Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37739503_37739577del | CA913190793 | HNF1B | c.410_484del (p.Arg137_Lys161del) | ClinVar |
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=) | |
17 | g.37739556G>A | CA398751485 | HNF1B | c.428C>T (p.Thr143Ile) | |
17 | g.37739556G>C | CA398751482 | HNF1B | c.428C>G (p.Thr143Ser) | |
17 | g.37739556G>T | CA398751483 | HNF1B | c.428C>A (p.Thr143Asn) | |
17 | g.37739557T>A | CA398751487 | HNF1B | c.427A>T (p.Thr143Ser) | |
17 | g.37739557T>C | CA398751488 | HNF1B | c.427A>G (p.Thr143Ala) | |
17 | g.37739557T>G | CA398751490 | HNF1B | c.427A>C (p.Thr143Pro) | |
17 | g.37739558G>A | CA499603949 | HNF1B | c.426C>T (p.Val142=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.37739558G>C | CA499603950 | HNF1B | c.426C>G (p.Val142=) | |
17 | g.37739558G>T | CA499603951 | HNF1B | c.426C>A (p.Val142=) | |
17 | g.37739559A>C | CA398751493 | HNF1B | c.425T>G (p.Val142Gly) | |
17 | g.37739559A>G | CA398751494 | HNF1B | c.425T>C (p.Val142Ala) | |
17 | g.37739559A>T | CA398751495 | HNF1B | c.425T>A (p.Val142Asp) | |
17 | g.37739560C>A | CA398751497 | HNF1B | c.424G>T (p.Val142Phe) | |
17 | g.37739560C>G | CA398751499 | HNF1B | c.424G>C (p.Val142Leu) | |
17 | g.37739560C>T | CA398751502 | HNF1B | c.424G>A (p.Val142Ile) | |
17 | g.37739561A>C | CA398751504 | HNF1B | c.423T>G (p.Asp141Glu) | |
17 | g.37739561A>G | CA499603952 | HNF1B | c.423T>C (p.Asp141=) | dbSNP |
17 | g.37739561A>T | CA398751505 | HNF1B | c.423T>A (p.Asp141Glu) | |
17 | g.37739562T>A | CA398751508 | HNF1B | c.422A>T (p.Asp141Val) | |
17 | g.37739562T>C | CA398751507 | HNF1B | c.422A>G (p.Asp141Gly) | |
17 | g.37739562T>G | CA398751506 | HNF1B | c.422A>C (p.Asp141Ala) | |
17 | g.37739563C>A | CA398751510 | HNF1B | c.421G>T (p.Asp141Tyr) | |
17 | g.37739563C>G | CA398751512 | HNF1B | c.421G>C (p.Asp141His) | |
17 | g.37739563C>T | CA290288699 | HNF1B | c.421G>A (p.Asp141Asn) | dbSNP gnomAD v4 |
17 | g.37739564G>A | CA8519077 | HNF1B | c.420C>T (p.Val140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37739564G>C | CA499603953 | HNF1B | c.420C>G (p.Val140=) | |
17 | g.37739564G>T | CA499603954 | HNF1B | c.420C>A (p.Val140=) | |
17 | g.37739565A>C | CA398751514 | HNF1B | c.419T>G (p.Val140Gly) | |
17 | g.37739565A>G | CA398751515 | HNF1B | c.419T>C (p.Val140Ala) | |
17 | g.37739565A>T | CA398751516 | HNF1B | c.419T>A (p.Val140Asp) |