Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.11556604G>A | CA394768210 | LITAF | c.127C>T (p.Pro43Ser) c.-59-2915C>T (n.-59-2915C>T) c.217C>T (p.Pro73Ser) n.261C>T | |
16 | g.11556604G>C | CA394768212 | LITAF | c.127C>G (p.Pro43Ala) c.-59-2915C>G (n.-59-2915C>G) c.217C>G (p.Pro73Ala) n.261C>G | |
16 | g.11556604G>T | CA394768214 | LITAF | c.127C>A (p.Pro43Thr) c.-59-2915C>A (n.-59-2915C>A) c.217C>A (p.Pro73Thr) n.261C>A | |
16 | g.11556605C>A | CA493626898 | LITAF | c.126G>T (p.Gly42=) c.-59-2916G>T (n.-59-2916G>T) c.216G>T (p.Gly72=) n.260G>T | |
16 | g.11556605C>G | CA493626899 | LITAF | c.126G>C (p.Gly42=) c.-59-2916G>C (n.-59-2916G>C) c.216G>C (p.Gly72=) n.260G>C | |
16 | g.11556605C>T | CA493626900 | LITAF | c.126G>A (p.Gly42=) c.-59-2916G>A (n.-59-2916G>A) c.216G>A (p.Gly72=) n.260G>A | |
16 | g.11556606C>A | CA394768219 | LITAF | c.125G>T (p.Gly42Val) c.-59-2917G>T (n.-59-2917G>T) c.215G>T (p.Gly72Val) n.259G>T | |
16 | g.11556606C>G | CA394768226 | LITAF | c.125G>C (p.Gly42Ala) c.-59-2917G>C (n.-59-2917G>C) c.215G>C (p.Gly72Ala) n.259G>C | gnomAD v4 |
16 | g.11556606C>T | CA394768221 | LITAF | c.125G>A (p.Gly42Glu) c.-59-2917G>A (n.-59-2917G>A) c.215G>A (p.Gly72Glu) n.259G>A | |
16 | g.11556607C>A | CA7904178 | LITAF | c.124G>T (p.Gly42Trp) c.-59-2918G>T (n.-59-2918G>T) c.214G>T (p.Gly72Trp) n.258G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.11556607C= | CA2207698150 | LITAF | c.124G= (p.Gly42=) c.-59-2918G= (n.-59-2918G=) c.214G= (p.Gly72=) n.258G= | |
16 | g.11556607C>G | CA394768230 | LITAF | c.124G>C (p.Gly42Arg) c.-59-2918G>C (n.-59-2918G>C) c.214G>C (p.Gly72Arg) n.258G>C | |
16 | g.11556607C>T | CA394768234 | LITAF | c.124G>A (p.Gly42Arg) c.-59-2918G>A (n.-59-2918G>A) c.214G>A (p.Gly72Arg) n.258G>A | dbSNP gnomAD v4 |
16 | g.11556608A= | CA2207698151 | LITAF | c.123T= (p.Pro41=) c.-59-2919T= (n.-59-2919T=) c.213T= (p.Pro71=) n.257T= | |
16 | g.11556608A>C | CA7904180 | LITAF | c.123T>G (p.Pro41=) c.-59-2919T>G (n.-59-2919T>G) c.213T>G (p.Pro71=) n.257T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.11556608A>G | CA7904179 | LITAF | c.123T>C (p.Pro41=) c.-59-2919T>C (n.-59-2919T>C) c.213T>C (p.Pro71=) n.257T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.11556608A>T | CA493626906 | LITAF | c.123T>A (p.Pro41=) c.-59-2919T>A (n.-59-2919T>A) c.213T>A (p.Pro71=) n.257T>A | |
16 | g.11556609G>A | CA394768242 | LITAF | c.122C>T (p.Pro41Leu) c.-59-2920C>T (n.-59-2920C>T) c.212C>T (p.Pro71Leu) n.256C>T | |
16 | g.11556609G>C | CA394768245 | LITAF | c.122C>G (p.Pro41Arg) c.-59-2920C>G (n.-59-2920C>G) c.212C>G (p.Pro71Arg) n.256C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.11556609G= | CA2207698152 | LITAF | c.122C= (p.Pro41=) c.-59-2920C= (n.-59-2920C=) c.212C= (p.Pro71=) n.256C= | |
16 | g.11556609G>T | CA394768248 | LITAF | c.122C>A (p.Pro41His) c.-59-2920C>A (n.-59-2920C>A) c.212C>A (p.Pro71His) n.256C>A | |
16 | g.11556610G>A | CA394768252 | LITAF | c.121C>T (p.Pro41Ser) c.-59-2921C>T (n.-59-2921C>T) c.211C>T (p.Pro71Ser) n.255C>T | |
16 | g.11556610G>C | CA7904181 | LITAF | c.121C>G (p.Pro41Ala) c.-59-2921C>G (n.-59-2921C>G) c.211C>G (p.Pro71Ala) n.255C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.11556610G= | CA2207698153 | LITAF | c.121C= (p.Pro41=) c.-59-2921C= (n.-59-2921C=) c.211C= (p.Pro71=) n.255C= | |
16 | g.11556610G>T | CA394768257 | LITAF | c.121C>A (p.Pro41Thr) c.-59-2921C>A (n.-59-2921C>A) c.211C>A (p.Pro71Thr) n.255C>A | |
16 | g.11556611C>A | CA394768260 | LITAF | c.120G>T (p.Met40Ile) c.-59-2922G>T (n.-59-2922G>T) c.210G>T (p.Met70Ile) n.254G>T | dbSNP |
16 | g.11556611C= | CA2207698154 | LITAF | c.120G= (p.Met40=) c.-59-2922G= (n.-59-2922G=) c.210G= (p.Met70=) n.254G= | |
16 | g.11556611C>G | CA394768265 | LITAF | c.120G>C (p.Met40Ile) c.-59-2922G>C (n.-59-2922G>C) c.210G>C (p.Met70Ile) n.254G>C | |
16 | g.11556611C>T | CA394768262 | LITAF | c.120G>A (p.Met40Ile) c.-59-2922G>A (n.-59-2922G>A) c.210G>A (p.Met70Ile) n.254G>A | |
16 | g.11556612A>C | CA394768268 | LITAF | c.119T>G (p.Met40Arg) c.119T>G c.-59-2923T>G (n.-59-2923T>G) c.209T>G (p.Met70Arg) n.253T>G | |
16 | g.11556612A>G | CA394768271 | LITAF | c.119T>C (p.Met40Thr) c.119T>C c.-59-2923T>C (n.-59-2923T>C) c.209T>C (p.Met70Thr) n.253T>C | |
16 | g.11556612A>T | CA394768274 | LITAF | c.119T>A (p.Met40Lys) c.119T>A c.-59-2923T>A (n.-59-2923T>A) c.209T>A (p.Met70Lys) n.253T>A | |
16 | g.11556613T>A | CA394768278 | LITAF | c.118A>T (p.Met40Leu) c.118A>T c.-59-2924A>T (n.-59-2924A>T) c.208A>T (p.Met70Leu) n.252A>T | gnomAD v4 |
16 | g.11556613T>C | CA394768280 | LITAF | c.118A>G (p.Met40Val) c.118A>G c.-59-2924A>G (n.-59-2924A>G) c.208A>G (p.Met70Val) n.252A>G | |
16 | g.11556613T>G | CA394768284 | LITAF | c.118A>C (p.Met40Leu) c.118A>C c.-59-2924A>C (n.-59-2924A>C) c.208A>C (p.Met70Leu) n.252A>C | gnomAD v4 |
16 | g.11556614G>A | CA493626911 | LITAF | c.117C>T (p.Pro39=) c.-59-2925C>T (n.-59-2925C>T) c.207C>T (p.Pro69=) n.251C>T | |
16 | g.11556614G>C | CA493626912 | LITAF | c.117C>G (p.Pro39=) c.-59-2925C>G (n.-59-2925C>G) c.207C>G (p.Pro69=) n.251C>G | |
16 | g.11556614G>T | CA493626913 | LITAF | c.117C>A (p.Pro39=) c.-59-2925C>A (n.-59-2925C>A) c.207C>A (p.Pro69=) n.251C>A | |
16 | g.11556615G>A | CA394768289 | LITAF | c.116C>T (p.Pro39Leu) c.-59-2926C>T (n.-59-2926C>T) c.206C>T (p.Pro69Leu) n.250C>T | |
16 | g.11556615G>C | CA394768291 | LITAF | c.116C>G (p.Pro39Arg) c.-59-2926C>G (n.-59-2926C>G) c.206C>G (p.Pro69Arg) n.250C>G | |
16 | g.11556615G>T | CA394768294 | LITAF | c.116C>A (p.Pro39His) c.-59-2926C>A (n.-59-2926C>A) c.206C>A (p.Pro69His) n.250C>A | |
16 | g.11556616G>A | CA7904182 | LITAF | c.115C>T (p.Pro39Ser) c.-59-2927C>T (n.-59-2927C>T) c.205C>T (p.Pro69Ser) n.249C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.11556616G>C | CA394768298 | LITAF | c.115C>G (p.Pro39Ala) c.-59-2927C>G (n.-59-2927C>G) c.205C>G (p.Pro69Ala) n.249C>G | |
16 | g.11556616G= | CA2207698155 | LITAF | c.115C= (p.Pro39=) c.-59-2927C= (n.-59-2927C=) c.205C= (p.Pro69=) n.249C= | |
16 | g.11556616G>T | CA394768301 | LITAF | c.115C>A (p.Pro39Thr) c.-59-2927C>A (n.-59-2927C>A) c.205C>A (p.Pro69Thr) n.249C>A | |
16 | g.11556617A>C | CA493626918 | LITAF | c.114T>G (p.Ala38=) c.-59-2928T>G (n.-59-2928T>G) c.204T>G (p.Ala68=) n.248T>G | |
16 | g.11556617A>G | CA493626917 | LITAF | c.114T>C (p.Ala38=) c.-59-2928T>C (n.-59-2928T>C) c.204T>C (p.Ala68=) n.248T>C | |
16 | g.11556617A>T | CA493626916 | LITAF | c.114T>A (p.Ala38=) c.-59-2928T>A (n.-59-2928T>A) c.204T>A (p.Ala68=) n.248T>A | |
16 | g.11556618G>A | CA394768311 | LITAF | c.113C>T (p.Ala38Val) c.-59-2929C>T (n.-59-2929C>T) c.203C>T (p.Ala68Val) n.247C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.11556618G>C | CA394768304 | LITAF | c.113C>G (p.Ala38Gly) c.-59-2929C>G (n.-59-2929C>G) c.203C>G (p.Ala68Gly) n.247C>G | gnomAD v4 |