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 |
|---|---|---|---|---|---|
| 2 | g.47795896_47805709del | CA658655622 | FBXO11,MSH6 | c.163_3349+2del c.460_3262+2del n.544_4320+2del c.460_2080+2del c.460_3652+2del c.460_1101+2del c.460_3646+2del c.238-2715_3256+2del c.169+2491_170-6451del (n.169+2491_170-6451del) c.*124+2290_*125-6451del (n.*124+2290_*125-6451del) c.458-2715_*2993+2del c.-443_2740+2del c.-279-2715_2740+2del c.-2637_550+2del c.277_3463+2del | |
| 2 | g.47799151_47799194dup | CA2695200555 | FBXO11,MSH6 | c.871_914dup (p.Asn305LysfsTer22) c.1168_1211dup (p.Asn404LysfsTer22) n.1252_1295dup c.1174_1217dup (p.Asn406LysfsTer22) c.627+3088_627+3131dup (n.627+3088_627+3131dup) c.325_368dup (p.Asn123LysfsTer22) c.778_821dup (p.Asn274LysfsTer22) c.169+9001_169+9044dup (n.169+9001_169+9044dup) c.*124+8800_*124+8843dup (n.*124+8800_*124+8843dup) c.*515_*558dup (n.*515_*558dup) c.262_305dup (p.Asn102LysfsTer22) c.1165_1208dup (p.Asn403LysfsTer22) c.-1929_-1886dup (n.-1929_-1886dup) c.985_1028dup (p.Asn343LysfsTer22) | ClinVar |
| 2 | g.47799171_47799180del | CA2658950255 | FBXO11,MSH6 | c.891_900del (p.Tyr298ArgfsTer11) c.1188_1197del (p.Tyr397ArgfsTer11) n.1272_1281del c.1194_1203del (p.Tyr399ArgfsTer11) c.627+3108_627+3117del (n.627+3108_627+3117del) c.345_354del (p.Tyr116ArgfsTer11) c.798_807del (p.Tyr267ArgfsTer11) c.169+9017_169+9026del (n.169+9017_169+9026del) c.*124+8816_*124+8825del (n.*124+8816_*124+8825del) c.*535_*544del (n.*535_*544del) c.282_291del (p.Tyr95ArgfsTer11) c.1185_1194del (p.Tyr396ArgfsTer11) c.-1909_-1900del (n.-1909_-1900del) c.1005_1014del (p.Tyr336ArgfsTer11) | gnomAD v4 |
| 2 | g.47799170_47799190delinsTCTATGTGCCTGAGGATTTCC | CA2496048488 | FBXO11,MSH6 | c.890_910delinsTCTATGTGCCTGAGGATTTCC (p.Leu297=) c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (p.Leu396=) n.1271_1291delinsTCTATGTGCCTGAGGATTTCC c.1193_1213delinsTCTATGTGCCTGAGGATTTCC (p.Leu398=) c.627+3107_627+3127delinsTCTATGTGCCTGAGGATTTCC (n.627+3107_627+3127delinsTCTATGTGCCTGAGGATTTCC) c.344_364delinsTCTATGTGCCTGAGGATTTCC (p.Leu115=) c.797_817delinsTCTATGTGCCTGAGGATTTCC (p.Leu266=) c.169+9005_169+9025delinsGGAAATCCTCAGGCACATAGA (n.169+9005_169+9025delinsGGAAATCCTCAGGCACATAGA) c.*124+8804_*124+8824delinsGGAAATCCTCAGGCACATAGA (n.*124+8804_*124+8824delinsGGAAATCCTCAGGCACATAGA) c.*534_*554delinsTCTATGTGCCTGAGGATTTCC (n.*534_*554delinsTCTATGTGCCTGAGGATTTCC) c.281_301delinsTCTATGTGCCTGAGGATTTCC (p.Leu94=) c.1184_1204delinsTCTATGTGCCTGAGGATTTCC (p.Leu395=) c.-1910_-1890delinsTCTATGTGCCTGAGGATTTCC (n.-1910_-1890delinsTCTATGTGCCTGAGGATTTCC) c.1004_1024delinsTCTATGTGCCTGAGGATTTCC (p.Leu335=) | |
| 2 | g.47799171_47799190del | CA1139657009 | FBXO11,MSH6 | c.891_910del (p.Tyr298GlnfsTer14) c.1188_1207del (p.Tyr397GlnfsTer14) n.1272_1291del c.1194_1213del (p.Tyr399GlnfsTer14) c.627+3108_627+3127del (n.627+3108_627+3127del) c.345_364del (p.Tyr116GlnfsTer14) c.798_817del (p.Tyr267GlnfsTer14) c.169+9005_169+9024del (n.169+9005_169+9024del) c.*124+8804_*124+8823del (n.*124+8804_*124+8823del) c.*535_*554del (n.*535_*554del) c.282_301del (p.Tyr95GlnfsTer14) c.1185_1204del (p.Tyr396GlnfsTer14) c.-1909_-1890del (n.-1909_-1890del) c.1005_1024del (p.Tyr336GlnfsTer14) | ClinVar dbSNP |
| 2 | g.47799180T>A | CA426120807 | FBXO11,MSH6 | c.900T>A (p.Pro300=) c.1197T>A (p.Pro399=) n.1281T>A c.1203T>A (p.Pro401=) c.627+3117T>A (n.627+3117T>A) c.354T>A (p.Pro118=) c.807T>A (p.Pro269=) c.169+9015A>T (n.169+9015A>T) c.*124+8814A>T (n.*124+8814A>T) c.*544T>A (n.*544T>A) c.291T>A (p.Pro97=) c.1194T>A (p.Pro398=) c.-1900T>A (n.-1900T>A) c.1014T>A (p.Pro338=) | dbSNP |
| 2 | g.47799180T>C | CA426120809 | FBXO11,MSH6 | c.900T>C (p.Pro300=) c.1197T>C (p.Pro399=) n.1281T>C c.1203T>C (p.Pro401=) c.627+3117T>C (n.627+3117T>C) c.354T>C (p.Pro118=) c.807T>C (p.Pro269=) c.169+9015A>G (n.169+9015A>G) c.*124+8814A>G (n.*124+8814A>G) c.*544T>C (n.*544T>C) c.291T>C (p.Pro97=) c.1194T>C (p.Pro398=) c.-1900T>C (n.-1900T>C) c.1014T>C (p.Pro338=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799180T>G | CA426120808 | FBXO11,MSH6 | c.900T>G (p.Pro300=) c.1197T>G (p.Pro399=) n.1281T>G c.1203T>G (p.Pro401=) c.627+3117T>G (n.627+3117T>G) c.354T>G (p.Pro118=) c.807T>G (p.Pro269=) c.169+9015A>C (n.169+9015A>C) c.*124+8814A>C (n.*124+8814A>C) c.*544T>G (n.*544T>G) c.291T>G (p.Pro97=) c.1194T>G (p.Pro398=) c.-1900T>G (n.-1900T>G) c.1014T>G (p.Pro338=) | dbSNP |
| 2 | g.47799180T= | CA2496048499 | FBXO11,MSH6 | c.900T= (p.Pro300=) c.1197T= (p.Pro399=) n.1281T= c.1203T= (p.Pro401=) c.627+3117T= (n.627+3117T=) c.354T= (p.Pro118=) c.807T= (p.Pro269=) c.169+9015A= (n.169+9015A=) c.*124+8814A= (n.*124+8814A=) c.*544T= (n.*544T=) c.291T= (p.Pro97=) c.1194T= (p.Pro398=) c.-1900T= (n.-1900T=) c.1014T= (p.Pro338=) | |
| 2 | g.47799180_47799202delinsTGAGGATTTCCTCAATTCTTGTA | CA2496048498 | FBXO11,MSH6 | c.900_922delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro300=) c.1197_1219delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro399=) n.1281_1303delinsTGAGGATTTCCTCAATTCTTGTA c.1203_1225delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro401=) c.627+3117_627+3139delinsTGAGGATTTCCTCAATTCTTGTA (n.627+3117_627+3139delinsTGAGGATTTCCTCAATTCTTGTA) c.354_376delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro118=) c.807_829delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro269=) c.169+8993_169+9015delinsTACAAGAATTGAGGAAATCCTCA (n.169+8993_169+9015delinsTACAAGAATTGAGGAAATCCTCA) c.*124+8792_*124+8814delinsTACAAGAATTGAGGAAATCCTCA (n.*124+8792_*124+8814delinsTACAAGAATTGAGGAAATCCTCA) c.*544_*566delinsTGAGGATTTCCTCAATTCTTGTA (n.*544_*566delinsTGAGGATTTCCTCAATTCTTGTA) c.291_313delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro97=) c.1194_1216delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro398=) c.-1900_-1878delinsTGAGGATTTCCTCAATTCTTGTA (n.-1900_-1878delinsTGAGGATTTCCTCAATTCTTGTA) c.1014_1036delinsTGAGGATTTCCTCAATTCTTGTA (p.Pro338=) | |
| 2 | g.47799181G>A | CA346743391 | FBXO11,MSH6 | c.901G>A (p.Glu301Lys) c.1198G>A (p.Glu400Lys) n.1282G>A c.1204G>A (p.Glu402Lys) c.627+3118G>A (n.627+3118G>A) c.355G>A (p.Glu119Lys) c.808G>A (p.Glu270Lys) c.169+9014C>T (n.169+9014C>T) c.*124+8813C>T (n.*124+8813C>T) c.*545G>A (n.*545G>A) c.292G>A (p.Glu98Lys) c.1195G>A (p.Glu399Lys) c.-1899G>A (n.-1899G>A) c.1015G>A (p.Glu339Lys) | dbSNP |
| 2 | g.47799181G>C | CA346743397 | FBXO11,MSH6 | c.901G>C (p.Glu301Gln) c.1198G>C (p.Glu400Gln) n.1282G>C c.1204G>C (p.Glu402Gln) c.627+3118G>C (n.627+3118G>C) c.355G>C (p.Glu119Gln) c.808G>C (p.Glu270Gln) c.169+9014C>G (n.169+9014C>G) c.*124+8813C>G (n.*124+8813C>G) c.*545G>C (n.*545G>C) c.292G>C (p.Glu98Gln) c.1195G>C (p.Glu399Gln) c.-1899G>C (n.-1899G>C) c.1015G>C (p.Glu339Gln) | dbSNP gnomAD v4 |
| 2 | g.47799181G= | CA2496048500 | FBXO11,MSH6 | c.901G= (p.Glu301=) c.1198G= (p.Glu400=) n.1282G= c.1204G= (p.Glu402=) c.627+3118G= (n.627+3118G=) c.355G= (p.Glu119=) c.808G= (p.Glu270=) c.169+9014C= (n.169+9014C=) c.*124+8813C= (n.*124+8813C=) c.*545G= (n.*545G=) c.292G= (p.Glu98=) c.1195G= (p.Glu399=) c.-1899G= (n.-1899G=) c.1015G= (p.Glu339=) | |
| 2 | g.47799181G>T | CA346743399 | FBXO11,MSH6 | c.901G>T (p.Glu301Ter) c.1198G>T (p.Glu400Ter) n.1282G>T c.1204G>T (p.Glu402Ter) c.627+3118G>T (n.627+3118G>T) c.355G>T (p.Glu119Ter) c.808G>T (p.Glu270Ter) c.169+9014C>A (n.169+9014C>A) c.*124+8813C>A (n.*124+8813C>A) c.*545G>T (n.*545G>T) c.292G>T (p.Glu98Ter) c.1195G>T (p.Glu399Ter) c.-1899G>T (n.-1899G>T) c.1015G>T (p.Glu339Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47799181_47799190del | CA2573134911 | FBXO11,MSH6 | c.901_910del (p.Glu301SerfsTer8) c.1198_1207del (p.Glu400SerfsTer8) n.1282_1291del c.1204_1213del (p.Glu402SerfsTer8) c.627+3118_627+3127del (n.627+3118_627+3127del) c.355_364del (p.Glu119SerfsTer8) c.808_817del (p.Glu270SerfsTer8) c.169+9005_169+9014del (n.169+9005_169+9014del) c.*124+8804_*124+8813del (n.*124+8804_*124+8813del) c.*545_*554del (n.*545_*554del) c.292_301del (p.Glu98SerfsTer8) c.1195_1204del (p.Glu399SerfsTer8) c.-1899_-1890del (n.-1899_-1890del) c.1015_1024del (p.Glu339SerfsTer8) | dbSNP |
| 2 | g.47799181_47799202delinsTCATC | CA16617645 | FBXO11,MSH6 | c.901_922delinsTCATC (p.Glu301SerfsTer12) c.1198_1219delinsTCATC (p.Glu400SerfsTer12) n.1282_1303delinsTCATC c.1204_1225delinsTCATC (p.Glu402SerfsTer12) c.627+3118_627+3139delinsTCATC (n.627+3118_627+3139delinsTCATC) c.355_376delinsTCATC (p.Glu119SerfsTer12) c.808_829delinsTCATC (p.Glu270SerfsTer12) c.169+8993_169+9014delinsGATGA (n.169+8993_169+9014delinsGATGA) c.*124+8792_*124+8813delinsGATGA (n.*124+8792_*124+8813delinsGATGA) c.*545_*566delinsTCATC (n.*545_*566delinsTCATC) c.292_313delinsTCATC (p.Glu98SerfsTer12) c.1195_1216delinsTCATC (p.Glu399SerfsTer12) c.-1899_-1878delinsTCATC (n.-1899_-1878delinsTCATC) c.1015_1036delinsTCATC (p.Glu339SerfsTer12) | ClinVar dbSNP |
| 2 | g.47799182A= | CA2496048501 | FBXO11,MSH6 | c.902A= (p.Glu301=) c.1199A= (p.Glu400=) n.1283A= c.1205A= (p.Glu402=) c.627+3119A= (n.627+3119A=) c.356A= (p.Glu119=) c.809A= (p.Glu270=) c.169+9013T= (n.169+9013T=) c.*124+8812T= (n.*124+8812T=) c.*546A= (n.*546A=) c.293A= (p.Glu98=) c.1196A= (p.Glu399=) c.-1898A= (n.-1898A=) c.1016A= (p.Glu339=) | |
| 2 | g.47799182A>C | CA346743408 | FBXO11,MSH6 | c.902A>C (p.Glu301Ala) c.1199A>C (p.Glu400Ala) n.1283A>C c.1205A>C (p.Glu402Ala) c.627+3119A>C (n.627+3119A>C) c.356A>C (p.Glu119Ala) c.809A>C (p.Glu270Ala) c.169+9013T>G (n.169+9013T>G) c.*124+8812T>G (n.*124+8812T>G) c.*546A>C (n.*546A>C) c.293A>C (p.Glu98Ala) c.1196A>C (p.Glu399Ala) c.-1898A>C (n.-1898A>C) c.1016A>C (p.Glu339Ala) | ClinVar |
| 2 | g.47799182A>G | CA346743406 | FBXO11,MSH6 | c.902A>G (p.Glu301Gly) c.1199A>G (p.Glu400Gly) n.1283A>G c.1205A>G (p.Glu402Gly) c.627+3119A>G (n.627+3119A>G) c.356A>G (p.Glu119Gly) c.809A>G (p.Glu270Gly) c.169+9013T>C (n.169+9013T>C) c.*124+8812T>C (n.*124+8812T>C) c.*546A>G (n.*546A>G) c.293A>G (p.Glu98Gly) c.1196A>G (p.Glu399Gly) c.-1898A>G (n.-1898A>G) c.1016A>G (p.Glu339Gly) | ClinVar dbSNP |
| 2 | g.47799182A>T | CA46707672 | FBXO11,MSH6 | c.902A>T (p.Glu301Val) c.1199A>T (p.Glu400Val) n.1283A>T c.1205A>T (p.Glu402Val) c.627+3119A>T (n.627+3119A>T) c.356A>T (p.Glu119Val) c.809A>T (p.Glu270Val) c.169+9013T>A (n.169+9013T>A) c.*124+8812T>A (n.*124+8812T>A) c.*546A>T (n.*546A>T) c.293A>T (p.Glu98Val) c.1196A>T (p.Glu399Val) c.-1898A>T (n.-1898A>T) c.1016A>T (p.Glu339Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799183G>A | CA067322 | FBXO11,MSH6 | c.903G>A (p.Glu301=) c.1200G>A (p.Glu400=) n.1284G>A c.1206G>A (p.Glu402=) c.627+3120G>A (n.627+3120G>A) c.357G>A (p.Glu119=) c.810G>A (p.Glu270=) c.169+9012C>T (n.169+9012C>T) c.*124+8811C>T (n.*124+8811C>T) c.*547G>A (n.*547G>A) c.294G>A (p.Glu98=) c.1197G>A (p.Glu399=) c.-1897G>A (n.-1897G>A) c.1017G>A (p.Glu339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47799183G>C | CA346743412 | FBXO11,MSH6 | c.903G>C (p.Glu301Asp) c.1200G>C (p.Glu400Asp) n.1284G>C c.1206G>C (p.Glu402Asp) c.627+3120G>C (n.627+3120G>C) c.357G>C (p.Glu119Asp) c.810G>C (p.Glu270Asp) c.169+9012C>G (n.169+9012C>G) c.*124+8811C>G (n.*124+8811C>G) c.*547G>C (n.*547G>C) c.294G>C (p.Glu98Asp) c.1197G>C (p.Glu399Asp) c.-1897G>C (n.-1897G>C) c.1017G>C (p.Glu339Asp) | dbSNP |
| 2 | g.47799183G= | CA2496048502 | FBXO11,MSH6 | c.903G= (p.Glu301=) c.1200G= (p.Glu400=) n.1284G= c.1206G= (p.Glu402=) c.627+3120G= (n.627+3120G=) c.357G= (p.Glu119=) c.810G= (p.Glu270=) c.169+9012C= (n.169+9012C=) c.*124+8811C= (n.*124+8811C=) c.*547G= (n.*547G=) c.294G= (p.Glu98=) c.1197G= (p.Glu399=) c.-1897G= (n.-1897G=) c.1017G= (p.Glu339=) | |
| 2 | g.47799183G>T | CA346743414 | FBXO11,MSH6 | c.903G>T (p.Glu301Asp) c.1200G>T (p.Glu400Asp) n.1284G>T c.1206G>T (p.Glu402Asp) c.627+3120G>T (n.627+3120G>T) c.357G>T (p.Glu119Asp) c.810G>T (p.Glu270Asp) c.169+9012C>A (n.169+9012C>A) c.*124+8811C>A (n.*124+8811C>A) c.*547G>T (n.*547G>T) c.294G>T (p.Glu98Asp) c.1197G>T (p.Glu399Asp) c.-1897G>T (n.-1897G>T) c.1017G>T (p.Glu339Asp) | dbSNP |
| 2 | g.47799183_47799184insC | CA2580067523 | FBXO11,MSH6 | c.903_904insC (p.Asp302ArgfsTer17) c.1200_1201insC (p.Asp401ArgfsTer17) n.1284_1285insC c.1206_1207insC (p.Asp403ArgfsTer17) c.627+3120_627+3121insC (n.627+3120_627+3121insC) c.357_358insC (p.Asp120ArgfsTer17) c.810_811insC (p.Asp271ArgfsTer17) c.169+9011_169+9012insG (n.169+9011_169+9012insG) c.*124+8810_*124+8811insG (n.*124+8810_*124+8811insG) c.*547_*548insC (n.*547_*548insC) c.294_295insC (p.Asp99ArgfsTer17) c.1197_1198insC (p.Asp400ArgfsTer17) c.-1897_-1896insC (n.-1897_-1896insC) c.1017_1018insC (p.Asp340ArgfsTer17) | ClinVar |
| 2 | g.47799184G>A | CA346743416 | FBXO11,MSH6 | c.904G>A (p.Asp302Asn) c.1201G>A (p.Asp401Asn) n.1285G>A c.1207G>A (p.Asp403Asn) c.627+3121G>A (n.627+3121G>A) c.358G>A (p.Asp120Asn) c.811G>A (p.Asp271Asn) c.169+9011C>T (n.169+9011C>T) c.*124+8810C>T (n.*124+8810C>T) c.*548G>A (n.*548G>A) c.295G>A (p.Asp99Asn) c.1198G>A (p.Asp400Asn) c.-1896G>A (n.-1896G>A) c.1018G>A (p.Asp340Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799184G>C | CA346743419 | FBXO11,MSH6 | c.904G>C (p.Asp302His) c.1201G>C (p.Asp401His) n.1285G>C c.1207G>C (p.Asp403His) c.627+3121G>C (n.627+3121G>C) c.358G>C (p.Asp120His) c.811G>C (p.Asp271His) c.169+9011C>G (n.169+9011C>G) c.*124+8810C>G (n.*124+8810C>G) c.*548G>C (n.*548G>C) c.295G>C (p.Asp99His) c.1198G>C (p.Asp400His) c.-1896G>C (n.-1896G>C) c.1018G>C (p.Asp340His) | ClinVar dbSNP |
| 2 | g.47799184G= | CA2496048503 | FBXO11,MSH6 | c.904G= (p.Asp302=) c.1201G= (p.Asp401=) n.1285G= c.1207G= (p.Asp403=) c.627+3121G= (n.627+3121G=) c.358G= (p.Asp120=) c.811G= (p.Asp271=) c.169+9011C= (n.169+9011C=) c.*124+8810C= (n.*124+8810C=) c.*548G= (n.*548G=) c.295G= (p.Asp99=) c.1198G= (p.Asp400=) c.-1896G= (n.-1896G=) c.1018G= (p.Asp340=) | |
| 2 | g.47799184G>T | CA346743420 | FBXO11,MSH6 | c.904G>T (p.Asp302Tyr) c.1201G>T (p.Asp401Tyr) n.1285G>T c.1207G>T (p.Asp403Tyr) c.627+3121G>T (n.627+3121G>T) c.358G>T (p.Asp120Tyr) c.811G>T (p.Asp271Tyr) c.169+9011C>A (n.169+9011C>A) c.*124+8810C>A (n.*124+8810C>A) c.*548G>T (n.*548G>T) c.295G>T (p.Asp99Tyr) c.1198G>T (p.Asp400Tyr) c.-1896G>T (n.-1896G>T) c.1018G>T (p.Asp340Tyr) | ClinVar |
| 2 | g.47799185A= | CA2496048504 | FBXO11,MSH6 | c.905A= (p.Asp302=) c.1202A= (p.Asp401=) n.1286A= c.1208A= (p.Asp403=) c.627+3122A= (n.627+3122A=) c.359A= (p.Asp120=) c.812A= (p.Asp271=) c.169+9010T= (n.169+9010T=) c.*124+8809T= (n.*124+8809T=) c.*549A= (n.*549A=) c.296A= (p.Asp99=) c.1199A= (p.Asp400=) c.-1895A= (n.-1895A=) c.1019A= (p.Asp340=) | |
| 2 | g.47799185A>C | CA346743421 | FBXO11,MSH6 | c.905A>C (p.Asp302Ala) c.1202A>C (p.Asp401Ala) n.1286A>C c.1208A>C (p.Asp403Ala) c.627+3122A>C (n.627+3122A>C) c.359A>C (p.Asp120Ala) c.812A>C (p.Asp271Ala) c.169+9010T>G (n.169+9010T>G) c.*124+8809T>G (n.*124+8809T>G) c.*549A>C (n.*549A>C) c.296A>C (p.Asp99Ala) c.1199A>C (p.Asp400Ala) c.-1895A>C (n.-1895A>C) c.1019A>C (p.Asp340Ala) | dbSNP |
| 2 | g.47799185A>G | CA346743424 | FBXO11,MSH6 | c.905A>G (p.Asp302Gly) c.1202A>G (p.Asp401Gly) n.1286A>G c.1208A>G (p.Asp403Gly) c.627+3122A>G (n.627+3122A>G) c.359A>G (p.Asp120Gly) c.812A>G (p.Asp271Gly) c.169+9010T>C (n.169+9010T>C) c.*124+8809T>C (n.*124+8809T>C) c.*549A>G (n.*549A>G) c.296A>G (p.Asp99Gly) c.1199A>G (p.Asp400Gly) c.-1895A>G (n.-1895A>G) c.1019A>G (p.Asp340Gly) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799185A>T | CA346743429 | FBXO11,MSH6 | c.905A>T (p.Asp302Val) c.1202A>T (p.Asp401Val) n.1286A>T c.1208A>T (p.Asp403Val) c.627+3122A>T (n.627+3122A>T) c.359A>T (p.Asp120Val) c.812A>T (p.Asp271Val) c.169+9010T>A (n.169+9010T>A) c.*124+8809T>A (n.*124+8809T>A) c.*549A>T (n.*549A>T) c.296A>T (p.Asp99Val) c.1199A>T (p.Asp400Val) c.-1895A>T (n.-1895A>T) c.1019A>T (p.Asp340Val) | |
| 2 | g.47799186T>A | CA346743437 | FBXO11,MSH6 | c.906T>A (p.Asp302Glu) c.1203T>A (p.Asp401Glu) n.1287T>A c.1209T>A (p.Asp403Glu) c.627+3123T>A (n.627+3123T>A) c.360T>A (p.Asp120Glu) c.813T>A (p.Asp271Glu) c.169+9009A>T (n.169+9009A>T) c.*124+8808A>T (n.*124+8808A>T) c.*550T>A (n.*550T>A) c.297T>A (p.Asp99Glu) c.1200T>A (p.Asp400Glu) c.-1894T>A (n.-1894T>A) c.1020T>A (p.Asp340Glu) | dbSNP |
| 2 | g.47799186T>C | CA426120817 | FBXO11,MSH6 | c.906T>C (p.Asp302=) c.1203T>C (p.Asp401=) n.1287T>C c.1209T>C (p.Asp403=) c.627+3123T>C (n.627+3123T>C) c.360T>C (p.Asp120=) c.813T>C (p.Asp271=) c.169+9009A>G (n.169+9009A>G) c.*124+8808A>G (n.*124+8808A>G) c.*550T>C (n.*550T>C) c.297T>C (p.Asp99=) c.1200T>C (p.Asp400=) c.-1894T>C (n.-1894T>C) c.1020T>C (p.Asp340=) | ClinVar dbSNP |
| 2 | g.47799186T>G | CA346743440 | FBXO11,MSH6 | c.906T>G (p.Asp302Glu) c.1203T>G (p.Asp401Glu) n.1287T>G c.1209T>G (p.Asp403Glu) c.627+3123T>G (n.627+3123T>G) c.360T>G (p.Asp120Glu) c.813T>G (p.Asp271Glu) c.169+9009A>C (n.169+9009A>C) c.*124+8808A>C (n.*124+8808A>C) c.*550T>G (n.*550T>G) c.297T>G (p.Asp99Glu) c.1200T>G (p.Asp400Glu) c.-1894T>G (n.-1894T>G) c.1020T>G (p.Asp340Glu) | dbSNP |
| 2 | g.47799187T>A | CA346743444 | FBXO11,MSH6 | c.907T>A (p.Phe303Ile) c.1204T>A (p.Phe402Ile) n.1288T>A c.1210T>A (p.Phe404Ile) c.627+3124T>A (n.627+3124T>A) c.361T>A (p.Phe121Ile) c.814T>A (p.Phe272Ile) c.169+9008A>T (n.169+9008A>T) c.*124+8807A>T (n.*124+8807A>T) c.*551T>A (n.*551T>A) c.298T>A (p.Phe100Ile) c.1201T>A (p.Phe401Ile) c.-1893T>A (n.-1893T>A) c.1021T>A (p.Phe341Ile) | dbSNP |
| 2 | g.47799187T>C | CA346743443 | FBXO11,MSH6 | c.907T>C (p.Phe303Leu) c.1204T>C (p.Phe402Leu) n.1288T>C c.1210T>C (p.Phe404Leu) c.627+3124T>C (n.627+3124T>C) c.361T>C (p.Phe121Leu) c.814T>C (p.Phe272Leu) c.169+9008A>G (n.169+9008A>G) c.*124+8807A>G (n.*124+8807A>G) c.*551T>C (n.*551T>C) c.298T>C (p.Phe100Leu) c.1201T>C (p.Phe401Leu) c.-1893T>C (n.-1893T>C) c.1021T>C (p.Phe341Leu) | dbSNP |
| 2 | g.47799187T>G | CA346743442 | FBXO11,MSH6 | c.907T>G (p.Phe303Val) c.1204T>G (p.Phe402Val) n.1288T>G c.1210T>G (p.Phe404Val) c.627+3124T>G (n.627+3124T>G) c.361T>G (p.Phe121Val) c.814T>G (p.Phe272Val) c.169+9008A>C (n.169+9008A>C) c.*124+8807A>C (n.*124+8807A>C) c.*551T>G (n.*551T>G) c.298T>G (p.Phe100Val) c.1201T>G (p.Phe401Val) c.-1893T>G (n.-1893T>G) c.1021T>G (p.Phe341Val) | ClinVar dbSNP |
| 2 | g.47799188T>A | CA346743447 | FBXO11,MSH6 | c.908T>A (p.Phe303Tyr) c.1205T>A (p.Phe402Tyr) n.1289T>A c.1211T>A (p.Phe404Tyr) c.627+3125T>A (n.627+3125T>A) c.362T>A (p.Phe121Tyr) c.815T>A (p.Phe272Tyr) c.169+9007A>T (n.169+9007A>T) c.*124+8806A>T (n.*124+8806A>T) c.*552T>A (n.*552T>A) c.299T>A (p.Phe100Tyr) c.1202T>A (p.Phe401Tyr) c.-1892T>A (n.-1892T>A) c.1022T>A (p.Phe341Tyr) | |
| 2 | g.47799188T>C | CA346743449 | FBXO11,MSH6 | c.908T>C (p.Phe303Ser) c.1205T>C (p.Phe402Ser) n.1289T>C c.1211T>C (p.Phe404Ser) c.627+3125T>C (n.627+3125T>C) c.362T>C (p.Phe121Ser) c.815T>C (p.Phe272Ser) c.169+9007A>G (n.169+9007A>G) c.*124+8806A>G (n.*124+8806A>G) c.*552T>C (n.*552T>C) c.299T>C (p.Phe100Ser) c.1202T>C (p.Phe401Ser) c.-1892T>C (n.-1892T>C) c.1022T>C (p.Phe341Ser) | |
| 2 | g.47799188T>G | CA346743451 | FBXO11,MSH6 | c.908T>G (p.Phe303Cys) c.1205T>G (p.Phe402Cys) n.1289T>G c.1211T>G (p.Phe404Cys) c.627+3125T>G (n.627+3125T>G) c.362T>G (p.Phe121Cys) c.815T>G (p.Phe272Cys) c.169+9007A>C (n.169+9007A>C) c.*124+8806A>C (n.*124+8806A>C) c.*552T>G (n.*552T>G) c.299T>G (p.Phe100Cys) c.1202T>G (p.Phe401Cys) c.-1892T>G (n.-1892T>G) c.1022T>G (p.Phe341Cys) | |
| 2 | g.47799189C>A | CA346743455 | FBXO11,MSH6 | c.909C>A (p.Phe303Leu) c.1206C>A (p.Phe402Leu) n.1290C>A c.1212C>A (p.Phe404Leu) c.627+3126C>A (n.627+3126C>A) c.363C>A (p.Phe121Leu) c.816C>A (p.Phe272Leu) c.169+9006G>T (n.169+9006G>T) c.*124+8805G>T (n.*124+8805G>T) c.*553C>A (n.*553C>A) c.300C>A (p.Phe100Leu) c.1203C>A (p.Phe401Leu) c.-1891C>A (n.-1891C>A) c.1023C>A (p.Phe341Leu) | dbSNP |
| 2 | g.47799189C= | CA2496048505 | FBXO11,MSH6 | c.909C= (p.Phe303=) c.1206C= (p.Phe402=) n.1290C= c.1212C= (p.Phe404=) c.627+3126C= (n.627+3126C=) c.363C= (p.Phe121=) c.816C= (p.Phe272=) c.169+9006G= (n.169+9006G=) c.*124+8805G= (n.*124+8805G=) c.*553C= (n.*553C=) c.300C= (p.Phe100=) c.1203C= (p.Phe401=) c.-1891C= (n.-1891C=) c.1023C= (p.Phe341=) | |
| 2 | g.47799189C>G | CA346743459 | FBXO11,MSH6 | c.909C>G (p.Phe303Leu) c.1206C>G (p.Phe402Leu) n.1290C>G c.1212C>G (p.Phe404Leu) c.627+3126C>G (n.627+3126C>G) c.363C>G (p.Phe121Leu) c.816C>G (p.Phe272Leu) c.169+9006G>C (n.169+9006G>C) c.*124+8805G>C (n.*124+8805G>C) c.*553C>G (n.*553C>G) c.300C>G (p.Phe100Leu) c.1203C>G (p.Phe401Leu) c.-1891C>G (n.-1891C>G) c.1023C>G (p.Phe341Leu) | |
| 2 | g.47799189C>T | CA067327 | FBXO11,MSH6 | c.909C>T (p.Phe303=) c.1206C>T (p.Phe402=) n.1290C>T c.1212C>T (p.Phe404=) c.627+3126C>T (n.627+3126C>T) c.363C>T (p.Phe121=) c.816C>T (p.Phe272=) c.169+9006G>A (n.169+9006G>A) c.*124+8805G>A (n.*124+8805G>A) c.*553C>T (n.*553C>T) c.300C>T (p.Phe100=) c.1203C>T (p.Phe401=) c.-1891C>T (n.-1891C>T) c.1023C>T (p.Phe341=) | ClinVar dbSNP ExAC gnomAD v4 |
| 2 | g.47799190C>A | CA346743464 | FBXO11,MSH6 | c.910C>A (p.Leu304Ile) c.1207C>A (p.Leu403Ile) n.1291C>A c.1213C>A (p.Leu405Ile) c.627+3127C>A (n.627+3127C>A) c.364C>A (p.Leu122Ile) c.817C>A (p.Leu273Ile) c.169+9005G>T (n.169+9005G>T) c.*124+8804G>T (n.*124+8804G>T) c.*554C>A (n.*554C>A) c.301C>A (p.Leu101Ile) c.1204C>A (p.Leu402Ile) c.-1890C>A (n.-1890C>A) c.1024C>A (p.Leu342Ile) | ClinVar dbSNP |
| 2 | g.47799190C= | CA2496048506 | FBXO11,MSH6 | c.910C= (p.Leu304=) c.1207C= (p.Leu403=) n.1291C= c.1213C= (p.Leu405=) c.627+3127C= (n.627+3127C=) c.364C= (p.Leu122=) c.817C= (p.Leu273=) c.169+9005G= (n.169+9005G=) c.*124+8804G= (n.*124+8804G=) c.*554C= (n.*554C=) c.301C= (p.Leu101=) c.1204C= (p.Leu402=) c.-1890C= (n.-1890C=) c.1024C= (p.Leu342=) | |
| 2 | g.47799190C>G | CA346743467 | FBXO11,MSH6 | c.910C>G (p.Leu304Val) c.1207C>G (p.Leu403Val) n.1291C>G c.1213C>G (p.Leu405Val) c.627+3127C>G (n.627+3127C>G) c.364C>G (p.Leu122Val) c.817C>G (p.Leu273Val) c.169+9005G>C (n.169+9005G>C) c.*124+8804G>C (n.*124+8804G>C) c.*554C>G (n.*554C>G) c.301C>G (p.Leu101Val) c.1204C>G (p.Leu402Val) c.-1890C>G (n.-1890C>G) c.1024C>G (p.Leu342Val) | ClinVar dbSNP |
| 2 | g.47799190C>T | CA10578065 | FBXO11,MSH6 | c.910C>T (p.Leu304Phe) c.1207C>T (p.Leu403Phe) n.1291C>T c.1213C>T (p.Leu405Phe) c.627+3127C>T (n.627+3127C>T) c.364C>T (p.Leu122Phe) c.817C>T (p.Leu273Phe) c.169+9005G>A (n.169+9005G>A) c.*124+8804G>A (n.*124+8804G>A) c.*554C>T (n.*554C>T) c.301C>T (p.Leu101Phe) c.1204C>T (p.Leu402Phe) c.-1890C>T (n.-1890C>T) c.1024C>T (p.Leu342Phe) | ClinVar dbSNP |