Genename |
Variants |
ASIC2(NM_183377,acid-sensing (proton-gated) ion channel 2,563aa) |
g.17:31350908C>A,c.1320G>T,p.K440N |
ASIC2(NM_183377,acid-sensing (proton-gated) ion channel 2,563aa) |
g.17:31341017G>A,c.1658C>T,p.T553M |
ASIC1(NM_020039,acid-sensing (proton-gated) ion channel 1,574aa) |
g.12:50473717G>A,c.1084G>A,p.V362M |
ASIC1(NM_020039,acid-sensing (proton-gated) ion channel 1,574aa) |
g.12:50471866G>A,c.793G>A,p.V265M |
ASH2L(NM_001105214,ash2 (absent, small, or homeotic)-like (Drosophila),534aa) |
g.8:37968336G>A,c.288G>A,p.M96I |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155491163G>A,c.148C>T,p.R50C |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155452170C>T,c.491G>A,p.R164H |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155452072G>A,c.589C>T,p.L197F |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155451832T>C,c.829A>G,p.S277G |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155451343A>C,c.1318T>G,p.C440G |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155451028A>G,c.1633T>C,p.S545P |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155450713G>A,c.1948C>T,p.L650F |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155450332G>A,c.2329C>T,p.R777C |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155449621C>T,c.3040G>A,p.V1014M |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155449342T>C,c.3319A>G,p.I1107V |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155449168T>C,c.3493A>G,p.T1165A |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155448300G>C,c.4361C>G,p.T1454R |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155448109T>C,c.4552A>G,p.R1518G |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155447818T>C,c.4843A>G,p.R1615G |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155408686T>A,c.5260A>T,p.S1754C |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155408644G>A,c.5302C>T,p.P1768S |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155408635T>C,c.5311A>G,p.T1771A |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155408303C>G,c.5643G>C,p.E1881D |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155408125T>C,c.5821A>G,p.N1941D |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155327441C>T,c.6895G>A,p.A2299T |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155327420G>A,c.6916C>T,p.R2306W |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155327116T>C,c.7046A>G,p.N2349S |
ASH1L(NM_018489,ash1 (absent, small, or homeotic)-like (Drosophila),2964aa) |
g.1:155317567G>C,c.7683C>G,p.D2561E |