Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382895G>A | CA390850245 | SERPINA1 | c.343C>T (p.Gln115Ter) c.85C>T (p.Gln29Ter) | ClinVar |
14 | g.94382895G>C | CA390850247 | SERPINA1 | c.343C>G (p.Gln115Glu) c.85C>G (p.Gln29Glu) | dbSNP gnomAD v4 |
14 | g.94382895G= | CA2155954830 | SERPINA1 | c.343C= (p.Gln115=) c.85C= (p.Gln29=) | |
14 | g.94382895G>T | CA390850249 | SERPINA1 | c.343C>A (p.Gln115Lys) c.85C>A (p.Gln29Lys) | |
14 | g.94382896A>C | CA487841211 | SERPINA1 | c.342T>G (p.Ala114=) c.84T>G (p.Ala28=) | |
14 | g.94382896A>G | CA487841213 | SERPINA1 | c.342T>C (p.Ala114=) c.84T>C (p.Ala28=) | |
14 | g.94382896A>T | CA487841215 | SERPINA1 | c.342T>A (p.Ala114=) c.84T>A (p.Ala28=) | |
14 | g.94382897G>A | CA390850250 | SERPINA1 | c.341C>T (p.Ala114Val) c.83C>T (p.Ala28Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382897G>C | CA390850253 | SERPINA1 | c.341C>G (p.Ala114Gly) c.83C>G (p.Ala28Gly) | |
14 | g.94382897G= | CA2155954831 | SERPINA1 | c.341C= (p.Ala114=) c.83C= (p.Ala28=) | |
14 | g.94382897G>T | CA390850252 | SERPINA1 | c.341C>A (p.Ala114Asp) c.83C>A (p.Ala28Asp) | |
14 | g.94382898C>A | CA390850255 | SERPINA1 | c.340G>T (p.Ala114Ser) c.82G>T (p.Ala28Ser) | dbSNP gnomAD v4 |
14 | g.94382898C= | CA2155954832 | SERPINA1 | c.340G= (p.Ala114=) c.82G= (p.Ala28=) | |
14 | g.94382898C>G | CA390850257 | SERPINA1 | c.340G>C (p.Ala114Pro) c.82G>C (p.Ala28Pro) | |
14 | g.94382898C>T | CA390850259 | SERPINA1 | c.340G>A (p.Ala114Thr) c.82G>A (p.Ala28Thr) | |
14 | g.94382899C>A | CA390850260 | SERPINA1 | c.339G>T (p.Glu113Asp) c.81G>T (p.Glu27Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382899C= | CA2155954833 | SERPINA1 | c.339G= (p.Glu113=) c.81G= (p.Glu27=) | |
14 | g.94382899C>G | CA390850261 | SERPINA1 | c.339G>C (p.Glu113Asp) c.81G>C (p.Glu27Asp) | |
14 | g.94382899C>T | CA487841220 | SERPINA1 | c.339G>A (p.Glu113=) c.81G>A (p.Glu27=) | gnomAD v4 |
14 | g.94382900T>A | CA390850263 | SERPINA1 | c.338A>T (p.Glu113Val) c.80A>T (p.Glu27Val) | |
14 | g.94382900T>C | CA390850265 | SERPINA1 | c.338A>G (p.Glu113Gly) c.80A>G (p.Glu27Gly) | |
14 | g.94382900T>G | CA390850267 | SERPINA1 | c.338A>C (p.Glu113Ala) c.80A>C (p.Glu27Ala) | |
14 | g.94382901C>A | CA390850268 | SERPINA1 | c.337G>T (p.Glu113Ter) c.79G>T (p.Glu27Ter) | |
14 | g.94382901C= | CA2155954834 | SERPINA1 | c.337G= (p.Glu113=) c.79G= (p.Glu27=) | |
14 | g.94382901C>G | CA390850270 | SERPINA1 | c.337G>C (p.Glu113Gln) c.79G>C (p.Glu27Gln) | |
14 | g.94382901C>T | CA7327512 | SERPINA1 | c.337G>A (p.Glu113Lys) c.79G>A (p.Glu27Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382902C>A | CA487841230 | SERPINA1 | c.336G>T (p.Pro112=) c.78G>T (p.Pro26=) | |
14 | g.94382902C= | CA2155954835 | SERPINA1 | c.336G= (p.Pro112=) c.78G= (p.Pro26=) | |
14 | g.94382902C>G | CA487841231 | SERPINA1 | c.336G>C (p.Pro112=) c.78G>C (p.Pro26=) | |
14 | g.94382902C>T | CA7327513 | SERPINA1 | c.336G>A (p.Pro112=) c.78G>A (p.Pro26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382903G>A | CA7327514 | SERPINA1 | c.335C>T (p.Pro112Leu) c.77C>T (p.Pro26Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382903G>C | CA390850273 | SERPINA1 | c.335C>G (p.Pro112Arg) c.77C>G (p.Pro26Arg) | |
14 | g.94382903G= | CA2155954836 | SERPINA1 | c.335C= (p.Pro112=) c.77C= (p.Pro26=) | |
14 | g.94382903G>T | CA390850274 | SERPINA1 | c.335C>A (p.Pro112Gln) c.77C>A (p.Pro26Gln) | |
14 | g.94382904G>A | CA390850277 | SERPINA1 | c.334C>T (p.Pro112Ser) c.76C>T (p.Pro26Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382904G>C | CA390850278 | SERPINA1 | c.334C>G (p.Pro112Ala) c.76C>G (p.Pro26Ala) | |
14 | g.94382904G= | CA2155954837 | SERPINA1 | c.334C= (p.Pro112=) c.76C= (p.Pro26=) | |
14 | g.94382904G>T | CA10606617 | SERPINA1 | c.334C>A (p.Pro112Thr) c.76C>A (p.Pro26Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382905A= | CA2155954838 | SERPINA1 | c.333T= (p.Ile111=) c.75T= (p.Ile25=) | |
14 | g.94382905A>C | CA10641355 | SERPINA1 | c.333T>G (p.Ile111Met) c.75T>G (p.Ile25Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382905A>G | CA487841235 | SERPINA1 | c.333T>C (p.Ile111=) c.75T>C (p.Ile25=) | |
14 | g.94382905A>T | CA487841234 | SERPINA1 | c.333T>A (p.Ile111=) c.75T>A (p.Ile25=) | |
14 | g.94382906A>C | CA390850282 | SERPINA1 | c.332T>G (p.Ile111Ser) c.74T>G (p.Ile25Ser) | |
14 | g.94382906A>G | CA390850283 | SERPINA1 | c.332T>C (p.Ile111Thr) c.74T>C (p.Ile25Thr) | gnomAD v4 |
14 | g.94382906A>T | CA390850285 | SERPINA1 | c.332T>A (p.Ile111Asn) c.74T>A (p.Ile25Asn) | |
14 | g.94382907T>A | CA390850287 | SERPINA1 | c.331A>T (p.Ile111Phe) c.73A>T (p.Ile25Phe) | |
14 | g.94382907T>C | CA390850289 | SERPINA1 | c.331A>G (p.Ile111Val) c.73A>G (p.Ile25Val) | gnomAD v4 |
14 | g.94382907T>G | CA390850290 | SERPINA1 | c.331A>C (p.Ile111Leu) c.73A>C (p.Ile25Leu) | |
14 | g.94382908C>A | CA390850292 | SERPINA1 | c.330G>T (p.Glu110Asp) c.72G>T (p.Glu24Asp) | gnomAD v4 |
14 | g.94382908C>G | CA390850294 | SERPINA1 | c.330G>C (p.Glu110Asp) c.72G>C (p.Glu24Asp) |