Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3084543A>C | CA2651675141 | AVP | c.120+12T>G (n.120+12T>G) | gnomAD v4 |
20 | g.3084545T>C | CA2651675142 | AVP | c.120+10A>G (n.120+10A>G) | gnomAD v4 |
20 | g.3084550A= | CA2346406154 | AVP | c.120+5T= (n.120+5T=) | |
20 | g.3084550A>G | CA743331455 | AVP | c.120+5T>C (n.120+5T>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3084551G>A | CA2651675143 | AVP | c.120+4C>T (n.120+4C>T) | gnomAD v4 |
20 | g.3084552T>C | CA2651675144 | AVP | c.120+3A>G (n.120+3A>G) | gnomAD v4 |
20 | g.3084553A>C | CA408062364 | AVP | c.120+2T>G (n.120+2T>G) | |
20 | g.3084553A>G | CA408062366 | AVP | c.120+2T>C (n.120+2T>C) | gnomAD v4 |
20 | g.3084553A>T | CA408062368 | AVP | c.120+2T>A (n.120+2T>A) | |
20 | g.3084554C>A | CA408062371 | AVP | c.120+1G>T (n.120+1G>T) | |
20 | g.3084554C= | CA2346406155 | AVP | c.120+1G= (n.120+1G=) | |
20 | g.3084554C>G | CA408062373 | AVP | c.120+1G>C (n.120+1G>C) | |
20 | g.3084554C>T | CA9739485 | AVP | c.120+1G>A (n.120+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3084555C>A | CA408062376 | AVP | c.120G>T (p.Gln40His) | |
20 | g.3084555C>G | CA408062378 | AVP | c.120G>C (p.Gln40His) | |
20 | g.3084555C>T | CA509404636 | AVP | c.120G>A (p.Gln40=) | |
20 | g.3084556T>A | CA408062380 | AVP | c.119A>T (p.Gln40Leu) | |
20 | g.3084556T>C | CA408062383 | AVP | c.119A>G (p.Gln40Arg) | |
20 | g.3084556T>G | CA408062386 | AVP | c.119A>C (p.Gln40Pro) | |
20 | g.3084557G>A | CA408062388 | AVP | c.118C>T (p.Gln40Ter) | |
20 | g.3084557G>C | CA9739486 | AVP | c.118C>G (p.Gln40Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3084557G= | CA2346406156 | AVP | c.118C= (p.Gln40=) | |
20 | g.3084557G>T | CA408062391 | AVP | c.118C>A (p.Gln40Lys) | |
20 | g.3084558T>A | CA408062397 | AVP | c.117A>T (p.Arg39Ser) | |
20 | g.3084558T>C | CA509404638 | AVP | c.117A>G (p.Arg39=) | |
20 | g.3084558T>G | CA408062398 | AVP | c.117A>C (p.Arg39Ser) | |
20 | g.3084559C>A | CA408062401 | AVP | c.116G>T (p.Arg39Ile) | |
20 | g.3084559C>G | CA408062403 | AVP | c.116G>C (p.Arg39Thr) | |
20 | g.3084559C>T | CA408062404 | AVP | c.116G>A (p.Arg39Lys) | |
20 | g.3084560T>A | CA408062408 | AVP | c.115A>T (p.Arg39Ter) | |
20 | g.3084560T>C | CA408062420 | AVP | c.115A>G (p.Arg39Gly) | |
20 | g.3084560T>G | CA509404640 | AVP | c.115A>C (p.Arg39=) | |
20 | g.3084561C>A | CA509404641 | AVP | c.114G>T (p.Leu38=) | |
20 | g.3084561C= | CA2346406157 | AVP | c.114G= (p.Leu38=) | |
20 | g.3084561C>G | CA509404642 | AVP | c.114G>C (p.Leu38=) | |
20 | g.3084561C>T | CA509404643 | AVP | c.114G>A (p.Leu38=) | dbSNP |
20 | g.3084562A= | CA2346406158 | AVP | c.113T= (p.Leu38=) | |
20 | g.3084562A>C | CA408062422 | AVP | c.113T>G (p.Leu38Arg) | |
20 | g.3084562A>G | CA408062424 | AVP | c.113T>C (p.Leu38Pro) | |
20 | g.3084562A>T | CA408062432 | AVP | c.113T>A (p.Leu38Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3084563G>A | CA509404644 | AVP | c.112C>T (p.Leu38=) | |
20 | g.3084563G>C | CA408062434 | AVP | c.112C>G (p.Leu38Val) | |
20 | g.3084563G>T | CA408062436 | AVP | c.112C>A (p.Leu38Met) | |
20 | g.3084564C>A | CA408062440 | AVP | c.111G>T (p.Glu37Asp) | |
20 | g.3084564C= | CA2346406159 | AVP | c.111G= (p.Glu37=) | |
20 | g.3084564C>G | CA408062443 | AVP | c.111G>C (p.Glu37Asp) | |
20 | g.3084564C>T | CA9739487 | AVP | c.111G>A (p.Glu37=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3084565T>A | CA408062446 | AVP | c.110A>T (p.Glu37Val) | |
20 | g.3084565T>C | CA408062458 | AVP | c.110A>G (p.Glu37Gly) | |
20 | g.3084565T>G | CA408062447 | AVP | c.110A>C (p.Glu37Ala) |