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.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540211A= | CA1737332069 | CFTR | c.981A= (p.Leu327=) c.*878A= (n.*878A=) c.*805A= (n.*805A=) c.738A= (p.Leu246=) c.891A= (p.Leu297=) c.1071A= (p.Leu357=) | |
| 7 | g.117540211A>C | CA457448731 | CFTR | c.981A>C (p.Leu327=) c.*878A>C (n.*878A>C) c.*805A>C (n.*805A>C) c.738A>C (p.Leu246=) c.891A>C (p.Leu297=) c.1071A>C (p.Leu357=) | |
| 7 | g.117540211A>G | CA164953673 | CFTR | c.981A>G (p.Leu327=) c.*878A>G (n.*878A>G) c.*805A>G (n.*805A>G) c.738A>G (p.Leu246=) c.891A>G (p.Leu297=) c.1071A>G (p.Leu357=) | dbSNP |
| 7 | g.117540211A>T | CA164953674 | CFTR | c.981A>T (p.Leu327=) c.*878A>T (n.*878A>T) c.*805A>T (n.*805A>T) c.738A>T (p.Leu246=) c.891A>T (p.Leu297=) c.1071A>T (p.Leu357=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540212A>C | CA368978614 | CFTR | c.982A>C (p.Ile328Leu) c.*879A>C (n.*879A>C) c.*806A>C (n.*806A>C) c.739A>C (p.Ile247Leu) c.892A>C (p.Ile298Leu) c.1072A>C (p.Ile358Leu) | |
| 7 | g.117540212A>G | CA368978616 | CFTR | c.982A>G (p.Ile328Val) c.*879A>G (n.*879A>G) c.*806A>G (n.*806A>G) c.739A>G (p.Ile247Val) c.892A>G (p.Ile298Val) c.1072A>G (p.Ile358Val) | |
| 7 | g.117540212A>T | CA368978618 | CFTR | c.982A>T (p.Ile328Phe) c.*879A>T (n.*879A>T) c.*806A>T (n.*806A>T) c.739A>T (p.Ile247Phe) c.892A>T (p.Ile298Phe) c.1072A>T (p.Ile358Phe) | |
| 7 | g.117540213T>A | CA368978620 | CFTR | c.983T>A (p.Ile328Asn) c.*880T>A (n.*880T>A) c.*807T>A (n.*807T>A) c.740T>A (p.Ile247Asn) c.893T>A (p.Ile298Asn) c.1073T>A (p.Ile358Asn) | |
| 7 | g.117540213T>C | CA368978623 | CFTR | c.983T>C (p.Ile328Thr) c.*880T>C (n.*880T>C) c.*807T>C (n.*807T>C) c.740T>C (p.Ile247Thr) c.893T>C (p.Ile298Thr) c.1073T>C (p.Ile358Thr) | |
| 7 | g.117540213T>G | CA368978626 | CFTR | c.983T>G (p.Ile328Ser) c.*880T>G (n.*880T>G) c.*807T>G (n.*807T>G) c.740T>G (p.Ile247Ser) c.893T>G (p.Ile298Ser) c.1073T>G (p.Ile358Ser) | |
| 7 | g.117540214C>A | CA457448733 | CFTR | c.984C>A (p.Ile328=) c.*881C>A (n.*881C>A) c.*808C>A (n.*808C>A) c.741C>A (p.Ile247=) c.894C>A (p.Ile298=) c.1074C>A (p.Ile358=) | |
| 7 | g.117540214C>G | CA368978628 | CFTR | c.984C>G (p.Ile328Met) c.*881C>G (n.*881C>G) c.*808C>G (n.*808C>G) c.741C>G (p.Ile247Met) c.894C>G (p.Ile298Met) c.1074C>G (p.Ile358Met) | |
| 7 | g.117540214C>T | CA457448732 | CFTR | c.984C>T (p.Ile328=) c.*881C>T (n.*881C>T) c.*808C>T (n.*808C>T) c.741C>T (p.Ile247=) c.894C>T (p.Ile298=) c.1074C>T (p.Ile358=) | |
| 7 | g.117540214_117540215delinsCA | CA1737332075 | CFTR | c.984_985delinsCA (p.Ile328=) c.*881_*882delinsCA (n.*881_*882delinsCA) c.*808_*809delinsCA (n.*808_*809delinsCA) c.741_742delinsCA (p.Ile247=) c.894_895delinsCA (p.Ile298=) c.1074_1075delinsCA (p.Ile358=) | |
| 7 | g.117540215A>C | CA368978629 | CFTR | c.985A>C (p.Lys329Gln) c.*882A>C (n.*882A>C) c.*809A>C (n.*809A>C) c.742A>C (p.Lys248Gln) c.895A>C (p.Lys299Gln) c.1075A>C (p.Lys359Gln) | |
| 7 | g.117540215A>G | CA368978632 | CFTR | c.985A>G (p.Lys329Glu) c.*882A>G (n.*882A>G) c.*809A>G (n.*809A>G) c.742A>G (p.Lys248Glu) c.895A>G (p.Lys299Glu) c.1075A>G (p.Lys359Glu) | |
| 7 | g.117540215A>T | CA368978634 | CFTR | c.985A>T (p.Lys329Ter) c.*882A>T (n.*882A>T) c.*809A>T (n.*809A>T) c.742A>T (p.Lys248Ter) c.895A>T (p.Lys299Ter) c.1075A>T (p.Lys359Ter) | |
| 7 | g.117540217del | CA327708 | CFTR | c.987del (p.Gly330GlufsTer?) c.*884del (n.*884del) c.*811del (n.*811del) c.744del (p.Gly249GlufsTer?) c.897del (p.Gly300GlufsTer?) c.1077del (p.Gly360GlufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540216A>C | CA368978637 | CFTR | c.986A>C (p.Lys329Thr) c.*883A>C (n.*883A>C) c.*810A>C (n.*810A>C) c.743A>C (p.Lys248Thr) c.896A>C (p.Lys299Thr) c.1076A>C (p.Lys359Thr) | |
| 7 | g.117540216A>G | CA368978639 | CFTR | c.986A>G (p.Lys329Arg) c.*883A>G (n.*883A>G) c.*810A>G (n.*810A>G) c.743A>G (p.Lys248Arg) c.896A>G (p.Lys299Arg) c.1076A>G (p.Lys359Arg) | |
| 7 | g.117540216A>T | CA368978641 | CFTR | c.986A>T (p.Lys329Ile) c.*883A>T (n.*883A>T) c.*810A>T (n.*810A>T) c.743A>T (p.Lys248Ile) c.896A>T (p.Lys299Ile) c.1076A>T (p.Lys359Ile) | |
| 7 | g.117540217A>C | CA368978642 | CFTR | c.987A>C (p.Lys329Asn) c.*884A>C (n.*884A>C) c.*811A>C (n.*811A>C) c.744A>C (p.Lys248Asn) c.897A>C (p.Lys299Asn) c.1077A>C (p.Lys359Asn) | |
| 7 | g.117540217A>G | CA457448734 | CFTR | c.987A>G (p.Lys329=) c.*884A>G (n.*884A>G) c.*811A>G (n.*811A>G) c.744A>G (p.Lys248=) c.897A>G (p.Lys299=) c.1077A>G (p.Lys359=) | gnomAD v4 |
| 7 | g.117540217A>T | CA368978644 | CFTR | c.987A>T (p.Lys329Asn) c.*884A>T (n.*884A>T) c.*811A>T (n.*811A>T) c.744A>T (p.Lys248Asn) c.897A>T (p.Lys299Asn) c.1077A>T (p.Lys359Asn) | |
| 7 | g.117540218G>A | CA368978655 | CFTR | c.988G>A (p.Gly330Arg) c.*885G>A (n.*885G>A) c.*812G>A (n.*812G>A) c.745G>A (p.Gly249Arg) c.898G>A (p.Gly300Arg) c.1078G>A (p.Gly360Arg) | gnomAD v4 |
| 7 | g.117540218G>C | CA368978652 | CFTR | c.988G>C (p.Gly330Arg) c.*885G>C (n.*885G>C) c.*812G>C (n.*812G>C) c.745G>C (p.Gly249Arg) c.898G>C (p.Gly300Arg) c.1078G>C (p.Gly360Arg) | |
| 7 | g.117540218G= | CA1737332081 | CFTR | c.988G= (p.Gly330=) c.*885G= (n.*885G=) c.*812G= (n.*812G=) c.745G= (p.Gly249=) c.898G= (p.Gly300=) c.1078G= (p.Gly360=) | |
| 7 | g.117540218G>T | CA328133 | CFTR | c.988G>T (p.Gly330Ter) c.*885G>T (n.*885G>T) c.*812G>T (n.*812G>T) c.745G>T (p.Gly249Ter) c.898G>T (p.Gly300Ter) c.1078G>T (p.Gly360Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540219dup | CA2695199633 | CFTR | c.989dup (p.Ile331AsnfsTer?) c.*886dup (n.*886dup) c.*813dup (n.*813dup) c.746dup (p.Ile250AsnfsTer?) c.899dup (p.Ile301AsnfsTer?) c.1079dup (p.Ile361AsnfsTer?) | ClinVar |
| 7 | g.117540219G>A | CA368978658 | CFTR | c.989G>A (p.Gly330Glu) c.*886G>A (n.*886G>A) c.*813G>A (n.*813G>A) c.746G>A (p.Gly249Glu) c.899G>A (p.Gly300Glu) c.1079G>A (p.Gly360Glu) | COSMIC |
| 7 | g.117540219G>C | CA368978660 | CFTR | c.989G>C (p.Gly330Ala) c.*886G>C (n.*886G>C) c.*813G>C (n.*813G>C) c.746G>C (p.Gly249Ala) c.899G>C (p.Gly300Ala) c.1079G>C (p.Gly360Ala) | |
| 7 | g.117540219G>T | CA368978662 | CFTR | c.989G>T (p.Gly330Val) c.*886G>T (n.*886G>T) c.*813G>T (n.*813G>T) c.746G>T (p.Gly249Val) c.899G>T (p.Gly300Val) c.1079G>T (p.Gly360Val) | gnomAD v4 |
| 7 | g.117540220A>C | CA457448735 | CFTR | c.990A>C (p.Gly330=) c.*887A>C (n.*887A>C) c.*814A>C (n.*814A>C) c.747A>C (p.Gly249=) c.900A>C (p.Gly300=) c.1080A>C (p.Gly360=) | |
| 7 | g.117540220A>G | CA457448736 | CFTR | c.990A>G (p.Gly330=) c.*887A>G (n.*887A>G) c.*814A>G (n.*814A>G) c.747A>G (p.Gly249=) c.900A>G (p.Gly300=) c.1080A>G (p.Gly360=) | |
| 7 | g.117540220A>T | CA457448737 | CFTR | c.990A>T (p.Gly330=) c.*887A>T (n.*887A>T) c.*814A>T (n.*814A>T) c.747A>T (p.Gly249=) c.900A>T (p.Gly300=) c.1080A>T (p.Gly360=) | |
| 7 | g.117540221A= | CA1737332084 | CFTR | c.991A= (p.Ile331=) c.*888A= (n.*888A=) c.*815A= (n.*815A=) c.748A= (p.Ile250=) c.901A= (p.Ile301=) c.1081A= (p.Ile361=) | |
| 7 | g.117540221A>C | CA368978665 | CFTR | c.991A>C (p.Ile331Leu) c.*888A>C (n.*888A>C) c.*815A>C (n.*815A>C) c.748A>C (p.Ile250Leu) c.901A>C (p.Ile301Leu) c.1081A>C (p.Ile361Leu) | |
| 7 | g.117540221A>G | CA368978667 | CFTR | c.991A>G (p.Ile331Val) c.*888A>G (n.*888A>G) c.*815A>G (n.*815A>G) c.748A>G (p.Ile250Val) c.901A>G (p.Ile301Val) c.1081A>G (p.Ile361Val) | |
| 7 | g.117540221A>T | CA368978669 | CFTR | c.991A>T (p.Ile331Phe) c.*888A>T (n.*888A>T) c.*815A>T (n.*815A>T) c.748A>T (p.Ile250Phe) c.901A>T (p.Ile301Phe) c.1081A>T (p.Ile361Phe) | ClinVar dbSNP |
| 7 | g.117540222T>A | CA327709 | CFTR | c.992T>A (p.Ile331Asn) c.*889T>A (n.*889T>A) c.*816T>A (n.*816T>A) c.749T>A (p.Ile250Asn) c.902T>A (p.Ile301Asn) c.1082T>A (p.Ile361Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117540222T>C | CA368978676 | CFTR | c.992T>C (p.Ile331Thr) c.*889T>C (n.*889T>C) c.*816T>C (n.*816T>C) c.749T>C (p.Ile250Thr) c.902T>C (p.Ile301Thr) c.1082T>C (p.Ile361Thr) | gnomAD v4 COSMIC |
| 7 | g.117540222T>G | CA368978673 | CFTR | c.992T>G (p.Ile331Ser) c.*889T>G (n.*889T>G) c.*816T>G (n.*816T>G) c.749T>G (p.Ile250Ser) c.902T>G (p.Ile301Ser) c.1082T>G (p.Ile361Ser) | |
| 7 | g.117540222T= | CA1737332087 | CFTR | c.992T= (p.Ile331=) c.*889T= (n.*889T=) c.*816T= (n.*816T=) c.749T= (p.Ile250=) c.902T= (p.Ile301=) c.1082T= (p.Ile361=) | |
| 7 | g.117540223C>A | CA457448738 | CFTR | c.993C>A (p.Ile331=) c.*890C>A (n.*890C>A) c.*817C>A (n.*817C>A) c.750C>A (p.Ile250=) c.903C>A (p.Ile301=) c.1083C>A (p.Ile361=) | |
| 7 | g.117540223C>G | CA368978678 | CFTR | c.993C>G (p.Ile331Met) c.*890C>G (n.*890C>G) c.*817C>G (n.*817C>G) c.750C>G (p.Ile250Met) c.903C>G (p.Ile301Met) c.1083C>G (p.Ile361Met) | |
| 7 | g.117540223C>T | CA457448739 | CFTR | c.993C>T (p.Ile331=) c.*890C>T (n.*890C>T) c.*817C>T (n.*817C>T) c.750C>T (p.Ile250=) c.903C>T (p.Ile301=) c.1083C>T (p.Ile361=) | ClinVar dbSNP |
| 7 | g.117540224A>C | CA368978679 | CFTR | c.994A>C (p.Ile332Leu) c.*891A>C (n.*891A>C) c.*818A>C (n.*818A>C) c.751A>C (p.Ile251Leu) c.904A>C (p.Ile302Leu) c.1084A>C (p.Ile362Leu) | |
| 7 | g.117540224A>G | CA368978682 | CFTR | c.994A>G (p.Ile332Val) c.*891A>G (n.*891A>G) c.*818A>G (n.*818A>G) c.751A>G (p.Ile251Val) c.904A>G (p.Ile302Val) c.1084A>G (p.Ile362Val) |