Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37744539_37744542del | CA913185927 | HNF1B | c.344+2_344+5del | ClinVar |
17 | g.37744541C>A | CA398752885 | HNF1B | c.344G>T (p.Ser115Ile) | gnomAD v4 |
17 | g.37744541C>G | CA398752889 | HNF1B | c.344G>C (p.Ser115Thr) | |
17 | g.37744541C>T | CA214357 | HNF1B | c.344G>A (p.Ser115Asn) | ClinVar dbSNP |
17 | g.37744542T>A | CA398752891 | HNF1B | c.343A>T (p.Ser115Cys) | |
17 | g.37744542T>C | CA398752894 | HNF1B | c.343A>G (p.Ser115Gly) | gnomAD v4 |
17 | g.37744542T>G | CA398752896 | HNF1B | c.343A>C (p.Ser115Arg) | |
17 | g.37744542_37744544dup | CA2637449433 | HNF1B | c.341_343dup (p.Leu114_Ser115insIle) | gnomAD v4 |
17 | g.37744543G>A | CA499879979 | HNF1B | c.342C>T (p.Leu114=) | |
17 | g.37744543G>C | CA499879980 | HNF1B | c.342C>G (p.Leu114=) | |
17 | g.37744543G>T | CA499879981 | HNF1B | c.342C>A (p.Leu114=) | |
17 | g.37744544_37744551del | CA913190798 | HNF1B | c.335_342del (p.Arg112GlnfsTer2) | ClinVar |
17 | g.37744544A>C | CA398752899 | HNF1B | c.341T>G (p.Leu114Arg) | |
17 | g.37744544A>G | CA398752900 | HNF1B | c.341T>C (p.Leu114Pro) | |
17 | g.37744544A>T | CA398752903 | HNF1B | c.341T>A (p.Leu114His) | |
17 | g.37744545G>A | CA398752907 | HNF1B | c.340C>T (p.Leu114Phe) | |
17 | g.37744545G>C | CA398752909 | HNF1B | c.340C>G (p.Leu114Val) | |
17 | g.37744545G>T | CA398752911 | HNF1B | c.340C>A (p.Leu114Ile) | gnomAD v4 |
17 | g.37744547_37744563del | CA913190799 | HNF1B | c.324_340del (p.Glu109GlnfsTer2) | ClinVar dbSNP |
17 | g.37744546C>A | CA398752916 | HNF1B | c.339G>T (p.Met113Ile) | gnomAD v4 |
17 | g.37744546C>G | CA398752917 | HNF1B | c.339G>C (p.Met113Ile) | |
17 | g.37744546C>T | CA8519113 | HNF1B | c.339G>A (p.Met113Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.37744547A>C | CA398752928 | HNF1B | c.338T>G (p.Met113Arg) | |
17 | g.37744547A>G | CA398752925 | HNF1B | c.338T>C (p.Met113Thr) | |
17 | g.37744547A>T | CA398752927 | HNF1B | c.338T>A (p.Met113Lys) | |
17 | g.37744548T>A | CA398752930 | HNF1B | c.337A>T (p.Met113Leu) | |
17 | g.37744548T>C | CA398752932 | HNF1B | c.337A>G (p.Met113Val) | |
17 | g.37744548T>G | CA398752933 | HNF1B | c.337A>C (p.Met113Leu) | gnomAD v4 |
17 | g.37744549C>A | CA499879982 | HNF1B | c.336G>T (p.Arg112=) | ClinVar dbSNP |
17 | g.37744549C>G | CA499879983 | HNF1B | c.336G>C (p.Arg112=) | gnomAD v4 |
17 | g.37744549C>T | CA499879984 | HNF1B | c.336G>A (p.Arg112=) | dbSNP |
17 | g.37744550C>A | CA398752934 | HNF1B | c.335G>T (p.Arg112Leu) | |
17 | g.37744550C>G | CA398752937 | HNF1B | c.335G>C (p.Arg112Pro) | ClinVar |
17 | g.37744550C>T | CA290293031 | HNF1B | c.335G>A (p.Arg112Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37744551G>A | CA398752940 | HNF1B | c.334C>T (p.Arg112Trp) | gnomAD v4 |
17 | g.37744551G>C | CA398752942 | HNF1B | c.334C>G (p.Arg112Gly) | |
17 | g.37744551G>T | CA499879985 | HNF1B | c.334C>A (p.Arg112=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37744552G>A | CA499879986 | HNF1B | c.333C>T (p.Asp111=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37744552G>C | CA398752946 | HNF1B | c.333C>G (p.Asp111Glu) | |
17 | g.37744552G>T | CA398752952 | HNF1B | c.333C>A (p.Asp111Glu) | gnomAD v4 |
17 | g.37744553T>A | CA398752973 | HNF1B | c.332A>T (p.Asp111Val) | |
17 | g.37744553T>C | CA398752970 | HNF1B | c.332A>G (p.Asp111Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.37744553T>G | CA398752968 | HNF1B | c.332A>C (p.Asp111Ala) | |
17 | g.37744554C>A | CA398752976 | HNF1B | c.331G>T (p.Asp111Tyr) | |
17 | g.37744554C>G | CA398752977 | HNF1B | c.331G>C (p.Asp111His) | gnomAD v4 |
17 | g.37744554C>T | CA398752979 | HNF1B | c.331G>A (p.Asp111Asn) | |
17 | g.37744555C>A | CA499879989 | HNF1B | c.330G>T (p.Val110=) | |
17 | g.37744555C>G | CA499879987 | HNF1B | c.330G>C (p.Val110=) | |
17 | g.37744555C>T | CA499879988 | HNF1B | c.330G>A (p.Val110=) | |
17 | g.37744556A>C | CA290293036 | HNF1B | c.329T>G (p.Val110Gly) | ClinVar dbSNP |