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 |
|---|---|---|---|---|---|
| 1 | g.61914634G>A | CA417994084 | PATJ | c.3540G>A (p.Gln1180=) c.3491-3390G>A (n.3491-3390G>A) n.3654G>A c.1917G>A (p.Gln639=) c.76G>A c.3381+13175G>A (n.3381+13175G>A) c.*1508G>A (n.*1508G>A) c.2631G>A (p.Gln877=) c.705G>A (p.Gln235=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.61914634G>C | CA340548475 | PATJ | c.3540G>C (p.Gln1180His) c.3491-3390G>C (n.3491-3390G>C) n.3654G>C c.1917G>C (p.Gln639His) c.76G>C c.3381+13175G>C (n.3381+13175G>C) c.*1508G>C (n.*1508G>C) c.2631G>C (p.Gln877His) c.705G>C (p.Gln235His) | gnomAD v4 |
| 1 | g.61914634G= | CA1170862922 | PATJ | c.3540G= (p.Gln1180=) c.3491-3390G= (n.3491-3390G=) n.3654G= c.1917G= (p.Gln639=) c.76G= c.3381+13175G= (n.3381+13175G=) c.*1508G= (n.*1508G=) c.2631G= (p.Gln877=) c.705G= (p.Gln235=) | |
| 1 | g.61914634G>T | CA340548476 | PATJ | c.3540G>T (p.Gln1180His) c.3491-3390G>T (n.3491-3390G>T) n.3654G>T c.1917G>T (p.Gln639His) c.76G>T c.3381+13175G>T (n.3381+13175G>T) c.*1508G>T (n.*1508G>T) c.2631G>T (p.Gln877His) c.705G>T (p.Gln235His) | |
| 1 | g.61914635A>C | CA340548478 | PATJ | c.3541A>C (p.Asn1181His) c.3491-3389A>C (n.3491-3389A>C) n.3655A>C c.1918A>C (p.Asn640His) c.77A>C c.3381+13176A>C (n.3381+13176A>C) c.*1509A>C (n.*1509A>C) c.2632A>C (p.Asn878His) c.706A>C (p.Asn236His) | |
| 1 | g.61914635A>G | CA340548479 | PATJ | c.3541A>G (p.Asn1181Asp) c.3491-3389A>G (n.3491-3389A>G) n.3655A>G c.1918A>G (p.Asn640Asp) c.77A>G c.3381+13176A>G (n.3381+13176A>G) c.*1509A>G (n.*1509A>G) c.2632A>G (p.Asn878Asp) c.706A>G (p.Asn236Asp) | |
| 1 | g.61914635A>T | CA340548477 | PATJ | c.3541A>T (p.Asn1181Tyr) c.3491-3389A>T (n.3491-3389A>T) n.3655A>T c.1918A>T (p.Asn640Tyr) c.77A>T c.3381+13176A>T (n.3381+13176A>T) c.*1509A>T (n.*1509A>T) c.2632A>T (p.Asn878Tyr) c.706A>T (p.Asn236Tyr) | |
| 1 | g.61914636A>C | CA340548480 | PATJ | c.3542A>C (p.Asn1181Thr) c.3491-3388A>C (n.3491-3388A>C) n.3656A>C c.1919A>C (p.Asn640Thr) c.78A>C c.3381+13177A>C (n.3381+13177A>C) c.*1510A>C (n.*1510A>C) c.2633A>C (p.Asn878Thr) c.707A>C (p.Asn236Thr) | gnomAD v4 |
| 1 | g.61914636A>G | CA340548481 | PATJ | c.3542A>G (p.Asn1181Ser) c.3491-3388A>G (n.3491-3388A>G) n.3656A>G c.1919A>G (p.Asn640Ser) c.78A>G c.3381+13177A>G (n.3381+13177A>G) c.*1510A>G (n.*1510A>G) c.2633A>G (p.Asn878Ser) c.707A>G (p.Asn236Ser) | gnomAD v4 |
| 1 | g.61914636A>T | CA340548482 | PATJ | c.3542A>T (p.Asn1181Ile) c.3491-3388A>T (n.3491-3388A>T) n.3656A>T c.1919A>T (p.Asn640Ile) c.78A>T c.3381+13177A>T (n.3381+13177A>T) c.*1510A>T (n.*1510A>T) c.2633A>T (p.Asn878Ile) c.707A>T (p.Asn236Ile) | |
| 1 | g.61914637C>A | CA882657 | PATJ | c.3543C>A (p.Asn1181Lys) c.3491-3387C>A (n.3491-3387C>A) n.3657C>A c.1920C>A (p.Asn640Lys) c.79C>A c.3381+13178C>A (n.3381+13178C>A) c.*1511C>A (n.*1511C>A) c.2634C>A (p.Asn878Lys) c.708C>A (p.Asn236Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.61914637C= | CA1144708892 | PATJ | c.3543C= (p.Asn1181=) c.3491-3387C= (n.3491-3387C=) n.3657C= c.1920C= (p.Asn640=) c.79C= c.3381+13178C= (n.3381+13178C=) c.*1511C= (n.*1511C=) c.2634C= (p.Asn878=) c.708C= (p.Asn236=) | |
| 1 | g.61914637C>G | CA340548483 | PATJ | c.3543C>G (p.Asn1181Lys) c.3491-3387C>G (n.3491-3387C>G) n.3657C>G c.1920C>G (p.Asn640Lys) c.79C>G c.3381+13178C>G (n.3381+13178C>G) c.*1511C>G (n.*1511C>G) c.2634C>G (p.Asn878Lys) c.708C>G (p.Asn236Lys) | |
| 1 | g.61914637C>T | CA417994088 | PATJ | c.3543C>T (p.Asn1181=) c.3491-3387C>T (n.3491-3387C>T) n.3657C>T c.1920C>T (p.Asn640=) c.79C>T c.3381+13178C>T (n.3381+13178C>T) c.*1511C>T (n.*1511C>T) c.2634C>T (p.Asn878=) c.708C>T (p.Asn236=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.61914638del | CA2645959048 | PATJ | c.3544del (p.Gln1182ArgfsTer18) c.3491-3386del (n.3491-3386del) n.3658del c.1921del (p.Gln641ArgfsTer18) c.80del c.3381+13179del (n.3381+13179del) c.*1512del (n.*1512del) c.2635del (p.Gln879ArgfsTer18) c.709del (p.Gln237ArgfsTer18) | gnomAD v4 |
| 1 | g.61914637_61914638insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG | CA2743848297 | PATJ | c.3543_3544insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (p.Gln1182LysfsTer11) c.3491-3387_3491-3386insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (n.3491-3387_3491-3386insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG) n.3657_3658insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG c.1920_1921insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (p.Gln641LysfsTer11) c.79_80insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG c.3381+13178_3381+13179insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (n.3381+13178_3381+13179insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG) c.*1511_*1512insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (n.*1511_*1512insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG) c.2634_2635insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (p.Gln879LysfsTer11) c.708_709insAAATGCTGCACTGACGGAATTATTAAAGCCTAGTAATCAATCTTTTTTCCTGATAGAG (p.Gln237LysfsTer11) | |
| 1 | g.61914638C>A | CA340548484 | PATJ | c.3544C>A (p.Gln1182Lys) c.3491-3386C>A (n.3491-3386C>A) n.3658C>A c.1921C>A (p.Gln641Lys) c.80C>A c.3381+13179C>A (n.3381+13179C>A) c.*1512C>A (n.*1512C>A) c.2635C>A (p.Gln879Lys) c.709C>A (p.Gln237Lys) | gnomAD v4 |
| 1 | g.61914638C= | CA1170862923 | PATJ | c.3544C= (p.Gln1182=) c.3491-3386C= (n.3491-3386C=) n.3658C= c.1921C= (p.Gln641=) c.80C= c.3381+13179C= (n.3381+13179C=) c.*1512C= (n.*1512C=) c.2635C= (p.Gln879=) c.709C= (p.Gln237=) | |
| 1 | g.61914638C>G | CA340548485 | PATJ | c.3544C>G (p.Gln1182Glu) c.3491-3386C>G (n.3491-3386C>G) n.3658C>G c.1921C>G (p.Gln641Glu) c.80C>G c.3381+13179C>G (n.3381+13179C>G) c.*1512C>G (n.*1512C>G) c.2635C>G (p.Gln879Glu) c.709C>G (p.Gln237Glu) | |
| 1 | g.61914638C>T | CA23654175 | PATJ | c.3544C>T (p.Gln1182Ter) c.3491-3386C>T (n.3491-3386C>T) n.3658C>T c.1921C>T (p.Gln641Ter) c.80C>T c.3381+13179C>T (n.3381+13179C>T) c.*1512C>T (n.*1512C>T) c.2635C>T (p.Gln879Ter) c.709C>T (p.Gln237Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.61914639A= | CA1170862924 | PATJ | c.3545A= (p.Gln1182=) c.3491-3385A= (n.3491-3385A=) n.3659A= c.1922A= (p.Gln641=) c.81A= c.3381+13180A= (n.3381+13180A=) c.*1513A= (n.*1513A=) c.2636A= (p.Gln879=) c.710A= (p.Gln237=) | |
| 1 | g.61914639A>C | CA340548486 | PATJ | c.3545A>C (p.Gln1182Pro) c.3491-3385A>C (n.3491-3385A>C) n.3659A>C c.1922A>C (p.Gln641Pro) c.81A>C c.3381+13180A>C (n.3381+13180A>C) c.*1513A>C (n.*1513A>C) c.2636A>C (p.Gln879Pro) c.710A>C (p.Gln237Pro) | gnomAD v4 |
| 1 | g.61914639A>G | CA23654179 | PATJ | c.3545A>G (p.Gln1182Arg) c.3491-3385A>G (n.3491-3385A>G) n.3659A>G c.1922A>G (p.Gln641Arg) c.81A>G c.3381+13180A>G (n.3381+13180A>G) c.*1513A>G (n.*1513A>G) c.2636A>G (p.Gln879Arg) c.710A>G (p.Gln237Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.61914639A>T | CA340548487 | PATJ | c.3545A>T (p.Gln1182Leu) c.3491-3385A>T (n.3491-3385A>T) n.3659A>T c.1922A>T (p.Gln641Leu) c.81A>T c.3381+13180A>T (n.3381+13180A>T) c.*1513A>T (n.*1513A>T) c.2636A>T (p.Gln879Leu) c.710A>T (p.Gln237Leu) | |
| 1 | g.61914640G>A | CA417994092 | PATJ | c.3546G>A (p.Gln1182=) c.3491-3384G>A (n.3491-3384G>A) n.3660G>A c.1923G>A (p.Gln641=) c.82G>A c.3381+13181G>A (n.3381+13181G>A) c.*1514G>A (n.*1514G>A) c.2637G>A (p.Gln879=) c.711G>A (p.Gln237=) | gnomAD v4 |
| 1 | g.61914640G>C | CA340548488 | PATJ | c.3546G>C (p.Gln1182His) c.3491-3384G>C (n.3491-3384G>C) n.3660G>C c.1923G>C (p.Gln641His) c.82G>C c.3381+13181G>C (n.3381+13181G>C) c.*1514G>C (n.*1514G>C) c.2637G>C (p.Gln879His) c.711G>C (p.Gln237His) | gnomAD v4 |
| 1 | g.61914640G>T | CA340548489 | PATJ | c.3546G>T (p.Gln1182His) c.3491-3384G>T (n.3491-3384G>T) n.3660G>T c.1923G>T (p.Gln641His) c.82G>T c.3381+13181G>T (n.3381+13181G>T) c.*1514G>T (n.*1514G>T) c.2637G>T (p.Gln879His) c.711G>T (p.Gln237His) | gnomAD v4 |
| 1 | g.61914641G>A | CA340548490 | PATJ | c.3547G>A (p.Asp1183Asn) c.3491-3383G>A (n.3491-3383G>A) n.3661G>A c.1924G>A (p.Asp642Asn) c.83G>A c.3381+13182G>A (n.3381+13182G>A) c.*1515G>A (n.*1515G>A) c.2638G>A (p.Asp880Asn) c.712G>A (p.Asp238Asn) | |
| 1 | g.61914641G>C | CA340548492 | PATJ | c.3547G>C (p.Asp1183His) c.3491-3383G>C (n.3491-3383G>C) n.3661G>C c.1924G>C (p.Asp642His) c.83G>C c.3381+13182G>C (n.3381+13182G>C) c.*1515G>C (n.*1515G>C) c.2638G>C (p.Asp880His) c.712G>C (p.Asp238His) | |
| 1 | g.61914641G>T | CA340548491 | PATJ | c.3547G>T (p.Asp1183Tyr) c.3491-3383G>T (n.3491-3383G>T) n.3661G>T c.1924G>T (p.Asp642Tyr) c.83G>T c.3381+13182G>T (n.3381+13182G>T) c.*1515G>T (n.*1515G>T) c.2638G>T (p.Asp880Tyr) c.712G>T (p.Asp238Tyr) | gnomAD v4 |
| 1 | g.61914642A>C | CA340548493 | PATJ | c.3548A>C (p.Asp1183Ala) c.3491-3382A>C (n.3491-3382A>C) n.3662A>C c.1925A>C (p.Asp642Ala) c.84A>C c.3381+13183A>C (n.3381+13183A>C) c.*1516A>C (n.*1516A>C) c.2639A>C (p.Asp880Ala) c.713A>C (p.Asp238Ala) | |
| 1 | g.61914642A>G | CA340548494 | PATJ | c.3548A>G (p.Asp1183Gly) c.3491-3382A>G (n.3491-3382A>G) n.3662A>G c.1925A>G (p.Asp642Gly) c.84A>G c.3381+13183A>G (n.3381+13183A>G) c.*1516A>G (n.*1516A>G) c.2639A>G (p.Asp880Gly) c.713A>G (p.Asp238Gly) | gnomAD v4 |
| 1 | g.61914642A>T | CA340548495 | PATJ | c.3548A>T (p.Asp1183Val) c.3491-3382A>T (n.3491-3382A>T) n.3662A>T c.1925A>T (p.Asp642Val) c.84A>T c.3381+13183A>T (n.3381+13183A>T) c.*1516A>T (n.*1516A>T) c.2639A>T (p.Asp880Val) c.713A>T (p.Asp238Val) | |
| 1 | g.61914643C>A | CA340548496 | PATJ | c.3549C>A (p.Asp1183Glu) c.3491-3381C>A (n.3491-3381C>A) n.3663C>A c.1926C>A (p.Asp642Glu) c.85C>A c.3381+13184C>A (n.3381+13184C>A) c.*1517C>A (n.*1517C>A) c.2640C>A (p.Asp880Glu) c.714C>A (p.Asp238Glu) | gnomAD v4 |
| 1 | g.61914643C>G | CA340548497 | PATJ | c.3549C>G (p.Asp1183Glu) c.3491-3381C>G (n.3491-3381C>G) n.3663C>G c.1926C>G (p.Asp642Glu) c.85C>G c.3381+13184C>G (n.3381+13184C>G) c.*1517C>G (n.*1517C>G) c.2640C>G (p.Asp880Glu) c.714C>G (p.Asp238Glu) | |
| 1 | g.61914643C>T | CA417994095 | PATJ | c.3549C>T (p.Asp1183=) c.3491-3381C>T (n.3491-3381C>T) n.3663C>T c.1926C>T (p.Asp642=) c.85C>T c.3381+13184C>T (n.3381+13184C>T) c.*1517C>T (n.*1517C>T) c.2640C>T (p.Asp880=) c.714C>T (p.Asp238=) | gnomAD v4 |
| 1 | g.61914644A>C | CA340548498 | PATJ | c.3550A>C (p.Thr1184Pro) c.3491-3380A>C (n.3491-3380A>C) n.3664A>C c.1927A>C (p.Thr643Pro) c.86A>C c.3381+13185A>C (n.3381+13185A>C) c.*1518A>C (n.*1518A>C) c.2641A>C (p.Thr881Pro) c.715A>C (p.Thr239Pro) | gnomAD v4 |
| 1 | g.61914644A>G | CA340548499 | PATJ | c.3550A>G (p.Thr1184Ala) c.3491-3380A>G (n.3491-3380A>G) n.3664A>G c.1927A>G (p.Thr643Ala) c.86A>G c.3381+13185A>G (n.3381+13185A>G) c.*1518A>G (n.*1518A>G) c.2641A>G (p.Thr881Ala) c.715A>G (p.Thr239Ala) | |
| 1 | g.61914644A>T | CA340548500 | PATJ | c.3550A>T (p.Thr1184Ser) c.3491-3380A>T (n.3491-3380A>T) n.3664A>T c.1927A>T (p.Thr643Ser) c.86A>T c.3381+13185A>T (n.3381+13185A>T) c.*1518A>T (n.*1518A>T) c.2641A>T (p.Thr881Ser) c.715A>T (p.Thr239Ser) | |
| 1 | g.61914645C>A | CA340548501 | PATJ | c.3551C>A (p.Thr1184Asn) c.3491-3379C>A (n.3491-3379C>A) n.3665C>A c.1928C>A (p.Thr643Asn) c.87C>A c.3381+13186C>A (n.3381+13186C>A) c.*1519C>A (n.*1519C>A) c.2642C>A (p.Thr881Asn) c.716C>A (p.Thr239Asn) | gnomAD v4 |
| 1 | g.61914645C>G | CA340548502 | PATJ | c.3551C>G (p.Thr1184Ser) c.3491-3379C>G (n.3491-3379C>G) n.3665C>G c.1928C>G (p.Thr643Ser) c.87C>G c.3381+13186C>G (n.3381+13186C>G) c.*1519C>G (n.*1519C>G) c.2642C>G (p.Thr881Ser) c.716C>G (p.Thr239Ser) | |
| 1 | g.61914645C>T | CA340548503 | PATJ | c.3551C>T (p.Thr1184Ile) c.3491-3379C>T (n.3491-3379C>T) n.3665C>T c.1928C>T (p.Thr643Ile) c.87C>T c.3381+13186C>T (n.3381+13186C>T) c.*1519C>T (n.*1519C>T) c.2642C>T (p.Thr881Ile) c.716C>T (p.Thr239Ile) | |
| 1 | g.61914647del | CA2645959049 | PATJ | c.3553del (p.Gln1185LysfsTer15) c.3491-3377del (n.3491-3377del) n.3667del c.1930del (p.Gln644LysfsTer15) c.89del c.3381+13188del (n.3381+13188del) c.*1521del (n.*1521del) c.2644del (p.Gln882LysfsTer15) c.718del (p.Gln240LysfsTer15) | gnomAD v4 |
| 1 | g.61914646C>A | CA417994097 | PATJ | c.3552C>A (p.Thr1184=) c.3491-3378C>A (n.3491-3378C>A) n.3666C>A c.1929C>A (p.Thr643=) c.88C>A c.3381+13187C>A (n.3381+13187C>A) c.*1520C>A (n.*1520C>A) c.2643C>A (p.Thr881=) c.717C>A (p.Thr239=) | gnomAD v4 |
| 1 | g.61914646C= | CA1170862925 | PATJ | c.3552C= (p.Thr1184=) c.3491-3378C= (n.3491-3378C=) n.3666C= c.1929C= (p.Thr643=) c.88C= c.3381+13187C= (n.3381+13187C=) c.*1520C= (n.*1520C=) c.2643C= (p.Thr881=) c.717C= (p.Thr239=) | |
| 1 | g.61914646C>G | CA417994098 | PATJ | c.3552C>G (p.Thr1184=) c.3491-3378C>G (n.3491-3378C>G) n.3666C>G c.1929C>G (p.Thr643=) c.88C>G c.3381+13187C>G (n.3381+13187C>G) c.*1520C>G (n.*1520C>G) c.2643C>G (p.Thr881=) c.717C>G (p.Thr239=) | |
| 1 | g.61914646C>T | CA882658 | PATJ | c.3552C>T (p.Thr1184=) c.3491-3378C>T (n.3491-3378C>T) n.3666C>T c.1929C>T (p.Thr643=) c.88C>T c.3381+13187C>T (n.3381+13187C>T) c.*1520C>T (n.*1520C>T) c.2643C>T (p.Thr881=) c.717C>T (p.Thr239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.61914647C>A | CA340548505 | PATJ | c.3553C>A (p.Gln1185Lys) c.3491-3377C>A (n.3491-3377C>A) n.3667C>A c.1930C>A (p.Gln644Lys) c.1C>A (p.Gln1Lys) c.89C>A c.3381+13188C>A (n.3381+13188C>A) c.*1521C>A (n.*1521C>A) c.2644C>A (p.Gln882Lys) c.718C>A (p.Gln240Lys) | gnomAD v4 |
| 1 | g.61914647C= | CA1170862926 | PATJ | c.3553C= (p.Gln1185=) c.3491-3377C= (n.3491-3377C=) n.3667C= c.1930C= (p.Gln644=) c.1C= (p.Gln1=) c.89C= c.3381+13188C= (n.3381+13188C=) c.*1521C= (n.*1521C=) c.2644C= (p.Gln882=) c.718C= (p.Gln240=) | |
| 1 | g.61914647C>G | CA340548504 | PATJ | c.3553C>G (p.Gln1185Glu) c.3491-3377C>G (n.3491-3377C>G) n.3667C>G c.1930C>G (p.Gln644Glu) c.1C>G (p.Gln1Glu) c.89C>G c.3381+13188C>G (n.3381+13188C>G) c.*1521C>G (n.*1521C>G) c.2644C>G (p.Gln882Glu) c.718C>G (p.Gln240Glu) |