Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739583A>C | CA398751585 | HNF1B | c.401T>G (p.Ile134Ser) | |
17 | g.37739583A>G | CA398751582 | HNF1B | c.401T>C (p.Ile134Thr) | |
17 | g.37739583A>T | CA398751583 | HNF1B | c.401T>A (p.Ile134Asn) | ClinVar dbSNP |
17 | g.37739584T>A | CA398751587 | HNF1B | c.400A>T (p.Ile134Phe) | |
17 | g.37739584T>C | CA398751589 | HNF1B | c.400A>G (p.Ile134Val) | |
17 | g.37739584T>G | CA398751590 | HNF1B | c.400A>C (p.Ile134Leu) | |
17 | g.37739585G>A | CA499603967 | HNF1B | c.399C>T (p.Asn133=) | dbSNP |
17 | g.37739585G>C | CA398751591 | HNF1B | c.399C>G (p.Asn133Lys) | |
17 | g.37739585G>T | CA398751593 | HNF1B | c.399C>A (p.Asn133Lys) | |
17 | g.37739586T>A | CA398751595 | HNF1B | c.398A>T (p.Asn133Ile) | |
17 | g.37739586T>C | CA398751597 | HNF1B | c.398A>G (p.Asn133Ser) | ClinVar |
17 | g.37739586T>G | CA398751598 | HNF1B | c.398A>C (p.Asn133Thr) | |
17 | g.37739587T>A | CA398751600 | HNF1B | c.397A>T (p.Asn133Tyr) | |
17 | g.37739587T>C | CA398751601 | HNF1B | c.397A>G (p.Asn133Asp) | |
17 | g.37739587T>G | CA398751603 | HNF1B | c.397A>C (p.Asn133His) | |
17 | g.37739588G>A | CA499603968 | HNF1B | c.396C>T (p.His132=) | |
17 | g.37739588G>C | CA398751604 | HNF1B | c.396C>G (p.His132Gln) | dbSNP |
17 | g.37739588G>T | CA398751606 | HNF1B | c.396C>A (p.His132Gln) | |
17 | g.37739589T>A | CA398751607 | HNF1B | c.395A>T (p.His132Leu) | |
17 | g.37739589T>C | CA398751609 | HNF1B | c.395A>G (p.His132Arg) | ClinVar |
17 | g.37739589T>G | CA398751611 | HNF1B | c.395A>C (p.His132Pro) | ClinVar |
17 | g.37739591_37739596del | CA2695225795 | HNF1B | c.390_395del (p.Gln130_Gln131del) | |
17 | g.37739590G>A | CA398751612 | HNF1B | c.394C>T (p.His132Tyr) | gnomAD v4 |
17 | g.37739590G>C | CA398751613 | HNF1B | c.394C>G (p.His132Asp) | |
17 | g.37739590G>T | CA398751615 | HNF1B | c.394C>A (p.His132Asn) | |
17 | g.37739591T>A | CA398751616 | HNF1B | c.393A>T (p.Gln131His) | |
17 | g.37739591T>C | CA499603969 | HNF1B | c.393A>G (p.Gln131=) | |
17 | g.37739591T>G | CA398751617 | HNF1B | c.393A>C (p.Gln131His) | |
17 | g.37739592T>A | CA398751619 | HNF1B | c.392A>T (p.Gln131Leu) | |
17 | g.37739592T>C | CA398751620 | HNF1B | c.392A>G (p.Gln131Arg) | |
17 | g.37739592T>G | CA398751622 | HNF1B | c.392A>C (p.Gln131Pro) | |
17 | g.37739594_37739600del | CA913190796 | HNF1B | c.386_392del (p.Met129AsnfsTer15) | ClinVar |
17 | g.37739593G>A | CA398751625 | HNF1B | c.391C>T (p.Gln131Ter) | ClinVar |
17 | g.37739593G>C | CA398751626 | HNF1B | c.391C>G (p.Gln131Glu) | |
17 | g.37739593G>T | CA398751624 | HNF1B | c.391C>A (p.Gln131Lys) | |
17 | g.37739594C>A | CA398751628 | HNF1B | c.390G>T (p.Gln130His) | |
17 | g.37739594C>G | CA398751629 | HNF1B | c.390G>C (p.Gln130His) | |
17 | g.37739594C>T | CA499603970 | HNF1B | c.390G>A (p.Gln130=) | |
17 | g.37739595T>A | CA398751632 | HNF1B | c.389A>T (p.Gln130Leu) | |
17 | g.37739595T>C | CA398751633 | HNF1B | c.389A>G (p.Gln130Arg) | |
17 | g.37739595T>G | CA398751634 | HNF1B | c.389A>C (p.Gln130Pro) | |
17 | g.37739596G>A | CA398751640 | HNF1B | c.388C>T (p.Gln130Ter) | |
17 | g.37739596G>C | CA398751638 | HNF1B | c.388C>G (p.Gln130Glu) | |
17 | g.37739596G>T | CA398751636 | HNF1B | c.388C>A (p.Gln130Lys) | |
17 | g.37739597C>A | CA398751641 | HNF1B | c.387G>T (p.Met129Ile) | |
17 | g.37739597C>G | CA398751643 | HNF1B | c.387G>C (p.Met129Ile) | gnomAD v4 |
17 | g.37739597C>T | CA398751645 | HNF1B | c.387G>A (p.Met129Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739598A>C | CA398751647 | HNF1B | c.386T>G (p.Met129Arg) | |
17 | g.37739598A>G | CA398751648 | HNF1B | c.386T>C (p.Met129Thr) | |
17 | g.37739598A>T | CA398751649 | HNF1B | c.386T>A (p.Met129Lys) |