NM_001370658.1(BTD):c.17+1G>A

rs1057516440

NM_001370658.1(BTD):c.17+1G>C

rs1057516440

NM_001370658.1(BTD):c.17+1G>T

rs1057516440

NM_001370658.1(BTD):c.17+1del

rs1057517114

NM_001370658.1(BTD):c.17+2T>C


NM_001370658.1(BTD):c.17_17+3del

rs1050514843

NM_001370658.1(BTD):c.18A>T

rs143058480

NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)

rs747548016

NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)

rs1057516252

NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)

rs397514434

NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)

rs1057517256

NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)

rs672601248

NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)

rs397514404

NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)

rs397514410

NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)

rs397514412

NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)

rs1057517225

NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)

rs397514416

NM_001370658.1(BTD):c.1264del (p.Val422fs)

rs1057517362

NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser)

rs1559600573

NM_001370658.1(BTD):c.1270G>C (p.Asp424His)

rs13078881

NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)

rs397514418

NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)

rs1553654142

NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)

rs1553654145

NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)

rs397514345

NM_001370658.1(BTD):c.1334dup (p.Leu446fs)

rs397514440

NM_001370658.1(BTD):c.1350dup (p.Cys451fs)

rs886041559

NM_001370658.1(BTD):c.1395C>G (p.His465Gln)

rs201604102

NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)

rs1553654178

NM_001370658.1(BTD):c.1399del (p.Trp467fs)

rs397514423

NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)

rs1277029090

NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)

rs1553654186

NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)

rs138818907

NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)

rs1205964567

NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)

rs1553654220

NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)

rs80338686

NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)

rs1050035768

NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)

rs146136265

NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)

rs104893687

NM_001370658.1(BTD):c.176G>A (p.Arg59His)

rs397514343

NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)

rs397514348

NM_001370658.1(BTD):c.249+1G>T

rs373249212

NM_001370658.1(BTD):c.25015del

rs587783008

NM_001370658.1(BTD):c.2501G>T

rs1553653053

NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)

rs1553653062

NM_001370658.1(BTD):c.262A>G (p.Ile88Val)

rs976185636

NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)

rs397514352

NM_001370658.1(BTD):c.281G>T (p.Gly94Val)

rs375712490

NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)

rs1057516223

NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)

rs1306944669

NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)

rs397514357

NM_001370658.1(BTD):c.368G>T (p.Cys123Phe)

rs1336386457

NM_001370658.1(BTD):c.383G>A (p.Arg128His)

rs367902696

NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)

rs119103232

NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)

rs745343884

NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)

rs397514367

NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)

rs1057516812

NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)

rs955385869

NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)

rs397514369

NM_001370658.1(BTD):c.527del (p.Thr176fs)

rs1553653680

NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)

rs1575029290

NM_001370658.1(BTD):c.535G>A (p.Val179Met)

rs397514375

NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)

rs397507174

NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)

rs372844636

NM_001370658.1(BTD):c.577del (p.His193fs)

rs780874850

NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)

rs1553653732

NM_001370658.1(BTD):c.58_59del (p.Leu20fs)

rs1553652080

NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)

rs587783005

NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)

rs397507175

NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)

rs397514382

NM_001370658.1(BTD):c.705C>G (p.Ile235Met)

rs1575029719

NM_001370658.1(BTD):c.873del (p.Ser291fs)

rs397514395

NM_001370658.1(BTD):c.932_941del (p.His311fs)

rs773137513

NM_001370658.1(BTD):c.941_942del (p.Ile314fs)

rs749162799
