>C | CA399482851 | KRT14 | c.275T>G (p.Leu92Arg) | |
17 | g.41586560A>G | CA399482849 | KRT14 | c.275T>C (p.Leu92Pro) | |
17 | g.41586560A>T | CA399482850 | KRT14 | c.275T>A (p.Leu92His) | |
17 | g.41586561G>A | CA399482852 | KRT14 | c.274C>T (p.Leu92Phe) | |
17 | g.41586561G>C | CA399482853 | KRT14 | c.274C>G (p.Leu92Val) | |
17 | g.41586561G>T | CA399482854 | KRT14 | c.274C>A (p.Leu92Ile) | |
17 | g.41586562G>A | CA500205540 | KRT14 | c.273C>T (p.Gly91=) | gnomAD v4 |
17 | g.41586562G>C | CA500205542 | KRT14 | c.273C>G (p.Gly91=) | |
17 | g.41586562G>T | CA500205541 | KRT14 | c.273C>A (p.Gly91=) | |
17 | g.41586563C>A | CA399482855 | KRT14 | c.272G>T (p.Gly91Val) | |
17 | g.41586563C= | CA2260086885 | KRT14 | c.272G= (p.Gly91=) | |
17 | g.41586563C>G | CA399482856 | KRT14 | c.272G>C (p.Gly91Ala) | |
17 | g.41586563C>T | CA399482857 | KRT14 | c.272G>A (p.Gly91Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41586564C>A | CA399482858 | KRT14 | c.271G>T (p.Gly91Cys) | |
17 | g.41586564C>G | CA399482859 | KRT14 | c.271G>C (p.Gly91Arg) | |
17 | g.41586564C>T | CA399482860 | KRT14 | c.271G>A (p.Gly91Ser) | |
17 | g.41586565A>C | CA500205544 | KRT14 | c.270T>G (p.Gly90=) | |
17 | g.41586565A>G | CA500205545 | KRT14 | c.270T>C (p.Gly90=) | |
17 | g.41586565A>T | CA500205546 | KRT14 | c.270T>A (p.Gly90=) | |
17 | g.41586566C>A | CA399482861 | KRT14 | c.269G>T (p.Gly90Val) | |
17 | g.41586566C>G | CA399482862 | KRT14 | c.269G>C (p.Gly90Ala) | |
17 | g.41586566C>T | CA399482863 | KRT14 | c.269G>A (p.Gly90Asp) | |
17 | g.41586567C>A | CA290665637 | KRT14 | c.268G>T (p.Gly90Cys) | dbSNP |
17 | g.41586567C= | CA2260086886 | KRT14 | c.268G= (p.Gly90=) | |
17 | g.41586567C>G | CA399482865 | KRT14 | c.268G>C (p.Gly90Arg) | |
17 | g.41586567C>T | CA399482864 | KRT14 | c.268G>A (p.Gly90Ser) | |
17 | g.41586568A= | CA2260086887 | KRT14 | c.267T= (p.Gly89=) | |
17 | g.41586568A>C | CA500205549 | KRT14 | c.267T>G (p.Gly89=) | |
17 | g.41586568A>G | CA500205550 | KRT14 | c.267T>C (p.Gly89=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41586568A>T | CA500205551 | KRT14 | c.267T>A (p.Gly89=) | |
17 | g.41586569C>A | CA399482867 | KRT14 | c.266G>T (p.Gly89Val) |