WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60841718_60841719delinsCTT | CA2695209727 | CHD7 | c.4608_4609delinsCTT (p.Lys1536AsnfsTer4) c.1717-20511_1717-20510delinsCTT (n.1717-20511_1717-20510delinsCTT) c.2595_2596delinsCTT (p.Lys865AsnfsTer4) c.2145_2146delinsCTT (p.Lys715AsnfsTer4) c.1353_1354delinsCTT (p.Lys451AsnfsTer4) | |
| 8 | g.60841719A= | CA1788122435 | CHD7 | c.4609A= (p.Lys1537=) c.1717-20510A= (n.1717-20510A=) c.2596A= (p.Lys866=) c.2146A= (p.Lys716=) c.1354A= (p.Lys452=) | |
| 8 | g.60841719A>C | CA371318727 | CHD7 | c.4609A>C (p.Lys1537Gln) c.1717-20510A>C (n.1717-20510A>C) c.2596A>C (p.Lys866Gln) c.2146A>C (p.Lys716Gln) c.1354A>C (p.Lys452Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841719A>G | CA371318729 | CHD7 | c.4609A>G (p.Lys1537Glu) c.1717-20510A>G (n.1717-20510A>G) c.2596A>G (p.Lys866Glu) c.2146A>G (p.Lys716Glu) c.1354A>G (p.Lys452Glu) | |
| 8 | g.60841719A>T | CA16605402 | CHD7 | c.4609A>T (p.Lys1537Ter) c.1717-20510A>T (n.1717-20510A>T) c.2596A>T (p.Lys866Ter) c.2146A>T (p.Lys716Ter) c.1354A>T (p.Lys452Ter) | ClinVar dbSNP |
| 8 | g.60841720A>C | CA371318730 | CHD7 | c.4610A>C (p.Lys1537Thr) c.1717-20509A>C (n.1717-20509A>C) c.2597A>C (p.Lys866Thr) c.2147A>C (p.Lys716Thr) c.1355A>C (p.Lys452Thr) | |
| 8 | g.60841720A>G | CA371318732 | CHD7 | c.4610A>G (p.Lys1537Arg) c.1717-20509A>G (n.1717-20509A>G) c.2597A>G (p.Lys866Arg) c.2147A>G (p.Lys716Arg) c.1355A>G (p.Lys452Arg) | |
| 8 | g.60841720A>T | CA371318733 | CHD7 | c.4610A>T (p.Lys1537Met) c.1717-20509A>T (n.1717-20509A>T) c.2597A>T (p.Lys866Met) c.2147A>T (p.Lys716Met) c.1355A>T (p.Lys452Met) | |
| 8 | g.60841721G>A | CA460848064 | CHD7 | c.4611G>A (p.Lys1537=) c.1717-20508G>A (n.1717-20508G>A) c.2598G>A (p.Lys866=) c.2148G>A (p.Lys716=) c.1356G>A (p.Lys452=) | |
| 8 | g.60841721G>C | CA371318735 | CHD7 | c.4611G>C (p.Lys1537Asn) c.1717-20508G>C (n.1717-20508G>C) c.2598G>C (p.Lys866Asn) c.2148G>C (p.Lys716Asn) c.1356G>C (p.Lys452Asn) | |
| 8 | g.60841721G>T | CA371318737 | CHD7 | c.4611G>T (p.Lys1537Asn) c.1717-20508G>T (n.1717-20508G>T) c.2598G>T (p.Lys866Asn) c.2148G>T (p.Lys716Asn) c.1356G>T (p.Lys452Asn) | |
| 8 | g.60841722G>A | CA371318738 | CHD7 | c.4612G>A (p.Ala1538Thr) c.1717-20507G>A (n.1717-20507G>A) c.2599G>A (p.Ala867Thr) c.2149G>A (p.Ala717Thr) c.1357G>A (p.Ala453Thr) | |
| 8 | g.60841722G>C | CA371318739 | CHD7 | c.4612G>C (p.Ala1538Pro) c.1717-20507G>C (n.1717-20507G>C) c.2599G>C (p.Ala867Pro) c.2149G>C (p.Ala717Pro) c.1357G>C (p.Ala453Pro) | |
| 8 | g.60841722G= | CA1788122446 | CHD7 | c.4612G= (p.Ala1538=) c.1717-20507G= (n.1717-20507G=) c.2599G= (p.Ala867=) c.2149G= (p.Ala717=) c.1357G= (p.Ala453=) | |
| 8 | g.60841722G>T | CA371318741 | CHD7 | c.4612G>T (p.Ala1538Ser) c.1717-20507G>T (n.1717-20507G>T) c.2599G>T (p.Ala867Ser) c.2149G>T (p.Ala717Ser) c.1357G>T (p.Ala453Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841723C>A | CA371318743 | CHD7 | c.4613C>A (p.Ala1538Asp) c.1717-20506C>A (n.1717-20506C>A) c.2600C>A (p.Ala867Asp) c.2150C>A (p.Ala717Asp) c.1358C>A (p.Ala453Asp) | |
| 8 | g.60841723C>G | CA371318746 | CHD7 | c.4613C>G (p.Ala1538Gly) c.1717-20506C>G (n.1717-20506C>G) c.2600C>G (p.Ala867Gly) c.2150C>G (p.Ala717Gly) c.1358C>G (p.Ala453Gly) | ClinVar |
| 8 | g.60841723C>T | CA371318745 | CHD7 | c.4613C>T (p.Ala1538Val) c.1717-20506C>T (n.1717-20506C>T) c.2600C>T (p.Ala867Val) c.2150C>T (p.Ala717Val) c.1358C>T (p.Ala453Val) | |
| 8 | g.60841724T>A | CA460848067 | CHD7 | c.4614T>A (p.Ala1538=) c.1717-20505T>A (n.1717-20505T>A) c.2601T>A (p.Ala867=) c.2151T>A (p.Ala717=) c.1359T>A (p.Ala453=) | |
| 8 | g.60841724T>C | CA460848068 | CHD7 | c.4614T>C (p.Ala1538=) c.1717-20505T>C (n.1717-20505T>C) c.2601T>C (p.Ala867=) c.2151T>C (p.Ala717=) c.1359T>C (p.Ala453=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60841724T>G | CA460848069 | CHD7 | c.4614T>G (p.Ala1538=) c.1717-20505T>G (n.1717-20505T>G) c.2601T>G (p.Ala867=) c.2151T>G (p.Ala717=) c.1359T>G (p.Ala453=) | |
| 8 | g.60841725G>A | CA371318747 | CHD7 | c.4615G>A (p.Glu1539Lys) c.1717-20504G>A (n.1717-20504G>A) c.2602G>A (p.Glu868Lys) c.2152G>A (p.Glu718Lys) c.1360G>A (p.Glu454Lys) | |
| 8 | g.60841725G>C | CA371318748 | CHD7 | c.4615G>C (p.Glu1539Gln) c.1717-20504G>C (n.1717-20504G>C) c.2602G>C (p.Glu868Gln) c.2152G>C (p.Glu718Gln) c.1360G>C (p.Glu454Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841725G= | CA1788122450 | CHD7 | c.4615G= (p.Glu1539=) c.1717-20504G= (n.1717-20504G=) c.2602G= (p.Glu868=) c.2152G= (p.Glu718=) c.1360G= (p.Glu454=) | |
| 8 | g.60841725G>T | CA371318750 | CHD7 | c.4615G>T (p.Glu1539Ter) c.1717-20504G>T (n.1717-20504G>T) c.2602G>T (p.Glu868Ter) c.2152G>T (p.Glu718Ter) c.1360G>T (p.Glu454Ter) | |
| 8 | g.60841726A>C | CA371318752 | CHD7 | c.4616A>C (p.Glu1539Ala) c.1717-20503A>C (n.1717-20503A>C) c.2603A>C (p.Glu868Ala) c.2153A>C (p.Glu718Ala) c.1361A>C (p.Glu454Ala) | |
| 8 | g.60841726A>G | CA371318753 | CHD7 | c.4616A>G (p.Glu1539Gly) c.1717-20503A>G (n.1717-20503A>G) c.2603A>G (p.Glu868Gly) c.2153A>G (p.Glu718Gly) c.1361A>G (p.Glu454Gly) | |
| 8 | g.60841726A>T | CA371318754 | CHD7 | c.4616A>T (p.Glu1539Val) c.1717-20503A>T (n.1717-20503A>T) c.2603A>T (p.Glu868Val) c.2153A>T (p.Glu718Val) c.1361A>T (p.Glu454Val) | |
| 8 | g.60841727A>C | CA371318756 | CHD7 | c.4617A>C (p.Glu1539Asp) c.1717-20502A>C (n.1717-20502A>C) c.2604A>C (p.Glu868Asp) c.2154A>C (p.Glu718Asp) c.1362A>C (p.Glu454Asp) | |
| 8 | g.60841727A>G | CA460848071 | CHD7 | c.4617A>G (p.Glu1539=) c.1717-20502A>G (n.1717-20502A>G) c.2604A>G (p.Glu868=) c.2154A>G (p.Glu718=) c.1362A>G (p.Glu454=) | |
| 8 | g.60841727A>T | CA371318758 | CHD7 | c.4617A>T (p.Glu1539Asp) c.1717-20502A>T (n.1717-20502A>T) c.2604A>T (p.Glu868Asp) c.2154A>T (p.Glu718Asp) c.1362A>T (p.Glu454Asp) | |
| 8 | g.60841728T>A | CA371318759 | CHD7 | c.4618T>A (p.Leu1540Met) c.1717-20501T>A (n.1717-20501T>A) c.2605T>A (p.Leu869Met) c.2155T>A (p.Leu719Met) c.1363T>A (p.Leu455Met) | gnomAD v4 |
| 8 | g.60841728T>C | CA460848072 | CHD7 | c.4618T>C (p.Leu1540=) c.1717-20501T>C (n.1717-20501T>C) c.2605T>C (p.Leu869=) c.2155T>C (p.Leu719=) c.1363T>C (p.Leu455=) | |
| 8 | g.60841728T>G | CA371318761 | CHD7 | c.4618T>G (p.Leu1540Val) c.1717-20501T>G (n.1717-20501T>G) c.2605T>G (p.Leu869Val) c.2155T>G (p.Leu719Val) c.1363T>G (p.Leu455Val) | |
| 8 | g.60841729T>A | CA371318766 | CHD7 | c.4619T>A (p.Leu1540Ter) c.1717-20500T>A (n.1717-20500T>A) c.2606T>A (p.Leu869Ter) c.2156T>A (p.Leu719Ter) c.1364T>A (p.Leu455Ter) | |
| 8 | g.60841729T>C | CA371318764 | CHD7 | c.4619T>C (p.Leu1540Ser) c.1717-20500T>C (n.1717-20500T>C) c.2606T>C (p.Leu869Ser) c.2156T>C (p.Leu719Ser) c.1364T>C (p.Leu455Ser) | |
| 8 | g.60841729T>G | CA371318762 | CHD7 | c.4619T>G (p.Leu1540Trp) c.1717-20500T>G (n.1717-20500T>G) c.2606T>G (p.Leu869Trp) c.2156T>G (p.Leu719Trp) c.1364T>G (p.Leu455Trp) | |
| 8 | g.60841730G>A | CA460848074 | CHD7 | c.4620G>A (p.Leu1540=) c.1717-20499G>A (n.1717-20499G>A) c.2607G>A (p.Leu869=) c.2157G>A (p.Leu719=) c.1365G>A (p.Leu455=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841730G>C | CA371318767 | CHD7 | c.4620G>C (p.Leu1540Phe) c.1717-20499G>C (n.1717-20499G>C) c.2607G>C (p.Leu869Phe) c.2157G>C (p.Leu719Phe) c.1365G>C (p.Leu455Phe) | |
| 8 | g.60841730G= | CA1788122456 | CHD7 | c.4620G= (p.Leu1540=) c.1717-20499G= (n.1717-20499G=) c.2607G= (p.Leu869=) c.2157G= (p.Leu719=) c.1365G= (p.Leu455=) | |
| 8 | g.60841730G>T | CA371318768 | CHD7 | c.4620G>T (p.Leu1540Phe) c.1717-20499G>T (n.1717-20499G>T) c.2607G>T (p.Leu869Phe) c.2157G>T (p.Leu719Phe) c.1365G>T (p.Leu455Phe) | |
| 8 | g.60841731G>A | CA4760151 | CHD7 | c.4621G>A (p.Asp1541Asn) c.1717-20498G>A (n.1717-20498G>A) c.2608G>A (p.Asp870Asn) c.2158G>A (p.Asp720Asn) c.1366G>A (p.Asp456Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841731G>C | CA371318770 | CHD7 | c.4621G>C (p.Asp1541His) c.1717-20498G>C (n.1717-20498G>C) c.2608G>C (p.Asp870His) c.2158G>C (p.Asp720His) c.1366G>C (p.Asp456His) | |
| 8 | g.60841731G= | CA1788122462 | CHD7 | c.4621G= (p.Asp1541=) c.1717-20498G= (n.1717-20498G=) c.2608G= (p.Asp870=) c.2158G= (p.Asp720=) c.1366G= (p.Asp456=) | |
| 8 | g.60841731G>T | CA371318772 | CHD7 | c.4621G>T (p.Asp1541Tyr) c.1717-20498G>T (n.1717-20498G>T) c.2608G>T (p.Asp870Tyr) c.2158G>T (p.Asp720Tyr) c.1366G>T (p.Asp456Tyr) | |
| 8 | g.60841732A>C | CA371318776 | CHD7 | c.4622A>C (p.Asp1541Ala) c.1717-20497A>C (n.1717-20497A>C) c.2609A>C (p.Asp870Ala) c.2159A>C (p.Asp720Ala) c.1367A>C (p.Asp456Ala) | |
| 8 | g.60841732A>G | CA371318775 | CHD7 | c.4622A>G (p.Asp1541Gly) c.1717-20497A>G (n.1717-20497A>G) c.2609A>G (p.Asp870Gly) c.2159A>G (p.Asp720Gly) c.1367A>G (p.Asp456Gly) | gnomAD v4 |
| 8 | g.60841732A>T | CA371318774 | CHD7 | c.4622A>T (p.Asp1541Val) c.1717-20497A>T (n.1717-20497A>T) c.2609A>T (p.Asp870Val) c.2159A>T (p.Asp720Val) c.1367A>T (p.Asp456Val) | gnomAD v4 |
| 8 | g.60841733T>A | CA371318778 | CHD7 | c.4623T>A (p.Asp1541Glu) c.1717-20496T>A (n.1717-20496T>A) c.2610T>A (p.Asp870Glu) c.2160T>A (p.Asp720Glu) c.1368T>A (p.Asp456Glu) | |
| 8 | g.60841733T>C | CA4760152 | CHD7 | c.4623T>C (p.Asp1541=) c.1717-20496T>C (n.1717-20496T>C) c.2610T>C (p.Asp870=) c.2160T>C (p.Asp720=) c.1368T>C (p.Asp456=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |