12 | g.51920924_51921022del | CA2618860403 | ACVRL1 | c.*31_*129del (n.*31_*129del)
| gnomAD v4 |
12 | g.51920926_51920948del | CA2618860418 | ACVRL1 | c.*33_*55del (n.*33_*55del)
| gnomAD v4 |
12 | g.51920931_51920946del | CA2575161686 | ACVRL1 | c.*38_*53del (n.*38_*53del)
| gnomAD v4 |
12 | g.51920930_51920968del | CA2618860439 | ACVRL1 | c.*37_*75del (n.*37_*75del)
| gnomAD v4 |
12 | g.51920936_51921000del | CA2618860441 | ACVRL1 | c.*43_*107del (n.*43_*107del)
| gnomAD v4 |
12 | g.51920935_51920968del | CA2618860443 | ACVRL1 | c.*42_*75del (n.*42_*75del)
| gnomAD v4 |
12 | g.51920938_51920945del | CA6573185 | ACVRL1 | c.*45_*52del (n.*45_*52del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGTGGGGGG | CA2618860738 | ACVRL1 | c.*52_*53insGGGGGGGGGGGTGGGGGG (n.*52_*53insGGGGGGGGGGGTGGGGGG)
| gnomAD v4 |
12 | g.51920937_51920945dup | CA2618860741 | ACVRL1 | c.*44_*52dup (n.*44_*52dup)
| gnomAD v4 |
12 | g.51920936_51920945del | CA2618860694 | ACVRL1 | c.*43_*52del (n.*43_*52del)
| gnomAD v4 |
12 | g.51920939_51920945del | CA2618860814 | ACVRL1 | c.*46_*52del (n.*46_*52del)
| gnomAD v4 |
12 | g.51920936_51920951del | CA2618860822 | ACVRL1 | c.*43_*58del (n.*43_*58del)
| gnomAD v4 |
12 | g.51920938_51921000del | CA2618860823 | ACVRL1 | c.*45_*107del (n.*45_*107del)
| gnomAD v4 |
12 | g.51920939_51920943del | CA2618860828 | ACVRL1 | c.*46_*50del (n.*46_*50del)
| gnomAD v4 |
12 | g.51920936_51920957del | CA2618860827 | ACVRL1 | c.*43_*64del (n.*43_*64del)
| gnomAD v4 |
12 | g.51920940_51920969del | CA2618860832 | ACVRL1 | c.*47_*76del (n.*47_*76del)
| gnomAD v4 |
12 | g.51920942_51920951del | CA2618860852 | ACVRL1 | c.*49_*58del (n.*49_*58del)
| gnomAD v4 |
12 | g.51920939_51920946del | CA2618860862 | ACVRL1 | c.*46_*53del (n.*46_*53del)
| gnomAD v4 |
12 | g.51920943_51920944insTGGGGGGGGGGGG | CA2618860959 | ACVRL1 | c.*50_*51insTGGGGGGGGGGGG (n.*50_*51insTGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920943_51920944insTGGGGGGGGGGGGGGG | CA2618860961 | ACVRL1 | c.*50_*51insTGGGGGGGGGGGGGGG (n.*50_*51insTGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920943_51920944insTGGGGGGGGGGGGGGGG | CA2618860962 | ACVRL1 | c.*50_*51insTGGGGGGGGGGGGGGGG (n.*50_*51insTGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920943_51920944insCGGGGGGGGGGGGGGGGGGGGG | CA2618861068 | ACVRL1 | c.*50_*51insCGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insCGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920943_51920944insTTGGGGGGGGGGGGGGGGGGGGGG | CA2618860963 | ACVRL1 | c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920943_51920944insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860964 | ACVRL1 | c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920943_51920944insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2795983938 | ACVRL1 | c.*50_*51insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG)
| |
12 | g.51920944_51920945insTGTGGGGGGGGGGGGG | CA2618860951 | ACVRL1 | c.*51_*52insTGTGGGGGGGGGGGGG (n.*51_*52insTGTGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insTGGGGGGGGGGGGGGGGGGGGG | CA2618860953 | ACVRL1 | c.*51_*52insTGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insCGGGGGGGGGGGGGGGGGGGGG | CA2618861061 | ACVRL1 | c.*51_*52insCGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860955 | ACVRL1 | c.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insCGGCGGGGGGGGGGGGGGGGGGGG | CA2618861063 | ACVRL1 | c.*51_*52insCGGCGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCGGCGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insTTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860957 | ACVRL1 | c.*51_*52insTTGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTTGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insCCGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861064 | ACVRL1 | c.*51_*52insCCGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCCGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insCGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861059 | ACVRL1 | c.*51_*52insCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860958 | ACVRL1 | c.*51_*52insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860954 | ACVRL1 | c.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920944_51920945insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860952 | ACVRL1 | c.*51_*52insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGG | CA947669128 | ACVRL1 | c.*52_*53insGGGGGGG (n.*52_*53insGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGAGGGGGG | CA2795983949 | ACVRL1 | c.*52_*53insGAGGGGGG (n.*52_*53insGAGGGGGG)
| |
12 | g.51920945_51920946insGGGGGGGG | CA605053173 | ACVRL1 | c.*52_*53insGGGGGGGG (n.*52_*53insGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGG | CA2618860981 | ACVRL1 | c.*52_*53insTGGGGGGG (n.*52_*53insTGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGG | CA6573196 | ACVRL1 | c.*52_*53insGGGGGGGGG (n.*52_*53insGGGGGGGGG)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGTGGGGGGG | CA2618861056 | ACVRL1 | c.*52_*53insGTGGGGGGG (n.*52_*53insGTGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGG | CA605053178 | ACVRL1 | c.*52_*53insGGGGGGGGGG (n.*52_*53insGGGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGG | CA947669132 | ACVRL1 | c.*52_*53insGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGG | CA947669133 | ACVRL1 | c.*52_*53insGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGG | CA2618861132 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGG | CA2618861129 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGG | CA947669123 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGG | CA2618860980 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGG | CA947669124 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGG | CA2596578560 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTTGGGGGGGGGGGGGG | CA2618860967 | ACVRL1 | c.*52_*53insTTGGGGGGGGGGGGGG (n.*52_*53insTTGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGG | CA947669122 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGTGGGGGGGGGGGGGG | CA2618861093 | ACVRL1 | c.*52_*53insGGTGGGGGGGGGGGGGG (n.*52_*53insGGTGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGG | CA605053183 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGTGGGGGGGGGGGGGGG | CA2618861091 | ACVRL1 | c.*52_*53insGGTGGGGGGGGGGGGGGG (n.*52_*53insGGTGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGG | CA913722286 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGG | CA947669120 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGG | CA2596578562 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGCGGGGGGGGGGGGGGGGGGG | CA2618861040 | ACVRL1 | c.*52_*53insGGCGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGCGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGG | CA947669117 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGG | CA2618860979 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGG | CA2618860956 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGG | CA2596578561 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGG | CA947669115 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860976 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGG | CA947669110 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA947669109 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860975 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGCGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861048 | ACVRL1 | c.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA947669106 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860973 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861120 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGCGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861044 | ACVRL1 | c.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860966 | ACVRL1 | c.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861114 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861109 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861085 | ACVRL1 | c.*52_*53insGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860971 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861107 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861105 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860968 | ACVRL1 | c.*52_*53insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860970 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860969 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861099 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2795983937 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
| |
12 | g.51920945dup | CA947669126 | ACVRL1 | c.*52dup (n.*52dup)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920944_51920945dup | CA2618861079 | ACVRL1 | c.*51_*52dup (n.*51_*52dup)
| gnomAD v4 |
12 | g.51920943_51920945dup | CA2618861072 | ACVRL1 | c.*50_*52dup (n.*50_*52dup)
| gnomAD v4 |
12 | g.51920942_51920945dup | CA2618861070 | ACVRL1 | c.*49_*52dup (n.*49_*52dup)
| gnomAD v4 |
12 | g.51920941_51920945dup | CA2618861067 | ACVRL1 | c.*48_*52dup (n.*48_*52dup)
| gnomAD v4 |
12 | g.51920940_51920945dup | CA2596578563 | ACVRL1 | c.*47_*52dup (n.*47_*52dup)
| gnomAD v3 gnomAD v4 |
12 | g.51920945del | CA2036242149 | ACVRL1 | c.*52del (n.*52del)
| dbSNP gnomAD v4 |
12 | g.51920944_51920945del | CA2529302392 | ACVRL1 | c.*51_*52del (n.*51_*52del)
| |
12 | g.51920943_51920945del | CA2618860986 | ACVRL1 | c.*50_*52del (n.*50_*52del)
| gnomAD v4 |
12 | g.51920940_51920946del | CA2618860985 | ACVRL1 | c.*47_*53del (n.*47_*53del)
| gnomAD v4 |
12 | g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGC | CA2618861052 | ACVRL1 | c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920946_51920947insGCGGGGGGGGGGGGGGGGGGGGGGC | CA2618861054 | ACVRL1 | c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618861051 | ACVRL1 | c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618861050 | ACVRL1 | c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920946_51920947insGGGGCGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618861053 | ACVRL1 | c.*53_*54insGGGGCGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGCGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920948_51920949insGGGGGGGGGGGGGCAG | CA2618861029 | ACVRL1 | c.*55_*56insGGGGGGGGGGGGGCAG (n.*55_*56insGGGGGGGGGGGGGCAG)
| gnomAD v4 |
12 | g.51920962_51920963insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA | CA2618861055 | ACVRL1 | c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA (n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGGGG | CA2618861161 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGGGG | CA2618861193 | ACVRL1 | c.*52_*53insGGGGGGGCGGGG (n.*52_*53insGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGGGG | CA2618861194 | ACVRL1 | c.*52_*53insGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCGGGG | CA2618861195 | ACVRL1 | c.*52_*53insGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCGGGG | CA2618861196 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCGGGG | CA2618861204 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGGG (n.*52_*53insGGGGGGGGGGCCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCGGGG | CA2618861197 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCGGGG | CA2618861199 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCGGGG | CA2618861200 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGGGG | CA2618861201 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGGG | CA2618861202 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGGGG | CA2618861203 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGGGG | CA2618861189 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGGGG | CA2618861176 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCGGGG | CA2618861190 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGGG | CA2618861179 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCGGGG | CA2618861178 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861184 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGGG | CA2618861180 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGGG | CA2618861181 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861185 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGGGG | CA2618861182 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861186 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861187 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGCCGGGG | CA2618861183 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCGGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGGG | CA2795983959 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGGG)
| |
12 | g.51920942_51920946dup | CA2618861192 | ACVRL1 | c.*49_*53dup (n.*49_*53dup)
| gnomAD v4 |
12 | g.51920943G>A | CA6573197 | ACVRL1 | c.*50G>A (n.*50G>A)
| dbSNP ExAC gnomAD v4 |
12 | g.51920943G>C | CA2575161694 | ACVRL1 | c.*50G>C (n.*50G>C)
| gnomAD v4 |
12 | g.51920943G= | CA2036242167 | ACVRL1 | c.*50G= (n.*50G=)
| |
12 | g.51920943G>T | CA605053188 | ACVRL1 | c.*50G>T (n.*50G>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.51920943_51920944insCG | CA2575161698 | ACVRL1 | c.*50_*51insCG (n.*50_*51insCG)
| |
12 | g.51920944_51920945insCGG | CA2575161696 | ACVRL1 | c.*51_*52insCGG (n.*51_*52insCGG)
| gnomAD v4 |
12 | g.51920944_51920945insCCGG | CA2575161695 | ACVRL1 | c.*51_*52insCCGG (n.*51_*52insCCGG)
| gnomAD v4 |
12 | g.51920944_51920945insCGCCGCCCGG | CA2618861532 | ACVRL1 | c.*51_*52insCGCCGCCCGG (n.*51_*52insCGCCGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGCGGG | CA2618861522 | ACVRL1 | c.*52_*53insGGCGGG (n.*52_*53insGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGCCGGG | CA2618861521 | ACVRL1 | c.*52_*53insGGGCCGGG (n.*52_*53insGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGCGGG | CA2618861519 | ACVRL1 | c.*52_*53insGGGGCGGG (n.*52_*53insGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGCCGGG | CA2618861518 | ACVRL1 | c.*52_*53insGGGGCCGGG (n.*52_*53insGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGCGGG | CA2618861481 | ACVRL1 | c.*52_*53insGGGGGCGGG (n.*52_*53insGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGTGGG | CA2618861403 | ACVRL1 | c.*52_*53insGGGGGTGGG (n.*52_*53insGGGGGTGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGCCCGGG | CA2618861516 | ACVRL1 | c.*52_*53insGGGGCCCGGG (n.*52_*53insGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGCCGGG | CA2618861513 | ACVRL1 | c.*52_*53insGGGGGCCGGG (n.*52_*53insGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCGGG | CA2618861511 | ACVRL1 | c.*52_*53insGGGGGGCGGG (n.*52_*53insGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCCGGG | CA2618861508 | ACVRL1 | c.*52_*53insGGGGGGCCGGG (n.*52_*53insGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGGG | CA2618861506 | ACVRL1 | c.*52_*53insGGGGGGGCGGG (n.*52_*53insGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGCGCCCGGG | CA2618861515 | ACVRL1 | c.*52_*53insGGGGCGCCCGGG (n.*52_*53insGGGGCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCGGG | CA2618861504 | ACVRL1 | c.*52_*53insGGGGGGGCCGGG (n.*52_*53insGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGGG | CA2618861495 | ACVRL1 | c.*52_*53insGGGGGGGGCGGG (n.*52_*53insGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCGGG | CA2618861503 | ACVRL1 | c.*52_*53insGGGGGGGCCCGGG (n.*52_*53insGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCGGG | CA2618861492 | ACVRL1 | c.*52_*53insGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCGGG | CA2618861483 | ACVRL1 | c.*52_*53insGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCGGG | CA2618861501 | ACVRL1 | c.*52_*53insGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGCCGGG | CA2795983973 | ACVRL1 | c.*52_*53insGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGCGCCGGG)
| |
12 | g.51920945_51920946insGGGGGGGGCCCGGG | CA2618861490 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCGGG | CA2618861559 | ACVRL1 | c.*52_*53insGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCGGG | CA2618861581 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCGGG | CA2618861499 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCGGG | CA2618861489 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCGGG | CA2618861539 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCGGG | CA2618861593 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCGGG | CA2618861589 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCGGG | CA2618861486 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCGGG | CA2618861568 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCGCCGGG | CA2618861578 | ACVRL1 | c.*52_*53insGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGCGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCGGG | CA2618861583 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCGGG | CA2618861591 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCGGG | CA2618861567 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCGGG | CA2618861484 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGCCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCGGG | CA2618861570 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCGGG | CA2618861584 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCGGG | CA2618861566 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCGGG | CA2618861561 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCCGGG | CA2618861573 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGGCCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCGGG | CA2618861564 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCGGG | CA2618861557 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCGGG | CA2618861555 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCGGG | CA2618861586 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGGGCCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGGG | CA2618861553 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGG | CA2618861551 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCGGGCCGGG | CA2618861574 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGGGCCGGG (n.*52_*53insGGGGGGGGGCCCGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGGG | CA2618861550 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGGG | CA2618861396 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGGG | CA2618861380 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGGG | CA2618861549 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCGGG | CA2618861394 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCGGG | CA2618861552 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGCCGGG | CA2618861368 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGGG | CA2618861548 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGG | CA2618861401 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGGG | CA2618861390 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCGGG | CA2618861379 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCGGG | CA2618861387 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGGG | CA2618861546 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGG | CA2618861351 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGCGGG | CA2618861541 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGG | CA2618861374 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861373 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861353 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGCCCGGG | CA2618861543 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861361 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGGG | CA2618861345 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861384 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861378 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861381 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861431 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861376 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861362 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861355 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCGGG | CA2618861545 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861375 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861372 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCGGG | CA2618861347 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGCCCGGG | CA2618861514 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861349 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861357 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861465 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861370 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861479 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861364 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861474 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861459 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861451 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861358 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861366 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861449 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861454 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861369 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861439 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861469 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGCCGGG | CA2618861468 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGGG | CA2618861360 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861397 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861436 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861447 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861427 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861421 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861408 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861425 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861418 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861442 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861433 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861406 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861413 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861422 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861411 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG)
| gnomAD v4 |
12 | g.51920946_51920947insCGGGC | CA2618861527 | ACVRL1 | c.*53_*54insCGGGC (n.*53_*54insCGGGC)
| gnomAD v4 |
12 | g.51920946_51920947insCCGGGC | CA2618861525 | ACVRL1 | c.*53_*54insCCGGGC (n.*53_*54insCCGGGC)
| gnomAD v4 |
12 | g.51920946_51920947insCCCGGGC | CA2618861524 | ACVRL1 | c.*53_*54insCCCGGGC (n.*53_*54insCCCGGGC)
| gnomAD v4 |
12 | g.51920943_51920946dup | CA2618861529 | ACVRL1 | c.*50_*53dup (n.*50_*53dup)
| gnomAD v4 |
12 | g.51920943_51920944insAA | CA2575161700 | ACVRL1 | c.*50_*51insAA (n.*50_*51insAA)
| |
12 | g.51920943_51920944insCCC | CA2575161704 | ACVRL1 | c.*50_*51insCCC (n.*50_*51insCCC)
| |
12 | g.51920944G>A | CA2618861667 | ACVRL1 | c.*51G>A (n.*51G>A)
| gnomAD v4 |
12 | g.51920944G>C | CA2618861666 | ACVRL1 | c.*51G>C (n.*51G>C)
| gnomAD v4 |
12 | g.51920944G= | CA2036242172 | ACVRL1 | c.*51G= (n.*51G=)
| |
12 | g.51920944G>T | CA2618861665 | ACVRL1 | c.*51G>T (n.*51G>T)
| gnomAD v4 |
12 | g.51920944_51920945insAG | CA2575161703 | ACVRL1 | c.*51_*52insAG (n.*51_*52insAG)
| |
12 | g.51920945_51920946insGCCGG | CA2575161701 | ACVRL1 | c.*52_*53insGCCGG (n.*52_*53insGCCGG)
| |
12 | g.51920945_51920946insGGCCCGG | CA2618861761 | ACVRL1 | c.*52_*53insGGCCCGG (n.*52_*53insGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGCCGG | CA2618861759 | ACVRL1 | c.*52_*53insGGGCCGG (n.*52_*53insGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGCCGG | CA2618861755 | ACVRL1 | c.*52_*53insGGGGGCCGG (n.*52_*53insGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGG | CA2618861749 | ACVRL1 | c.*52_*53insGGGGGGGCGG (n.*52_*53insGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCCCGG | CA2618861752 | ACVRL1 | c.*52_*53insGGGGGGCCCGG (n.*52_*53insGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCGG | CA2618861747 | ACVRL1 | c.*52_*53insGGGGGGGCCGG (n.*52_*53insGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGG | CA2618861706 | ACVRL1 | c.*52_*53insGGGGGGGGCGG (n.*52_*53insGGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCGG | CA2618861743 | ACVRL1 | c.*52_*53insGGGGGGGCCCGG (n.*52_*53insGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGCGG | CA2618861739 | ACVRL1 | c.*52_*53insGGGGGGGCGCGG (n.*52_*53insGGGGGGGCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCGG | CA2618861734 | ACVRL1 | c.*52_*53insGGGGGGGGCCGG (n.*52_*53insGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCGG | CA2618861741 | ACVRL1 | c.*52_*53insGGGGGGGCCCCGG (n.*52_*53insGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCGG | CA2618861730 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCGG | CA2618861716 | ACVRL1 | c.*52_*53insGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCGG | CA2618861838 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCGG | CA2618861740 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCGG | CA2618861729 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCCGG | CA2618861714 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCGG (n.*52_*53insGGGGGGGGCGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCGG | CA2618861711 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCGG | CA2618861835 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCGG | CA2618861826 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCGG | CA2618861727 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCGG | CA2618861708 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCGG | CA2618861833 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCGG | CA2618861822 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCGG | CA2618861724 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCGG | CA2618861707 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCGG | CA2618861821 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCGCGG | CA2618861816 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGGGGCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCGG | CA2618861813 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCGG | CA2618861721 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGCCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCGG | CA2618861830 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCGG | CA2618861810 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCGG | CA2795983984 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGCGG)
| |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCGG | CA2795983982 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGCCCCCCGG)
| |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCGG | CA2618861802 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGG | CA2618861793 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCGCGCCCCGG | CA2618861842 | ACVRL1 | c.*52_*53insGGGGGGGGGCGCGCCCCGG (n.*52_*53insGGGGGGGGGCGCGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCGG | CA2618861770 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCCCGG | CA2618861718 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCCGG (n.*52_*53insGGGGGGGGCCCCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGG | CA2618861785 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCGG | CA2618861804 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGG | CA2618861779 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCGG | CA2618861774 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGCGG | CA2618861787 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGCGG (n.*52_*53insGGGGGGGGGGGGGGCCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGG | CA2618861777 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCGG | CA2618861789 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGG | CA2618861654 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGCGG | CA2618861660 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGGGGGGGGGCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGG | CA2618861658 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCGG | CA2618861657 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGCCCGG | CA2618861736 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGG | CA2618861775 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCCCGG | CA2618861799 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGCCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCGG | CA2618861656 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGG | CA2618861653 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGG | CA2618861652 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGG | CA2618861644 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGG | CA2618861704 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGG | CA2618861641 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCGG | CA2618861772 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861655 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861645 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861651 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861646 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861650 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861703 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCGG | CA2618861661 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGCGG | CA2618861638 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861695 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCGG | CA2618861690 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCGG | CA2618861642 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGG | CA2618861664 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861647 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861699 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861649 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCGG | CA2618861637 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861689 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGCCCGG | CA2618861643 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGCCCGG | CA2618861639 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861693 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861648 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861692 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861696 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCCGG | CA2618861682 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGCCCCCCGG | CA2618861640 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2795983985 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGG)
| |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGG | CA2618861679 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861688 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861677 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCGCCCCGG | CA2618861663 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861681 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861673 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861680 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861670 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGG | CA2618861671 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861669 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGCCGG | CA2618861684 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGCCGG)
| gnomAD v4 |
12 | g.51920944_51920946delinsGGC | CA2036242170 | ACVRL1 | c.*51_*53delinsGGC (n.*51_*53delinsGGC)
| |
12 | g.51920946_51920947insCGGC | CA2575161702 | ACVRL1 | c.*53_*54insCGGC (n.*53_*54insCGGC)
| |
12 | g.51920946_51920947insCCCCCGGC | CA2618861765 | ACVRL1 | c.*53_*54insCCCCCGGC (n.*53_*54insCCCCCGGC)
| gnomAD v4 |
12 | g.51920944_51920946dup | CA2618861768 | ACVRL1 | c.*51_*53dup (n.*51_*53dup)
| gnomAD v4 |
12 | g.51920945G>A | CA605053191 | ACVRL1 | c.*52G>A (n.*52G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920945G>C | CA2522075531 | ACVRL1 | c.*52G>C (n.*52G>C)
| gnomAD v4 |
12 | g.51920945G= | CA2036242173 | ACVRL1 | c.*52G= (n.*52G=)
| |
12 | g.51920945G>T | CA2618861872 | ACVRL1 | c.*52G>T (n.*52G>T)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGAG | CA605053190 | ACVRL1 | c.*52_*53insGGGGGGGAG (n.*52_*53insGGGGGGGAG)
| dbSNP gnomAD v2 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCCG | CA2618861877 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCCG (n.*52_*53insGGGGGGGGGGCCCCCCCCG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCAG | CA2618861868 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCAG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCAG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCG | CA2618861875 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCG)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCCCGCG | CA2618861876 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCGCG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCGCG)
| gnomAD v4 |
12 | g.51920945_51920946del | CA6573198 | ACVRL1 | c.*52_*53del (n.*52_*53del)
| dbSNP ExAC |
12 | g.51920945_51920946insGGGGC | CA2618863330 | ACVRL1 | c.*52_*53insGGGGC (n.*52_*53insGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGC | CA2618863502 | ACVRL1 | c.*52_*53insGGGGGGGC (n.*52_*53insGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGCCGCCCGC | CA2618863348 | ACVRL1 | c.*52_*53insGCCGCCCGC (n.*52_*53insGCCGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGCCCCCGC | CA2618863338 | ACVRL1 | c.*52_*53insGGCCCCCGC (n.*52_*53insGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGC | CA2618863438 | ACVRL1 | c.*52_*53insGGGGGGGGC (n.*52_*53insGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGC | CA2618863259 | ACVRL1 | c.*52_*53insGGGGGGGGGC (n.*52_*53insGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGC | CA2618863668 | ACVRL1 | c.*52_*53insGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGCCCCCCCCGC | CA2618863344 | ACVRL1 | c.*52_*53insGGCCCCCCCCGC (n.*52_*53insGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGCGCCCCCGC | CA2618863333 | ACVRL1 | c.*52_*53insGGGCGCCCCCGC (n.*52_*53insGGGCGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGCCCCCCC | CA2618863318 | ACVRL1 | c.*52_*53insGGGGGCCCCCCC (n.*52_*53insGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCCCCGC | CA2618863352 | ACVRL1 | c.*52_*53insGGGGGGCCCCGC (n.*52_*53insGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCC | CA2618863495 | ACVRL1 | c.*52_*53insGGGGGGGCCCCC (n.*52_*53insGGGGGGGCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGGC | CA2618863265 | ACVRL1 | c.*52_*53insGGGGGGGGCGGC (n.*52_*53insGGGGGGGGCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGC | CA2618863716 | ACVRL1 | c.*52_*53insGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCCCCCGC | CA2618863311 | ACVRL1 | c.*52_*53insGGGGGGCCCCCGC (n.*52_*53insGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCGGC | CA2618863456 | ACVRL1 | c.*52_*53insGGGGGGGCCCGGC (n.*52_*53insGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCGGGC | CA2618863452 | ACVRL1 | c.*52_*53insGGGGGGGCCGGGC (n.*52_*53insGGGGGGGCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCGC | CA2618863131 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGC | CA2618863907 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCGC | CA2618863463 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCGGC | CA2618863459 | ACVRL1 | c.*52_*53insGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGCCCGC | CA2618863446 | ACVRL1 | c.*52_*53insGGGGGGGCGCCCGC (n.*52_*53insGGGGGGGCGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCC | CA2618863429 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCGC | CA2618863137 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCGGC | CA2618863120 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCGGGC | CA2618863110 | ACVRL1 | c.*52_*53insGGGGGGGGCCGGGC (n.*52_*53insGGGGGGGGCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGCCCCCCCCCCC | CA2618863320 | ACVRL1 | c.*52_*53insGGGGCCCCCCCCCCC (n.*52_*53insGGGGCCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCCCCCCCCC | CA2618863315 | ACVRL1 | c.*52_*53insGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGCGCCCCCGC | CA2618863508 | ACVRL1 | c.*52_*53insGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGCGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCCCC | CA2618863489 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCCGC | CA2618863467 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCGGC | CA2618863419 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCC | CA2618863421 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCGC | CA2618863152 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCGGC | CA2618863134 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCGCGC | CA2618862915 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGCGC (n.*52_*53insGGGGGGGGCCCGCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCCGGC | CA2618863278 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCGGC (n.*52_*53insGGGGGGGGCGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCGGC | CA2618863234 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCGCGGC | CA2618863231 | ACVRL1 | c.*52_*53insGGGGGGGGGCGCGGC (n.*52_*53insGGGGGGGGGCGCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGC | CA2618863604 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCCCCC | CA2618863483 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCC | CA2618863250 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCGC | CA2618863189 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCGCC | CA2618863106 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGCC (n.*52_*53insGGGGGGGGCCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCGGC | CA2618863145 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCGCCCC | CA2618863127 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGCCCC (n.*52_*53insGGGGGGGGCCCGCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCCCGGC | CA2618863286 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCGGC (n.*52_*53insGGGGGGGGCGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCCC | CA2618863253 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCGC | CA2618863241 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCGGC | CA2618863236 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCC | CA2618863852 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCGGC | CA2618863742 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGC | CA2618863575 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCGGC | CA2618863461 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCGC | CA2618863194 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCCCC | CA2618863226 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCGC | CA2618863974 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCGGC | CA2618863239 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCGCCCCCCGC | CA2618863448 | ACVRL1 | c.*52_*53insGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGCGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCGGGC | CA2618863733 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGGC (n.*52_*53insGGGGGGGGGGCCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCCC | CA2618863219 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCGCC | CA2618863186 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGCC (n.*52_*53insGGGGGGGGCCCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCGGGC | CA2618863141 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGGGC (n.*52_*53insGGGGGGGGCCCCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCCCCCGC | CA2618863301 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGCGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCCCCGGC | CA2618863295 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCCGGC (n.*52_*53insGGGGGGGGCGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCC | CA2618863847 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCGGC | CA2618863789 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCGC | CA2618863808 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGC | CA2618863646 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCGC | CA2618863943 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCGGC | CA2618863957 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCGCCCCGC | CA2618863272 | ACVRL1 | c.*52_*53insGGGGGGGGCGCGCCCCGC (n.*52_*53insGGGGGGGGCGCGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGCCCCCCCCCGC | CA2618863475 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGCCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCCCC | CA2618863211 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCCCCC | CA2618863248 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCGCCGCCC | CA2618863720 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGCCGCCC (n.*52_*53insGGGGGGGGGGCGCCGCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCGGC | CA2618863707 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCGC | CA2618863816 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCGCCCCCCGC | CA2618863147 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGGCGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCGGC | CA2618863872 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCCGC | CA2618863879 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCC | CA2618863841 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCCGC | CA2618863199 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCCCGC | CA2618863245 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCGC | CA2618863936 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGC | CA2618863663 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGC (n.*52_*53insGGGGGGGGGGGGGGGCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCCC | CA2618863834 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCGC | CA2618863820 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGCCCCCCCGGC | CA2618863243 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGCCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCC | CA2618863713 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCGC | CA2618863619 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCGC | CA2618863894 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCGCCGGC | CA2618863921 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCGCCGGC (n.*52_*53insGGGGGGGGGGGCCGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGC | CA2618862791 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCGCCCCCGCC | CA2618863114 | ACVRL1 | c.*52_*53insGGGGGGGGCCGCCCCCGCC (n.*52_*53insGGGGGGGGCCGCCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCGCCCCCGC | CA2618863725 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGGGCGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGCCCCCCCCCGC | CA2618863204 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCGCCCCCCGC | CA2618863730 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGGGGCGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCGGC | CA2618863887 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCCGC | CA2618863901 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCGCCGGC | CA2618863614 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCGCCGGC (n.*52_*53insGGGGGGGGGGGGGCGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCGC | CA2618863856 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCGGCCCGC | CA2618863862 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGCCCGC (n.*52_*53insGGGGGGGGGGGGCGGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCGC | CA2618863624 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGC | CA2618862785 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGC | CA2618863681 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCCC | CA2618863628 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCCC | CA2618863599 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGC | CA2618863000 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCCCCC | CA2618863827 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCGGC | CA2618863513 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCCGC | CA2618863915 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCGGC | CA2618863926 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGGGCCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGGC | CA2618863677 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGC | CA2618863691 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGCGC | CA2618862811 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGCGCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCC | CA2618863564 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGC | CA2618862973 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGGC | CA2618863683 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCCCCC | CA2618863711 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGCCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGC | CA2618863702 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCGCCCCCCCGC | CA2618863911 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGCGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCC | CA2618863554 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGCC | CA2618863686 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGCCCGC | CA2618863672 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCC | CA2618863642 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCGGC | CA2618863587 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCC | CA2618862809 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGGC | CA2618862812 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGCCCGGCCCCCGC | CA2618863966 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGC | CA2618862721 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCGC | CA2618863586 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGGC | CA2618863695 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGC | CA2618862799 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGGC | CA2618862771 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCC | CA2618863548 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCCCGC | CA2618863593 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGCGGCCCCCCGC | CA2618863800 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGCGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGC | CA2618863025 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGCCGGC | CA2618863632 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGCGGC | CA2618862794 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGCGCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCGGC | CA2618862814 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCC | CA2618862855 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCC | CA2618863640 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGC | CA2618862835 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGC | CA2618862742 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCGCCCGC | CA2618863581 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCGCCCGC (n.*52_*53insGGGGGGGGGGGGGGCCCGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGGC | CA2618862740 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGCC | CA2618862797 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862788 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGC | CA2618863067 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGCGC | CA2618863698 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCCCCCCC | CA2795984005 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGCCCCCCCCCCC)
| |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862795 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862750 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGC | CA2618862820 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCC | CA2618863634 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCGC | CA2618863520 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCCC | CA2618863539 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCC | CA2618862853 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862815 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862816 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGCCCGC | CA2618862813 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGCCGC | CA2618862719 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862850 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGGC | CA2618863020 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGCCCCCGC | CA2618863659 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862819 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862827 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618862906 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862817 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862808 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618862762 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862754 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGGC | CA2618862748 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862802 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGGC | CA2618863073 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCGGC | CA2618862729 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618863530 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618862878 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGCCGGC | CA2618862743 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862759 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862766 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCGGC | CA2618862731 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCGC | CA2618862732 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862783 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862831 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862822 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGCGC | CA2618862758 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618863415 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862804 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862980 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGCC | CA2618862824 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862847 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCGGGC | CA2618862730 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862818 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCGGC | CA2618862829 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618863087 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGCCCCC | CA2618862976 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862781 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGGCCCCCCCC | CA2618863650 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCC | CA2618862969 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862764 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862769 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGGGCCCCCGC | CA2618862810 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862845 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGCCCGGC | CA2618862723 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGC | CA2618863044 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618862949 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862986 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCCCCCC | CA2618863525 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862983 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCCCC | CA2618862737 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618863100 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618863086 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGCCCCGGC | CA2618862746 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCGGC | CA2618863007 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618862843 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862779 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862992 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCCGGC | CA2618862734 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCCCGC | CA2618862735 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862998 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGGGC | CA2618862908 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618863038 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618863048 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618862837 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCGGC | CA2618862834 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862772 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGGC | CA2618862767 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGCCGCGCGC | CA2618862717 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGCGCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGCCCCCGC | CA2618863004 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618863060 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCCGC | CA2618862839 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCCCCCGC | CA2618862807 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGCCCCGC | CA2618863023 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618862777 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618863091 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCCCC | CA2618863033 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862966 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCGGC | CA2618862989 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862963 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCGGC | CA2618862752 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618862774 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGCCCCCCGC | CA2618862726 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618863055 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862996 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618863063 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862881 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618862858 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618863030 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC | CA2618863078 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGC | CA2618862958 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCCCCGC | CA2618863018 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCCGC | CA2618862775 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618863103 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862888 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862932 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGGGCCCGGGC | CA2618863002 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGGCCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGGCCCGGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGC | CA2618862960 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862885 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC | CA2618862945 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCGCCCCCGGC | CA2618863083 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862866 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862862 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862929 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGGC | CA2795984010 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGGC)
| |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862903 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862891 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862893 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862942 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862911 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862897 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862876 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862869 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862900 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862935 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862874 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618862898 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGCC | CA2618862938 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGCC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618862872 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC | CA2618862927 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGCCCCCGC | CA2618862953 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGCCCCCGC)
| gnomAD v4 |
12 | g.51920945_51920946insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCGGCCCCCCGC | CA2618862924 | ACVRL1 | c.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCGGCCCCCCGC (n.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCGGCCCCCCGC)
| gnomAD v4 |
12 | g.51920946C>A | CA2575161708 | ACVRL1 | c.*53C>A (n.*53C>A)
| gnomAD v4 |
12 | g.51920946C= | CA2036242175 | ACVRL1 | c.*53C= (n.*53C=)
| |
12 | g.51920946C>G | CA2618862920 | ACVRL1 | c.*53C>G (n.*53C>G)
| gnomAD v4 |
12 | g.51920946C>T | CA2036242177 | ACVRL1 | c.*53C>T (n.*53C>T)
| dbSNP gnomAD v4 |
12 | g.51920946_51920947insCCCCC | CA2618863404 | ACVRL1 | c.*53_*54insCCCCC (n.*53_*54insCCCCC)
| gnomAD v4 |
12 | g.51920946_51920947insCCGCC | CA2575161707 | ACVRL1 | c.*53_*54insCCGCC (n.*53_*54insCCGCC)
| |
12 | g.51920946_51920947insCCCGCC | CA2575161706 | ACVRL1 | c.*53_*54insCCCGCC (n.*53_*54insCCCGCC)
| |
12 | g.51920946_51920947insCCCCCCC | CA2618863392 | ACVRL1 | c.*53_*54insCCCCCCC (n.*53_*54insCCCCCCC)
| gnomAD v4 |
12 | g.51920946_51920947insCCCCGCC | CA2618863363 | ACVRL1 | c.*53_*54insCCCCGCC (n.*53_*54insCCCCGCC)
| gnomAD v4 |
12 | g.51920946_51920947insCCCGGCC | CA2618863307 | ACVRL1 | c.*53_*54insCCCGGCC (n.*53_*54insCCCGGCC)
| gnomAD v4 |
12 | g.51920946_51920947insCCCCCCCC | CA2618863386 | ACVRL1 | c.*53_*54insCCCCCCCC (n.*53_*54insCCCCCCCC)
| gnomAD v4 |
12 | g.51920946_51920947insCCCCCGCC | CA2618863373 | ACVRL1 | c.*53_*54insCCCCCGCC (n.*53_*54insCCCCCGCC)
| gnomAD v4 |
12 | g.51920946_51920947insCCCCCCGCC | CA2618863380 | ACVRL1 | c.*53_*54insCCCCCCGCC (n.*53_*54insCCCCCCGCC)
| gnomAD v4 |
12 | g.51920946dup | CA2618863408 | ACVRL1 | c.*53dup (n.*53dup)
| gnomAD v4 |
12 | g.51920946_51920947del | CA2575161705 | ACVRL1 | c.*53_*54del (n.*53_*54del)
| gnomAD v4 |
12 | g.51920946_51920947insCCCGGCA | CA2618864025 | ACVRL1 | c.*53_*54insCCCGGCA (n.*53_*54insCCCGGCA)
| gnomAD v4 |
12 | g.51920947A>C | CA2618864026 | ACVRL1 | c.*54A>C (n.*54A>C)
| gnomAD v4 |
12 | g.51920947A>G | CA2618864028 | ACVRL1 | c.*54A>G (n.*54A>G)
| gnomAD v4 |
12 | g.51920947A>T | CA2575161709 | ACVRL1 | c.*54A>T (n.*54A>T)
| gnomAD v4 |
12 | g.51920947_51920948insT | CA2618864034 | ACVRL1 | c.*54_*55insT (n.*54_*55insT)
| gnomAD v4 |
12 | g.51920948G>A | CA2618864037 | ACVRL1 | c.*55G>A (n.*55G>A)
| gnomAD v4 |
12 | g.51920948G>C | CA2618864039 | ACVRL1 | c.*55G>C (n.*55G>C)
| gnomAD v4 |
12 | g.51920948G>T | CA2618864040 | ACVRL1 | c.*55G>T (n.*55G>T)
| gnomAD v4 |
12 | g.51920948_51920957del | CA2618864035 | ACVRL1 | c.*55_*64del (n.*55_*64del)
| gnomAD v4 |
12 | g.51920949T>A | CA2618864043 | ACVRL1 | c.*56T>A (n.*56T>A)
| gnomAD v4 |
12 | g.51920949T>C | CA2520953543 | ACVRL1 | c.*56T>C (n.*56T>C)
| gnomAD v4 |
12 | g.51920949T>G | CA2575161710 | ACVRL1 | c.*56T>G (n.*56T>G)
| gnomAD v4 |
12 | g.51920949_51920953del | CA2618864044 | ACVRL1 | c.*56_*60del (n.*56_*60del)
| gnomAD v4 |
12 | g.51920950G>A | CA605053194 | ACVRL1 | c.*57G>A (n.*57G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920950G= | CA2036242178 | ACVRL1 | c.*57G= (n.*57G=)
| |
12 | g.51920950G>T | CA2618864051 | ACVRL1 | c.*57G>T (n.*57G>T)
| gnomAD v4 |
12 | g.51920951G>A | CA10641805 | ACVRL1 | c.*58G>A (n.*58G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920951G>C | CA2581087488 | ACVRL1 | c.*58G>C (n.*58G>C)
| gnomAD v4 |
12 | g.51920951G= | CA2036242182 | ACVRL1 | c.*58G= (n.*58G=)
| |
12 | g.51920951G>T | CA2581087487 | ACVRL1 | c.*58G>T (n.*58G>T)
| dbSNP gnomAD v4 |
12 | g.51920951_51920952insGGGGGGGGGGGCGGGCGCGCCCCCCCCCGGGC | CA2618864059 | ACVRL1 | c.*58_*59insGGGGGGGGGGGCGGGCGCGCCCCCCCCCGGGC (n.*58_*59insGGGGGGGGGGGCGGGCGCGCCCCCCCCCGGGC)
| gnomAD v4 |
12 | g.51920952del | CA2521715698 | ACVRL1 | c.*59del (n.*59del)
| |
12 | g.51920952A>C | CA2618864060 | ACVRL1 | c.*59A>C (n.*59A>C)
| gnomAD v4 |
12 | g.51920952A>G | CA2618864061 | ACVRL1 | c.*59A>G (n.*59A>G)
| gnomAD v4 |
12 | g.51920952A>T | CA2618864062 | ACVRL1 | c.*59A>T (n.*59A>T)
| gnomAD v4 |
12 | g.51920953T>A | CA2618864063 | ACVRL1 | c.*60T>A (n.*60T>A)
| gnomAD v4 |
12 | g.51920953T>C | CA2618864064 | ACVRL1 | c.*60T>C (n.*60T>C)
| gnomAD v4 |
12 | g.51920953T>G | CA2575161711 | ACVRL1 | c.*60T>G (n.*60T>G)
| gnomAD v4 |
12 | g.51920954G>A | CA2618864068 | ACVRL1 | c.*61G>A (n.*61G>A)
| gnomAD v4 |
12 | g.51920954G>C | CA689770117 | ACVRL1 | c.*61G>C (n.*61G>C)
| dbSNP |
12 | g.51920954G= | CA2036242184 | ACVRL1 | c.*61G= (n.*61G=)
| |
12 | g.51920954G>T | CA2618864066 | ACVRL1 | c.*61G>T (n.*61G>T)
| gnomAD v4 |
12 | g.51920955G>A | CA2618864072 | ACVRL1 | c.*62G>A (n.*62G>A)
| gnomAD v4 |
12 | g.51920955G>T | CA2618864073 | ACVRL1 | c.*62G>T (n.*62G>T)
| gnomAD v4 |
12 | g.51920956T>A | CA2575161712 | ACVRL1 | c.*63T>A (n.*63T>A)
| gnomAD v4 |
12 | g.51920956T>G | CA2575161713 | ACVRL1 | c.*63T>G (n.*63T>G)
| gnomAD v4 |
12 | g.51920957G>A | CA479817529 | ACVRL1 | c.*64G>A (n.*64G>A)
| gnomAD v4 |
12 | g.51920957G>T | CA2618864074 | ACVRL1 | c.*64G>T (n.*64G>T)
| gnomAD v4 |
12 | g.51920958C>A | CA2499795854 | ACVRL1 | c.*65C>A (n.*65C>A)
| gnomAD v4 |
12 | g.51920958C= | CA2036242187 | ACVRL1 | c.*65C= (n.*65C=)
| |
12 | g.51920958C>G | CA2618864077 | ACVRL1 | c.*65C>G (n.*65C>G)
| gnomAD v4 |
12 | g.51920958C>T | CA236367890 | ACVRL1 | c.*65C>T (n.*65C>T)
| dbSNP gnomAD v4 |
12 | g.51920959C>A | CA2618864080 | ACVRL1 | c.*66C>A (n.*66C>A)
| gnomAD v4 |
12 | g.51920959C>T | CA2618864081 | ACVRL1 | c.*66C>T (n.*66C>T)
| gnomAD v4 |
12 | g.51920960C>A | CA2618864084 | ACVRL1 | c.*67C>A (n.*67C>A)
| gnomAD v4 |
12 | g.51920960C>T | CA2618864087 | ACVRL1 | c.*67C>T (n.*67C>T)
| gnomAD v4 |
12 | g.51920960_51920961del | CA2618864083 | ACVRL1 | c.*67_*68del (n.*67_*68del)
| gnomAD v4 |
12 | g.51920961T>A | CA2618864093 | ACVRL1 | c.*68T>A (n.*68T>A)
| gnomAD v4 |
12 | g.51920961T>C | CA2618864091 | ACVRL1 | c.*68T>C (n.*68T>C)
| gnomAD v4 |
12 | g.51920961T>G | CA2618864090 | ACVRL1 | c.*68T>G (n.*68T>G)
| gnomAD v4 |
12 | g.51920961_51921005del | CA2618864092 | ACVRL1 | c.*68_*112del (n.*68_*112del)
| gnomAD v4 |
12 | g.51920962A>C | CA2618864096 | ACVRL1 | c.*69A>C (n.*69A>C)
| gnomAD v4 |
12 | g.51920962A>G | CA2505636117 | ACVRL1 | c.*69A>G (n.*69A>G)
| |
12 | g.51920963T>A | CA2618864097 | ACVRL1 | c.*70T>A (n.*70T>A)
| gnomAD v4 |
12 | g.51920963T>G | CA2618864098 | ACVRL1 | c.*70T>G (n.*70T>G)
| gnomAD v4 |
12 | g.51920964C>A | CA2618864099 | ACVRL1 | c.*71C>A (n.*71C>A)
| gnomAD v4 |
12 | g.51920964C>T | CA2515110203 | ACVRL1 | c.*71C>T (n.*71C>T)
| gnomAD v4 |
12 | g.51920965T>A | CA2618864100 | ACVRL1 | c.*72T>A (n.*72T>A)
| gnomAD v4 |
12 | g.51920965T>G | CA2618864101 | ACVRL1 | c.*72T>G (n.*72T>G)
| gnomAD v4 |
12 | g.51920965_51921005del | CA2618864102 | ACVRL1 | c.*72_*112del (n.*72_*112del)
| gnomAD v4 |
12 | g.51920966G>A | CA2572740497 | ACVRL1 | c.*73G>A (n.*73G>A)
| |
12 | g.51920966G>T | CA2618864105 | ACVRL1 | c.*73G>T (n.*73G>T)
| gnomAD v4 |
12 | g.51920968del | CA2618864104 | ACVRL1 | c.*75del (n.*75del)
| gnomAD v4 |
12 | g.51920967G>A | CA947669150 | ACVRL1 | c.*74G>A (n.*74G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920967G= | CA2036242189 | ACVRL1 | c.*74G= (n.*74G=)
| |
12 | g.51920967G>T | CA2575161714 | ACVRL1 | c.*74G>T (n.*74G>T)
| gnomAD v4 |
12 | g.51920968G>A | CA2618864108 | ACVRL1 | c.*75G>A (n.*75G>A)
| gnomAD v4 |
12 | g.51920968G>T | CA2618864110 | ACVRL1 | c.*75G>T (n.*75G>T)
| gnomAD v4 |
12 | g.51920969T>A | CA2618864112 | ACVRL1 | c.*76T>A (n.*76T>A)
| gnomAD v4 |
12 | g.51920969T>G | CA2618864113 | ACVRL1 | c.*76T>G (n.*76T>G)
| gnomAD v4 |
12 | g.51920969_51920970insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA | CA2549418449 | ACVRL1 | c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA (n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA)
| |
12 | g.51920970A>C | CA2795984023 | ACVRL1 | c.*77A>C (n.*77A>C)
| |
12 | g.51920970A>G | CA2618864115 | ACVRL1 | c.*77A>G (n.*77A>G)
| gnomAD v4 |
12 | g.51920971G>A | CA2618864118 | ACVRL1 | c.*78G>A (n.*78G>A)
| gnomAD v4 |
12 | g.51920971G>T | CA2618864117 | ACVRL1 | c.*78G>T (n.*78G>T)
| gnomAD v4 |
12 | g.51920972A>G | CA2618864121 | ACVRL1 | c.*79A>G (n.*79A>G)
| gnomAD v4 |
12 | g.51920972A>T | CA2618864120 | ACVRL1 | c.*79A>T (n.*79A>T)
| gnomAD v4 |
12 | g.51920973G>T | CA2618864123 | ACVRL1 | c.*80G>T (n.*80G>T)
| gnomAD v4 |
12 | g.51920974G>A | CA2036242192 | ACVRL1 | c.*81G>A (n.*81G>A)
| dbSNP gnomAD v4 |
12 | g.51920974G= | CA2036242190 | ACVRL1 | c.*81G= (n.*81G=)
| |
12 | g.51920974G>T | CA2618864126 | ACVRL1 | c.*81G>T (n.*81G>T)
| gnomAD v4 |
12 | g.51920975T>A | CA2618864129 | ACVRL1 | c.*82T>A (n.*82T>A)
| gnomAD v4 |
12 | g.51920975T>G | CA2618864131 | ACVRL1 | c.*82T>G (n.*82T>G)
| dbSNP gnomAD v4 |
12 | g.51920976A>T | CA2618864132 | ACVRL1 | c.*83A>T (n.*83A>T)
| gnomAD v4 |
12 | g.51920977G>A | CA2618864134 | ACVRL1 | c.*84G>A (n.*84G>A)
| gnomAD v4 |
12 | g.51920977G>T | CA2618864137 | ACVRL1 | c.*84G>T (n.*84G>T)
| gnomAD v4 |
12 | g.51920980_51920981del | CA2575161715 | ACVRL1 | c.*87_*88del (n.*87_*88del)
| gnomAD v4 |
12 | g.51920978T>A | CA2618864140 | ACVRL1 | c.*85T>A (n.*85T>A)
| gnomAD v4 |
12 | g.51920978T>C | CA2618864138 | ACVRL1 | c.*85T>C (n.*85T>C)
| gnomAD v4 |
12 | g.51920978T>G | CA2575161716 | ACVRL1 | c.*85T>G (n.*85T>G)
| gnomAD v4 |
12 | g.51920979G>A | CA236367892 | ACVRL1 | c.*86G>A (n.*86G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920979G= | CA2036242195 | ACVRL1 | c.*86G= (n.*86G=)
| |
12 | g.51920979G>T | CA2618864143 | ACVRL1 | c.*86G>T (n.*86G>T)
| gnomAD v4 |
12 | g.51920980T>A | CA2618864148 | ACVRL1 | c.*87T>A (n.*87T>A)
| gnomAD v4 |
12 | g.51920980T>C | CA2618864149 | ACVRL1 | c.*87T>C (n.*87T>C)
| gnomAD v4 |
12 | g.51920980T>G | CA2618864150 | ACVRL1 | c.*87T>G (n.*87T>G)
| dbSNP gnomAD v4 |
12 | g.51920980dup | CA2618864145 | ACVRL1 | c.*87dup (n.*87dup)
| gnomAD v4 |
12 | g.51920981G>A | CA2575161717 | ACVRL1 | c.*88G>A (n.*88G>A)
| gnomAD v4 |
12 | g.51920981G>T | CA2618864152 | ACVRL1 | c.*88G>T (n.*88G>T)
| gnomAD v4 |
12 | g.51920982A>G | CA2618864156 | ACVRL1 | c.*89A>G (n.*89A>G)
| gnomAD v4 |
12 | g.51920982A>T | CA2618864158 | ACVRL1 | c.*89A>T (n.*89A>T)
| gnomAD v4 |
12 | g.51920983G>A | CA2575161718 | ACVRL1 | c.*90G>A (n.*90G>A)
| gnomAD v4 |
12 | g.51920983G>T | CA2618864160 | ACVRL1 | c.*90G>T (n.*90G>T)
| gnomAD v4 |
12 | g.51920984T>G | CA2036242199 | ACVRL1 | c.*91T>G (n.*91T>G)
| dbSNP gnomAD v4 |
12 | g.51920984T= | CA2036242197 | ACVRL1 | c.*91T= (n.*91T=)
| |
12 | g.51920985G>T | CA2618864165 | ACVRL1 | c.*92G>T (n.*92G>T)
| gnomAD v4 |
12 | g.51920986T>A | CA2618864166 | ACVRL1 | c.*93T>A (n.*93T>A)
| gnomAD v4 |
12 | g.51920986T>C | CA2036242201 | ACVRL1 | c.*93T>C (n.*93T>C)
| dbSNP |
12 | g.51920986T>G | CA2726104175 | ACVRL1 | c.*93T>G (n.*93T>G)
| dbSNP |
12 | g.51920986T= | CA2036242200 | ACVRL1 | c.*93T= (n.*93T=)
| |
12 | g.51920987G>A | CA2575161719 | ACVRL1 | c.*94G>A (n.*94G>A)
| gnomAD v4 |
12 | g.51920987G>T | CA2618864168 | ACVRL1 | c.*94G>T (n.*94G>T)
| gnomAD v4 |
12 | g.51920987_51920988insTTGG | CA2795984024 | ACVRL1 | c.*94_*95insTTGG (n.*94_*95insTTGG)
| |
12 | g.51920988G>A | CA2575161720 | ACVRL1 | c.*95G>A (n.*95G>A)
| |
12 | g.51920988G>C | CA236367901 | ACVRL1 | c.*95G>C (n.*95G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920988G= | CA2036242203 | ACVRL1 | c.*95G= (n.*95G=)
| |
12 | g.51920989T>G | CA2726345459 | ACVRL1 | c.*96T>G (n.*96T>G)
| dbSNP |
12 | g.51920990G>A | CA2618864171 | ACVRL1 | c.*97G>A (n.*97G>A)
| gnomAD v4 |
12 | g.51920990G>T | CA2618864175 | ACVRL1 | c.*97G>T (n.*97G>T)
| gnomAD v4 |
12 | g.51920992G>A | CA2618864177 | ACVRL1 | c.*99G>A (n.*99G>A)
| gnomAD v4 |
12 | g.51920993T>C | CA2618864179 | ACVRL1 | c.*100T>C (n.*100T>C)
| gnomAD v4 |
12 | g.51920993T>G | CA2575161721 | ACVRL1 | c.*100T>G (n.*100T>G)
| gnomAD v4 |
12 | g.51920993_51920994insTT | CA2795984025 | ACVRL1 | c.*100_*101insTT (n.*100_*101insTT)
| |
12 | g.51920994G>A | CA2618864183 | ACVRL1 | c.*101G>A (n.*101G>A)
| gnomAD v4 |
12 | g.51920994G>T | CA2618864182 | ACVRL1 | c.*101G>T (n.*101G>T)
| gnomAD v4 |
12 | g.51920994dup | CA2618864181 | ACVRL1 | c.*101dup (n.*101dup)
| gnomAD v4 |
12 | g.51920994_51920995insGTT | CA2795984026 | ACVRL1 | c.*101_*102insGTT (n.*101_*102insGTT)
| |
12 | g.51920995C>A | CA2618864184 | ACVRL1 | c.*102C>A (n.*102C>A)
| gnomAD v4 |
12 | g.51920995C>T | CA2795984027 | ACVRL1 | c.*102C>T (n.*102C>T)
| |
12 | g.51920997G>A | CA2618864187 | ACVRL1 | c.*104G>A (n.*104G>A)
| gnomAD v4 |
12 | g.51920997G>C | CA2618864188 | ACVRL1 | c.*104G>C (n.*104G>C)
| gnomAD v4 |
12 | g.51921000del | CA2618864186 | ACVRL1 | c.*107del (n.*107del)
| gnomAD v4 |
12 | g.51920998G>T | CA2618864189 | ACVRL1 | c.*105G>T (n.*105G>T)
| gnomAD v4 |
12 | g.51920999G>A | CA2618864191 | ACVRL1 | c.*106G>A (n.*106G>A)
| gnomAD v4 |
12 | g.51920999G>T | CA2618864193 | ACVRL1 | c.*106G>T (n.*106G>T)
| gnomAD v4 |
12 | g.51921000G>T | CA2795984028 | ACVRL1 | c.*107G>T (n.*107G>T)
| |
12 | g.51921001A>G | CA2618864195 | ACVRL1 | c.*108A>G (n.*108A>G)
| gnomAD v4 |
12 | g.51921001A>T | CA2795984029 | ACVRL1 | c.*108A>T (n.*108A>T)
| |
12 | g.51921003G>A | CA236367910 | ACVRL1 | c.*110G>A (n.*110G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51921003G= | CA2036242205 | ACVRL1 | c.*110G= (n.*110G=)
| |
12 | g.51921003G>T | CA2618864197 | ACVRL1 | c.*110G>T (n.*110G>T)
| gnomAD v4 |
12 | g.51921005del | CA2618864198 | ACVRL1 | c.*112del (n.*112del)
| gnomAD v4 |
12 | g.51921004G>C | CA2618864200 | ACVRL1 | c.*111G>C (n.*111G>C)
| gnomAD v4 |
12 | g.51921004G>T | CA2618864201 | ACVRL1 | c.*111G>T (n.*111G>T)
| gnomAD v4 |
12 | g.51921006C>A | CA2618864203 | ACVRL1 | c.*113C>A (n.*113C>A)
| gnomAD v4 |
12 | g.51921008G>A | CA2618864204 | ACVRL1 | c.*115G>A (n.*115G>A)
| gnomAD v4 |
12 | g.51921008G>T | CA2618864205 | ACVRL1 | c.*115G>T (n.*115G>T)
| gnomAD v4 |
12 | g.51921009C>A | CA2618864207 | ACVRL1 | c.*116C>A (n.*116C>A)
| gnomAD v4 |
12 | g.51921010T>A | CA2036242207 | ACVRL1 | c.*117T>A (n.*117T>A)
| dbSNP gnomAD v4 |
12 | g.51921010T>C | CA2618864209 | ACVRL1 | c.*117T>C (n.*117T>C)
| gnomAD v4 |
12 | g.51921010T= | CA2036242206 | ACVRL1 | c.*117T= (n.*117T=)
| |
12 | g.51921011G>A | CA2618864212 | ACVRL1 | c.*118G>A (n.*118G>A)
| gnomAD v4 |
12 | g.51921011G>T | CA2618864213 | ACVRL1 | c.*118G>T (n.*118G>T)
| gnomAD v4 |
12 | g.51921012C>A | CA2618864218 | ACVRL1 | c.*119C>A (n.*119C>A)
| gnomAD v4 |
12 | g.51921012C= | CA2036242209 | ACVRL1 | c.*119C= (n.*119C=)
| |
12 | g.51921012C>G | CA2618864216 | ACVRL1 | c.*119C>G (n.*119C>G)
| gnomAD v4 |
12 | g.51921012C>T | CA236367919 | ACVRL1 | c.*119C>T (n.*119C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51921013G>A | CA10642696 | ACVRL1 | c.*120G>A (n.*120G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51921013G>C | CA2618864225 | ACVRL1 | c.*120G>C (n.*120G>C)
| gnomAD v4 |
12 | g.51921013G= | CA2036242213 | ACVRL1 | c.*120G= (n.*120G=)
| |
12 | g.51921013G>T | CA2510417362 | ACVRL1 | c.*120G>T (n.*120G>T)
| gnomAD v4 |
12 | g.51921014C>A | CA2618864228 | ACVRL1 | c.*121C>A (n.*121C>A)
| gnomAD v4 |
12 | g.51921014C>T | CA2618864230 | ACVRL1 | c.*121C>T (n.*121C>T)
| gnomAD v4 |
12 | g.51921015C>G | CA2618864232 | ACVRL1 | c.*122C>G (n.*122C>G)
| gnomAD v4 |
12 | g.51921015C>T | CA2618864237 | ACVRL1 | c.*122C>T (n.*122C>T)
| gnomAD v4 |
12 | g.51921017G>A | CA236367931 | ACVRL1 | c.*124G>A (n.*124G>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51921017G= | CA2036242216 | ACVRL1 | c.*124G= (n.*124G=)
| |
12 | g.51921017G>T | CA2618864239 | ACVRL1 | c.*124G>T (n.*124G>T)
| gnomAD v4 |
12 | g.51921017_51921018insT | CA2559790151 | ACVRL1 | c.*124_*125insT (n.*124_*125insT)
| |
12 | g.51921018C>A | CA236367938 | ACVRL1 | c.*125C>A (n.*125C>A)
| dbSNP gnomAD v4 |
12 | g.51921018C= | CA2036242220 | ACVRL1 | c.*125C= (n.*125C=)
| |
12 | g.51921018C>T | CA2618864242 | ACVRL1 | c.*125C>T (n.*125C>T)
| gnomAD v4 |
12 | g.51921019C>A | CA2618864244 | ACVRL1 | c.*126C>A (n.*126C>A)
| gnomAD v4 |
12 | g.51921020T>C | CA2618864245 | ACVRL1 | c.*127T>C (n.*127T>C)
| gnomAD v4 |
12 | g.51921020T>G | CA2557757838 | ACVRL1 | c.*127T>G (n.*127T>G)
| |
12 | g.51921021G>A | CA2528752335 | ACVRL1 | c.*128G>A (n.*128G>A)
| gnomAD v4 |
12 | g.51921021G>C | CA605053203 | ACVRL1 | c.*128G>C (n.*128G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51921021G= | CA2036242223 | ACVRL1 | c.*128G= (n.*128G=)
| |
12 | g.51921022C>A | CA2618864247 | ACVRL1 | c.*129C>A (n.*129C>A)
| gnomAD v4 |
12 | g.51921022C>T | CA2518591148 | ACVRL1 | c.*129C>T (n.*129C>T)
| gnomAD v4 |
12 | g.51921024C>A | CA2618864253 | ACVRL1 | c.*131C>A (n.*131C>A)
| gnomAD v4 |
12 | g.51921024C= | CA2036242225 | ACVRL1 | c.*131C= (n.*131C=)
| |
12 | g.51921024C>G | CA2036242226 | ACVRL1 | c.*131C>G (n.*131C>G)
| dbSNP gnomAD v4 |
12 | g.51921024C>T | CA10641807 | ACVRL1 | c.*131C>T (n.*131C>T)
| ClinVar dbSNP gnomAD v4 |
12 | g.51921025G>A | CA236367952 | ACVRL1 | c.*132G>A (n.*132G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51921025G= | CA2036242229 | ACVRL1 | c.*132G= (n.*132G=)
| |
12 | g.51921025G>T | CA2618864260 | ACVRL1 | c.*132G>T (n.*132G>T)
| gnomAD v4 |
12 | g.51921026G>A | CA2618864263 | ACVRL1 | c.*133G>A (n.*133G>A)
| gnomAD v4 |
12 | g.51921026G>T | CA2618864264 | ACVRL1 | c.*133G>T (n.*133G>T)
| gnomAD v4 |
12 | g.51921027C>A | CA236367957 | ACVRL1 | c.*134C>A (n.*134C>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51921027C= | CA2036242232 | ACVRL1 | c.*134C= (n.*134C=)
| |
12 | g.51921027C>T | CA2618864268 | ACVRL1 | c.*134C>T (n.*134C>T)
| gnomAD v4 |
12 | g.51921031del | CA2618864271 | ACVRL1 | c.*138del (n.*138del)
| gnomAD v4 |
12 | g.51921028_51921036dup | CA2618864267 | ACVRL1 | c.*135_*143dup (n.*135_*143dup)
| gnomAD v4 |
12 | g.51921028C>A | CA2618864275 | ACVRL1 | c.*135C>A (n.*135C>A)
| gnomAD v4 |
12 | g.51921028C>G | CA2618864277 | ACVRL1 | c.*135C>G (n.*135C>G)
| gnomAD v4 |
12 | g.51921028C>T | CA2618864278 | ACVRL1 | c.*135C>T (n.*135C>T)
| gnomAD v4 |
12 | g.51921031C>A | CA2618864280 | ACVRL1 | c.*138C>A (n.*138C>A)
| gnomAD v4 |
12 | g.51921031C= | CA2036242234 | ACVRL1 | c.*138C= (n.*138C=)
| |
12 | g.51921031C>G | CA2618864281 | ACVRL1 | c.*138C>G (n.*138C>G)
| gnomAD v4 |
12 | g.51921031C>T | CA689770132 | ACVRL1 | c.*138C>T (n.*138C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.51921032A= | CA2036242235 | ACVRL1 | c.*139A= (n.*139A=)
| |
12 | g.51921032A>G | CA2036242237 | ACVRL1 | c.*139A>G (n.*139A>G)
| dbSNP |
12 | g.51921033G>T | CA2618864285 | ACVRL1 | c.*140G>T (n.*140G>T)
| gnomAD v4 |
12 | g.51921034C>A | CA2618864287 | ACVRL1 | c.*141C>A (n.*141C>A)
| gnomAD v4 |
12 | g.51921034C= | CA2036242238 | ACVRL1 | c.*141C= (n.*141C=)
| |
12 | g.51921034C>T | CA605053206 | ACVRL1 | c.*141C>T (n.*141C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51921035C>A | CA2618864289 | ACVRL1 | c.*142C>A (n.*142C>A)
| gnomAD v4 |
12 | g.51921036C>A | CA2618864290 | ACVRL1 | c.*143C>A (n.*143C>A)
| gnomAD v4 |
12 | g.51921037A= | CA2036242239 | ACVRL1 | c.*144A= (n.*144A=)
| |
12 | g.51921037A>C | CA2036242240 | ACVRL1 | c.*144A>C (n.*144A>C)
| dbSNP gnomAD v4 |
12 | g.51921037A>G | CA2618864294 | ACVRL1 | c.*144A>G (n.*144A>G)
| gnomAD v4 |
12 | g.51921037A>T | CA236367959 | ACVRL1 | c.*144A>T (n.*144A>T)
| dbSNP gnomAD v4 |
12 | g.51921038C>A | CA2618864296 | ACVRL1 | c.*145C>A (n.*145C>A)
| gnomAD v4 |
12 | g.51921038C>T | CA2559790919 | ACVRL1 | c.*145C>T (n.*145C>T)
| gnomAD v4 |
12 | g.51921040del | CA2618864295 | ACVRL1 | c.*147del (n.*147del)
| gnomAD v4 |
12 | g.51921039C>A | CA2618864300 | ACVRL1 | c.*146C>A (n.*146C>A)
| gnomAD v4 |
12 | g.51921039C>T | CA2618864301 | ACVRL1 | c.*146C>T (n.*146C>T)
| gnomAD v4 |
12 | g.51921040C>A | CA2618864302 | ACVRL1 | c.*147C>A (n.*147C>A)
| gnomAD v4 |
12 | g.51921040C>T | CA2618864303 | ACVRL1 | c.*147C>T (n.*147C>T)
| gnomAD v4 |
12 | g.51921042G>A | CA2618864305 | ACVRL1 | c.*149G>A (n.*149G>A)
| gnomAD v4 |
12 | g.51921042G>T | CA2618864306 | ACVRL1 | c.*149G>T (n.*149G>T)
| gnomAD v4 |
12 | g.51921043C>A | CA2618864307 | ACVRL1 | c.*150C>A (n.*150C>A)
| gnomAD v4 |