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 |
|---|---|---|---|---|---|
| 6 | g.142370315T>A | CA365820519 | ADGRG6 | c.591T>A (p.Ser197Arg) n.971T>A c.588T>A (p.Ser196Arg) n.616+87T>A c.594T>A (p.Ser198Arg) | |
| 6 | g.142370315T>C | CA4026681 | ADGRG6 | c.591T>C (p.Ser197=) n.971T>C c.588T>C (p.Ser196=) n.616+87T>C c.594T>C (p.Ser198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.142370315T>G | CA365820520 | ADGRG6 | c.591T>G (p.Ser197Arg) n.971T>G c.588T>G (p.Ser196Arg) n.616+87T>G c.594T>G (p.Ser198Arg) | |
| 6 | g.142370315T= | CA1668770958 | ADGRG6 | c.591T= (p.Ser197=) n.971T= c.588T= (p.Ser196=) n.616+87T= c.594T= (p.Ser198=) | |
| 6 | g.142370316G>A | CA365820521 | ADGRG6 | c.592G>A (p.Asp198Asn) n.972G>A c.589G>A (p.Asp197Asn) n.616+88G>A c.595G>A (p.Asp199Asn) | |
| 6 | g.142370316G>C | CA365820522 | ADGRG6 | c.592G>C (p.Asp198His) n.972G>C c.589G>C (p.Asp197His) n.616+88G>C c.595G>C (p.Asp199His) | gnomAD v4 |
| 6 | g.142370316G>T | CA365820523 | ADGRG6 | c.592G>T (p.Asp198Tyr) n.972G>T c.589G>T (p.Asp197Tyr) n.616+88G>T c.595G>T (p.Asp199Tyr) | |
| 6 | g.142370317A>C | CA365820524 | ADGRG6 | c.593A>C (p.Asp198Ala) n.973A>C c.590A>C (p.Asp197Ala) n.616+89A>C c.596A>C (p.Asp199Ala) | |
| 6 | g.142370317A>G | CA365820525 | ADGRG6 | c.593A>G (p.Asp198Gly) n.973A>G c.590A>G (p.Asp197Gly) n.616+89A>G c.596A>G (p.Asp199Gly) | |
| 6 | g.142370317A>T | CA365820526 | ADGRG6 | c.593A>T (p.Asp198Val) n.973A>T c.590A>T (p.Asp197Val) n.616+89A>T c.596A>T (p.Asp199Val) | |
| 6 | g.142370318T>A | CA365820527 | ADGRG6 | c.594T>A (p.Asp198Glu) n.974T>A c.591T>A (p.Asp197Glu) n.616+90T>A c.597T>A (p.Asp199Glu) | |
| 6 | g.142370318T>C | CA452649901 | ADGRG6 | c.594T>C (p.Asp198=) n.974T>C c.591T>C (p.Asp197=) n.616+90T>C c.597T>C (p.Asp199=) | |
| 6 | g.142370318T>G | CA365820528 | ADGRG6 | c.594T>G (p.Asp198Glu) n.974T>G c.591T>G (p.Asp197Glu) n.616+90T>G c.597T>G (p.Asp199Glu) | |
| 6 | g.142370319T>A | CA365820529 | ADGRG6 | c.595T>A (p.Trp199Arg) n.975T>A c.592T>A (p.Trp198Arg) n.616+91T>A c.598T>A (p.Trp200Arg) | |
| 6 | g.142370319T>C | CA365820530 | ADGRG6 | c.595T>C (p.Trp199Arg) n.975T>C c.592T>C (p.Trp198Arg) n.616+91T>C c.598T>C (p.Trp200Arg) | |
| 6 | g.142370319T>G | CA365820531 | ADGRG6 | c.595T>G (p.Trp199Gly) n.975T>G c.592T>G (p.Trp198Gly) n.616+91T>G c.598T>G (p.Trp200Gly) | |
| 6 | g.142370320G>A | CA365820532 | ADGRG6 | c.596G>A (p.Trp199Ter) n.976G>A c.593G>A (p.Trp198Ter) n.616+92G>A c.599G>A (p.Trp200Ter) | |
| 6 | g.142370320G>C | CA365820533 | ADGRG6 | c.596G>C (p.Trp199Ser) n.976G>C c.593G>C (p.Trp198Ser) n.616+92G>C c.599G>C (p.Trp200Ser) | |
| 6 | g.142370320G= | CA1668770959 | ADGRG6 | c.596G= (p.Trp199=) n.976G= c.593G= (p.Trp198=) n.616+92G= c.599G= (p.Trp200=) | |
| 6 | g.142370320G>T | CA365820534 | ADGRG6 | c.596G>T (p.Trp199Leu) n.976G>T c.593G>T (p.Trp198Leu) n.616+92G>T c.599G>T (p.Trp200Leu) | |
| 6 | g.142370321G>A | CA365820535 | ADGRG6 | c.597G>A (p.Trp199Ter) n.977G>A c.594G>A (p.Trp198Ter) n.616+93G>A c.600G>A (p.Trp200Ter) | |
| 6 | g.142370321G>C | CA365820536 | ADGRG6 | c.597G>C (p.Trp199Cys) n.977G>C c.594G>C (p.Trp198Cys) n.616+93G>C c.600G>C (p.Trp200Cys) | |
| 6 | g.142370321G>T | CA365820537 | ADGRG6 | c.597G>T (p.Trp199Cys) n.977G>T c.594G>T (p.Trp198Cys) n.616+93G>T c.600G>T (p.Trp200Cys) | |
| 6 | g.142370322A>C | CA365820538 | ADGRG6 | c.598A>C (p.Thr200Pro) n.978A>C c.595A>C (p.Thr199Pro) n.616+94A>C c.601A>C (p.Thr201Pro) | |
| 6 | g.142370322A>G | CA365820539 | ADGRG6 | c.598A>G (p.Thr200Ala) n.978A>G c.595A>G (p.Thr199Ala) n.616+94A>G c.601A>G (p.Thr201Ala) | |
| 6 | g.142370322A>T | CA365820540 | ADGRG6 | c.598A>T (p.Thr200Ser) n.978A>T c.595A>T (p.Thr199Ser) n.616+94A>T c.601A>T (p.Thr201Ser) | gnomAD v4 |
| 6 | g.142370323C>A | CA365820543 | ADGRG6 | c.599C>A (p.Thr200Lys) n.979C>A c.596C>A (p.Thr199Lys) n.616+95C>A c.602C>A (p.Thr201Lys) | |
| 6 | g.142370323C>G | CA365820541 | ADGRG6 | c.599C>G (p.Thr200Arg) n.979C>G c.596C>G (p.Thr199Arg) n.616+95C>G c.602C>G (p.Thr201Arg) | |
| 6 | g.142370323C>T | CA365820542 | ADGRG6 | c.599C>T (p.Thr200Ile) n.979C>T c.596C>T (p.Thr199Ile) n.616+95C>T c.602C>T (p.Thr201Ile) | |
| 6 | g.142370324A>C | CA452649902 | ADGRG6 | c.600A>C (p.Thr200=) n.980A>C c.597A>C (p.Thr199=) n.616+96A>C c.603A>C (p.Thr201=) | |
| 6 | g.142370324A>G | CA452649903 | ADGRG6 | c.600A>G (p.Thr200=) n.980A>G c.597A>G (p.Thr199=) n.616+96A>G c.603A>G (p.Thr201=) | |
| 6 | g.142370324A>T | CA452649904 | ADGRG6 | c.600A>T (p.Thr200=) n.980A>T c.597A>T (p.Thr199=) n.616+96A>T c.603A>T (p.Thr201=) | |
| 6 | g.142370325G>A | CA365820544 | ADGRG6 | c.601G>A (p.Ala201Thr) n.981G>A c.598G>A (p.Ala200Thr) n.616+97G>A c.604G>A (p.Ala202Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.142370325G>C | CA365820545 | ADGRG6 | c.601G>C (p.Ala201Pro) n.981G>C c.598G>C (p.Ala200Pro) n.616+97G>C c.604G>C (p.Ala202Pro) | |
| 6 | g.142370325G= | CA1668770960 | ADGRG6 | c.601G= (p.Ala201=) n.981G= c.598G= (p.Ala200=) n.616+97G= c.604G= (p.Ala202=) | |
| 6 | g.142370325G>T | CA365820546 | ADGRG6 | c.601G>T (p.Ala201Ser) n.981G>T c.598G>T (p.Ala200Ser) n.616+97G>T c.604G>T (p.Ala202Ser) | |
| 6 | g.142370326C>A | CA365820547 | ADGRG6 | c.602C>A (p.Ala201Asp) n.982C>A c.599C>A (p.Ala200Asp) n.616+98C>A c.605C>A (p.Ala202Asp) | |
| 6 | g.142370326C= | CA1668770961 | ADGRG6 | c.602C= (p.Ala201=) n.982C= c.599C= (p.Ala200=) n.616+98C= c.605C= (p.Ala202=) | |
| 6 | g.142370326C>G | CA365820548 | ADGRG6 | c.602C>G (p.Ala201Gly) n.982C>G c.599C>G (p.Ala200Gly) n.616+98C>G c.605C>G (p.Ala202Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.142370326C>T | CA365820549 | ADGRG6 | c.602C>T (p.Ala201Val) n.982C>T c.599C>T (p.Ala200Val) n.616+98C>T c.605C>T (p.Ala202Val) | |
| 6 | g.142370327T>A | CA452649905 | ADGRG6 | c.603T>A (p.Ala201=) n.983T>A c.600T>A (p.Ala200=) n.616+99T>A c.606T>A (p.Ala202=) | |
| 6 | g.142370327T>C | CA452649906 | ADGRG6 | c.603T>C (p.Ala201=) n.983T>C c.600T>C (p.Ala200=) n.616+99T>C c.606T>C (p.Ala202=) | |
| 6 | g.142370327T>G | CA452649907 | ADGRG6 | c.603T>G (p.Ala201=) n.983T>G c.600T>G (p.Ala200=) n.616+99T>G c.606T>G (p.Ala202=) | |
| 6 | g.142370328T>A | CA365820552 | ADGRG6 | c.604T>A (p.Phe202Ile) n.984T>A c.601T>A (p.Phe201Ile) n.616+100T>A c.607T>A (p.Phe203Ile) | |
| 6 | g.142370328T>C | CA365820550 | ADGRG6 | c.604T>C (p.Phe202Leu) n.984T>C c.601T>C (p.Phe201Leu) n.616+100T>C c.607T>C (p.Phe203Leu) | |
| 6 | g.142370328T>G | CA365820551 | ADGRG6 | c.604T>G (p.Phe202Val) n.984T>G c.601T>G (p.Phe201Val) n.616+100T>G c.607T>G (p.Phe203Val) | |
| 6 | g.142370329T>A | CA365820553 | ADGRG6 | c.605T>A (p.Phe202Tyr) n.985T>A c.602T>A (p.Phe201Tyr) n.616+101T>A c.608T>A (p.Phe203Tyr) | |
| 6 | g.142370329T>C | CA365820554 | ADGRG6 | c.605T>C (p.Phe202Ser) n.985T>C c.602T>C (p.Phe201Ser) n.616+101T>C c.608T>C (p.Phe203Ser) | |
| 6 | g.142370329T>G | CA365820555 | ADGRG6 | c.605T>G (p.Phe202Cys) n.985T>G c.602T>G (p.Phe201Cys) n.616+101T>G c.608T>G (p.Phe203Cys) | dbSNP |
| 6 | g.142370329T= | CA1668770962 | ADGRG6 | c.605T= (p.Phe202=) n.985T= c.602T= (p.Phe201=) n.616+101T= c.608T= (p.Phe203=) |