| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920924_51921022del | CA2618860403 | ACVRL1 | c.*31_*129del (n.*31_*129del) | gnomAD v4 |
| 12 | g.51920936_51921000del | CA2618860441 | ACVRL1 | c.*43_*107del (n.*43_*107del) | gnomAD v4 |
| 12 | g.51920938_51921000del | CA2618860823 | ACVRL1 | c.*45_*107del (n.*45_*107del) | gnomAD v4 |
| 12 | g.51920961_51921005del | CA2618864092 | ACVRL1 | c.*68_*112del (n.*68_*112del) | gnomAD v4 |
| 12 | g.51920965_51921005del | CA2618864102 | ACVRL1 | c.*72_*112del (n.*72_*112del) | 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 |
| 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 |