| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51921192G>C | CA654740861 | ACVRL1 | c.*299G>C (n.*299G>C) | COSMIC COSMIC |
| 12 | g.51921193A= | CA2036242356 | ACVRL1 | c.*300A= (n.*300A=) | |
| 12 | g.51921193A>C | CA947669236 | ACVRL1 | c.*300A>C (n.*300A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921193A>G | CA2618864563 | ACVRL1 | c.*300A>G (n.*300A>G) | gnomAD v4 |
| 12 | g.51921194G>C | CA2618864565 | ACVRL1 | c.*301G>C (n.*301G>C) | gnomAD v4 |
| 12 | g.51921195T>G | CA2036242358 | ACVRL1 | c.*302T>G (n.*302T>G) | dbSNP |
| 12 | g.51921195T= | CA2036242357 | ACVRL1 | c.*302T= (n.*302T=) | |
| 12 | g.51921196C>A | CA2513583826 | ACVRL1 | c.*303C>A (n.*303C>A) | gnomAD v4 |
| 12 | g.51921196C>T | CA2618864569 | ACVRL1 | c.*303C>T (n.*303C>T) | gnomAD v4 |
| 12 | g.51921196_51921198delinsCAG | CA2036242359 | ACVRL1 | c.*303_*305delinsCAG (n.*303_*305delinsCAG) | |
| 12 | g.51921197A>G | CA2618864570 | ACVRL1 | c.*304A>G (n.*304A>G) | gnomAD v4 |
| 12 | g.51921199_51921200del | CA689770194 | ACVRL1 | c.*306_*307del (n.*306_*307del) | dbSNP |
| 12 | g.51921198G>A | CA2618864571 | ACVRL1 | c.*305G>A (n.*305G>A) | gnomAD v4 |
| 12 | g.51921198G>T | CA2618864572 | ACVRL1 | c.*305G>T (n.*305G>T) | gnomAD v4 |
| 12 | g.51921199A>G | CA2618864573 | ACVRL1 | c.*306A>G (n.*306A>G) | gnomAD v4 |
| 12 | g.51921200G>C | CA2036242361 | ACVRL1 | c.*307G>C (n.*307G>C) | dbSNP |
| 12 | g.51921200G= | CA2036242360 | ACVRL1 | c.*307G= (n.*307G=) | |
| 12 | g.51921200G>T | CA2618864574 | ACVRL1 | c.*307G>T (n.*307G>T) | gnomAD v4 |
| 12 | g.51921201T>G | CA2036242364 | ACVRL1 | c.*308T>G (n.*308T>G) | dbSNP |
| 12 | g.51921201T= | CA2036242363 | ACVRL1 | c.*308T= (n.*308T=) | |
| 12 | g.51921202G>A | CA2618864575 | ACVRL1 | c.*309G>A (n.*309G>A) | gnomAD v4 |
| 12 | g.51921202G>T | CA2618864577 | ACVRL1 | c.*309G>T (n.*309G>T) | gnomAD v4 |
| 12 | g.51921202dup | CA2036242365 | ACVRL1 | c.*309dup (n.*309dup) | dbSNP |
| 12 | g.51921203C>A | CA2618864579 | ACVRL1 | c.*310C>A (n.*310C>A) | gnomAD v4 |
| 12 | g.51921203C>T | CA2618864580 | ACVRL1 | c.*310C>T (n.*310C>T) | gnomAD v4 |
| 12 | g.51921204C>A | CA2618864581 | ACVRL1 | c.*311C>A (n.*311C>A) | gnomAD v4 |
| 12 | g.51921206A>G | CA2618864582 | ACVRL1 | c.*313A>G (n.*313A>G) | gnomAD v4 |
| 12 | g.51921207G>A | CA2618864586 | ACVRL1 | c.*314G>A (n.*314G>A) | gnomAD v4 |
| 12 | g.51921207G>T | CA2618864584 | ACVRL1 | c.*314G>T (n.*314G>T) | gnomAD v4 |
| 12 | g.51921208C>A | CA2618864588 | ACVRL1 | c.*315C>A (n.*315C>A) | gnomAD v4 |
| 12 | g.51921208C= | CA2036242366 | ACVRL1 | c.*315C= (n.*315C=) | |
| 12 | g.51921208C>G | CA236368064 | ACVRL1 | c.*315C>G (n.*315C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921208C>T | CA2618864589 | ACVRL1 | c.*315C>T (n.*315C>T) | gnomAD v4 |
| 12 | g.51921209C>A | CA2618864590 | ACVRL1 | c.*316C>A (n.*316C>A) | gnomAD v4 |
| 12 | g.51921210A= | CA2036242368 | ACVRL1 | c.*317A= (n.*317A=) | |
| 12 | g.51921210A>G | CA2036242369 | ACVRL1 | c.*317A>G (n.*317A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921212G>T | CA2618864591 | ACVRL1 | c.*319G>T (n.*319G>T) | gnomAD v4 |
| 12 | g.51921213G>A | CA236368066 | ACVRL1 | c.*320G>A (n.*320G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921213G>C | CA2618864595 | ACVRL1 | c.*320G>C (n.*320G>C) | gnomAD v4 |
| 12 | g.51921213G= | CA2036242370 | ACVRL1 | c.*320G= (n.*320G=) | |
| 12 | g.51921213G>T | CA2618864597 | ACVRL1 | c.*320G>T (n.*320G>T) | gnomAD v4 |
| 12 | g.51921215A>G | CA2618864599 | ACVRL1 | c.*322A>G (n.*322A>G) | dbSNP gnomAD v4 |
| 12 | g.51921216T>G | CA2618864600 | ACVRL1 | c.*323T>G (n.*323T>G) | gnomAD v4 |
| 12 | g.51921222_51921227dup | CA2596578567 | ACVRL1 | c.*329_*334dup (n.*329_*334dup) | gnomAD v3 gnomAD v4 |
| 12 | g.51921218C>A | CA2618864602 | ACVRL1 | c.*325C>A (n.*325C>A) | gnomAD v4 |
| 12 | g.51921219C>A | CA2618864605 | ACVRL1 | c.*326C>A (n.*326C>A) | gnomAD v4 |
| 12 | g.51921219C>T | CA2618864607 | ACVRL1 | c.*326C>T (n.*326C>T) | gnomAD v4 |
| 12 | g.51921220A>G | CA2618864610 | ACVRL1 | c.*327A>G (n.*327A>G) | gnomAD v4 |
| 12 | g.51921221G>A | CA2618864612 | ACVRL1 | c.*328G>A (n.*328G>A) | gnomAD v4 |
| 12 | g.51921222T>A | CA2618864616 | ACVRL1 | c.*329T>A (n.*329T>A) | gnomAD v4 |
| 12 | g.51921222T>C | CA2618864614 | ACVRL1 | c.*329T>C (n.*329T>C) | gnomAD v4 |
| 12 | g.51921222T>G | CA2618864615 | ACVRL1 | c.*329T>G (n.*329T>G) | gnomAD v4 |
| 12 | g.51921223C>A | CA236368071 | ACVRL1 | c.*330C>A (n.*330C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921223C= | CA2036242372 | ACVRL1 | c.*330C= (n.*330C=) | |
| 12 | g.51921224C>A | CA2618864622 | ACVRL1 | c.*331C>A (n.*331C>A) | gnomAD v4 |
| 12 | g.51921224C= | CA2036242374 | ACVRL1 | c.*331C= (n.*331C=) | |
| 12 | g.51921224C>T | CA605053454 | ACVRL1 | c.*331C>T (n.*331C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921225C>A | CA2618864625 | ACVRL1 | c.*332C>A (n.*332C>A) | gnomAD v4 |
| 12 | g.51921226A>G | CA2569356311 | ACVRL1 | c.*333A>G (n.*333A>G) | gnomAD v4 |
| 12 | g.51921227G= | CA2036242375 | ACVRL1 | c.*334G= (n.*334G=) | |
| 12 | g.51921227G>T | CA689770199 | ACVRL1 | c.*334G>T (n.*334G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921229C>A | CA2618864628 | ACVRL1 | c.*336C>A (n.*336C>A) | gnomAD v4 |
| 12 | g.51921230T>C | CA2531065914 | ACVRL1 | c.*337T>C (n.*337T>C) | gnomAD v4 |
| 12 | g.51921231C>A | CA2618864632 | ACVRL1 | c.*338C>A (n.*338C>A) | gnomAD v4 |
| 12 | g.51921232A>C | CA2618864634 | ACVRL1 | c.*339A>C (n.*339A>C) | gnomAD v4 |
| 12 | g.51921232A>G | CA2618864635 | ACVRL1 | c.*339A>G (n.*339A>G) | gnomAD v4 |
| 12 | g.51921234A>G | CA2618864637 | ACVRL1 | c.*341A>G (n.*341A>G) | gnomAD v4 |
| 12 | g.51921234A>T | CA2618864636 | ACVRL1 | c.*341A>T (n.*341A>T) | gnomAD v4 |
| 12 | g.51921235G>A | CA654740867 | ACVRL1 | c.*342G>A (n.*342G>A) | COSMIC |
| 12 | g.51921235G>C | CA2036242378 | ACVRL1 | c.*342G>C (n.*342G>C) | dbSNP |
| 12 | g.51921235G= | CA2036242377 | ACVRL1 | c.*342G= (n.*342G=) | |
| 12 | g.51921235G>T | CA2618864640 | ACVRL1 | c.*342G>T (n.*342G>T) | gnomAD v4 |
| 12 | g.51921236C= | CA2036242379 | ACVRL1 | c.*343C= (n.*343C=) | |
| 12 | g.51921236C>G | CA2618864642 | ACVRL1 | c.*343C>G (n.*343C>G) | gnomAD v4 |
| 12 | g.51921236C>T | CA689770202 | ACVRL1 | c.*343C>T (n.*343C>T) | dbSNP gnomAD v4 |
| 12 | g.51921237C>A | CA2618864648 | ACVRL1 | c.*344C>A (n.*344C>A) | gnomAD v4 |
| 12 | g.51921237C= | CA2036242381 | ACVRL1 | c.*344C= (n.*344C=) | |
| 12 | g.51921237C>T | CA947669243 | ACVRL1 | c.*344C>T (n.*344C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921238C>A | CA2618864650 | ACVRL1 | c.*345C>A (n.*345C>A) | gnomAD v4 |
| 12 | g.51921238C= | CA2036242382 | ACVRL1 | c.*345C= (n.*345C=) | |
| 12 | g.51921238C>T | CA947669245 | ACVRL1 | c.*345C>T (n.*345C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921239G>A | CA236368081 | ACVRL1 | c.*346G>A (n.*346G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921239G>C | CA236368087 | ACVRL1 | c.*346G>C (n.*346G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51921239G= | CA2036242383 | ACVRL1 | c.*346G= (n.*346G=) | |
| 12 | g.51921239G>T | CA2618864654 | ACVRL1 | c.*346G>T (n.*346G>T) | gnomAD v4 |
| 12 | g.51921241G>A | CA2537969075 | ACVRL1 | c.*348G>A (n.*348G>A) | |
| 12 | g.51921241G>T | CA2618864656 | ACVRL1 | c.*348G>T (n.*348G>T) | gnomAD v4 |
| 12 | g.51921242C>A | CA2618864657 | ACVRL1 | c.*349C>A (n.*349C>A) | gnomAD v4 |
| 12 | g.51921242C>T | CA2618864660 | ACVRL1 | c.*349C>T (n.*349C>T) | gnomAD v4 |
| 12 | g.51921243C>T | CA2618864661 | ACVRL1 | c.*350C>T (n.*350C>T) | gnomAD v4 |
| 12 | g.51921244T>A | CA2036242386 | ACVRL1 | c.*351T>A (n.*351T>A) | dbSNP gnomAD v4 |
| 12 | g.51921244T>C | CA2618864662 | ACVRL1 | c.*351T>C (n.*351T>C) | gnomAD v4 |
| 12 | g.51921244T= | CA2036242385 | ACVRL1 | c.*351T= (n.*351T=) | |
| 12 | g.51921245G>A | CA2618864665 | ACVRL1 | c.*352G>A (n.*352G>A) | gnomAD v4 |
| 12 | g.51921245G>C | CA2618864666 | ACVRL1 | c.*352G>C (n.*352G>C) | gnomAD v4 |
| 12 | g.51921245G>T | CA2618864667 | ACVRL1 | c.*352G>T (n.*352G>T) | gnomAD v4 |
| 12 | g.51921246C>A | CA2618864668 | ACVRL1 | c.*353C>A (n.*353C>A) | gnomAD v4 |
| 12 | g.51921246C>T | CA2618864669 | ACVRL1 | c.*353C>T (n.*353C>T) | gnomAD v4 |
| 12 | g.51921247A= | CA2036242388 | ACVRL1 | c.*354A= (n.*354A=) | |
| 12 | g.51921247A>G | CA947669255 | ACVRL1 | c.*354A>G (n.*354A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921247A>T | CA2618864671 | ACVRL1 | c.*354A>T (n.*354A>T) | gnomAD v4 |
| 12 | g.51921248C>A | CA654740871 | ACVRL1 | c.*355C>A (n.*355C>A) | dbSNP gnomAD v4 COSMIC |
| 12 | g.51921248C= | CA2036242389 | ACVRL1 | c.*355C= (n.*355C=) | |
| 12 | g.51921248C>T | CA2618864675 | ACVRL1 | c.*355C>T (n.*355C>T) | gnomAD v4 |
| 12 | g.51921249T>A | CA2618864678 | ACVRL1 | c.*356T>A (n.*356T>A) | gnomAD v4 |
| 12 | g.51921251T>A | CA2618864680 | ACVRL1 | c.*358T>A (n.*358T>A) | gnomAD v4 |
| 12 | g.51921252G>A | CA2506446067 | ACVRL1 | c.*359G>A (n.*359G>A) | gnomAD v4 |
| 12 | g.51921252G= | CA2036242392 | ACVRL1 | c.*359G= (n.*359G=) | |
| 12 | g.51921252G>T | CA2036242390 | ACVRL1 | c.*359G>T (n.*359G>T) | dbSNP gnomAD v4 |
| 12 | g.51921253C>A | CA2618864686 | ACVRL1 | c.*360C>A (n.*360C>A) | gnomAD v4 |
| 12 | g.51921253C>G | CA2618864684 | ACVRL1 | c.*360C>G (n.*360C>G) | gnomAD v4 |
| 12 | g.51921253C>T | CA2618864683 | ACVRL1 | c.*360C>T (n.*360C>T) | gnomAD v4 |
| 12 | g.51921257dup | CA2618864685 | ACVRL1 | c.*364dup (n.*364dup) | gnomAD v4 |
| 12 | g.51921254C>A | CA2618864690 | ACVRL1 | c.*361C>A (n.*361C>A) | gnomAD v4 |
| 12 | g.51921255C= | CA2036242394 | ACVRL1 | c.*362C= (n.*362C=) | |
| 12 | g.51921255C>G | CA236368093 | ACVRL1 | c.*362C>G (n.*362C>G) | dbSNP |
| 12 | g.51921255C>T | CA236368094 | ACVRL1 | c.*362C>T (n.*362C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921256C>A | CA2618864694 | ACVRL1 | c.*363C>A (n.*363C>A) | gnomAD v4 |
| 12 | g.51921256C>T | CA2618864696 | ACVRL1 | c.*363C>T (n.*363C>T) | gnomAD v4 |
| 12 | g.51921257C>A | CA2618864698 | ACVRL1 | c.*364C>A (n.*364C>A) | gnomAD v4 |
| 12 | g.51921257C>T | CA2553302430 | ACVRL1 | c.*364C>T (n.*364C>T) | |
| 12 | g.51921258T>C | CA2618864699 | ACVRL1 | c.*365T>C (n.*365T>C) | gnomAD v4 |
| 12 | g.51921258T>G | CA2618864700 | ACVRL1 | c.*365T>G (n.*365T>G) | gnomAD v4 |
| 12 | g.51921259G>A | CA689770208 | ACVRL1 | c.*366G>A (n.*366G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921259G= | CA2036242396 | ACVRL1 | c.*366G= (n.*366G=) | |
| 12 | g.51921259G>T | CA2618864701 | ACVRL1 | c.*366G>T (n.*366G>T) | gnomAD v4 |
| 12 | g.51921260C>A | CA2618864704 | ACVRL1 | c.*367C>A (n.*367C>A) | gnomAD v4 |
| 12 | g.51921260C= | CA2036242397 | ACVRL1 | c.*367C= (n.*367C=) | |
| 12 | g.51921260C>T | CA236368095 | ACVRL1 | c.*367C>T (n.*367C>T) | dbSNP gnomAD v4 |
| 12 | g.51921262del | CA2618864703 | ACVRL1 | c.*369del (n.*369del) | gnomAD v4 |
| 12 | g.51921261C>A | CA2618864706 | ACVRL1 | c.*368C>A (n.*368C>A) | gnomAD v4 |
| 12 | g.51921262C>A | CA2618864708 | ACVRL1 | c.*369C>A (n.*369C>A) | gnomAD v4 |
| 12 | g.51921262C= | CA2036242399 | ACVRL1 | c.*369C= (n.*369C=) | |
| 12 | g.51921262C>T | CA947669264 | ACVRL1 | c.*369C>T (n.*369C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921263T>C | CA2618864710 | ACVRL1 | c.*370T>C (n.*370T>C) | gnomAD v4 |
| 12 | g.51921264T>A | CA2618864711 | ACVRL1 | c.*371T>A (n.*371T>A) | gnomAD v4 |
| 12 | g.51921264T>C | CA2618864713 | ACVRL1 | c.*371T>C (n.*371T>C) | gnomAD v4 |
| 12 | g.51921265G>A | CA236368096 | ACVRL1 | c.*372G>A (n.*372G>A) | dbSNP |
| 12 | g.51921265G>C | CA2618864715 | ACVRL1 | c.*372G>C (n.*372G>C) | gnomAD v4 |
| 12 | g.51921265G= | CA2036242400 | ACVRL1 | c.*372G= (n.*372G=) | |
| 12 | g.51921265G>T | CA2036242402 | ACVRL1 | c.*372G>T (n.*372G>T) | dbSNP |
| 12 | g.51921266A= | CA2036242403 | ACVRL1 | c.*373A= (n.*373A=) | |
| 12 | g.51921266A>G | CA2036242404 | ACVRL1 | c.*373A>G (n.*373A>G) | dbSNP gnomAD v4 |
| 12 | g.51921268C>A | CA2618864719 | ACVRL1 | c.*375C>A (n.*375C>A) | gnomAD v4 |
| 12 | g.51921269A>G | CA2618864721 | ACVRL1 | c.*376A>G (n.*376A>G) | gnomAD v4 |
| 12 | g.51921270A>C | CA2618864723 | ACVRL1 | c.*377A>C (n.*377A>C) | gnomAD v4 |
| 12 | g.51921270A>G | CA2512129741 | ACVRL1 | c.*377A>G (n.*377A>G) | |
| 12 | g.51921271C>A | CA2618864726 | ACVRL1 | c.*378C>A (n.*378C>A) | gnomAD v4 |
| 12 | g.51921271C= | CA2036242405 | ACVRL1 | c.*378C= (n.*378C=) | |
| 12 | g.51921271C>G | CA689770213 | ACVRL1 | c.*378C>G (n.*378C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921271C>T | CA689770211 | ACVRL1 | c.*378C>T (n.*378C>T) | dbSNP |
| 12 | g.51921272C>A | CA236368101 | ACVRL1 | c.*379C>A (n.*379C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921272C= | CA2036242407 | ACVRL1 | c.*379C= (n.*379C=) | |
| 12 | g.51921272C>T | CA2596578568 | ACVRL1 | c.*379C>T (n.*379C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921273C>A | CA2523818143 | ACVRL1 | c.*380C>A (n.*380C>A) | gnomAD v4 |
| 12 | g.51921274C>A | CA2618864731 | ACVRL1 | c.*381C>A (n.*381C>A) | gnomAD v4 |
| 12 | g.51921274C>T | CA2618864733 | ACVRL1 | c.*381C>T (n.*381C>T) | gnomAD v4 |
| 12 | g.51921275A>C | CA2618864735 | ACVRL1 | c.*382A>C (n.*382A>C) | gnomAD v4 |
| 12 | g.51921275A>T | CA2618864734 | ACVRL1 | c.*382A>T (n.*382A>T) | gnomAD v4 |
| 12 | g.51921276C>A | CA2618864736 | ACVRL1 | c.*383C>A (n.*383C>A) | gnomAD v4 |
| 12 | g.51921276C>T | CA2618864737 | ACVRL1 | c.*383C>T (n.*383C>T) | gnomAD v4 |
| 12 | g.51921277T>A | CA2618864738 | ACVRL1 | c.*384T>A (n.*384T>A) | gnomAD v4 |
| 12 | g.51921277T>C | CA236368112 | ACVRL1 | c.*384T>C (n.*384T>C) | dbSNP gnomAD v4 |
| 12 | g.51921277T>G | CA2618864739 | ACVRL1 | c.*384T>G (n.*384T>G) | gnomAD v4 |
| 12 | g.51921277T= | CA2036242409 | ACVRL1 | c.*384T= (n.*384T=) | |
| 12 | g.51921278G>A | CA2036242412 | ACVRL1 | c.*385G>A (n.*385G>A) | dbSNP gnomAD v4 |
| 12 | g.51921278G= | CA2036242411 | ACVRL1 | c.*385G= (n.*385G=) | |
| 12 | g.51921278G>T | CA2618864740 | ACVRL1 | c.*385G>T (n.*385G>T) | gnomAD v4 |
| 12 | g.51921279C= | CA2036242413 | ACVRL1 | c.*386C= (n.*386C=) | |
| 12 | g.51921279C>T | CA947669272 | ACVRL1 | c.*386C>T (n.*386C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921280C>T | CA2618864741 | ACVRL1 | c.*387C>T (n.*387C>T) | gnomAD v4 |
| 12 | g.51921281C>A | CA2618864742 | ACVRL1 | c.*388C>A (n.*388C>A) | gnomAD v4 |
| 12 | g.51921281C>T | CA2618864743 | ACVRL1 | c.*388C>T (n.*388C>T) | dbSNP gnomAD v4 |
| 12 | g.51921281_51921283delinsCCA | CA2036242414 | ACVRL1 | c.*388_*390delinsCCA (n.*388_*390delinsCCA) | |
| 12 | g.51921284_51921286del | CA2795984039 | ACVRL1 | c.*391_*393del (n.*391_*393del) | |
| 12 | g.51921282C>A | CA2618864744 | ACVRL1 | c.*389C>A (n.*389C>A) | gnomAD v4 |
| 12 | g.51921282C>G | CA2618864745 | ACVRL1 | c.*389C>G (n.*389C>G) | gnomAD v4 |
| 12 | g.51921283_51921284del | CA236368113 | ACVRL1 | c.*390_*391del (n.*390_*391del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51921284C>A | CA2618864746 | ACVRL1 | c.*391C>A (n.*391C>A) | gnomAD v4 |
| 12 | g.51921284C= | CA2036242416 | ACVRL1 | c.*391C= (n.*391C=) | |
| 12 | g.51921284C>T | CA236368114 | ACVRL1 | c.*391C>T (n.*391C>T) | dbSNP gnomAD v4 |
| 12 | g.51921285C>A | CA2618864747 | ACVRL1 | c.*392C>A (n.*392C>A) | gnomAD v4 |
| 12 | g.51921287G>A | CA2795984040 | ACVRL1 | c.*394G>A (n.*394G>A) | |
| 12 | g.51921290C>A | CA2618864748 | ACVRL1 | c.*397C>A (n.*397C>A) | gnomAD v4 |
| 12 | g.51921290C>T | CA2618864749 | ACVRL1 | c.*397C>T (n.*397C>T) | gnomAD v4 |
| 12 | g.51921291T>A | CA2618864750 | ACVRL1 | c.*398T>A (n.*398T>A) | gnomAD v4 |
| 12 | g.51921291T>C | CA2618864751 | ACVRL1 | c.*398T>C (n.*398T>C) | gnomAD v4 |
| 12 | g.51921292G>A | CA2618864752 | ACVRL1 | c.*399G>A (n.*399G>A) | gnomAD v4 |
| 12 | g.51921292G>T | CA2618864753 | ACVRL1 | c.*399G>T (n.*399G>T) | gnomAD v4 |