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.129427749_129427754del | CA2578737524 | LAMA2 | c.5866-3_5868del c.6130-3_6132del c.6136-3_6138del c.4261-3_4263del | |
| 6 | g.129427751G>A | CA16618242 | LAMA2 | c.5866-1G>A (n.5866-1G>A) c.6130-1G>A (n.6130-1G>A) c.6136-1G>A (n.6136-1G>A) c.4261-1G>A (n.4261-1G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129427751G>C | CA365623863 | LAMA2 | c.5866-1G>C (n.5866-1G>C) c.6130-1G>C (n.6130-1G>C) c.6136-1G>C (n.6136-1G>C) c.4261-1G>C (n.4261-1G>C) | |
| 6 | g.129427751G= | CA1663161490 | LAMA2 | c.5866-1G= (n.5866-1G=) c.6130-1G= (n.6130-1G=) c.6136-1G= (n.6136-1G=) c.4261-1G= (n.4261-1G=) | |
| 6 | g.129427751G>T | CA365623864 | LAMA2 | c.5866-1G>T (n.5866-1G>T) c.6130-1G>T (n.6130-1G>T) c.6136-1G>T (n.6136-1G>T) c.4261-1G>T (n.4261-1G>T) | |
| 6 | g.129427752G>A | CA365623865 | LAMA2 | c.5866G>A (p.Ala1956Thr) c.6130G>A (p.Ala2044Thr) c.6136G>A (p.Ala2046Thr) c.4261G>A (p.Ala1421Thr) | gnomAD v4 |
| 6 | g.129427752G>C | CA365623866 | LAMA2 | c.5866G>C (p.Ala1956Pro) c.6130G>C (p.Ala2044Pro) c.6136G>C (p.Ala2046Pro) c.4261G>C (p.Ala1421Pro) | |
| 6 | g.129427752G>T | CA365623867 | LAMA2 | c.5866G>T (p.Ala1956Ser) c.6130G>T (p.Ala2044Ser) c.6136G>T (p.Ala2046Ser) c.4261G>T (p.Ala1421Ser) | ClinVar dbSNP |
| 6 | g.129427753C>A | CA365623868 | LAMA2 | c.5867C>A (p.Ala1956Glu) c.6131C>A (p.Ala2044Glu) c.6137C>A (p.Ala2046Glu) c.4262C>A (p.Ala1421Glu) | gnomAD v4 |
| 6 | g.129427753C= | CA1663161497 | LAMA2 | c.5867C= (p.Ala1956=) c.6131C= (p.Ala2044=) c.6137C= (p.Ala2046=) c.4262C= (p.Ala1421=) | |
| 6 | g.129427753C>G | CA365623869 | LAMA2 | c.5867C>G (p.Ala1956Gly) c.6131C>G (p.Ala2044Gly) c.6137C>G (p.Ala2046Gly) c.4262C>G (p.Ala1421Gly) | |
| 6 | g.129427753C>T | CA365623870 | LAMA2 | c.5867C>T (p.Ala1956Val) c.6131C>T (p.Ala2044Val) c.6137C>T (p.Ala2046Val) c.4262C>T (p.Ala1421Val) | dbSNP gnomAD v4 |
| 6 | g.129427754A>C | CA451930395 | LAMA2 | c.5868A>C (p.Ala1956=) c.6132A>C (p.Ala2044=) c.6138A>C (p.Ala2046=) c.4263A>C (p.Ala1421=) | |
| 6 | g.129427754A>G | CA451930397 | LAMA2 | c.5868A>G (p.Ala1956=) c.6132A>G (p.Ala2044=) c.6138A>G (p.Ala2046=) c.4263A>G (p.Ala1421=) | |
| 6 | g.129427754A>T | CA451930399 | LAMA2 | c.5868A>T (p.Ala1956=) c.6132A>T (p.Ala2044=) c.6138A>T (p.Ala2046=) c.4263A>T (p.Ala1421=) | |
| 6 | g.129427755A= | CA1663161511 | LAMA2 | c.5869A= (p.Thr1957=) c.6133A= (p.Thr2045=) c.6139A= (p.Thr2047=) c.4264A= (p.Thr1422=) | |
| 6 | g.129427755A>C | CA365623873 | LAMA2 | c.5869A>C (p.Thr1957Pro) c.6133A>C (p.Thr2045Pro) c.6139A>C (p.Thr2047Pro) c.4264A>C (p.Thr1422Pro) | |
| 6 | g.129427755A>G | CA365623871 | LAMA2 | c.5869A>G (p.Thr1957Ala) c.6133A>G (p.Thr2045Ala) c.6139A>G (p.Thr2047Ala) c.4264A>G (p.Thr1422Ala) | dbSNP gnomAD v4 |
| 6 | g.129427755A>T | CA365623872 | LAMA2 | c.5869A>T (p.Thr1957Ser) c.6133A>T (p.Thr2045Ser) c.6139A>T (p.Thr2047Ser) c.4264A>T (p.Thr1422Ser) | |
| 6 | g.129427756C>A | CA365623874 | LAMA2 | c.5870C>A (p.Thr1957Lys) c.6134C>A (p.Thr2045Lys) c.6140C>A (p.Thr2047Lys) c.4265C>A (p.Thr1422Lys) | |
| 6 | g.129427756C= | CA1663161519 | LAMA2 | c.5870C= (p.Thr1957=) c.6134C= (p.Thr2045=) c.6140C= (p.Thr2047=) c.4265C= (p.Thr1422=) | |
| 6 | g.129427756C>G | CA365623875 | LAMA2 | c.5870C>G (p.Thr1957Arg) c.6134C>G (p.Thr2045Arg) c.6140C>G (p.Thr2047Arg) c.4265C>G (p.Thr1422Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129427756C>T | CA365623876 | LAMA2 | c.5870C>T (p.Thr1957Ile) c.6134C>T (p.Thr2045Ile) c.6140C>T (p.Thr2047Ile) c.4265C>T (p.Thr1422Ile) | |
| 6 | g.129427757A>C | CA451930411 | LAMA2 | c.5871A>C (p.Thr1957=) c.6135A>C (p.Thr2045=) c.6141A>C (p.Thr2047=) c.4266A>C (p.Thr1422=) | |
| 6 | g.129427757A>G | CA451930413 | LAMA2 | c.5871A>G (p.Thr1957=) c.6135A>G (p.Thr2045=) c.6141A>G (p.Thr2047=) c.4266A>G (p.Thr1422=) | gnomAD v4 |
| 6 | g.129427757A>T | CA451930414 | LAMA2 | c.5871A>T (p.Thr1957=) c.6135A>T (p.Thr2045=) c.6141A>T (p.Thr2047=) c.4266A>T (p.Thr1422=) | |
| 6 | g.129427758G>A | CA365623877 | LAMA2 | c.5872G>A (p.Gly1958Ser) c.6136G>A (p.Gly2046Ser) c.6142G>A (p.Gly2048Ser) c.4267G>A (p.Gly1423Ser) | |
| 6 | g.129427758G>C | CA365623878 | LAMA2 | c.5872G>C (p.Gly1958Arg) c.6136G>C (p.Gly2046Arg) c.6142G>C (p.Gly2048Arg) c.4267G>C (p.Gly1423Arg) | |
| 6 | g.129427758G>T | CA365623879 | LAMA2 | c.5872G>T (p.Gly1958Cys) c.6136G>T (p.Gly2046Cys) c.6142G>T (p.Gly2048Cys) c.4267G>T (p.Gly1423Cys) | |
| 6 | g.129427759G>A | CA3994022 | LAMA2 | c.5873G>A (p.Gly1958Asp) c.6137G>A (p.Gly2046Asp) c.6143G>A (p.Gly2048Asp) c.4268G>A (p.Gly1423Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129427759G>C | CA365623880 | LAMA2 | c.5873G>C (p.Gly1958Ala) c.6137G>C (p.Gly2046Ala) c.6143G>C (p.Gly2048Ala) c.4268G>C (p.Gly1423Ala) | |
| 6 | g.129427759G= | CA1663161525 | LAMA2 | c.5873G= (p.Gly1958=) c.6137G= (p.Gly2046=) c.6143G= (p.Gly2048=) c.4268G= (p.Gly1423=) | |
| 6 | g.129427759G>T | CA365623881 | LAMA2 | c.5873G>T (p.Gly1958Val) c.6137G>T (p.Gly2046Val) c.6143G>T (p.Gly2048Val) c.4268G>T (p.Gly1423Val) | |
| 6 | g.129427760T>A | CA451930432 | LAMA2 | c.5874T>A (p.Gly1958=) c.6138T>A (p.Gly2046=) c.6144T>A (p.Gly2048=) c.4269T>A (p.Gly1423=) | |
| 6 | g.129427760T>C | CA451930435 | LAMA2 | c.5874T>C (p.Gly1958=) c.6138T>C (p.Gly2046=) c.6144T>C (p.Gly2048=) c.4269T>C (p.Gly1423=) | |
| 6 | g.129427760T>G | CA451930436 | LAMA2 | c.5874T>G (p.Gly1958=) c.6138T>G (p.Gly2046=) c.6144T>G (p.Gly2048=) c.4269T>G (p.Gly1423=) | |
| 6 | g.129427761C>A | CA365623882 | LAMA2 | c.5875C>A (p.Pro1959Thr) c.6139C>A (p.Pro2047Thr) c.6145C>A (p.Pro2049Thr) c.4270C>A (p.Pro1424Thr) | |
| 6 | g.129427761C>G | CA365623883 | LAMA2 | c.5875C>G (p.Pro1959Ala) c.6139C>G (p.Pro2047Ala) c.6145C>G (p.Pro2049Ala) c.4270C>G (p.Pro1424Ala) | |
| 6 | g.129427761C>T | CA365623884 | LAMA2 | c.5875C>T (p.Pro1959Ser) c.6139C>T (p.Pro2047Ser) c.6145C>T (p.Pro2049Ser) c.4270C>T (p.Pro1424Ser) | |
| 6 | g.129427762C>A | CA365623887 | LAMA2 | c.5876C>A (p.Pro1959His) c.6140C>A (p.Pro2047His) c.6146C>A (p.Pro2049His) c.4271C>A (p.Pro1424His) | COSMIC |
| 6 | g.129427762C>G | CA365623885 | LAMA2 | c.5876C>G (p.Pro1959Arg) c.6140C>G (p.Pro2047Arg) c.6146C>G (p.Pro2049Arg) c.4271C>G (p.Pro1424Arg) | |
| 6 | g.129427762C>T | CA365623886 | LAMA2 | c.5876C>T (p.Pro1959Leu) c.6140C>T (p.Pro2047Leu) c.6146C>T (p.Pro2049Leu) c.4271C>T (p.Pro1424Leu) | |
| 6 | g.129427763T>A | CA451930451 | LAMA2 | c.5877T>A (p.Pro1959=) c.6141T>A (p.Pro2047=) c.6147T>A (p.Pro2049=) c.4272T>A (p.Pro1424=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129427763T>C | CA451930457 | LAMA2 | c.5877T>C (p.Pro1959=) c.6141T>C (p.Pro2047=) c.6147T>C (p.Pro2049=) c.4272T>C (p.Pro1424=) | ClinVar gnomAD v4 |
| 6 | g.129427763T>G | CA451930454 | LAMA2 | c.5877T>G (p.Pro1959=) c.6141T>G (p.Pro2047=) c.6147T>G (p.Pro2049=) c.4272T>G (p.Pro1424=) | |
| 6 | g.129427763T= | CA1663161531 | LAMA2 | c.5877T= (p.Pro1959=) c.6141T= (p.Pro2047=) c.6147T= (p.Pro2049=) c.4272T= (p.Pro1424=) | |
| 6 | g.129427764C>A | CA451930460 | LAMA2 | c.5878C>A (p.Arg1960=) c.6142C>A (p.Arg2048=) c.6148C>A (p.Arg2050=) c.4273C>A (p.Arg1425=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129427764C= | CA1663161538 | LAMA2 | c.5878C= (p.Arg1960=) c.6142C= (p.Arg2048=) c.6148C= (p.Arg2050=) c.4273C= (p.Arg1425=) | |
| 6 | g.129427764C>G | CA365623888 | LAMA2 | c.5878C>G (p.Arg1960Gly) c.6142C>G (p.Arg2048Gly) c.6148C>G (p.Arg2050Gly) c.4273C>G (p.Arg1425Gly) | |
| 6 | g.129427764C>T | CA146909005 | LAMA2 | c.5878C>T (p.Arg1960Trp) c.6142C>T (p.Arg2048Trp) c.6148C>T (p.Arg2050Trp) c.4273C>T (p.Arg1425Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |