| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80108528A= | CA2277812803 | GAA | c.1115A= (p.His372=) | |
| 17 | g.80108528A>C | CA401364983 | GAA | c.1115A>C (p.His372Pro) | |
| 17 | g.80108528A>G | CA401364984 | GAA | c.1115A>G (p.His372Arg) | |
| 17 | g.80108528A>T | CA16041889 | GAA | c.1115A>T (p.His372Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80108529C>A | CA401364985 | GAA | c.1116C>A (p.His372Gln) | dbSNP |
| 17 | g.80108529C= | CA2277812804 | GAA | c.1116C= (p.His372=) | |
| 17 | g.80108529C>G | CA401364986 | GAA | c.1116C>G (p.His372Gln) | |
| 17 | g.80108529C>T | CA8815174 | GAA | c.1116C>T (p.His372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80108530del | CA2695200353 | GAA | c.1117del (p.Leu373CysfsTer19) | ClinVar |
| 17 | g.80108530C>A | CA401364987 | GAA | c.1117C>A (p.Leu373Met) | |
| 17 | g.80108530C>G | CA401364988 | GAA | c.1117C>G (p.Leu373Val) | |
| 17 | g.80108530C>T | CA502402392 | GAA | c.1117C>T (p.Leu373=) | |
| 17 | g.80108531T>A | CA401364989 | GAA | c.1118T>A (p.Leu373Gln) | |
| 17 | g.80108531T>C | CA401364990 | GAA | c.1118T>C (p.Leu373Pro) | |
| 17 | g.80108531T>G | CA401364991 | GAA | c.1118T>G (p.Leu373Arg) | ClinVar dbSNP |
| 17 | g.80108531T= | CA2277812805 | GAA | c.1118T= (p.Leu373=) | |
| 17 | g.80108532G>A | CA8815175 | GAA | c.1119G>A (p.Leu373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80108532G>C | CA502402393 | GAA | c.1119G>C (p.Leu373=) | |
| 17 | g.80108532G= | CA2277812806 | GAA | c.1119G= (p.Leu373=) | |
| 17 | g.80108532G>T | CA502402394 | GAA | c.1119G>T (p.Leu373=) | |
| 17 | g.80108533T>A | CA401364993 | GAA | c.1120T>A (p.Cys374Ser) | |
| 17 | g.80108533T>C | CA401364994 | GAA | c.1120T>C (p.Cys374Arg) | |
| 17 | g.80108533T>G | CA401364992 | GAA | c.1120T>G (p.Cys374Gly) | |
| 17 | g.80108534G>A | CA401364995 | GAA | c.1121G>A (p.Cys374Tyr) | dbSNP |
| 17 | g.80108534G>C | CA401364996 | GAA | c.1121G>C (p.Cys374Ser) | |
| 17 | g.80108534G= | CA2277812807 | GAA | c.1121G= (p.Cys374=) | |
| 17 | g.80108534G>T | CA401364997 | GAA | c.1121G>T (p.Cys374Phe) | |
| 17 | g.80108535C>A | CA401364998 | GAA | c.1122C>A (p.Cys374Ter) | |
| 17 | g.80108535C= | CA2277812808 | GAA | c.1122C= (p.Cys374=) | |
| 17 | g.80108535C>G | CA401364999 | GAA | c.1122C>G (p.Cys374Trp) | |
| 17 | g.80108535C>T | CA502402395 | GAA | c.1122C>T (p.Cys374=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80108536C>A | CA401365001 | GAA | c.1123C>A (p.Arg375Ser) | ClinVar gnomAD v4 |
| 17 | g.80108536C= | CA2277812809 | GAA | c.1123C= (p.Arg375=) | |
| 17 | g.80108536C>G | CA401365000 | GAA | c.1123C>G (p.Arg375Gly) | |
| 17 | g.80108536C>T | CA8815176 | GAA | c.1123C>T (p.Arg375Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80108537G>A | CA8815177 | GAA | c.1124G>A (p.Arg375His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80108537G>C | CA401365002 | GAA | c.1124G>C (p.Arg375Pro) | gnomAD v4 |
| 17 | g.80108537G= | CA2277812810 | GAA | c.1124G= (p.Arg375=) | |
| 17 | g.80108537G>T | CA8815178 | GAA | c.1124G>T (p.Arg375Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80108538C>A | CA502402396 | GAA | c.1125C>A (p.Arg375=) | |
| 17 | g.80108538C>G | CA502402397 | GAA | c.1125C>G (p.Arg375=) | |
| 17 | g.80108538C>T | CA502402398 | GAA | c.1125C>T (p.Arg375=) | |
| 17 | g.80108539T>A | CA401365003 | GAA | c.1126T>A (p.Trp376Arg) | |
| 17 | g.80108539T>C | CA401365004 | GAA | c.1126T>C (p.Trp376Arg) | |
| 17 | g.80108539T>G | CA401365005 | GAA | c.1126T>G (p.Trp376Gly) | |
| 17 | g.80108539_80108540delinsTG | CA2277812811 | GAA | c.1126_1127delinsTG (p.Trp376=) | |
| 17 | g.80108540G>A | CA401365006 | GAA | c.1127G>A (p.Trp376Ter) | |
| 17 | g.80108540G>C | CA401365008 | GAA | c.1127G>C (p.Trp376Ser) | |
| 17 | g.80108540G>T | CA401365007 | GAA | c.1127G>T (p.Trp376Leu) | |
| 17 | g.80108540_80108542delinsGGG | CA2277812812 | GAA | c.1127_1129delinsGGG (p.Trp376=) |