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 |
|---|---|---|---|---|---|
| 6 | g.129427799_129427800del | CA2580075045 | LAMA2 | c.5913_5914del (p.Gln1972GlufsTer7) c.6177_6178del (p.Gln2060GlufsTer7) c.6183_6184del (p.Gln2062GlufsTer7) c.4308_4309del (p.Gln1437GlufsTer7) | ClinVar |
| 6 | g.129427800C>A | CA365623963 | LAMA2 | c.5914C>A (p.Gln1972Lys) c.6178C>A (p.Gln2060Lys) c.6184C>A (p.Gln2062Lys) c.4309C>A (p.Gln1437Lys) | |
| 6 | g.129427800C= | CA1663161627 | LAMA2 | c.5914C= (p.Gln1972=) c.6178C= (p.Gln2060=) c.6184C= (p.Gln2062=) c.4309C= (p.Gln1437=) | |
| 6 | g.129427800C>G | CA365623964 | LAMA2 | c.5914C>G (p.Gln1972Glu) c.6178C>G (p.Gln2060Glu) c.6184C>G (p.Gln2062Glu) c.4309C>G (p.Gln1437Glu) | |
| 6 | g.129427800C>T | CA220776 | LAMA2 | c.5914C>T (p.Gln1972Ter) c.6178C>T (p.Gln2060Ter) c.6184C>T (p.Gln2062Ter) c.4309C>T (p.Gln1437Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129427801A= | CA1663161636 | LAMA2 | c.5915A= (p.Gln1972=) c.6179A= (p.Gln2060=) c.6185A= (p.Gln2062=) c.4310A= (p.Gln1437=) | |
| 6 | g.129427801A>C | CA365623965 | LAMA2 | c.5915A>C (p.Gln1972Pro) c.6179A>C (p.Gln2060Pro) c.6185A>C (p.Gln2062Pro) c.4310A>C (p.Gln1437Pro) | |
| 6 | g.129427801A>G | CA365623966 | LAMA2 | c.5915A>G (p.Gln1972Arg) c.6179A>G (p.Gln2060Arg) c.6185A>G (p.Gln2062Arg) c.4310A>G (p.Gln1437Arg) | dbSNP |
| 6 | g.129427801A>T | CA365623967 | LAMA2 | c.5915A>T (p.Gln1972Leu) c.6179A>T (p.Gln2060Leu) c.6185A>T (p.Gln2062Leu) c.4310A>T (p.Gln1437Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129427802G>A | CA451930729 | LAMA2 | c.5916G>A (p.Gln1972=) c.6180G>A (p.Gln2060=) c.6186G>A (p.Gln2062=) c.4311G>A (p.Gln1437=) | |
| 6 | g.129427802G>C | CA365623968 | LAMA2 | c.5916G>C (p.Gln1972His) c.6180G>C (p.Gln2060His) c.6186G>C (p.Gln2062His) c.4311G>C (p.Gln1437His) | |
| 6 | g.129427802G>T | CA365623969 | LAMA2 | c.5916G>T (p.Gln1972His) c.6180G>T (p.Gln2060His) c.6186G>T (p.Gln2062His) c.4311G>T (p.Gln1437His) | |
| 6 | g.129427803A>C | CA365623970 | LAMA2 | c.5917A>C (p.Lys1973Gln) c.6181A>C (p.Lys2061Gln) c.6187A>C (p.Lys2063Gln) c.4312A>C (p.Lys1438Gln) | |
| 6 | g.129427803A>G | CA365623971 | LAMA2 | c.5917A>G (p.Lys1973Glu) c.6181A>G (p.Lys2061Glu) c.6187A>G (p.Lys2063Glu) c.4312A>G (p.Lys1438Glu) | |
| 6 | g.129427803A>T | CA365623972 | LAMA2 | c.5917A>T (p.Lys1973Ter) c.6181A>T (p.Lys2061Ter) c.6187A>T (p.Lys2063Ter) c.4312A>T (p.Lys1438Ter) | |
| 6 | g.129427804A>C | CA365623974 | LAMA2 | c.5918A>C (p.Lys1973Thr) c.6182A>C (p.Lys2061Thr) c.6188A>C (p.Lys2063Thr) c.4313A>C (p.Lys1438Thr) | |
| 6 | g.129427804A>G | CA365623975 | LAMA2 | c.5918A>G (p.Lys1973Arg) c.6182A>G (p.Lys2061Arg) c.6188A>G (p.Lys2063Arg) c.4313A>G (p.Lys1438Arg) | |
| 6 | g.129427804A>T | CA365623973 | LAMA2 | c.5918A>T (p.Lys1973Ile) c.6182A>T (p.Lys2061Ile) c.6188A>T (p.Lys2063Ile) c.4313A>T (p.Lys1438Ile) | |
| 6 | g.129427805A>C | CA365623976 | LAMA2 | c.5919A>C (p.Lys1973Asn) c.6183A>C (p.Lys2061Asn) c.6189A>C (p.Lys2063Asn) c.4314A>C (p.Lys1438Asn) | |
| 6 | g.129427805A>G | CA451930744 | LAMA2 | c.5919A>G (p.Lys1973=) c.6183A>G (p.Lys2061=) c.6189A>G (p.Lys2063=) c.4314A>G (p.Lys1438=) | gnomAD v4 |
| 6 | g.129427805A>T | CA365623977 | LAMA2 | c.5919A>T (p.Lys1973Asn) c.6183A>T (p.Lys2061Asn) c.6189A>T (p.Lys2063Asn) c.4314A>T (p.Lys1438Asn) | |
| 6 | g.129427806A>C | CA365623978 | LAMA2 | c.5920A>C (p.Ser1974Arg) c.6184A>C (p.Ser2062Arg) c.6190A>C (p.Ser2064Arg) c.4315A>C (p.Ser1439Arg) | |
| 6 | g.129427806A>G | CA365623979 | LAMA2 | c.5920A>G (p.Ser1974Gly) c.6184A>G (p.Ser2062Gly) c.6190A>G (p.Ser2064Gly) c.4315A>G (p.Ser1439Gly) | |
| 6 | g.129427806A>T | CA365623980 | LAMA2 | c.5920A>T (p.Ser1974Cys) c.6184A>T (p.Ser2062Cys) c.6190A>T (p.Ser2064Cys) c.4315A>T (p.Ser1439Cys) | gnomAD v4 |
| 6 | g.129427807G>A | CA365623981 | LAMA2 | c.5921G>A (p.Ser1974Asn) c.6185G>A (p.Ser2062Asn) c.6191G>A (p.Ser2064Asn) c.4316G>A (p.Ser1439Asn) | |
| 6 | g.129427807G>C | CA3994029 | LAMA2 | c.5921G>C (p.Ser1974Thr) c.6185G>C (p.Ser2062Thr) c.6191G>C (p.Ser2064Thr) c.4316G>C (p.Ser1439Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129427807G= | CA1663161648 | LAMA2 | c.5921G= (p.Ser1974=) c.6185G= (p.Ser2062=) c.6191G= (p.Ser2064=) c.4316G= (p.Ser1439=) | |
| 6 | g.129427807G>T | CA365623982 | LAMA2 | c.5921G>T (p.Ser1974Ile) c.6185G>T (p.Ser2062Ile) c.6191G>T (p.Ser2064Ile) c.4316G>T (p.Ser1439Ile) | gnomAD v4 |
| 6 | g.129427808C>A | CA365623983 | LAMA2 | c.5922C>A (p.Ser1974Arg) c.6186C>A (p.Ser2062Arg) c.6192C>A (p.Ser2064Arg) c.4317C>A (p.Ser1439Arg) | COSMIC |
| 6 | g.129427808C>G | CA365623984 | LAMA2 | c.5922C>G (p.Ser1974Arg) c.6186C>G (p.Ser2062Arg) c.6192C>G (p.Ser2064Arg) c.4317C>G (p.Ser1439Arg) | |
| 6 | g.129427808C>T | CA451930763 | LAMA2 | c.5922C>T (p.Ser1974=) c.6186C>T (p.Ser2062=) c.6192C>T (p.Ser2064=) c.4317C>T (p.Ser1439=) | |
| 6 | g.129427809T>A | CA365623985 | LAMA2 | c.5923T>A (p.Phe1975Ile) c.6187T>A (p.Phe2063Ile) c.6193T>A (p.Phe2065Ile) c.4318T>A (p.Phe1440Ile) | |
| 6 | g.129427809T>C | CA365623986 | LAMA2 | c.5923T>C (p.Phe1975Leu) c.6187T>C (p.Phe2063Leu) c.6193T>C (p.Phe2065Leu) c.4318T>C (p.Phe1440Leu) | |
| 6 | g.129427809T>G | CA3994030 | LAMA2 | c.5923T>G (p.Phe1975Val) c.6187T>G (p.Phe2063Val) c.6193T>G (p.Phe2065Val) c.4318T>G (p.Phe1440Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129427809T= | CA1663161652 | LAMA2 | c.5923T= (p.Phe1975=) c.6187T= (p.Phe2063=) c.6193T= (p.Phe2065=) c.4318T= (p.Phe1440=) | |
| 6 | g.129427810T>A | CA365623989 | LAMA2 | c.5924T>A (p.Phe1975Tyr) c.6188T>A (p.Phe2063Tyr) c.6194T>A (p.Phe2065Tyr) c.4319T>A (p.Phe1440Tyr) | |
| 6 | g.129427810T>C | CA365623988 | LAMA2 | c.5924T>C (p.Phe1975Ser) c.6188T>C (p.Phe2063Ser) c.6194T>C (p.Phe2065Ser) c.4319T>C (p.Phe1440Ser) | |
| 6 | g.129427810T>G | CA365623987 | LAMA2 | c.5924T>G (p.Phe1975Cys) c.6188T>G (p.Phe2063Cys) c.6194T>G (p.Phe2065Cys) c.4319T>G (p.Phe1440Cys) | |
| 6 | g.129427811C>A | CA365623990 | LAMA2 | c.5925C>A (p.Phe1975Leu) c.6189C>A (p.Phe2063Leu) c.6195C>A (p.Phe2065Leu) c.4320C>A (p.Phe1440Leu) | |
| 6 | g.129427811C= | CA1663161659 | LAMA2 | c.5925C= (p.Phe1975=) c.6189C= (p.Phe2063=) c.6195C= (p.Phe2065=) c.4320C= (p.Phe1440=) | |
| 6 | g.129427811C>G | CA365623991 | LAMA2 | c.5925C>G (p.Phe1975Leu) c.6189C>G (p.Phe2063Leu) c.6195C>G (p.Phe2065Leu) c.4320C>G (p.Phe1440Leu) | |
| 6 | g.129427811C>T | CA451930771 | LAMA2 | c.5925C>T (p.Phe1975=) c.6189C>T (p.Phe2063=) c.6195C>T (p.Phe2065=) c.4320C>T (p.Phe1440=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129427812A= | CA1663161662 | LAMA2 | c.5926A= (p.Arg1976=) c.6190A= (p.Arg2064=) c.6196A= (p.Arg2066=) c.4321A= (p.Arg1441=) | |
| 6 | g.129427812A>C | CA451930776 | LAMA2 | c.5926A>C (p.Arg1976=) c.6190A>C (p.Arg2064=) c.6196A>C (p.Arg2066=) c.4321A>C (p.Arg1441=) | |
| 6 | g.129427812A>G | CA365623992 | LAMA2 | c.5926A>G (p.Arg1976Gly) c.6190A>G (p.Arg2064Gly) c.6196A>G (p.Arg2066Gly) c.4321A>G (p.Arg1441Gly) | |
| 6 | g.129427812A>T | CA3994031 | LAMA2 | c.5926A>T (p.Arg1976Trp) c.6190A>T (p.Arg2064Trp) c.6196A>T (p.Arg2066Trp) c.4321A>T (p.Arg1441Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129427813G>A | CA365623993 | LAMA2 | c.5927G>A (p.Arg1976Lys) c.6191G>A (p.Arg2064Lys) c.6197G>A (p.Arg2066Lys) c.4322G>A (p.Arg1441Lys) | |
| 6 | g.129427813G>C | CA365623994 | LAMA2 | c.5927G>C (p.Arg1976Thr) c.6191G>C (p.Arg2064Thr) c.6197G>C (p.Arg2066Thr) c.4322G>C (p.Arg1441Thr) | |
| 6 | g.129427813G>T | CA365623995 | LAMA2 | c.5927G>T (p.Arg1976Met) c.6191G>T (p.Arg2064Met) c.6197G>T (p.Arg2066Met) c.4322G>T (p.Arg1441Met) | |
| 6 | g.129427814G>A | CA451930784 | LAMA2 | c.5928G>A (p.Arg1976=) c.6192G>A (p.Arg2064=) c.6198G>A (p.Arg2066=) c.4323G>A (p.Arg1441=) | ClinVar dbSNP |