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 |
|---|---|---|---|---|---|
| 12 | g.49040811_49045663del | CA1139662644 | KMT2D | c.4741+257_6959del c.4741+257_6968del c.4738+257_6956del c.4738+257_6965del c.4741+257_6947del c.4741+257_6875del n.7061+257_9288del n.6050+257_8277del | ClinVar |
| 12 | g.49042591C>A | CA384628098 | KMT2D | c.649G>T c.5837G>T (p.Gly1946Val) c.5846G>T (p.Gly1949Val) c.1786G>T (n.1786G>T) c.5834G>T (p.Gly1945Val) c.5843G>T (p.Gly1948Val) n.8166G>T n.7155G>T | |
| 12 | g.49042591C>G | CA384628100 | KMT2D | c.649G>C c.5837G>C (p.Gly1946Ala) c.5846G>C (p.Gly1949Ala) c.1786G>C (n.1786G>C) c.5834G>C (p.Gly1945Ala) c.5843G>C (p.Gly1948Ala) n.8166G>C n.7155G>C | dbSNP COSMIC COSMIC |
| 12 | g.49042591C>T | CA384628102 | KMT2D | c.649G>A c.5837G>A (p.Gly1946Asp) c.5846G>A (p.Gly1949Asp) c.1786G>A (n.1786G>A) c.5834G>A (p.Gly1945Asp) c.5843G>A (p.Gly1948Asp) n.8166G>A n.7155G>A | dbSNP |
| 12 | g.49042592C>A | CA384628105 | KMT2D | c.648G>T c.5836G>T (p.Gly1946Cys) c.5845G>T (p.Gly1949Cys) c.1785G>T (n.1785G>T) c.5833G>T (p.Gly1945Cys) c.5842G>T (p.Gly1948Cys) n.8165G>T n.7154G>T | dbSNP gnomAD v4 |
| 12 | g.49042592C>G | CA384628113 | KMT2D | c.648G>C c.5836G>C (p.Gly1946Arg) c.5845G>C (p.Gly1949Arg) c.1785G>C (n.1785G>C) c.5833G>C (p.Gly1945Arg) c.5842G>C (p.Gly1948Arg) n.8165G>C n.7154G>C | dbSNP |
| 12 | g.49042592C>T | CA384628114 | KMT2D | c.648G>A c.5836G>A (p.Gly1946Ser) c.5845G>A (p.Gly1949Ser) c.1785G>A (n.1785G>A) c.5833G>A (p.Gly1945Ser) c.5842G>A (p.Gly1948Ser) n.8165G>A n.7154G>A | gnomAD v4 |
| 12 | g.49042593T>A | CA479712468 | KMT2D | c.647A>T c.5835A>T (p.Pro1945=) c.5844A>T (p.Pro1948=) c.1784A>T (n.1784A>T) c.5832A>T (p.Pro1944=) c.5841A>T (p.Pro1947=) n.8164A>T n.7153A>T | |
| 12 | g.49042593T>C | CA479712470 | KMT2D | c.647A>G c.5835A>G (p.Pro1945=) c.5844A>G (p.Pro1948=) c.1784A>G (n.1784A>G) c.5832A>G (p.Pro1944=) c.5841A>G (p.Pro1947=) n.8164A>G n.7153A>G | |
| 12 | g.49042593T>G | CA479712471 | KMT2D | c.647A>C c.5835A>C (p.Pro1945=) c.5844A>C (p.Pro1948=) c.1784A>C (n.1784A>C) c.5832A>C (p.Pro1944=) c.5841A>C (p.Pro1947=) n.8164A>C n.7153A>C | |
| 12 | g.49042594G>A | CA384628119 | KMT2D | c.646C>T c.5834C>T (p.Pro1945Leu) c.5843C>T (p.Pro1948Leu) c.1783C>T (n.1783C>T) c.5831C>T (p.Pro1944Leu) c.5840C>T (p.Pro1947Leu) n.8163C>T n.7152C>T | dbSNP |
| 12 | g.49042594G>C | CA384628118 | KMT2D | c.646C>G c.5834C>G (p.Pro1945Arg) c.5843C>G (p.Pro1948Arg) c.1783C>G (n.1783C>G) c.5831C>G (p.Pro1944Arg) c.5840C>G (p.Pro1947Arg) n.8163C>G n.7152C>G | |
| 12 | g.49042594G>T | CA384628117 | KMT2D | c.646C>A c.5834C>A (p.Pro1945Gln) c.5843C>A (p.Pro1948Gln) c.1783C>A (n.1783C>A) c.5831C>A (p.Pro1944Gln) c.5840C>A (p.Pro1947Gln) n.8163C>A n.7152C>A | dbSNP |
| 12 | g.49042595G>A | CA384628123 | KMT2D | c.645C>T c.5833C>T (p.Pro1945Ser) c.5842C>T (p.Pro1948Ser) c.1782C>T (n.1782C>T) c.5830C>T (p.Pro1944Ser) c.5839C>T (p.Pro1947Ser) n.8162C>T n.7151C>T | dbSNP |
| 12 | g.49042595G>C | CA384628120 | KMT2D | c.645C>G c.5833C>G (p.Pro1945Ala) c.5842C>G (p.Pro1948Ala) c.1782C>G (n.1782C>G) c.5830C>G (p.Pro1944Ala) c.5839C>G (p.Pro1947Ala) n.8162C>G n.7151C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042595G= | CA2034948348 | KMT2D | c.645C= c.5833C= (p.Pro1945=) c.5842C= (p.Pro1948=) c.1782C= (n.1782C=) c.5830C= (p.Pro1944=) c.5839C= (p.Pro1947=) n.8162C= n.7151C= | |
| 12 | g.49042595G>T | CA384628121 | KMT2D | c.645C>A c.5833C>A (p.Pro1945Thr) c.5842C>A (p.Pro1948Thr) c.1782C>A (n.1782C>A) c.5830C>A (p.Pro1944Thr) c.5839C>A (p.Pro1947Thr) n.8162C>A n.7151C>A | |
| 12 | g.49042596G>A | CA236612644 | KMT2D | c.644C>T c.5832C>T (p.Tyr1944=) c.5841C>T (p.Tyr1947=) c.1781C>T (n.1781C>T) c.5829C>T (p.Tyr1943=) c.5838C>T (p.Tyr1946=) n.8161C>T n.7150C>T | dbSNP |
| 12 | g.49042596G>C | CA384628132 | KMT2D | c.644C>G c.5832C>G (p.Tyr1944Ter) c.5841C>G (p.Tyr1947Ter) c.1781C>G (n.1781C>G) c.5829C>G (p.Tyr1943Ter) c.5838C>G (p.Tyr1946Ter) n.8161C>G n.7150C>G | dbSNP |
| 12 | g.49042596G= | CA2034948350 | KMT2D | c.644C= c.5832C= (p.Tyr1944=) c.5841C= (p.Tyr1947=) c.1781C= (n.1781C=) c.5829C= (p.Tyr1943=) c.5838C= (p.Tyr1946=) n.8161C= n.7150C= | |
| 12 | g.49042596G>T | CA384628138 | KMT2D | c.644C>A c.5832C>A (p.Tyr1944Ter) c.5841C>A (p.Tyr1947Ter) c.1781C>A (n.1781C>A) c.5829C>A (p.Tyr1943Ter) c.5838C>A (p.Tyr1946Ter) n.8161C>A n.7150C>A | dbSNP |
| 12 | g.49042597T>A | CA384628153 | KMT2D | c.643A>T c.5831A>T (p.Tyr1944Phe) c.5840A>T (p.Tyr1947Phe) c.1780A>T (n.1780A>T) c.5828A>T (p.Tyr1943Phe) c.5837A>T (p.Tyr1946Phe) n.8160A>T n.7149A>T | dbSNP |
| 12 | g.49042597T>C | CA384628148 | KMT2D | c.643A>G c.5831A>G (p.Tyr1944Cys) c.5840A>G (p.Tyr1947Cys) c.1780A>G (n.1780A>G) c.5828A>G (p.Tyr1943Cys) c.5837A>G (p.Tyr1946Cys) n.8160A>G n.7149A>G | dbSNP gnomAD v4 |
| 12 | g.49042597T>G | CA384628142 | KMT2D | c.643A>C c.5831A>C (p.Tyr1944Ser) c.5840A>C (p.Tyr1947Ser) c.1780A>C (n.1780A>C) c.5828A>C (p.Tyr1943Ser) c.5837A>C (p.Tyr1946Ser) n.8160A>C n.7149A>C | dbSNP |
| 12 | g.49042598A>C | CA384628160 | KMT2D | c.642T>G c.5830T>G (p.Tyr1944Asp) c.5839T>G (p.Tyr1947Asp) c.1779T>G (n.1779T>G) c.5827T>G (p.Tyr1943Asp) c.5836T>G (p.Tyr1946Asp) n.8159T>G n.7148T>G | |
| 12 | g.49042598A>G | CA384628169 | KMT2D | c.642T>C c.5830T>C (p.Tyr1944His) c.5839T>C (p.Tyr1947His) c.1779T>C (n.1779T>C) c.5827T>C (p.Tyr1943His) c.5836T>C (p.Tyr1946His) n.8159T>C n.7148T>C | dbSNP |
| 12 | g.49042598A>T | CA384628172 | KMT2D | c.642T>A c.5830T>A (p.Tyr1944Asn) c.5839T>A (p.Tyr1947Asn) c.1779T>A (n.1779T>A) c.5827T>A (p.Tyr1943Asn) c.5836T>A (p.Tyr1946Asn) n.8159T>A n.7148T>A | dbSNP |
| 12 | g.49042600_49042602del | CA2618609720 | KMT2D | c.640_642del c.5828_5830del (p.Ser1943del) c.5837_5839del (p.Ser1946del) c.1777_1779del (n.1777_1779del) c.5825_5827del (p.Ser1942del) c.5834_5836del (p.Ser1945del) n.8157_8159del n.7146_7148del | gnomAD v4 |
| 12 | g.49042599G>A | CA479712477 | KMT2D | c.641C>T c.5829C>T (p.Ser1943=) c.5838C>T (p.Ser1946=) c.1778C>T (n.1778C>T) c.5826C>T (p.Ser1942=) c.5835C>T (p.Ser1945=) n.8158C>T n.7147C>T | dbSNP gnomAD v4 |
| 12 | g.49042599G>C | CA479712478 | KMT2D | c.641C>G c.5829C>G (p.Ser1943=) c.5838C>G (p.Ser1946=) c.1778C>G (n.1778C>G) c.5826C>G (p.Ser1942=) c.5835C>G (p.Ser1945=) n.8158C>G n.7147C>G | dbSNP |
| 12 | g.49042599G>T | CA479712480 | KMT2D | c.641C>A c.5829C>A (p.Ser1943=) c.5838C>A (p.Ser1946=) c.1778C>A (n.1778C>A) c.5826C>A (p.Ser1942=) c.5835C>A (p.Ser1945=) n.8158C>A n.7147C>A | dbSNP |
| 12 | g.49042600del | CA645579727 | KMT2D | c.641del c.5829del (p.Tyr1944ThrfsTer?) c.5838del (p.Tyr1947ThrfsTer?) c.1778del (n.1778del) c.5826del (p.Tyr1943ThrfsTer?) c.5835del (p.Tyr1946ThrfsTer?) n.8158del n.7147del | COSMIC COSMIC |
| 12 | g.49042600G>A | CA236612646 | KMT2D | c.640C>T c.5828C>T (p.Ser1943Phe) c.5837C>T (p.Ser1946Phe) c.1777C>T (n.1777C>T) c.5825C>T (p.Ser1942Phe) c.5834C>T (p.Ser1945Phe) n.8157C>T n.7146C>T | dbSNP gnomAD v4 |
| 12 | g.49042600G>C | CA384628177 | KMT2D | c.640C>G c.5828C>G (p.Ser1943Cys) c.5837C>G (p.Ser1946Cys) c.1777C>G (n.1777C>G) c.5825C>G (p.Ser1942Cys) c.5834C>G (p.Ser1945Cys) n.8157C>G n.7146C>G | dbSNP gnomAD v4 |
| 12 | g.49042600G= | CA2034948353 | KMT2D | c.640C= c.5828C= (p.Ser1943=) c.5837C= (p.Ser1946=) c.1777C= (n.1777C=) c.5825C= (p.Ser1942=) c.5834C= (p.Ser1945=) n.8157C= n.7146C= | |
| 12 | g.49042600G>T | CA384628179 | KMT2D | c.640C>A c.5828C>A (p.Ser1943Tyr) c.5837C>A (p.Ser1946Tyr) c.1777C>A (n.1777C>A) c.5825C>A (p.Ser1942Tyr) c.5834C>A (p.Ser1945Tyr) n.8157C>A n.7146C>A | dbSNP |
| 12 | g.49042601A>C | CA384628184 | KMT2D | c.639T>G c.5827T>G (p.Ser1943Ala) c.5836T>G (p.Ser1946Ala) c.1776T>G (n.1776T>G) c.5824T>G (p.Ser1942Ala) c.5833T>G (p.Ser1945Ala) n.8156T>G n.7145T>G | |
| 12 | g.49042601A>G | CA384628188 | KMT2D | c.639T>C c.5827T>C (p.Ser1943Pro) c.5836T>C (p.Ser1946Pro) c.1776T>C (n.1776T>C) c.5824T>C (p.Ser1942Pro) c.5833T>C (p.Ser1945Pro) n.8156T>C n.7145T>C | dbSNP |
| 12 | g.49042601A>T | CA384628187 | KMT2D | c.639T>A c.5827T>A (p.Ser1943Thr) c.5836T>A (p.Ser1946Thr) c.1776T>A (n.1776T>A) c.5824T>A (p.Ser1942Thr) c.5833T>A (p.Ser1945Thr) n.8156T>A n.7145T>A | dbSNP gnomAD v4 |
| 12 | g.49042602G>A | CA479712485 | KMT2D | c.638C>T c.5826C>T (p.Asp1942=) c.5835C>T (p.Asp1945=) c.1775C>T (n.1775C>T) c.5823C>T (p.Asp1941=) c.5832C>T (p.Asp1944=) n.8155C>T n.7144C>T | dbSNP gnomAD v2 |
| 12 | g.49042602G>C | CA384628189 | KMT2D | c.638C>G c.5826C>G (p.Asp1942Glu) c.5835C>G (p.Asp1945Glu) c.1775C>G (n.1775C>G) c.5823C>G (p.Asp1941Glu) c.5832C>G (p.Asp1944Glu) n.8155C>G n.7144C>G | dbSNP |
| 12 | g.49042602G= | CA2034948356 | KMT2D | c.638C= c.5826C= (p.Asp1942=) c.5835C= (p.Asp1945=) c.1775C= (n.1775C=) c.5823C= (p.Asp1941=) c.5832C= (p.Asp1944=) n.8155C= n.7144C= | |
| 12 | g.49042602G>T | CA384628190 | KMT2D | c.638C>A c.5826C>A (p.Asp1942Glu) c.5835C>A (p.Asp1945Glu) c.1775C>A (n.1775C>A) c.5823C>A (p.Asp1941Glu) c.5832C>A (p.Asp1944Glu) n.8155C>A n.7144C>A | ClinVar dbSNP |
| 12 | g.49042603_49042609del | CA2726137961 | KMT2D | c.632_638del c.5820_5826del (p.Met1941ProfsTer?) c.5829_5835del (p.Met1944ProfsTer?) c.1769_1775del (n.1769_1775del) c.5817_5823del (p.Met1940ProfsTer?) c.5826_5832del (p.Met1943ProfsTer?) n.8149_8155del n.7138_7144del | dbSNP |
| 12 | g.49042603T>A | CA384628192 | KMT2D | c.637A>T c.5825A>T (p.Asp1942Val) c.5834A>T (p.Asp1945Val) c.1774A>T (n.1774A>T) c.5822A>T (p.Asp1941Val) c.5831A>T (p.Asp1944Val) n.8154A>T n.7143A>T | |
| 12 | g.49042603T>C | CA384628194 | KMT2D | c.637A>G c.5825A>G (p.Asp1942Gly) c.5834A>G (p.Asp1945Gly) c.1774A>G (n.1774A>G) c.5822A>G (p.Asp1941Gly) c.5831A>G (p.Asp1944Gly) n.8154A>G n.7143A>G | |
| 12 | g.49042603T>G | CA384628196 | KMT2D | c.637A>C c.5825A>C (p.Asp1942Ala) c.5834A>C (p.Asp1945Ala) c.1774A>C (n.1774A>C) c.5822A>C (p.Asp1941Ala) c.5831A>C (p.Asp1944Ala) n.8154A>C n.7143A>C | |
| 12 | g.49042604C>A | CA384628200 | KMT2D | c.636G>T c.5824G>T (p.Asp1942Tyr) c.5833G>T (p.Asp1945Tyr) c.1773G>T (n.1773G>T) c.5821G>T (p.Asp1941Tyr) c.5830G>T (p.Asp1944Tyr) n.8153G>T n.7142G>T | dbSNP gnomAD v4 |
| 12 | g.49042604C= | CA2034948359 | KMT2D | c.636G= c.5824G= (p.Asp1942=) c.5833G= (p.Asp1945=) c.1773G= (n.1773G=) c.5821G= (p.Asp1941=) c.5830G= (p.Asp1944=) n.8153G= n.7142G= | |
| 12 | g.49042604C>G | CA384628204 | KMT2D | c.636G>C c.5824G>C (p.Asp1942His) c.5833G>C (p.Asp1945His) c.1773G>C (n.1773G>C) c.5821G>C (p.Asp1941His) c.5830G>C (p.Asp1944His) n.8153G>C n.7142G>C | dbSNP |