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 |
|---|---|---|---|---|---|
| 10 | g.80274511G>C | CA2609912914 | MAT1A | c.1085+9C>G (n.1085+9C>G) n.317+9C>G n.597+9C>G c.962+9C>G (n.962+9C>G) | gnomAD v4 |
| 10 | g.80274513A= | CA1922577833 | MAT1A | c.1085+7T= (n.1085+7T=) n.317+7T= n.597+7T= c.962+7T= (n.962+7T=) | |
| 10 | g.80274513A>C | CA5576615 | MAT1A | c.1085+7T>G (n.1085+7T>G) n.317+7T>G n.597+7T>G c.962+7T>G (n.962+7T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274514_80274516delinsCTT | CA1922577834 | MAT1A | c.1085+4_1085+6delinsAAG (n.1085+4_1085+6delinsAAG) n.317+4_317+6delinsAAG n.597+4_597+6delinsAAG c.962+4_962+6delinsAAG (n.962+4_962+6delinsAAG) | |
| 10 | g.80274516_80274517del | CA5576616 | MAT1A | c.1085+4_1085+5del (n.1085+4_1085+5del) n.317+4_317+5del n.597+4_597+5del c.962+4_962+5del (n.962+4_962+5del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274518A>C | CA377360250 | MAT1A | c.1085+2T>G (n.1085+2T>G) n.317+2T>G n.597+2T>G c.962+2T>G (n.962+2T>G) | |
| 10 | g.80274518A>G | CA377360251 | MAT1A | c.1085+2T>C (n.1085+2T>C) n.317+2T>C n.597+2T>C c.962+2T>C (n.962+2T>C) | gnomAD v4 |
| 10 | g.80274518A>T | CA377360252 | MAT1A | c.1085+2T>A (n.1085+2T>A) n.317+2T>A n.597+2T>A c.962+2T>A (n.962+2T>A) | |
| 10 | g.80274518_80274519dup | CA2609912915 | MAT1A | c.1085+1_1085+2dup (n.1085+1_1085+2dup) n.317+1_317+2dup n.597+1_597+2dup c.962+1_962+2dup (n.962+1_962+2dup) | gnomAD v4 |
| 10 | g.80274519C>A | CA377360253 | MAT1A | c.1085+1G>T (n.1085+1G>T) n.317+1G>T n.597+1G>T c.962+1G>T (n.962+1G>T) | |
| 10 | g.80274519C>G | CA377360254 | MAT1A | c.1085+1G>C (n.1085+1G>C) n.317+1G>C n.597+1G>C c.962+1G>C (n.962+1G>C) | |
| 10 | g.80274519C>T | CA377360255 | MAT1A | c.1085+1G>A (n.1085+1G>A) n.317+1G>A n.597+1G>A c.962+1G>A (n.962+1G>A) | |
| 10 | g.80274520C>A | CA377360256 | MAT1A | c.1085G>T (p.Arg362Met) n.317G>T n.597G>T c.962G>T (p.Arg321Met) | |
| 10 | g.80274520C>G | CA377360257 | MAT1A | c.1085G>C (p.Arg362Thr) n.317G>C n.597G>C c.962G>C (p.Arg321Thr) | |
| 10 | g.80274520C>T | CA377360258 | MAT1A | c.1085G>A (p.Arg362Lys) n.317G>A n.597G>A c.962G>A (p.Arg321Lys) | |
| 10 | g.80274521T>A | CA377360259 | MAT1A | c.1084A>T (p.Arg362Trp) n.316A>T n.596A>T c.961A>T (p.Arg321Trp) | |
| 10 | g.80274521T>C | CA377360260 | MAT1A | c.1084A>G (p.Arg362Gly) n.316A>G n.596A>G c.961A>G (p.Arg321Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274521T>G | CA470467208 | MAT1A | c.1084A>C (p.Arg362=) n.316A>C n.596A>C c.961A>C (p.Arg321=) | |
| 10 | g.80274521T= | CA1922577837 | MAT1A | c.1084A= (p.Arg362=) n.316A= n.596A= c.961A= (p.Arg321=) | |
| 10 | g.80274522G>A | CA210321720 | MAT1A | c.1083C>T (p.Val361=) n.315C>T n.595C>T c.960C>T (p.Val320=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.80274522G>C | CA470467209 | MAT1A | c.1083C>G (p.Val361=) n.315C>G n.595C>G c.960C>G (p.Val320=) | gnomAD v4 |
| 10 | g.80274522G= | CA1922577839 | MAT1A | c.1083C= (p.Val361=) n.315C= n.595C= c.960C= (p.Val320=) | |
| 10 | g.80274522G>T | CA470467210 | MAT1A | c.1083C>A (p.Val361=) n.315C>A n.595C>A c.960C>A (p.Val320=) | gnomAD v4 |
| 10 | g.80274523A>C | CA377360261 | MAT1A | c.1082T>G (p.Val361Gly) n.314T>G n.594T>G c.959T>G (p.Val320Gly) | |
| 10 | g.80274523A>G | CA377360263 | MAT1A | c.1082T>C (p.Val361Ala) n.314T>C n.594T>C c.959T>C (p.Val320Ala) | |
| 10 | g.80274523A>T | CA377360262 | MAT1A | c.1082T>A (p.Val361Asp) n.314T>A n.594T>A c.959T>A (p.Val320Asp) | |
| 10 | g.80274524C>A | CA377360264 | MAT1A | c.1081G>T (p.Val361Phe) n.313G>T n.593G>T c.958G>T (p.Val320Phe) | COSMIC |
| 10 | g.80274524C>G | CA377360265 | MAT1A | c.1081G>C (p.Val361Leu) n.313G>C n.593G>C c.958G>C (p.Val320Leu) | |
| 10 | g.80274524C>T | CA377360266 | MAT1A | c.1081G>A (p.Val361Ile) n.313G>A n.593G>A c.958G>A (p.Val320Ile) | |
| 10 | g.80274525A= | CA1922577841 | MAT1A | c.1080T= (p.Ile360=) n.312T= n.592T= c.957T= (p.Ile319=) | |
| 10 | g.80274525A>C | CA377360267 | MAT1A | c.1080T>G (p.Ile360Met) n.312T>G n.592T>G c.957T>G (p.Ile319Met) | |
| 10 | g.80274525A>G | CA470467212 | MAT1A | c.1080T>C (p.Ile360=) n.312T>C n.592T>C c.957T>C (p.Ile319=) | dbSNP gnomAD v4 |
| 10 | g.80274525A>T | CA470467211 | MAT1A | c.1080T>A (p.Ile360=) n.312T>A n.592T>A c.957T>A (p.Ile319=) | |
| 10 | g.80274526A= | CA1922577842 | MAT1A | c.1079T= (p.Ile360=) n.311T= n.591T= c.956T= (p.Ile319=) | |
| 10 | g.80274526A>C | CA377360268 | MAT1A | c.1079T>G (p.Ile360Ser) n.311T>G n.591T>G c.956T>G (p.Ile319Ser) | |
| 10 | g.80274526A>G | CA210321726 | MAT1A | c.1079T>C (p.Ile360Thr) n.311T>C n.591T>C c.956T>C (p.Ile319Thr) | dbSNP |
| 10 | g.80274526A>T | CA377360269 | MAT1A | c.1079T>A (p.Ile360Asn) n.311T>A n.591T>A c.956T>A (p.Ile319Asn) | |
| 10 | g.80274527T>A | CA377360270 | MAT1A | c.1078A>T (p.Ile360Phe) n.310A>T n.590A>T c.955A>T (p.Ile319Phe) | |
| 10 | g.80274527T>C | CA377360271 | MAT1A | c.1078A>G (p.Ile360Val) n.310A>G n.590A>G c.955A>G (p.Ile319Val) | |
| 10 | g.80274527T>G | CA377360272 | MAT1A | c.1078A>C (p.Ile360Leu) n.310A>C n.590A>C c.955A>C (p.Ile319Leu) | |
| 10 | g.80274528G>A | CA470467213 | MAT1A | c.1077C>T (p.Val359=) n.309C>T n.589C>T c.954C>T (p.Val318=) | gnomAD v4 |
| 10 | g.80274528G>C | CA470467214 | MAT1A | c.1077C>G (p.Val359=) n.309C>G n.589C>G c.954C>G (p.Val318=) | |
| 10 | g.80274528G>T | CA470467215 | MAT1A | c.1077C>A (p.Val359=) n.309C>A n.589C>A c.954C>A (p.Val318=) | |
| 10 | g.80274529A>C | CA377360273 | MAT1A | c.1076T>G (p.Val359Gly) n.308T>G n.588T>G c.953T>G (p.Val318Gly) | gnomAD v4 |
| 10 | g.80274529A>G | CA377360274 | MAT1A | c.1076T>C (p.Val359Ala) n.308T>C n.588T>C c.953T>C (p.Val318Ala) | |
| 10 | g.80274529A>T | CA377360275 | MAT1A | c.1076T>A (p.Val359Asp) n.308T>A n.588T>A c.953T>A (p.Val318Asp) | |
| 10 | g.80274530C>A | CA377360276 | MAT1A | c.1075G>T (p.Val359Phe) n.307G>T n.587G>T c.952G>T (p.Val318Phe) | |
| 10 | g.80274530C= | CA1922577843 | MAT1A | c.1075G= (p.Val359=) n.307G= n.587G= c.952G= (p.Val318=) | |
| 10 | g.80274530C>G | CA377360277 | MAT1A | c.1075G>C (p.Val359Leu) n.307G>C n.587G>C c.952G>C (p.Val318Leu) | |
| 10 | g.80274530C>T | CA5576617 | MAT1A | c.1075G>A (p.Val359Ile) n.307G>A n.587G>A c.952G>A (p.Val318Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274531G>A | CA5576618 | MAT1A | c.1074C>T (p.Gly358=) n.306C>T n.586C>T c.951C>T (p.Gly317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274531G>C | CA470467216 | MAT1A | c.1074C>G (p.Gly358=) n.306C>G n.586C>G c.951C>G (p.Gly317=) | |
| 10 | g.80274531G= | CA1922577846 | MAT1A | c.1074C= (p.Gly358=) n.306C= n.586C= c.951C= (p.Gly317=) | |
| 10 | g.80274531G>T | CA210321765 | MAT1A | c.1074C>A (p.Gly358=) n.306C>A n.586C>A c.951C>A (p.Gly317=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274532C>A | CA377360278 | MAT1A | c.1073G>T (p.Gly358Val) n.305G>T n.585G>T c.950G>T (p.Gly317Val) | |
| 10 | g.80274532C= | CA1922577848 | MAT1A | c.1073G= (p.Gly358=) n.305G= n.585G= c.950G= (p.Gly317=) | |
| 10 | g.80274532C>G | CA377360279 | MAT1A | c.1073G>C (p.Gly358Ala) n.305G>C n.585G>C c.950G>C (p.Gly317Ala) | |
| 10 | g.80274532C>T | CA377360280 | MAT1A | c.1073G>A (p.Gly358Asp) n.305G>A n.585G>A c.950G>A (p.Gly317Asp) | dbSNP |
| 10 | g.80274533C>A | CA377360281 | MAT1A | c.1072G>T (p.Gly358Cys) n.304G>T n.584G>T c.949G>T (p.Gly317Cys) | |
| 10 | g.80274533C>G | CA377360282 | MAT1A | c.1072G>C (p.Gly358Arg) n.304G>C n.584G>C c.949G>C (p.Gly317Arg) | |
| 10 | g.80274533C>T | CA377360283 | MAT1A | c.1072G>A (p.Gly358Ser) n.304G>A n.584G>A c.949G>A (p.Gly317Ser) | |
| 10 | g.80274534C>A | CA470467217 | MAT1A | c.1071G>T (p.Pro357=) n.303G>T n.583G>T c.948G>T (p.Pro316=) | |
| 10 | g.80274534C= | CA1922577850 | MAT1A | c.1071G= (p.Pro357=) n.303G= n.583G= c.948G= (p.Pro316=) | |
| 10 | g.80274534C>G | CA470467218 | MAT1A | c.1071G>C (p.Pro357=) n.303G>C n.583G>C c.948G>C (p.Pro316=) | |
| 10 | g.80274534C>T | CA5576619 | MAT1A | c.1071G>A (p.Pro357=) n.303G>A n.583G>A c.948G>A (p.Pro316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274535G>A | CA114838 | MAT1A | c.1070C>T (p.Pro357Leu) n.302C>T n.582C>T c.947C>T (p.Pro316Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274535G>C | CA377360284 | MAT1A | c.1070C>G (p.Pro357Arg) n.302C>G n.582C>G c.947C>G (p.Pro316Arg) | |
| 10 | g.80274535G= | CA1922577851 | MAT1A | c.1070C= (p.Pro357=) n.302C= n.582C= c.947C= (p.Pro316=) | |
| 10 | g.80274535G>T | CA377360285 | MAT1A | c.1070C>A (p.Pro357Gln) n.302C>A n.582C>A c.947C>A (p.Pro316Gln) | |
| 10 | g.80274536G>A | CA377360287 | MAT1A | c.1069C>T (p.Pro357Ser) n.301C>T n.581C>T c.946C>T (p.Pro316Ser) | gnomAD v4 |
| 10 | g.80274536G>C | CA377360288 | MAT1A | c.1069C>G (p.Pro357Ala) n.301C>G n.581C>G c.946C>G (p.Pro316Ala) | |
| 10 | g.80274536G>T | CA377360286 | MAT1A | c.1069C>A (p.Pro357Thr) n.301C>A n.581C>A c.946C>A (p.Pro316Thr) | |
| 10 | g.80274537C>A | CA470467219 | MAT1A | c.1068G>T (p.Arg356=) n.300G>T n.580G>T c.945G>T (p.Arg315=) | |
| 10 | g.80274537C>G | CA470467221 | MAT1A | c.1068G>C (p.Arg356=) n.300G>C n.580G>C c.945G>C (p.Arg315=) | |
| 10 | g.80274537C>T | CA470467220 | MAT1A | c.1068G>A (p.Arg356=) n.300G>A n.580G>A c.945G>A (p.Arg315=) | gnomAD v4 COSMIC |
| 10 | g.80274538C>A | CA377360289 | MAT1A | c.1067G>T (p.Arg356Leu) n.299G>T n.579G>T c.944G>T (p.Arg315Leu) | |
| 10 | g.80274538C= | CA1922577854 | MAT1A | c.1067G= (p.Arg356=) n.299G= n.579G= c.944G= (p.Arg315=) | |
| 10 | g.80274538C>G | CA5576620 | MAT1A | c.1067G>C (p.Arg356Pro) n.299G>C n.579G>C c.944G>C (p.Arg315Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274538C>T | CA5576621 | MAT1A | c.1067G>A (p.Arg356Gln) n.299G>A n.579G>A c.944G>A (p.Arg315Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274539G>A | CA5576622 | MAT1A | c.1066C>T (p.Arg356Trp) n.298C>T n.578C>T c.943C>T (p.Arg315Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80274539G>C | CA377360290 | MAT1A | c.1066C>G (p.Arg356Gly) n.298C>G n.578C>G c.943C>G (p.Arg315Gly) | |
| 10 | g.80274539G= | CA1922577856 | MAT1A | c.1066C= (p.Arg356=) n.298C= n.578C= c.943C= (p.Arg315=) | |
| 10 | g.80274539G>T | CA470467222 | MAT1A | c.1066C>A (p.Arg356=) n.298C>A n.578C>A c.943C>A (p.Arg315=) | |
| 10 | g.80274540G>A | CA5576623 | MAT1A | c.1065C>T (p.Leu355=) n.297C>T n.577C>T c.942C>T (p.Leu314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274540G>C | CA470467223 | MAT1A | c.1065C>G (p.Leu355=) n.297C>G n.577C>G c.942C>G (p.Leu314=) | |
| 10 | g.80274540G= | CA1922577858 | MAT1A | c.1065C= (p.Leu355=) n.297C= n.577C= c.942C= (p.Leu314=) | |
| 10 | g.80274540G>T | CA5576624 | MAT1A | c.1065C>A (p.Leu355=) n.297C>A n.577C>A c.942C>A (p.Leu314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274541A= | CA1922577861 | MAT1A | c.1064T= (p.Leu355=) n.296T= n.576T= c.941T= (p.Leu314=) | |
| 10 | g.80274541A>C | CA377360291 | MAT1A | c.1064T>G (p.Leu355Arg) n.296T>G n.576T>G c.941T>G (p.Leu314Arg) | |
| 10 | g.80274541A>G | CA377360292 | MAT1A | c.1064T>C (p.Leu355Pro) n.296T>C n.576T>C c.941T>C (p.Leu314Pro) | dbSNP gnomAD v4 |
| 10 | g.80274541A>T | CA377360293 | MAT1A | c.1064T>A (p.Leu355His) n.296T>A n.576T>A c.941T>A (p.Leu314His) | |
| 10 | g.80274542G>A | CA377360294 | MAT1A | c.1063C>T (p.Leu355Phe) n.295C>T n.575C>T c.940C>T (p.Leu314Phe) | |
| 10 | g.80274542G>C | CA377360295 | MAT1A | c.1063C>G (p.Leu355Val) n.295C>G n.575C>G c.940C>G (p.Leu314Val) | |
| 10 | g.80274542G>T | CA377360296 | MAT1A | c.1063C>A (p.Leu355Ile) n.295C>A n.575C>A c.940C>A (p.Leu314Ile) | |
| 10 | g.80274543G>A | CA470467224 | MAT1A | c.1062C>T (p.Asp354=) n.294C>T n.574C>T c.939C>T (p.Asp313=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274543G>C | CA377360297 | MAT1A | c.1062C>G (p.Asp354Glu) n.294C>G n.574C>G c.939C>G (p.Asp313Glu) | |
| 10 | g.80274543G= | CA1922577862 | MAT1A | c.1062C= (p.Asp354=) n.294C= n.574C= c.939C= (p.Asp313=) | |
| 10 | g.80274543G>T | CA377360298 | MAT1A | c.1062C>A (p.Asp354Glu) n.294C>A n.574C>A c.939C>A (p.Asp313Glu) | |
| 10 | g.80274544T>A | CA377360300 | MAT1A | c.1061A>T (p.Asp354Val) n.293A>T n.573A>T c.938A>T (p.Asp313Val) | |
| 10 | g.80274544T>C | CA210321820 | MAT1A | c.1061A>G (p.Asp354Gly) n.293A>G n.573A>G c.938A>G (p.Asp313Gly) | dbSNP |
| 10 | g.80274544T>G | CA377360299 | MAT1A | c.1061A>C (p.Asp354Ala) n.293A>C n.573A>C c.938A>C (p.Asp313Ala) | |
| 10 | g.80274544T= | CA1922577864 | MAT1A | c.1061A= (p.Asp354=) n.293A= n.573A= c.938A= (p.Asp313=) | |
| 10 | g.80274545C>A | CA377360301 | MAT1A | c.1060G>T (p.Asp354Tyr) n.292G>T n.572G>T c.937G>T (p.Asp313Tyr) | |
| 10 | g.80274545C= | CA1922577866 | MAT1A | c.1060G= (p.Asp354=) n.292G= n.572G= c.937G= (p.Asp313=) | |
| 10 | g.80274545C>G | CA377360302 | MAT1A | c.1060G>C (p.Asp354His) n.292G>C n.572G>C c.937G>C (p.Asp313His) | |
| 10 | g.80274545C>T | CA377360303 | MAT1A | c.1060G>A (p.Asp354Asn) n.292G>A n.572G>A c.937G>A (p.Asp313Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274546G>A | CA5576625 | MAT1A | c.1059C>T (p.Phe353=) n.291C>T n.571C>T c.936C>T (p.Phe312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274546G>C | CA377360304 | MAT1A | c.1059C>G (p.Phe353Leu) n.291C>G n.571C>G c.936C>G (p.Phe312Leu) | |
| 10 | g.80274546G= | CA1922577868 | MAT1A | c.1059C= (p.Phe353=) n.291C= n.571C= c.936C= (p.Phe312=) | |
| 10 | g.80274546G>T | CA377360305 | MAT1A | c.1059C>A (p.Phe353Leu) n.291C>A n.571C>A c.936C>A (p.Phe312Leu) | gnomAD v4 |
| 10 | g.80274547A>C | CA377360306 | MAT1A | c.1058T>G (p.Phe353Cys) n.290T>G n.570T>G c.935T>G (p.Phe312Cys) | |
| 10 | g.80274547A>G | CA377360307 | MAT1A | c.1058T>C (p.Phe353Ser) n.290T>C n.570T>C c.935T>C (p.Phe312Ser) | |
| 10 | g.80274547A>T | CA377360308 | MAT1A | c.1058T>A (p.Phe353Tyr) n.290T>A n.570T>A c.935T>A (p.Phe312Tyr) | |
| 10 | g.80274548A>C | CA377360309 | MAT1A | c.1057T>G (p.Phe353Val) n.289T>G n.569T>G c.934T>G (p.Phe312Val) | gnomAD v4 |
| 10 | g.80274548A>G | CA377360310 | MAT1A | c.1057T>C (p.Phe353Leu) n.289T>C n.569T>C c.934T>C (p.Phe312Leu) | |
| 10 | g.80274548A>T | CA377360311 | MAT1A | c.1057T>A (p.Phe353Ile) n.289T>A n.569T>A c.934T>A (p.Phe312Ile) | |
| 10 | g.80274549G>A | CA470467225 | MAT1A | c.1056C>T (p.Asn352=) n.288C>T n.568C>T c.933C>T (p.Asn311=) | |
| 10 | g.80274549G>C | CA377360312 | MAT1A | c.1056C>G (p.Asn352Lys) n.288C>G n.568C>G c.933C>G (p.Asn311Lys) | |
| 10 | g.80274549G>T | CA377360313 | MAT1A | c.1056C>A (p.Asn352Lys) n.288C>A n.568C>A c.933C>A (p.Asn311Lys) | |
| 10 | g.80274550T>A | CA377360314 | MAT1A | c.1055A>T (p.Asn352Ile) n.287A>T n.567A>T c.932A>T (p.Asn311Ile) | |
| 10 | g.80274550T>C | CA377360315 | MAT1A | c.1055A>G (p.Asn352Ser) n.287A>G n.567A>G c.932A>G (p.Asn311Ser) | |
| 10 | g.80274550T>G | CA377360316 | MAT1A | c.1055A>C (p.Asn352Thr) n.287A>C n.567A>C c.932A>C (p.Asn311Thr) | |
| 10 | g.80274551T>A | CA377360317 | MAT1A | c.1054A>T (p.Asn352Tyr) n.286A>T n.566A>T c.931A>T (p.Asn311Tyr) | |
| 10 | g.80274551T>C | CA377360318 | MAT1A | c.1054A>G (p.Asn352Asp) n.286A>G n.566A>G c.931A>G (p.Asn311Asp) | |
| 10 | g.80274551T>G | CA377360319 | MAT1A | c.1054A>C (p.Asn352His) n.286A>C n.566A>C c.931A>C (p.Asn311His) | |
| 10 | g.80274552C>A | CA377360320 | MAT1A | c.1053G>T (p.Lys351Asn) n.285G>T n.565G>T c.930G>T (p.Lys310Asn) | |
| 10 | g.80274552C>G | CA377360321 | MAT1A | c.1053G>C (p.Lys351Asn) n.285G>C n.565G>C c.930G>C (p.Lys310Asn) | |
| 10 | g.80274552C>T | CA470467226 | MAT1A | c.1053G>A (p.Lys351=) n.285G>A n.565G>A c.930G>A (p.Lys310=) | |
| 10 | g.80274553T>A | CA377360322 | MAT1A | c.1052A>T (p.Lys351Met) n.284A>T n.564A>T c.929A>T (p.Lys310Met) | |
| 10 | g.80274553T>C | CA377360323 | MAT1A | c.1052A>G (p.Lys351Arg) n.284A>G n.564A>G c.929A>G (p.Lys310Arg) | dbSNP |
| 10 | g.80274553T>G | CA377360324 | MAT1A | c.1052A>C (p.Lys351Thr) n.284A>C n.564A>C c.929A>C (p.Lys310Thr) | |
| 10 | g.80274553T= | CA1922577870 | MAT1A | c.1052A= (p.Lys351=) n.284A= n.564A= c.929A= (p.Lys310=) | |
| 10 | g.80274554T>A | CA377360325 | MAT1A | c.1051A>T (p.Lys351Ter) n.283A>T n.563A>T c.928A>T (p.Lys310Ter) | |
| 10 | g.80274554T>C | CA377360326 | MAT1A | c.1051A>G (p.Lys351Glu) n.283A>G n.563A>G c.928A>G (p.Lys310Glu) | |
| 10 | g.80274554T>G | CA377360327 | MAT1A | c.1051A>C (p.Lys351Gln) n.283A>C n.563A>C c.928A>C (p.Lys310Gln) | |
| 10 | g.80274555A>C | CA377360328 | MAT1A | c.1050T>G (p.His350Gln) n.282T>G n.562T>G c.927T>G (p.His309Gln) | |
| 10 | g.80274555A>G | CA470467227 | MAT1A | c.1050T>C (p.His350=) n.282T>C n.562T>C c.927T>C (p.His309=) | |
| 10 | g.80274555A>T | CA377360329 | MAT1A | c.1050T>A (p.His350Gln) n.282T>A n.562T>A c.927T>A (p.His309Gln) | |
| 10 | g.80274556T>A | CA377360330 | MAT1A | c.1049A>T (p.His350Leu) n.281A>T n.561A>T c.926A>T (p.His309Leu) | |
| 10 | g.80274556T>C | CA210321826 | MAT1A | c.1049A>G (p.His350Arg) n.281A>G n.561A>G c.926A>G (p.His309Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274556T>G | CA377360331 | MAT1A | c.1049A>C (p.His350Pro) n.281A>C n.561A>C c.926A>C (p.His309Pro) | |
| 10 | g.80274556T= | CA1922577872 | MAT1A | c.1049A= (p.His350=) n.281A= n.561A= c.926A= (p.His309=) | |
| 10 | g.80274557G>A | CA377360332 | MAT1A | c.1048C>T (p.His350Tyr) n.280C>T n.560C>T c.925C>T (p.His309Tyr) | |
| 10 | g.80274557G>C | CA377360333 | MAT1A | c.1048C>G (p.His350Asp) n.280C>G n.560C>G c.925C>G (p.His309Asp) | |
| 10 | g.80274557G>T | CA377360334 | MAT1A | c.1048C>A (p.His350Asn) n.280C>A n.560C>A c.925C>A (p.His309Asn) | |
| 10 | g.80274558C>A | CA470467228 | MAT1A | c.1047G>T (p.Val349=) n.279G>T n.559G>T c.924G>T (p.Val308=) | |
| 10 | g.80274558C>G | CA470467229 | MAT1A | c.1047G>C (p.Val349=) n.279G>C n.559G>C c.924G>C (p.Val308=) | |
| 10 | g.80274558C>T | CA470467230 | MAT1A | c.1047G>A (p.Val349=) n.279G>A n.559G>A c.924G>A (p.Val308=) | |
| 10 | g.80274559A>C | CA377360335 | MAT1A | c.1046T>G (p.Val349Gly) n.278T>G n.558T>G c.923T>G (p.Val308Gly) | |
| 10 | g.80274559A>G | CA377360336 | MAT1A | c.1046T>C (p.Val349Ala) n.278T>C n.558T>C c.923T>C (p.Val308Ala) | ClinVar |
| 10 | g.80274559A>T | CA377360337 | MAT1A | c.1046T>A (p.Val349Glu) n.278T>A n.558T>A c.923T>A (p.Val308Glu) | |
| 10 | g.80274560C>A | CA377360338 | MAT1A | c.1045G>T (p.Val349Leu) n.277G>T n.557G>T c.922G>T (p.Val308Leu) | |
| 10 | g.80274560C>G | CA377360339 | MAT1A | c.1045G>C (p.Val349Leu) n.277G>C n.557G>C c.922G>C (p.Val308Leu) | |
| 10 | g.80274560C>T | CA377360340 | MAT1A | c.1045G>A (p.Val349Met) n.277G>A n.557G>A c.922G>A (p.Val308Met) | |
| 10 | g.80274560_80274562delinsCCA | CA1922577874 | MAT1A | c.1043_1045delinsTGG (p.Val348=) n.275_277delinsTGG n.555_557delinsTGG c.920_922delinsTGG (p.Val307=) | |
| 10 | g.80274561C>A | CA470467231 | MAT1A | c.1044G>T (p.Val348=) n.276G>T n.556G>T c.921G>T (p.Val307=) | dbSNP |
| 10 | g.80274561C= | CA1922577876 | MAT1A | c.1044G= (p.Val348=) n.276G= n.556G= c.921G= (p.Val307=) | |
| 10 | g.80274561C>G | CA470467232 | MAT1A | c.1044G>C (p.Val348=) n.276G>C n.556G>C c.921G>C (p.Val307=) | gnomAD v4 |
| 10 | g.80274561C>T | CA470467233 | MAT1A | c.1044G>A (p.Val348=) n.276G>A n.556G>A c.921G>A (p.Val307=) | |
| 10 | g.80274563_80274564del | CA594460387 | MAT1A | c.1043_1044del (p.Val348GlyfsTer3) n.275_276del n.555_556del c.920_921del (p.Val307GlyfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274562A>C | CA377360342 | MAT1A | c.1043T>G (p.Val348Gly) n.275T>G n.555T>G c.920T>G (p.Val307Gly) | |
| 10 | g.80274562A>G | CA377360343 | MAT1A | c.1043T>C (p.Val348Ala) n.275T>C n.555T>C c.920T>C (p.Val307Ala) | |
| 10 | g.80274562A>T | CA377360341 | MAT1A | c.1043T>A (p.Val348Glu) n.275T>A n.555T>A c.920T>A (p.Val307Glu) | |
| 10 | g.80274562_80274563delinsAC | CA1922577877 | MAT1A | c.1042_1043delinsGT (p.Val348=) n.274_275delinsGT n.554_555delinsGT c.919_920delinsGT (p.Val307=) | |
| 10 | g.80274563del | CA668885027 | MAT1A | c.1042del (p.Val348TrpfsTer19) n.274del n.554del c.919del (p.Val307TrpfsTer19) | ClinVar dbSNP |
| 10 | g.80274563C>A | CA377360344 | MAT1A | c.1042G>T (p.Val348Leu) n.274G>T n.554G>T c.919G>T (p.Val307Leu) | gnomAD v4 |
| 10 | g.80274563C>G | CA377360345 | MAT1A | c.1042G>C (p.Val348Leu) n.274G>C n.554G>C c.919G>C (p.Val307Leu) | |
| 10 | g.80274563C>T | CA377360346 | MAT1A | c.1042G>A (p.Val348Met) n.274G>A n.554G>A c.919G>A (p.Val307Met) | gnomAD v4 |
| 10 | g.80274564A= | CA1922577879 | MAT1A | c.1041T= (p.Asp347=) n.273T= n.553T= c.918T= (p.Asp306=) | |
| 10 | g.80274564A>C | CA377360347 | MAT1A | c.1041T>G (p.Asp347Glu) n.273T>G n.553T>G c.918T>G (p.Asp306Glu) | gnomAD v4 |
| 10 | g.80274564A>G | CA470467234 | MAT1A | c.1041T>C (p.Asp347=) n.273T>C n.553T>C c.918T>C (p.Asp306=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274564A>T | CA377360348 | MAT1A | c.1041T>A (p.Asp347Glu) n.273T>A n.553T>A c.918T>A (p.Asp306Glu) | |
| 10 | g.80274565T>A | CA377360349 | MAT1A | c.1040A>T (p.Asp347Val) n.272A>T n.552A>T c.917A>T (p.Asp306Val) | |
| 10 | g.80274565T>C | CA377360350 | MAT1A | c.1040A>G (p.Asp347Gly) n.272A>G n.552A>G c.917A>G (p.Asp306Gly) | |
| 10 | g.80274565T>G | CA377360351 | MAT1A | c.1040A>C (p.Asp347Ala) n.272A>C n.552A>C c.917A>C (p.Asp306Ala) | |
| 10 | g.80274566C>A | CA377360352 | MAT1A | c.1039G>T (p.Asp347Tyr) n.271G>T n.551G>T c.916G>T (p.Asp306Tyr) | |
| 10 | g.80274566C>G | CA377360353 | MAT1A | c.1039G>C (p.Asp347His) n.271G>C n.551G>C c.916G>C (p.Asp306His) | |
| 10 | g.80274566C>T | CA377360354 | MAT1A | c.1039G>A (p.Asp347Asn) n.271G>A n.551G>A c.916G>A (p.Asp306Asn) | |
| 10 | g.80274567C>A | CA470467236 | MAT1A | c.1038G>T (p.Leu346=) n.270G>T n.550G>T c.915G>T (p.Leu305=) | |
| 10 | g.80274567C>G | CA470467237 | MAT1A | c.1038G>C (p.Leu346=) n.270G>C n.550G>C c.915G>C (p.Leu305=) | |
| 10 | g.80274567C>T | CA470467235 | MAT1A | c.1038G>A (p.Leu346=) n.270G>A n.550G>A c.915G>A (p.Leu305=) | |
| 10 | g.80274568A>C | CA377360355 | MAT1A | c.1037T>G (p.Leu346Arg) n.269T>G n.549T>G c.914T>G (p.Leu305Arg) | |
| 10 | g.80274568A>G | CA377360356 | MAT1A | c.1037T>C (p.Leu346Pro) n.269T>C n.549T>C c.914T>C (p.Leu305Pro) | |
| 10 | g.80274568A>T | CA377360357 | MAT1A | c.1037T>A (p.Leu346Gln) n.269T>A n.549T>A c.914T>A (p.Leu305Gln) | |
| 10 | g.80274569G>A | CA470467238 | MAT1A | c.1036C>T (p.Leu346=) n.268C>T n.548C>T c.913C>T (p.Leu305=) | |
| 10 | g.80274569G>C | CA377360358 | MAT1A | c.1036C>G (p.Leu346Val) n.268C>G n.548C>G c.913C>G (p.Leu305Val) | |
| 10 | g.80274569G= | CA1922577881 | MAT1A | c.1036C= (p.Leu346=) n.268C= n.548C= c.913C= (p.Leu305=) | |
| 10 | g.80274569G>T | CA5576626 | MAT1A | c.1036C>A (p.Leu346Met) n.268C>A n.548C>A c.913C>A (p.Leu305Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274570C>A | CA210321842 | MAT1A | c.1035G>T (p.Leu345=) n.267G>T n.547G>T c.912G>T (p.Leu304=) | dbSNP |
| 10 | g.80274570C= | CA1922577883 | MAT1A | c.1035G= (p.Leu345=) n.267G= n.547G= c.912G= (p.Leu304=) | |
| 10 | g.80274570C>G | CA470467239 | MAT1A | c.1035G>C (p.Leu345=) n.267G>C n.547G>C c.912G>C (p.Leu304=) | |
| 10 | g.80274570C>T | CA470467240 | MAT1A | c.1035G>A (p.Leu345=) n.267G>A n.547G>A c.912G>A (p.Leu304=) | |
| 10 | g.80274571A>C | CA377360359 | MAT1A | c.1034T>G (p.Leu345Arg) n.266T>G n.546T>G c.911T>G (p.Leu304Arg) | |
| 10 | g.80274571A>G | CA377360360 | MAT1A | c.1034T>C (p.Leu345Pro) n.266T>C n.546T>C c.911T>C (p.Leu304Pro) | |
| 10 | g.80274571A>T | CA377360361 | MAT1A | c.1034T>A (p.Leu345Gln) n.266T>A n.546T>A c.911T>A (p.Leu304Gln) | |
| 10 | g.80274571_80274572insC | CA2695203381 | MAT1A | c.1033_1034insG (p.Leu345ArgfsTer7) n.265_266insG n.545_546insG c.910_911insG (p.Leu304ArgfsTer7) | |
| 10 | g.80274572G>A | CA470467241 | MAT1A | c.1033C>T (p.Leu345=) n.265C>T n.545C>T c.910C>T (p.Leu304=) | gnomAD v4 |
| 10 | g.80274572G>C | CA377360362 | MAT1A | c.1033C>G (p.Leu345Val) n.265C>G n.545C>G c.910C>G (p.Leu304Val) | |
| 10 | g.80274572G>T | CA377360363 | MAT1A | c.1033C>A (p.Leu345Met) n.265C>A n.545C>A c.910C>A (p.Leu304Met) | |
| 10 | g.80274573C>A | CA377360365 | MAT1A | c.1032G>T (p.Glu344Asp) n.264G>T n.544G>T c.909G>T (p.Glu303Asp) | |
| 10 | g.80274573C= | CA1922577885 | MAT1A | c.1032G= (p.Glu344=) n.264G= n.544G= c.909G= (p.Glu303=) | |
| 10 | g.80274573C>G | CA377360364 | MAT1A | c.1032G>C (p.Glu344Asp) n.264G>C n.544G>C c.909G>C (p.Glu303Asp) | |
| 10 | g.80274573C>T | CA5576627 | MAT1A | c.1032G>A (p.Glu344=) n.264G>A n.544G>A c.909G>A (p.Glu303=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274573dup | CA2574455133 | MAT1A | c.1032dup (p.Leu345AlafsTer7) n.264dup n.544dup c.909dup (p.Leu304AlafsTer7) | gnomAD v4 |
| 10 | g.80274574T>A | CA377360366 | MAT1A | c.1031A>T (p.Glu344Val) n.263A>T n.543A>T c.908A>T (p.Glu303Val) | |
| 10 | g.80274574T>C | CA377360367 | MAT1A | c.1031A>G (p.Glu344Gly) n.263A>G n.543A>G c.908A>G (p.Glu303Gly) | |
| 10 | g.80274574T>G | CA377360368 | MAT1A | c.1031A>C (p.Glu344Ala) n.263A>C n.543A>C c.908A>C (p.Glu303Ala) | |
| 10 | g.80274575C>A | CA377360369 | MAT1A | c.1030G>T (p.Glu344Ter) n.262G>T n.542G>T c.907G>T (p.Glu303Ter) | |
| 10 | g.80274575C= | CA1922577887 | MAT1A | c.1030G= (p.Glu344=) n.262G= n.542G= c.907G= (p.Glu303=) | |
| 10 | g.80274575C>G | CA377360370 | MAT1A | c.1030G>C (p.Glu344Gln) n.262G>C n.542G>C c.907G>C (p.Glu303Gln) | |
| 10 | g.80274575C>T | CA377360371 | MAT1A | c.1030G>A (p.Glu344Lys) n.262G>A n.542G>A c.907G>A (p.Glu303Lys) | dbSNP |
| 10 | g.80274576T>A | CA470467242 | MAT1A | c.1029A>T (p.Arg343=) n.261A>T n.541A>T c.906A>T (p.Arg302=) | |
| 10 | g.80274576T>C | CA470467243 | MAT1A | c.1029A>G (p.Arg343=) n.261A>G n.541A>G c.906A>G (p.Arg302=) | |
| 10 | g.80274576T>G | CA470467244 | MAT1A | c.1029A>C (p.Arg343=) n.261A>C n.541A>C c.906A>C (p.Arg302=) | |
| 10 | g.80274577C>A | CA377360372 | MAT1A | c.1028G>T (p.Arg343Leu) n.260G>T n.540G>T c.905G>T (p.Arg302Leu) | |
| 10 | g.80274577C= | CA1922577889 | MAT1A | c.1028G= (p.Arg343=) n.260G= n.540G= c.905G= (p.Arg302=) | |
| 10 | g.80274577C>G | CA377360373 | MAT1A | c.1028G>C (p.Arg343Pro) n.260G>C n.540G>C c.905G>C (p.Arg302Pro) | |
| 10 | g.80274577C>T | CA5576628 | MAT1A | c.1028G>A (p.Arg343Gln) n.260G>A n.540G>A c.905G>A (p.Arg302Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80274578G>A | CA377360374 | MAT1A | c.1027C>T (p.Arg343Ter) n.259C>T n.539C>T c.904C>T (p.Arg302Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80274578G>C | CA377360375 | MAT1A | c.1027C>G (p.Arg343Gly) n.259C>G n.539C>G c.904C>G (p.Arg302Gly) | |
| 10 | g.80274578G= | CA1922577891 | MAT1A | c.1027C= (p.Arg343=) n.259C= n.539C= c.904C= (p.Arg302=) | |
| 10 | g.80274578G>T | CA470467245 | MAT1A | c.1027C>A (p.Arg343=) n.259C>A n.539C>A c.904C>A (p.Arg302=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274579C>A | CA377360376 | MAT1A | c.1026G>T (p.Glu342Asp) n.258G>T n.538G>T c.903G>T (p.Glu301Asp) | |
| 10 | g.80274579C= | CA1922577892 | MAT1A | c.1026G= (p.Glu342=) n.258G= n.538G= c.903G= (p.Glu301=) | |
| 10 | g.80274579C>G | CA377360377 | MAT1A | c.1026G>C (p.Glu342Asp) n.258G>C n.538G>C c.903G>C (p.Glu301Asp) | |
| 10 | g.80274579C>T | CA5576629 | MAT1A | c.1026G>A (p.Glu342=) n.258G>A n.538G>A c.903G>A (p.Glu301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274580T>A | CA377360380 | MAT1A | c.1025A>T (p.Glu342Val) n.257A>T n.537A>T c.902A>T (p.Glu301Val) | |
| 10 | g.80274580T>C | CA377360379 | MAT1A | c.1025A>G (p.Glu342Gly) n.257A>G n.537A>G c.902A>G (p.Glu301Gly) | |
| 10 | g.80274580T>G | CA377360378 | MAT1A | c.1025A>C (p.Glu342Ala) n.257A>C n.537A>C c.902A>C (p.Glu301Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274580T= | CA1922577894 | MAT1A | c.1025A= (p.Glu342=) n.257A= n.537A= c.902A= (p.Glu301=) | |
| 10 | g.80274581C>A | CA377360381 | MAT1A | c.1024G>T (p.Glu342Ter) n.256G>T n.536G>T c.901G>T (p.Glu301Ter) | gnomAD v4 |
| 10 | g.80274581C= | CA1922577895 | MAT1A | c.1024G= (p.Glu342=) n.256G= n.536G= c.901G= (p.Glu301=) | |
| 10 | g.80274581C>G | CA5576630 | MAT1A | c.1024G>C (p.Glu342Gln) n.256G>C n.536G>C c.901G>C (p.Glu301Gln) | dbSNP ExAC gnomAD v2 |
| 10 | g.80274581C>T | CA377360382 | MAT1A | c.1024G>A (p.Glu342Lys) n.256G>A n.536G>A c.901G>A (p.Glu301Lys) | gnomAD v4 |
| 10 | g.80274582T>A | CA470467246 | MAT1A | c.1023A>T (p.Thr341=) n.255A>T n.535A>T c.900A>T (p.Thr300=) | |
| 10 | g.80274582T>C | CA470467247 | MAT1A | c.1023A>G (p.Thr341=) n.255A>G n.535A>G c.900A>G (p.Thr300=) | |
| 10 | g.80274582T>G | CA470467248 | MAT1A | c.1023A>C (p.Thr341=) n.255A>C n.535A>C c.900A>C (p.Thr300=) | |
| 10 | g.80274583G>A | CA5576631 | MAT1A | c.1022C>T (p.Thr341Ile) n.254C>T n.534C>T c.899C>T (p.Thr300Ile) | dbSNP ExAC gnomAD v2 |
| 10 | g.80274583G>C | CA377360383 | MAT1A | c.1022C>G (p.Thr341Arg) n.254C>G n.534C>G c.899C>G (p.Thr300Arg) | |
| 10 | g.80274583G= | CA1922577898 | MAT1A | c.1022C= (p.Thr341=) n.254C= n.534C= c.899C= (p.Thr300=) | |
| 10 | g.80274583G>T | CA377360384 | MAT1A | c.1022C>A (p.Thr341Lys) n.254C>A n.534C>A c.899C>A (p.Thr300Lys) | COSMIC |
| 10 | g.80274584T>A | CA377360385 | MAT1A | c.1021A>T (p.Thr341Ser) n.253A>T n.533A>T c.898A>T (p.Thr300Ser) | |
| 10 | g.80274584T>C | CA5576632 | MAT1A | c.1021A>G (p.Thr341Ala) n.253A>G n.533A>G c.898A>G (p.Thr300Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274584T>G | CA377360386 | MAT1A | c.1021A>C (p.Thr341Pro) n.253A>C n.533A>C c.898A>C (p.Thr300Pro) | |
| 10 | g.80274584T= | CA1922577899 | MAT1A | c.1021A= (p.Thr341=) n.253A= n.533A= c.898A= (p.Thr300=) | |
| 10 | g.80274585C>A | CA377360387 | MAT1A | c.1020G>T (p.Lys340Asn) n.252G>T n.532G>T c.897G>T (p.Lys299Asn) | |
| 10 | g.80274585C>G | CA377360388 | MAT1A | c.1020G>C (p.Lys340Asn) n.252G>C n.532G>C c.897G>C (p.Lys299Asn) | |
| 10 | g.80274585C>T | CA470467249 | MAT1A | c.1020G>A (p.Lys340=) n.252G>A n.532G>A c.897G>A (p.Lys299=) | |
| 10 | g.80274586T>A | CA377360389 | MAT1A | c.1019A>T (p.Lys340Met) n.251A>T n.531A>T c.896A>T (p.Lys299Met) | |
| 10 | g.80274586T>C | CA377360390 | MAT1A | c.1019A>G (p.Lys340Arg) n.251A>G n.531A>G c.896A>G (p.Lys299Arg) | |
| 10 | g.80274586T>G | CA377360391 | MAT1A | c.1019A>C (p.Lys340Thr) n.251A>C n.531A>C c.896A>C (p.Lys299Thr) | dbSNP |
| 10 | g.80274586T= | CA1922577901 | MAT1A | c.1019A= (p.Lys340=) n.251A= n.531A= c.896A= (p.Lys299=) | |
| 10 | g.80274587T>A | CA5576633 | MAT1A | c.1018A>T (p.Lys340Ter) n.250A>T n.530A>T c.895A>T (p.Lys299Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274587T>C | CA377360392 | MAT1A | c.1018A>G (p.Lys340Glu) n.250A>G n.530A>G c.895A>G (p.Lys299Glu) | |
| 10 | g.80274587T>G | CA377360393 | MAT1A | c.1018A>C (p.Lys340Gln) n.250A>C n.530A>C c.895A>C (p.Lys299Gln) | |
| 10 | g.80274587T= | CA1922577903 | MAT1A | c.1018A= (p.Lys340=) n.250A= n.530A= c.895A= (p.Lys299=) | |
| 10 | g.80274588C>A | CA377360394 | MAT1A | c.1017G>T (p.Gln339His) n.249G>T n.529G>T c.894G>T (p.Gln298His) | |
| 10 | g.80274588C= | CA1922577904 | MAT1A | c.1017G= (p.Gln339=) n.249G= n.529G= c.894G= (p.Gln298=) | |
| 10 | g.80274588C>G | CA377360395 | MAT1A | c.1017G>C (p.Gln339His) n.249G>C n.529G>C c.894G>C (p.Gln298His) | |
| 10 | g.80274588C>T | CA5576634 | MAT1A | c.1017G>A (p.Gln339=) n.249G>A n.529G>A c.894G>A (p.Gln298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274589T>A | CA377360398 | MAT1A | c.1016A>T (p.Gln339Leu) n.248A>T n.528A>T c.893A>T (p.Gln298Leu) | |
| 10 | g.80274589T>C | CA377360397 | MAT1A | c.1016A>G (p.Gln339Arg) n.248A>G n.528A>G c.893A>G (p.Gln298Arg) | |
| 10 | g.80274589T>G | CA377360396 | MAT1A | c.1016A>C (p.Gln339Pro) n.248A>C n.528A>C c.893A>C (p.Gln298Pro) | dbSNP gnomAD v4 |
| 10 | g.80274589T= | CA1922577906 | MAT1A | c.1016A= (p.Gln339=) n.248A= n.528A= c.893A= (p.Gln298=) | |
| 10 | g.80274590G>A | CA377360399 | MAT1A | c.1015C>T (p.Gln339Ter) n.247C>T n.527C>T c.892C>T (p.Gln298Ter) | |
| 10 | g.80274590G>C | CA377360401 | MAT1A | c.1015C>G (p.Gln339Glu) n.247C>G n.527C>G c.892C>G (p.Gln298Glu) | |
| 10 | g.80274590G>T | CA377360400 | MAT1A | c.1015C>A (p.Gln339Lys) n.247C>A n.527C>A c.892C>A (p.Gln298Lys) | gnomAD v4 |
| 10 | g.80274591A>C | CA470467252 | MAT1A | c.1014T>G (p.Ser338=) n.246T>G n.526T>G c.891T>G (p.Ser297=) | |
| 10 | g.80274591A>G | CA470467251 | MAT1A | c.1014T>C (p.Ser338=) n.246T>C n.526T>C c.891T>C (p.Ser297=) | |
| 10 | g.80274591A>T | CA470467250 | MAT1A | c.1014T>A (p.Ser338=) n.246T>A n.526T>A c.891T>A (p.Ser297=) | |
| 10 | g.80274592G>A | CA377360402 | MAT1A | c.1013C>T (p.Ser338Phe) n.245C>T n.525C>T c.890C>T (p.Ser297Phe) | |
| 10 | g.80274592G>C | CA377360404 | MAT1A | c.1013C>G (p.Ser338Cys) n.245C>G n.525C>G c.890C>G (p.Ser297Cys) | |
| 10 | g.80274592G>T | CA377360403 | MAT1A | c.1013C>A (p.Ser338Tyr) n.245C>A n.525C>A c.890C>A (p.Ser297Tyr) | |
| 10 | g.80274593A>C | CA377360405 | MAT1A | c.1012T>G (p.Ser338Ala) n.244T>G n.524T>G c.889T>G (p.Ser297Ala) | |
| 10 | g.80274593A>G | CA377360407 | MAT1A | c.1012T>C (p.Ser338Pro) n.244T>C n.524T>C c.889T>C (p.Ser297Pro) | |
| 10 | g.80274593A>T | CA377360406 | MAT1A | c.1012T>A (p.Ser338Thr) n.244T>A n.524T>A c.889T>A (p.Ser297Thr) | |
| 10 | g.80274594G>A | CA470467253 | MAT1A | c.1011C>T (p.Thr337=) n.243C>T n.523C>T c.888C>T (p.Thr296=) | |
| 10 | g.80274594G>C | CA470467255 | MAT1A | c.1011C>G (p.Thr337=) n.243C>G n.523C>G c.888C>G (p.Thr296=) | gnomAD v4 |
| 10 | g.80274594G>T | CA470467254 | MAT1A | c.1011C>A (p.Thr337=) n.243C>A n.523C>A c.888C>A (p.Thr296=) | |
| 10 | g.80274595G>A | CA377360408 | MAT1A | c.1010C>T (p.Thr337Ile) n.242C>T n.522C>T c.887C>T (p.Thr296Ile) | |
| 10 | g.80274595G>C | CA377360409 | MAT1A | c.1010C>G (p.Thr337Ser) n.242C>G n.522C>G c.887C>G (p.Thr296Ser) | |
| 10 | g.80274595G= | CA1922577908 | MAT1A | c.1010C= (p.Thr337=) n.242C= n.522C= c.887C= (p.Thr296=) | |
| 10 | g.80274595G>T | CA5576635 | MAT1A | c.1010C>A (p.Thr337Asn) n.242C>A n.522C>A c.887C>A (p.Thr296Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274596T>A | CA377360410 | MAT1A | c.1009A>T (p.Thr337Ser) n.241A>T n.521A>T c.886A>T (p.Thr296Ser) | |
| 10 | g.80274596T>C | CA377360411 | MAT1A | c.1009A>G (p.Thr337Ala) n.241A>G n.521A>G c.886A>G (p.Thr296Ala) | |
| 10 | g.80274596T>G | CA377360412 | MAT1A | c.1009A>C (p.Thr337Pro) n.241A>C n.521A>C c.886A>C (p.Thr296Pro) | |
| 10 | g.80274597T>A | CA470467256 | MAT1A | c.1008A>T (p.Gly336=) n.240A>T n.520A>T c.885A>T (p.Gly295=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274597T>C | CA470467257 | MAT1A | c.1008A>G (p.Gly336=) n.240A>G n.520A>G c.885A>G (p.Gly295=) | |
| 10 | g.80274597T>G | CA470467258 | MAT1A | c.1008A>C (p.Gly336=) n.240A>C n.520A>C c.885A>C (p.Gly295=) | |
| 10 | g.80274597T= | CA1922577909 | MAT1A | c.1008A= (p.Gly336=) n.240A= n.520A= c.885A= (p.Gly295=) | |
| 10 | g.80274598C>A | CA377360413 | MAT1A | c.1007G>T (p.Gly336Val) n.239G>T n.519G>T c.884G>T (p.Gly295Val) | |
| 10 | g.80274598C>G | CA377360414 | MAT1A | c.1007G>C (p.Gly336Ala) n.239G>C n.519G>C c.884G>C (p.Gly295Ala) | |
| 10 | g.80274598C>T | CA377360415 | MAT1A | c.1007G>A (p.Gly336Glu) n.239G>A n.519G>A c.884G>A (p.Gly295Glu) | |
| 10 | g.80274599C>A | CA377360416 | MAT1A | c.1006G>T (p.Gly336Ter) n.238G>T n.518G>T c.883G>T (p.Gly295Ter) | |
| 10 | g.80274599C= | CA1922577912 | MAT1A | c.1006G= (p.Gly336=) n.238G= n.518G= c.883G= (p.Gly295=) | |
| 10 | g.80274599C>G | CA377360417 | MAT1A | c.1006G>C (p.Gly336Arg) n.238G>C n.518G>C c.883G>C (p.Gly295Arg) | |
| 10 | g.80274599C>T | CA114842 | MAT1A | c.1006G>A (p.Gly336Arg) n.238G>A n.518G>A c.883G>A (p.Gly295Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274600G>A | CA5576636 | MAT1A | c.1005C>T (p.Tyr335=) n.237C>T n.517C>T c.882C>T (p.Tyr294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274600G>C | CA377360418 | MAT1A | c.1005C>G (p.Tyr335Ter) n.237C>G n.517C>G c.882C>G (p.Tyr294Ter) | |
| 10 | g.80274600G= | CA1922577915 | MAT1A | c.1005C= (p.Tyr335=) n.237C= n.517C= c.882C= (p.Tyr294=) | |
| 10 | g.80274600G>T | CA377360419 | MAT1A | c.1005C>A (p.Tyr335Ter) n.237C>A n.517C>A c.882C>A (p.Tyr294Ter) | |
| 10 | g.80274601T>A | CA377360420 | MAT1A | c.1004A>T (p.Tyr335Phe) n.236A>T n.516A>T c.881A>T (p.Tyr294Phe) | |
| 10 | g.80274601T>C | CA377360422 | MAT1A | c.1004A>G (p.Tyr335Cys) n.236A>G n.516A>G c.881A>G (p.Tyr294Cys) | gnomAD v4 |
| 10 | g.80274601T>G | CA377360421 | MAT1A | c.1004A>C (p.Tyr335Ser) n.236A>C n.516A>C c.881A>C (p.Tyr294Ser) | |
| 10 | g.80274602A= | CA1922577918 | MAT1A | c.1003T= (p.Tyr335=) n.235T= n.515T= c.880T= (p.Tyr294=) | |
| 10 | g.80274602A>C | CA377360423 | MAT1A | c.1003T>G (p.Tyr335Asp) n.235T>G n.515T>G c.880T>G (p.Tyr294Asp) | |
| 10 | g.80274602A>G | CA5576637 | MAT1A | c.1003T>C (p.Tyr335His) n.235T>C n.515T>C c.880T>C (p.Tyr294His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274602A>T | CA377360424 | MAT1A | c.1003T>A (p.Tyr335Asn) n.235T>A n.515T>A c.880T>A (p.Tyr294Asn) | |
| 10 | g.80274603G>A | CA5576638 | MAT1A | c.1002C>T (p.Thr334=) n.234C>T n.514C>T c.879C>T (p.Thr293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274603G>C | CA470467259 | MAT1A | c.1002C>G (p.Thr334=) n.234C>G n.514C>G c.879C>G (p.Thr293=) | |
| 10 | g.80274603G= | CA1922577920 | MAT1A | c.1002C= (p.Thr334=) n.234C= n.514C= c.879C= (p.Thr293=) | |
| 10 | g.80274603G>T | CA470467260 | MAT1A | c.1002C>A (p.Thr334=) n.234C>A n.514C>A c.879C>A (p.Thr293=) | COSMIC |
| 10 | g.80274604G>A | CA377360425 | MAT1A | c.1001C>T (p.Thr334Ile) n.233C>T n.513C>T c.878C>T (p.Thr293Ile) | |
| 10 | g.80274604G>C | CA377360426 | MAT1A | c.1001C>G (p.Thr334Ser) n.233C>G n.513C>G c.878C>G (p.Thr293Ser) | |
| 10 | g.80274604G>T | CA377360427 | MAT1A | c.1001C>A (p.Thr334Asn) n.233C>A n.513C>A c.878C>A (p.Thr293Asn) | |
| 10 | g.80274605T>A | CA377360428 | MAT1A | c.1000A>T (p.Thr334Ser) n.232A>T n.512A>T c.877A>T (p.Thr293Ser) | |
| 10 | g.80274605T>C | CA5576639 | MAT1A | c.1000A>G (p.Thr334Ala) n.232A>G n.512A>G c.877A>G (p.Thr293Ala) | dbSNP ExAC |
| 10 | g.80274605T>G | CA377360429 | MAT1A | c.1000A>C (p.Thr334Pro) n.232A>C n.512A>C c.877A>C (p.Thr293Pro) | |
| 10 | g.80274605T= | CA1922577921 | MAT1A | c.1000A= (p.Thr334=) n.232A= n.512A= c.877A= (p.Thr293=) | |
| 10 | g.80274606G>A | CA470467261 | MAT1A | c.999C>T (p.Phe333=) n.231C>T n.511C>T c.876C>T (p.Phe292=) | gnomAD v4 |
| 10 | g.80274606G>C | CA377360431 | MAT1A | c.999C>G (p.Phe333Leu) n.231C>G n.511C>G c.876C>G (p.Phe292Leu) | |
| 10 | g.80274606G>T | CA377360430 | MAT1A | c.999C>A (p.Phe333Leu) n.231C>A n.511C>A c.876C>A (p.Phe292Leu) | |
| 10 | g.80274607A>C | CA377360432 | MAT1A | c.998T>G (p.Phe333Cys) n.230T>G n.510T>G c.875T>G (p.Phe292Cys) | |
| 10 | g.80274607A>G | CA377360433 | MAT1A | c.998T>C (p.Phe333Ser) n.230T>C n.510T>C c.875T>C (p.Phe292Ser) | |
| 10 | g.80274607A>T | CA377360434 | MAT1A | c.998T>A (p.Phe333Tyr) n.230T>A n.510T>A c.875T>A (p.Phe292Tyr) | |
| 10 | g.80274608A>C | CA377360435 | MAT1A | c.997T>G (p.Phe333Val) n.229T>G n.509T>G c.874T>G (p.Phe292Val) | COSMIC |
| 10 | g.80274608A>G | CA377360436 | MAT1A | c.997T>C (p.Phe333Leu) n.229T>C n.509T>C c.874T>C (p.Phe292Leu) | |
| 10 | g.80274608A>T | CA377360437 | MAT1A | c.997T>A (p.Phe333Ile) n.229T>A n.509T>A c.874T>A (p.Phe292Ile) | |
| 10 | g.80274609G>A | CA5576640 | MAT1A | c.996C>T (p.Ile332=) n.228C>T n.508C>T c.873C>T (p.Ile291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274609G>C | CA377360438 | MAT1A | c.996C>G (p.Ile332Met) n.228C>G n.508C>G c.873C>G (p.Ile291Met) | |
| 10 | g.80274609G= | CA1922572892 | MAT1A | c.996C= (p.Ile332=) n.228C= n.508C= c.873C= (p.Ile291=) | |
| 10 | g.80274609G>T | CA470467262 | MAT1A | c.996C>A (p.Ile332=) n.228C>A n.508C>A c.873C>A (p.Ile291=) | |
| 10 | g.80274610A>C | CA377360439 | MAT1A | c.995T>G (p.Ile332Ser) n.227T>G n.507T>G c.872T>G (p.Ile291Ser) | |
| 10 | g.80274610A>G | CA377360440 | MAT1A | c.995T>C (p.Ile332Thr) n.227T>C n.507T>C c.872T>C (p.Ile291Thr) | |
| 10 | g.80274610A>T | CA377360441 | MAT1A | c.995T>A (p.Ile332Asn) n.227T>A n.507T>A c.872T>A (p.Ile291Asn) |