Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101770477_101770480delCA2620452059GNPTABc.1041_1044del (p.Phe347LeufsTer11)
c.960_963del (p.Phe320LeufsTer11)
c.825_828del (p.Phe275LeufsTer11)
c.-187_-184del (n.-187_-184del)
gnomAD v4
12g.101770479A>CCA386303143GNPTABc.1040T>G (p.Phe347Cys)
c.959T>G (p.Phe320Cys)
c.824T>G (p.Phe275Cys)
c.-188T>G (n.-188T>G)
12g.101770479A>GCA386303144GNPTABc.1040T>C (p.Phe347Ser)
c.959T>C (p.Phe320Ser)
c.824T>C (p.Phe275Ser)
c.-188T>C (n.-188T>C)
12g.101770479A>TCA386303146GNPTABc.1040T>A (p.Phe347Tyr)
c.959T>A (p.Phe320Tyr)
c.824T>A (p.Phe275Tyr)
c.-188T>A (n.-188T>A)
12g.101770480A>CCA386303147GNPTABc.1039T>G (p.Phe347Val)
c.958T>G (p.Phe320Val)
c.823T>G (p.Phe275Val)
c.-189T>G (n.-189T>G)
12g.101770480A>GCA386303149GNPTABc.1039T>C (p.Phe347Leu)
c.958T>C (p.Phe320Leu)
c.823T>C (p.Phe275Leu)
c.-189T>C (n.-189T>C)
12g.101770480A>TCA386303151GNPTABc.1039T>A (p.Phe347Ile)
c.958T>A (p.Phe320Ile)
c.823T>A (p.Phe275Ile)
c.-189T>A (n.-189T>A)
12g.101770481A=CA2058957999GNPTABc.1038T= (p.Ile346=)
c.957T= (p.Ile319=)
c.822T= (p.Ile274=)
c.-190T= (n.-190T=)
12g.101770481A>CCA386303152GNPTABc.1038T>G (p.Ile346Met)
c.957T>G (p.Ile319Met)
c.822T>G (p.Ile274Met)
c.-190T>G (n.-190T>G)
12g.101770481A>GCA481320728GNPTABc.1038T>C (p.Ile346=)
c.957T>C (p.Ile319=)
c.822T>C (p.Ile274=)
c.-190T>C (n.-190T>C)
dbSNP gnomAD v2 gnomAD v4
12g.101770481A>TCA481320729GNPTABc.1038T>A (p.Ile346=)
c.957T>A (p.Ile319=)
c.822T>A (p.Ile274=)
c.-190T>A (n.-190T>A)
12g.101770481_101770483delinsAATCA2058957998GNPTABc.1036_1038delinsATT (p.Ile346=)
c.955_957delinsATT (p.Ile319=)
c.820_822delinsATT (p.Ile274=)
c.-192_-190delinsATT (n.-192_-190delinsATT)
12g.101770482A>CCA386303158GNPTABc.1037T>G (p.Ile346Ser)
c.956T>G (p.Ile319Ser)
c.821T>G (p.Ile274Ser)
c.-191T>G (n.-191T>G)
12g.101770482A>GCA386303154GNPTABc.1037T>C (p.Ile346Thr)
c.956T>C (p.Ile319Thr)
c.821T>C (p.Ile274Thr)
c.-191T>C (n.-191T>C)
COSMIC COSMIC
12g.101770482A>TCA386303156GNPTABc.1037T>A (p.Ile346Asn)
c.956T>A (p.Ile319Asn)
c.821T>A (p.Ile274Asn)
c.-191T>A (n.-191T>A)
12g.101770484_101770485delCA223749GNPTABc.1036_1037del (p.Ile346PhefsTer15)
c.955_956del (p.Ile319PhefsTer15)
c.820_821del (p.Ile274PhefsTer15)
c.-192_-191del (n.-192_-191del)
dbSNP
12g.101770483T>ACA386303159GNPTABc.1036A>T (p.Ile346Phe)
c.955A>T (p.Ile319Phe)
c.820A>T (p.Ile274Phe)
c.-192A>T (n.-192A>T)
12g.101770483T>CCA386303161GNPTABc.1036A>G (p.Ile346Val)
c.955A>G (p.Ile319Val)
c.820A>G (p.Ile274Val)
c.-192A>G (n.-192A>G)
12g.101770483T>GCA386303163GNPTABc.1036A>C (p.Ile346Leu)
c.955A>C (p.Ile319Leu)
c.820A>C (p.Ile274Leu)
c.-192A>C (n.-192A>C)
12g.101770484A>CCA386303165GNPTABc.1035T>G (p.Asn345Lys)
c.954T>G (p.Asn318Lys)
c.819T>G (p.Asn273Lys)
c.-193T>G (n.-193T>G)
12g.101770484A>GCA481320731GNPTABc.1035T>C (p.Asn345=)
c.954T>C (p.Asn318=)
c.819T>C (p.Asn273=)
c.-193T>C (n.-193T>C)
12g.101770484A>TCA386303166GNPTABc.1035T>A (p.Asn345Lys)
c.954T>A (p.Asn318Lys)
c.819T>A (p.Asn273Lys)
c.-193T>A (n.-193T>A)
12g.101770485T>ACA386303168GNPTABc.1034A>T (p.Asn345Ile)
c.953A>T (p.Asn318Ile)
c.818A>T (p.Asn273Ile)
c.-194A>T (n.-194A>T)
12g.101770485T>CCA6746728GNPTABc.1034A>G (p.Asn345Ser)
c.953A>G (p.Asn318Ser)
c.818A>G (p.Asn273Ser)
c.-194A>G (n.-194A>G)
dbSNP ExAC gnomAD v2
12g.101770485T>GCA386303169GNPTABc.1034A>C (p.Asn345Thr)
c.953A>C (p.Asn318Thr)
c.818A>C (p.Asn273Thr)
c.-194A>C (n.-194A>C)
12g.101770485T=CA2058958000GNPTABc.1034A= (p.Asn345=)
c.953A= (p.Asn318=)
c.818A= (p.Asn273=)
c.-194A= (n.-194A=)
12g.101770486T>ACA386303171GNPTABc.1033A>T (p.Asn345Tyr)
c.952A>T (p.Asn318Tyr)
c.817A>T (p.Asn273Tyr)
c.-195A>T (n.-195A>T)
12g.101770486T>CCA386303172GNPTABc.1033A>G (p.Asn345Asp)
c.952A>G (p.Asn318Asp)
c.817A>G (p.Asn273Asp)
c.-195A>G (n.-195A>G)
12g.101770486T>GCA386303173GNPTABc.1033A>C (p.Asn345His)
c.952A>C (p.Asn318His)
c.817A>C (p.Asn273His)
c.-195A>C (n.-195A>C)
12g.101770486_101770487delCA912973305GNPTABc.1032_1033del (p.Asn345TyrfsTer16)
c.951_952del (p.Asn318TyrfsTer16)
c.816_817del (p.Asn273TyrfsTer16)
c.-196_-195del (n.-196_-195del)
12g.101770486_101770487delinsTCCA2058958001GNPTABc.1032_1033delinsGA (p.Arg344=)
c.951_952delinsGA (p.Arg317=)
c.816_817delinsGA (p.Arg272=)
c.-196_-195delinsGA (n.-196_-195delinsGA)
12g.101770487C>ACA481320733GNPTABc.1032G>T (p.Arg344=)
c.951G>T (p.Arg317=)
c.816G>T (p.Arg272=)
c.-196G>T (n.-196G>T)
12g.101770487C>GCA481320734GNPTABc.1032G>C (p.Arg344=)
c.951G>C (p.Arg317=)
c.816G>C (p.Arg272=)
c.-196G>C (n.-196G>C)
12g.101770487C>TCA481320735GNPTABc.1032G>A (p.Arg344=)
c.951G>A (p.Arg317=)
c.816G>A (p.Arg272=)
c.-196G>A (n.-196G>A)
12g.101770488delCA658822545GNPTABc.1032del (p.Asn345IlefsTer14)
c.951del (p.Asn318IlefsTer14)
c.816del (p.Asn273IlefsTer14)
c.-196del (n.-196del)
ClinVar dbSNP
12g.101770488C>ACA386303176GNPTABc.1031G>T (p.Arg344Leu)
c.950G>T (p.Arg317Leu)
c.815G>T (p.Arg272Leu)
c.-197G>T (n.-197G>T)
gnomAD v4
12g.101770488C=CA2058958002GNPTABc.1031G= (p.Arg344=)
c.950G= (p.Arg317=)
c.815G= (p.Arg272=)
c.-197G= (n.-197G=)
12g.101770488C>GCA386303178GNPTABc.1031G>C (p.Arg344Pro)
c.950G>C (p.Arg317Pro)
c.815G>C (p.Arg272Pro)
c.-197G>C (n.-197G>C)
12g.101770488C>TCA386303174GNPTABc.1031G>A (p.Arg344Gln)
c.950G>A (p.Arg317Gln)
c.815G>A (p.Arg272Gln)
c.-197G>A (n.-197G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101770489G>ACA386303181GNPTABc.1030C>T (p.Arg344Trp)
c.949C>T (p.Arg317Trp)
c.814C>T (p.Arg272Trp)
c.-198C>T (n.-198C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770489G>CCA386303179GNPTABc.1030C>G (p.Arg344Gly)
c.949C>G (p.Arg317Gly)
c.814C>G (p.Arg272Gly)
c.-198C>G (n.-198C>G)
12g.101770489G=CA2058958003GNPTABc.1030C= (p.Arg344=)
c.949C= (p.Arg317=)
c.814C= (p.Arg272=)
c.-198C= (n.-198C=)
12g.101770489G>TCA481320736GNPTABc.1030C>A (p.Arg344=)
c.949C>A (p.Arg317=)
c.814C>A (p.Arg272=)
c.-198C>A (n.-198C>A)
12g.101770490A>CCA481320737GNPTABc.1029T>G (p.Val343=)
c.948T>G (p.Val316=)
c.813T>G (p.Val271=)
c.-199T>G (n.-199T>G)
gnomAD v4
12g.101770490A>GCA481320738GNPTABc.1029T>C (p.Val343=)
c.948T>C (p.Val316=)
c.813T>C (p.Val271=)
c.-199T>C (n.-199T>C)
12g.101770490A>TCA481320739GNPTABc.1029T>A (p.Val343=)
c.948T>A (p.Val316=)
c.813T>A (p.Val271=)
c.-199T>A (n.-199T>A)
12g.101770491A>CCA386303184GNPTABc.1028T>G (p.Val343Gly)
c.947T>G (p.Val316Gly)
c.812T>G (p.Val271Gly)
c.-200T>G (n.-200T>G)
12g.101770491A>GCA386303182GNPTABc.1028T>C (p.Val343Ala)
c.947T>C (p.Val316Ala)
c.812T>C (p.Val271Ala)
c.-200T>C (n.-200T>C)
12g.101770491A>TCA386303183GNPTABc.1028T>A (p.Val343Asp)
c.947T>A (p.Val316Asp)
c.812T>A (p.Val271Asp)
c.-200T>A (n.-200T>A)
12g.101770492C>ACA6746729GNPTABc.1027G>T (p.Val343Phe)
c.946G>T (p.Val316Phe)
c.811G>T (p.Val271Phe)
c.-201G>T (n.-201G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched