Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202462494_202466873del | CA915941493 | BMPR2 | c.77-2315_248-646del | ClinVar |
2 | g.202464735del | CA2662703704 | BMPR2 | c.77-74del (n.77-74del) | gnomAD v4 |
2 | g.202464735G>A | CA2662703707 | BMPR2 | c.77-74G>A (n.77-74G>A) | gnomAD v4 |
2 | g.202464735G>C | CA2662703709 | BMPR2 | c.77-74G>C (n.77-74G>C) | gnomAD v4 |
2 | g.202464735G>T | CA2662703708 | BMPR2 | c.77-74G>T (n.77-74G>T) | gnomAD v4 |
2 | g.202464736A>G | CA2662703711 | BMPR2 | c.77-73A>G (n.77-73A>G) | gnomAD v4 |
2 | g.202464736A>T | CA2662703712 | BMPR2 | c.77-73A>T (n.77-73A>T) | gnomAD v4 |
2 | g.202464739del | CA2662703713 | BMPR2 | c.77-70del (n.77-70del) | gnomAD v4 |
2 | g.202464739A= | CA1321507323 | BMPR2 | c.77-70A= (n.77-70A=) | |
2 | g.202464739A>T | CA763417563 | BMPR2 | c.77-70A>T (n.77-70A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464740G>A | CA1321507327 | BMPR2 | c.77-69G>A (n.77-69G>A) | dbSNP |
2 | g.202464740G= | CA1321507326 | BMPR2 | c.77-69G= (n.77-69G=) | |
2 | g.202464740G>T | CA2662703716 | BMPR2 | c.77-69G>T (n.77-69G>T) | gnomAD v4 |
2 | g.202464740_202464742delinsGAC | CA1321507324 | BMPR2 | c.77-69_77-67delinsGAC (n.77-69_77-67delinsGAC) | |
2 | g.202464742_202464743del | CA763417564 | BMPR2 | c.77-67_77-66del (n.77-67_77-66del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464742C>A | CA2577215489 | BMPR2 | c.77-67C>A (n.77-67C>A) | gnomAD v4 |
2 | g.202464742_202464744delinsCAA | CA1321507335 | BMPR2 | c.77-67_77-65delinsCAA (n.77-67_77-65delinsCAA) | |
2 | g.202464745dup | CA2662703723 | BMPR2 | c.77-64dup (n.77-64dup) | gnomAD v4 |
2 | g.202464744_202464745del | CA763417565 | BMPR2 | c.77-65_77-64del (n.77-65_77-64del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464745A= | CA1321507340 | BMPR2 | c.77-64A= (n.77-64A=) | |
2 | g.202464745A>C | CA763417570 | BMPR2 | c.77-64A>C (n.77-64A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464746G>A | CA763417578 | BMPR2 | c.77-63G>A (n.77-63G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464746G= | CA1321507344 | BMPR2 | c.77-63G= (n.77-63G=) | |
2 | g.202464746G>T | CA763417582 | BMPR2 | c.77-63G>T (n.77-63G>T) | dbSNP gnomAD v4 |
2 | g.202464746_202464749del | CA2569531243 | BMPR2 | c.77-63_77-60del (n.77-63_77-60del) | |
2 | g.202464747A>G | CA2577215490 | BMPR2 | c.77-62A>G (n.77-62A>G) | |
2 | g.202464749T>A | CA2577215491 | BMPR2 | c.77-60T>A (n.77-60T>A) | |
2 | g.202464750T>A | CA763417585 | BMPR2 | c.77-59T>A (n.77-59T>A) | dbSNP |
2 | g.202464750T= | CA1321507348 | BMPR2 | c.77-59T= (n.77-59T=) | |
2 | g.202464751T>C | CA64532176 | BMPR2 | c.77-58T>C (n.77-58T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464751T= | CA1321507350 | BMPR2 | c.77-58T= (n.77-58T=) | |
2 | g.202464752A>G | CA2662703726 | BMPR2 | c.77-57A>G (n.77-57A>G) | gnomAD v4 |
2 | g.202464752A>T | CA2662703728 | BMPR2 | c.77-57A>T (n.77-57A>T) | gnomAD v4 |
2 | g.202464753_202464756delinsTATA | CA1321507353 | BMPR2 | c.77-56_77-53delinsTATA (n.77-56_77-53delinsTATA) | |
2 | g.202464754A= | CA1321507354 | BMPR2 | c.77-55A= (n.77-55A=) | |
2 | g.202464754A>G | CA1321507355 | BMPR2 | c.77-55A>G (n.77-55A>G) | dbSNP gnomAD v4 |
2 | g.202464754A>T | CA2577215492 | BMPR2 | c.77-55A>T (n.77-55A>T) | |
2 | g.202464757_202464759del | CA1321507357 | BMPR2 | c.77-52_77-50del (n.77-52_77-50del) | dbSNP gnomAD v4 |
2 | g.202464755T>G | CA1041292669 | BMPR2 | c.77-54T>G (n.77-54T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464755T= | CA1321507358 | BMPR2 | c.77-54T= (n.77-54T=) | |
2 | g.202464756A>G | CA2577215493 | BMPR2 | c.77-53A>G (n.77-53A>G) | |
2 | g.202464757A= | CA1321507360 | BMPR2 | c.77-52A= (n.77-52A=) | |
2 | g.202464757A>C | CA64532177 | BMPR2 | c.77-52A>C (n.77-52A>C) | dbSNP |
2 | g.202464757A>G | CA64532178 | BMPR2 | c.77-52A>G (n.77-52A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464759A>G | CA2577215494 | BMPR2 | c.77-50A>G (n.77-50A>G) | |
2 | g.202464764G>A | CA2701472376 | BMPR2 | c.77-45G>A (n.77-45G>A) | dbSNP |
2 | g.202464764G>C | CA2577215495 | BMPR2 | c.77-45G>C (n.77-45G>C) | |
2 | g.202464764G>T | CA2662703733 | BMPR2 | c.77-45G>T (n.77-45G>T) | gnomAD v4 |
2 | g.202464765A= | CA1321507363 | BMPR2 | c.77-44A= (n.77-44A=) |