Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202369396_202377723del | CA1139657640 | ClinVar | ||
2 | g.202373247_202381017del | CA915942366 | ClinVar | ||
2 | g.202377551G>A | CA350396807 | BMPR2 | c.76+1G>A (n.76+1G>A) | ClinVar dbSNP |
2 | g.202377551G>C | CA350396809 | BMPR2 | c.76+1G>C (n.76+1G>C) | |
2 | g.202377551G= | CA1321474708 | BMPR2 | c.76+1G= (n.76+1G=) | |
2 | g.202377551G>T | CA350396811 | BMPR2 | c.76+1G>T (n.76+1G>T) | ClinVar dbSNP |
2 | g.202377551_202377552insGAGGC | CA2061013 | BMPR2 | c.76+1_76+2insGAGGC (n.76+1_76+2insGAGGC) | dbSNP ExAC |
2 | g.202377552T>A | CA350396815 | BMPR2 | c.76+2T>A (n.76+2T>A) | ClinVar |
2 | g.202377552T>C | CA350396817 | BMPR2 | c.76+2T>C (n.76+2T>C) | ClinVar dbSNP |
2 | g.202377552T>G | CA350396819 | BMPR2 | c.76+2T>G (n.76+2T>G) | ClinVar dbSNP |
2 | g.202377552T= | CA1321474709 | BMPR2 | c.76+2T= (n.76+2T=) | |
2 | g.202377552_202377553insTTCCTCCGA | CA2061014 | BMPR2 | c.76+2_76+3insTTCCTCCGA (n.76+2_76+3insTTCCTCCGA) | dbSNP ExAC |
2 | g.202377553G>A | CA539001106 | BMPR2 | c.76+3G>A (n.76+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377553G= | CA1321474710 | BMPR2 | c.76+3G= (n.76+3G=) | |
2 | g.202377555G>A | CA645293859 | BMPR2 | c.76+5G>A (n.76+5G>A) | ClinVar dbSNP |
2 | g.202377555G= | CA1321474711 | BMPR2 | c.76+5G= (n.76+5G=) | |
2 | g.202377555G>T | CA2586970996 | BMPR2 | c.76+5G>T (n.76+5G>T) | |
2 | g.202377557A>C | CA2662703810 | BMPR2 | c.76+7A>C (n.76+7A>C) | gnomAD v4 |
2 | g.202377557A>G | CA2662703811 | BMPR2 | c.76+7A>G (n.76+7A>G) | gnomAD v4 |
2 | g.202377558G>C | CA2061015 | BMPR2 | c.76+8G>C (n.76+8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377558G= | CA1321474712 | BMPR2 | c.76+8G= (n.76+8G=) | |
2 | g.202377558G>T | CA430893211 | BMPR2 | c.76+8G>T (n.76+8G>T) | |
2 | g.202377561C>A | CA2577215463 | BMPR2 | c.76+11C>A (n.76+11C>A) | |
2 | g.202377563G>A | CA1041327540 | BMPR2 | c.76+13G>A (n.76+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377563G= | CA1321474713 | BMPR2 | c.76+13G= (n.76+13G=) | |
2 | g.202377563G>T | CA2662703813 | BMPR2 | c.76+13G>T (n.76+13G>T) | gnomAD v4 |
2 | g.202377564dup | CA2662703812 | BMPR2 | c.76+14dup (n.76+14dup) | gnomAD v4 |
2 | g.202377564G>A | CA2753901601 | BMPR2 | c.76+14G>A (n.76+14G>A) | |
2 | g.202377565C= | CA1321474714 | BMPR2 | c.76+15C= (n.76+15C=) | |
2 | g.202377565C>G | CA1321474715 | BMPR2 | c.76+15C>G (n.76+15C>G) | dbSNP |
2 | g.202377565C>T | CA763419102 | BMPR2 | c.76+15C>T (n.76+15C>T) | dbSNP gnomAD v4 |
2 | g.202377566del | CA2662703814 | BMPR2 | c.76+16del (n.76+16del) | gnomAD v4 |
2 | g.202377566C>T | CA2662703816 | BMPR2 | c.76+16C>T (n.76+16C>T) | gnomAD v4 |
2 | g.202377567G>A | CA539001107 | BMPR2 | c.76+17G>A (n.76+17G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377567G>C | CA1041327542 | BMPR2 | c.76+17G>C (n.76+17G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377567G= | CA1321474716 | BMPR2 | c.76+17G= (n.76+17G=) | |
2 | g.202377567G>T | CA2662703817 | BMPR2 | c.76+17G>T (n.76+17G>T) | gnomAD v4 |
2 | g.202377568G>A | CA539001108 | BMPR2 | c.76+18G>A (n.76+18G>A) | dbSNP gnomAD v2 |
2 | g.202377568G= | CA1321474717 | BMPR2 | c.76+18G= (n.76+18G=) | |
2 | g.202377569C= | CA1321474718 | BMPR2 | c.76+19C= (n.76+19C=) | |
2 | g.202377569C>G | CA2577215464 | BMPR2 | c.76+19C>G (n.76+19C>G) | gnomAD v4 |
2 | g.202377569C>T | CA2061016 | BMPR2 | c.76+19C>T (n.76+19C>T) | dbSNP ExAC gnomAD v2 |
2 | g.202377570A>G | CA2662703822 | BMPR2 | c.76+20A>G (n.76+20A>G) | gnomAD v4 |
2 | g.202377571C>A | CA539001109 | BMPR2 | c.76+21C>A (n.76+21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377571C= | CA1321474719 | BMPR2 | c.76+21C= (n.76+21C=) | |
2 | g.202377571C>G | CA2061017 | BMPR2 | c.76+21C>G (n.76+21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377571C>T | CA2662703824 | BMPR2 | c.76+21C>T (n.76+21C>T) | gnomAD v4 |
2 | g.202377572G>A | CA2662703828 | BMPR2 | c.76+22G>A (n.76+22G>A) | gnomAD v4 |
2 | g.202377572G= | CA1321474720 | BMPR2 | c.76+22G= (n.76+22G=) | |
2 | g.202377572G>T | CA1321474721 | BMPR2 | c.76+22G>T (n.76+22G>T) | dbSNP gnomAD v4 |