Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.21393435G>A | CA656086109 | CHD8 | c.5482+41C>T (n.5482+41C>T) c.4019+41C>T c.6319+41C>T (n.6319+41C>T) n.5475+41C>T | gnomAD v4 COSMIC |
14 | g.21393435_21393436delinsGA | CA2122505821 | CHD8 | c.5482+40_5482+41delinsTC (n.5482+40_5482+41delinsTC) c.4019+40_4019+41delinsTC c.6319+40_6319+41delinsTC (n.6319+40_6319+41delinsTC) n.5475+40_5475+41delinsTC | |
14 | g.21393436A= | CA2122505824 | CHD8 | c.5482+40T= (n.5482+40T=) c.4019+40T= c.6319+40T= (n.6319+40T=) n.5475+40T= | |
14 | g.21393436A>G | CA2122505825 | CHD8 | c.5482+40T>C (n.5482+40T>C) c.4019+40T>C c.6319+40T>C (n.6319+40T>C) n.5475+40T>C | dbSNP |
14 | g.21393438del | CA7090805 | CHD8 | c.5482+40del (n.5482+40del) c.4019+40del c.6319+40del (n.6319+40del) n.5475+40del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393437A>C | CA2800818513 | CHD8 | c.5482+39T>G (n.5482+39T>G) c.4019+39T>G c.6319+39T>G (n.6319+39T>G) n.5475+39T>G | |
14 | g.21393439T>C | CA612384275 | CHD8 | c.5482+37A>G (n.5482+37A>G) c.4019+37A>G c.6319+37A>G (n.6319+37A>G) n.5475+37A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393439T= | CA2122505827 | CHD8 | c.5482+37A= (n.5482+37A=) c.4019+37A= c.6319+37A= (n.6319+37A=) n.5475+37A= | |
14 | g.21393440A>G | CA2552504161 | CHD8 | c.5482+36T>C (n.5482+36T>C) c.4019+36T>C c.6319+36T>C (n.6319+36T>C) n.5475+36T>C | gnomAD v4 |
14 | g.21393441G>A | CA2575477072 | CHD8 | c.5482+35C>T (n.5482+35C>T) c.4019+35C>T c.6319+35C>T (n.6319+35C>T) n.5475+35C>T | gnomAD v4 |
14 | g.21393441G>C | CA704113299 | CHD8 | c.5482+35C>G (n.5482+35C>G) c.4019+35C>G c.6319+35C>G (n.6319+35C>G) n.5475+35C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393441G= | CA2122505830 | CHD8 | c.5482+35C= (n.5482+35C=) c.4019+35C= c.6319+35C= (n.6319+35C=) n.5475+35C= | |
14 | g.21393441G>T | CA2624078608 | CHD8 | c.5482+35C>A (n.5482+35C>A) c.4019+35C>A c.6319+35C>A (n.6319+35C>A) n.5475+35C>A | gnomAD v4 |
14 | g.21393442G>A | CA2624078610 | CHD8 | c.5482+34C>T (n.5482+34C>T) c.4019+34C>T c.6319+34C>T (n.6319+34C>T) n.5475+34C>T | gnomAD v4 |
14 | g.21393443G>A | CA2575477073 | CHD8 | c.5482+33C>T (n.5482+33C>T) c.4019+33C>T c.6319+33C>T (n.6319+33C>T) n.5475+33C>T | |
14 | g.21393443G>C | CA2624078615 | CHD8 | c.5482+33C>G (n.5482+33C>G) c.4019+33C>G c.6319+33C>G (n.6319+33C>G) n.5475+33C>G | gnomAD v4 |
14 | g.21393443G>T | CA2624078613 | CHD8 | c.5482+33C>A (n.5482+33C>A) c.4019+33C>A c.6319+33C>A (n.6319+33C>A) n.5475+33C>A | gnomAD v4 |
14 | g.21393446G>A | CA612384276 | CHD8 | c.5482+30C>T (n.5482+30C>T) c.4019+30C>T c.6319+30C>T (n.6319+30C>T) n.5475+30C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393446G>C | CA2624078616 | CHD8 | c.5482+30C>G (n.5482+30C>G) c.4019+30C>G c.6319+30C>G (n.6319+30C>G) n.5475+30C>G | gnomAD v4 |
14 | g.21393446G= | CA2122505833 | CHD8 | c.5482+30C= (n.5482+30C=) c.4019+30C= c.6319+30C= (n.6319+30C=) n.5475+30C= | |
14 | g.21393446G>T | CA2624078618 | CHD8 | c.5482+30C>A (n.5482+30C>A) c.4019+30C>A c.6319+30C>A (n.6319+30C>A) n.5475+30C>A | gnomAD v4 |
14 | g.21393450dup | CA2800818514 | CHD8 | c.5482+30dup (n.5482+30dup) c.4019+30dup c.6319+30dup (n.6319+30dup) n.5475+30dup | |
14 | g.21393447G>A | CA2122505838 | CHD8 | c.5482+29C>T (n.5482+29C>T) c.4019+29C>T c.6319+29C>T (n.6319+29C>T) n.5475+29C>T | dbSNP gnomAD v4 |
14 | g.21393447G>C | CA612384277 | CHD8 | c.5482+29C>G (n.5482+29C>G) c.4019+29C>G c.6319+29C>G (n.6319+29C>G) n.5475+29C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393447G= | CA2122505837 | CHD8 | c.5482+29C= (n.5482+29C=) c.4019+29C= c.6319+29C= (n.6319+29C=) n.5475+29C= | |
14 | g.21393448G>A | CA2624078623 | CHD8 | c.5482+28C>T (n.5482+28C>T) c.4019+28C>T c.6319+28C>T (n.6319+28C>T) n.5475+28C>T | gnomAD v4 |
14 | g.21393448G>C | CA2575477074 | CHD8 | c.5482+28C>G (n.5482+28C>G) c.4019+28C>G c.6319+28C>G (n.6319+28C>G) n.5475+28C>G | |
14 | g.21393448G>T | CA2624078625 | CHD8 | c.5482+28C>A (n.5482+28C>A) c.4019+28C>A c.6319+28C>A (n.6319+28C>A) n.5475+28C>A | gnomAD v4 |
14 | g.21393450G>A | CA2624078628 | CHD8 | c.5482+26C>T (n.5482+26C>T) c.4019+26C>T c.6319+26C>T (n.6319+26C>T) n.5475+26C>T | gnomAD v4 |
14 | g.21393450G>T | CA2624078629 | CHD8 | c.5482+26C>A (n.5482+26C>A) c.4019+26C>A c.6319+26C>A (n.6319+26C>A) n.5475+26C>A | gnomAD v4 |
14 | g.21393451C>A | CA612384278 | CHD8 | c.5482+25G>T (n.5482+25G>T) c.4019+25G>T c.6319+25G>T (n.6319+25G>T) n.5475+25G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393451C= | CA2122505839 | CHD8 | c.5482+25G= (n.5482+25G=) c.4019+25G= c.6319+25G= (n.6319+25G=) n.5475+25G= | |
14 | g.21393451C>T | CA2624078631 | CHD8 | c.5482+25G>A (n.5482+25G>A) c.4019+25G>A c.6319+25G>A (n.6319+25G>A) n.5475+25G>A | gnomAD v4 |
14 | g.21393452C>A | CA2624078632 | CHD8 | c.5482+24G>T (n.5482+24G>T) c.4019+24G>T c.6319+24G>T (n.6319+24G>T) n.5475+24G>T | gnomAD v4 |
14 | g.21393452C= | CA2122505841 | CHD8 | c.5482+24G= (n.5482+24G=) c.4019+24G= c.6319+24G= (n.6319+24G=) n.5475+24G= | |
14 | g.21393452C>G | CA257592821 | CHD8 | c.5482+24G>C (n.5482+24G>C) c.4019+24G>C c.6319+24G>C (n.6319+24G>C) n.5475+24G>C | dbSNP gnomAD v4 |
14 | g.21393452C>T | CA960920402 | CHD8 | c.5482+24G>A (n.5482+24G>A) c.4019+24G>A c.6319+24G>A (n.6319+24G>A) n.5475+24G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393453A>T | CA2624078634 | CHD8 | c.5482+23T>A (n.5482+23T>A) c.4019+23T>A c.6319+23T>A (n.6319+23T>A) n.5475+23T>A | gnomAD v4 |
14 | g.21393454A= | CA2122505844 | CHD8 | c.5482+22T= (n.5482+22T=) c.4019+22T= c.6319+22T= (n.6319+22T=) n.5475+22T= | |
14 | g.21393454A>C | CA2624078635 | CHD8 | c.5482+22T>G (n.5482+22T>G) c.4019+22T>G c.6319+22T>G (n.6319+22T>G) n.5475+22T>G | gnomAD v4 |
14 | g.21393454A>G | CA2122505857 | CHD8 | c.5482+22T>C (n.5482+22T>C) c.4019+22T>C c.6319+22T>C (n.6319+22T>C) n.5475+22T>C | dbSNP gnomAD v4 |
14 | g.21393455C>A | CA2624078637 | CHD8 | c.5482+21G>T (n.5482+21G>T) c.4019+21G>T c.6319+21G>T (n.6319+21G>T) n.5475+21G>T | gnomAD v4 |
14 | g.21393455C>T | CA2575477075 | CHD8 | c.5482+21G>A (n.5482+21G>A) c.4019+21G>A c.6319+21G>A (n.6319+21G>A) n.5475+21G>A | |
14 | g.21393455dup | CA257592822 | CHD8 | c.5482+21dup (n.5482+21dup) c.4019+21dup c.6319+21dup (n.6319+21dup) n.5475+21dup | dbSNP |
14 | g.21393456A= | CA2122505865 | CHD8 | c.5482+20T= (n.5482+20T=) c.4019+20T= c.6319+20T= (n.6319+20T=) n.5475+20T= | |
14 | g.21393456A>G | CA704113311 | CHD8 | c.5482+20T>C (n.5482+20T>C) c.4019+20T>C c.6319+20T>C (n.6319+20T>C) n.5475+20T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393457G>A | CA2624078640 | CHD8 | c.5482+19C>T (n.5482+19C>T) c.4019+19C>T c.6319+19C>T (n.6319+19C>T) n.5475+19C>T | gnomAD v4 |
14 | g.21393458C>A | CA2624078642 | CHD8 | c.5482+18G>T (n.5482+18G>T) c.4019+18G>T c.6319+18G>T (n.6319+18G>T) n.5475+18G>T | gnomAD v4 |
14 | g.21393458C>T | CA2624078644 | CHD8 | c.5482+18G>A (n.5482+18G>A) c.4019+18G>A c.6319+18G>A (n.6319+18G>A) n.5475+18G>A | gnomAD v4 |
14 | g.21393459C= | CA2122505868 | CHD8 | c.5482+17G= (n.5482+17G=) c.4019+17G= c.6319+17G= (n.6319+17G=) n.5475+17G= | |
14 | g.21393459C>G | CA257592823 | CHD8 | c.5482+17G>C (n.5482+17G>C) c.4019+17G>C c.6319+17G>C (n.6319+17G>C) n.5475+17G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393460T>A | CA612384279 | CHD8 | c.5482+16A>T (n.5482+16A>T) c.4019+16A>T c.6319+16A>T (n.6319+16A>T) n.5475+16A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393460T>C | CA2624078650 | CHD8 | c.5482+16A>G (n.5482+16A>G) c.4019+16A>G c.6319+16A>G (n.6319+16A>G) n.5475+16A>G | gnomAD v4 |
14 | g.21393460T= | CA2122505872 | CHD8 | c.5482+16A= (n.5482+16A=) c.4019+16A= c.6319+16A= (n.6319+16A=) n.5475+16A= | |
14 | g.21393461G>T | CA2624078651 | CHD8 | c.5482+15C>A (n.5482+15C>A) c.4019+15C>A c.6319+15C>A (n.6319+15C>A) n.5475+15C>A | gnomAD v4 |
14 | g.21393463C>A | CA2624078654 | CHD8 | c.5482+13G>T (n.5482+13G>T) c.4019+13G>T c.6319+13G>T (n.6319+13G>T) n.5475+13G>T | gnomAD v4 |
14 | g.21393465C>A | CA2624078656 | CHD8 | c.5482+11G>T (n.5482+11G>T) c.4019+11G>T c.6319+11G>T (n.6319+11G>T) n.5475+11G>T | gnomAD v4 |
14 | g.21393465C= | CA2122505874 | CHD8 | c.5482+11G= (n.5482+11G=) c.4019+11G= c.6319+11G= (n.6319+11G=) n.5475+11G= | |
14 | g.21393465C>T | CA612384280 | CHD8 | c.5482+11G>A (n.5482+11G>A) c.4019+11G>A c.6319+11G>A (n.6319+11G>A) n.5475+11G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393466A>T | CA2624078657 | CHD8 | c.5482+10T>A (n.5482+10T>A) c.4019+10T>A c.6319+10T>A (n.6319+10T>A) n.5475+10T>A | gnomAD v4 |
14 | g.21393468G>A | CA2122505875 | CHD8 | c.5482+8C>T (n.5482+8C>T) c.4019+8C>T c.6319+8C>T (n.6319+8C>T) n.5475+8C>T | dbSNP |
14 | g.21393468G= | CA2122505876 | CHD8 | c.5482+8C= (n.5482+8C=) c.4019+8C= c.6319+8C= (n.6319+8C=) n.5475+8C= | |
14 | g.21393468G>T | CA2624078659 | CHD8 | c.5482+8C>A (n.5482+8C>A) c.4019+8C>A c.6319+8C>A (n.6319+8C>A) n.5475+8C>A | gnomAD v4 |
14 | g.21393469C= | CA2122505878 | CHD8 | c.5482+7G= (n.5482+7G=) c.4019+7G= c.6319+7G= (n.6319+7G=) n.5475+7G= | |
14 | g.21393469C>T | CA612384281 | CHD8 | c.5482+7G>A (n.5482+7G>A) c.4019+7G>A c.6319+7G>A (n.6319+7G>A) n.5475+7G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393471C>A | CA2624078660 | CHD8 | c.5482+5G>T (n.5482+5G>T) c.4019+5G>T c.6319+5G>T (n.6319+5G>T) n.5475+5G>T | gnomAD v4 |
14 | g.21393472T>C | CA7090806 | CHD8 | c.5482+4A>G (n.5482+4A>G) c.4019+4A>G c.6319+4A>G (n.6319+4A>G) n.5475+4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393472T= | CA2122505880 | CHD8 | c.5482+4A= (n.5482+4A=) c.4019+4A= c.6319+4A= (n.6319+4A=) n.5475+4A= | |
14 | g.21393473C>A | CA2624078668 | CHD8 | c.5482+3G>T (n.5482+3G>T) c.4019+3G>T c.6319+3G>T (n.6319+3G>T) n.5475+3G>T | gnomAD v4 |
14 | g.21393473C= | CA2122505890 | CHD8 | c.5482+3G= (n.5482+3G=) c.4019+3G= c.6319+3G= (n.6319+3G=) n.5475+3G= | |
14 | g.21393473C>T | CA960920409 | CHD8 | c.5482+3G>A (n.5482+3G>A) c.4019+3G>A c.6319+3G>A (n.6319+3G>A) n.5475+3G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393473_21393477delinsCACTT | CA2122505885 | CHD8 | c.5481_5482+3delinsAAGTG c.4018_4019+3delinsAAGTG c.6318_6319+3delinsAAGTG n.5474_5475+3delinsAAGTG | |
14 | g.21393474A>C | CA388879680 | CHD8 | c.5482+2T>G (n.5482+2T>G) c.4019+2T>G c.6319+2T>G (n.6319+2T>G) n.5475+2T>G | |
14 | g.21393474A>G | CA388879681 | CHD8 | c.5482+2T>C (n.5482+2T>C) c.4019+2T>C c.6319+2T>C (n.6319+2T>C) n.5475+2T>C | |
14 | g.21393474A>T | CA388879683 | CHD8 | c.5482+2T>A (n.5482+2T>A) c.4019+2T>A c.6319+2T>A (n.6319+2T>A) n.5475+2T>A | |
14 | g.21393475_21393478del | CA612384282 | CHD8 | c.5481_5482+2del c.4018_4019+2del c.6318_6319+2del n.5474_5475+2del | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393475C>A | CA388879685 | CHD8 | c.5482+1G>T (n.5482+1G>T) c.4019+1G>T c.6319+1G>T (n.6319+1G>T) n.5475+1G>T | gnomAD v4 |
14 | g.21393475C= | CA2122505899 | CHD8 | c.5482+1G= (n.5482+1G=) c.4019+1G= c.6319+1G= (n.6319+1G=) n.5475+1G= | |
14 | g.21393475C>G | CA388879687 | CHD8 | c.5482+1G>C (n.5482+1G>C) c.4019+1G>C c.6319+1G>C (n.6319+1G>C) n.5475+1G>C | |
14 | g.21393475C>T | CA388879690 | CHD8 | c.5482+1G>A (n.5482+1G>A) c.4019+1G>A c.6319+1G>A (n.6319+1G>A) n.5475+1G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393476T>A | CA388879692 | CHD8 | c.5482A>T (p.Thr1828Ser) c.4019A>T c.6319A>T (p.Thr2107Ser) n.5475A>T | |
14 | g.21393476T>C | CA388879694 | CHD8 | c.5482A>G (p.Thr1828Ala) c.4019A>G c.6319A>G (p.Thr2107Ala) n.5475A>G | gnomAD v4 |
14 | g.21393476T>G | CA388879696 | CHD8 | c.5482A>C (p.Thr1828Pro) c.4019A>C c.6319A>C (p.Thr2107Pro) n.5475A>C | |
14 | g.21393477T>A | CA484994681 | CHD8 | c.5481A>T (p.Leu1827=) c.4018A>T c.6318A>T (p.Leu2106=) n.5474A>T | |
14 | g.21393477T>C | CA484994682 | CHD8 | c.5481A>G (p.Leu1827=) c.4018A>G c.6318A>G (p.Leu2106=) n.5474A>G | ClinVar dbSNP gnomAD v4 |
14 | g.21393477T>G | CA484994683 | CHD8 | c.5481A>C (p.Leu1827=) c.4018A>C c.6318A>C (p.Leu2106=) n.5474A>C | gnomAD v4 |
14 | g.21393477T= | CA2122505901 | CHD8 | c.5481A= (p.Leu1827=) c.4018A= c.6318A= (p.Leu2106=) n.5474A= | |
14 | g.21393478A>C | CA388879700 | CHD8 | c.5480T>G (p.Leu1827Arg) c.4017T>G c.6317T>G (p.Leu2106Arg) n.5473T>G | |
14 | g.21393478A>G | CA388879702 | CHD8 | c.5480T>C (p.Leu1827Pro) c.4017T>C c.6317T>C (p.Leu2106Pro) n.5473T>C | |
14 | g.21393478A>T | CA388879704 | CHD8 | c.5480T>A (p.Leu1827Gln) c.4017T>A c.6317T>A (p.Leu2106Gln) n.5473T>A | |
14 | g.21393479G>A | CA484994687 | CHD8 | c.5479C>T (p.Leu1827=) c.4016C>T c.6316C>T (p.Leu2106=) n.5472C>T | |
14 | g.21393479G>C | CA388879706 | CHD8 | c.5479C>G (p.Leu1827Val) c.4016C>G c.6316C>G (p.Leu2106Val) n.5472C>G | |
14 | g.21393479G>T | CA388879708 | CHD8 | c.5479C>A (p.Leu1827Ile) c.4016C>A c.6316C>A (p.Leu2106Ile) n.5472C>A | gnomAD v4 |
14 | g.21393480C>A | CA388879709 | CHD8 | c.5478G>T (p.Lys1826Asn) c.4015G>T c.6315G>T (p.Lys2105Asn) n.5471G>T | gnomAD v4 |
14 | g.21393480C= | CA2122505905 | CHD8 | c.5478G= (p.Lys1826=) c.4015G= c.6315G= (p.Lys2105=) n.5471G= | |
14 | g.21393480C>G | CA388879711 | CHD8 | c.5478G>C (p.Lys1826Asn) c.4015G>C c.6315G>C (p.Lys2105Asn) n.5471G>C | |
14 | g.21393480C>T | CA257592832 | CHD8 | c.5478G>A (p.Lys1826=) c.4015G>A c.6315G>A (p.Lys2105=) n.5471G>A | ClinVar dbSNP |
14 | g.21393481T>A | CA388879715 | CHD8 | c.5477A>T (p.Lys1826Met) c.4014A>T c.6314A>T (p.Lys2105Met) n.5470A>T | |
14 | g.21393481T>C | CA388879717 | CHD8 | c.5477A>G (p.Lys1826Arg) c.4014A>G c.6314A>G (p.Lys2105Arg) n.5470A>G | |
14 | g.21393481T>G | CA388879719 | CHD8 | c.5477A>C (p.Lys1826Thr) c.4014A>C c.6314A>C (p.Lys2105Thr) n.5470A>C | |
14 | g.21393482T>A | CA388879721 | CHD8 | c.5476A>T (p.Lys1826Ter) c.4013A>T c.6313A>T (p.Lys2105Ter) n.5469A>T | dbSNP |
14 | g.21393482T>C | CA388879722 | CHD8 | c.5476A>G (p.Lys1826Glu) c.4013A>G c.6313A>G (p.Lys2105Glu) n.5469A>G | |
14 | g.21393482T>G | CA388879724 | CHD8 | c.5476A>C (p.Lys1826Gln) c.4013A>C c.6313A>C (p.Lys2105Gln) n.5469A>C | |
14 | g.21393482T= | CA2122505910 | CHD8 | c.5476A= (p.Lys1826=) c.4013A= c.6313A= (p.Lys2105=) n.5469A= | |
14 | g.21393483C>A | CA388879726 | CHD8 | c.5475G>T (p.Glu1825Asp) c.4012G>T c.6312G>T (p.Glu2104Asp) n.5468G>T | |
14 | g.21393483C= | CA2122505914 | CHD8 | c.5475G= (p.Glu1825=) c.4012G= c.6312G= (p.Glu2104=) n.5468G= | |
14 | g.21393483C>G | CA388879728 | CHD8 | c.5475G>C (p.Glu1825Asp) c.4012G>C c.6312G>C (p.Glu2104Asp) n.5468G>C | |
14 | g.21393483C>T | CA7090807 | CHD8 | c.5475G>A (p.Glu1825=) c.4012G>A c.6312G>A (p.Glu2104=) n.5468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393484T>A | CA388879733 | CHD8 | c.5474A>T (p.Glu1825Val) c.4011A>T c.6311A>T (p.Glu2104Val) n.5467A>T | |
14 | g.21393484T>C | CA388879734 | CHD8 | c.5474A>G (p.Glu1825Gly) c.4011A>G c.6311A>G (p.Glu2104Gly) n.5467A>G | |
14 | g.21393484T>G | CA388879732 | CHD8 | c.5474A>C (p.Glu1825Ala) c.4011A>C c.6311A>C (p.Glu2104Ala) n.5467A>C | ClinVar dbSNP |
14 | g.21393484_21393488delinsTCTTC | CA2122505920 | CHD8 | c.5470_5474delinsGAAGA (p.Glu1824=) c.4007_4011delinsGAAGA c.6307_6311delinsGAAGA (p.Glu2103=) n.5463_5467delinsGAAGA | |
14 | g.21393485C>A | CA388879739 | CHD8 | c.5473G>T (p.Glu1825Ter) c.4010G>T c.6310G>T (p.Glu2104Ter) n.5466G>T | dbSNP COSMIC COSMIC |
14 | g.21393485C= | CA2122505925 | CHD8 | c.5473G= (p.Glu1825=) c.4010G= c.6310G= (p.Glu2104=) n.5466G= | |
14 | g.21393485C>G | CA388879736 | CHD8 | c.5473G>C (p.Glu1825Gln) c.4010G>C c.6310G>C (p.Glu2104Gln) n.5466G>C | gnomAD v4 |
14 | g.21393485C>T | CA388879737 | CHD8 | c.5473G>A (p.Glu1825Lys) c.4010G>A c.6310G>A (p.Glu2104Lys) n.5466G>A | gnomAD v4 |
14 | g.21393489_21393492del | CA658770505 | CHD8 | c.5470_5473del (p.Glu1824ArgfsTer3) c.4007_4010del c.6307_6310del (p.Glu2103ArgfsTer3) n.5463_5466del | ClinVar dbSNP |
14 | g.21393486T>A | CA388879740 | CHD8 | c.5472A>T (p.Glu1824Asp) c.4009A>T c.6309A>T (p.Glu2103Asp) n.5465A>T | |
14 | g.21393486T>C | CA484994696 | CHD8 | c.5472A>G (p.Glu1824=) c.4009A>G c.6309A>G (p.Glu2103=) n.5465A>G | |
14 | g.21393486T>G | CA388879741 | CHD8 | c.5472A>C (p.Glu1824Asp) c.4009A>C c.6309A>C (p.Glu2103Asp) n.5465A>C | |
14 | g.21393487T>A | CA388879744 | CHD8 | c.5471A>T (p.Glu1824Val) c.4008A>T c.6308A>T (p.Glu2103Val) n.5464A>T | |
14 | g.21393487T>C | CA388879745 | CHD8 | c.5471A>G (p.Glu1824Gly) c.4008A>G c.6308A>G (p.Glu2103Gly) n.5464A>G | dbSNP |
14 | g.21393487T>G | CA388879747 | CHD8 | c.5471A>C (p.Glu1824Ala) c.4008A>C c.6308A>C (p.Glu2103Ala) n.5464A>C | |
14 | g.21393487T= | CA2122505930 | CHD8 | c.5471A= (p.Glu1824=) c.4008A= c.6308A= (p.Glu2103=) n.5464A= | |
14 | g.21393487_21393488del | CA2695219070 | CHD8 | c.5470_5471del (p.Glu1824ArgfsTer5) c.4007_4008del c.6307_6308del (p.Glu2103ArgfsTer5) n.5463_5464del | |
14 | g.21393488C>A | CA388879750 | CHD8 | c.5470G>T (p.Glu1824Ter) c.4007G>T c.6307G>T (p.Glu2103Ter) n.5463G>T | |
14 | g.21393488C>G | CA388879752 | CHD8 | c.5470G>C (p.Glu1824Gln) c.4007G>C c.6307G>C (p.Glu2103Gln) n.5463G>C | |
14 | g.21393488C>T | CA388879753 | CHD8 | c.5470G>A (p.Glu1824Lys) c.4007G>A c.6307G>A (p.Glu2103Lys) n.5463G>A | |
14 | g.21393489C>A | CA388879754 | CHD8 | c.5469G>T (p.Lys1823Asn) c.4006G>T c.6306G>T (p.Lys2102Asn) n.5462G>T | |
14 | g.21393489C>G | CA388879755 | CHD8 | c.5469G>C (p.Lys1823Asn) c.4006G>C c.6306G>C (p.Lys2102Asn) n.5462G>C | |
14 | g.21393489C>T | CA484994700 | CHD8 | c.5469G>A (p.Lys1823=) c.4006G>A c.6306G>A (p.Lys2102=) n.5462G>A | |
14 | g.21393491_21393493del | CA2575477086 | CHD8 | c.5467_5469del (p.Lys1823del) c.4004_4006del c.6304_6306del (p.Lys2102del) n.5460_5462del | |
14 | g.21393490T>A | CA388879757 | CHD8 | c.5468A>T (p.Lys1823Met) c.4005A>T c.6305A>T (p.Lys2102Met) n.5461A>T | |
14 | g.21393490T>C | CA388879758 | CHD8 | c.5468A>G (p.Lys1823Arg) c.4005A>G c.6305A>G (p.Lys2102Arg) n.5461A>G | |
14 | g.21393490T>G | CA388879756 | CHD8 | c.5468A>C (p.Lys1823Thr) c.4005A>C c.6305A>C (p.Lys2102Thr) n.5461A>C | |
14 | g.21393491T>A | CA388879760 | CHD8 | c.5467A>T (p.Lys1823Ter) c.4004A>T c.6304A>T (p.Lys2102Ter) n.5460A>T | |
14 | g.21393491T>C | CA388879762 | CHD8 | c.5467A>G (p.Lys1823Glu) c.4004A>G c.6304A>G (p.Lys2102Glu) n.5460A>G | |
14 | g.21393491T>G | CA388879765 | CHD8 | c.5467A>C (p.Lys1823Gln) c.4004A>C c.6304A>C (p.Lys2102Gln) n.5460A>C | |
14 | g.21393492C>A | CA388879767 | CHD8 | c.5466G>T (p.Glu1822Asp) c.4003G>T c.6303G>T (p.Glu2101Asp) n.5459G>T | gnomAD v4 |
14 | g.21393492C>G | CA388879769 | CHD8 | c.5466G>C (p.Glu1822Asp) c.4003G>C c.6303G>C (p.Glu2101Asp) n.5459G>C | |
14 | g.21393492C>T | CA484994703 | CHD8 | c.5466G>A (p.Glu1822=) c.4003G>A c.6303G>A (p.Glu2101=) n.5459G>A | |
14 | g.21393493T>A | CA388879773 | CHD8 | c.5465A>T (p.Glu1822Val) c.4002A>T c.6302A>T (p.Glu2101Val) n.5458A>T | |
14 | g.21393493T>C | CA388879770 | CHD8 | c.5465A>G (p.Glu1822Gly) c.4002A>G c.6302A>G (p.Glu2101Gly) n.5458A>G | |
14 | g.21393493T>G | CA388879772 | CHD8 | c.5465A>C (p.Glu1822Ala) c.4002A>C c.6302A>C (p.Glu2101Ala) n.5458A>C | |
14 | g.21393494C>A | CA388879774 | CHD8 | c.5464G>T (p.Glu1822Ter) c.4001G>T c.6301G>T (p.Glu2101Ter) n.5457G>T | dbSNP gnomAD v4 |
14 | g.21393494C= | CA2122505934 | CHD8 | c.5464G= (p.Glu1822=) c.4001G= c.6301G= (p.Glu2101=) n.5457G= | |
14 | g.21393494C>G | CA388879775 | CHD8 | c.5464G>C (p.Glu1822Gln) c.4001G>C c.6301G>C (p.Glu2101Gln) n.5457G>C | |
14 | g.21393494C>T | CA388879776 | CHD8 | c.5464G>A (p.Glu1822Lys) c.4001G>A c.6301G>A (p.Glu2101Lys) n.5457G>A | gnomAD v4 |
14 | g.21393495A>C | CA388879777 | CHD8 | c.5463T>G (p.Asp1821Glu) c.4000T>G c.6300T>G (p.Asp2100Glu) n.5456T>G | |
14 | g.21393495A>G | CA484994706 | CHD8 | c.5463T>C (p.Asp1821=) c.4000T>C c.6300T>C (p.Asp2100=) n.5456T>C | |
14 | g.21393495A>T | CA388879778 | CHD8 | c.5463T>A (p.Asp1821Glu) c.4000T>A c.6300T>A (p.Asp2100Glu) n.5456T>A | |
14 | g.21393496T>A | CA388879781 | CHD8 | c.5462A>T (p.Asp1821Val) c.3999A>T c.6299A>T (p.Asp2100Val) n.5455A>T | |
14 | g.21393496T>C | CA388879780 | CHD8 | c.5462A>G (p.Asp1821Gly) c.3999A>G c.6299A>G (p.Asp2100Gly) n.5455A>G | |
14 | g.21393496T>G | CA388879779 | CHD8 | c.5462A>C (p.Asp1821Ala) c.3999A>C c.6299A>C (p.Asp2100Ala) n.5455A>C | |
14 | g.21393497C>A | CA388879782 | CHD8 | c.5461G>T (p.Asp1821Tyr) c.3998G>T c.6298G>T (p.Asp2100Tyr) n.5454G>T | gnomAD v4 |
14 | g.21393497C>G | CA388879783 | CHD8 | c.5461G>C (p.Asp1821His) c.3998G>C c.6298G>C (p.Asp2100His) n.5454G>C | |
14 | g.21393497C>T | CA388879784 | CHD8 | c.5461G>A (p.Asp1821Asn) c.3998G>A c.6298G>A (p.Asp2100Asn) n.5454G>A | |
14 | g.21393498C>A | CA388879785 | CHD8 | c.5460G>T (p.Glu1820Asp) c.3997G>T c.6297G>T (p.Glu2099Asp) n.5453G>T | gnomAD v4 |
14 | g.21393498C= | CA2122505939 | CHD8 | c.5460G= (p.Glu1820=) c.3997G= c.6297G= (p.Glu2099=) n.5453G= | |
14 | g.21393498C>G | CA388879787 | CHD8 | c.5460G>C (p.Glu1820Asp) c.3997G>C c.6297G>C (p.Glu2099Asp) n.5453G>C | |
14 | g.21393498C>T | CA484994709 | CHD8 | c.5460G>A (p.Glu1820=) c.3997G>A c.6297G>A (p.Glu2099=) n.5453G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393499T>A | CA388879789 | CHD8 | c.5459A>T (p.Glu1820Val) c.3996A>T c.6296A>T (p.Glu2099Val) n.5452A>T | |
14 | g.21393499T>C | CA388879793 | CHD8 | c.5459A>G (p.Glu1820Gly) c.3996A>G c.6296A>G (p.Glu2099Gly) n.5452A>G | gnomAD v4 |
14 | g.21393499T>G | CA388879795 | CHD8 | c.5459A>C (p.Glu1820Ala) c.3996A>C c.6296A>C (p.Glu2099Ala) n.5452A>C | |
14 | g.21393500C>A | CA388879797 | CHD8 | c.5458G>T (p.Glu1820Ter) c.3995G>T c.6295G>T (p.Glu2099Ter) n.5451G>T | dbSNP gnomAD v4 |
14 | g.21393500C= | CA2122505947 | CHD8 | c.5458G= (p.Glu1820=) c.3995G= c.6295G= (p.Glu2099=) n.5451G= | |
14 | g.21393500C>G | CA388879799 | CHD8 | c.5458G>C (p.Glu1820Gln) c.3995G>C c.6295G>C (p.Glu2099Gln) n.5451G>C | |
14 | g.21393500C>T | CA388879801 | CHD8 | c.5458G>A (p.Glu1820Lys) c.3995G>A c.6295G>A (p.Glu2099Lys) n.5451G>A | ClinVar dbSNP |
14 | g.21393501A>C | CA388879803 | CHD8 | c.5457T>G (p.Ser1819Arg) c.3994T>G c.6294T>G (p.Ser2098Arg) n.5450T>G | |
14 | g.21393501A>G | CA484994712 | CHD8 | c.5457T>C (p.Ser1819=) c.3994T>C c.6294T>C (p.Ser2098=) n.5450T>C | |
14 | g.21393501A>T | CA388879806 | CHD8 | c.5457T>A (p.Ser1819Arg) c.3994T>A c.6294T>A (p.Ser2098Arg) n.5450T>A | |
14 | g.21393502C>A | CA388879812 | CHD8 | c.5456G>T (p.Ser1819Ile) c.3993G>T c.6293G>T (p.Ser2098Ile) n.5449G>T | |
14 | g.21393502C= | CA2122505964 | CHD8 | c.5456G= (p.Ser1819=) c.3993G= c.6293G= (p.Ser2098=) n.5449G= | |
14 | g.21393502C>G | CA388879808 | CHD8 | c.5456G>C (p.Ser1819Thr) c.3993G>C c.6293G>C (p.Ser2098Thr) n.5449G>C | |
14 | g.21393502C>T | CA388879810 | CHD8 | c.5456G>A (p.Ser1819Asn) c.3993G>A c.6293G>A (p.Ser2098Asn) n.5449G>A | dbSNP gnomAD v4 |
14 | g.21393503T>A | CA388879814 | CHD8 | c.5455A>T (p.Ser1819Cys) c.3992A>T c.6292A>T (p.Ser2098Cys) n.5448A>T | |
14 | g.21393503T>C | CA388879822 | CHD8 | c.5455A>G (p.Ser1819Gly) c.3992A>G c.6292A>G (p.Ser2098Gly) n.5448A>G | |
14 | g.21393503T>G | CA388879824 | CHD8 | c.5455A>C (p.Ser1819Arg) c.3992A>C c.6292A>C (p.Ser2098Arg) n.5448A>C | |
14 | g.21393504C>A | CA388879828 | CHD8 | c.5454G>T (p.Glu1818Asp) c.3991G>T c.6291G>T (p.Glu2097Asp) n.5447G>T | |
14 | g.21393504C>G | CA388879830 | CHD8 | c.5454G>C (p.Glu1818Asp) c.3991G>C c.6291G>C (p.Glu2097Asp) n.5447G>C | |
14 | g.21393504C>T | CA484994717 | CHD8 | c.5454G>A (p.Glu1818=) c.3991G>A c.6291G>A (p.Glu2097=) n.5447G>A | |
14 | g.21393505T>A | CA388879832 | CHD8 | c.5453A>T (p.Glu1818Val) c.3990A>T c.6290A>T (p.Glu2097Val) n.5446A>T | |
14 | g.21393505T>C | CA388879834 | CHD8 | c.5453A>G (p.Glu1818Gly) c.3990A>G c.6290A>G (p.Glu2097Gly) n.5446A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393505T>G | CA388879836 | CHD8 | c.5453A>C (p.Glu1818Ala) c.3990A>C c.6290A>C (p.Glu2097Ala) n.5446A>C | |
14 | g.21393505T= | CA2122505968 | CHD8 | c.5453A= (p.Glu1818=) c.3990A= c.6290A= (p.Glu2097=) n.5446A= | |
14 | g.21393506C>A | CA388879839 | CHD8 | c.5452G>T (p.Glu1818Ter) c.3989G>T c.6289G>T (p.Glu2097Ter) n.5445G>T | gnomAD v4 |
14 | g.21393506C= | CA2122505971 | CHD8 | c.5452G= (p.Glu1818=) c.3989G= c.6289G= (p.Glu2097=) n.5445G= | |
14 | g.21393506C>G | CA7090808 | CHD8 | c.5452G>C (p.Glu1818Gln) c.3989G>C c.6289G>C (p.Glu2097Gln) n.5445G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393506C>T | CA388879842 | CHD8 | c.5452G>A (p.Glu1818Lys) c.3989G>A c.6289G>A (p.Glu2097Lys) n.5445G>A | gnomAD v4 COSMIC |
14 | g.21393507A= | CA2122505974 | CHD8 | c.5451T= (p.Asp1817=) c.3988T= c.6288T= (p.Asp2096=) n.5444T= | |
14 | g.21393507A>C | CA388879845 | CHD8 | c.5451T>G (p.Asp1817Glu) c.3988T>G c.6288T>G (p.Asp2096Glu) n.5444T>G | gnomAD v4 |
14 | g.21393507A>G | CA484994729 | CHD8 | c.5451T>C (p.Asp1817=) c.3988T>C c.6288T>C (p.Asp2096=) n.5444T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393507A>T | CA388879847 | CHD8 | c.5451T>A (p.Asp1817Glu) c.3988T>A c.6288T>A (p.Asp2096Glu) n.5444T>A | gnomAD v4 |
14 | g.21393508T>A | CA388879854 | CHD8 | c.5450A>T (p.Asp1817Val) c.3987A>T c.6287A>T (p.Asp2096Val) n.5443A>T | |
14 | g.21393508T>C | CA388879852 | CHD8 | c.5450A>G (p.Asp1817Gly) c.3987A>G c.6287A>G (p.Asp2096Gly) n.5443A>G | gnomAD v4 |
14 | g.21393508T>G | CA388879849 | CHD8 | c.5450A>C (p.Asp1817Ala) c.3987A>C c.6287A>C (p.Asp2096Ala) n.5443A>C | |
14 | g.21393509C>A | CA388879859 | CHD8 | c.5449G>T (p.Asp1817Tyr) c.3986G>T c.6286G>T (p.Asp2096Tyr) n.5442G>T | |
14 | g.21393509C= | CA2122505975 | CHD8 | c.5449G= (p.Asp1817=) c.3986G= c.6286G= (p.Asp2096=) n.5442G= | |
14 | g.21393509C>G | CA388879857 | CHD8 | c.5449G>C (p.Asp1817His) c.3986G>C c.6286G>C (p.Asp2096His) n.5442G>C | |
14 | g.21393509C>T | CA7090809 | CHD8 | c.5449G>A (p.Asp1817Asn) c.3986G>A c.6286G>A (p.Asp2096Asn) n.5442G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393510A>C | CA484994732 | CHD8 | c.5448T>G (p.Thr1816=) c.3985T>G c.6285T>G (p.Thr2095=) n.5441T>G | gnomAD v4 |
14 | g.21393510A>G | CA484994733 | CHD8 | c.5448T>C (p.Thr1816=) c.3985T>C c.6285T>C (p.Thr2095=) n.5441T>C | gnomAD v4 |
14 | g.21393510A>T | CA484994735 | CHD8 | c.5448T>A (p.Thr1816=) c.3985T>A c.6285T>A (p.Thr2095=) n.5441T>A | |
14 | g.21393511G>A | CA7090810 | CHD8 | c.5447C>T (p.Thr1816Ile) c.3984C>T c.6284C>T (p.Thr2095Ile) n.5440C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393511G>C | CA388879865 | CHD8 | c.5447C>G (p.Thr1816Ser) c.3984C>G c.6284C>G (p.Thr2095Ser) n.5440C>G | |
14 | g.21393511G= | CA2122505978 | CHD8 | c.5447C= (p.Thr1816=) c.3984C= c.6284C= (p.Thr2095=) n.5440C= | |
14 | g.21393511G>T | CA388879863 | CHD8 | c.5447C>A (p.Thr1816Asn) c.3984C>A c.6284C>A (p.Thr2095Asn) n.5440C>A | gnomAD v4 |
14 | g.21393512T>A | CA388879868 | CHD8 | c.5446A>T (p.Thr1816Ser) c.3983A>T c.6283A>T (p.Thr2095Ser) n.5439A>T | |
14 | g.21393512T>C | CA388879870 | CHD8 | c.5446A>G (p.Thr1816Ala) c.3983A>G c.6283A>G (p.Thr2095Ala) n.5439A>G | |
14 | g.21393512T>G | CA388879871 | CHD8 | c.5446A>C (p.Thr1816Pro) c.3983A>C c.6283A>C (p.Thr2095Pro) n.5439A>C | |
14 | g.21393512_21393518delinsTGCTGGA | CA2122505982 | CHD8 | c.5440_5446delinsTCCAGCA (p.Ser1814=) c.3977_3983delinsTCCAGCA c.6277_6283delinsTCCAGCA (p.Ser2093=) n.5433_5439delinsTCCAGCA | |
14 | g.21393513G>A | CA484994744 | CHD8 | c.5445C>T (p.Ser1815=) c.3982C>T c.6282C>T (p.Ser2094=) n.5438C>T | |
14 | g.21393513G>C | CA388879876 | CHD8 | c.5445C>G (p.Ser1815Arg) c.3982C>G c.6282C>G (p.Ser2094Arg) n.5438C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393513G= | CA2122505987 | CHD8 | c.5445C= (p.Ser1815=) c.3982C= c.6282C= (p.Ser2094=) n.5438C= | |
14 | g.21393513G>T | CA388879878 | CHD8 | c.5445C>A (p.Ser1815Arg) c.3982C>A c.6282C>A (p.Ser2094Arg) n.5438C>A | |
14 | g.21393525_21393530dup | CA7090811 | CHD8 | c.5440_5445dup (p.Ser1815_Thr1816insSerSer) c.3977_3982dup c.6277_6282dup (p.Ser2094_Thr2095insSerSer) n.5433_5438dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393525_21393530del | CA704113388 | CHD8 | c.5440_5445del (p.Ser1814_Ser1815del) c.3977_3982del c.6277_6282del (p.Ser2093_Ser2094del) n.5433_5438del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393514C>A | CA388879880 | CHD8 | c.5444G>T (p.Ser1815Ile) c.3981G>T c.6281G>T (p.Ser2094Ile) n.5437G>T | |
14 | g.21393514C= | CA2122505991 | CHD8 | c.5444G= (p.Ser1815=) c.3981G= c.6281G= (p.Ser2094=) n.5437G= | |
14 | g.21393514C>G | CA388879882 | CHD8 | c.5444G>C (p.Ser1815Thr) c.3981G>C c.6281G>C (p.Ser2094Thr) n.5437G>C | |
14 | g.21393514C>T | CA388879884 | CHD8 | c.5444G>A (p.Ser1815Asn) c.3981G>A c.6281G>A (p.Ser2094Asn) n.5437G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393515T>A | CA388879887 | CHD8 | c.5443A>T (p.Ser1815Cys) c.3980A>T c.6280A>T (p.Ser2094Cys) n.5436A>T | |
14 | g.21393515T>C | CA388879888 | CHD8 | c.5443A>G (p.Ser1815Gly) c.3980A>G c.6280A>G (p.Ser2094Gly) n.5436A>G | gnomAD v4 |
14 | g.21393515T>G | CA388879889 | CHD8 | c.5443A>C (p.Ser1815Arg) c.3980A>C c.6280A>C (p.Ser2094Arg) n.5436A>C | |
14 | g.21393516G>A | CA484994752 | CHD8 | c.5442C>T (p.Ser1814=) c.3979C>T c.6279C>T (p.Ser2093=) n.5435C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393516G>C | CA484994754 | CHD8 | c.5442C>G (p.Ser1814=) c.3979C>G c.6279C>G (p.Ser2093=) n.5435C>G | |
14 | g.21393516G= | CA2122505993 | CHD8 | c.5442C= (p.Ser1814=) c.3979C= c.6279C= (p.Ser2093=) n.5435C= | |
14 | g.21393516G>T | CA484994753 | CHD8 | c.5442C>A (p.Ser1814=) c.3979C>A c.6279C>A (p.Ser2093=) n.5435C>A | |
14 | g.21393517G>A | CA388879895 | CHD8 | c.5441C>T (p.Ser1814Phe) c.3978C>T c.6278C>T (p.Ser2093Phe) n.5434C>T | gnomAD v4 |
14 | g.21393517G>C | CA388879891 | CHD8 | c.5441C>G (p.Ser1814Cys) c.3978C>G c.6278C>G (p.Ser2093Cys) n.5434C>G | dbSNP gnomAD v4 |
14 | g.21393517G= | CA2122505996 | CHD8 | c.5441C= (p.Ser1814=) c.3978C= c.6278C= (p.Ser2093=) n.5434C= | |
14 | g.21393517G>T | CA388879893 | CHD8 | c.5441C>A (p.Ser1814Tyr) c.3978C>A c.6278C>A (p.Ser2093Tyr) n.5434C>A | |
14 | g.21393518A= | CA2122505999 | CHD8 | c.5440T= (p.Ser1814=) c.3977T= c.6277T= (p.Ser2093=) n.5433T= | |
14 | g.21393518A>C | CA388879897 | CHD8 | c.5440T>G (p.Ser1814Ala) c.3977T>G c.6277T>G (p.Ser2093Ala) n.5433T>G | |
14 | g.21393518A>G | CA388879899 | CHD8 | c.5440T>C (p.Ser1814Pro) c.3977T>C c.6277T>C (p.Ser2093Pro) n.5433T>C | dbSNP gnomAD v2 |
14 | g.21393518A>T | CA388879901 | CHD8 | c.5440T>A (p.Ser1814Thr) c.3977T>A c.6277T>A (p.Ser2093Thr) n.5433T>A | |
14 | g.21393519G>A | CA484994759 | CHD8 | c.5439C>T (p.Ser1813=) c.3976C>T c.6276C>T (p.Ser2092=) n.5432C>T | |
14 | g.21393519G>C | CA388879903 | CHD8 | c.5439C>G (p.Ser1813Arg) c.3976C>G c.6276C>G (p.Ser2092Arg) n.5432C>G | |
14 | g.21393519G>T | CA388879905 | CHD8 | c.5439C>A (p.Ser1813Arg) c.3976C>A c.6276C>A (p.Ser2092Arg) n.5432C>A | |
14 | g.21393520C>A | CA388879924 | CHD8 | c.5438G>T (p.Ser1813Ile) c.3975G>T c.6275G>T (p.Ser2092Ile) n.5431G>T | |
14 | g.21393520C>G | CA388879925 | CHD8 | c.5438G>C (p.Ser1813Thr) c.3975G>C c.6275G>C (p.Ser2092Thr) n.5431G>C | |
14 | g.21393520C>T | CA388879928 | CHD8 | c.5438G>A (p.Ser1813Asn) c.3975G>A c.6275G>A (p.Ser2092Asn) n.5431G>A | |
14 | g.21393521T>A | CA388879931 | CHD8 | c.5437A>T (p.Ser1813Cys) c.3974A>T c.6274A>T (p.Ser2092Cys) n.5430A>T | |
14 | g.21393521T>C | CA388879933 | CHD8 | c.5437A>G (p.Ser1813Gly) c.3974A>G c.6274A>G (p.Ser2092Gly) n.5430A>G | |
14 | g.21393521T>G | CA388879935 | CHD8 | c.5437A>C (p.Ser1813Arg) c.3974A>C c.6274A>C (p.Ser2092Arg) n.5430A>C | |
14 | g.21393522G>A | CA484994765 | CHD8 | c.5436C>T (p.Ser1812=) c.3973C>T c.6273C>T (p.Ser2091=) n.5429C>T | gnomAD v4 |
14 | g.21393522G>C | CA484994767 | CHD8 | c.5436C>G (p.Ser1812=) c.3973C>G c.6273C>G (p.Ser2091=) n.5429C>G | |
14 | g.21393522G>T | CA484994768 | CHD8 | c.5436C>A (p.Ser1812=) c.3973C>A c.6273C>A (p.Ser2091=) n.5429C>A | gnomAD v4 |
14 | g.21393523G>A | CA388879938 | CHD8 | c.5435C>T (p.Ser1812Phe) c.3972C>T c.6272C>T (p.Ser2091Phe) n.5428C>T | |
14 | g.21393523G>C | CA388879937 | CHD8 | c.5435C>G (p.Ser1812Cys) c.3972C>G c.6272C>G (p.Ser2091Cys) n.5428C>G | |
14 | g.21393523G>T | CA388879936 | CHD8 | c.5435C>A (p.Ser1812Tyr) c.3972C>A c.6272C>A (p.Ser2091Tyr) n.5428C>A | gnomAD v4 |
14 | g.21393524A>C | CA388879940 | CHD8 | c.5434T>G (p.Ser1812Ala) c.3971T>G c.6271T>G (p.Ser2091Ala) n.5427T>G | |
14 | g.21393524A>G | CA388879941 | CHD8 | c.5434T>C (p.Ser1812Pro) c.3971T>C c.6271T>C (p.Ser2091Pro) n.5427T>C | |
14 | g.21393524A>T | CA388879943 | CHD8 | c.5434T>A (p.Ser1812Thr) c.3971T>A c.6271T>A (p.Ser2091Thr) n.5427T>A | |
14 | g.21393525del | CA2695219071 | CHD8 | c.5433del (p.Ser1812ProfsTer16) c.3970del c.6270del (p.Ser2091ProfsTer16) n.5426del | |
14 | g.21393525G>A | CA484994774 | CHD8 | c.5433C>T (p.Ser1811=) c.3970C>T c.6270C>T (p.Ser2090=) n.5426C>T | |
14 | g.21393525G>C | CA388879947 | CHD8 | c.5433C>G (p.Ser1811Arg) c.3970C>G c.6270C>G (p.Ser2090Arg) n.5426C>G | |
14 | g.21393525G>T | CA388879948 | CHD8 | c.5433C>A (p.Ser1811Arg) c.3970C>A c.6270C>A (p.Ser2090Arg) n.5426C>A | gnomAD v4 |
14 | g.21393525_21393526del | CA2624078743 | CHD8 | c.5432_5433del (p.Ser1811IlefsTer6) c.3969_3970del c.6269_6270del (p.Ser2090IlefsTer6) n.5425_5426del | gnomAD v4 |
14 | g.21393526C>A | CA388879949 | CHD8 | c.5432G>T (p.Ser1811Ile) c.3969G>T c.6269G>T (p.Ser2090Ile) n.5425G>T | |
14 | g.21393526C= | CA2122506001 | CHD8 | c.5432G= (p.Ser1811=) c.3969G= c.6269G= (p.Ser2090=) n.5425G= | |
14 | g.21393526C>G | CA257592867 | CHD8 | c.5432G>C (p.Ser1811Thr) c.3969G>C c.6269G>C (p.Ser2090Thr) n.5425G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393526C>T | CA388879950 | CHD8 | c.5432G>A (p.Ser1811Asn) c.3969G>A c.6269G>A (p.Ser2090Asn) n.5425G>A | ClinVar |
14 | g.21393527T>A | CA388879952 | CHD8 | c.5431A>T (p.Ser1811Cys) c.3968A>T c.6268A>T (p.Ser2090Cys) n.5424A>T | |
14 | g.21393527T>C | CA388879954 | CHD8 | c.5431A>G (p.Ser1811Gly) c.3968A>G c.6268A>G (p.Ser2090Gly) n.5424A>G | gnomAD v4 |
14 | g.21393527T>G | CA388879956 | CHD8 | c.5431A>C (p.Ser1811Arg) c.3968A>C c.6268A>C (p.Ser2090Arg) n.5424A>C | |
14 | g.21393527_21393533delinsTGGATGA | CA2122506004 | CHD8 | c.5425_5431delinsTCATCCA (p.Ser1809=) c.3962_3968delinsTCATCCA c.6262_6268delinsTCATCCA (p.Ser2088=) n.5418_5424delinsTCATCCA | |
14 | g.21393528G>A | CA7090813 | CHD8 | c.5430C>T (p.Ser1810=) c.3967C>T c.6267C>T (p.Ser2089=) n.5423C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393528G>C | CA484994780 | CHD8 | c.5430C>G (p.Ser1810=) c.3967C>G c.6267C>G (p.Ser2089=) n.5423C>G | gnomAD v4 |
14 | g.21393528G= | CA2122506006 | CHD8 | c.5430C= (p.Ser1810=) c.3967C= c.6267C= (p.Ser2089=) n.5423C= | |
14 | g.21393528G>T | CA484994779 | CHD8 | c.5430C>A (p.Ser1810=) c.3967C>A c.6267C>A (p.Ser2089=) n.5423C>A | gnomAD v4 |
14 | g.21393528_21393529insAG | CA2624078744 | CHD8 | c.5430_5431insTC (p.Ser1812AlafsTer17) c.3967_3968insTC c.6267_6268insTC (p.Ser2091AlafsTer17) n.5423_5424insTC | gnomAD v4 |
14 | g.21393537_21393542del | CA7090812 | CHD8 | c.5425_5430del (p.Ser1809_Ser1810del) c.3962_3967del c.6262_6267del (p.Ser2088_Ser2089del) n.5418_5423del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393529G>A | CA388879959 | CHD8 | c.5429C>T (p.Ser1810Phe) c.3966C>T c.6266C>T (p.Ser2089Phe) n.5422C>T | |
14 | g.21393529G>C | CA388879957 | CHD8 | c.5429C>G (p.Ser1810Cys) c.3966C>G c.6266C>G (p.Ser2089Cys) n.5422C>G | |
14 | g.21393529G>T | CA388879958 | CHD8 | c.5429C>A (p.Ser1810Tyr) c.3966C>A c.6266C>A (p.Ser2089Tyr) n.5422C>A | |
14 | g.21393530A>C | CA388879960 | CHD8 | c.5428T>G (p.Ser1810Ala) c.3965T>G c.6265T>G (p.Ser2089Ala) n.5421T>G | |
14 | g.21393530A>G | CA388879961 | CHD8 | c.5428T>C (p.Ser1810Pro) c.3965T>C c.6265T>C (p.Ser2089Pro) n.5421T>C | |
14 | g.21393530A>T | CA388879962 | CHD8 | c.5428T>A (p.Ser1810Thr) c.3965T>A c.6265T>A (p.Ser2089Thr) n.5421T>A | |
14 | g.21393531T>A | CA484994782 | CHD8 | c.5427A>T (p.Ser1809=) c.3964A>T c.6264A>T (p.Ser2088=) n.5420A>T | gnomAD v4 |
14 | g.21393531T>C | CA484994783 | CHD8 | c.5427A>G (p.Ser1809=) c.3964A>G c.6264A>G (p.Ser2088=) n.5420A>G | |
14 | g.21393531T>G | CA7090814 | CHD8 | c.5427A>C (p.Ser1809=) c.3964A>C c.6264A>C (p.Ser2088=) n.5420A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393531T= | CA2122506008 | CHD8 | c.5427A= (p.Ser1809=) c.3964A= c.6264A= (p.Ser2088=) n.5420A= | |
14 | g.21393532G>A | CA388879964 | CHD8 | c.5426C>T (p.Ser1809Leu) c.3963C>T c.6263C>T (p.Ser2088Leu) n.5419C>T | |
14 | g.21393532G>C | CA388879966 | CHD8 | c.5426C>G (p.Ser1809Ter) c.3963C>G c.6263C>G (p.Ser2088Ter) n.5419C>G | |
14 | g.21393532G>T | CA388879968 | CHD8 | c.5426C>A (p.Ser1809Ter) c.3963C>A c.6263C>A (p.Ser2088Ter) n.5419C>A | gnomAD v4 |
14 | g.21393533A>C | CA388879971 | CHD8 | c.5425T>G (p.Ser1809Ala) c.3962T>G c.6262T>G (p.Ser2088Ala) n.5418T>G | COSMIC COSMIC |
14 | g.21393533A>G | CA388879973 | CHD8 | c.5425T>C (p.Ser1809Pro) c.3962T>C c.6262T>C (p.Ser2088Pro) n.5418T>C | |
14 | g.21393533A>T | CA388879974 | CHD8 | c.5425T>A (p.Ser1809Thr) c.3962T>A c.6262T>A (p.Ser2088Thr) n.5418T>A | |
14 | g.21393534G>A | CA7090815 | CHD8 | c.5424C>T (p.Ser1808=) c.3961C>T c.6261C>T (p.Ser2087=) n.5417C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393534G>C | CA484994789 | CHD8 | c.5424C>G (p.Ser1808=) c.3961C>G c.6261C>G (p.Ser2087=) n.5417C>G | gnomAD v4 |
14 | g.21393534G= | CA2122506011 | CHD8 | c.5424C= (p.Ser1808=) c.3961C= c.6261C= (p.Ser2087=) n.5417C= | |
14 | g.21393534G>T | CA484994791 | CHD8 | c.5424C>A (p.Ser1808=) c.3961C>A c.6261C>A (p.Ser2087=) n.5417C>A | dbSNP gnomAD v4 |
14 | g.21393535G>A | CA388879983 | CHD8 | c.5423C>T (p.Ser1808Phe) c.3960C>T c.6260C>T (p.Ser2087Phe) n.5416C>T | |
14 | g.21393535G>C | CA388879982 | CHD8 | c.5423C>G (p.Ser1808Cys) c.3960C>G c.6260C>G (p.Ser2087Cys) n.5416C>G | |
14 | g.21393535G>T | CA388879981 | CHD8 | c.5423C>A (p.Ser1808Tyr) c.3960C>A c.6260C>A (p.Ser2087Tyr) n.5416C>A | gnomAD v4 |