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 |
|---|---|---|---|---|---|
| 19 | g.18075805_18075821dup | CA2695228486 | IL12RB1 | c.628_644dup (p.Gly216SerfsTer32) c.748_764dup (p.Gly256SerfsTer32) c.760_776dup (p.Gly260SerfsTer29) c.748_764dup (p.Gly256SerfsTer29) c.760_776dup (p.Gly260SerfsTer32) c.640_656dup (p.Gly220SerfsTer29) c.628_644dup (p.Gly216SerfsTer29) c.25_41dup (p.Gly15SerfsTer29) | |
| 19 | g.18075818G>A | CA9305135 | IL12RB1 | c.631C>T (p.Arg211Ter) c.751C>T (p.Arg251Ter) c.763C>T (p.Arg255Ter) c.643C>T (p.Arg215Ter) c.28C>T (p.Arg10Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.18075818G>C | CA404781613 | IL12RB1 | c.631C>G (p.Arg211Gly) c.751C>G (p.Arg251Gly) c.763C>G (p.Arg255Gly) c.643C>G (p.Arg215Gly) c.28C>G (p.Arg10Gly) | |
| 19 | g.18075818G= | CA2326172944 | IL12RB1 | c.631C= (p.Arg211=) c.751C= (p.Arg251=) c.763C= (p.Arg255=) c.643C= (p.Arg215=) c.28C= (p.Arg10=) | |
| 19 | g.18075818G>T | CA506032523 | IL12RB1 | c.631C>A (p.Arg211=) c.751C>A (p.Arg251=) c.763C>A (p.Arg255=) c.643C>A (p.Arg215=) c.28C>A (p.Arg10=) | gnomAD v4 |
| 19 | g.18075819G>A | CA506032525 | IL12RB1 | c.630C>T (p.Leu210=) c.750C>T (p.Leu250=) c.762C>T (p.Leu254=) c.642C>T (p.Leu214=) c.27C>T (p.Leu9=) | COSMIC COSMIC COSMIC |
| 19 | g.18075819G>C | CA506032527 | IL12RB1 | c.630C>G (p.Leu210=) c.750C>G (p.Leu250=) c.762C>G (p.Leu254=) c.642C>G (p.Leu214=) c.27C>G (p.Leu9=) | |
| 19 | g.18075819G>T | CA506032530 | IL12RB1 | c.630C>A (p.Leu210=) c.750C>A (p.Leu250=) c.762C>A (p.Leu254=) c.642C>A (p.Leu214=) c.27C>A (p.Leu9=) | |
| 19 | g.18075820A>C | CA404781616 | IL12RB1 | c.629T>G (p.Leu210Arg) c.749T>G (p.Leu250Arg) c.761T>G (p.Leu254Arg) c.641T>G (p.Leu214Arg) c.26T>G (p.Leu9Arg) | |
| 19 | g.18075820A>G | CA404781618 | IL12RB1 | c.629T>C (p.Leu210Pro) c.749T>C (p.Leu250Pro) c.761T>C (p.Leu254Pro) c.641T>C (p.Leu214Pro) c.26T>C (p.Leu9Pro) | |
| 19 | g.18075820A>T | CA404781620 | IL12RB1 | c.629T>A (p.Leu210His) c.749T>A (p.Leu250His) c.761T>A (p.Leu254His) c.641T>A (p.Leu214His) c.26T>A (p.Leu9His) | |
| 19 | g.18075821G>A | CA404781623 | IL12RB1 | c.628C>T (p.Leu210Phe) c.748C>T (p.Leu250Phe) c.760C>T (p.Leu254Phe) c.640C>T (p.Leu214Phe) c.25C>T (p.Leu9Phe) | |
| 19 | g.18075821G>C | CA404781625 | IL12RB1 | c.628C>G (p.Leu210Val) c.748C>G (p.Leu250Val) c.760C>G (p.Leu254Val) c.640C>G (p.Leu214Val) c.25C>G (p.Leu9Val) | |
| 19 | g.18075821G>T | CA404781628 | IL12RB1 | c.628C>A (p.Leu210Ile) c.748C>A (p.Leu250Ile) c.760C>A (p.Leu254Ile) c.640C>A (p.Leu214Ile) c.25C>A (p.Leu9Ile) | |
| 19 | g.18075822C>A | CA404781630 | IL12RB1 | c.627G>T (p.Gln209His) c.747G>T (p.Gln249His) c.759G>T (p.Gln253His) c.639G>T (p.Gln213His) c.24G>T (p.Gln8His) | |
| 19 | g.18075822C>G | CA404781632 | IL12RB1 | c.627G>C (p.Gln209His) c.747G>C (p.Gln249His) c.759G>C (p.Gln253His) c.639G>C (p.Gln213His) c.24G>C (p.Gln8His) | |
| 19 | g.18075822C>T | CA506032546 | IL12RB1 | c.627G>A (p.Gln209=) c.747G>A (p.Gln249=) c.759G>A (p.Gln253=) c.639G>A (p.Gln213=) c.24G>A (p.Gln8=) | |
| 19 | g.18075823T>A | CA404781639 | IL12RB1 | c.626A>T (p.Gln209Leu) c.746A>T (p.Gln249Leu) c.758A>T (p.Gln253Leu) c.638A>T (p.Gln213Leu) c.23A>T (p.Gln8Leu) | |
| 19 | g.18075823T>C | CA404781635 | IL12RB1 | c.626A>G (p.Gln209Arg) c.746A>G (p.Gln249Arg) c.758A>G (p.Gln253Arg) c.638A>G (p.Gln213Arg) c.23A>G (p.Gln8Arg) | |
| 19 | g.18075823T>G | CA404781637 | IL12RB1 | c.626A>C (p.Gln209Pro) c.746A>C (p.Gln249Pro) c.758A>C (p.Gln253Pro) c.638A>C (p.Gln213Pro) c.23A>C (p.Gln8Pro) | |
| 19 | g.18075824G>A | CA404781642 | IL12RB1 | c.625C>T (p.Gln209Ter) c.745C>T (p.Gln249Ter) c.757C>T (p.Gln253Ter) c.637C>T (p.Gln213Ter) c.22C>T (p.Gln8Ter) | |
| 19 | g.18075824G>C | CA404781645 | IL12RB1 | c.625C>G (p.Gln209Glu) c.745C>G (p.Gln249Glu) c.757C>G (p.Gln253Glu) c.637C>G (p.Gln213Glu) c.22C>G (p.Gln8Glu) | |
| 19 | g.18075824G>T | CA404781650 | IL12RB1 | c.625C>A (p.Gln209Lys) c.745C>A (p.Gln249Lys) c.757C>A (p.Gln253Lys) c.637C>A (p.Gln213Lys) c.22C>A (p.Gln8Lys) | |
| 19 | g.18075825G>A | CA506032561 | IL12RB1 | c.624C>T (p.Phe208=) c.744C>T (p.Phe248=) c.756C>T (p.Phe252=) c.636C>T (p.Phe212=) c.21C>T (p.Phe7=) | gnomAD v4 |
| 19 | g.18075825G>C | CA404781652 | IL12RB1 | c.624C>G (p.Phe208Leu) c.744C>G (p.Phe248Leu) c.756C>G (p.Phe252Leu) c.636C>G (p.Phe212Leu) c.21C>G (p.Phe7Leu) | |
| 19 | g.18075825G>T | CA404781653 | IL12RB1 | c.624C>A (p.Phe208Leu) c.744C>A (p.Phe248Leu) c.756C>A (p.Phe252Leu) c.636C>A (p.Phe212Leu) c.21C>A (p.Phe7Leu) | |
| 19 | g.18075826A= | CA2326172946 | IL12RB1 | c.623T= (p.Phe208=) c.743T= (p.Phe248=) c.755T= (p.Phe252=) c.635T= (p.Phe212=) c.20T= (p.Phe7=) | |
| 19 | g.18075826A>C | CA404781657 | IL12RB1 | c.623T>G (p.Phe208Cys) c.743T>G (p.Phe248Cys) c.755T>G (p.Phe252Cys) c.635T>G (p.Phe212Cys) c.20T>G (p.Phe7Cys) | |
| 19 | g.18075826A>G | CA404781660 | IL12RB1 | c.623T>C (p.Phe208Ser) c.743T>C (p.Phe248Ser) c.755T>C (p.Phe252Ser) c.635T>C (p.Phe212Ser) c.20T>C (p.Phe7Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18075826A>T | CA404781663 | IL12RB1 | c.623T>A (p.Phe208Tyr) c.743T>A (p.Phe248Tyr) c.755T>A (p.Phe252Tyr) c.635T>A (p.Phe212Tyr) c.20T>A (p.Phe7Tyr) | |
| 19 | g.18075827A>C | CA404781666 | IL12RB1 | c.622T>G (p.Phe208Val) c.742T>G (p.Phe248Val) c.754T>G (p.Phe252Val) c.634T>G (p.Phe212Val) c.19T>G (p.Phe7Val) | |
| 19 | g.18075827A>G | CA404781668 | IL12RB1 | c.622T>C (p.Phe208Leu) c.742T>C (p.Phe248Leu) c.754T>C (p.Phe252Leu) c.634T>C (p.Phe212Leu) c.19T>C (p.Phe7Leu) | |
| 19 | g.18075827A>T | CA404781671 | IL12RB1 | c.622T>A (p.Phe208Ile) c.742T>A (p.Phe248Ile) c.754T>A (p.Phe252Ile) c.634T>A (p.Phe212Ile) c.19T>A (p.Phe7Ile) | |
| 19 | g.18075828T>A | CA404781673 | IL12RB1 | c.621A>T (p.Glu207Asp) c.741A>T (p.Glu247Asp) c.753A>T (p.Glu251Asp) c.633A>T (p.Glu211Asp) c.18A>T (p.Glu6Asp) | COSMIC COSMIC |
| 19 | g.18075828T>C | CA506032574 | IL12RB1 | c.621A>G (p.Glu207=) c.741A>G (p.Glu247=) c.753A>G (p.Glu251=) c.633A>G (p.Glu211=) c.18A>G (p.Glu6=) | |
| 19 | g.18075828T>G | CA404781676 | IL12RB1 | c.621A>C (p.Glu207Asp) c.741A>C (p.Glu247Asp) c.753A>C (p.Glu251Asp) c.633A>C (p.Glu211Asp) c.18A>C (p.Glu6Asp) | |
| 19 | g.18075829T>A | CA404781685 | IL12RB1 | c.620A>T (p.Glu207Val) c.740A>T (p.Glu247Val) c.752A>T (p.Glu251Val) c.632A>T (p.Glu211Val) c.17A>T (p.Glu6Val) | |
| 19 | g.18075829T>C | CA404781688 | IL12RB1 | c.620A>G (p.Glu207Gly) c.740A>G (p.Glu247Gly) c.752A>G (p.Glu251Gly) c.632A>G (p.Glu211Gly) c.17A>G (p.Glu6Gly) | |
| 19 | g.18075829T>G | CA404781678 | IL12RB1 | c.620A>C (p.Glu207Ala) c.740A>C (p.Glu247Ala) c.752A>C (p.Glu251Ala) c.632A>C (p.Glu211Ala) c.17A>C (p.Glu6Ala) | |
| 19 | g.18075830C>A | CA404781692 | IL12RB1 | c.619G>T (p.Glu207Ter) c.739G>T (p.Glu247Ter) c.751G>T (p.Glu251Ter) c.631G>T (p.Glu211Ter) c.16G>T (p.Glu6Ter) | |
| 19 | g.18075830C>G | CA404781690 | IL12RB1 | c.619G>C (p.Glu207Gln) c.739G>C (p.Glu247Gln) c.751G>C (p.Glu251Gln) c.631G>C (p.Glu211Gln) c.16G>C (p.Glu6Gln) | |
| 19 | g.18075830C>T | CA404781695 | IL12RB1 | c.619G>A (p.Glu207Lys) c.739G>A (p.Glu247Lys) c.751G>A (p.Glu251Lys) c.631G>A (p.Glu211Lys) c.16G>A (p.Glu6Lys) | |
| 19 | g.18075831C>A | CA404781699 | IL12RB1 | c.618G>T (p.Gln206His) c.738G>T (p.Gln246His) c.750G>T (p.Gln250His) c.630G>T (p.Gln210His) c.15G>T (p.Gln5His) | COSMIC COSMIC COSMIC |
| 19 | g.18075831C>G | CA404781702 | IL12RB1 | c.618G>C (p.Gln206His) c.738G>C (p.Gln246His) c.750G>C (p.Gln250His) c.630G>C (p.Gln210His) c.15G>C (p.Gln5His) | |
| 19 | g.18075831C>T | CA506032589 | IL12RB1 | c.618G>A (p.Gln206=) c.738G>A (p.Gln246=) c.750G>A (p.Gln250=) c.630G>A (p.Gln210=) c.15G>A (p.Gln5=) | gnomAD v4 |
| 19 | g.18075832T>A | CA404781705 | IL12RB1 | c.617A>T (p.Gln206Leu) c.737A>T (p.Gln246Leu) c.749A>T (p.Gln250Leu) c.629A>T (p.Gln210Leu) c.14A>T (p.Gln5Leu) | |
| 19 | g.18075832T>C | CA404781712 | IL12RB1 | c.617A>G (p.Gln206Arg) c.737A>G (p.Gln246Arg) c.749A>G (p.Gln250Arg) c.629A>G (p.Gln210Arg) c.14A>G (p.Gln5Arg) | |
| 19 | g.18075832T>G | CA404781715 | IL12RB1 | c.617A>C (p.Gln206Pro) c.737A>C (p.Gln246Pro) c.749A>C (p.Gln250Pro) c.629A>C (p.Gln210Pro) c.14A>C (p.Gln5Pro) | |
| 19 | g.18075833G>A | CA404781718 | IL12RB1 | c.616C>T (p.Gln206Ter) c.736C>T (p.Gln246Ter) c.748C>T (p.Gln250Ter) c.628C>T (p.Gln210Ter) c.13C>T (p.Gln5Ter) | |
| 19 | g.18075833G>C | CA404781721 | IL12RB1 | c.616C>G (p.Gln206Glu) c.736C>G (p.Gln246Glu) c.748C>G (p.Gln250Glu) c.628C>G (p.Gln210Glu) c.13C>G (p.Gln5Glu) |