UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.79559358T>A | CA470417515 | SFTPA2 | c.126A>T (p.Pro42=) c.177A>T (p.Pro59=) c.156A>T (p.Pro52=) | |
| 10 | g.79559358T>C | CA470417516 | SFTPA2 | c.126A>G (p.Pro42=) c.177A>G (p.Pro59=) c.156A>G (p.Pro52=) | |
| 10 | g.79559358T>G | CA470417517 | SFTPA2 | c.126A>C (p.Pro42=) c.177A>C (p.Pro59=) c.156A>C (p.Pro52=) | |
| 10 | g.79559358dup | CA2609869141 | SFTPA2 | c.126dup (p.Gly43ArgfsTer?) c.177dup (p.Gly60ArgfsTer?) c.156dup (p.Gly53ArgfsTer?) | gnomAD v4 |
| 10 | g.79559361_79559370del | CA2574596585 | SFTPA2 | c.117_126del (p.His39GlnfsTer?) c.168_177del (p.His56GlnfsTer?) c.147_156del (p.His49GlnfsTer?) | |
| 10 | g.79559359G>A | CA377353959 | SFTPA2 | c.125C>T (p.Pro42Leu) c.176C>T (p.Pro59Leu) c.155C>T (p.Pro52Leu) | |
| 10 | g.79559359G>C | CA377353960 | SFTPA2 | c.125C>G (p.Pro42Arg) c.176C>G (p.Pro59Arg) c.155C>G (p.Pro52Arg) | gnomAD v4 |
| 10 | g.79559359G>T | CA377353961 | SFTPA2 | c.125C>A (p.Pro42Gln) c.176C>A (p.Pro59Gln) c.155C>A (p.Pro52Gln) | |
| 10 | g.79559360G>A | CA377353962 | SFTPA2 | c.124C>T (p.Pro42Ser) c.175C>T (p.Pro59Ser) c.154C>T (p.Pro52Ser) | |
| 10 | g.79559360G>C | CA377353963 | SFTPA2 | c.124C>G (p.Pro42Ala) c.175C>G (p.Pro59Ala) c.154C>G (p.Pro52Ala) | |
| 10 | g.79559360G>T | CA377353964 | SFTPA2 | c.124C>A (p.Pro42Thr) c.175C>A (p.Pro59Thr) c.154C>A (p.Pro52Thr) | dbSNP |
| 10 | g.79559361del | CA2609869142 | SFTPA2 | c.123del (p.Pro42GlnfsTer?) c.174del (p.Pro59GlnfsTer?) c.153del (p.Pro52GlnfsTer?) | gnomAD v4 |
| 10 | g.79559361C>A | CA470417518 | SFTPA2 | c.123G>T (p.Leu41=) c.174G>T (p.Leu58=) c.153G>T (p.Leu51=) | COSMIC |
| 10 | g.79559361C= | CA1922245521 | SFTPA2 | c.123G= (p.Leu41=) c.174G= (p.Leu58=) c.153G= (p.Leu51=) | |
| 10 | g.79559361C>G | CA470417519 | SFTPA2 | c.123G>C (p.Leu41=) c.174G>C (p.Leu58=) c.153G>C (p.Leu51=) | |
| 10 | g.79559361C>T | CA5574204 | SFTPA2 | c.123G>A (p.Leu41=) c.174G>A (p.Leu58=) c.153G>A (p.Leu51=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.79559362A>C | CA377353967 | SFTPA2 | c.122T>G (p.Leu41Arg) c.173T>G (p.Leu58Arg) c.152T>G (p.Leu51Arg) | gnomAD v4 |
| 10 | g.79559362A>G | CA377353965 | SFTPA2 | c.122T>C (p.Leu41Pro) c.173T>C (p.Leu58Pro) c.152T>C (p.Leu51Pro) | |
| 10 | g.79559362A>T | CA377353966 | SFTPA2 | c.122T>A (p.Leu41Gln) c.173T>A (p.Leu58Gln) c.152T>A (p.Leu51Gln) | COSMIC |
| 10 | g.79559363G>A | CA470417521 | SFTPA2 | c.121C>T (p.Leu41=) c.172C>T (p.Leu58=) c.151C>T (p.Leu51=) | |
| 10 | g.79559363G>C | CA377353968 | SFTPA2 | c.121C>G (p.Leu41Val) c.172C>G (p.Leu58Val) c.151C>G (p.Leu51Val) | dbSNP |
| 10 | g.79559363G= | CA1922245522 | SFTPA2 | c.121C= (p.Leu41=) c.172C= (p.Leu58=) c.151C= (p.Leu51=) | |
| 10 | g.79559363G>T | CA377353969 | SFTPA2 | c.121C>A (p.Leu41Met) c.172C>A (p.Leu58Met) c.151C>A (p.Leu51Met) | |
| 10 | g.79559363_79559365del | CA2609869143 | SFTPA2 | c.119_121del (p.Gly40_Leu41delinsVal) c.170_172del (p.Gly57_Leu58delinsVal) c.149_151del (p.Gly50_Leu51delinsVal) | gnomAD v4 |
| 10 | g.79559364G>A | CA470417524 | SFTPA2 | c.120C>T (p.Gly40=) c.171C>T (p.Gly57=) c.150C>T (p.Gly50=) | dbSNP |
| 10 | g.79559364G>C | CA470417523 | SFTPA2 | c.120C>G (p.Gly40=) c.171C>G (p.Gly57=) c.150C>G (p.Gly50=) | gnomAD v4 |
| 10 | g.79559364G= | CA1922245523 | SFTPA2 | c.120C= (p.Gly40=) c.171C= (p.Gly57=) c.150C= (p.Gly50=) | |
| 10 | g.79559364G>T | CA470417522 | SFTPA2 | c.120C>A (p.Gly40=) c.171C>A (p.Gly57=) c.150C>A (p.Gly50=) | |
| 10 | g.79559365C>A | CA377353970 | SFTPA2 | c.119G>T (p.Gly40Val) c.170G>T (p.Gly57Val) c.149G>T (p.Gly50Val) | |
| 10 | g.79559365C= | CA1922245524 | SFTPA2 | c.119G= (p.Gly40=) c.170G= (p.Gly57=) c.149G= (p.Gly50=) | |
| 10 | g.79559365C>G | CA377353971 | SFTPA2 | c.119G>C (p.Gly40Ala) c.170G>C (p.Gly57Ala) c.149G>C (p.Gly50Ala) | |
| 10 | g.79559365C>T | CA210251161 | SFTPA2 | c.119G>A (p.Gly40Asp) c.170G>A (p.Gly57Asp) c.149G>A (p.Gly50Asp) | dbSNP |
| 10 | g.79559366C>A | CA377353972 | SFTPA2 | c.118G>T (p.Gly40Cys) c.169G>T (p.Gly57Cys) c.148G>T (p.Gly50Cys) | |
| 10 | g.79559366C= | CA1922245525 | SFTPA2 | c.118G= (p.Gly40=) c.169G= (p.Gly57=) c.148G= (p.Gly50=) | |
| 10 | g.79559366C>G | CA5574206 | SFTPA2 | c.118G>C (p.Gly40Arg) c.169G>C (p.Gly57Arg) c.148G>C (p.Gly50Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79559366C>T | CA5574205 | SFTPA2 | c.118G>A (p.Gly40Ser) c.169G>A (p.Gly57Ser) c.148G>A (p.Gly50Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79559367G>A | CA5574207 | SFTPA2 | c.117C>T (p.His39=) c.168C>T (p.His56=) c.147C>T (p.His49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.79559367G>C | CA5574208 | SFTPA2 | c.117C>G (p.His39Gln) c.168C>G (p.His56Gln) c.147C>G (p.His49Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.79559367G= | CA1922245526 | SFTPA2 | c.117C= (p.His39=) c.168C= (p.His56=) c.147C= (p.His49=) | |
| 10 | g.79559367G>T | CA377353973 | SFTPA2 | c.117C>A (p.His39Gln) c.168C>A (p.His56Gln) c.147C>A (p.His49Gln) | |
| 10 | g.79559368T>A | CA377353975 | SFTPA2 | c.116A>T (p.His39Leu) c.167A>T (p.His56Leu) c.146A>T (p.His49Leu) | |
| 10 | g.79559368T>C | CA377353976 | SFTPA2 | c.116A>G (p.His39Arg) c.167A>G (p.His56Arg) c.146A>G (p.His49Arg) | |
| 10 | g.79559368T>G | CA377353974 | SFTPA2 | c.116A>C (p.His39Pro) c.167A>C (p.His56Pro) c.146A>C (p.His49Pro) | |
| 10 | g.79559369G>A | CA377353977 | SFTPA2 | c.115C>T (p.His39Tyr) c.166C>T (p.His56Tyr) c.145C>T (p.His49Tyr) | |
| 10 | g.79559369G>C | CA377353978 | SFTPA2 | c.115C>G (p.His39Asp) c.166C>G (p.His56Asp) c.145C>G (p.His49Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.79559369G= | CA1922245527 | SFTPA2 | c.115C= (p.His39=) c.166C= (p.His56=) c.145C= (p.His49=) | |
| 10 | g.79559369G>T | CA377353979 | SFTPA2 | c.115C>A (p.His39Asn) c.166C>A (p.His56Asn) c.145C>A (p.His49Asn) | |
| 10 | g.79559370G>A | CA470417525 | SFTPA2 | c.114C>T (p.Ser38=) c.165C>T (p.Ser55=) c.144C>T (p.Ser48=) | |
| 10 | g.79559370G>C | CA470417526 | SFTPA2 | c.114C>G (p.Ser38=) c.165C>G (p.Ser55=) c.144C>G (p.Ser48=) | |
| 10 | g.79559370G>T | CA470417527 | SFTPA2 | c.114C>A (p.Ser38=) c.165C>A (p.Ser55=) c.144C>A (p.Ser48=) |