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 |
|---|---|---|---|---|---|
| 7 | g.116783358G>A | CA368991591 | MET | c.*1292G>A (n.*1292G>A) c.3741G>A (p.Met1247Ile) c.3687G>A (p.Met1229Ile) c.2397G>A (p.Met799Ile) c.3744G>A (p.Met1248Ile) n.3818G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783358G>C | CA368991590 | MET | c.*1292G>C (n.*1292G>C) c.3741G>C (p.Met1247Ile) c.3687G>C (p.Met1229Ile) c.2397G>C (p.Met799Ile) c.3744G>C (p.Met1248Ile) n.3818G>C | dbSNP |
| 7 | g.116783358G= | CA1737014376 | MET | c.*1292G= (n.*1292G=) c.3741G= (p.Met1247=) c.3687G= (p.Met1229=) c.2397G= (p.Met799=) c.3744G= (p.Met1248=) n.3818G= | |
| 7 | g.116783358G>T | CA368991588 | MET | c.*1292G>T (n.*1292G>T) c.3741G>T (p.Met1247Ile) c.3687G>T (p.Met1229Ile) c.2397G>T (p.Met799Ile) c.3744G>T (p.Met1248Ile) n.3818G>T | dbSNP |
| 7 | g.116783359T>A | CA368991593 | MET | c.*1293T>A (n.*1293T>A) c.3742T>A (p.Tyr1248Asn) c.3688T>A (p.Tyr1230Asn) c.2398T>A (p.Tyr800Asn) c.3745T>A (p.Tyr1249Asn) n.3819T>A | dbSNP |
| 7 | g.116783359T>C | CA241164 | MET | c.*1293T>C (n.*1293T>C) c.3742T>C (p.Tyr1248His) c.3688T>C (p.Tyr1230His) c.2398T>C (p.Tyr800His) c.3745T>C (p.Tyr1249His) n.3819T>C | ClinVar dbSNP COSMIC |
| 7 | g.116783359T>G | CA368991595 | MET | c.*1293T>G (n.*1293T>G) c.3742T>G (p.Tyr1248Asp) c.3688T>G (p.Tyr1230Asp) c.2398T>G (p.Tyr800Asp) c.3745T>G (p.Tyr1249Asp) n.3819T>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783359T= | CA1737014380 | MET | c.*1293T= (n.*1293T=) c.3742T= (p.Tyr1248=) c.3688T= (p.Tyr1230=) c.2398T= (p.Tyr800=) c.3745T= (p.Tyr1249=) n.3819T= | |
| 7 | g.116783360A= | CA1737014383 | MET | c.*1294A= (n.*1294A=) c.3743A= (p.Tyr1248=) c.3689A= (p.Tyr1230=) c.2399A= (p.Tyr800=) c.3746A= (p.Tyr1249=) n.3820A= | |
| 7 | g.116783360A>C | CA368991597 | MET | c.*1294A>C (n.*1294A>C) c.3743A>C (p.Tyr1248Ser) c.3689A>C (p.Tyr1230Ser) c.2399A>C (p.Tyr800Ser) c.3746A>C (p.Tyr1249Ser) n.3820A>C | |
| 7 | g.116783360A>G | CA257003 | MET | c.*1294A>G (n.*1294A>G) c.3743A>G (p.Tyr1248Cys) c.3689A>G (p.Tyr1230Cys) c.2399A>G (p.Tyr800Cys) c.3746A>G (p.Tyr1249Cys) n.3820A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.116783360A>T | CA368991598 | MET | c.*1294A>T (n.*1294A>T) c.3743A>T (p.Tyr1248Phe) c.3689A>T (p.Tyr1230Phe) c.2399A>T (p.Tyr800Phe) c.3746A>T (p.Tyr1249Phe) n.3820A>T | dbSNP |
| 7 | g.116783361T>A | CA368991600 | MET | c.*1295T>A (n.*1295T>A) c.3744T>A (p.Tyr1248Ter) c.3690T>A (p.Tyr1230Ter) c.2400T>A (p.Tyr800Ter) c.3747T>A (p.Tyr1249Ter) n.3821T>A | dbSNP |
| 7 | g.116783361T>C | CA457219448 | MET | c.*1295T>C (n.*1295T>C) c.3744T>C (p.Tyr1248=) c.3690T>C (p.Tyr1230=) c.2400T>C (p.Tyr800=) c.3747T>C (p.Tyr1249=) n.3821T>C | ClinVar dbSNP |
| 7 | g.116783361T>G | CA368991602 | MET | c.*1295T>G (n.*1295T>G) c.3744T>G (p.Tyr1248Ter) c.3690T>G (p.Tyr1230Ter) c.2400T>G (p.Tyr800Ter) c.3747T>G (p.Tyr1249Ter) n.3821T>G | |
| 7 | g.116783361T= | CA1737014392 | MET | c.*1295T= (n.*1295T=) c.3744T= (p.Tyr1248=) c.3690T= (p.Tyr1230=) c.2400T= (p.Tyr800=) c.3747T= (p.Tyr1249=) n.3821T= | |
| 7 | g.116783362G>A | CA368991603 | MET | c.*1296G>A (n.*1296G>A) c.3745G>A (p.Asp1249Asn) c.3691G>A (p.Asp1231Asn) c.2401G>A (p.Asp801Asn) c.3748G>A (p.Asp1250Asn) n.3822G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116783362G>C | CA368991604 | MET | c.*1296G>C (n.*1296G>C) c.3745G>C (p.Asp1249His) c.3691G>C (p.Asp1231His) c.2401G>C (p.Asp801His) c.3748G>C (p.Asp1250His) n.3822G>C | |
| 7 | g.116783362G= | CA1737014397 | MET | c.*1296G= (n.*1296G=) c.3745G= (p.Asp1249=) c.3691G= (p.Asp1231=) c.2401G= (p.Asp801=) c.3748G= (p.Asp1250=) n.3822G= | |
| 7 | g.116783362G>T | CA368991606 | MET | c.*1296G>T (n.*1296G>T) c.3745G>T (p.Asp1249Tyr) c.3691G>T (p.Asp1231Tyr) c.2401G>T (p.Asp801Tyr) c.3748G>T (p.Asp1250Tyr) n.3822G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783363A= | CA1737014402 | MET | c.*1297A= (n.*1297A=) c.3746A= (p.Asp1249=) c.3692A= (p.Asp1231=) c.2402A= (p.Asp801=) c.3749A= (p.Asp1250=) n.3823A= | |
| 7 | g.116783363A>C | CA368991607 | MET | c.*1297A>C (n.*1297A>C) c.3746A>C (p.Asp1249Ala) c.3692A>C (p.Asp1231Ala) c.2402A>C (p.Asp801Ala) c.3749A>C (p.Asp1250Ala) n.3823A>C | |
| 7 | g.116783363A>G | CA368991608 | MET | c.*1297A>G (n.*1297A>G) c.3746A>G (p.Asp1249Gly) c.3692A>G (p.Asp1231Gly) c.2402A>G (p.Asp801Gly) c.3749A>G (p.Asp1250Gly) n.3823A>G | ClinVar gnomAD v4 |
| 7 | g.116783363A>T | CA368991609 | MET | c.*1297A>T (n.*1297A>T) c.3746A>T (p.Asp1249Val) c.3692A>T (p.Asp1231Val) c.2402A>T (p.Asp801Val) c.3749A>T (p.Asp1250Val) n.3823A>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783364T>A | CA368991611 | MET | c.*1298T>A (n.*1298T>A) c.3747T>A (p.Asp1249Glu) c.3693T>A (p.Asp1231Glu) c.2403T>A (p.Asp801Glu) c.3750T>A (p.Asp1250Glu) n.3824T>A | |
| 7 | g.116783364T>C | CA457219451 | MET | c.*1298T>C (n.*1298T>C) c.3747T>C (p.Asp1249=) c.3693T>C (p.Asp1231=) c.2403T>C (p.Asp801=) c.3750T>C (p.Asp1250=) n.3824T>C | gnomAD v4 |
| 7 | g.116783364T>G | CA368991613 | MET | c.*1298T>G (n.*1298T>G) c.3747T>G (p.Asp1249Glu) c.3693T>G (p.Asp1231Glu) c.2403T>G (p.Asp801Glu) c.3750T>G (p.Asp1250Glu) n.3824T>G | |
| 7 | g.116783365A>C | CA368991617 | MET | c.*1299A>C (n.*1299A>C) c.3748A>C (p.Lys1250Gln) c.3694A>C (p.Lys1232Gln) c.2404A>C (p.Lys802Gln) c.3751A>C (p.Lys1251Gln) n.3825A>C | |
| 7 | g.116783365A>G | CA368991616 | MET | c.*1299A>G (n.*1299A>G) c.3748A>G (p.Lys1250Glu) c.3694A>G (p.Lys1232Glu) c.2404A>G (p.Lys802Glu) c.3751A>G (p.Lys1251Glu) n.3825A>G | |
| 7 | g.116783365A>T | CA368991615 | MET | c.*1299A>T (n.*1299A>T) c.3748A>T (p.Lys1250Ter) c.3694A>T (p.Lys1232Ter) c.2404A>T (p.Lys802Ter) c.3751A>T (p.Lys1251Ter) n.3825A>T | |
| 7 | g.116783366A>C | CA368991620 | MET | c.*1300A>C (n.*1300A>C) c.3749A>C (p.Lys1250Thr) c.3695A>C (p.Lys1232Thr) c.2405A>C (p.Lys802Thr) c.3752A>C (p.Lys1251Thr) n.3826A>C | |
| 7 | g.116783366A>G | CA368991621 | MET | c.*1300A>G (n.*1300A>G) c.3749A>G (p.Lys1250Arg) c.3695A>G (p.Lys1232Arg) c.2405A>G (p.Lys802Arg) c.3752A>G (p.Lys1251Arg) n.3826A>G | |
| 7 | g.116783366A>T | CA368991623 | MET | c.*1300A>T (n.*1300A>T) c.3749A>T (p.Lys1250Ile) c.3695A>T (p.Lys1232Ile) c.2405A>T (p.Lys802Ile) c.3752A>T (p.Lys1251Ile) n.3826A>T | |
| 7 | g.116783367A>C | CA368991625 | MET | c.*1301A>C (n.*1301A>C) c.3750A>C (p.Lys1250Asn) c.3696A>C (p.Lys1232Asn) c.2406A>C (p.Lys802Asn) c.3753A>C (p.Lys1251Asn) n.3827A>C | |
| 7 | g.116783367A>G | CA457219452 | MET | c.*1301A>G (n.*1301A>G) c.3750A>G (p.Lys1250=) c.3696A>G (p.Lys1232=) c.2406A>G (p.Lys802=) c.3753A>G (p.Lys1251=) n.3827A>G | dbSNP |
| 7 | g.116783367A>T | CA368991627 | MET | c.*1301A>T (n.*1301A>T) c.3750A>T (p.Lys1250Asn) c.3696A>T (p.Lys1232Asn) c.2406A>T (p.Lys802Asn) c.3753A>T (p.Lys1251Asn) n.3827A>T | |
| 7 | g.116783368G>A | CA368991629 | MET | c.*1302G>A (n.*1302G>A) c.3751G>A (p.Glu1251Lys) c.3697G>A (p.Glu1233Lys) c.2407G>A (p.Glu803Lys) c.3754G>A (p.Glu1252Lys) n.3828G>A | dbSNP |
| 7 | g.116783368G>C | CA368991631 | MET | c.*1302G>C (n.*1302G>C) c.3751G>C (p.Glu1251Gln) c.3697G>C (p.Glu1233Gln) c.2407G>C (p.Glu803Gln) c.3754G>C (p.Glu1252Gln) n.3828G>C | dbSNP |
| 7 | g.116783368G>T | CA368991632 | MET | c.*1302G>T (n.*1302G>T) c.3751G>T (p.Glu1251Ter) c.3697G>T (p.Glu1233Ter) c.2407G>T (p.Glu803Ter) c.3754G>T (p.Glu1252Ter) n.3828G>T | |
| 7 | g.116783369A>C | CA368991634 | MET | c.*1303A>C (n.*1303A>C) c.3752A>C (p.Glu1251Ala) c.3698A>C (p.Glu1233Ala) c.2408A>C (p.Glu803Ala) c.3755A>C (p.Glu1252Ala) n.3829A>C | |
| 7 | g.116783369A>G | CA368991636 | MET | c.*1303A>G (n.*1303A>G) c.3752A>G (p.Glu1251Gly) c.3698A>G (p.Glu1233Gly) c.2408A>G (p.Glu803Gly) c.3755A>G (p.Glu1252Gly) n.3829A>G | |
| 7 | g.116783369A>T | CA368991638 | MET | c.*1303A>T (n.*1303A>T) c.3752A>T (p.Glu1251Val) c.3698A>T (p.Glu1233Val) c.2408A>T (p.Glu803Val) c.3755A>T (p.Glu1252Val) n.3829A>T | |
| 7 | g.116783370A>C | CA368991640 | MET | c.*1304A>C (n.*1304A>C) c.3753A>C (p.Glu1251Asp) c.3699A>C (p.Glu1233Asp) c.2409A>C (p.Glu803Asp) c.3756A>C (p.Glu1252Asp) n.3830A>C | |
| 7 | g.116783370A>G | CA457219454 | MET | c.*1304A>G (n.*1304A>G) c.3753A>G (p.Glu1251=) c.3699A>G (p.Glu1233=) c.2409A>G (p.Glu803=) c.3756A>G (p.Glu1252=) n.3830A>G | |
| 7 | g.116783370A>T | CA368991641 | MET | c.*1304A>T (n.*1304A>T) c.3753A>T (p.Glu1251Asp) c.3699A>T (p.Glu1233Asp) c.2409A>T (p.Glu803Asp) c.3756A>T (p.Glu1252Asp) n.3830A>T | |
| 7 | g.116783371T>A | CA368991645 | MET | c.*1305T>A (n.*1305T>A) c.3754T>A (p.Tyr1252Asn) c.3700T>A (p.Tyr1234Asn) c.2410T>A (p.Tyr804Asn) c.3757T>A (p.Tyr1253Asn) n.3831T>A | dbSNP |
| 7 | g.116783371T>C | CA368991646 | MET | c.*1305T>C (n.*1305T>C) c.3754T>C (p.Tyr1252His) c.3700T>C (p.Tyr1234His) c.2410T>C (p.Tyr804His) c.3757T>C (p.Tyr1253His) n.3831T>C | |
| 7 | g.116783371T>G | CA368991643 | MET | c.*1305T>G (n.*1305T>G) c.3754T>G (p.Tyr1252Asp) c.3700T>G (p.Tyr1234Asp) c.2410T>G (p.Tyr804Asp) c.3757T>G (p.Tyr1253Asp) n.3831T>G | |
| 7 | g.116783372A= | CA1737014413 | MET | c.*1306A= (n.*1306A=) c.3755A= (p.Tyr1252=) c.3701A= (p.Tyr1234=) c.2411A= (p.Tyr804=) c.3758A= (p.Tyr1253=) n.3832A= | |
| 7 | g.116783372A>C | CA368991648 | MET | c.*1306A>C (n.*1306A>C) c.3755A>C (p.Tyr1252Ser) c.3701A>C (p.Tyr1234Ser) c.2411A>C (p.Tyr804Ser) c.3758A>C (p.Tyr1253Ser) n.3832A>C | dbSNP |