Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739503_37739577del | CA913190793 | HNF1B | c.410_484del (p.Arg137_Lys161del) | ClinVar |
17 | g.37739540C>A | CA499603936 | HNF1B | c.444G>T (p.Ser148=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739540C>G | CA499603937 | HNF1B | c.444G>C (p.Ser148=) | |
17 | g.37739540C>T | CA8519074 | HNF1B | c.444G>A (p.Ser148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739541G>A | CA398751429 | HNF1B | c.443C>T (p.Ser148Leu) | ClinVar gnomAD v4 |
17 | g.37739541G>C | CA122604 | HNF1B | c.443C>G (p.Ser148Trp) | ClinVar dbSNP |
17 | g.37739541G>T | CA398751431 | HNF1B | c.443C>A (p.Ser148Ter) | ClinVar |
17 | g.37739542A>C | CA398751434 | HNF1B | c.442T>G (p.Ser148Ala) | |
17 | g.37739542A>G | CA398751435 | HNF1B | c.442T>C (p.Ser148Pro) | |
17 | g.37739542A>T | CA398751437 | HNF1B | c.442T>A (p.Ser148Thr) | |
17 | g.37739543C>A | CA398751439 | HNF1B | c.441G>T (p.Gln147His) | |
17 | g.37739543C>G | CA398751440 | HNF1B | c.441G>C (p.Gln147His) | |
17 | g.37739543C>T | CA499603938 | HNF1B | c.441G>A (p.Gln147=) | dbSNP |
17 | g.37739544T>A | CA398751442 | HNF1B | c.440A>T (p.Gln147Leu) | |
17 | g.37739544T>C | CA398751443 | HNF1B | c.440A>G (p.Gln147Arg) | |
17 | g.37739544T>G | CA398751445 | HNF1B | c.440A>C (p.Gln147Pro) | |
17 | g.37739545G>A | CA398751446 | HNF1B | c.439C>T (p.Gln147Ter) | ClinVar |
17 | g.37739545G>C | CA398751448 | HNF1B | c.439C>G (p.Gln147Glu) | |
17 | g.37739545G>T | CA398751450 | HNF1B | c.439C>A (p.Gln147Lys) | |
17 | g.37739546G>A | CA499603939 | HNF1B | c.438C>T (p.Asn146=) | ClinVar dbSNP gnomAD v4 |
17 | g.37739546G>C | CA398751451 | HNF1B | c.438C>G (p.Asn146Lys) | |
17 | g.37739546G>T | CA398751453 | HNF1B | c.438C>A (p.Asn146Lys) | ClinVar |
17 | g.37739547T>A | CA398751458 | HNF1B | c.437A>T (p.Asn146Ile) | |
17 | g.37739547T>C | CA398751455 | HNF1B | c.437A>G (p.Asn146Ser) | |
17 | g.37739547T>G | CA398751457 | HNF1B | c.437A>C (p.Asn146Thr) | ClinVar |
17 | g.37739548T>A | CA398751460 | HNF1B | c.436A>T (p.Asn146Tyr) | |
17 | g.37739548T>C | CA398751462 | HNF1B | c.436A>G (p.Asn146Asp) | ClinVar |
17 | g.37739548T>G | CA398751464 | HNF1B | c.436A>C (p.Asn146His) | |
17 | g.37739549C>A | CA499603942 | HNF1B | c.435G>T (p.Leu145=) | |
17 | g.37739549C>G | CA499603940 | HNF1B | c.435G>C (p.Leu145=) | |
17 | g.37739549C>T | CA499603941 | HNF1B | c.435G>A (p.Leu145=) | |
17 | g.37739550del | CA2695225794 | HNF1B | c.434del (p.Leu145ArgfsTer16) | |
17 | g.37739550A>C | CA398751465 | HNF1B | c.434T>G (p.Leu145Arg) | |
17 | g.37739550A>G | CA398751466 | HNF1B | c.434T>C (p.Leu145Pro) | |
17 | g.37739550A>T | CA398751468 | HNF1B | c.434T>A (p.Leu145Gln) | ClinVar |
17 | g.37739551G>A | CA499603943 | HNF1B | c.433C>T (p.Leu145=) | |
17 | g.37739551G>C | CA398751470 | HNF1B | c.433C>G (p.Leu145Val) | |
17 | g.37739551G>T | CA398751471 | HNF1B | c.433C>A (p.Leu145Met) | |
17 | g.37739552G>A | CA499603946 | HNF1B | c.432C>T (p.Gly144=) | dbSNP |
17 | g.37739552G>C | CA499603945 | HNF1B | c.432C>G (p.Gly144=) | |
17 | g.37739552G>T | CA499603944 | HNF1B | c.432C>A (p.Gly144=) | |
17 | g.37739553C>A | CA398751472 | HNF1B | c.431G>T (p.Gly144Val) | dbSNP |
17 | g.37739553C>G | CA398751474 | HNF1B | c.431G>C (p.Gly144Ala) | |
17 | g.37739553C>T | CA398751475 | HNF1B | c.431G>A (p.Gly144Asp) | |
17 | g.37739554C>A | CA398751480 | HNF1B | c.430G>T (p.Gly144Cys) | |
17 | g.37739554C>G | CA398751478 | HNF1B | c.430G>C (p.Gly144Arg) | |
17 | g.37739554C>T | CA8519075 | HNF1B | c.430G>A (p.Gly144Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739555G>A | CA8519076 | HNF1B | c.429C>T (p.Thr143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739555G>C | CA499603947 | HNF1B | c.429C>G (p.Thr143=) | |
17 | g.37739555G>T | CA499603948 | HNF1B | c.429C>A (p.Thr143=) |