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 |
|---|---|---|---|---|---|
| 5 | g.69420283T>A | CA182270 | MARVELD2 | c.898T>A (p.Leu300Met) c.725+173T>A (n.725+173T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420283T>C | CA445083522 | MARVELD2 | c.898T>C (p.Leu300=) c.725+173T>C (n.725+173T>C) | gnomAD v4 |
| 5 | g.69420283T>G | CA359924922 | MARVELD2 | c.898T>G (p.Leu300Val) c.725+173T>G (n.725+173T>G) | |
| 5 | g.69420283T= | CA1553917159 | MARVELD2 | c.898T= (p.Leu300=) c.725+173T= (n.725+173T=) | |
| 5 | g.69420284T>A | CA359924923 | MARVELD2 | c.899T>A (p.Leu300Ter) c.726-175T>A (n.726-175T>A) | |
| 5 | g.69420284T>C | CA359924924 | MARVELD2 | c.899T>C (p.Leu300Ser) c.726-175T>C (n.726-175T>C) | |
| 5 | g.69420284T>G | CA359924925 | MARVELD2 | c.899T>G (p.Leu300Trp) c.726-175T>G (n.726-175T>G) | |
| 5 | g.69420285G>A | CA176718 | MARVELD2 | c.900G>A (p.Leu300=) c.726-174G>A (n.726-174G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420285G>C | CA359924927 | MARVELD2 | c.900G>C (p.Leu300Phe) c.726-174G>C (n.726-174G>C) | |
| 5 | g.69420285G= | CA1553917164 | MARVELD2 | c.900G= (p.Leu300=) c.726-174G= (n.726-174G=) | |
| 5 | g.69420285G>T | CA359924926 | MARVELD2 | c.900G>T (p.Leu300Phe) c.726-174G>T (n.726-174G>T) | gnomAD v4 |
| 5 | g.69420286T>A | CA359924928 | MARVELD2 | c.901T>A (p.Phe301Ile) c.726-173T>A (n.726-173T>A) | |
| 5 | g.69420286T>C | CA359924929 | MARVELD2 | c.901T>C (p.Phe301Leu) c.726-173T>C (n.726-173T>C) | gnomAD v4 |
| 5 | g.69420286T>G | CA359924930 | MARVELD2 | c.901T>G (p.Phe301Val) c.726-173T>G (n.726-173T>G) | |
| 5 | g.69420287T>A | CA359924931 | MARVELD2 | c.902T>A (p.Phe301Tyr) c.726-172T>A (n.726-172T>A) | |
| 5 | g.69420287T>C | CA359924932 | MARVELD2 | c.902T>C (p.Phe301Ser) c.726-172T>C (n.726-172T>C) | |
| 5 | g.69420287T>G | CA359924933 | MARVELD2 | c.902T>G (p.Phe301Cys) c.726-172T>G (n.726-172T>G) | gnomAD v4 |
| 5 | g.69420288T>A | CA359924934 | MARVELD2 | c.903T>A (p.Phe301Leu) c.726-171T>A (n.726-171T>A) | |
| 5 | g.69420288T>C | CA445083536 | MARVELD2 | c.903T>C (p.Phe301=) c.726-171T>C (n.726-171T>C) | |
| 5 | g.69420288T>G | CA359924935 | MARVELD2 | c.903T>G (p.Phe301Leu) c.726-171T>G (n.726-171T>G) | |
| 5 | g.69420289A>C | CA359924936 | MARVELD2 | c.904A>C (p.Ile302Leu) c.726-170A>C (n.726-170A>C) | |
| 5 | g.69420289A>G | CA359924937 | MARVELD2 | c.904A>G (p.Ile302Val) c.726-170A>G (n.726-170A>G) | |
| 5 | g.69420289A>T | CA359924938 | MARVELD2 | c.904A>T (p.Ile302Phe) c.726-170A>T (n.726-170A>T) | |
| 5 | g.69420290T>A | CA359924939 | MARVELD2 | c.905T>A (p.Ile302Asn) c.726-169T>A (n.726-169T>A) | |
| 5 | g.69420290T>C | CA359924940 | MARVELD2 | c.905T>C (p.Ile302Thr) c.726-169T>C (n.726-169T>C) | |
| 5 | g.69420290T>G | CA359924941 | MARVELD2 | c.905T>G (p.Ile302Ser) c.726-169T>G (n.726-169T>G) | |
| 5 | g.69420291T>A | CA445083540 | MARVELD2 | c.906T>A (p.Ile302=) c.726-168T>A (n.726-168T>A) | |
| 5 | g.69420291T>C | CA445083541 | MARVELD2 | c.906T>C (p.Ile302=) c.726-168T>C (n.726-168T>C) | |
| 5 | g.69420291T>G | CA359924942 | MARVELD2 | c.906T>G (p.Ile302Met) c.726-168T>G (n.726-168T>G) | gnomAD v4 |
| 5 | g.69420292T>A | CA359924944 | MARVELD2 | c.907T>A (p.Leu303Met) c.726-167T>A (n.726-167T>A) | |
| 5 | g.69420292T>C | CA445083547 | MARVELD2 | c.907T>C (p.Leu303=) c.726-167T>C (n.726-167T>C) | |
| 5 | g.69420292T>G | CA359924943 | MARVELD2 | c.907T>G (p.Leu303Val) c.726-167T>G (n.726-167T>G) | |
| 5 | g.69420293T>A | CA359924947 | MARVELD2 | c.908T>A (p.Leu303Ter) c.726-166T>A (n.726-166T>A) | |
| 5 | g.69420293T>C | CA359924945 | MARVELD2 | c.908T>C (p.Leu303Ser) c.726-166T>C (n.726-166T>C) | |
| 5 | g.69420293T>G | CA359924946 | MARVELD2 | c.908T>G (p.Leu303Trp) c.726-166T>G (n.726-166T>G) | |
| 5 | g.69420294G>A | CA445083553 | MARVELD2 | c.909G>A (p.Leu303=) c.726-165G>A (n.726-165G>A) | |
| 5 | g.69420294G>C | CA359924948 | MARVELD2 | c.909G>C (p.Leu303Phe) c.726-165G>C (n.726-165G>C) | gnomAD v4 |
| 5 | g.69420294G>T | CA359924949 | MARVELD2 | c.909G>T (p.Leu303Phe) c.726-165G>T (n.726-165G>T) | |
| 5 | g.69420295T>A | CA359924950 | MARVELD2 | c.910T>A (p.Tyr304Asn) c.726-164T>A (n.726-164T>A) | |
| 5 | g.69420295T>C | CA359924951 | MARVELD2 | c.910T>C (p.Tyr304His) c.726-164T>C (n.726-164T>C) | |
| 5 | g.69420295T>G | CA359924952 | MARVELD2 | c.910T>G (p.Tyr304Asp) c.726-164T>G (n.726-164T>G) | |
| 5 | g.69420296A= | CA1553917170 | MARVELD2 | c.911A= (p.Tyr304=) c.726-163A= (n.726-163A=) | |
| 5 | g.69420296A>C | CA3294135 | MARVELD2 | c.911A>C (p.Tyr304Ser) c.726-163A>C (n.726-163A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420296A>G | CA359924953 | MARVELD2 | c.911A>G (p.Tyr304Cys) c.726-163A>G (n.726-163A>G) | |
| 5 | g.69420296A>T | CA359924954 | MARVELD2 | c.911A>T (p.Tyr304Phe) c.726-163A>T (n.726-163A>T) | |
| 5 | g.69420297T>A | CA359924955 | MARVELD2 | c.912T>A (p.Tyr304Ter) c.726-162T>A (n.726-162T>A) | |
| 5 | g.69420297T>C | CA445083565 | MARVELD2 | c.912T>C (p.Tyr304=) c.726-162T>C (n.726-162T>C) | |
| 5 | g.69420297T>G | CA359924956 | MARVELD2 | c.912T>G (p.Tyr304Ter) c.726-162T>G (n.726-162T>G) | |
| 5 | g.69420298A= | CA1553917172 | MARVELD2 | c.913A= (p.Met305=) c.726-161A= (n.726-161A=) | |
| 5 | g.69420298A>C | CA359924959 | MARVELD2 | c.913A>C (p.Met305Leu) c.726-161A>C (n.726-161A>C) |