| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 12 | g.51921044C>A | CA2618864308 | ACVRL1 | c.*151C>A (n.*151C>A) | gnomAD v4 |
| 12 | g.51921049dup | CA2618864310 | ACVRL1 | c.*156dup (n.*156dup) | gnomAD v4 |
| 12 | g.51921049del | CA2618864311 | ACVRL1 | c.*156del (n.*156del) | gnomAD v4 |
| 12 | g.51921046A>G | CA2618864312 | ACVRL1 | c.*153A>G (n.*153A>G) | gnomAD v4 |
| 12 | g.51921048A>T | CA2520570538 | ACVRL1 | c.*155A>T (n.*155A>T) | gnomAD v4 |
| 12 | g.51921049A= | CA2036242242 | ACVRL1 | c.*156A= (n.*156A=) | |
| 12 | g.51921049A>C | CA236367965 | ACVRL1 | c.*156A>C (n.*156A>C) | dbSNP gnomAD v4 |
| 12 | g.51921049A>G | CA236367971 | ACVRL1 | c.*156A>G (n.*156A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921050T>C | CA2596578564 | ACVRL1 | c.*157T>C (n.*157T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921051A>C | CA2618864315 | ACVRL1 | c.*158A>C (n.*158A>C) | gnomAD v4 |
| 12 | g.51921051A>G | CA2618864316 | ACVRL1 | c.*158A>G (n.*158A>G) | gnomAD v4 |
| 12 | g.51921052C>A | CA2618864317 | ACVRL1 | c.*159C>A (n.*159C>A) | gnomAD v4 |
| 12 | g.51921052C>T | CA2618864318 | ACVRL1 | c.*159C>T (n.*159C>T) | gnomAD v4 |
| 12 | g.51921053A>G | CA2618864320 | ACVRL1 | c.*160A>G (n.*160A>G) | gnomAD v4 |
| 12 | g.51921054G>T | CA2618864322 | ACVRL1 | c.*161G>T (n.*161G>T) | dbSNP gnomAD v4 |
| 12 | g.51921055C>A | CA2618864325 | ACVRL1 | c.*162C>A (n.*162C>A) | gnomAD v4 |
| 12 | g.51921055C>T | CA2618864324 | ACVRL1 | c.*162C>T (n.*162C>T) | gnomAD v4 |
| 12 | g.51921056T>C | CA2795984032 | ACVRL1 | c.*163T>C (n.*163T>C) | |
| 12 | g.51921056T>G | CA236367973 | ACVRL1 | c.*163T>G (n.*163T>G) | dbSNP |
| 12 | g.51921056T= | CA2036242245 | ACVRL1 | c.*163T= (n.*163T=) | |
| 12 | g.51921057G>A | CA2618864326 | ACVRL1 | c.*164G>A (n.*164G>A) | gnomAD v4 |
| 12 | g.51921058G>T | CA2618864327 | ACVRL1 | c.*165G>T (n.*165G>T) | gnomAD v4 |
| 12 | g.51921059G>A | CA2618864328 | ACVRL1 | c.*166G>A (n.*166G>A) | gnomAD v4 |
| 12 | g.51921059G>T | CA2618864330 | ACVRL1 | c.*166G>T (n.*166G>T) | gnomAD v4 |
| 12 | g.51921060C>A | CA2618864333 | ACVRL1 | c.*167C>A (n.*167C>A) | gnomAD v4 |
| 12 | g.51921060C= | CA2036242246 | ACVRL1 | c.*167C= (n.*167C=) | |
| 12 | g.51921061T>A | CA2618864334 | ACVRL1 | c.*168T>A (n.*168T>A) | gnomAD v4 |
| 12 | g.51921061T>C | CA2618864335 | ACVRL1 | c.*168T>C (n.*168T>C) | gnomAD v4 |
| 12 | g.51921061_51921064dup | CA2036242247 | ACVRL1 | c.*168_*171dup (n.*168_*171dup) | dbSNP gnomAD v4 |
| 12 | g.51921062G>A | CA2618864336 | ACVRL1 | c.*169G>A (n.*169G>A) | gnomAD v4 |
| 12 | g.51921062G>C | CA2618864337 | ACVRL1 | c.*169G>C (n.*169G>C) | gnomAD v4 |
| 12 | g.51921063A>C | CA2618864338 | ACVRL1 | c.*170A>C (n.*170A>C) | gnomAD v4 |
| 12 | g.51921064A>G | CA2618864340 | ACVRL1 | c.*171A>G (n.*171A>G) | gnomAD v4 |
| 12 | g.51921066C= | CA2036242248 | ACVRL1 | c.*173C= (n.*173C=) | |
| 12 | g.51921066C>G | CA2036242250 | ACVRL1 | c.*173C>G (n.*173C>G) | dbSNP |
| 12 | g.51921066C>T | CA2618864342 | ACVRL1 | c.*173C>T (n.*173C>T) | dbSNP gnomAD v4 |
| 12 | g.51921067C>A | CA2618864343 | ACVRL1 | c.*174C>A (n.*174C>A) | gnomAD v4 |
| 12 | g.51921068T>A | CA2618864344 | ACVRL1 | c.*175T>A (n.*175T>A) | gnomAD v4 |
| 12 | g.51921068T>C | CA2505633673 | ACVRL1 | c.*175T>C (n.*175T>C) | gnomAD v4 |
| 12 | g.51921069G>C | CA2618864345 | ACVRL1 | c.*176G>C (n.*176G>C) | gnomAD v4 |
| 12 | g.51921069G>T | CA2618864346 | ACVRL1 | c.*176G>T (n.*176G>T) | gnomAD v4 |
| 12 | g.51921071del | CA2618864347 | ACVRL1 | c.*178del (n.*178del) | gnomAD v4 |
| 12 | g.51921071T>G | CA2618864348 | ACVRL1 | c.*178T>G (n.*178T>G) | gnomAD v4 |
| 12 | g.51921072C>A | CA2618864349 | ACVRL1 | c.*179C>A (n.*179C>A) | gnomAD v4 |
| 12 | g.51921073C= | CA2036242251 | ACVRL1 | c.*180C= (n.*180C=) | |
| 12 | g.51921073C>G | CA2036242252 | ACVRL1 | c.*180C>G (n.*180C>G) | dbSNP |
| 12 | g.51921073C>T | CA2618864350 | ACVRL1 | c.*180C>T (n.*180C>T) | gnomAD v4 |
| 12 | g.51921074C>A | CA2618864351 | ACVRL1 | c.*181C>A (n.*181C>A) | gnomAD v4 |
| 12 | g.51921076T>A | CA2618864352 | ACVRL1 | c.*183T>A (n.*183T>A) | gnomAD v4 |
| 12 | g.51921077G>A | CA2618864353 | ACVRL1 | c.*184G>A (n.*184G>A) | gnomAD v4 |
| 12 | g.51921078C>A | CA2618864354 | ACVRL1 | c.*185C>A (n.*185C>A) | gnomAD v4 |
| 12 | g.51921078C>T | CA2618864355 | ACVRL1 | c.*185C>T (n.*185C>T) | gnomAD v4 |
| 12 | g.51921079T>C | CA2618864356 | ACVRL1 | c.*186T>C (n.*186T>C) | gnomAD v4 |
| 12 | g.51921080G>A | CA2618864357 | ACVRL1 | c.*187G>A (n.*187G>A) | gnomAD v4 |
| 12 | g.51921082C>A | CA2618864358 | ACVRL1 | c.*189C>A (n.*189C>A) | gnomAD v4 |
| 12 | g.51921083T>C | CA2795984034 | ACVRL1 | c.*190T>C (n.*190T>C) | |
| 12 | g.51921084G>A | CA2618864359 | ACVRL1 | c.*191G>A (n.*191G>A) | gnomAD v4 |
| 12 | g.51921084G>T | CA2618864360 | ACVRL1 | c.*191G>T (n.*191G>T) | gnomAD v4 |
| 12 | g.51921085G>C | CA2036242254 | ACVRL1 | c.*192G>C (n.*192G>C) | dbSNP |
| 12 | g.51921085G= | CA2036242253 | ACVRL1 | c.*192G= (n.*192G=) | |
| 12 | g.51921085G>T | CA2618864361 | ACVRL1 | c.*192G>T (n.*192G>T) | gnomAD v4 |
| 12 | g.51921086C>A | CA2618864362 | ACVRL1 | c.*193C>A (n.*193C>A) | gnomAD v4 |
| 12 | g.51921086C= | CA2036242255 | ACVRL1 | c.*193C= (n.*193C=) | |
| 12 | g.51921086C>T | CA2036242256 | ACVRL1 | c.*193C>T (n.*193C>T) | dbSNP gnomAD v4 |
| 12 | g.51921087C>A | CA2618864363 | ACVRL1 | c.*194C>A (n.*194C>A) | gnomAD v4 |
| 12 | g.51921088T>C | CA605053209 | ACVRL1 | c.*195T>C (n.*195T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921088T= | CA2036242258 | ACVRL1 | c.*195T= (n.*195T=) | |
| 12 | g.51921089G>A | CA2618864364 | ACVRL1 | c.*196G>A (n.*196G>A) | gnomAD v4 |
| 12 | g.51921089G>C | CA2618864365 | ACVRL1 | c.*196G>C (n.*196G>C) | gnomAD v4 |
| 12 | g.51921089G>T | CA2618864366 | ACVRL1 | c.*196G>T (n.*196G>T) | gnomAD v4 |
| 12 | g.51921090C>A | CA2618864367 | ACVRL1 | c.*197C>A (n.*197C>A) | gnomAD v4 |
| 12 | g.51921090C= | CA2036242259 | ACVRL1 | c.*197C= (n.*197C=) | |
| 12 | g.51921090C>T | CA689770137 | ACVRL1 | c.*197C>T (n.*197C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921091T>A | CA2618864369 | ACVRL1 | c.*198T>A (n.*198T>A) | gnomAD v4 |
| 12 | g.51921092C>A | CA2618864370 | ACVRL1 | c.*199C>A (n.*199C>A) | gnomAD v4 |
| 12 | g.51921093A= | CA2036242261 | ACVRL1 | c.*200A= (n.*200A=) | |
| 12 | g.51921093A>C | CA2618864371 | ACVRL1 | c.*200A>C (n.*200A>C) | gnomAD v4 |
| 12 | g.51921093A>G | CA10637922 | ACVRL1 | c.*200A>G (n.*200A>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51921094A= | CA2036242264 | ACVRL1 | c.*201A= (n.*201A=) | |
| 12 | g.51921094A>C | CA236367979 | ACVRL1 | c.*201A>C (n.*201A>C) | dbSNP gnomAD v4 |
| 12 | g.51921094A>G | CA2618864374 | ACVRL1 | c.*201A>G (n.*201A>G) | gnomAD v4 |
| 12 | g.51921095A>G | CA2618864375 | ACVRL1 | c.*202A>G (n.*202A>G) | gnomAD v4 |
| 12 | g.51921096G>T | CA2618864376 | ACVRL1 | c.*203G>T (n.*203G>T) | gnomAD v4 |
| 12 | g.51921097C>A | CA2036242266 | ACVRL1 | c.*204C>A (n.*204C>A) | dbSNP gnomAD v4 |
| 12 | g.51921097C= | CA2036242267 | ACVRL1 | c.*204C= (n.*204C=) | |
| 12 | g.51921097C>T | CA236368003 | ACVRL1 | c.*204C>T (n.*204C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921098G>A | CA10642697 | ACVRL1 | c.*205G>A (n.*205G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921098G>C | CA2036242272 | ACVRL1 | c.*205G>C (n.*205G>C) | dbSNP |
| 12 | g.51921098G= | CA2036242270 | ACVRL1 | c.*205G= (n.*205G=) | |
| 12 | g.51921098G>T | CA236368005 | ACVRL1 | c.*205G>T (n.*205G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921099G>A | CA2618864383 | ACVRL1 | c.*206G>A (n.*206G>A) | gnomAD v4 |
| 12 | g.51921099G>T | CA2618864384 | ACVRL1 | c.*206G>T (n.*206G>T) | gnomAD v4 |
| 12 | g.51921100C>A | CA2618864386 | ACVRL1 | c.*207C>A (n.*207C>A) | gnomAD v4 |
| 12 | g.51921100C>T | CA2618864387 | ACVRL1 | c.*207C>T (n.*207C>T) | gnomAD v4 |
| 12 | g.51921101A>G | CA2618864388 | ACVRL1 | c.*208A>G (n.*208A>G) | gnomAD v4 |
| 12 | g.51921103G>A | CA2795984035 | ACVRL1 | c.*210G>A (n.*210G>A) | |
| 12 | g.51921103G>T | CA2618864389 | ACVRL1 | c.*210G>T (n.*210G>T) | gnomAD v4 |
| 12 | g.51921104C>A | CA2618864390 | ACVRL1 | c.*211C>A (n.*211C>A) | gnomAD v4 |
| 12 | g.51921104C= | CA2036242274 | ACVRL1 | c.*211C= (n.*211C=) | |
| 12 | g.51921104C>G | CA2036242275 | ACVRL1 | c.*211C>G (n.*211C>G) | dbSNP |
| 12 | g.51921104C>T | CA2618864391 | ACVRL1 | c.*211C>T (n.*211C>T) | gnomAD v4 |
| 12 | g.51921105T>C | CA2618864392 | ACVRL1 | c.*212T>C (n.*212T>C) | gnomAD v4 |
| 12 | g.51921105T>G | CA689770148 | ACVRL1 | c.*212T>G (n.*212T>G) | dbSNP |
| 12 | g.51921105T= | CA2036242276 | ACVRL1 | c.*212T= (n.*212T=) | |
| 12 | g.51921106C>A | CA2618864393 | ACVRL1 | c.*213C>A (n.*213C>A) | gnomAD v4 |
| 12 | g.51921106C>T | CA2520580135 | ACVRL1 | c.*213C>T (n.*213C>T) | gnomAD v4 |
| 12 | g.51921107C= | CA2036242278 | ACVRL1 | c.*214C= (n.*214C=) | |
| 12 | g.51921107C>T | CA605053222 | ACVRL1 | c.*214C>T (n.*214C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921108C>A | CA947669176 | ACVRL1 | c.*215C>A (n.*215C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921108C= | CA2036242279 | ACVRL1 | c.*215C= (n.*215C=) | |
| 12 | g.51921108C>T | CA2795984036 | ACVRL1 | c.*215C>T (n.*215C>T) | |
| 12 | g.51921109T>C | CA2036242281 | ACVRL1 | c.*216T>C (n.*216T>C) | dbSNP gnomAD v4 |
| 12 | g.51921109T>G | CA2618864395 | ACVRL1 | c.*216T>G (n.*216T>G) | gnomAD v4 |
| 12 | g.51921109T= | CA2036242280 | ACVRL1 | c.*216T= (n.*216T=) | |
| 12 | g.51921110_51921128dup | CA2618864397 | ACVRL1 | c.*217_*235dup (n.*217_*235dup) | gnomAD v4 |
| 12 | g.51921111A= | CA2036242283 | ACVRL1 | c.*218A= (n.*218A=) | |
| 12 | g.51921111A>C | CA689770155 | ACVRL1 | c.*218A>C (n.*218A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921112C>A | CA236368008 | ACVRL1 | c.*219C>A (n.*219C>A) | dbSNP gnomAD v4 |
| 12 | g.51921112C= | CA2036242285 | ACVRL1 | c.*219C= (n.*219C=) | |
| 12 | g.51921112C>T | CA236368012 | ACVRL1 | c.*219C>T (n.*219C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921113G>A | CA605053225 | ACVRL1 | c.*220G>A (n.*220G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921113G>C | CA2618864405 | ACVRL1 | c.*220G>C (n.*220G>C) | gnomAD v4 |
| 12 | g.51921113G= | CA2036242287 | ACVRL1 | c.*220G= (n.*220G=) | |
| 12 | g.51921113G>T | CA2618864403 | ACVRL1 | c.*220G>T (n.*220G>T) | gnomAD v4 |
| 12 | g.51921114C>A | CA2618864407 | ACVRL1 | c.*221C>A (n.*221C>A) | gnomAD v4 |
| 12 | g.51921116T>C | CA605053227 | ACVRL1 | c.*223T>C (n.*223T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921116T>G | CA2618864409 | ACVRL1 | c.*223T>G (n.*223T>G) | gnomAD v4 |
| 12 | g.51921116T= | CA2036242288 | ACVRL1 | c.*223T= (n.*223T=) | |
| 12 | g.51921117G>A | CA2036242290 | ACVRL1 | c.*224G>A (n.*224G>A) | dbSNP gnomAD v4 |
| 12 | g.51921117G= | CA2036242291 | ACVRL1 | c.*224G= (n.*224G=) | |
| 12 | g.51921117G>T | CA2618864411 | ACVRL1 | c.*224G>T (n.*224G>T) | gnomAD v4 |
| 12 | g.51921118G>A | CA2618864413 | ACVRL1 | c.*225G>A (n.*225G>A) | gnomAD v4 |
| 12 | g.51921118G>C | CA2618864415 | ACVRL1 | c.*225G>C (n.*225G>C) | gnomAD v4 |
| 12 | g.51921118G>T | CA2618864414 | ACVRL1 | c.*225G>T (n.*225G>T) | gnomAD v4 |
| 12 | g.51921119C>A | CA2036242293 | ACVRL1 | c.*226C>A (n.*226C>A) | dbSNP gnomAD v4 |
| 12 | g.51921119C= | CA2036242292 | ACVRL1 | c.*226C= (n.*226C=) | |
| 12 | g.51921120T>C | CA2618864417 | ACVRL1 | c.*227T>C (n.*227T>C) | gnomAD v4 |
| 12 | g.51921121C= | CA2036242294 | ACVRL1 | c.*228C= (n.*228C=) | |
| 12 | g.51921121C>G | CA2036242295 | ACVRL1 | c.*228C>G (n.*228C>G) | dbSNP gnomAD v4 |
| 12 | g.51921121C>T | CA2618864420 | ACVRL1 | c.*228C>T (n.*228C>T) | gnomAD v4 |
| 12 | g.51921122T>C | CA2618864422 | ACVRL1 | c.*229T>C (n.*229T>C) | gnomAD v4 |
| 12 | g.51921123C>A | CA2618864423 | ACVRL1 | c.*230C>A (n.*230C>A) | gnomAD v4 |
| 12 | g.51921125C>A | CA2618864424 | ACVRL1 | c.*232C>A (n.*232C>A) | gnomAD v4 |
| 12 | g.51921125C>G | CA2618864425 | ACVRL1 | c.*232C>G (n.*232C>G) | gnomAD v4 |
| 12 | g.51921126C>A | CA2618864426 | ACVRL1 | c.*233C>A (n.*233C>A) | gnomAD v4 |
| 12 | g.51921127C>A | CA2618864428 | ACVRL1 | c.*234C>A (n.*234C>A) | gnomAD v4 |
| 12 | g.51921127C= | CA2036242296 | ACVRL1 | c.*234C= (n.*234C=) | |
| 12 | g.51921127C>T | CA2036242297 | ACVRL1 | c.*234C>T (n.*234C>T) | dbSNP gnomAD v4 |
| 12 | g.51921128C>A | CA2618864429 | ACVRL1 | c.*235C>A (n.*235C>A) | gnomAD v4 |
| 12 | g.51921128C= | CA2036242298 | ACVRL1 | c.*235C= (n.*235C=) | |
| 12 | g.51921128C>G | CA2036242300 | ACVRL1 | c.*235C>G (n.*235C>G) | dbSNP gnomAD v4 |
| 12 | g.51921128C>T | CA236368021 | ACVRL1 | c.*235C>T (n.*235C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921129A>G | CA2618864432 | ACVRL1 | c.*236A>G (n.*236A>G) | gnomAD v4 |
| 12 | g.51921130C>A | CA2036242302 | ACVRL1 | c.*237C>A (n.*237C>A) | dbSNP gnomAD v4 |
| 12 | g.51921130C= | CA2036242301 | ACVRL1 | c.*237C= (n.*237C=) | |
| 12 | g.51921130C>T | CA2618864434 | ACVRL1 | c.*237C>T (n.*237C>T) | dbSNP gnomAD v4 |
| 12 | g.51921131C>A | CA2618864438 | ACVRL1 | c.*238C>A (n.*238C>A) | gnomAD v4 |
| 12 | g.51921131C>T | CA2618864440 | ACVRL1 | c.*238C>T (n.*238C>T) | gnomAD v4 |
| 12 | g.51921132C>A | CA2618864442 | ACVRL1 | c.*239C>A (n.*239C>A) | gnomAD v4 |
| 12 | g.51921132C>T | CA2618864443 | ACVRL1 | c.*239C>T (n.*239C>T) | gnomAD v4 |
| 12 | g.51921133C>A | CA2618864444 | ACVRL1 | c.*240C>A (n.*240C>A) | gnomAD v4 |
| 12 | g.51921134T>C | CA2618864446 | ACVRL1 | c.*241T>C (n.*241T>C) | gnomAD v4 |
| 12 | g.51921135A= | CA2036242305 | ACVRL1 | c.*242A= (n.*242A=) | |
| 12 | g.51921135A>C | CA2618864448 | ACVRL1 | c.*242A>C (n.*242A>C) | gnomAD v4 |
| 12 | g.51921135A>G | CA10633138 | ACVRL1 | c.*242A>G (n.*242A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921136T>G | CA2618864450 | ACVRL1 | c.*243T>G (n.*243T>G) | gnomAD v4 |
| 12 | g.51921137G>A | CA2618864452 | ACVRL1 | c.*244G>A (n.*244G>A) | gnomAD v4 |
| 12 | g.51921137G>T | CA2618864453 | ACVRL1 | c.*244G>T (n.*244G>T) | gnomAD v4 |
| 12 | g.51921138G>A | CA2618864456 | ACVRL1 | c.*245G>A (n.*245G>A) | gnomAD v4 |
| 12 | g.51921138G>T | CA2618864458 | ACVRL1 | c.*245G>T (n.*245G>T) | gnomAD v4 |
| 12 | g.51921139C>A | CA2618864463 | ACVRL1 | c.*246C>A (n.*246C>A) | gnomAD v4 |
| 12 | g.51921139C>T | CA2618864462 | ACVRL1 | c.*246C>T (n.*246C>T) | gnomAD v4 |