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 |
|---|---|---|---|---|---|
| 8 | g.60830373_60830380delinsGAGGATGT | CA1788100895 | CHD7 | c.3574_3581delinsGAGGATGT (p.Glu1192=) c.1717-31856_1717-31849delinsGAGGATGT (n.1717-31856_1717-31849delinsGAGGATGT) c.1561_1568delinsGAGGATGT (p.Glu521=) c.1111_1118delinsGAGGATGT (p.Glu371=) c.319_326delinsGAGGATGT (p.Glu107=) | |
| 8 | g.60830376_60830382del | CA915945696 | CHD7 | c.3577_3583del (p.Asp1193LysfsTer16) c.1717-31853_1717-31847del (n.1717-31853_1717-31847del) c.1564_1570del (p.Asp522LysfsTer16) c.1114_1120del (p.Asp372LysfsTer16) c.322_328del (p.Asp108LysfsTer16) | ClinVar dbSNP |
| 8 | g.60830377A>C | CA371315064 | CHD7 | c.3578A>C (p.Asp1193Ala) c.1717-31852A>C (n.1717-31852A>C) c.1565A>C (p.Asp522Ala) c.1115A>C (p.Asp372Ala) c.323A>C (p.Asp108Ala) | |
| 8 | g.60830377A>G | CA371315067 | CHD7 | c.3578A>G (p.Asp1193Gly) c.1717-31852A>G (n.1717-31852A>G) c.1565A>G (p.Asp522Gly) c.1115A>G (p.Asp372Gly) c.323A>G (p.Asp108Gly) | |
| 8 | g.60830377A>T | CA371315068 | CHD7 | c.3578A>T (p.Asp1193Val) c.1717-31852A>T (n.1717-31852A>T) c.1565A>T (p.Asp522Val) c.1115A>T (p.Asp372Val) c.323A>T (p.Asp108Val) | gnomAD v4 |
| 8 | g.60830378T>A | CA371315070 | CHD7 | c.3579T>A (p.Asp1193Glu) c.1717-31851T>A (n.1717-31851T>A) c.1566T>A (p.Asp522Glu) c.1116T>A (p.Asp372Glu) c.324T>A (p.Asp108Glu) | |
| 8 | g.60830378T>C | CA177340173 | CHD7 | c.3579T>C (p.Asp1193=) c.1717-31851T>C (n.1717-31851T>C) c.1566T>C (p.Asp522=) c.1116T>C (p.Asp372=) c.324T>C (p.Asp108=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60830378T>G | CA371315073 | CHD7 | c.3579T>G (p.Asp1193Glu) c.1717-31851T>G (n.1717-31851T>G) c.1566T>G (p.Asp522Glu) c.1116T>G (p.Asp372Glu) c.324T>G (p.Asp108Glu) | |
| 8 | g.60830378T= | CA1788100916 | CHD7 | c.3579T= (p.Asp1193=) c.1717-31851T= (n.1717-31851T=) c.1566T= (p.Asp522=) c.1116T= (p.Asp372=) c.324T= (p.Asp108=) | |
| 8 | g.60830379G>A | CA4759988 | CHD7 | c.3580G>A (p.Val1194Ile) c.1717-31850G>A (n.1717-31850G>A) c.1567G>A (p.Val523Ile) c.1117G>A (p.Val373Ile) c.325G>A (p.Val109Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60830379G>C | CA371315078 | CHD7 | c.3580G>C (p.Val1194Leu) c.1717-31850G>C (n.1717-31850G>C) c.1567G>C (p.Val523Leu) c.1117G>C (p.Val373Leu) c.325G>C (p.Val109Leu) | |
| 8 | g.60830379G= | CA1788100937 | CHD7 | c.3580G= (p.Val1194=) c.1717-31850G= (n.1717-31850G=) c.1567G= (p.Val523=) c.1117G= (p.Val373=) c.325G= (p.Val109=) | |
| 8 | g.60830379G>T | CA371315081 | CHD7 | c.3580G>T (p.Val1194Leu) c.1717-31850G>T (n.1717-31850G>T) c.1567G>T (p.Val523Leu) c.1117G>T (p.Val373Leu) c.325G>T (p.Val109Leu) | |
| 8 | g.60830380T>A | CA371315084 | CHD7 | c.3581T>A (p.Val1194Glu) c.1717-31849T>A (n.1717-31849T>A) c.1568T>A (p.Val523Glu) c.1118T>A (p.Val373Glu) c.326T>A (p.Val109Glu) | dbSNP |
| 8 | g.60830380T>C | CA371315086 | CHD7 | c.3581T>C (p.Val1194Ala) c.1717-31849T>C (n.1717-31849T>C) c.1568T>C (p.Val523Ala) c.1118T>C (p.Val373Ala) c.326T>C (p.Val109Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60830380T>G | CA371315089 | CHD7 | c.3581T>G (p.Val1194Gly) c.1717-31849T>G (n.1717-31849T>G) c.1568T>G (p.Val523Gly) c.1118T>G (p.Val373Gly) c.326T>G (p.Val109Gly) | |
| 8 | g.60830380T= | CA1788100943 | CHD7 | c.3581T= (p.Val1194=) c.1717-31849T= (n.1717-31849T=) c.1568T= (p.Val523=) c.1118T= (p.Val373=) c.326T= (p.Val109=) | |
| 8 | g.60830381A>C | CA461104580 | CHD7 | c.3582A>C (p.Val1194=) c.1717-31848A>C (n.1717-31848A>C) c.1569A>C (p.Val523=) c.1119A>C (p.Val373=) c.327A>C (p.Val109=) | |
| 8 | g.60830381A>G | CA461104583 | CHD7 | c.3582A>G (p.Val1194=) c.1717-31848A>G (n.1717-31848A>G) c.1569A>G (p.Val523=) c.1119A>G (p.Val373=) c.327A>G (p.Val109=) | gnomAD v4 |
| 8 | g.60830381A>T | CA461104584 | CHD7 | c.3582A>T (p.Val1194=) c.1717-31848A>T (n.1717-31848A>T) c.1569A>T (p.Val523=) c.1119A>T (p.Val373=) c.327A>T (p.Val109=) | |
| 8 | g.60830382G>A | CA371315092 | CHD7 | c.3583G>A (p.Glu1195Lys) c.1717-31847G>A (n.1717-31847G>A) c.1570G>A (p.Glu524Lys) c.1120G>A (p.Glu374Lys) c.328G>A (p.Glu110Lys) | |
| 8 | g.60830382G>C | CA371315094 | CHD7 | c.3583G>C (p.Glu1195Gln) c.1717-31847G>C (n.1717-31847G>C) c.1570G>C (p.Glu524Gln) c.1120G>C (p.Glu374Gln) c.328G>C (p.Glu110Gln) | |
| 8 | g.60830382G>T | CA371315096 | CHD7 | c.3583G>T (p.Glu1195Ter) c.1717-31847G>T (n.1717-31847G>T) c.1570G>T (p.Glu524Ter) c.1120G>T (p.Glu374Ter) c.328G>T (p.Glu110Ter) | COSMIC |
| 8 | g.60830383A>C | CA371315100 | CHD7 | c.3584A>C (p.Glu1195Ala) c.1717-31846A>C (n.1717-31846A>C) c.1571A>C (p.Glu524Ala) c.1121A>C (p.Glu374Ala) c.329A>C (p.Glu110Ala) | |
| 8 | g.60830383A>G | CA371315103 | CHD7 | c.3584A>G (p.Glu1195Gly) c.1717-31846A>G (n.1717-31846A>G) c.1571A>G (p.Glu524Gly) c.1121A>G (p.Glu374Gly) c.329A>G (p.Glu110Gly) | |
| 8 | g.60830383A>T | CA371315098 | CHD7 | c.3584A>T (p.Glu1195Val) c.1717-31846A>T (n.1717-31846A>T) c.1571A>T (p.Glu524Val) c.1121A>T (p.Glu374Val) c.329A>T (p.Glu110Val) | |
| 8 | g.60830384A>C | CA371315105 | CHD7 | c.3585A>C (p.Glu1195Asp) c.1717-31845A>C (n.1717-31845A>C) c.1572A>C (p.Glu524Asp) c.1122A>C (p.Glu374Asp) c.330A>C (p.Glu110Asp) | |
| 8 | g.60830384A>G | CA461104590 | CHD7 | c.3585A>G (p.Glu1195=) c.1717-31845A>G (n.1717-31845A>G) c.1572A>G (p.Glu524=) c.1122A>G (p.Glu374=) c.330A>G (p.Glu110=) | |
| 8 | g.60830384A>T | CA371315107 | CHD7 | c.3585A>T (p.Glu1195Asp) c.1717-31845A>T (n.1717-31845A>T) c.1572A>T (p.Glu524Asp) c.1122A>T (p.Glu374Asp) c.330A>T (p.Glu110Asp) | |
| 8 | g.60830385A>C | CA371315109 | CHD7 | c.3586A>C (p.Lys1196Gln) c.1717-31844A>C (n.1717-31844A>C) c.1573A>C (p.Lys525Gln) c.1123A>C (p.Lys375Gln) c.331A>C (p.Lys111Gln) | |
| 8 | g.60830385A>G | CA371315111 | CHD7 | c.3586A>G (p.Lys1196Glu) c.1717-31844A>G (n.1717-31844A>G) c.1573A>G (p.Lys525Glu) c.1123A>G (p.Lys375Glu) c.331A>G (p.Lys111Glu) | |
| 8 | g.60830385A>T | CA371315113 | CHD7 | c.3586A>T (p.Lys1196Ter) c.1717-31844A>T (n.1717-31844A>T) c.1573A>T (p.Lys525Ter) c.1123A>T (p.Lys375Ter) c.331A>T (p.Lys111Ter) | |
| 8 | g.60830386A>C | CA371315116 | CHD7 | c.3587A>C (p.Lys1196Thr) c.1717-31843A>C (n.1717-31843A>C) c.1574A>C (p.Lys525Thr) c.1124A>C (p.Lys375Thr) c.332A>C (p.Lys111Thr) | |
| 8 | g.60830386A>G | CA371315119 | CHD7 | c.3587A>G (p.Lys1196Arg) c.1717-31843A>G (n.1717-31843A>G) c.1574A>G (p.Lys525Arg) c.1124A>G (p.Lys375Arg) c.332A>G (p.Lys111Arg) | |
| 8 | g.60830386A>T | CA371315120 | CHD7 | c.3587A>T (p.Lys1196Met) c.1717-31843A>T (n.1717-31843A>T) c.1574A>T (p.Lys525Met) c.1124A>T (p.Lys375Met) c.332A>T (p.Lys111Met) | |
| 8 | g.60830387G>A | CA461104599 | CHD7 | c.3588G>A (p.Lys1196=) c.1717-31842G>A (n.1717-31842G>A) c.1575G>A (p.Lys525=) c.1125G>A (p.Lys375=) c.333G>A (p.Lys111=) | |
| 8 | g.60830387G>C | CA371315121 | CHD7 | c.3588G>C (p.Lys1196Asn) c.1717-31842G>C (n.1717-31842G>C) c.1575G>C (p.Lys525Asn) c.1125G>C (p.Lys375Asn) c.333G>C (p.Lys111Asn) | |
| 8 | g.60830387G>T | CA371315122 | CHD7 | c.3588G>T (p.Lys1196Asn) c.1717-31842G>T (n.1717-31842G>T) c.1575G>T (p.Lys525Asn) c.1125G>T (p.Lys375Asn) c.333G>T (p.Lys111Asn) | COSMIC |
| 8 | g.60830388A>C | CA371315124 | CHD7 | c.3589A>C (p.Asn1197His) c.1717-31841A>C (n.1717-31841A>C) c.1576A>C (p.Asn526His) c.1126A>C (p.Asn376His) c.334A>C (p.Asn112His) | |
| 8 | g.60830388A>G | CA371315125 | CHD7 | c.3589A>G (p.Asn1197Asp) c.1717-31841A>G (n.1717-31841A>G) c.1576A>G (p.Asn526Asp) c.1126A>G (p.Asn376Asp) c.334A>G (p.Asn112Asp) | |
| 8 | g.60830388A>T | CA371315127 | CHD7 | c.3589A>T (p.Asn1197Tyr) c.1717-31841A>T (n.1717-31841A>T) c.1576A>T (p.Asn526Tyr) c.1126A>T (p.Asn376Tyr) c.334A>T (p.Asn112Tyr) | |
| 8 | g.60830389A= | CA1788100951 | CHD7 | c.3590A= (p.Asn1197=) c.1717-31840A= (n.1717-31840A=) c.1577A= (p.Asn526=) c.1127A= (p.Asn376=) c.335A= (p.Asn112=) | |
| 8 | g.60830389A>C | CA371315131 | CHD7 | c.3590A>C (p.Asn1197Thr) c.1717-31840A>C (n.1717-31840A>C) c.1577A>C (p.Asn526Thr) c.1127A>C (p.Asn376Thr) c.335A>C (p.Asn112Thr) | |
| 8 | g.60830389A>G | CA371315129 | CHD7 | c.3590A>G (p.Asn1197Ser) c.1717-31840A>G (n.1717-31840A>G) c.1577A>G (p.Asn526Ser) c.1127A>G (p.Asn376Ser) c.335A>G (p.Asn112Ser) | gnomAD v4 |
| 8 | g.60830389A>T | CA177340176 | CHD7 | c.3590A>T (p.Asn1197Ile) c.1717-31840A>T (n.1717-31840A>T) c.1577A>T (p.Asn526Ile) c.1127A>T (p.Asn376Ile) c.335A>T (p.Asn112Ile) | dbSNP |
| 8 | g.60830390C>A | CA371315132 | CHD7 | c.3591C>A (p.Asn1197Lys) c.1717-31839C>A (n.1717-31839C>A) c.1578C>A (p.Asn526Lys) c.1128C>A (p.Asn376Lys) c.336C>A (p.Asn112Lys) | |
| 8 | g.60830390C= | CA1788100955 | CHD7 | c.3591C= (p.Asn1197=) c.1717-31839C= (n.1717-31839C=) c.1578C= (p.Asn526=) c.1128C= (p.Asn376=) c.336C= (p.Asn112=) | |
| 8 | g.60830390C>G | CA4759989 | CHD7 | c.3591C>G (p.Asn1197Lys) c.1717-31839C>G (n.1717-31839C>G) c.1578C>G (p.Asn526Lys) c.1128C>G (p.Asn376Lys) c.336C>G (p.Asn112Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60830390C>T | CA461104615 | CHD7 | c.3591C>T (p.Asn1197=) c.1717-31839C>T (n.1717-31839C>T) c.1578C>T (p.Asn526=) c.1128C>T (p.Asn376=) c.336C>T (p.Asn112=) | ClinVar |
| 8 | g.60830391T>A | CA371315137 | CHD7 | c.3592T>A (p.Leu1198Met) c.1717-31838T>A (n.1717-31838T>A) c.1579T>A (p.Leu527Met) c.1129T>A (p.Leu377Met) c.337T>A (p.Leu113Met) |