Table 2A

Continued

Sample IDGenotypeMutationCodonCodon changeBase changeAminoacidType
Codon 72Exon
FU M314Arg /Arg10342CGA > TGACSTArg > StopNonsense
ULL-T-263Arg /Pro4 8911 bp insFrameshift
ULL-T-113Arg /Pro4113TTC > GTCT > GPhe > ValMissense
MT 059Arg /Pro5134TTT > CTTT > CPhe > LeuMissense
LB 709 BArg /Pro5136CAA > TAAC > TGln > StopNonsense
FU 11Arg /Pro5140–14310 bp delStop 169Frameshift
FU M315Arg /Pro5142CCTdel CStop 169Frameshift
MT 052Arg /Pro5156CGC > CCCG > CArg > ProMissense
LB 115 BArg /Pro5163TAC > TGCA > GTyr > CysMissense
LB 708 BArg /Pro5165CAG > TAGC > TGln > StopNonsense
FU M304Arg /Pro5167CAG > TAGC > TGln > StopNonsense
MT 022Arg /Pro5172GTTdel TFrameshift
MT 020Arg /Pro5174–18017 bp delFrameshift
ULL-T-155Arg /Pro5175CGC > CACG > AArg > HisMissense
MT 208Arg /Pro5179CAT > TATC > THis > TyrMissense
FU 05Arg /Pro6195ATC > ACCT > CIle > ThrMissense
MT 111Arg /Pro6195ATC > ACCT > CIle > ThrMissense
ULL-T-007Arg /Pro6195ATC > ACCT > CIle > ThrMissense
FU M316Arg /Pro6220TAT > TGTA > GTyr > CysMissense
ULL-T-226Arg /Pro6220TAT > TGTA > GTyr > CysMissense
LB 303 BArg /Pro7232–2346 bp delIn frame
LB 206 AArg /Pro7237ATG > ATTG > TMet > IleMissense
MT 104Arg /Pro7239AAC > ACCA > CAsn > ThrMissense
FU M303Arg /Pro7248CGG > TGGC > TArg > TrpMissense
MT 112Arg /Pro7248CGG > TGGC > TArg > TrpMissense
MT 132Arg /Pro7248CGG > CAGG > AArg > GlnMissense
MT 016Arg /Pro8273CGT > CATG > AArg > HisMissense
MT 065Arg /Pro8273CGT > CATG > AArg > HisMissense
FU M301Arg /Pro8282CGG > GGGC > GArg > GlyMissense
MT 318Arg /Pro8282CGG > TGGC > TArg > TrpMissense
FU 06Arg /Pro8298GAG > TAGG > TGlu > StopNonsense
LB 122 APro /Pro<51 bp upstreamIntronicG > ASplice