Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38477244T>ACA2665095438ACVR2Bc.53-43T>A (n.53-43T>A)
n.3799T>A
n.57-43T>A
c.116-43T>A (n.116-43T>A)
c.95-43T>A (n.95-43T>A)
c.71-43T>A (n.71-43T>A)
c.50-43T>A (n.50-43T>A)
 gnomAD v4
3g.38477245C>TCA2755894254ACVR2Bc.53-42C>T (n.53-42C>T)
n.3800C>T
n.57-42C>T
c.116-42C>T (n.116-42C>T)
c.95-42C>T (n.95-42C>T)
c.71-42C>T (n.71-42C>T)
c.50-42C>T (n.50-42C>T)
3g.38477246C=CA1358528875ACVR2Bc.53-41C= (n.53-41C=)
n.3801C=
n.57-41C=
c.116-41C= (n.116-41C=)
c.95-41C= (n.95-41C=)
c.71-41C= (n.71-41C=)
c.50-41C= (n.50-41C=)
3g.38477246C>TCA906860086ACVR2Bc.53-41C>T (n.53-41C>T)
n.3801C>T
n.57-41C>T
c.116-41C>T (n.116-41C>T)
c.95-41C>T (n.95-41C>T)
c.71-41C>T (n.71-41C>T)
c.50-41C>T (n.50-41C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38477247C>ACA542615395ACVR2Bc.53-40C>A (n.53-40C>A)
n.3802C>A
n.57-40C>A
c.116-40C>A (n.116-40C>A)
c.95-40C>A (n.95-40C>A)
c.71-40C>A (n.71-40C>A)
c.50-40C>A (n.50-40C>A)
 dbSNP gnomAD v2
3g.38477247C=CA1358528876ACVR2Bc.53-40C= (n.53-40C=)
n.3802C=
n.57-40C=
c.116-40C= (n.116-40C=)
c.95-40C= (n.95-40C=)
c.71-40C= (n.71-40C=)
c.50-40C= (n.50-40C=)
3g.38477247_38477248delinsCACA1358528877ACVR2Bc.53-40_53-39delinsCA (n.53-40_53-39delinsCA)
n.3802_3803delinsCA
n.57-40_57-39delinsCA
c.116-40_116-39delinsCA (n.116-40_116-39delinsCA)
c.95-40_95-39delinsCA (n.95-40_95-39delinsCA)
c.71-40_71-39delinsCA (n.71-40_71-39delinsCA)
c.50-40_50-39delinsCA (n.50-40_50-39delinsCA)
3g.38477248delCA2318691ACVR2Bc.53-39del (n.53-39del)
n.3803del
n.57-39del
c.116-39del (n.116-39del)
c.95-39del (n.95-39del)
c.71-39del (n.71-39del)
c.50-39del (n.50-39del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477252dupCA2577552233ACVR2Bc.53-35dup (n.53-35dup)
n.3807dup
n.57-35dup
c.116-35dup (n.116-35dup)
c.95-35dup (n.95-35dup)
c.71-35dup (n.71-35dup)
c.50-35dup (n.50-35dup)
3g.38477250G>ACA1358528879ACVR2Bc.53-37G>A (n.53-37G>A)
n.3805G>A
n.57-37G>A
c.116-37G>A (n.116-37G>A)
c.95-37G>A (n.95-37G>A)
c.71-37G>A (n.71-37G>A)
c.50-37G>A (n.50-37G>A)
 dbSNP
3g.38477250G=CA1358528878ACVR2Bc.53-37G= (n.53-37G=)
n.3805G=
n.57-37G=
c.116-37G= (n.116-37G=)
c.95-37G= (n.95-37G=)
c.71-37G= (n.71-37G=)
c.50-37G= (n.50-37G=)
3g.38477250G>TCA1358528880ACVR2Bc.53-37G>T (n.53-37G>T)
n.3805G>T
n.57-37G>T
c.116-37G>T (n.116-37G>T)
c.95-37G>T (n.95-37G>T)
c.71-37G>T (n.71-37G>T)
c.50-37G>T (n.50-37G>T)
 dbSNP
3g.38477251G>ACA2524194953ACVR2Bc.53-36G>A (n.53-36G>A)
n.3806G>A
n.57-36G>A
c.116-36G>A (n.116-36G>A)
c.95-36G>A (n.95-36G>A)
c.71-36G>A (n.71-36G>A)
c.50-36G>A (n.50-36G>A)
3g.38477252G>ACA542615396ACVR2Bc.53-35G>A (n.53-35G>A)
n.3807G>A
n.57-35G>A
c.116-35G>A (n.116-35G>A)
c.95-35G>A (n.95-35G>A)
c.71-35G>A (n.71-35G>A)
c.50-35G>A (n.50-35G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38477252G=CA1358528881ACVR2Bc.53-35G= (n.53-35G=)
n.3807G=
n.57-35G=
c.116-35G= (n.116-35G=)
c.95-35G= (n.95-35G=)
c.71-35G= (n.71-35G=)
c.50-35G= (n.50-35G=)
3g.38477252G>TCA542615397ACVR2Bc.53-35G>T (n.53-35G>T)
n.3807G>T
n.57-35G>T
c.116-35G>T (n.116-35G>T)
c.95-35G>T (n.95-35G>T)
c.71-35G>T (n.71-35G>T)
c.50-35G>T (n.50-35G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38477253C=CA1358528882ACVR2Bc.53-34C= (n.53-34C=)
n.3808C=
n.57-34C=
c.116-34C= (n.116-34C=)
c.95-34C= (n.95-34C=)
c.71-34C= (n.71-34C=)
c.50-34C= (n.50-34C=)
3g.38477253C>TCA72923988ACVR2Bc.53-34C>T (n.53-34C>T)
n.3808C>T
n.57-34C>T
c.116-34C>T (n.116-34C>T)
c.95-34C>T (n.95-34C>T)
c.71-34C>T (n.71-34C>T)
c.50-34C>T (n.50-34C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38477254A=CA1358528883ACVR2Bc.53-33A= (n.53-33A=)
n.3809A=
n.57-33A=
c.116-33A= (n.116-33A=)
c.95-33A= (n.95-33A=)
c.71-33A= (n.71-33A=)
c.50-33A= (n.50-33A=)
3g.38477254A>CCA1358528884ACVR2Bc.53-33A>C (n.53-33A>C)
n.3809A>C
n.57-33A>C
c.116-33A>C (n.116-33A>C)
c.95-33A>C (n.95-33A>C)
c.71-33A>C (n.71-33A>C)
c.50-33A>C (n.50-33A>C)
 dbSNP
3g.38477254A>TCA2665095439ACVR2Bc.53-33A>T (n.53-33A>T)
n.3809A>T
n.57-33A>T
c.116-33A>T (n.116-33A>T)
c.95-33A>T (n.95-33A>T)
c.71-33A>T (n.71-33A>T)
c.50-33A>T (n.50-33A>T)
 gnomAD v4
3g.38477255T>CCA2318692ACVR2Bc.53-32T>C (n.53-32T>C)
n.3810T>C
n.57-32T>C
c.116-32T>C (n.116-32T>C)
c.95-32T>C (n.95-32T>C)
c.71-32T>C (n.71-32T>C)
c.50-32T>C (n.50-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477255T=CA1358528885ACVR2Bc.53-32T= (n.53-32T=)
n.3810T=
n.57-32T=
c.116-32T= (n.116-32T=)
c.95-32T= (n.95-32T=)
c.71-32T= (n.71-32T=)
c.50-32T= (n.50-32T=)
3g.38477257C>TCA2665095440ACVR2Bc.53-30C>T (n.53-30C>T)
n.3812C>T
n.57-30C>T
c.116-30C>T (n.116-30C>T)
c.95-30C>T (n.95-30C>T)
c.71-30C>T (n.71-30C>T)
c.50-30C>T (n.50-30C>T)
 gnomAD v4
3g.38477258T>CCA2665095441ACVR2Bc.53-29T>C (n.53-29T>C)
n.3813T>C
n.57-29T>C
c.116-29T>C (n.116-29T>C)
c.95-29T>C (n.95-29T>C)
c.71-29T>C (n.71-29T>C)
c.50-29T>C (n.50-29T>C)
 gnomAD v4
3g.38477260A=CA1358528886ACVR2Bc.53-27A= (n.53-27A=)
n.3815A=
n.57-27A=
c.116-27A= (n.116-27A=)
c.95-27A= (n.95-27A=)
c.71-27A= (n.71-27A=)
c.50-27A= (n.50-27A=)
3g.38477260A>CCA542615398ACVR2Bc.53-27A>C (n.53-27A>C)
n.3815A>C
n.57-27A>C
c.116-27A>C (n.116-27A>C)
c.95-27A>C (n.95-27A>C)
c.71-27A>C (n.71-27A>C)
c.50-27A>C (n.50-27A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38477260A>TCA1358528887ACVR2Bc.53-27A>T (n.53-27A>T)
n.3815A>T
n.57-27A>T
c.116-27A>T (n.116-27A>T)
c.95-27A>T (n.95-27A>T)
c.71-27A>T (n.71-27A>T)
c.50-27A>T (n.50-27A>T)
 dbSNP
3g.38477261G>ACA2665095442ACVR2Bc.53-26G>A (n.53-26G>A)
n.3816G>A
n.57-26G>A
c.116-26G>A (n.116-26G>A)
c.95-26G>A (n.95-26G>A)
c.71-26G>A (n.71-26G>A)
c.50-26G>A (n.50-26G>A)
 gnomAD v4
3g.38477261G=CA1358528888ACVR2Bc.53-26G= (n.53-26G=)
n.3816G=
n.57-26G=
c.116-26G= (n.116-26G=)
c.95-26G= (n.95-26G=)
c.71-26G= (n.71-26G=)
c.50-26G= (n.50-26G=)
3g.38477261G>TCA1046992142ACVR2Bc.53-26G>T (n.53-26G>T)
n.3816G>T
n.57-26G>T
c.116-26G>T (n.116-26G>T)
c.95-26G>T (n.95-26G>T)
c.71-26G>T (n.71-26G>T)
c.50-26G>T (n.50-26G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38477262T>ACA2577552234ACVR2Bc.53-25T>A (n.53-25T>A)
n.3817T>A
n.57-25T>A
c.116-25T>A (n.116-25T>A)
c.95-25T>A (n.95-25T>A)
c.71-25T>A (n.71-25T>A)
c.50-25T>A (n.50-25T>A)
3g.38477263_38477266dupCA2318693ACVR2Bc.53-24_53-21dup (n.53-24_53-21dup)
n.3818_3821dup
n.57-24_57-21dup
c.116-24_116-21dup (n.116-24_116-21dup)
c.95-24_95-21dup (n.95-24_95-21dup)
c.71-24_71-21dup (n.71-24_71-21dup)
c.50-24_50-21dup (n.50-24_50-21dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477263G>ACA2318694ACVR2Bc.53-24G>A (n.53-24G>A)
n.3818G>A
n.57-24G>A
c.116-24G>A (n.116-24G>A)
c.95-24G>A (n.95-24G>A)
c.71-24G>A (n.71-24G>A)
c.50-24G>A (n.50-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477263G=CA1358528889ACVR2Bc.53-24G= (n.53-24G=)
n.3818G=
n.57-24G=
c.116-24G= (n.116-24G=)
c.95-24G= (n.95-24G=)
c.71-24G= (n.71-24G=)
c.50-24G= (n.50-24G=)
3g.38477266T>GCA906860108ACVR2Bc.53-21T>G (n.53-21T>G)
n.3821T>G
n.57-21T>G
c.116-21T>G (n.116-21T>G)
c.95-21T>G (n.95-21T>G)
c.71-21T>G (n.71-21T>G)
c.50-21T>G (n.50-21T>G)
 dbSNP gnomAD v4
3g.38477266T=CA1358528890ACVR2Bc.53-21T= (n.53-21T=)
n.3821T=
n.57-21T=
c.116-21T= (n.116-21T=)
c.95-21T= (n.95-21T=)
c.71-21T= (n.71-21T=)
c.50-21T= (n.50-21T=)
3g.38477267C=CA1358528891ACVR2Bc.53-20C= (n.53-20C=)
n.3822C=
n.57-20C=
c.116-20C= (n.116-20C=)
c.95-20C= (n.95-20C=)
c.71-20C= (n.71-20C=)
c.50-20C= (n.50-20C=)
3g.38477267C>TCA2318695ACVR2Bc.53-20C>T (n.53-20C>T)
n.3822C>T
n.57-20C>T
c.116-20C>T (n.116-20C>T)
c.95-20C>T (n.95-20C>T)
c.71-20C>T (n.71-20C>T)
c.50-20C>T (n.50-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477269C=CA1358528892ACVR2Bc.53-18C= (n.53-18C=)
n.3824C=
n.57-18C=
c.116-18C= (n.116-18C=)
c.95-18C= (n.95-18C=)
c.71-18C= (n.71-18C=)
c.50-18C= (n.50-18C=)
3g.38477269C>GCA72923995ACVR2Bc.53-18C>G (n.53-18C>G)
n.3824C>G
n.57-18C>G
c.116-18C>G (n.116-18C>G)
c.95-18C>G (n.95-18C>G)
c.71-18C>G (n.71-18C>G)
c.50-18C>G (n.50-18C>G)
 dbSNP gnomAD v4
3g.38477269C>TCA2665095443ACVR2Bc.53-18C>T (n.53-18C>T)
n.3824C>T
n.57-18C>T
c.116-18C>T (n.116-18C>T)
c.95-18C>T (n.95-18C>T)
c.71-18C>T (n.71-18C>T)
c.50-18C>T (n.50-18C>T)
 gnomAD v4
3g.38477272_38477273delCA2665095444ACVR2Bc.53-15_53-14del (n.53-15_53-14del)
n.3827_3828del
n.57-15_57-14del
c.116-15_116-14del (n.116-15_116-14del)
c.95-15_95-14del (n.95-15_95-14del)
c.71-15_71-14del (n.71-15_71-14del)
c.50-15_50-14del (n.50-15_50-14del)
 gnomAD v4
3g.38477273T>CCA1358528894ACVR2Bc.53-14T>C (n.53-14T>C)
n.3828T>C
n.57-14T>C
c.116-14T>C (n.116-14T>C)
c.95-14T>C (n.95-14T>C)
c.71-14T>C (n.71-14T>C)
c.50-14T>C (n.50-14T>C)
 dbSNP gnomAD v4
3g.38477273T=CA1358528893ACVR2Bc.53-14T= (n.53-14T=)
n.3828T=
n.57-14T=
c.116-14T= (n.116-14T=)
c.95-14T= (n.95-14T=)
c.71-14T= (n.71-14T=)
c.50-14T= (n.50-14T=)
3g.38477276C=CA1358528895ACVR2Bc.53-11C= (n.53-11C=)
n.3831C=
n.57-11C=
c.116-11C= (n.116-11C=)
c.95-11C= (n.95-11C=)
c.71-11C= (n.71-11C=)
c.50-11C= (n.50-11C=)
3g.38477276C>GCA2665095445ACVR2Bc.53-11C>G (n.53-11C>G)
n.3831C>G
n.57-11C>G
c.116-11C>G (n.116-11C>G)
c.95-11C>G (n.95-11C>G)
c.71-11C>G (n.71-11C>G)
c.50-11C>G (n.50-11C>G)
 gnomAD v4
3g.38477276C>TCA2318696ACVR2Bc.53-11C>T (n.53-11C>T)
n.3831C>T
n.57-11C>T
c.116-11C>T (n.116-11C>T)
c.95-11C>T (n.95-11C>T)
c.71-11C>T (n.71-11C>T)
c.50-11C>T (n.50-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477277T=CA1358528896ACVR2Bc.53-10T= (n.53-10T=)
n.3832T=
n.57-10T=
c.116-10T= (n.116-10T=)
c.95-10T= (n.95-10T=)
c.71-10T= (n.71-10T=)
c.50-10T= (n.50-10T=)
3g.38477277_38477278delCA2665095446ACVR2Bc.53-10_53-9del (n.53-10_53-9del)
n.3832_3833del
n.57-10_57-9del
c.116-10_116-9del (n.116-10_116-9del)
c.95-10_95-9del (n.95-10_95-9del)
c.71-10_71-9del (n.71-10_71-9del)
c.50-10_50-9del (n.50-10_50-9del)
 gnomAD v4
3g.38477281dupCA2318697ACVR2Bc.53-6dup (n.53-6dup)
n.3836dup
n.57-6dup
c.116-6dup (n.116-6dup)
c.95-6dup (n.95-6dup)
c.71-6dup (n.71-6dup)
c.50-6dup (n.50-6dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477279G>CCA2665095447ACVR2Bc.53-8G>C (n.53-8G>C)
n.3834G>C
n.57-8G>C
c.116-8G>C (n.116-8G>C)
c.95-8G>C (n.95-8G>C)
c.71-8G>C (n.71-8G>C)
c.50-8G>C (n.50-8G>C)
 gnomAD v4
3g.38477280G>ACA2665095448ACVR2Bc.53-7G>A (n.53-7G>A)
n.3835G>A
n.57-7G>A
c.116-7G>A (n.116-7G>A)
c.95-7G>A (n.95-7G>A)
c.71-7G>A (n.71-7G>A)
c.50-7G>A (n.50-7G>A)
 gnomAD v4
3g.38477282C=CA1358528897ACVR2Bc.53-5C= (n.53-5C=)
n.3837C=
n.57-5C=
c.116-5C= (n.116-5C=)
c.95-5C= (n.95-5C=)
c.71-5C= (n.71-5C=)
c.50-5C= (n.50-5C=)
3g.38477282C>TCA2318698ACVR2Bc.53-5C>T (n.53-5C>T)
n.3837C>T
n.57-5C>T
c.116-5C>T (n.116-5C>T)
c.95-5C>T (n.95-5C>T)
c.71-5C>T (n.71-5C>T)
c.50-5C>T (n.50-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477283A=CA1358528898ACVR2Bc.53-4A= (n.53-4A=)
n.3838A=
n.57-4A=
c.116-4A= (n.116-4A=)
c.95-4A= (n.95-4A=)
c.71-4A= (n.71-4A=)
c.50-4A= (n.50-4A=)
3g.38477283A>GCA542615399ACVR2Bc.53-4A>G (n.53-4A>G)
n.3838A>G
n.57-4A>G
c.116-4A>G (n.116-4A>G)
c.95-4A>G (n.95-4A>G)
c.71-4A>G (n.71-4A>G)
c.50-4A>G (n.50-4A>G)
 dbSNP gnomAD v2
3g.38477284C=CA1358528899ACVR2Bc.53-3C= (n.53-3C=)
n.3839C=
n.57-3C=
c.116-3C= (n.116-3C=)
c.95-3C= (n.95-3C=)
c.71-3C= (n.71-3C=)
c.50-3C= (n.50-3C=)
3g.38477284C>TCA542615400ACVR2Bc.53-3C>T (n.53-3C>T)
n.3839C>T
n.57-3C>T
c.116-3C>T (n.116-3C>T)
c.95-3C>T (n.95-3C>T)
c.71-3C>T (n.71-3C>T)
c.50-3C>T (n.50-3C>T)
 dbSNP gnomAD v2
3g.38477285A>CCA352125767ACVR2Bc.53-2A>C (n.53-2A>C)
n.3840A>C
n.57-2A>C
c.116-2A>C (n.116-2A>C)
c.95-2A>C (n.95-2A>C)
c.71-2A>C (n.71-2A>C)
c.50-2A>C (n.50-2A>C)
3g.38477285A>GCA352125776ACVR2Bc.53-2A>G (n.53-2A>G)
n.3840A>G
n.57-2A>G
c.116-2A>G (n.116-2A>G)
c.95-2A>G (n.95-2A>G)
c.71-2A>G (n.71-2A>G)
c.50-2A>G (n.50-2A>G)
3g.38477285A>TCA352125790ACVR2Bc.53-2A>T (n.53-2A>T)
n.3840A>T
n.57-2A>T
c.116-2A>T (n.116-2A>T)
c.95-2A>T (n.95-2A>T)
c.71-2A>T (n.71-2A>T)
c.50-2A>T (n.50-2A>T)
3g.38477286G>ACA352125794ACVR2Bc.53-1G>A (n.53-1G>A)
n.3841G>A
n.57-1G>A
c.116-1G>A (n.116-1G>A)
c.95-1G>A (n.95-1G>A)
c.71-1G>A (n.71-1G>A)
c.50-1G>A (n.50-1G>A)
3g.38477286G>CCA352125797ACVR2Bc.53-1G>C (n.53-1G>C)
n.3841G>C
n.57-1G>C
c.116-1G>C (n.116-1G>C)
c.95-1G>C (n.95-1G>C)
c.71-1G>C (n.71-1G>C)
c.50-1G>C (n.50-1G>C)
3g.38477286G>TCA352125796ACVR2Bc.53-1G>T (n.53-1G>T)
n.3841G>T
n.57-1G>T
c.116-1G>T (n.116-1G>T)
c.95-1G>T (n.95-1G>T)
c.71-1G>T (n.71-1G>T)
c.50-1G>T (n.50-1G>T)
3g.38477287G>ACA2318699ACVR2Bc.53G>A (p.Gly18Asp)
n.3842G>A
n.57G>A
c.116G>A (p.Gly39Asp)
c.95G>A (p.Gly32Asp)
c.71G>A (p.Ser24Asn)
c.50G>A (p.Gly17Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477287G>CCA352125801ACVR2Bc.53G>C (p.Gly18Ala)
n.3842G>C
n.57G>C
c.116G>C (p.Gly39Ala)
c.95G>C (p.Gly32Ala)
c.71G>C (p.Ser24Thr)
c.50G>C (p.Gly17Ala)
3g.38477287G=CA1358528900ACVR2Bc.53G= (p.Gly18=)
n.3842G=
n.57G=
c.116G= (p.Gly39=)
c.95G= (p.Gly32=)
c.71G= (p.Ser24=)
c.50G= (p.Gly17=)
3g.38477287G>TCA352125803ACVR2Bc.53G>T (p.Gly18Val)
n.3842G>T
n.57G>T
c.116G>T (p.Gly39Val)
c.95G>T (p.Gly32Val)
c.71G>T (p.Ser24Ile)
c.50G>T (p.Gly17Val)
3g.38477288C>ACA433137339ACVR2Bc.54C>A (p.Gly18=)
n.3843C>A
n.58C>A
c.117C>A (p.Gly39=)
c.96C>A (p.Gly32=)
c.72C>A (p.Ser24Arg)
c.51C>A (p.Gly17=)
3g.38477288C>GCA433137340ACVR2Bc.54C>G (p.Gly18=)
n.3843C>G
n.58C>G
c.117C>G (p.Gly39=)
c.96C>G (p.Gly32=)
c.72C>G (p.Ser24Arg)
c.51C>G (p.Gly17=)
3g.38477288C>TCA433137341ACVR2Bc.54C>T (p.Gly18=)
n.3843C>T
n.58C>T
c.117C>T (p.Gly39=)
c.96C>T (p.Gly32=)
c.72C>T (p.Ser24=)
c.51C>T (p.Gly17=)
3g.38477289T>ACA352125805ACVR2Bc.55T>A (p.Ser19Thr)
n.3844T>A
n.59T>A
c.118T>A (p.Ser40Thr)
c.97T>A (p.Ser33Thr)
c.73T>A (p.Ser25Thr)
c.52T>A (p.Ser18Thr)
3g.38477289T>CCA352125807ACVR2Bc.55T>C (p.Ser19Pro)
n.3844T>C
n.59T>C
c.118T>C (p.Ser40Pro)
c.97T>C (p.Ser33Pro)
c.73T>C (p.Ser25Pro)
c.52T>C (p.Ser18Pro)
3g.38477289T>GCA352125808ACVR2Bc.55T>G (p.Ser19Ala)
n.3844T>G
n.59T>G
c.118T>G (p.Ser40Ala)
c.97T>G (p.Ser33Ala)
c.73T>G (p.Ser25Ala)
c.52T>G (p.Ser18Ala)
3g.38477290C>ACA352125809ACVR2Bc.56C>A (p.Ser19Tyr)
n.3845C>A
n.60C>A
c.119C>A (p.Ser40Tyr)
c.98C>A (p.Ser33Tyr)
c.74C>A (p.Ser25Tyr)
c.53C>A (p.Ser18Tyr)
3g.38477290C>GCA352125810ACVR2Bc.56C>G (p.Ser19Cys)
n.3845C>G
n.60C>G
c.119C>G (p.Ser40Cys)
c.98C>G (p.Ser33Cys)
c.74C>G (p.Ser25Cys)
c.53C>G (p.Ser18Cys)
3g.38477290C>TCA352125811ACVR2Bc.56C>T (p.Ser19Phe)
n.3845C>T
n.60C>T
c.119C>T (p.Ser40Phe)
c.98C>T (p.Ser33Phe)
c.74C>T (p.Ser25Phe)
c.53C>T (p.Ser18Phe)
 gnomAD v4
3g.38477291T>ACA433137342ACVR2Bc.57T>A (p.Ser19=)
n.3846T>A
n.61T>A
c.120T>A (p.Ser40=)
c.99T>A (p.Ser33=)
c.75T>A (p.Ser25=)
c.54T>A (p.Ser18=)
3g.38477291T>CCA433137343ACVR2Bc.57T>C (p.Ser19=)
n.3846T>C
n.61T>C
c.120T>C (p.Ser40=)
c.99T>C (p.Ser33=)
c.75T>C (p.Ser25=)
c.54T>C (p.Ser18=)
3g.38477291T>GCA433137344ACVR2Bc.57T>G (p.Ser19=)
n.3846T>G
n.61T>G
c.120T>G (p.Ser40=)
c.99T>G (p.Ser33=)
c.75T>G (p.Ser25=)
c.54T>G (p.Ser18=)
3g.38477292G>ACA352125814ACVR2Bc.58G>A (p.Gly20Arg)
n.3847G>A
n.62G>A
c.121G>A (p.Gly41Arg)
c.100G>A (p.Gly34Arg)
c.76G>A (p.Gly26Arg)
c.55G>A (p.Gly19Arg)
3g.38477292G>CCA352125816ACVR2Bc.58G>C (p.Gly20Arg)
n.3847G>C
n.62G>C
c.121G>C (p.Gly41Arg)
c.100G>C (p.Gly34Arg)
c.76G>C (p.Gly26Arg)
c.55G>C (p.Gly19Arg)
3g.38477292G>TCA352125817ACVR2Bc.58G>T (p.Gly20Trp)
n.3847G>T
n.62G>T
c.121G>T (p.Gly41Trp)
c.100G>T (p.Gly34Trp)
c.76G>T (p.Gly26Trp)
c.55G>T (p.Gly19Trp)
 gnomAD v4 COSMIC COSMIC
3g.38477293G>ACA352125827ACVR2Bc.59G>A (p.Gly20Glu)
n.3848G>A
n.63G>A
c.122G>A (p.Gly41Glu)
c.101G>A (p.Gly34Glu)
c.77G>A (p.Gly26Glu)
c.56G>A (p.Gly19Glu)
3g.38477293G>CCA352125821ACVR2Bc.59G>C (p.Gly20Ala)
n.3848G>C
n.63G>C
c.122G>C (p.Gly41Ala)
c.101G>C (p.Gly34Ala)
c.77G>C (p.Gly26Ala)
c.56G>C (p.Gly19Ala)
3g.38477293G>TCA352125823ACVR2Bc.59G>T (p.Gly20Val)
n.3848G>T
n.63G>T
c.122G>T (p.Gly41Val)
c.101G>T (p.Gly34Val)
c.77G>T (p.Gly26Val)
c.56G>T (p.Gly19Val)
3g.38477294G>ACA433137345ACVR2Bc.60G>A (p.Gly20=)
n.3849G>A
n.64G>A
c.123G>A (p.Gly41=)
c.102G>A (p.Gly34=)
c.78G>A (p.Gly26=)
c.57G>A (p.Gly19=)
3g.38477294G>CCA433137346ACVR2Bc.60G>C (p.Gly20=)
n.3849G>C
n.64G>C
c.123G>C (p.Gly41=)
c.102G>C (p.Gly34=)
c.78G>C (p.Gly26=)
c.57G>C (p.Gly19=)
3g.38477294G=CA1358528901ACVR2Bc.60G= (p.Gly20=)
n.3849G=
n.64G=
c.123G= (p.Gly41=)
c.102G= (p.Gly34=)
c.78G= (p.Gly26=)
c.57G= (p.Gly19=)
3g.38477294G>TCA433137347ACVR2Bc.60G>T (p.Gly20=)
n.3849G>T
n.64G>T
c.123G>T (p.Gly41=)
c.102G>T (p.Gly34=)
c.78G>T (p.Gly26=)
c.57G>T (p.Gly19=)
 dbSNP gnomAD v3 gnomAD v4
3g.38477295C>ACA352125828ACVR2Bc.61C>A (p.Arg21Ser)
n.3850C>A
n.65C>A
c.124C>A (p.Arg42Ser)
c.103C>A (p.Arg35Ser)
c.79C>A (p.Arg27Ser)
c.58C>A (p.Arg20Ser)
3g.38477295C=CA1358528902ACVR2Bc.61C= (p.Arg21=)
n.3850C=
n.65C=
c.124C= (p.Arg42=)
c.103C= (p.Arg35=)
c.79C= (p.Arg27=)
c.58C= (p.Arg20=)
3g.38477295C>GCA352125829ACVR2Bc.61C>G (p.Arg21Gly)
n.3850C>G
n.65C>G
c.124C>G (p.Arg42Gly)
c.103C>G (p.Arg35Gly)
c.79C>G (p.Arg27Gly)
c.58C>G (p.Arg20Gly)
3g.38477295C>TCA352125830ACVR2Bc.61C>T (p.Arg21Cys)
n.3850C>T
n.65C>T
c.124C>T (p.Arg42Cys)
c.103C>T (p.Arg35Cys)
c.79C>T (p.Arg27Cys)
c.58C>T (p.Arg20Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38477296G>ACA2318700ACVR2Bc.62G>A (p.Arg21His)
n.3851G>A
n.66G>A
c.125G>A (p.Arg42His)
c.104G>A (p.Arg35His)
c.80G>A (p.Arg27His)
c.59G>A (p.Arg20His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.38477296G>CCA352125832ACVR2Bc.62G>C (p.Arg21Pro)
n.3851G>C
n.66G>C
c.125G>C (p.Arg42Pro)
c.104G>C (p.Arg35Pro)
c.80G>C (p.Arg27Pro)
c.59G>C (p.Arg20Pro)
3g.38477296G=CA1358528903ACVR2Bc.62G= (p.Arg21=)
n.3851G=
n.66G=
c.125G= (p.Arg42=)
c.104G= (p.Arg35=)
c.80G= (p.Arg27=)
c.59G= (p.Arg20=)
3g.38477296G>TCA2318701ACVR2Bc.62G>T (p.Arg21Leu)
n.3851G>T
n.66G>T
c.125G>T (p.Arg42Leu)
c.104G>T (p.Arg35Leu)
c.80G>T (p.Arg27Leu)
c.59G>T (p.Arg20Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477297T>ACA433137348ACVR2Bc.63T>A (p.Arg21=)
n.3852T>A
n.67T>A
c.126T>A (p.Arg42=)
c.105T>A (p.Arg35=)
c.81T>A (p.Arg27=)
c.60T>A (p.Arg20=)
3g.38477297T>CCA433137349ACVR2Bc.63T>C (p.Arg21=)
n.3852T>C
n.67T>C
c.126T>C (p.Arg42=)
c.105T>C (p.Arg35=)
c.81T>C (p.Arg27=)
c.60T>C (p.Arg20=)
3g.38477297T>GCA433137350ACVR2Bc.63T>G (p.Arg21=)
n.3852T>G
n.67T>G
c.126T>G (p.Arg42=)
c.105T>G (p.Arg35=)
c.81T>G (p.Arg27=)
c.60T>G (p.Arg20=)
3g.38477298G>ACA352125852ACVR2Bc.64G>A (p.Gly22Arg)
n.3853G>A
n.68G>A
c.127G>A (p.Gly43Arg)
c.106G>A (p.Gly36Arg)
c.82G>A (p.Gly28Arg)
c.61G>A (p.Gly21Arg)
3g.38477298G>CCA352125843ACVR2Bc.64G>C (p.Gly22Arg)
n.3853G>C
n.68G>C
c.127G>C (p.Gly43Arg)
c.106G>C (p.Gly36Arg)
c.82G>C (p.Gly28Arg)
c.61G>C (p.Gly21Arg)
3g.38477298G>TCA352125839ACVR2Bc.64G>T (p.Gly22Trp)
n.3853G>T
n.68G>T
c.127G>T (p.Gly43Trp)
c.106G>T (p.Gly36Trp)
c.82G>T (p.Gly28Trp)
c.61G>T (p.Gly21Trp)
3g.38477299G>ACA352125868ACVR2Bc.65G>A (p.Gly22Glu)
n.3854G>A
n.69G>A
c.128G>A (p.Gly43Glu)
c.107G>A (p.Gly36Glu)
c.83G>A (p.Gly28Glu)
c.62G>A (p.Gly21Glu)
 gnomAD v4
3g.38477299G>CCA352125872ACVR2Bc.65G>C (p.Gly22Ala)
n.3854G>C
n.69G>C
c.128G>C (p.Gly43Ala)
c.107G>C (p.Gly36Ala)
c.83G>C (p.Gly28Ala)
c.62G>C (p.Gly21Ala)
3g.38477299G>TCA352125873ACVR2Bc.65G>T (p.Gly22Val)
n.3854G>T
n.69G>T
c.128G>T (p.Gly43Val)
c.107G>T (p.Gly36Val)
c.83G>T (p.Gly28Val)
c.62G>T (p.Gly21Val)
3g.38477300G>ACA433137351ACVR2Bc.66G>A (p.Gly22=)
n.3855G>A
n.70G>A
c.129G>A (p.Gly43=)
c.108G>A (p.Gly36=)
c.84G>A (p.Gly28=)
c.63G>A (p.Gly21=)
 gnomAD v4
3g.38477300G>CCA433137352ACVR2Bc.66G>C (p.Gly22=)
n.3855G>C
n.70G>C
c.129G>C (p.Gly43=)
c.108G>C (p.Gly36=)
c.84G>C (p.Gly28=)
c.63G>C (p.Gly21=)
3g.38477300G>TCA433137353ACVR2Bc.66G>T (p.Gly22=)
n.3855G>T
n.70G>T
c.129G>T (p.Gly43=)
c.108G>T (p.Gly36=)
c.84G>T (p.Gly28=)
c.63G>T (p.Gly21=)
3g.38477301G>ACA352125877ACVR2Bc.67G>A (p.Glu23Lys)
n.3856G>A
n.71G>A
c.130G>A (p.Glu44Lys)
c.109G>A (p.Glu37Lys)
c.85G>A (p.Glu29Lys)
c.64G>A (p.Glu22Lys)
3g.38477301G>CCA352125878ACVR2Bc.67G>C (p.Glu23Gln)
n.3856G>C
n.71G>C
c.130G>C (p.Glu44Gln)
c.109G>C (p.Glu37Gln)
c.85G>C (p.Glu29Gln)
c.64G>C (p.Glu22Gln)
3g.38477301G>TCA352125882ACVR2Bc.67G>T (p.Glu23Ter)
n.3856G>T
n.71G>T
c.130G>T (p.Glu44Ter)
c.109G>T (p.Glu37Ter)
c.85G>T (p.Glu29Ter)
c.64G>T (p.Glu22Ter)
3g.38477302A>CCA352125893ACVR2Bc.68A>C (p.Glu23Ala)
n.3857A>C
n.72A>C
c.131A>C (p.Glu44Ala)
c.110A>C (p.Glu37Ala)
c.86A>C (p.Glu29Ala)
c.65A>C (p.Glu22Ala)
3g.38477302A>GCA352125897ACVR2Bc.68A>G (p.Glu23Gly)
n.3857A>G
n.72A>G
c.131A>G (p.Glu44Gly)
c.110A>G (p.Glu37Gly)
c.86A>G (p.Glu29Gly)
c.65A>G (p.Glu22Gly)
3g.38477302A>TCA352125896ACVR2Bc.68A>T (p.Glu23Val)
n.3857A>T
n.72A>T
c.131A>T (p.Glu44Val)
c.110A>T (p.Glu37Val)
c.86A>T (p.Glu29Val)
c.65A>T (p.Glu22Val)
3g.38477302_38477303insCCA645534970ACVR2Bc.68_69insC (p.Glu23AspfsTer3)
n.3857_3858insC
n.72_73insC
c.131_132insC (p.Glu44AspfsTer3)
c.110_111insC (p.Glu37AspfsTer3)
c.86_87insC (p.Glu29AspfsTer3)
c.65_66insC (p.Glu22AspfsTer3)
 COSMIC
3g.38477303G>ACA433137354ACVR2Bc.69G>A (p.Glu23=)
n.3858G>A
n.73G>A
c.132G>A (p.Glu44=)
c.111G>A (p.Glu37=)
c.87G>A (p.Glu29=)
c.66G>A (p.Glu22=)
 gnomAD v4
3g.38477303G>CCA352125899ACVR2Bc.69G>C (p.Glu23Asp)
n.3858G>C
n.73G>C
c.132G>C (p.Glu44Asp)
c.111G>C (p.Glu37Asp)
c.87G>C (p.Glu29Asp)
c.66G>C (p.Glu22Asp)
3g.38477303G>TCA352125901ACVR2Bc.69G>T (p.Glu23Asp)
n.3858G>T
n.73G>T
c.132G>T (p.Glu44Asp)
c.111G>T (p.Glu37Asp)
c.87G>T (p.Glu29Asp)
c.66G>T (p.Glu22Asp)
3g.38477303_38477304insCCA433137355ACVR2Bc.69_70insC (p.Ala24ArgfsTer2)
n.3858_3859insC
n.73_74insC
c.132_133insC (p.Ala45ArgfsTer2)
c.111_112insC (p.Ala38ArgfsTer2)
c.87_88insC (p.Ala30ArgfsTer2)
c.66_67insC (p.Ala23ArgfsTer2)
3g.38477304G>ACA352125903ACVR2Bc.70G>A (p.Ala24Thr)
n.3859G>A
n.74G>A
c.133G>A (p.Ala45Thr)
c.112G>A (p.Ala38Thr)
c.88G>A (p.Ala30Thr)
c.67G>A (p.Ala23Thr)
 gnomAD v4
3g.38477304G>CCA352125905ACVR2Bc.70G>C (p.Ala24Pro)
n.3859G>C
n.74G>C
c.133G>C (p.Ala45Pro)
c.112G>C (p.Ala38Pro)
c.88G>C (p.Ala30Pro)
c.67G>C (p.Ala23Pro)
3g.38477304G>TCA352125907ACVR2Bc.70G>T (p.Ala24Ser)
n.3859G>T
n.74G>T
c.133G>T (p.Ala45Ser)
c.112G>T (p.Ala38Ser)
c.88G>T (p.Ala30Ser)
c.67G>T (p.Ala23Ser)
3g.38477305C>ACA352125909ACVR2Bc.71C>A (p.Ala24Asp)
n.3860C>A
n.75C>A
c.134C>A (p.Ala45Asp)
c.113C>A (p.Ala38Asp)
c.89C>A (p.Ala30Asp)
c.68C>A (p.Ala23Asp)
3g.38477305C>GCA352125911ACVR2Bc.71C>G (p.Ala24Gly)
n.3860C>G
n.75C>G
c.134C>G (p.Ala45Gly)
c.113C>G (p.Ala38Gly)
c.89C>G (p.Ala30Gly)
c.68C>G (p.Ala23Gly)
3g.38477305C>TCA352125913ACVR2Bc.71C>T (p.Ala24Val)
n.3860C>T
n.75C>T
c.134C>T (p.Ala45Val)
c.113C>T (p.Ala38Val)
c.89C>T (p.Ala30Val)
c.68C>T (p.Ala23Val)
3g.38477306T>ACA433137356ACVR2Bc.72T>A (p.Ala24=)
n.3861T>A
n.76T>A
c.135T>A (p.Ala45=)
c.114T>A (p.Ala38=)
c.90T>A (p.Ala30=)
c.69T>A (p.Ala23=)
3g.38477306T>CCA433137357ACVR2Bc.72T>C (p.Ala24=)
n.3861T>C
n.76T>C
c.135T>C (p.Ala45=)
c.114T>C (p.Ala38=)
c.90T>C (p.Ala30=)
c.69T>C (p.Ala23=)
3g.38477306T>GCA433137358ACVR2Bc.72T>G (p.Ala24=)
n.3861T>G
n.76T>G
c.135T>G (p.Ala45=)
c.114T>G (p.Ala38=)
c.90T>G (p.Ala30=)
c.69T>G (p.Ala23=)
3g.38477307G>ACA352125914ACVR2Bc.73G>A (p.Glu25Lys)
n.3862G>A
n.77G>A
c.136G>A (p.Glu46Lys)
c.115G>A (p.Glu39Lys)
c.91G>A (p.Glu31Lys)
c.70G>A (p.Glu24Lys)
 gnomAD v4
3g.38477307G>CCA352125917ACVR2Bc.73G>C (p.Glu25Gln)
n.3862G>C
n.77G>C
c.136G>C (p.Glu46Gln)
c.115G>C (p.Glu39Gln)
c.91G>C (p.Glu31Gln)
c.70G>C (p.Glu24Gln)
3g.38477307G>TCA352125918ACVR2Bc.73G>T (p.Glu25Ter)
n.3862G>T
n.77G>T
c.136G>T (p.Glu46Ter)
c.115G>T (p.Glu39Ter)
c.91G>T (p.Glu31Ter)
c.70G>T (p.Glu24Ter)
3g.38477308A>CCA352125920ACVR2Bc.74A>C (p.Glu25Ala)
n.3863A>C
n.78A>C
c.137A>C (p.Glu46Ala)
c.116A>C (p.Glu39Ala)
c.92A>C (p.Glu31Ala)
c.71A>C (p.Glu24Ala)
3g.38477308A>GCA352125922ACVR2Bc.74A>G (p.Glu25Gly)
n.3863A>G
n.78A>G
c.137A>G (p.Glu46Gly)
c.116A>G (p.Glu39Gly)
c.92A>G (p.Glu31Gly)
c.71A>G (p.Glu24Gly)
 gnomAD v4
3g.38477308A>TCA352125921ACVR2Bc.74A>T (p.Glu25Val)
n.3863A>T
n.78A>T
c.137A>T (p.Glu46Val)
c.116A>T (p.Glu39Val)
c.92A>T (p.Glu31Val)
c.71A>T (p.Glu24Val)
3g.38477309G>ACA433137359ACVR2Bc.75G>A (p.Glu25=)
n.3864G>A
n.79G>A
c.138G>A (p.Glu46=)
c.117G>A (p.Glu39=)
c.93G>A (p.Glu31=)
c.72G>A (p.Glu24=)
3g.38477309G>CCA352125923ACVR2Bc.75G>C (p.Glu25Asp)
n.3864G>C
n.79G>C
c.138G>C (p.Glu46Asp)
c.117G>C (p.Glu39Asp)
c.93G>C (p.Glu31Asp)
c.72G>C (p.Glu24Asp)
3g.38477309G>TCA352125924ACVR2Bc.75G>T (p.Glu25Asp)
n.3864G>T
n.79G>T
c.138G>T (p.Glu46Asp)
c.117G>T (p.Glu39Asp)
c.93G>T (p.Glu31Asp)
c.72G>T (p.Glu24Asp)
3g.38477310A>CCA352125925ACVR2Bc.76A>C (p.Thr26Pro)
n.3865A>C
n.80A>C
c.139A>C (p.Thr47Pro)
c.118A>C (p.Thr40Pro)
c.94A>C (p.Thr32Pro)
c.73A>C (p.Thr25Pro)
3g.38477310A>GCA352125927ACVR2Bc.76A>G (p.Thr26Ala)
n.3865A>G
n.80A>G
c.139A>G (p.Thr47Ala)
c.118A>G (p.Thr40Ala)
c.94A>G (p.Thr32Ala)
c.73A>G (p.Thr25Ala)
3g.38477310A>TCA352125930ACVR2Bc.76A>T (p.Thr26Ser)
n.3865A>T
n.80A>T
c.139A>T (p.Thr47Ser)
c.118A>T (p.Thr40Ser)
c.94A>T (p.Thr32Ser)
c.73A>T (p.Thr25Ser)
3g.38477311C>ACA352125931ACVR2Bc.77C>A (p.Thr26Lys)
n.3866C>A
n.81C>A
c.140C>A (p.Thr47Lys)
c.119C>A (p.Thr40Lys)
c.95C>A (p.Thr32Lys)
c.74C>A (p.Thr25Lys)
3g.38477311C=CA1358528904ACVR2Bc.77C= (p.Thr26=)
n.3866C=
n.81C=
c.140C= (p.Thr47=)
c.119C= (p.Thr40=)
c.95C= (p.Thr32=)
c.74C= (p.Thr25=)
3g.38477311C>GCA352125933ACVR2Bc.77C>G (p.Thr26Arg)
n.3866C>G
n.81C>G
c.140C>G (p.Thr47Arg)
c.119C>G (p.Thr40Arg)
c.95C>G (p.Thr32Arg)
c.74C>G (p.Thr25Arg)
 dbSNP
3g.38477311C>TCA352125935ACVR2Bc.77C>T (p.Thr26Ile)
n.3866C>T
n.81C>T
c.140C>T (p.Thr47Ile)
c.119C>T (p.Thr40Ile)
c.95C>T (p.Thr32Ile)
c.74C>T (p.Thr25Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.38477312A=CA1358528905ACVR2Bc.78A= (p.Thr26=)
n.3867A=
n.82A=
c.141A= (p.Thr47=)
c.120A= (p.Thr40=)
c.96A= (p.Thr32=)
c.75A= (p.Thr25=)
3g.38477312A>CCA433137360ACVR2Bc.78A>C (p.Thr26=)
n.3867A>C
n.82A>C
c.141A>C (p.Thr47=)
c.120A>C (p.Thr40=)
c.96A>C (p.Thr32=)
c.75A>C (p.Thr25=)
3g.38477312A>GCA72924000ACVR2Bc.78A>G (p.Thr26=)
n.3867A>G
n.82A>G
c.141A>G (p.Thr47=)
c.120A>G (p.Thr40=)
c.96A>G (p.Thr32=)
c.75A>G (p.Thr25=)
 dbSNP
3g.38477312A>TCA433137361ACVR2Bc.78A>T (p.Thr26=)
n.3867A>T
n.82A>T
c.141A>T (p.Thr47=)
c.120A>T (p.Thr40=)
c.96A>T (p.Thr32=)
c.75A>T (p.Thr25=)
3g.38477313C>ACA433137362ACVR2Bc.79C>A (p.Arg27=)
n.3868C>A
n.83C>A
c.142C>A (p.Arg48=)
c.121C>A (p.Arg41=)
c.97C>A (p.Arg33=)
c.76C>A (p.Arg26=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477313C=CA1358528906ACVR2Bc.79C= (p.Arg27=)
n.3868C=
n.83C=
c.142C= (p.Arg48=)
c.121C= (p.Arg41=)
c.97C= (p.Arg33=)
c.76C= (p.Arg26=)
3g.38477313C>GCA352125941ACVR2Bc.79C>G (p.Arg27Gly)
n.3868C>G
n.83C>G
c.142C>G (p.Arg48Gly)
c.121C>G (p.Arg41Gly)
c.97C>G (p.Arg33Gly)
c.76C>G (p.Arg26Gly)
3g.38477313C>TCA352125938ACVR2Bc.79C>T (p.Arg27Trp)
n.3868C>T
n.83C>T
c.142C>T (p.Arg48Trp)
c.121C>T (p.Arg41Trp)
c.97C>T (p.Arg33Trp)
c.76C>T (p.Arg26Trp)
 gnomAD v4 COSMIC COSMIC
3g.38477314G>ACA72924009ACVR2Bc.80G>A (p.Arg27Gln)
n.3869G>A
n.84G>A
c.143G>A (p.Arg48Gln)
c.122G>A (p.Arg41Gln)
c.98G>A (p.Arg33Gln)
c.77G>A (p.Arg26Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.38477314G>CCA352125943ACVR2Bc.80G>C (p.Arg27Pro)
n.3869G>C
n.84G>C
c.143G>C (p.Arg48Pro)
c.122G>C (p.Arg41Pro)
c.98G>C (p.Arg33Pro)
c.77G>C (p.Arg26Pro)
3g.38477314G=CA1358528907ACVR2Bc.80G= (p.Arg27=)
n.3869G=
n.84G=
c.143G= (p.Arg48=)
c.122G= (p.Arg41=)
c.98G= (p.Arg33=)
c.77G= (p.Arg26=)
3g.38477314G>TCA352125946ACVR2Bc.80G>T (p.Arg27Leu)
n.3869G>T
n.84G>T
c.143G>T (p.Arg48Leu)
c.122G>T (p.Arg41Leu)
c.98G>T (p.Arg33Leu)
c.77G>T (p.Arg26Leu)
 gnomAD v4
3g.38477315G>ACA433137363ACVR2Bc.81G>A (p.Arg27=)
n.3870G>A
n.85G>A
c.144G>A (p.Arg48=)
c.123G>A (p.Arg41=)
c.99G>A (p.Arg33=)
c.78G>A (p.Arg26=)
3g.38477315G>CCA433137365ACVR2Bc.81G>C (p.Arg27=)
n.3870G>C
n.85G>C
c.144G>C (p.Arg48=)
c.123G>C (p.Arg41=)
c.99G>C (p.Arg33=)
c.78G>C (p.Arg26=)
3g.38477315G>TCA433137364ACVR2Bc.81G>T (p.Arg27=)
n.3870G>T
n.85G>T
c.144G>T (p.Arg48=)
c.123G>T (p.Arg41=)
c.99G>T (p.Arg33=)
c.78G>T (p.Arg26=)
3g.38477316G>ACA352125948ACVR2Bc.82G>A (p.Glu28Lys)
n.3871G>A
n.86G>A
c.145G>A (p.Glu49Lys)
c.124G>A (p.Glu42Lys)
c.100G>A (p.Glu34Lys)
c.79G>A (p.Glu27Lys)
3g.38477316G>CCA352125950ACVR2Bc.82G>C (p.Glu28Gln)
n.3871G>C
n.86G>C
c.145G>C (p.Glu49Gln)
c.124G>C (p.Glu42Gln)
c.100G>C (p.Glu34Gln)
c.79G>C (p.Glu27Gln)
3g.38477316G>TCA352125953ACVR2Bc.82G>T (p.Glu28Ter)
n.3871G>T
n.86G>T
c.145G>T (p.Glu49Ter)
c.124G>T (p.Glu42Ter)
c.100G>T (p.Glu34Ter)
c.79G>T (p.Glu27Ter)
3g.38477317A>CCA352125957ACVR2Bc.83A>C (p.Glu28Ala)
n.3872A>C
n.87A>C
c.146A>C (p.Glu49Ala)
c.125A>C (p.Glu42Ala)
c.101A>C (p.Glu34Ala)
c.80A>C (p.Glu27Ala)
3g.38477317A>GCA352125961ACVR2Bc.83A>G (p.Glu28Gly)
n.3872A>G
n.87A>G
c.146A>G (p.Glu49Gly)
c.125A>G (p.Glu42Gly)
c.101A>G (p.Glu34Gly)
c.80A>G (p.Glu27Gly)
3g.38477317A>TCA352125958ACVR2Bc.83A>T (p.Glu28Val)
n.3872A>T
n.87A>T
c.146A>T (p.Glu49Val)
c.125A>T (p.Glu42Val)
c.101A>T (p.Glu34Val)
c.80A>T (p.Glu27Val)
3g.38477318G>ACA433137366ACVR2Bc.84G>A (p.Glu28=)
n.3873G>A
n.88G>A
c.147G>A (p.Glu49=)
c.126G>A (p.Glu42=)
c.102G>A (p.Glu34=)
c.81G>A (p.Glu27=)
 dbSNP gnomAD v2 gnomAD v4
3g.38477318G>CCA352125966ACVR2Bc.84G>C (p.Glu28Asp)
n.3873G>C
n.88G>C
c.147G>C (p.Glu49Asp)
c.126G>C (p.Glu42Asp)
c.102G>C (p.Glu34Asp)
c.81G>C (p.Glu27Asp)
3g.38477318G=CA1358528908ACVR2Bc.84G= (p.Glu28=)
n.3873G=
n.88G=
c.147G= (p.Glu49=)
c.126G= (p.Glu42=)
c.102G= (p.Glu34=)
c.81G= (p.Glu27=)
3g.38477318G>TCA352125968ACVR2Bc.84G>T (p.Glu28Asp)
n.3873G>T
n.88G>T
c.147G>T (p.Glu49Asp)
c.126G>T (p.Glu42Asp)
c.102G>T (p.Glu34Asp)
c.81G>T (p.Glu27Asp)
3g.38477319T>ACA352125969ACVR2Bc.85T>A (p.Cys29Ser)
n.3874T>A
n.89T>A
c.148T>A (p.Cys50Ser)
c.127T>A (p.Cys43Ser)
c.103T>A (p.Cys35Ser)
c.82T>A (p.Cys28Ser)
3g.38477319T>CCA352125970ACVR2Bc.85T>C (p.Cys29Arg)
n.3874T>C
n.89T>C
c.148T>C (p.Cys50Arg)
c.127T>C (p.Cys43Arg)
c.103T>C (p.Cys35Arg)
c.82T>C (p.Cys28Arg)
3g.38477319T>GCA352125971ACVR2Bc.85T>G (p.Cys29Gly)
n.3874T>G
n.89T>G
c.148T>G (p.Cys50Gly)
c.127T>G (p.Cys43Gly)
c.103T>G (p.Cys35Gly)
c.82T>G (p.Cys28Gly)
 dbSNP
3g.38477319T=CA1358528909ACVR2Bc.85T= (p.Cys29=)
n.3874T=
n.89T=
c.148T= (p.Cys50=)
c.127T= (p.Cys43=)
c.103T= (p.Cys35=)
c.82T= (p.Cys28=)
3g.38477320G>ACA352125973ACVR2Bc.86G>A (p.Cys29Tyr)
n.3875G>A
n.90G>A
c.149G>A (p.Cys50Tyr)
c.128G>A (p.Cys43Tyr)
c.104G>A (p.Cys35Tyr)
c.83G>A (p.Cys28Tyr)
3g.38477320G>CCA352125974ACVR2Bc.86G>C (p.Cys29Ser)
n.3875G>C
n.90G>C
c.149G>C (p.Cys50Ser)
c.128G>C (p.Cys43Ser)
c.104G>C (p.Cys35Ser)
c.83G>C (p.Cys28Ser)
3g.38477320G>TCA352125975ACVR2Bc.86G>T (p.Cys29Phe)
n.3875G>T
n.90G>T
c.149G>T (p.Cys50Phe)
c.128G>T (p.Cys43Phe)
c.104G>T (p.Cys35Phe)
c.83G>T (p.Cys28Phe)
3g.38477321C>ACA352125976ACVR2Bc.87C>A (p.Cys29Ter)
n.3876C>A
n.91C>A
c.150C>A (p.Cys50Ter)
c.129C>A (p.Cys43Ter)
c.105C>A (p.Cys35Ter)
c.84C>A (p.Cys28Ter)
3g.38477321C>GCA352125978ACVR2Bc.87C>G (p.Cys29Trp)
n.3876C>G
n.91C>G
c.150C>G (p.Cys50Trp)
c.129C>G (p.Cys43Trp)
c.105C>G (p.Cys35Trp)
c.84C>G (p.Cys28Trp)
3g.38477321C>TCA433137367ACVR2Bc.87C>T (p.Cys29=)
n.3876C>T
n.91C>T
c.150C>T (p.Cys50=)
c.129C>T (p.Cys43=)
c.105C>T (p.Cys35=)
c.84C>T (p.Cys28=)
 gnomAD v4
3g.38477322A=CA1358528910ACVR2Bc.88A= (p.Ile30=)
n.3877A=
n.92A=
c.151A= (p.Ile51=)
c.130A= (p.Ile44=)
c.106A= (p.Ile36=)
c.85A= (p.Ile29=)
3g.38477322A>CCA352125990ACVR2Bc.88A>C (p.Ile30Leu)
n.3877A>C
n.92A>C
c.151A>C (p.Ile51Leu)
c.130A>C (p.Ile44Leu)
c.106A>C (p.Ile36Leu)
c.85A>C (p.Ile29Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.38477322A>GCA352125988ACVR2Bc.88A>G (p.Ile30Val)
n.3877A>G
n.92A>G
c.151A>G (p.Ile51Val)
c.130A>G (p.Ile44Val)
c.106A>G (p.Ile36Val)
c.85A>G (p.Ile29Val)
3g.38477322A>TCA352125985ACVR2Bc.88A>T (p.Ile30Phe)
n.3877A>T
n.92A>T
c.151A>T (p.Ile51Phe)
c.130A>T (p.Ile44Phe)
c.106A>T (p.Ile36Phe)
c.85A>T (p.Ile29Phe)
3g.38477323T>ACA352125992ACVR2Bc.89T>A (p.Ile30Asn)
n.3878T>A
n.93T>A
c.152T>A (p.Ile51Asn)
c.131T>A (p.Ile44Asn)
c.107T>A (p.Ile36Asn)
c.86T>A (p.Ile29Asn)
3g.38477323T>CCA352125994ACVR2Bc.89T>C (p.Ile30Thr)
n.3878T>C
n.93T>C
c.152T>C (p.Ile51Thr)
c.131T>C (p.Ile44Thr)
c.107T>C (p.Ile36Thr)
c.86T>C (p.Ile29Thr)
3g.38477323T>GCA352125995ACVR2Bc.89T>G (p.Ile30Ser)
n.3878T>G
n.93T>G
c.152T>G (p.Ile51Ser)
c.131T>G (p.Ile44Ser)
c.107T>G (p.Ile36Ser)
c.86T>G (p.Ile29Ser)
3g.38477324C>ACA2318702ACVR2Bc.90C>A (p.Ile30=)
n.3879C>A
n.94C>A
c.153C>A (p.Ile51=)
c.132C>A (p.Ile44=)
c.108C>A (p.Ile36=)
c.87C>A (p.Ile29=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477324C=CA1358528911ACVR2Bc.90C= (p.Ile30=)
n.3879C=
n.94C=
c.153C= (p.Ile51=)
c.132C= (p.Ile44=)
c.108C= (p.Ile36=)
c.87C= (p.Ile29=)
3g.38477324C>GCA352126000ACVR2Bc.90C>G (p.Ile30Met)
n.3879C>G
n.94C>G
c.153C>G (p.Ile51Met)
c.132C>G (p.Ile44Met)
c.108C>G (p.Ile36Met)
c.87C>G (p.Ile29Met)
3g.38477324C>TCA433137368ACVR2Bc.90C>T (p.Ile30=)
n.3879C>T
n.94C>T
c.153C>T (p.Ile51=)
c.132C>T (p.Ile44=)
c.108C>T (p.Ile36=)
c.87C>T (p.Ile29=)
3g.38477325T>ACA352126003ACVR2Bc.91T>A (p.Tyr31Asn)
n.3880T>A
n.95T>A
c.154T>A (p.Tyr52Asn)
c.133T>A (p.Tyr45Asn)
c.109T>A (p.Tyr37Asn)
c.88T>A (p.Tyr30Asn)
3g.38477325T>CCA352126006ACVR2Bc.91T>C (p.Tyr31His)
n.3880T>C
n.95T>C
c.154T>C (p.Tyr52His)
c.133T>C (p.Tyr45His)
c.109T>C (p.Tyr37His)
c.88T>C (p.Tyr30His)
 COSMIC COSMIC
3g.38477325T>GCA352126012ACVR2Bc.91T>G (p.Tyr31Asp)
n.3880T>G
n.95T>G
c.154T>G (p.Tyr52Asp)
c.133T>G (p.Tyr45Asp)
c.109T>G (p.Tyr37Asp)
c.88T>G (p.Tyr30Asp)
3g.38477326A>CCA352126021ACVR2Bc.92A>C (p.Tyr31Ser)
n.3881A>C
n.96A>C
c.155A>C (p.Tyr52Ser)
c.134A>C (p.Tyr45Ser)
c.110A>C (p.Tyr37Ser)
c.89A>C (p.Tyr30Ser)
3g.38477326A>GCA352126022ACVR2Bc.92A>G (p.Tyr31Cys)
n.3881A>G
n.96A>G
c.155A>G (p.Tyr52Cys)
c.134A>G (p.Tyr45Cys)
c.110A>G (p.Tyr37Cys)
c.89A>G (p.Tyr30Cys)
3g.38477326A>TCA352126023ACVR2Bc.92A>T (p.Tyr31Phe)
n.3881A>T
n.96A>T
c.155A>T (p.Tyr52Phe)
c.134A>T (p.Tyr45Phe)
c.110A>T (p.Tyr37Phe)
c.89A>T (p.Tyr30Phe)
 COSMIC
3g.38477327C>ACA352126025ACVR2Bc.93C>A (p.Tyr31Ter)
n.3882C>A
n.97C>A
c.156C>A (p.Tyr52Ter)
c.135C>A (p.Tyr45Ter)
c.111C>A (p.Tyr37Ter)
c.90C>A (p.Tyr30Ter)
3g.38477327C>GCA352126027ACVR2Bc.93C>G (p.Tyr31Ter)
n.3882C>G
n.97C>G
c.156C>G (p.Tyr52Ter)
c.135C>G (p.Tyr45Ter)
c.111C>G (p.Tyr37Ter)
c.90C>G (p.Tyr30Ter)
3g.38477327C>TCA433137369ACVR2Bc.93C>T (p.Tyr31=)
n.3882C>T
n.97C>T
c.156C>T (p.Tyr52=)
c.135C>T (p.Tyr45=)
c.111C>T (p.Tyr37=)
c.90C>T (p.Tyr30=)
3g.38477328T>ACA352126035ACVR2Bc.94T>A (p.Tyr32Asn)
n.3883T>A
n.98T>A
c.157T>A (p.Tyr53Asn)
c.136T>A (p.Tyr46Asn)
c.112T>A (p.Tyr38Asn)
c.91T>A (p.Tyr31Asn)
3g.38477328T>CCA352126030ACVR2Bc.94T>C (p.Tyr32His)
n.3883T>C
n.98T>C
c.157T>C (p.Tyr53His)
c.136T>C (p.Tyr46His)
c.112T>C (p.Tyr38His)
c.91T>C (p.Tyr31His)
3g.38477328T>GCA352126032ACVR2Bc.94T>G (p.Tyr32Asp)
n.3883T>G
n.98T>G
c.157T>G (p.Tyr53Asp)
c.136T>G (p.Tyr46Asp)
c.112T>G (p.Tyr38Asp)
c.91T>G (p.Tyr31Asp)
3g.38477329A>CCA352126037ACVR2Bc.95A>C (p.Tyr32Ser)
n.3884A>C
n.99A>C
c.158A>C (p.Tyr53Ser)
c.137A>C (p.Tyr46Ser)
c.113A>C (p.Tyr38Ser)
c.92A>C (p.Tyr31Ser)
3g.38477329A>GCA352126039ACVR2Bc.95A>G (p.Tyr32Cys)
n.3884A>G
n.99A>G
c.158A>G (p.Tyr53Cys)
c.137A>G (p.Tyr46Cys)
c.113A>G (p.Tyr38Cys)
c.92A>G (p.Tyr31Cys)
 gnomAD v4
3g.38477329A>TCA352126042ACVR2Bc.95A>T (p.Tyr32Phe)
n.3884A>T
n.99A>T
c.158A>T (p.Tyr53Phe)
c.137A>T (p.Tyr46Phe)
c.113A>T (p.Tyr38Phe)
c.92A>T (p.Tyr31Phe)
3g.38477330C>ACA352126044ACVR2Bc.96C>A (p.Tyr32Ter)
n.3885C>A
n.100C>A
c.159C>A (p.Tyr53Ter)
c.138C>A (p.Tyr46Ter)
c.114C>A (p.Tyr38Ter)
c.93C>A (p.Tyr31Ter)
3g.38477330C=CA1358528912ACVR2Bc.96C= (p.Tyr32=)
n.3885C=
n.100C=
c.159C= (p.Tyr53=)
c.138C= (p.Tyr46=)
c.114C= (p.Tyr38=)
c.93C= (p.Tyr31=)
3g.38477330C>GCA352126046ACVR2Bc.96C>G (p.Tyr32Ter)
n.3885C>G
n.100C>G
c.159C>G (p.Tyr53Ter)
c.138C>G (p.Tyr46Ter)
c.114C>G (p.Tyr38Ter)
c.93C>G (p.Tyr31Ter)
3g.38477330C>TCA2318703ACVR2Bc.96C>T (p.Tyr32=)
n.3885C>T
n.100C>T
c.159C>T (p.Tyr53=)
c.138C>T (p.Tyr46=)
c.114C>T (p.Tyr38=)
c.93C>T (p.Tyr31=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38477331A>CCA352126051ACVR2Bc.97A>C (p.Asn33His)
n.3886A>C
n.101A>C
c.160A>C (p.Asn54His)
c.139A>C (p.Asn47His)
c.115A>C (p.Asn39His)
c.94A>C (p.Asn32His)
3g.38477331A>GCA352126053ACVR2Bc.97A>G (p.Asn33Asp)
n.3886A>G
n.101A>G
c.160A>G (p.Asn54Asp)
c.139A>G (p.Asn47Asp)
c.115A>G (p.Asn39Asp)
c.94A>G (p.Asn32Asp)
3g.38477331A>TCA352126055ACVR2Bc.97A>T (p.Asn33Tyr)
n.3886A>T
n.101A>T
c.160A>T (p.Asn54Tyr)
c.139A>T (p.Asn47Tyr)
c.115A>T (p.Asn39Tyr)
c.94A>T (p.Asn32Tyr)
3g.38477332A>CCA352126059ACVR2Bc.98A>C (p.Asn33Thr)
n.3887A>C
n.102A>C
c.161A>C (p.Asn54Thr)
c.140A>C (p.Asn47Thr)
c.116A>C (p.Asn39Thr)
c.95A>C (p.Asn32Thr)
3g.38477332A>GCA352126061ACVR2Bc.98A>G (p.Asn33Ser)
n.3887A>G
n.102A>G
c.161A>G (p.Asn54Ser)
c.140A>G (p.Asn47Ser)
c.116A>G (p.Asn39Ser)
c.95A>G (p.Asn32Ser)
 COSMIC
3g.38477332A>TCA352126063ACVR2Bc.98A>T (p.Asn33Ile)
n.3887A>T
n.102A>T
c.161A>T (p.Asn54Ile)
c.140A>T (p.Asn47Ile)
c.116A>T (p.Asn39Ile)
c.95A>T (p.Asn32Ile)
3g.38477333C>ACA352126067ACVR2Bc.99C>A (p.Asn33Lys)
n.3888C>A
n.103C>A
c.162C>A (p.Asn54Lys)
c.141C>A (p.Asn47Lys)
c.117C>A (p.Asn39Lys)
c.96C>A (p.Asn32Lys)
3g.38477333C=CA1358528913ACVR2Bc.99C= (p.Asn33=)
n.3888C=
n.103C=
c.162C= (p.Asn54=)
c.141C= (p.Asn47=)
c.117C= (p.Asn39=)
c.96C= (p.Asn32=)
3g.38477333C>GCA352126069ACVR2Bc.99C>G (p.Asn33Lys)
n.3888C>G
n.103C>G
c.162C>G (p.Asn54Lys)
c.141C>G (p.Asn47Lys)
c.117C>G (p.Asn39Lys)
c.96C>G (p.Asn32Lys)
3g.38477333C>TCA2318704ACVR2Bc.99C>T (p.Asn33=)
n.3888C>T
n.103C>T
c.162C>T (p.Asn54=)
c.141C>T (p.Asn47=)
c.117C>T (p.Asn39=)
c.96C>T (p.Asn32=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38477334G>ACA72924016ACVR2Bc.100G>A (p.Ala34Thr)
n.3889G>A
n.104G>A
c.163G>A (p.Ala55Thr)
c.142G>A (p.Ala48Thr)
c.118G>A (p.Ala40Thr)
c.97G>A (p.Ala33Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.38477334G>CCA352126072ACVR2Bc.100G>C (p.Ala34Pro)
n.3889G>C
n.104G>C
c.163G>C (p.Ala55Pro)
c.142G>C (p.Ala48Pro)
c.118G>C (p.Ala40Pro)
c.97G>C (p.Ala33Pro)
3g.38477334G=CA1358528914ACVR2Bc.100G= (p.Ala34=)
n.3889G=
n.104G=
c.163G= (p.Ala55=)
c.142G= (p.Ala48=)
c.118G= (p.Ala40=)
c.97G= (p.Ala33=)
3g.38477334G>TCA352126075ACVR2Bc.100G>T (p.Ala34Ser)
n.3889G>T
n.104G>T
c.163G>T (p.Ala55Ser)
c.142G>T (p.Ala48Ser)
c.118G>T (p.Ala40Ser)
c.97G>T (p.Ala33Ser)
3g.38477335C>ACA352126076ACVR2Bc.101C>A (p.Ala34Asp)
n.3890C>A
n.105C>A
c.164C>A (p.Ala55Asp)
c.143C>A (p.Ala48Asp)
c.119C>A (p.Ala40Asp)
c.98C>A (p.Ala33Asp)
3g.38477335C>GCA352126081ACVR2Bc.101C>G (p.Ala34Gly)
n.3890C>G
n.105C>G
c.164C>G (p.Ala55Gly)
c.143C>G (p.Ala48Gly)
c.119C>G (p.Ala40Gly)
c.98C>G (p.Ala33Gly)
3g.38477335C>TCA352126078ACVR2Bc.101C>T (p.Ala34Val)
n.3890C>T
n.105C>T
c.164C>T (p.Ala55Val)
c.143C>T (p.Ala48Val)
c.119C>T (p.Ala40Val)
c.98C>T (p.Ala33Val)
3g.38477336C>ACA433137370ACVR2Bc.102C>A (p.Ala34=)
n.3891C>A
n.106C>A
c.165C>A (p.Ala55=)
c.144C>A (p.Ala48=)
c.120C>A (p.Ala40=)
c.99C>A (p.Ala33=)
3g.38477336C>GCA433137371ACVR2Bc.102C>G (p.Ala34=)
n.3891C>G
n.106C>G
c.165C>G (p.Ala55=)
c.144C>G (p.Ala48=)
c.120C>G (p.Ala40=)
c.99C>G (p.Ala33=)
3g.38477336C>TCA433137372ACVR2Bc.102C>T (p.Ala34=)
n.3891C>T
n.106C>T
c.165C>T (p.Ala55=)
c.144C>T (p.Ala48=)
c.120C>T (p.Ala40=)
c.99C>T (p.Ala33=)
 gnomAD v4
3g.38477337A>CCA352126084ACVR2Bc.103A>C (p.Asn35His)
n.3892A>C
n.107A>C
c.166A>C (p.Asn56His)
c.145A>C (p.Asn49His)
c.121A>C (p.Asn41His)
c.100A>C (p.Asn34His)
3g.38477337A>GCA352126088ACVR2Bc.103A>G (p.Asn35Asp)
n.3892A>G
n.107A>G
c.166A>G (p.Asn56Asp)
c.145A>G (p.Asn49Asp)
c.121A>G (p.Asn41Asp)
c.100A>G (p.Asn34Asp)
3g.38477337A>TCA352126086ACVR2Bc.103A>T (p.Asn35Tyr)
n.3892A>T
n.107A>T
c.166A>T (p.Asn56Tyr)
c.145A>T (p.Asn49Tyr)
c.121A>T (p.Asn41Tyr)
c.100A>T (p.Asn34Tyr)
3g.38477338A>CCA352126090ACVR2Bc.104A>C (p.Asn35Thr)
n.3893A>C
n.108A>C
c.167A>C (p.Asn56Thr)
c.146A>C (p.Asn49Thr)
c.122A>C (p.Asn41Thr)
c.101A>C (p.Asn34Thr)
3g.38477338A>GCA352126094ACVR2Bc.104A>G (p.Asn35Ser)
n.3893A>G
n.108A>G
c.167A>G (p.Asn56Ser)
c.146A>G (p.Asn49Ser)
c.122A>G (p.Asn41Ser)
c.101A>G (p.Asn34Ser)
 gnomAD v4
3g.38477338A>TCA352126093ACVR2Bc.104A>T (p.Asn35Ile)
n.3893A>T
n.108A>T
c.167A>T (p.Asn56Ile)
c.146A>T (p.Asn49Ile)
c.122A>T (p.Asn41Ile)
c.101A>T (p.Asn34Ile)
3g.38477339C>ACA352126096ACVR2Bc.105C>A (p.Asn35Lys)
n.3894C>A
n.109C>A
c.168C>A (p.Asn56Lys)
c.147C>A (p.Asn49Lys)
c.123C>A (p.Asn41Lys)
c.102C>A (p.Asn34Lys)
3g.38477339C>GCA352126099ACVR2Bc.105C>G (p.Asn35Lys)
n.3894C>G
n.109C>G
c.168C>G (p.Asn56Lys)
c.147C>G (p.Asn49Lys)
c.123C>G (p.Asn41Lys)
c.102C>G (p.Asn34Lys)
3g.38477339C>TCA433137373ACVR2Bc.105C>T (p.Asn35=)
n.3894C>T
n.109C>T
c.168C>T (p.Asn56=)
c.147C>T (p.Asn49=)
c.123C>T (p.Asn41=)
c.102C>T (p.Asn34=)
 gnomAD v4
3g.38477340T>ACA352126100ACVR2Bc.106T>A (p.Trp36Arg)
n.3895T>A
n.110T>A
c.169T>A (p.Trp57Arg)
c.148T>A (p.Trp50Arg)
c.124T>A (p.Trp42Arg)
c.103T>A (p.Trp35Arg)
3g.38477340T>CCA352126102ACVR2Bc.106T>C (p.Trp36Arg)
n.3895T>C
n.110T>C
c.169T>C (p.Trp57Arg)
c.148T>C (p.Trp50Arg)
c.124T>C (p.Trp42Arg)
c.103T>C (p.Trp35Arg)
3g.38477340T>GCA352126106ACVR2Bc.106T>G (p.Trp36Gly)
n.3895T>G
n.110T>G
c.169T>G (p.Trp57Gly)
c.148T>G (p.Trp50Gly)
c.124T>G (p.Trp42Gly)
c.103T>G (p.Trp35Gly)
3g.38477341G>ACA352126111ACVR2Bc.107G>A (p.Trp36Ter)
n.3896G>A
n.111G>A
c.170G>A (p.Trp57Ter)
c.149G>A (p.Trp50Ter)
c.125G>A (p.Trp42Ter)
c.104G>A (p.Trp35Ter)
3g.38477341G>CCA352126109ACVR2Bc.107G>C (p.Trp36Ser)
n.3896G>C
n.111G>C
c.170G>C (p.Trp57Ser)
c.149G>C (p.Trp50Ser)
c.125G>C (p.Trp42Ser)
c.104G>C (p.Trp35Ser)
3g.38477341G>TCA352126108ACVR2Bc.107G>T (p.Trp36Leu)
n.3896G>T
n.111G>T
c.170G>T (p.Trp57Leu)
c.149G>T (p.Trp50Leu)
c.125G>T (p.Trp42Leu)
c.104G>T (p.Trp35Leu)
3g.38477342G>ACA352126114ACVR2Bc.108G>A (p.Trp36Ter)
n.3897G>A
n.112G>A
c.171G>A (p.Trp57Ter)
c.150G>A (p.Trp50Ter)
c.126G>A (p.Trp42Ter)
c.105G>A (p.Trp35Ter)
3g.38477342G>CCA352126117ACVR2Bc.108G>C (p.Trp36Cys)
n.3897G>C
n.112G>C
c.171G>C (p.Trp57Cys)
c.150G>C (p.Trp50Cys)
c.126G>C (p.Trp42Cys)
c.105G>C (p.Trp35Cys)
3g.38477342G>TCA352126119ACVR2Bc.108G>T (p.Trp36Cys)
n.3897G>T
n.112G>T
c.171G>T (p.Trp57Cys)
c.150G>T (p.Trp50Cys)
c.126G>T (p.Trp42Cys)
c.105G>T (p.Trp35Cys)
3g.38477343G>ACA352126121ACVR2Bc.109G>A (p.Glu37Lys)
n.3898G>A
n.113G>A
c.172G>A (p.Glu58Lys)
c.151G>A (p.Glu51Lys)
c.127G>A (p.Glu43Lys)
c.106G>A (p.Glu36Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.38477343G>CCA352126124ACVR2Bc.109G>C (p.Glu37Gln)
n.3898G>C
n.113G>C
c.172G>C (p.Glu58Gln)
c.151G>C (p.Glu51Gln)
c.127G>C (p.Glu43Gln)
c.106G>C (p.Glu36Gln)
3g.38477343G=CA1358528915ACVR2Bc.109G= (p.Glu37=)
n.3898G=
n.113G=
c.172G= (p.Glu58=)
c.151G= (p.Glu51=)
c.127G= (p.Glu43=)
c.106G= (p.Glu36=)
3g.38477343G>TCA352126127ACVR2Bc.109G>T (p.Glu37Ter)
n.3898G>T
n.113G>T
c.172G>T (p.Glu58Ter)
c.151G>T (p.Glu51Ter)
c.127G>T (p.Glu43Ter)
c.106G>T (p.Glu36Ter)
3g.38477344A>CCA352126130ACVR2Bc.110A>C (p.Glu37Ala)
n.3899A>C
n.114A>C
c.173A>C (p.Glu58Ala)
c.152A>C (p.Glu51Ala)
c.128A>C (p.Glu43Ala)
c.107A>C (p.Glu36Ala)
3g.38477344A>GCA352126134ACVR2Bc.110A>G (p.Glu37Gly)
n.3899A>G
n.114A>G
c.173A>G (p.Glu58Gly)
c.152A>G (p.Glu51Gly)
c.128A>G (p.Glu43Gly)
c.107A>G (p.Glu36Gly)
3g.38477344A>TCA352126131ACVR2Bc.110A>T (p.Glu37Val)
n.3899A>T
n.114A>T
c.173A>T (p.Glu58Val)
c.152A>T (p.Glu51Val)
c.128A>T (p.Glu43Val)
c.107A>T (p.Glu36Val)

Number of alleles fetched