Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108554_80108555delinsAC | CA2277812821 | GAA | c.1141_1142delinsAC (p.Thr381=) | |
17 | g.80108555C>A | CA401365037 | GAA | c.1142C>A (p.Thr381Asn) | |
17 | g.80108555C>G | CA401365038 | GAA | c.1142C>G (p.Thr381Ser) | |
17 | g.80108555C>T | CA401365039 | GAA | c.1142C>T (p.Thr381Ile) | |
17 | g.80108556del | CA8815181 | GAA | c.1143del (p.Ala382LeufsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108556C>A | CA502402409 | GAA | c.1143C>A (p.Thr381=) | |
17 | g.80108556C= | CA2277812822 | GAA | c.1143C= (p.Thr381=) | |
17 | g.80108556C>G | CA294892260 | GAA | c.1143C>G (p.Thr381=) | dbSNP |
17 | g.80108556C>T | CA8815182 | GAA | c.1143C>T (p.Thr381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108556_80108557insTAG | CA2640286107 | GAA | c.1143_1144insTAG | gnomAD v4 |
17 | g.80108557G>A | CA401365040 | GAA | c.1144G>A (p.Ala382Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108557G>C | CA401365041 | GAA | c.1144G>C (p.Ala382Pro) | |
17 | g.80108557G= | CA2277812823 | GAA | c.1144G= (p.Ala382=) | |
17 | g.80108557G>T | CA401365042 | GAA | c.1144G>T (p.Ala382Ser) | gnomAD v4 COSMIC |
17 | g.80108558C>A | CA401365043 | GAA | c.1145C>A (p.Ala382Asp) | |
17 | g.80108558C= | CA2277812824 | GAA | c.1145C= (p.Ala382=) | |
17 | g.80108558C>G | CA401365044 | GAA | c.1145C>G (p.Ala382Gly) | dbSNP |
17 | g.80108558C>T | CA401365045 | GAA | c.1145C>T (p.Ala382Val) | |
17 | g.80108559T>A | CA502402411 | GAA | c.1146T>A (p.Ala382=) | |
17 | g.80108559T>C | CA502402412 | GAA | c.1146T>C (p.Ala382=) | |
17 | g.80108559T>G | CA502402410 | GAA | c.1146T>G (p.Ala382=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108559T= | CA2277812825 | GAA | c.1146T= (p.Ala382=) | |
17 | g.80108560A= | CA2277812826 | GAA | c.1147A= (p.Ile383=) | |
17 | g.80108560A>C | CA401365047 | GAA | c.1147A>C (p.Ile383Leu) | |
17 | g.80108560A>G | CA247028 | GAA | c.1147A>G (p.Ile383Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108560A>T | CA401365046 | GAA | c.1147A>T (p.Ile383Phe) | |
17 | g.80108561T>A | CA401365048 | GAA | c.1148T>A (p.Ile383Asn) | |
17 | g.80108561T>C | CA401365049 | GAA | c.1148T>C (p.Ile383Thr) | gnomAD v4 |
17 | g.80108561T>G | CA401365050 | GAA | c.1148T>G (p.Ile383Ser) | |
17 | g.80108562C>A | CA502402414 | GAA | c.1149C>A (p.Ile383=) | |
17 | g.80108562C>G | CA401365051 | GAA | c.1149C>G (p.Ile383Met) | gnomAD v4 |
17 | g.80108562C>T | CA502402413 | GAA | c.1149C>T (p.Ile383=) | ClinVar COSMIC |
17 | g.80108563A= | CA2277812828 | GAA | c.1150A= (p.Thr384=) | |
17 | g.80108563A>C | CA401365052 | GAA | c.1150A>C (p.Thr384Pro) | dbSNP gnomAD v4 |
17 | g.80108563A>G | CA401365053 | GAA | c.1150A>G (p.Thr384Ala) | gnomAD v4 |
17 | g.80108563A>T | CA401365054 | GAA | c.1150A>T (p.Thr384Ser) | |
17 | g.80108563_80108564delinsAC | CA2277812827 | GAA | c.1150_1151delinsAC (p.Thr384=) | |
17 | g.80108564C>A | CA401365055 | GAA | c.1151C>A (p.Thr384Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108564C= | CA2277812829 | GAA | c.1151C= (p.Thr384=) | |
17 | g.80108564C>G | CA401365056 | GAA | c.1151C>G (p.Thr384Ser) | |
17 | g.80108564C>T | CA401365057 | GAA | c.1151C>T (p.Thr384Ile) | dbSNP |
17 | g.80108566del | CA658798978 | GAA | c.1153del (p.Arg385AlafsTer7) | ClinVar dbSNP |
17 | g.80108565C>A | CA502402415 | GAA | c.1152C>A (p.Thr384=) | |
17 | g.80108565C>G | CA502402417 | GAA | c.1152C>G (p.Thr384=) | |
17 | g.80108565C>T | CA502402416 | GAA | c.1152C>T (p.Thr384=) | |
17 | g.80108566C>A | CA401365059 | GAA | c.1153C>A (p.Arg385Ser) | |
17 | g.80108566C= | CA2277812830 | GAA | c.1153C= (p.Arg385=) | |
17 | g.80108566C>G | CA401365058 | GAA | c.1153C>G (p.Arg385Gly) | |
17 | g.80108566C>T | CA8815183 | GAA | c.1153C>T (p.Arg385Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108567G>A | CA8815184 | GAA | c.1154G>A (p.Arg385His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |