Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41586722_41586776delinsCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGA | CA2260086996 | KRT14 | c.59_113delinsTCGGGGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTGGCCGGAGG (p.Ile20=) | |
17 | g.41586723_41586776del | CA626215433 | KRT14 | c.59_112del (p.Ile20_Gly38delinsArg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41586753A= | CA2260087015 | KRT14 | c.82T= (p.Ser28=) | |
17 | g.41586753A>C | CA399483638 | KRT14 | c.82T>G (p.Ser28Ala) | |
17 | g.41586753A>G | CA290665666 | KRT14 | c.82T>C (p.Ser28Pro) | dbSNP gnomAD v4 |
17 | g.41586753A>T | CA399483639 | KRT14 | c.82T>A (p.Ser28Thr) | |
17 | g.41586753_41586765delinsAGCCGCCCCCGAT | CA2260087016 | KRT14 | c.70_82delinsATCGGGGGCGGCT (p.Ile24=) | |
17 | g.41586754G>A | CA500205828 | KRT14 | c.81C>T (p.Gly27=) | |
17 | g.41586754G>C | CA500205829 | KRT14 | c.81C>G (p.Gly27=) | |
17 | g.41586754G>T | CA500205830 | KRT14 | c.81C>A (p.Gly27=) | |
17 | g.41586771_41586782dup | CA8562826 | KRT14 | c.70_81dup (p.Gly27_Ser28insIleGlyGlyGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586771_41586782del | CA8562825 | KRT14 | c.70_81del (p.Ile24_Gly27del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586755C>A | CA399483641 | KRT14 | c.80G>T (p.Gly27Val) | |
17 | g.41586755C= | CA2260087017 | KRT14 | c.80G= (p.Gly27=) | |
17 | g.41586755C>G | CA399483640 | KRT14 | c.80G>C (p.Gly27Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586755C>T | CA399483642 | KRT14 | c.80G>A (p.Gly27Asp) | gnomAD v4 |
17 | g.41586756C>A | CA399483643 | KRT14 | c.79G>T (p.Gly27Cys) | |
17 | g.41586756C= | CA2260087018 | KRT14 | c.79G= (p.Gly27=) | |
17 | g.41586756C>G | CA399483644 | KRT14 | c.79G>C (p.Gly27Arg) | |
17 | g.41586756C>T | CA8562827 | KRT14 | c.79G>A (p.Gly27Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586757G>A | CA8562828 | KRT14 | c.78C>T (p.Gly26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586757G>C | CA500205831 | KRT14 | c.78C>G (p.Gly26=) | |
17 | g.41586757G= | CA2260087019 | KRT14 | c.78C= (p.Gly26=) | |
17 | g.41586757G>T | CA500205832 | KRT14 | c.78C>A (p.Gly26=) | |
17 | g.41586757_41586758delinsGC | CA2260087020 | KRT14 | c.77_78delinsGC (p.Gly26=) | |
17 | g.41586758C>A | CA399483645 | KRT14 | c.77G>T (p.Gly26Val) | |
17 | g.41586758C>G | CA399483646 | KRT14 | c.77G>C (p.Gly26Ala) | |
17 | g.41586758C>T | CA399483648 | KRT14 | c.77G>A (p.Gly26Asp) | |
17 | g.41586762dup | CA2809495499 | KRT14 | c.77dup (p.Gly27ArgfsTer?) | |
17 | g.41586762del | CA772041229 | KRT14 | c.77del (p.Gly26AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41586759C>A | CA399483651 | KRT14 | c.76G>T (p.Gly26Cys) | |
17 | g.41586759C>G | CA399483653 | KRT14 | c.76G>C (p.Gly26Arg) | |
17 | g.41586759C>T | CA399483655 | KRT14 | c.76G>A (p.Gly26Ser) | gnomAD v4 |
17 | g.41586760C>A | CA500205833 | KRT14 | c.75G>T (p.Gly25=) | |
17 | g.41586760C>G | CA500205834 | KRT14 | c.75G>C (p.Gly25=) | gnomAD v4 |
17 | g.41586760C>T | CA500205835 | KRT14 | c.75G>A (p.Gly25=) | |
17 | g.41586761C>A | CA399483663 | KRT14 | c.74G>T (p.Gly25Val) | gnomAD v4 |
17 | g.41586761C= | CA2260087021 | KRT14 | c.74G= (p.Gly25=) | |
17 | g.41586761C>G | CA399483661 | KRT14 | c.74G>C (p.Gly25Ala) | |
17 | g.41586761C>T | CA399483659 | KRT14 | c.74G>A (p.Gly25Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41586762C>A | CA399483666 | KRT14 | c.73G>T (p.Gly25Trp) | gnomAD v4 |
17 | g.41586762C= | CA2260087023 | KRT14 | c.73G= (p.Gly25=) | |
17 | g.41586762C>G | CA399483668 | KRT14 | c.73G>C (p.Gly25Arg) | gnomAD v4 |
17 | g.41586762C>T | CA8562829 | KRT14 | c.73G>A (p.Gly25Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586762_41586763delinsCG | CA2260087022 | KRT14 | c.72_73delinsCG (p.Ile24=) | |
17 | g.41586763del | CA772041234 | KRT14 | c.72del (p.Ile24MetfsTer?) | dbSNP |
17 | g.41586763G>A | CA500205836 | KRT14 | c.72C>T (p.Ile24=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41586763G>C | CA399483672 | KRT14 | c.72C>G (p.Ile24Met) | |
17 | g.41586763G= | CA2260087024 | KRT14 | c.72C= (p.Ile24=) | |
17 | g.41586763G>T | CA500205837 | KRT14 | c.72C>A (p.Ile24=) |