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.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 |
| 7 | g.116783372A>G | CA368991650 | MET | c.*1306A>G (n.*1306A>G) c.3755A>G (p.Tyr1252Cys) c.3701A>G (p.Tyr1234Cys) c.2411A>G (p.Tyr804Cys) c.3758A>G (p.Tyr1253Cys) n.3832A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783372A>T | CA368991651 | MET | c.*1306A>T (n.*1306A>T) c.3755A>T (p.Tyr1252Phe) c.3701A>T (p.Tyr1234Phe) c.2411A>T (p.Tyr804Phe) c.3758A>T (p.Tyr1253Phe) n.3832A>T | dbSNP |
| 7 | g.116783373C>A | CA368991653 | MET | c.*1307C>A (n.*1307C>A) c.3756C>A (p.Tyr1252Ter) c.3702C>A (p.Tyr1234Ter) c.2412C>A (p.Tyr804Ter) c.3759C>A (p.Tyr1253Ter) n.3833C>A | dbSNP |
| 7 | g.116783373C= | CA1737014423 | MET | c.*1307C= (n.*1307C=) c.3756C= (p.Tyr1252=) c.3702C= (p.Tyr1234=) c.2412C= (p.Tyr804=) c.3759C= (p.Tyr1253=) n.3833C= | |
| 7 | g.116783373C>G | CA368991654 | MET | c.*1307C>G (n.*1307C>G) c.3756C>G (p.Tyr1252Ter) c.3702C>G (p.Tyr1234Ter) c.2412C>G (p.Tyr804Ter) c.3759C>G (p.Tyr1253Ter) n.3833C>G | dbSNP |
| 7 | g.116783373C>T | CA4448765 | MET | c.*1307C>T (n.*1307C>T) c.3756C>T (p.Tyr1252=) c.3702C>T (p.Tyr1234=) c.2412C>T (p.Tyr804=) c.3759C>T (p.Tyr1253=) n.3833C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116783374T>A | CA368991657 | MET | c.*1308T>A (n.*1308T>A) c.3757T>A (p.Tyr1253Asn) c.3703T>A (p.Tyr1235Asn) c.2413T>A (p.Tyr805Asn) c.3760T>A (p.Tyr1254Asn) n.3834T>A | dbSNP |
| 7 | g.116783374T>C | CA368991658 | MET | c.*1308T>C (n.*1308T>C) c.3757T>C (p.Tyr1253His) c.3703T>C (p.Tyr1235His) c.2413T>C (p.Tyr805His) c.3760T>C (p.Tyr1254His) n.3834T>C | dbSNP COSMIC |
| 7 | g.116783374T>G | CA16602655 | MET | c.*1308T>G (n.*1308T>G) c.3757T>G (p.Tyr1253Asp) c.3703T>G (p.Tyr1235Asp) c.2413T>G (p.Tyr805Asp) c.3760T>G (p.Tyr1254Asp) n.3834T>G | ClinVar dbSNP COSMIC |
| 7 | g.116783374T= | CA1737014432 | MET | c.*1308T= (n.*1308T=) c.3757T= (p.Tyr1253=) c.3703T= (p.Tyr1235=) c.2413T= (p.Tyr805=) c.3760T= (p.Tyr1254=) n.3834T= | |
| 7 | g.116783375A>C | CA368991659 | MET | c.*1309A>C (n.*1309A>C) c.3758A>C (p.Tyr1253Ser) c.3704A>C (p.Tyr1235Ser) c.2414A>C (p.Tyr805Ser) c.3761A>C (p.Tyr1254Ser) n.3835A>C | |
| 7 | g.116783375A>G | CA368991661 | MET | c.*1309A>G (n.*1309A>G) c.3758A>G (p.Tyr1253Cys) c.3704A>G (p.Tyr1235Cys) c.2414A>G (p.Tyr805Cys) c.3761A>G (p.Tyr1254Cys) n.3835A>G | ClinVar |
| 7 | g.116783375A>T | CA368991663 | MET | c.*1309A>T (n.*1309A>T) c.3758A>T (p.Tyr1253Phe) c.3704A>T (p.Tyr1235Phe) c.2414A>T (p.Tyr805Phe) c.3761A>T (p.Tyr1254Phe) n.3835A>T | dbSNP |
| 7 | g.116783376T>A | CA368991666 | MET | c.*1310T>A (n.*1310T>A) c.3759T>A (p.Tyr1253Ter) c.3705T>A (p.Tyr1235Ter) c.2415T>A (p.Tyr805Ter) c.3762T>A (p.Tyr1254Ter) n.3836T>A | dbSNP |
| 7 | g.116783376T>C | CA4448766 | MET | c.*1310T>C (n.*1310T>C) c.3759T>C (p.Tyr1253=) c.3705T>C (p.Tyr1235=) c.2415T>C (p.Tyr805=) c.3762T>C (p.Tyr1254=) n.3836T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116783376T>G | CA368991664 | MET | c.*1310T>G (n.*1310T>G) c.3759T>G (p.Tyr1253Ter) c.3705T>G (p.Tyr1235Ter) c.2415T>G (p.Tyr805Ter) c.3762T>G (p.Tyr1254Ter) n.3836T>G | gnomAD v4 |
| 7 | g.116783376T= | CA1737014441 | MET | c.*1310T= (n.*1310T=) c.3759T= (p.Tyr1253=) c.3705T= (p.Tyr1235=) c.2415T= (p.Tyr805=) c.3762T= (p.Tyr1254=) n.3836T= | |
| 7 | g.116783377A>C | CA368991668 | MET | c.*1311A>C (n.*1311A>C) c.3760A>C (p.Ser1254Arg) c.3706A>C (p.Ser1236Arg) c.2416A>C (p.Ser806Arg) c.3763A>C (p.Ser1255Arg) n.3837A>C | ClinVar |
| 7 | g.116783377A>G | CA368991670 | MET | c.*1311A>G (n.*1311A>G) c.3760A>G (p.Ser1254Gly) c.3706A>G (p.Ser1236Gly) c.2416A>G (p.Ser806Gly) c.3763A>G (p.Ser1255Gly) n.3837A>G | |
| 7 | g.116783377A>T | CA368991671 | MET | c.*1311A>T (n.*1311A>T) c.3760A>T (p.Ser1254Cys) c.3706A>T (p.Ser1236Cys) c.2416A>T (p.Ser806Cys) c.3763A>T (p.Ser1255Cys) n.3837A>T | dbSNP |
| 7 | g.116783378G>A | CA368991673 | MET | c.*1312G>A (n.*1312G>A) c.3761G>A (p.Ser1254Asn) c.3707G>A (p.Ser1236Asn) c.2417G>A (p.Ser806Asn) c.3764G>A (p.Ser1255Asn) n.3838G>A | dbSNP |
| 7 | g.116783378G>C | CA368991675 | MET | c.*1312G>C (n.*1312G>C) c.3761G>C (p.Ser1254Thr) c.3707G>C (p.Ser1236Thr) c.2417G>C (p.Ser806Thr) c.3764G>C (p.Ser1255Thr) n.3838G>C | dbSNP |
| 7 | g.116783378G>T | CA368991676 | MET | c.*1312G>T (n.*1312G>T) c.3761G>T (p.Ser1254Ile) c.3707G>T (p.Ser1236Ile) c.2417G>T (p.Ser806Ile) c.3764G>T (p.Ser1255Ile) n.3838G>T | |
| 7 | g.116783379T>A | CA368991678 | MET | c.*1313T>A (n.*1313T>A) c.3762T>A (p.Ser1254Arg) c.3708T>A (p.Ser1236Arg) c.2418T>A (p.Ser806Arg) c.3765T>A (p.Ser1255Arg) n.3839T>A | dbSNP COSMIC |
| 7 | g.116783379T>C | CA457219457 | MET | c.*1313T>C (n.*1313T>C) c.3762T>C (p.Ser1254=) c.3708T>C (p.Ser1236=) c.2418T>C (p.Ser806=) c.3765T>C (p.Ser1255=) n.3839T>C | ClinVar gnomAD v4 |
| 7 | g.116783379T>G | CA368991679 | MET | c.*1313T>G (n.*1313T>G) c.3762T>G (p.Ser1254Arg) c.3708T>G (p.Ser1236Arg) c.2418T>G (p.Ser806Arg) c.3765T>G (p.Ser1255Arg) n.3839T>G | |
| 7 | g.116783380G>A | CA164910969 | MET | c.*1314G>A (n.*1314G>A) c.3763G>A (p.Val1255Ile) c.3709G>A (p.Val1237Ile) c.2419G>A (p.Val807Ile) c.3766G>A (p.Val1256Ile) n.3840G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116783380G>C | CA368991681 | MET | c.*1314G>C (n.*1314G>C) c.3763G>C (p.Val1255Leu) c.3709G>C (p.Val1237Leu) c.2419G>C (p.Val807Leu) c.3766G>C (p.Val1256Leu) n.3840G>C | dbSNP |
| 7 | g.116783380G= | CA1737014461 | MET | c.*1314G= (n.*1314G=) c.3763G= (p.Val1255=) c.3709G= (p.Val1237=) c.2419G= (p.Val807=) c.3766G= (p.Val1256=) n.3840G= | |
| 7 | g.116783380G>T | CA368991684 | MET | c.*1314G>T (n.*1314G>T) c.3763G>T (p.Val1255Leu) c.3709G>T (p.Val1237Leu) c.2419G>T (p.Val807Leu) c.3766G>T (p.Val1256Leu) n.3840G>T | ClinVar |