Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.37739599T>A | CA398751651 | HNF1B | c.385A>T (p.Met129Leu) | |
17 | g.37739599T>C | CA398751654 | HNF1B | c.385A>G (p.Met129Val) | |
17 | g.37739599T>G | CA398751653 | HNF1B | c.385A>C (p.Met129Leu) | |
17 | g.37739600G>A | CA499603971 | HNF1B | c.384C>T (p.Tyr128=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739600G>C | CA398751656 | HNF1B | c.384C>G (p.Tyr128Ter) | |
17 | g.37739600G>T | CA398751658 | HNF1B | c.384C>A (p.Tyr128Ter) | |
17 | g.37739601T>A | CA398751659 | HNF1B | c.383A>T (p.Tyr128Phe) | dbSNP |
17 | g.37739601T>C | CA398751660 | HNF1B | c.383A>G (p.Tyr128Cys) | |
17 | g.37739601T>G | CA398751661 | HNF1B | c.383A>C (p.Tyr128Ser) | |
17 | g.37739602A>C | CA398751663 | HNF1B | c.382T>G (p.Tyr128Asp) | |
17 | g.37739602A>G | CA398751664 | HNF1B | c.382T>C (p.Tyr128His) | |
17 | g.37739602A>T | CA398751665 | HNF1B | c.382T>A (p.Tyr128Asn) | |
17 | g.37739603dup | CA983445274 | HNF1B | c.382dup (p.Tyr128LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.37739603A>C | CA499603973 | HNF1B | c.381T>G (p.Gly127=) | |
17 | g.37739603A>G | CA8519078 | HNF1B | c.381T>C (p.Gly127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |