Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933751_4933934delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCA2244625701CHRNE,GP1BAc.1147_1330delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Thr383=)
c.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT (n.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT)
c.1147_1273-21delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG
17g.4933756_4933938delCA980971795CHRNE,GP1BAc.1152_1334del (p.Ser385_Pro445del)
c.-888+408_-888+590del (n.-888+408_-888+590del)
c.1152_1273-17del
 dbSNP gnomAD v3 gnomAD v4
17g.4933763_4933919delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCA2244625710CHRNE,GP1BAc.1159_1315delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC (p.Thr387=)
c.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT (n.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT)
c.1159_1273-36delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC
17g.4933779_4933934delCA980971820CHRNE,GP1BAc.1175_1330del (p.Val392_Pro443del)
c.-888+423_-888+578del (n.-888+423_-888+578del)
c.1175_1273-21del
 dbSNP gnomAD v3 gnomAD v4
17g.4933795_4933860delCA2635579011CHRNE,GP1BAc.1191_1256del (p.Asn398_Pro419del)
c.-888+493_-888+558del (n.-888+493_-888+558del)
 gnomAD v4
17g.4933809_4933952delCA980971848CHRNE,GP1BAc.1205_1348del (p.Leu402_Thr449del)
c.-888+398_-888+541del (n.-888+398_-888+541del)
c.1205_1273-3del
 gnomAD v3 gnomAD v4
17g.4933819_4933962delCA2540613392CHRNE,GP1BAc.1215_1358del (p.Pro406_Thr453del)
c.-888+389_-888+532del (n.-888+389_-888+532del)
c.1215_1280del
17g.4933819_4933845delCA919780173CHRNE,GP1BAc.1215_1241del (p.Pro406_Thr414del)
c.-888+505_-888+531del (n.-888+505_-888+531del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933817_4933855delCA2635579019CHRNE,GP1BAc.1213_1251del (p.Thr405_Pro417del)
c.-888+493_-888+531del (n.-888+493_-888+531del)
 gnomAD v4
17g.4933819_4933963delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCA2244625736CHRNE,GP1BAc.1215_1359delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC (p.Thr405=)
c.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA (n.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA)
c.1215_1281delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC
17g.4933822_4933899delCA2635579021CHRNE,GP1BAc.1218_1295del (p.Ser407_Pro432del)
c.-888+445_-888+522del (n.-888+445_-888+522del)
c.1218_1272+23del
 gnomAD v4
17g.4933824_4933967delCA980971864CHRNE,GP1BAc.1220_1363del (p.Ser407_Pro454del)
c.-888+379_-888+522del (n.-888+379_-888+522del)
c.1220_1285del
 dbSNP gnomAD v3 gnomAD v4
17g.4933822_4933861delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCCA2244625740CHRNE,GP1BAc.1218_1257delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=)
c.-888+481_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+481_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT)
17g.4933822_4933900delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCCA2244625738CHRNE,GP1BAc.1218_1296delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=)
c.-888+442_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+442_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT)
c.1218_1272+24delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC
17g.4933822_4933939delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCCA2244625739CHRNE,GP1BAc.1218_1335delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=)
c.-888+403_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+403_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT)
c.1218_1273-16delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC
17g.4933837_4933875delCA8314926CHRNE,GP1BAc.1233_1271del (p.Glu412_Pro424del)
c.-888+481_-888+519del (n.-888+481_-888+519del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933837_4933953delCA8314925CHRNE,GP1BAc.1233_1349del (p.Glu412_Pro450del)
c.-888+403_-888+519del (n.-888+403_-888+519del)
c.1233_1273-2del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933886_4933963delCA8314924CHRNE,GP1BAc.1282_1359del (p.Ser428_Thr453del)
c.-888+442_-888+519del (n.-888+442_-888+519del)
c.1272+10_1281del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933833_4933976delCA980971882CHRNE,GP1BAc.1229_1372del (p.Thr410_Thr457del)
c.-888+374_-888+517del (n.-888+374_-888+517del)
c.1229_1294del
 gnomAD v3 gnomAD v4
17g.4933828_4933915delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCACA2244625745CHRNE,GP1BAc.1224_1311delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Pro408=)
c.-888+427_-888+514delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTC (n.-888+427_-888+514delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTC)
c.1224_1273-40delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA
17g.4933829_4933846delCA2635579024CHRNE,GP1BAc.1225_1242del (p.Thr409_Thr414del)
c.-888+496_-888+513del (n.-888+496_-888+513del)
 gnomAD v4
17g.4933829_4933906delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGCA2244625746CHRNE,GP1BAc.1225_1302delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG (p.Thr409=)
c.-888+436_-888+513delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT (n.-888+436_-888+513delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT)
c.1225_1272+30delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG
17g.4933829_4933915delCA980971891CHRNE,GP1BAc.1225_1311del (p.Thr409_Pro437del)
c.-888+427_-888+513del (n.-888+427_-888+513del)
c.1225_1273-40del
 dbSNP gnomAD v3 gnomAD v4
17g.4933830_4933906delCA624856141CHRNE,GP1BAc.1226_1302del (p.Thr409AsnfsTer?)
c.-888+436_-888+512del (n.-888+436_-888+512del)
c.1226_1272+30del
 dbSNP gnomAD v2 gnomAD v4
17g.4933833_4933846delCA980971895CHRNE,GP1BAc.1229_1242del (p.Thr410IlefsTer?)
c.-888+496_-888+509del (n.-888+496_-888+509del)
 gnomAD v3 gnomAD v4
17g.4933833_4933900delCA2635579026CHRNE,GP1BAc.1229_1296del (p.Thr410LysfsTer?)
c.-888+442_-888+509del (n.-888+442_-888+509del)
c.1229_1272+24del
 gnomAD v4
17g.4933837_4933913delCA2635579027CHRNE,GP1BAc.1233_1309del (p.Glu412ArgfsTer?)
c.-888+432_-888+508del (n.-888+432_-888+508del)
c.1233_1272+37del
 gnomAD v4
17g.4933835_4933978delCA2808297149CHRNE,GP1BAc.1231_1374del (p.Pro411_Ile458del)
c.-888+365_-888+508del (n.-888+365_-888+508del)
c.1231_1296del
17g.4933836_4933997delCA2808297150CHRNE,GP1BAc.1232_1393del (p.Pro411_Ile464del)
c.-888+347_-888+508del (n.-888+347_-888+508del)
c.1232_1315del
17g.4933837_4933840delCA2635579029CHRNE,GP1BAc.1233_1236del (p.Glu412ProfsTer?)
c.-888+502_-888+505del (n.-888+502_-888+505del)
 dbSNP gnomAD v4
17g.4933839_4933840delCA2635579028CHRNE,GP1BAc.1235_1236del (p.Glu412AlafsTer?)
c.-888+504_-888+505del (n.-888+504_-888+505del)
 gnomAD v4
17g.4933837_4933876delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGCA2244625753CHRNE,GP1BAc.1233_1272delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (p.Pro411=)
c.-888+466_-888+505delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT (n.-888+466_-888+505delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT)
17g.4933838_4933840delCA2635579032CHRNE,GP1BAc.1234_1236del (p.Glu412del)
c.-888+502_-888+504del (n.-888+502_-888+504del)
 gnomAD v4
17g.4933838_4933846delCA2635579030CHRNE,GP1BAc.1234_1242del (p.Glu412_Thr414del)
c.-888+496_-888+504del (n.-888+496_-888+504del)
 gnomAD v4
17g.4933854_4933855insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCA624856144CHRNE,GP1BAc.1250_1251insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCC (p.Pro417_Ala418insAlaProSerProThrThrProGluProThrSerGluPro)
c.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTGGGCTC)
 dbSNP gnomAD v2 gnomAD v4
17g.4933870_4933871insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCCA2635579035CHRNE,GP1BAc.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (p.Thr422_Thr423insProProGluProThrSerGluProAlaProSerProThr)
c.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC)
 gnomAD v4
17g.4933838_4933900delCA980971910CHRNE,GP1BAc.1234_1296del (p.Glu412_Pro432del)
c.-888+442_-888+504del (n.-888+442_-888+504del)
c.1234_1272+24del
 gnomAD v3 gnomAD v4
17g.4933838_4933911delCA2808297160CHRNE,GP1BAc.1234_1307del (p.Glu412ProfsTer?)
c.-888+431_-888+504del (n.-888+431_-888+504del)
c.1234_1272+35del
17g.4933914_4933915insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCCA624856142CHRNE,GP1BAc.1310_1311insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC (p.Pro437_Glu438insGluProThrSerGluProAlaProSerProThrThrProGluProThrSerGluProAlaProSerProThrThrPro)
c.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC)
c.1272+38_1273-40insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC
 ClinVar gnomAD v2 gnomAD v4
17g.4933876_4933914dupCA2635579033CHRNE,GP1BAc.1272_1310dup (p.Pro437_Glu438insGluProThrSerGluProAlaProSerProThrThrPro)
c.-888+466_-888+504dup (n.-888+466_-888+504dup)
c.1272_1272+38dup
 gnomAD v4
17g.4933876_4933914delCA624856143CHRNE,GP1BAc.1272_1310del (p.Glu425_Pro437del)
c.-888+466_-888+504del (n.-888+466_-888+504del)
c.1272_1272+38del
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.4933838_4933915delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCACA2244625756CHRNE,GP1BAc.1234_1311delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Glu412=)
c.-888+427_-888+504delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+427_-888+504delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC)
c.1234_1273-40delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA
17g.4933847_4933963delCA980971914CHRNE,GP1BAc.1243_1359del (p.Ser415_Thr453del)
c.-888+388_-888+504del (n.-888+388_-888+504del)
c.1243_1281del
 gnomAD v3 gnomAD v4
17g.4933839_4933915delCA8314933CHRNE,GP1BAc.1235_1311del (p.Glu412GlyfsTer?)
c.-888+427_-888+503del (n.-888+427_-888+503del)
c.1235_1273-40del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933840delCA2635579036CHRNE,GP1BAc.1236del (p.Glu412AspfsTer?)
c.-888+502del (n.-888+502del)
 gnomAD v4
17g.4933840G>ACA497677808CHRNE,GP1BAc.1236G>A (p.Glu412=)
c.-888+502C>T (n.-888+502C>T)
 dbSNP
17g.4933840G>CCA397320598CHRNE,GP1BAc.1236G>C (p.Glu412Asp)
c.-888+502C>G (n.-888+502C>G)
17g.4933840G=CA2244625758CHRNE,GP1BAc.1236G= (p.Glu412=)
c.-888+502C= (n.-888+502C=)
17g.4933840G>TCA397320600CHRNE,GP1BAc.1236G>T (p.Glu412Asp)
c.-888+502C>A (n.-888+502C>A)
 gnomAD v4
17g.4933840_4933843delCA2635579037CHRNE,GP1BAc.1236_1239del (p.Thr414GlnfsTer?)
c.-888+499_-888+502del (n.-888+499_-888+502del)
 gnomAD v4
17g.4933841C>ACA8314936CHRNE,GP1BAc.1237C>A (p.Pro413Thr)
c.-888+501G>T (n.-888+501G>T)
 dbSNP ExAC
17g.4933841C=CA2244625759CHRNE,GP1BAc.1237C= (p.Pro413=)
c.-888+501G= (n.-888+501G=)
17g.4933841C>GCA397320601CHRNE,GP1BAc.1237C>G (p.Pro413Ala)
c.-888+501G>C (n.-888+501G>C)
 dbSNP
17g.4933841C>TCA397320603CHRNE,GP1BAc.1237C>T (p.Pro413Ser)
c.-888+501G>A (n.-888+501G>A)
17g.4933843delCA2635579038CHRNE,GP1BAc.1239del (p.Thr414ProfsTer?)
c.-888+501del (n.-888+501del)
 gnomAD v4
17g.4933842_4933843delCA2635579039CHRNE,GP1BAc.1238_1239del (p.Pro413HisfsTer?)
c.-888+500_-888+501del (n.-888+500_-888+501del)
 gnomAD v4
17g.4933841_4933849delCA2808297163CHRNE,GP1BAc.1237_1245del (p.Pro413_Ser415del)
c.-888+493_-888+501del (n.-888+493_-888+501del)
17g.4933842C>ACA397320605CHRNE,GP1BAc.1238C>A (p.Pro413His)
c.-888+500G>T (n.-888+500G>T)
 gnomAD v4
17g.4933842C>GCA397320607CHRNE,GP1BAc.1238C>G (p.Pro413Arg)
c.-888+500G>C (n.-888+500G>C)
17g.4933842C>TCA397320608CHRNE,GP1BAc.1238C>T (p.Pro413Leu)
c.-888+500G>A (n.-888+500G>A)
17g.4933842_4933917delCA2635579041CHRNE,GP1BAc.1238_1313del (p.Pro413ArgfsTer?)
c.-888+425_-888+500del (n.-888+425_-888+500del)
c.1238_1273-38del
 gnomAD v4
17g.4933843C>ACA497677814CHRNE,GP1BAc.1239C>A (p.Pro413=)
c.-888+499G>T (n.-888+499G>T)
17g.4933843C>GCA497677813CHRNE,GP1BAc.1239C>G (p.Pro413=)
c.-888+499G>C (n.-888+499G>C)
17g.4933843C>TCA497677812CHRNE,GP1BAc.1239C>T (p.Pro413=)
c.-888+499G>A (n.-888+499G>A)
17g.4933844delCA2635579042CHRNE,GP1BAc.1240del (p.Thr414ProfsTer?)
c.-888+498del (n.-888+498del)
 dbSNP gnomAD v4
17g.4933844A=CA2244625760CHRNE,GP1BAc.1240A= (p.Thr414=)
c.-888+498T= (n.-888+498T=)
17g.4933844A>CCA397320609CHRNE,GP1BAc.1240A>C (p.Thr414Pro)
c.-888+498T>G (n.-888+498T>G)
 gnomAD v3 gnomAD v4
17g.4933844A>GCA287217160CHRNE,GP1BAc.1240A>G (p.Thr414Ala)
c.-888+498T>C (n.-888+498T>C)
 dbSNP
17g.4933844A>TCA397320612CHRNE,GP1BAc.1240A>T (p.Thr414Ser)
c.-888+498T>A (n.-888+498T>A)
17g.4933844_4933856delinsACCTCAGAGCCCGCA2244625761CHRNE,GP1BAc.1240_1252delinsACCTCAGAGCCCG (p.Thr414=)
c.-888+486_-888+498delinsCGGGCTCTGAGGT (n.-888+486_-888+498delinsCGGGCTCTGAGGT)
17g.4933845C>ACA287217164CHRNE,GP1BAc.1241C>A (p.Thr414Asn)
c.-888+497G>T (n.-888+497G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933845C=CA2244625762CHRNE,GP1BAc.1241C= (p.Thr414=)
c.-888+497G= (n.-888+497G=)
17g.4933845C>GCA397320615CHRNE,GP1BAc.1241C>G (p.Thr414Ser)
c.-888+497G>C (n.-888+497G>C)
17g.4933845C>TCA397320616CHRNE,GP1BAc.1241C>T (p.Thr414Ile)
c.-888+497G>A (n.-888+497G>A)
17g.4933846delCA2635579046CHRNE,GP1BAc.1242del (p.Ser415GlnfsTer?)
c.-888+497del (n.-888+497del)
 gnomAD v4
17g.4933847_4933858delCA624856145CHRNE,GP1BAc.1243_1254del (p.Ser415_Ala418del)
c.-888+486_-888+497del (n.-888+486_-888+497del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933847_4933859delCA2635579045CHRNE,GP1BAc.1243_1255del (p.Ser415ProfsTer?)
c.-888+485_-888+497del (n.-888+485_-888+497del)
c.1243_1255del (p.Ser415ProfsTer27)
 gnomAD v4
17g.4933845_4933921delCA2635579043CHRNE,GP1BAc.1241_1317del (p.Thr414AsnfsTer?)
c.-888+421_-888+497del (n.-888+421_-888+497del)
c.1241_1273-34del
 gnomAD v4
17g.4933846_4933921delCA2635579044CHRNE,GP1BAc.1242_1317del (p.Ser415ProfsTer?)
c.-888+422_-888+497del (n.-888+422_-888+497del)
c.1242_1273-34del
 gnomAD v4
17g.4933846C>ACA497677816CHRNE,GP1BAc.1242C>A (p.Thr414=)
c.-888+496G>T (n.-888+496G>T)
17g.4933846C=CA2244625763CHRNE,GP1BAc.1242C= (p.Thr414=)
c.-888+496G= (n.-888+496G=)
17g.4933846C>GCA497677817CHRNE,GP1BAc.1242C>G (p.Thr414=)
c.-888+496G>C (n.-888+496G>C)
17g.4933846C>TCA497677818CHRNE,GP1BAc.1242C>T (p.Thr414=)
c.-888+496G>A (n.-888+496G>A)
 dbSNP
17g.4933847_4933848delCA2635579047CHRNE,GP1BAc.1243_1244del (p.Ser415ArgfsTer?)
c.-888+495_-888+496del (n.-888+495_-888+496del)
 dbSNP gnomAD v4
17g.4933847delCA2635579048CHRNE,GP1BAc.1243del (p.Ser415GlnfsTer?)
c.-888+495del (n.-888+495del)
 gnomAD v4
17g.4933847T>ACA397320618CHRNE,GP1BAc.1243T>A (p.Ser415Thr)
c.-888+495A>T (n.-888+495A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933847T>CCA397320620CHRNE,GP1BAc.1243T>C (p.Ser415Pro)
c.-888+495A>G (n.-888+495A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933847T>GCA397320621CHRNE,GP1BAc.1243T>G (p.Ser415Ala)
c.-888+495A>C (n.-888+495A>C)
17g.4933847T=CA2244625764CHRNE,GP1BAc.1243T= (p.Ser415=)
c.-888+495A= (n.-888+495A=)
17g.4933847_4933884delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCA2244625765CHRNE,GP1BAc.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (p.Ser415=)
c.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1243_1272+8delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC
17g.4933848C>ACA397320623CHRNE,GP1BAc.1244C>A (p.Ser415Ter)
c.-888+494G>T (n.-888+494G>T)
17g.4933848C=CA2244625766CHRNE,GP1BAc.1244C= (p.Ser415=)
c.-888+494G= (n.-888+494G=)
17g.4933848C>GCA8314938CHRNE,GP1BAc.1244C>G (p.Ser415Ter)
c.-888+494G>C (n.-888+494G>C)
 dbSNP ExAC
17g.4933848C>TCA397320622CHRNE,GP1BAc.1244C>T (p.Ser415Leu)
c.-888+494G>A (n.-888+494G>A)
17g.4933848_4933849delinsCACA2244625767CHRNE,GP1BAc.1244_1245delinsCA (p.Ser415=)
c.-888+493_-888+494delinsTG (n.-888+493_-888+494delinsTG)
17g.4933849_4933855delCA980971939CHRNE,GP1BAc.1245_1251del (p.Glu416ProfsTer?)
c.-888+488_-888+494del (n.-888+488_-888+494del)
c.1245_1251del (p.Glu416ProfsTer28)
 gnomAD v3 gnomAD v4
17g.4933849_4933859delCA2635579049CHRNE,GP1BAc.1245_1255del (p.Glu416GlnfsTer?)
c.-888+484_-888+494del (n.-888+484_-888+494del)
 gnomAD v4
17g.4933849_4933885delCA8314937CHRNE,GP1BAc.1245_1281del (p.Glu416GlnfsTer?)
c.-888+458_-888+494del (n.-888+458_-888+494del)
c.1245_1272+9del
 dbSNP ExAC gnomAD v4
17g.4933849_4933903delCA2635579050CHRNE,GP1BAc.1245_1299del (p.Glu416ArgfsTer?)
c.-888+440_-888+494del (n.-888+440_-888+494del)
c.1245_1272+27del
 gnomAD v4
17g.4933848_4933924delCA2635579051CHRNE,GP1BAc.1244_1320del (p.Ser415PhefsTer?)
c.-888+418_-888+494del (n.-888+418_-888+494del)
c.1244_1273-31del
 gnomAD v4
17g.4933850_4933966delCA980971941CHRNE,GP1BAc.1246_1362del (p.Glu416_Pro454del)
c.-888+378_-888+494del (n.-888+378_-888+494del)
c.1246_1284del
 gnomAD v3 gnomAD v4
17g.4933849delCA8314939CHRNE,GP1BAc.1245del (p.Glu416SerfsTer?)
c.-888+493del (n.-888+493del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933849A=CA2244625768CHRNE,GP1BAc.1245A= (p.Ser415=)
c.-888+493T= (n.-888+493T=)
17g.4933849A>CCA497677824CHRNE,GP1BAc.1245A>C (p.Ser415=)
c.-888+493T>G (n.-888+493T>G)
17g.4933849A>GCA497677825CHRNE,GP1BAc.1245A>G (p.Ser415=)
c.-888+493T>C (n.-888+493T>C)
17g.4933849A>TCA497677823CHRNE,GP1BAc.1245A>T (p.Ser415=)
c.-888+493T>A (n.-888+493T>A)
 dbSNP gnomAD v4
17g.4933849_4933852delCA2635579053CHRNE,GP1BAc.1245_1248del (p.Glu416ProfsTer?)
c.-888+490_-888+493del (n.-888+490_-888+493del)
c.1245_1248del (p.Glu416ProfsTer29)
 gnomAD v4
17g.4933851_4933852delCA2635579052CHRNE,GP1BAc.1247_1248del (p.Glu416AlafsTer?)
c.-888+492_-888+493del (n.-888+492_-888+493del)
 gnomAD v4
17g.4933850delCA2635579054CHRNE,GP1BAc.1246del (p.Glu416SerfsTer?)
c.-888+492del (n.-888+492del)
c.1246del (p.Glu416SerfsTer30)
 gnomAD v4
17g.4933850G>ACA397320626CHRNE,GP1BAc.1246G>A (p.Glu416Lys)
c.-888+492C>T (n.-888+492C>T)
 COSMIC
17g.4933850G>CCA397320628CHRNE,GP1BAc.1246G>C (p.Glu416Gln)
c.-888+492C>G (n.-888+492C>G)
 gnomAD v4
17g.4933850G>TCA397320630CHRNE,GP1BAc.1246G>T (p.Glu416Ter)
c.-888+492C>A (n.-888+492C>A)
17g.4933850_4933852delCA2635579055CHRNE,GP1BAc.1246_1248del (p.Glu416del)
c.-888+490_-888+492del (n.-888+490_-888+492del)
 gnomAD v4
17g.4933850_4933925delCA2635579056CHRNE,GP1BAc.1246_1321del (p.Glu416GlnfsTer?)
c.-888+417_-888+492del (n.-888+417_-888+492del)
c.1246_1273-30del
 gnomAD v4
17g.4933856_4933960delCA980971948CHRNE,GP1BAc.1252_1356del (p.Ala418_Pro452del)
c.-888+388_-888+492del (n.-888+388_-888+492del)
c.1252_1278del
 gnomAD v3 gnomAD v4
17g.4933851A=CA2244625770CHRNE,GP1BAc.1247A= (p.Glu416=)
c.-888+491T= (n.-888+491T=)
17g.4933851A>CCA397320632CHRNE,GP1BAc.1247A>C (p.Glu416Ala)
c.-888+491T>G (n.-888+491T>G)
17g.4933851A>GCA397320633CHRNE,GP1BAc.1247A>G (p.Glu416Gly)
c.-888+491T>C (n.-888+491T>C)
 dbSNP gnomAD v4
17g.4933851A>TCA397320635CHRNE,GP1BAc.1247A>T (p.Glu416Val)
c.-888+491T>A (n.-888+491T>A)
17g.4933851_4933852delinsAGCA2244625769CHRNE,GP1BAc.1247_1248delinsAG (p.Glu416=)
c.-888+490_-888+491delinsCT (n.-888+490_-888+491delinsCT)
17g.4933851_4933927delCA8314940CHRNE,GP1BAc.1247_1323del (p.Glu416GlyfsTer?)
c.-888+415_-888+491del (n.-888+415_-888+491del)
c.1247_1273-28del
 ExAC gnomAD v2 gnomAD v4
17g.4933852delCA624856146CHRNE,GP1BAc.1248del (p.Glu416AspfsTer?)
c.-888+490del (n.-888+490del)
c.1248del (p.Glu416AspfsTer30)
 dbSNP gnomAD v2 gnomAD v4
17g.4933852G>ACA497677946CHRNE,GP1BAc.1248G>A (p.Glu416=)
c.-888+490C>T (n.-888+490C>T)
17g.4933852G>CCA397320639CHRNE,GP1BAc.1248G>C (p.Glu416Asp)
c.-888+490C>G (n.-888+490C>G)
17g.4933852G=CA2244625771CHRNE,GP1BAc.1248G= (p.Glu416=)
c.-888+490C= (n.-888+490C=)
17g.4933852G>TCA397320641CHRNE,GP1BAc.1248G>T (p.Glu416Asp)
c.-888+490C>A (n.-888+490C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933852_4933861delCA2635579057CHRNE,GP1BAc.1248_1257del (p.Pro417AlafsTer?)
c.-888+481_-888+490del (n.-888+481_-888+490del)
c.1248_1257del (p.Pro417AlafsTer26)
 gnomAD v4
17g.4933852_4933883delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACA2244625772CHRNE,GP1BAc.1248_1279delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA (p.Glu416=)
c.-888+459_-888+490delinsTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGC (n.-888+459_-888+490delinsTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGC)
c.1248_1272+7delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA
17g.4933852_4933885delCA2635579058CHRNE,GP1BAc.1248_1281del (p.Glu416AspfsTer?)
c.-888+457_-888+490del (n.-888+457_-888+490del)
c.1248_1272+9del
 gnomAD v4
17g.4933853C>ACA397320643CHRNE,GP1BAc.1249C>A (p.Pro417Thr)
c.-888+489G>T (n.-888+489G>T)
17g.4933853C>GCA397320645CHRNE,GP1BAc.1249C>G (p.Pro417Ala)
c.-888+489G>C (n.-888+489G>C)
17g.4933853C>TCA397320646CHRNE,GP1BAc.1249C>T (p.Pro417Ser)
c.-888+489G>A (n.-888+489G>A)
 gnomAD v4
17g.4933856_4933861delCA2635579061CHRNE,GP1BAc.1252_1257del (p.Ala418_Pro419del)
c.-888+484_-888+489del (n.-888+484_-888+489del)
 gnomAD v4
17g.4933853_4933885delCA2635579059CHRNE,GP1BAc.1249_1281del (p.Pro417_Thr427del)
c.-888+457_-888+489del (n.-888+457_-888+489del)
c.1249_1272+9del
 gnomAD v4
17g.4933855_4933885delCA8314941CHRNE,GP1BAc.1251_1281del (p.Ala418GlnfsTer?)
c.-888+459_-888+489del (n.-888+459_-888+489del)
c.1251_1272+9del
 dbSNP ExAC gnomAD v4
17g.4933854_4933885delCA2635579062CHRNE,GP1BAc.1250_1281del (p.Pro417LeufsTer?)
c.-888+458_-888+489del (n.-888+458_-888+489del)
c.1250_1272+9del
 gnomAD v4
17g.4933854C>ACA397320650CHRNE,GP1BAc.1250C>A (p.Pro417His)
c.-888+488G>T (n.-888+488G>T)
 gnomAD v4
17g.4933854C=CA2244625773CHRNE,GP1BAc.1250C= (p.Pro417=)
c.-888+488G= (n.-888+488G=)
17g.4933854C>GCA397320649CHRNE,GP1BAc.1250C>G (p.Pro417Arg)
c.-888+488G>C (n.-888+488G>C)
17g.4933854C>TCA397320648CHRNE,GP1BAc.1250C>T (p.Pro417Leu)
c.-888+488G>A (n.-888+488G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933855C>ACA497677951CHRNE,GP1BAc.1251C>A (p.Pro417=)
c.-888+487G>T (n.-888+487G>T)
17g.4933855C=CA2244625774CHRNE,GP1BAc.1251C= (p.Pro417=)
c.-888+487G= (n.-888+487G=)
17g.4933855C>GCA497677952CHRNE,GP1BAc.1251C>G (p.Pro417=)
c.-888+487G>C (n.-888+487G>C)
 gnomAD v4
17g.4933855C>TCA8314942CHRNE,GP1BAc.1251C>T (p.Pro417=)
c.-888+487G>A (n.-888+487G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933856delCA980971961CHRNE,GP1BAc.1252del (p.Ala418ProfsTer?)
c.-888+486del (n.-888+486del)
c.1252del (p.Ala418ProfsTer28)
 dbSNP gnomAD v3 gnomAD v4
17g.4933856G>ACA8314943CHRNE,GP1BAc.1252G>A (p.Ala418Thr)
c.-888+486C>T (n.-888+486C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
17g.4933856G>CCA397320657CHRNE,GP1BAc.1252G>C (p.Ala418Pro)
c.-888+486C>G (n.-888+486C>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933856G=CA2244625775CHRNE,GP1BAc.1252G= (p.Ala418=)
c.-888+486C= (n.-888+486C=)
17g.4933856G>TCA397320658CHRNE,GP1BAc.1252G>T (p.Ala418Ser)
c.-888+486C>A (n.-888+486C>A)
 gnomAD v4
17g.4933857C>ACA397320659CHRNE,GP1BAc.1253C>A (p.Ala418Asp)
c.-888+485G>T (n.-888+485G>T)
 dbSNP
17g.4933857C=CA2244625776CHRNE,GP1BAc.1253C= (p.Ala418=)
c.-888+485G= (n.-888+485G=)
17g.4933857C>GCA397320661CHRNE,GP1BAc.1253C>G (p.Ala418Gly)
c.-888+485G>C (n.-888+485G>C)
 ClinVar
17g.4933857C>TCA397320662CHRNE,GP1BAc.1253C>T (p.Ala418Val)
c.-888+485G>A (n.-888+485G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933857_4933861dupCA2580610935CHRNE,GP1BAc.1253_1257dup (p.Ser420ProfsTer?)
c.-888+481_-888+485dup (n.-888+481_-888+485dup)
c.1253_1257dup (p.Ser420ProfsTer28)
17g.4933861delCA2635579070CHRNE,GP1BAc.1257del (p.Ser420AlafsTer?)
c.-888+485del (n.-888+485del)
c.1257del (p.Ser420AlafsTer26)
 gnomAD v4
17g.4933859_4933861delCA2635579071CHRNE,GP1BAc.1255_1257del (p.Pro419del)
c.-888+483_-888+485del (n.-888+483_-888+485del)
 gnomAD v4
17g.4933858_4933933delCA1139589209CHRNE,GP1BAc.1254_1329del (p.Ser420ProfsTer27)
c.-888+410_-888+485del (n.-888+410_-888+485del)
c.1254_1273-22del
17g.4933861_4933939delCA2635579072CHRNE,GP1BAc.1257_1335del (p.Ser420AlafsTer26)
c.-888+407_-888+485del (n.-888+407_-888+485del)
c.1257_1273-16del
 gnomAD v4
17g.4933858C>ACA497677956CHRNE,GP1BAc.1254C>A (p.Ala418=)
c.-888+484G>T (n.-888+484G>T)
 gnomAD v4
17g.4933858C>GCA497677957CHRNE,GP1BAc.1254C>G (p.Ala418=)
c.-888+484G>C (n.-888+484G>C)
17g.4933858C>TCA497677959CHRNE,GP1BAc.1254C>T (p.Ala418=)
c.-888+484G>A (n.-888+484G>A)
17g.4933859C>ACA397320663CHRNE,GP1BAc.1255C>A (p.Pro419Thr)
c.-888+483G>T (n.-888+483G>T)
 gnomAD v3 gnomAD v4
17g.4933859C>GCA397320664CHRNE,GP1BAc.1255C>G (p.Pro419Ala)
c.-888+483G>C (n.-888+483G>C)
17g.4933859C>TCA397320665CHRNE,GP1BAc.1255C>T (p.Pro419Ser)
c.-888+483G>A (n.-888+483G>A)
 gnomAD v4
17g.4933860C>ACA397320667CHRNE,GP1BAc.1256C>A (p.Pro419His)
c.-888+482G>T (n.-888+482G>T)
17g.4933860C>GCA397320669CHRNE,GP1BAc.1256C>G (p.Pro419Arg)
c.-888+482G>C (n.-888+482G>C)
17g.4933860C>TCA397320670CHRNE,GP1BAc.1256C>T (p.Pro419Leu)
c.-888+482G>A (n.-888+482G>A)
17g.4933862_4933893delCA2635579073CHRNE,GP1BAc.1258_1289del (p.Ser420ArgfsTer?)
c.-888+451_-888+482del (n.-888+451_-888+482del)
c.1258_1272+17del
 gnomAD v4
17g.4933861C>ACA497677961CHRNE,GP1BAc.1257C>A (p.Pro419=)
c.-888+481G>T (n.-888+481G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933861C=CA2244625777CHRNE,GP1BAc.1257C= (p.Pro419=)
c.-888+481G= (n.-888+481G=)
17g.4933861C>GCA497677962CHRNE,GP1BAc.1257C>G (p.Pro419=)
c.-888+481G>C (n.-888+481G>C)
17g.4933861C>TCA497677963CHRNE,GP1BAc.1257C>T (p.Pro419=)
c.-888+481G>A (n.-888+481G>A)
 gnomAD v4
17g.4933862_4933869delCA2635579075CHRNE,GP1BAc.1258_1265del (p.Ser420HisfsTer?)
c.-888+474_-888+481del (n.-888+474_-888+481del)
 gnomAD v4
17g.4933862_4933892delCA2635579074CHRNE,GP1BAc.1258_1288del (p.Ser420ProfsTer?)
c.-888+451_-888+481del (n.-888+451_-888+481del)
c.1258_1272+16del
 gnomAD v4
17g.4933862A=CA2244625778CHRNE,GP1BAc.1258A= (p.Ser420=)
c.-888+480T= (n.-888+480T=)
17g.4933862A>CCA397320673CHRNE,GP1BAc.1258A>C (p.Ser420Arg)
c.-888+480T>G (n.-888+480T>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.4933862A>GCA397320674CHRNE,GP1BAc.1258A>G (p.Ser420Gly)
c.-888+480T>C (n.-888+480T>C)
 gnomAD v4
17g.4933862A>TCA397320671CHRNE,GP1BAc.1258A>T (p.Ser420Cys)
c.-888+480T>A (n.-888+480T>A)
17g.4933862_4933863delCA2557364225CHRNE,GP1BAc.1258_1259del (p.Ser420ProfsTer?)
c.-888+479_-888+480del (n.-888+479_-888+480del)
 dbSNP gnomAD v4
17g.4933862_4933868delCA980971969CHRNE,GP1BAc.1258_1264del (p.Ser420ProfsTer?)
c.-888+474_-888+480del (n.-888+474_-888+480del)
c.1258_1264del (p.Ser420ProfsTer24)
 gnomAD v3 gnomAD v4
17g.4933862_4933871delCA2635579078CHRNE,GP1BAc.1258_1267del (p.Ser420ProfsTer?)
c.-888+471_-888+480del (n.-888+471_-888+480del)
c.1258_1267del (p.Ser420ProfsTer23)
 gnomAD v4
17g.4933862_4933882delinsAGCCCGACCACCCCGGAGCCCCA2244625779CHRNE,GP1BAc.1258_1278delinsAGCCCGACCACCCCGGAGCCC (p.Ser420=)
c.-888+460_-888+480delinsGGGCTCCGGGGTGGTCGGGCT (n.-888+460_-888+480delinsGGGCTCCGGGGTGGTCGGGCT)
c.1258_1272+6delinsAGCCCGACCACCCCGGAGCCC
17g.4933862_4933895delCA980971973CHRNE,GP1BAc.1258_1291del (p.Ser420ProfsTer?)
c.-888+447_-888+480del (n.-888+447_-888+480del)
c.1258_1272+19del
 gnomAD v3 gnomAD v4
17g.4933863delCA2635579086CHRNE,GP1BAc.1259del (p.Ser420ThrfsTer?)
c.-888+479del (n.-888+479del)
c.1259del (p.Ser420ThrfsTer26)
 gnomAD v4
17g.4933863G>ACA397320675CHRNE,GP1BAc.1259G>A (p.Ser420Asn)
c.-888+479C>T (n.-888+479C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933863G>CCA397320676CHRNE,GP1BAc.1259G>C (p.Ser420Thr)
c.-888+479C>G (n.-888+479C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933863G=CA2244625780CHRNE,GP1BAc.1259G= (p.Ser420=)
c.-888+479C= (n.-888+479C=)
17g.4933863G>TCA397320677CHRNE,GP1BAc.1259G>T (p.Ser420Ile)
c.-888+479C>A (n.-888+479C>A)
 gnomAD v4
17g.4933863_4933867delCA2635579085CHRNE,GP1BAc.1259_1263del (p.Ser420AsnfsTer?)
c.-888+475_-888+479del (n.-888+475_-888+479del)
 gnomAD v4
17g.4933864_4933877delCA2635579082CHRNE,GP1BAc.1260_1273del (p.Ser420ArgfsTer?)
c.-888+466_-888+479del (n.-888+466_-888+479del)
c.1260_1272+1del
 gnomAD v4
17g.4933863_4933882delCA624856147CHRNE,GP1BAc.1259_1278del (p.Ser420AsnfsTer?)
c.-888+460_-888+479del (n.-888+460_-888+479del)
c.1259_1272+6del
 dbSNP gnomAD v2
17g.4933863_4933883delinsGCCCGACCACCCCGGAGCCCACA2244625781CHRNE,GP1BAc.1259_1279delinsGCCCGACCACCCCGGAGCCCA (p.Ser420=)
c.-888+459_-888+479delinsTGGGCTCCGGGGTGGTCGGGC (n.-888+459_-888+479delinsTGGGCTCCGGGGTGGTCGGGC)
c.1259_1272+7delinsGCCCGACCACCCCGGAGCCCA
17g.4933863_4933895delCA2635579081CHRNE,GP1BAc.1259_1291del (p.Ser420_Ala431delinsThr)
c.-888+447_-888+479del (n.-888+447_-888+479del)
c.1259_1272+19del
 gnomAD v4
17g.4933863_4933934delCA2635579080CHRNE,GP1BAc.1259_1330del (p.Ser420_Ala444delinsThr)
c.-888+408_-888+479del (n.-888+408_-888+479del)
c.1259_1273-21del
 gnomAD v4
17g.4933864C>ACA397320679CHRNE,GP1BAc.1260C>A (p.Ser420Arg)
c.-888+478G>T (n.-888+478G>T)
 gnomAD v4
17g.4933864C>GCA397320681CHRNE,GP1BAc.1260C>G (p.Ser420Arg)
c.-888+478G>C (n.-888+478G>C)
 gnomAD v4
17g.4933864C>TCA497677968CHRNE,GP1BAc.1260C>T (p.Ser420=)
c.-888+478G>A (n.-888+478G>A)
 gnomAD v4
17g.4933864_4933885delCA2635579088CHRNE,GP1BAc.1260_1281del (p.Pro421GlnfsTer?)
c.-888+457_-888+478del (n.-888+457_-888+478del)
c.1260_1272+9del
 gnomAD v4
17g.4933866_4933885delCA624856148CHRNE,GP1BAc.1262_1281del (p.Pro421LeufsTer?)
c.-888+459_-888+478del (n.-888+459_-888+478del)
c.1262_1272+9del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933872_4933976delCA8314944CHRNE,GP1BAc.1268_1372del (p.Thr423_Thr457del)
c.-888+374_-888+478del (n.-888+374_-888+478del)
c.1268_1294del
 ExAC gnomAD v3 gnomAD v4
17g.4933865C>ACA397320683CHRNE,GP1BAc.1261C>A (p.Pro421Thr)
c.-888+477G>T (n.-888+477G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933865C=CA2244625782CHRNE,GP1BAc.1261C= (p.Pro421=)
c.-888+477G= (n.-888+477G=)
17g.4933865C>GCA397320684CHRNE,GP1BAc.1261C>G (p.Pro421Ala)
c.-888+477G>C (n.-888+477G>C)
17g.4933865C>TCA397320686CHRNE,GP1BAc.1261C>T (p.Pro421Ser)
c.-888+477G>A (n.-888+477G>A)
 gnomAD v4
17g.4933865_4933867delCA2635579090CHRNE,GP1BAc.1261_1263del (p.Pro421del)
c.-888+475_-888+477del (n.-888+475_-888+477del)
 gnomAD v4
17g.4933867_4933885delCA2635579091CHRNE,GP1BAc.1263_1281del (p.Thr422GlnfsTer?)
c.-888+459_-888+477del (n.-888+459_-888+477del)
c.1263_1272+9del
 gnomAD v4
17g.4933866C>ACA397320688CHRNE,GP1BAc.1262C>A (p.Pro421Gln)
c.-888+476G>T (n.-888+476G>T)
 gnomAD v4
17g.4933866C=CA2244625783CHRNE,GP1BAc.1262C= (p.Pro421=)
c.-888+476G= (n.-888+476G=)
17g.4933866C>GCA397320690CHRNE,GP1BAc.1262C>G (p.Pro421Arg)
c.-888+476G>C (n.-888+476G>C)
17g.4933866C>TCA8314945CHRNE,GP1BAc.1262C>T (p.Pro421Leu)
c.-888+476G>A (n.-888+476G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933867_4933869delCA2576136025CHRNE,GP1BAc.1263_1265del (p.Thr422del)
c.-888+474_-888+476del (n.-888+474_-888+476del)
 gnomAD v4
17g.4933867G>ACA8314946CHRNE,GP1BAc.1263G>A (p.Pro421=)
c.-888+475C>T (n.-888+475C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933867G>CCA497677974CHRNE,GP1BAc.1263G>C (p.Pro421=)
c.-888+475C>G (n.-888+475C>G)
 dbSNP gnomAD v4
17g.4933867G=CA2244625784CHRNE,GP1BAc.1263G= (p.Pro421=)
c.-888+475C= (n.-888+475C=)
17g.4933867G>TCA497677972CHRNE,GP1BAc.1263G>T (p.Pro421=)
c.-888+475C>A (n.-888+475C>A)
17g.4933867_4933868delCA2573054471CHRNE,GP1BAc.1263_1264del (p.Thr422HisfsTer?)
c.-888+474_-888+475del (n.-888+474_-888+475del)
 ClinVar dbSNP gnomAD v4
17g.4933867_4933871delCA2635579101CHRNE,GP1BAc.1263_1267del (p.Thr422ProfsTer?)
c.-888+471_-888+475del (n.-888+471_-888+475del)
 gnomAD v4
17g.4933868delCA2635579103CHRNE,GP1BAc.1264del (p.Thr422ProfsTer?)
c.-888+474del (n.-888+474del)
c.1264del (p.Thr422ProfsTer24)
 gnomAD v4
17g.4933868A=CA2244625786CHRNE,GP1BAc.1264A= (p.Thr422=)
c.-888+474T= (n.-888+474T=)
17g.4933868A>CCA397320693CHRNE,GP1BAc.1264A>C (p.Thr422Pro)
c.-888+474T>G (n.-888+474T>G)
 gnomAD v4
17g.4933868A>GCA397320694CHRNE,GP1BAc.1264A>G (p.Thr422Ala)
c.-888+474T>C (n.-888+474T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933868A>TCA397320696CHRNE,GP1BAc.1264A>T (p.Thr422Ser)
c.-888+474T>A (n.-888+474T>A)
 gnomAD v4
17g.4933868_4933871delCA2635579104CHRNE,GP1BAc.1264_1267del (p.Thr422ProfsTer?)
c.-888+471_-888+474del (n.-888+471_-888+474del)
c.1264_1267del (p.Thr422ProfsTer23)
 gnomAD v4
17g.4933868_4933884delinsACCACCCCGGAGCCCACCA2244625785CHRNE,GP1BAc.1264_1280delinsACCACCCCGGAGCCCAC (p.Thr422=)
c.-888+458_-888+474delinsGTGGGCTCCGGGGTGGT (n.-888+458_-888+474delinsGTGGGCTCCGGGGTGGT)
c.1264_1272+8delinsACCACCCCGGAGCCCAC
17g.4933869C>ACA397320700CHRNE,GP1BAc.1265C>A (p.Thr422Asn)
c.-888+473G>T (n.-888+473G>T)
 gnomAD v4
17g.4933869C>GCA397320698CHRNE,GP1BAc.1265C>G (p.Thr422Ser)
c.-888+473G>C (n.-888+473G>C)
17g.4933869C>TCA397320697CHRNE,GP1BAc.1265C>T (p.Thr422Ile)
c.-888+473G>A (n.-888+473G>A)
17g.4933870dupCA2808297185CHRNE,GP1BAc.1266dup (p.Thr423HisfsTer?)
c.-888+473dup (n.-888+473dup)
17g.4933871_4933875delCA2635579120CHRNE,GP1BAc.1267_1271del (p.Thr423GlyfsTer?)
c.-888+469_-888+473del (n.-888+469_-888+473del)
 gnomAD v4
17g.4933870_4933885delCA8314947CHRNE,GP1BAc.1266_1281del (p.Thr423GlnfsTer?)
c.-888+458_-888+473del (n.-888+458_-888+473del)
c.1266_1272+9del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933876_4933965delCA2635579121CHRNE,GP1BAc.1272_1361del (p.Glu425_Pro454del)
c.-888+384_-888+473del (n.-888+384_-888+473del)
c.1272_1283del
 gnomAD v4
17g.4933870C>ACA497677981CHRNE,GP1BAc.1266C>A (p.Thr422=)
c.-888+472G>T (n.-888+472G>T)
 gnomAD v4
17g.4933870C=CA2244625787CHRNE,GP1BAc.1266C= (p.Thr422=)
c.-888+472G= (n.-888+472G=)
17g.4933870C>GCA497677980CHRNE,GP1BAc.1266C>G (p.Thr422=)
c.-888+472G>C (n.-888+472G>C)
17g.4933870C>TCA497677982CHRNE,GP1BAc.1266C>T (p.Thr422=)
c.-888+472G>A (n.-888+472G>A)
 dbSNP gnomAD v4
17g.4933870_4933945delCA2808297187CHRNE,GP1BAc.1266_1341del (p.Thr423ProfsTer24)
c.-888+397_-888+472del (n.-888+397_-888+472del)
c.1266_1273-10del
17g.4933871delCA2635579125CHRNE,GP1BAc.1267del (p.Thr423ProfsTer?)
c.-888+471del (n.-888+471del)
c.1267del (p.Thr423ProfsTer23)
 dbSNP gnomAD v4
17g.4933871A=CA2244625788CHRNE,GP1BAc.1267A= (p.Thr423=)
c.-888+471T= (n.-888+471T=)
17g.4933871A>CCA397320702CHRNE,GP1BAc.1267A>C (p.Thr423Pro)
c.-888+471T>G (n.-888+471T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933871A>GCA397320703CHRNE,GP1BAc.1267A>G (p.Thr423Ala)
c.-888+471T>C (n.-888+471T>C)
 dbSNP
17g.4933871A>TCA397320705CHRNE,GP1BAc.1267A>T (p.Thr423Ser)
c.-888+471T>A (n.-888+471T>A)
17g.4933871_4933872insTCA2635579128CHRNE,GP1BAc.1267_1268insT (p.Thr423IlefsTer?)
c.-888+470_-888+471insA (n.-888+470_-888+471insA)
 gnomAD v4
17g.4933872C>ACA397320706CHRNE,GP1BAc.1268C>A (p.Thr423Asn)
c.-888+470G>T (n.-888+470G>T)
17g.4933872C=CA2244625789CHRNE,GP1BAc.1268C= (p.Thr423=)
c.-888+470G= (n.-888+470G=)
17g.4933872C>GCA397320708CHRNE,GP1BAc.1268C>G (p.Thr423Ser)
c.-888+470G>C (n.-888+470G>C)
17g.4933872C>TCA397320709CHRNE,GP1BAc.1268C>T (p.Thr423Ile)
c.-888+470G>A (n.-888+470G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933872_4933877delCA2635579129CHRNE,GP1BAc.1268_1273del (p.Thr423_Glu425delinsLys)
c.-888+465_-888+470del (n.-888+465_-888+470del)
c.1268_1272+1del
 gnomAD v4
17g.4933872_4933883delinsCCCCGGAGCCCACA2244625790CHRNE,GP1BAc.1268_1279delinsCCCCGGAGCCCA (p.Thr423=)
c.-888+459_-888+470delinsTGGGCTCCGGGG (n.-888+459_-888+470delinsTGGGCTCCGGGG)
c.1268_1272+7delinsCCCCGGAGCCCA
17g.4933872_4933885delCA2635579130CHRNE,GP1BAc.1268_1281del (p.Thr423IlefsTer?)
c.-888+457_-888+470del (n.-888+457_-888+470del)
c.1268_1272+9del
 gnomAD v4
17g.4933873C>ACA497677986CHRNE,GP1BAc.1269C>A (p.Thr423=)
c.-888+469G>T (n.-888+469G>T)
 gnomAD v4
17g.4933873C=CA2244625791CHRNE,GP1BAc.1269C= (p.Thr423=)
c.-888+469G= (n.-888+469G=)
17g.4933873C>GCA497677987CHRNE,GP1BAc.1269C>G (p.Thr423=)
c.-888+469G>C (n.-888+469G>C)
 gnomAD v4
17g.4933873C>TCA8314948CHRNE,GP1BAc.1269C>T (p.Thr423=)
c.-888+469G>A (n.-888+469G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933875_4933885delCA624856149CHRNE,GP1BAc.1271_1281del (p.Pro424LeufsTer?)
c.-888+459_-888+469del (n.-888+459_-888+469del)
c.1271_1272+9del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933874C>ACA397320712CHRNE,GP1BAc.1270C>A (p.Pro424Thr)
c.-888+468G>T (n.-888+468G>T)
17g.4933874C>GCA397320715CHRNE,GP1BAc.1270C>G (p.Pro424Ala)
c.-888+468G>C (n.-888+468G>C)
17g.4933874C>TCA397320713CHRNE,GP1BAc.1270C>T (p.Pro424Ser)
c.-888+468G>A (n.-888+468G>A)
17g.4933876_4933885delCA2808297189CHRNE,GP1BAc.1272_1281del (p.Glu425GlnfsTer?)
c.-888+459_-888+468del (n.-888+459_-888+468del)
c.1272_1272+9del
17g.4933876_4933904delCA2635579135CHRNE,GP1BAc.1272_1300del (p.Glu425AspfsTer?)
c.-888+440_-888+468del (n.-888+440_-888+468del)
c.1272_1272+28del
 gnomAD v4
17g.4933876_4933909delCA2635579136CHRNE,GP1BAc.1272_1305del (p.Glu425ProfsTer?)
c.-888+435_-888+468del (n.-888+435_-888+468del)
c.1272_1272+33del
 gnomAD v4
17g.4933875C>ACA397320717CHRNE,GP1BAc.1271C>A (p.Pro424Gln)
c.-888+467G>T (n.-888+467G>T)
17g.4933875C=CA2244625792CHRNE,GP1BAc.1271C= (p.Pro424=)
c.-888+467G= (n.-888+467G=)
17g.4933875C>GCA397320718CHRNE,GP1BAc.1271C>G (p.Pro424Arg)
c.-888+467G>C (n.-888+467G>C)
17g.4933875C>TCA8314949CHRNE,GP1BAc.1271C>T (p.Pro424Leu)
c.-888+467G>A (n.-888+467G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933875_4933877delinsCGGCA2244625793CHRNE,GP1BAc.1271_1273delinsCGG (p.Pro424=)
c.-888+465_-888+467delinsCCG (n.-888+465_-888+467delinsCCG)
c.1271_1272+1delinsCGG
17g.4933875_4933876insACAACA2635579144CHRNE,GP1BAc.1271_1272insACAA (p.Glu425GlnfsTer?)
c.-888+466_-888+467insTTGT (n.-888+466_-888+467insTTGT)
 gnomAD v4
17g.4933876G>ACA287217225CHRNE,GP1BAc.1272G>A (p.Pro424=)
c.-888+466C>T (n.-888+466C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933876G>CCA497677992CHRNE,GP1BAc.1272G>C (p.Pro424=)
c.-888+466C>G (n.-888+466C>G)
 dbSNP gnomAD v4
17g.4933876G=CA2244625794CHRNE,GP1BAc.1272G= (p.Pro424=)
c.-888+466C= (n.-888+466C=)
17g.4933876G>TCA497677993CHRNE,GP1BAc.1272G>T (p.Pro424=)
c.-888+466C>A (n.-888+466C>A)
 gnomAD v3 gnomAD v4
17g.4933876_4933877delCA980972008CHRNE,GP1BAc.1272_1273del (p.Glu425AlafsTer?)
c.-888+465_-888+466del (n.-888+465_-888+466del)
c.1272_1272+1del
 dbSNP gnomAD v3 gnomAD v4
17g.4933876_4933878delinsGGACA2244625795CHRNE,GP1BAc.1272_1274delinsGGA (p.Pro424=)
c.-888+464_-888+466delinsTCC (n.-888+464_-888+466delinsTCC)
c.1272_1272+2delinsGGA
17g.4933876_4933879delCA2635579142CHRNE,GP1BAc.1272_1275del (p.Glu425ProfsTer?)
c.-888+463_-888+466del (n.-888+463_-888+466del)
c.1272_1272+3del
 gnomAD v4
17g.4933876_4933891delCA2808297195CHRNE,GP1BAc.1272_1287del (p.Glu425ProfsTer?)
c.-888+451_-888+466del (n.-888+451_-888+466del)
c.1272_1272+15del
17g.4933876_4933895delCA2635579140CHRNE,GP1BAc.1272_1291del (p.Glu425ProfsTer?)
c.-888+447_-888+466del (n.-888+447_-888+466del)
c.1272_1272+19del
 gnomAD v4
17g.4933876_4933907delCA2635579145CHRNE,GP1BAc.1272_1303del (p.Glu425HisfsTer?)
c.-888+435_-888+466del (n.-888+435_-888+466del)
c.1272_1272+31del
 gnomAD v4
17g.4933876_4933915delinsGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCACA2244625796CHRNE,GP1BAc.1272_1311delinsGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Pro424=)
c.-888+427_-888+466delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCC (n.-888+427_-888+466delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCC)
c.1272_1273-40delinsGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA
17g.4933877G>ACA397320726CHRNE,GP1BAc.1273G>A (p.Glu425Lys)
c.-888+465C>T (n.-888+465C>T)
c.1272+1G>A (n.1272+1G>A)
17g.4933877G>CCA397320725CHRNE,GP1BAc.1273G>C (p.Glu425Gln)
c.-888+465C>G (n.-888+465C>G)
c.1272+1G>C (n.1272+1G>C)
17g.4933877G>TCA397320727CHRNE,GP1BAc.1273G>T (p.Glu425Ter)
c.-888+465C>A (n.-888+465C>A)
c.1272+1G>T (n.1272+1G>T)
17g.4933878_4933879delCA8314951CHRNE,GP1BAc.1274_1275del (p.Glu425AlafsTer?)
c.-888+464_-888+465del (n.-888+464_-888+465del)
c.1272+2_1272+3del (n.1272+2_1272+3del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933883_4933894delCA2635579152CHRNE,GP1BAc.1279_1290del (p.Thr427_Pro430del)
c.-888+454_-888+465del (n.-888+454_-888+465del)
c.1272+7_1272+18del (n.1272+7_1272+18del)
 gnomAD v4
17g.4933915_4933953delCA8314950CHRNE,GP1BAc.1311_1349del (p.Glu438_Pro450del)
c.-888+427_-888+465del (n.-888+427_-888+465del)
c.1273-40_1273-2del (n.1273-40_1273-2del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933878delCA2553631673CHRNE,GP1BAc.1274del (p.Glu425GlyfsTer?)
c.-888+464del (n.-888+464del)
c.1272+2del (n.1272+2del)
17g.4933878A=CA2244625797CHRNE,GP1BAc.1274A= (p.Glu425=)
c.-888+464T= (n.-888+464T=)
c.1272+2A= (n.1272+2A=)
17g.4933878A>CCA8314953CHRNE,GP1BAc.1274A>C (p.Glu425Ala)
c.-888+464T>G (n.-888+464T>G)
c.1272+2A>C (n.1272+2A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933878A>GCA397320729CHRNE,GP1BAc.1274A>G (p.Glu425Gly)
c.-888+464T>C (n.-888+464T>C)
c.1272+2A>G (n.1272+2A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933878A>TCA397320730CHRNE,GP1BAc.1274A>T (p.Glu425Val)
c.-888+464T>A (n.-888+464T>A)
c.1272+2A>T (n.1272+2A>T)
 gnomAD v3 gnomAD v4
17g.4933878_4933882delinsAGCCCCA2244625798CHRNE,GP1BAc.1274_1278delinsAGCCC (p.Glu425=)
c.-888+460_-888+464delinsGGGCT (n.-888+460_-888+464delinsGGGCT)
c.1272+2_1272+6delinsAGCCC (n.1272+2_1272+6delinsAGCCC)
17g.4933878_4933954delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGCA2244625799CHRNE,GP1BAc.1274_1350delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (p.Glu425=)
c.-888+388_-888+464delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCT (n.-888+388_-888+464delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCT)
c.1272+2_1273-1delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (n.1272+2_1273-1delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG)
17g.4933879G>ACA497678006CHRNE,GP1BAc.1275G>A (p.Glu425=)
c.-888+463C>T (n.-888+463C>T)
c.1272+3G>A (n.1272+3G>A)
 dbSNP
17g.4933879G>CCA397320732CHRNE,GP1BAc.1275G>C (p.Glu425Asp)
c.-888+463C>G (n.-888+463C>G)
c.1272+3G>C (n.1272+3G>C)
17g.4933879G=CA2244625801CHRNE,GP1BAc.1275G= (p.Glu425=)
c.-888+463C= (n.-888+463C=)
c.1272+3G= (n.1272+3G=)
17g.4933879G>TCA397320735CHRNE,GP1BAc.1275G>T (p.Glu425Asp)
c.-888+463C>A (n.-888+463C>A)
c.1272+3G>T (n.1272+3G>T)
17g.4933879_4933882delCA8314952CHRNE,GP1BAc.1275_1278del (p.Thr427GlnfsTer?)
c.-888+460_-888+463del (n.-888+460_-888+463del)
c.1272+3_1272+6del (n.1272+3_1272+6del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933879_4933884delinsGCCCACCA2244625800CHRNE,GP1BAc.1275_1280delinsGCCCAC (p.Glu425=)
c.-888+458_-888+463delinsGTGGGC (n.-888+458_-888+463delinsGTGGGC)
c.1272+3_1272+8delinsGCCCAC (n.1272+3_1272+8delinsGCCCAC)
17g.4933880_4933955delCA980972020CHRNE,GP1BAc.1276_1351del (p.Pro426SerfsTer21)
c.-888+388_-888+463del (n.-888+388_-888+463del)
c.1272+4_1273del
 dbSNP gnomAD v3 gnomAD v4
17g.4933880C>ACA397320737CHRNE,GP1BAc.1276C>A (p.Pro426Thr)
c.-888+462G>T (n.-888+462G>T)
c.1272+4C>A (n.1272+4C>A)
 gnomAD v4
17g.4933880C>GCA397320740CHRNE,GP1BAc.1276C>G (p.Pro426Ala)
c.-888+462G>C (n.-888+462G>C)
c.1272+4C>G (n.1272+4C>G)
17g.4933880C>TCA397320739CHRNE,GP1BAc.1276C>T (p.Pro426Ser)
c.-888+462G>A (n.-888+462G>A)
c.1272+4C>T (n.1272+4C>T)
17g.4933882delCA2576136026CHRNE,GP1BAc.1278del (p.Thr427ProfsTer?)
c.-888+462del (n.-888+462del)
c.1272+6del (n.1272+6del)
17g.4933881_4933882delCA2635579165CHRNE,GP1BAc.1277_1278del (p.Pro426HisfsTer?)
c.-888+461_-888+462del (n.-888+461_-888+462del)
c.1272+5_1272+6del (n.1272+5_1272+6del)
 gnomAD v4
17g.4933880_4933885delCA2635579166CHRNE,GP1BAc.1276_1281del (p.Pro426_Thr427del)
c.-888+457_-888+462del (n.-888+457_-888+462del)
c.1272+4_1272+9del (n.1272+4_1272+9del)
 gnomAD v4
17g.4933882_4933885delCA8314954CHRNE,GP1BAc.1278_1281del (p.Thr427GlnfsTer?)
c.-888+459_-888+462del (n.-888+459_-888+462del)
c.1272+6_1272+9del (n.1272+6_1272+9del)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.4933881_4933885delCA624856150CHRNE,GP1BAc.1277_1281del (p.Pro426LeufsTer?)
c.-888+458_-888+462del (n.-888+458_-888+462del)
c.1272+5_1272+9del (n.1272+5_1272+9del)
 dbSNP gnomAD v2
17g.4933880_4933917delCA2535530941CHRNE,GP1BAc.1276_1313del (p.Pro426AlafsTer?)
c.-888+425_-888+462del (n.-888+425_-888+462del)
c.1272+4_1273-38del (n.1272+4_1273-38del)
17g.4933880_4933917delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGACA2244625802CHRNE,GP1BAc.1276_1313delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (p.Pro426=)
c.-888+425_-888+462delinsTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGG (n.-888+425_-888+462delinsTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGG)
c.1272+4_1273-38delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (n.1272+4_1273-38delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA)
17g.4933881C>ACA397320741CHRNE,GP1BAc.1277C>A (p.Pro426His)
c.-888+461G>T (n.-888+461G>T)
c.1272+5C>A (n.1272+5C>A)
17g.4933881C>GCA397320745CHRNE,GP1BAc.1277C>G (p.Pro426Arg)
c.-888+461G>C (n.-888+461G>C)
c.1272+5C>G (n.1272+5C>G)
17g.4933881C>TCA397320744CHRNE,GP1BAc.1277C>T (p.Pro426Leu)
c.-888+461G>A (n.-888+461G>A)
c.1272+5C>T (n.1272+5C>T)
17g.4933881_4933888delCA2635579173CHRNE,GP1BAc.1277_1284del (p.Pro426ArgfsTer?)
c.-888+454_-888+461del (n.-888+454_-888+461del)
c.1272+5_1272+12del (n.1272+5_1272+12del)
 gnomAD v4
17g.4933886_4933912delCA2635579171CHRNE,GP1BAc.1282_1308del (p.Ser428_Thr436del)
c.-888+435_-888+461del (n.-888+435_-888+461del)
c.1272+10_1272+36del (n.1272+10_1272+36del)
 gnomAD v4
17g.4933881_4933915delCA2635579168CHRNE,GP1BAc.1277_1311del (p.Pro426ArgfsTer?)
c.-888+427_-888+461del (n.-888+427_-888+461del)
c.1272+5_1273-40del (n.1272+5_1273-40del)
 gnomAD v4
17g.4933881_4933917delCA8314955CHRNE,GP1BAc.1277_1313del (p.Pro426ArgfsTer?)
c.-888+425_-888+461del (n.-888+425_-888+461del)
c.1272+5_1273-38del (n.1272+5_1273-38del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933882C>ACA497678014CHRNE,GP1BAc.1278C>A (p.Pro426=)
c.-888+460G>T (n.-888+460G>T)
c.1272+6C>A (n.1272+6C>A)
17g.4933882C=CA2244625803CHRNE,GP1BAc.1278C= (p.Pro426=)
c.-888+460G= (n.-888+460G=)
c.1272+6C= (n.1272+6C=)
17g.4933882C>GCA497678012CHRNE,GP1BAc.1278C>G (p.Pro426=)
c.-888+460G>C (n.-888+460G>C)
c.1272+6C>G (n.1272+6C>G)
17g.4933882C>TCA497678013CHRNE,GP1BAc.1278C>T (p.Pro426=)
c.-888+460G>A (n.-888+460G>A)
c.1272+6C>T (n.1272+6C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933883delCA2635579175CHRNE,GP1BAc.1279del (p.Thr427ProfsTer?)
c.-888+459del (n.-888+459del)
c.1272+7del (n.1272+7del)
 gnomAD v4
17g.4933883A=CA2244625805CHRNE,GP1BAc.1279A= (p.Thr427=)
c.-888+459T= (n.-888+459T=)
c.1272+7A= (n.1272+7A=)
17g.4933883A>CCA397320747CHRNE,GP1BAc.1279A>C (p.Thr427Pro)
c.-888+459T>G (n.-888+459T>G)
c.1272+7A>C (n.1272+7A>C)
 dbSNP gnomAD v4
17g.4933883A>GCA397320750CHRNE,GP1BAc.1279A>G (p.Thr427Ala)
c.-888+459T>C (n.-888+459T>C)
c.1272+7A>G (n.1272+7A>G)
17g.4933883A>TCA397320748CHRNE,GP1BAc.1279A>T (p.Thr427Ser)
c.-888+459T>A (n.-888+459T>A)
c.1272+7A>T (n.1272+7A>T)
17g.4933883_4933885delinsACCCA2244625807CHRNE,GP1BAc.1279_1281delinsACC (p.Thr427=)
c.-888+457_-888+459delinsGGT (n.-888+457_-888+459delinsGGT)
c.1272+7_1272+9delinsACC (n.1272+7_1272+9delinsACC)
17g.4933883_4933895delCA2808297205CHRNE,GP1BAc.1279_1291del (p.Thr427ProfsTer?)
c.-888+447_-888+459del (n.-888+447_-888+459del)
c.1272+7_1272+19del (n.1272+7_1272+19del)
17g.4933883_4933895delinsACCTCAGAGCCCGCA2244625804CHRNE,GP1BAc.1279_1291delinsACCTCAGAGCCCG (p.Thr427=)
c.-888+447_-888+459delinsCGGGCTCTGAGGT (n.-888+447_-888+459delinsCGGGCTCTGAGGT)
c.1272+7_1272+19delinsACCTCAGAGCCCG (n.1272+7_1272+19delinsACCTCAGAGCCCG)
17g.4933883_4933896delinsACCTCAGAGCCCGCCA2244625808CHRNE,GP1BAc.1279_1292delinsACCTCAGAGCCCGC (p.Thr427=)
c.-888+446_-888+459delinsGCGGGCTCTGAGGT (n.-888+446_-888+459delinsGCGGGCTCTGAGGT)
c.1272+7_1272+20delinsACCTCAGAGCCCGC (n.1272+7_1272+20delinsACCTCAGAGCCCGC)
17g.4933883_4933957delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCA2244625806CHRNE,GP1BAc.1279_1353delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG (p.Thr427=)
c.-888+385_-888+459delinsCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGT (n.-888+385_-888+459delinsCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGT)
c.1272+7_1275delinsACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAG
17g.4933884C>ACA397320751CHRNE,GP1BAc.1280C>A (p.Thr427Asn)
c.-888+458G>T (n.-888+458G>T)
c.1272+8C>A (n.1272+8C>A)
 gnomAD v4
17g.4933884C=CA2244625809CHRNE,GP1BAc.1280C= (p.Thr427=)
c.-888+458G= (n.-888+458G=)
c.1272+8C= (n.1272+8C=)
17g.4933884C>GCA397320756CHRNE,GP1BAc.1280C>G (p.Thr427Ser)
c.-888+458G>C (n.-888+458G>C)
c.1272+8C>G (n.1272+8C>G)
17g.4933884C>TCA397320754CHRNE,GP1BAc.1280C>T (p.Thr427Ile)
c.-888+458G>A (n.-888+458G>A)
c.1272+8C>T (n.1272+8C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933884_4933885delCA624856152CHRNE,GP1BAc.1280_1281del (p.Thr427IlefsTer?)
c.-888+457_-888+458del (n.-888+457_-888+458del)
c.1272+8_1272+9del (n.1272+8_1272+9del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933885delCA2635579180CHRNE,GP1BAc.1281del (p.Ser428GlnfsTer?)
c.-888+458del (n.-888+458del)
c.1272+9del (n.1272+9del)
 gnomAD v4
17g.4933884_4933887delCA2741513962CHRNE,GP1BAc.1280_1283del (p.Thr427LysfsTer?)
c.-888+455_-888+458del (n.-888+455_-888+458del)
c.1272+8_1272+11del (n.1272+8_1272+11del)
17g.4933885_4933887delCA2808297206CHRNE,GP1BAc.1281_1283del (p.Ser428del)
c.-888+456_-888+458del (n.-888+456_-888+458del)
c.1272+9_1272+11del (n.1272+9_1272+11del)
17g.4933886_4933897delCA624856151CHRNE,GP1BAc.1282_1293del (p.Ser428_Ala431del)
c.-888+447_-888+458del (n.-888+447_-888+458del)
c.1272+10_1272+21del (n.1272+10_1272+21del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933886_4933898delCA397320752CHRNE,GP1BAc.1282_1294del (p.Ser428ProfsTer?)
c.-888+446_-888+458del (n.-888+446_-888+458del)
c.1272+10_1272+22del (n.1272+10_1272+22del)
 dbSNP gnomAD v4
17g.4933886_4933959delCA8314956CHRNE,GP1BAc.1282_1355del (p.Ser428HisfsTer?)
c.-888+385_-888+458del (n.-888+385_-888+458del)
c.1272+10_1277del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933885C>ACA497678021CHRNE,GP1BAc.1281C>A (p.Thr427=)
c.-888+457G>T (n.-888+457G>T)
c.1272+9C>A (n.1272+9C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933885C=CA2244625810CHRNE,GP1BAc.1281C= (p.Thr427=)
c.-888+457G= (n.-888+457G=)
c.1272+9C= (n.1272+9C=)
17g.4933885C>GCA497678024CHRNE,GP1BAc.1281C>G (p.Thr427=)
c.-888+457G>C (n.-888+457G>C)
c.1272+9C>G (n.1272+9C>G)
17g.4933885C>TCA497678026CHRNE,GP1BAc.1281C>T (p.Thr427=)
c.-888+457G>A (n.-888+457G>A)
c.1272+9C>T (n.1272+9C>T)
17g.4933885_4933891delinsCTCAGAGCA2244625811CHRNE,GP1BAc.1281_1287delinsCTCAGAG (p.Thr427=)
c.-888+451_-888+457delinsCTCTGAG (n.-888+451_-888+457delinsCTCTGAG)
c.1272+9_1272+15delinsCTCAGAG (n.1272+9_1272+15delinsCTCAGAG)
17g.4933886_4933892delCA2635579183CHRNE,GP1BAc.1282_1288del (p.Ser428ProfsTer?)
c.-888+451_-888+457del (n.-888+451_-888+457del)
c.1272+10_1272+16del (n.1272+10_1272+16del)
 gnomAD v4
17g.4933886T>ACA397320758CHRNE,GP1BAc.1282T>A (p.Ser428Thr)
c.-888+456A>T (n.-888+456A>T)
c.1272+10T>A (n.1272+10T>A)
 dbSNP gnomAD v4
17g.4933886T>CCA287217269CHRNE,GP1BAc.1282T>C (p.Ser428Pro)
c.-888+456A>G (n.-888+456A>G)
c.1272+10T>C (n.1272+10T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933886T>GCA397320759CHRNE,GP1BAc.1282T>G (p.Ser428Ala)
c.-888+456A>C (n.-888+456A>C)
c.1272+10T>G (n.1272+10T>G)
 gnomAD v4
17g.4933886T=CA2244625817CHRNE,GP1BAc.1282T= (p.Ser428=)
c.-888+456A= (n.-888+456A=)
c.1272+10T= (n.1272+10T=)
17g.4933886_4933891delCA497678027CHRNE,GP1BAc.1282_1287del (p.Ser428_Glu429del)
c.-888+451_-888+456del (n.-888+451_-888+456del)
c.1272+10_1272+15del (n.1272+10_1272+15del)
 dbSNP gnomAD v4
17g.4933886_4933895delCA2635579184CHRNE,GP1BAc.1282_1291del (p.Ser428ProfsTer?)
c.-888+447_-888+456del (n.-888+447_-888+456del)
c.1272+10_1272+19del (n.1272+10_1272+19del)
 gnomAD v4
17g.4933886_4933905delinsTCAGAGCCCGCCCCCAGCCCCA2244625816CHRNE,GP1BAc.1282_1301delinsTCAGAGCCCGCCCCCAGCCC (p.Ser428=)
c.-888+437_-888+456delinsGGGCTGGGGGCGGGCTCTGA (n.-888+437_-888+456delinsGGGCTGGGGGCGGGCTCTGA)
c.1272+10_1272+29delinsTCAGAGCCCGCCCCCAGCCC (n.1272+10_1272+29delinsTCAGAGCCCGCCCCCAGCCC)
17g.4933886_4933907delCA2635579185CHRNE,GP1BAc.1282_1303del (p.Ser428ProfsTer?)
c.-888+435_-888+456del (n.-888+435_-888+456del)
c.1272+10_1272+31del (n.1272+10_1272+31del)
 dbSNP gnomAD v4
17g.4933886_4933921delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCCA2244625813CHRNE,GP1BAc.1282_1317delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC (p.Ser428=)
c.-888+421_-888+456delinsGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+421_-888+456delinsGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1272+10_1273-34delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC (n.1272+10_1273-34delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC)
17g.4933886_4933944delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCCA2244625815CHRNE,GP1BAc.1282_1340delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCC (p.Ser428=)
c.-888+398_-888+456delinsGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+398_-888+456delinsGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1272+10_1273-11delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCC (n.1272+10_1273-11delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCC)
17g.4933886_4933948delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCCA2244625814CHRNE,GP1BAc.1282_1344delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (p.Ser428=)
c.-888+394_-888+456delinsGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+394_-888+456delinsGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1272+10_1273-7delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (n.1272+10_1273-7delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC)
17g.4933886_4933960delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCCA2244625812CHRNE,GP1BAc.1282_1356delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC (p.Ser428=)
c.-888+382_-888+456delinsGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+382_-888+456delinsGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1272+10_1278delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCC
17g.4933887C>ACA397320762CHRNE,GP1BAc.1283C>A (p.Ser428Ter)
c.-888+455G>T (n.-888+455G>T)
c.1272+11C>A (n.1272+11C>A)
 gnomAD v4
17g.4933887C=CA2244625818CHRNE,GP1BAc.1283C= (p.Ser428=)
c.-888+455G= (n.-888+455G=)
c.1272+11C= (n.1272+11C=)
17g.4933887C>GCA397320766CHRNE,GP1BAc.1283C>G (p.Ser428Ter)
c.-888+455G>C (n.-888+455G>C)
c.1272+11C>G (n.1272+11C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.4933887C>TCA397320765CHRNE,GP1BAc.1283C>T (p.Ser428Leu)
c.-888+455G>A (n.-888+455G>A)
c.1272+11C>T (n.1272+11C>T)
17g.4933887_4933888delinsCACA2244625819CHRNE,GP1BAc.1283_1284delinsCA (p.Ser428=)
c.-888+454_-888+455delinsTG (n.-888+454_-888+455delinsTG)
c.1272+11_1272+12delinsCA (n.1272+11_1272+12delinsCA)
17g.4933888_4933893delCA397320764CHRNE,GP1BAc.1284_1289del (p.Glu429_Pro430del)
c.-888+450_-888+455del (n.-888+450_-888+455del)
c.1272+12_1272+17del (n.1272+12_1272+17del)
17g.4933888_4933894delCA2635579187CHRNE,GP1BAc.1284_1290del (p.Glu429ProfsTer?)
c.-888+449_-888+455del (n.-888+449_-888+455del)
c.1272+12_1272+18del (n.1272+12_1272+18del)
 gnomAD v4
17g.4933887_4933905delCA624856154CHRNE,GP1BAc.1283_1301del (p.Ser428Ter)
c.-888+437_-888+455del (n.-888+437_-888+455del)
c.1272+11_1272+29del (n.1272+11_1272+29del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933887_4933915delCA2808297207CHRNE,GP1BAc.1283_1311del (p.Ser428Ter)
c.-888+427_-888+455del (n.-888+427_-888+455del)
c.1272+11_1273-40del (n.1272+11_1273-40del)
17g.4933887_4933921delCA8314958CHRNE,GP1BAc.1283_1317del (p.Ser428TyrfsTer?)
c.-888+421_-888+455del (n.-888+421_-888+455del)
c.1272+11_1273-34del (n.1272+11_1273-34del)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.4933888_4933924delCA2635579188CHRNE,GP1BAc.1284_1320del (p.Glu429GlnfsTer?)
c.-888+419_-888+455del (n.-888+419_-888+455del)
c.1272+12_1273-31del (n.1272+12_1273-31del)
 gnomAD v4
17g.4933887_4933927delCA2635579190CHRNE,GP1BAc.1283_1323del (p.Ser428Ter)
c.-888+415_-888+455del (n.-888+415_-888+455del)
c.1272+11_1273-28del (n.1272+11_1273-28del)
 gnomAD v4
17g.4933887_4933933delCA8314959CHRNE,GP1BAc.1283_1329del (p.Ser428CysfsTer?)
c.-888+409_-888+455del (n.-888+409_-888+455del)
c.1272+11_1273-22del (n.1272+11_1273-22del)
 ExAC gnomAD v4
17g.4933887_4933944delCA624856153CHRNE,GP1BAc.1283_1340del (p.Ser428Ter)
c.-888+398_-888+455del (n.-888+398_-888+455del)
c.1272+11_1273-11del (n.1272+11_1273-11del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933887_4933945delCA2635579191CHRNE,GP1BAc.1283_1341del (p.Ser428TyrfsTer?)
c.-888+397_-888+455del (n.-888+397_-888+455del)
c.1272+11_1273-10del (n.1272+11_1273-10del)
 gnomAD v4
17g.4933887_4933948delCA8314957CHRNE,GP1BAc.1283_1344del (p.Ser428TyrfsTer?)
c.-888+394_-888+455del (n.-888+394_-888+455del)
c.1272+11_1273-7del (n.1272+11_1273-7del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933887_4933953delCA624856155CHRNE,GP1BAc.1283_1349del (p.Ser428TrpfsTer22)
c.-888+389_-888+455del (n.-888+389_-888+455del)
c.1272+11_1273-2del (n.1272+11_1273-2del)
 gnomAD v2 gnomAD v3 gnomAD v4
17g.4933887_4933960delCA980972037CHRNE,GP1BAc.1283_1356del (p.Ser428TyrfsTer?)
c.-888+382_-888+455del (n.-888+382_-888+455del)
c.1272+11_1278del
 dbSNP gnomAD v3 gnomAD v4
17g.4933888delCA8314960CHRNE,GP1BAc.1284del (p.Glu429SerfsTer?)
c.-888+454del (n.-888+454del)
c.1272+12del (n.1272+12del)
 dbSNP ExAC
17g.4933888A>CCA497678034CHRNE,GP1BAc.1284A>C (p.Ser428=)
c.-888+454T>G (n.-888+454T>G)
c.1272+12A>C (n.1272+12A>C)
17g.4933888A>GCA497678035CHRNE,GP1BAc.1284A>G (p.Ser428=)
c.-888+454T>C (n.-888+454T>C)
c.1272+12A>G (n.1272+12A>G)
 gnomAD v4
17g.4933888A>TCA497678036CHRNE,GP1BAc.1284A>T (p.Ser428=)
c.-888+454T>A (n.-888+454T>A)
c.1272+12A>T (n.1272+12A>T)
17g.4933888_4933889delinsAGCA2244625820CHRNE,GP1BAc.1284_1285delinsAG (p.Ser428=)
c.-888+453_-888+454delinsCT (n.-888+453_-888+454delinsCT)
c.1272+12_1272+13delinsAG (n.1272+12_1272+13delinsAG)
17g.4933889delCA497678038CHRNE,GP1BAc.1285del (p.Glu429SerfsTer?)
c.-888+453del (n.-888+453del)
c.1272+13del (n.1272+13del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933889G>ACA397320771CHRNE,GP1BAc.1285G>A (p.Glu429Lys)
c.-888+453C>T (n.-888+453C>T)
c.1272+13G>A (n.1272+13G>A)
 gnomAD v4
17g.4933889G>CCA397320772CHRNE,GP1BAc.1285G>C (p.Glu429Gln)
c.-888+453C>G (n.-888+453C>G)
c.1272+13G>C (n.1272+13G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933889G=CA2244625821CHRNE,GP1BAc.1285G= (p.Glu429=)
c.-888+453C= (n.-888+453C=)
c.1272+13G= (n.1272+13G=)
17g.4933889G>TCA397320769CHRNE,GP1BAc.1285G>T (p.Glu429Ter)
c.-888+453C>A (n.-888+453C>A)
c.1272+13G>T (n.1272+13G>T)
17g.4933889_4933891delCA980972052CHRNE,GP1BAc.1285_1287del (p.Glu429del)
c.-888+451_-888+453del (n.-888+451_-888+453del)
c.1272+13_1272+15del (n.1272+13_1272+15del)
 gnomAD v3 gnomAD v4
17g.4933889_4933927delinsGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCACA2244625822CHRNE,GP1BAc.1285_1323delinsGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCA (p.Glu429=)
c.-888+415_-888+453delinsTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTC (n.-888+415_-888+453delinsTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTC)
c.1272+13_1273-28delinsGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCA (n.1272+13_1273-28delinsGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCA)
17g.4933890delCA397320776CHRNE,GP1BAc.1286del (p.Glu429GlyfsTer?)
c.-888+452del (n.-888+452del)
c.1272+14del (n.1272+14del)
17g.4933890A=CA2244625823CHRNE,GP1BAc.1286A= (p.Glu429=)
c.-888+452T= (n.-888+452T=)
c.1272+14A= (n.1272+14A=)
17g.4933890A>CCA397320778CHRNE,GP1BAc.1286A>C (p.Glu429Ala)
c.-888+452T>G (n.-888+452T>G)
c.1272+14A>C (n.1272+14A>C)
17g.4933890A>GCA397320775CHRNE,GP1BAc.1286A>G (p.Glu429Gly)
c.-888+452T>C (n.-888+452T>C)
c.1272+14A>G (n.1272+14A>G)
 dbSNP
17g.4933890A>TCA397320777CHRNE,GP1BAc.1286A>T (p.Glu429Val)
c.-888+452T>A (n.-888+452T>A)
c.1272+14A>T (n.1272+14A>T)
 gnomAD v4
17g.4933890_4933894delCA2635579192CHRNE,GP1BAc.1286_1290del (p.Glu429GlyfsTer?)
c.-888+448_-888+452del (n.-888+448_-888+452del)
c.1272+14_1272+18del (n.1272+14_1272+18del)
 gnomAD v4
17g.4933896_4933906delCA2635579193CHRNE,GP1BAc.1292_1302del (p.Ala431AspfsTer?)
c.-888+442_-888+452del (n.-888+442_-888+452del)
c.1272+20_1272+30del (n.1272+20_1272+30del)
 gnomAD v4
17g.4933890_4933927delCA8314961CHRNE,GP1BAc.1286_1323del (p.Glu429GlyfsTer?)
c.-888+415_-888+452del (n.-888+415_-888+452del)
c.1272+14_1273-28del (n.1272+14_1273-28del)
 dbSNP ExAC
17g.4933896_4933945delCA2580617663CHRNE,GP1BAc.1292_1341del (p.Ala431AspfsTer?)
c.-888+403_-888+452del (n.-888+403_-888+452del)
c.1272+20_1273-10del (n.1272+20_1273-10del)
 ClinVar
17g.4933891G>ACA497678041CHRNE,GP1BAc.1287G>A (p.Glu429=)
c.-888+451C>T (n.-888+451C>T)
c.1272+15G>A (n.1272+15G>A)
 gnomAD v4
17g.4933891G>CCA397320783CHRNE,GP1BAc.1287G>C (p.Glu429Asp)
c.-888+451C>G (n.-888+451C>G)
c.1272+15G>C (n.1272+15G>C)
 gnomAD v4
17g.4933891G=CA2244625826CHRNE,GP1BAc.1287G= (p.Glu429=)
c.-888+451C= (n.-888+451C=)
c.1272+15G= (n.1272+15G=)
17g.4933891G>TCA397320781CHRNE,GP1BAc.1287G>T (p.Glu429Asp)
c.-888+451C>A (n.-888+451C>A)
c.1272+15G>T (n.1272+15G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933891_4933897delinsGCCCGCCCA2244625825CHRNE,GP1BAc.1287_1293delinsGCCCGCC (p.Glu429=)
c.-888+445_-888+451delinsGGCGGGC (n.-888+445_-888+451delinsGGCGGGC)
c.1272+15_1272+21delinsGCCCGCC (n.1272+15_1272+21delinsGCCCGCC)
17g.4933891_4933923delinsGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCA2244625824CHRNE,GP1BAc.1287_1319delinsGCCCGCCCCCAGCCCGACCACCCCAGAGCCCAC (p.Glu429=)
c.-888+419_-888+451delinsGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGC (n.-888+419_-888+451delinsGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGC)
c.1272+15_1273-32delinsGCCCGCCCCCAGCCCGACCACCCCAGAGCCCAC (n.1272+15_1273-32delinsGCCCGCCCCCAGCCCGACCACCCCAGAGCCCAC)
17g.4933892C>ACA397320788CHRNE,GP1BAc.1288C>A (p.Pro430Thr)
c.-888+450G>T (n.-888+450G>T)
c.1272+16C>A (n.1272+16C>A)
 gnomAD v4
17g.4933892C>GCA397320784CHRNE,GP1BAc.1288C>G (p.Pro430Ala)
c.-888+450G>C (n.-888+450G>C)
c.1272+16C>G (n.1272+16C>G)
17g.4933892C>TCA397320786CHRNE,GP1BAc.1288C>T (p.Pro430Ser)
c.-888+450G>A (n.-888+450G>A)
c.1272+16C>T (n.1272+16C>T)
 gnomAD v4
17g.4933895_4933900delCA624856156CHRNE,GP1BAc.1291_1296del (p.Ala431_Pro432del)
c.-888+445_-888+450del (n.-888+445_-888+450del)
c.1272+19_1272+24del (n.1272+19_1272+24del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933894_4933900delCA2635579194CHRNE,GP1BAc.1290_1296del (p.Pro432ArgfsTer?)
c.-888+444_-888+450del (n.-888+444_-888+450del)
c.1272+18_1272+24del (n.1272+18_1272+24del)
 gnomAD v4
17g.4933892_4933924delCA2528828866CHRNE,GP1BAc.1288_1320del (p.Pro430_Thr440del)
c.-888+418_-888+450del (n.-888+418_-888+450del)
c.1272+16_1273-31del (n.1272+16_1273-31del)
17g.4933894_4933924delCA8314962CHRNE,GP1BAc.1290_1320del (p.Ala431GlnfsTer?)
c.-888+420_-888+450del (n.-888+420_-888+450del)
c.1272+18_1273-31del (n.1272+18_1273-31del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933893_4933924delCA980972058CHRNE,GP1BAc.1289_1320del (p.Pro430LeufsTer?)
c.-888+419_-888+450del (n.-888+419_-888+450del)
c.1272+17_1273-31del (n.1272+17_1273-31del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933893C>ACA397320790CHRNE,GP1BAc.1289C>A (p.Pro430His)
c.-888+449G>T (n.-888+449G>T)
c.1272+17C>A (n.1272+17C>A)
17g.4933893C>GCA397320792CHRNE,GP1BAc.1289C>G (p.Pro430Arg)
c.-888+449G>C (n.-888+449G>C)
c.1272+17C>G (n.1272+17C>G)
17g.4933893C>TCA397320791CHRNE,GP1BAc.1289C>T (p.Pro430Leu)
c.-888+449G>A (n.-888+449G>A)
c.1272+17C>T (n.1272+17C>T)
17g.4933893_4933928delCA980972066CHRNE,GP1BAc.1289_1324del (p.Pro430_Glu442delinsGln)
c.-888+414_-888+449del (n.-888+414_-888+449del)
c.1272+17_1273-27del (n.1272+17_1273-27del)
 gnomAD v3 gnomAD v4
17g.4933893_4933894insGACCAACA2808297208CHRNE,GP1BAc.1289_1290insGACCAA (p.Pro430_Ala431insThrAsn)
c.-888+448_-888+449insTTGGTC (n.-888+448_-888+449insTTGGTC)
c.1272+17_1272+18insGACCAA (n.1272+17_1272+18insGACCAA)
17g.4933894C>ACA497678050CHRNE,GP1BAc.1290C>A (p.Pro430=)
c.-888+448G>T (n.-888+448G>T)
c.1272+18C>A (n.1272+18C>A)
 gnomAD v4
17g.4933894C=CA2244625827CHRNE,GP1BAc.1290C= (p.Pro430=)
c.-888+448G= (n.-888+448G=)
c.1272+18C= (n.1272+18C=)
17g.4933894C>GCA497678049CHRNE,GP1BAc.1290C>G (p.Pro430=)
c.-888+448G>C (n.-888+448G>C)
c.1272+18C>G (n.1272+18C>G)
17g.4933894C>TCA497678047CHRNE,GP1BAc.1290C>T (p.Pro430=)
c.-888+448G>A (n.-888+448G>A)
c.1272+18C>T (n.1272+18C>T)
 ClinVar dbSNP
17g.4933895delCA2635579196CHRNE,GP1BAc.1291del (p.Ala431ProfsTer?)
c.-888+447del (n.-888+447del)
c.1272+19del (n.1272+19del)
 gnomAD v4
17g.4933895G>ACA397320794CHRNE,GP1BAc.1291G>A (p.Ala431Thr)
c.-888+447C>T (n.-888+447C>T)
c.1272+19G>A (n.1272+19G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933895G>CCA397320797CHRNE,GP1BAc.1291G>C (p.Ala431Pro)
c.-888+447C>G (n.-888+447C>G)
c.1272+19G>C (n.1272+19G>C)
 dbSNP gnomAD v4 COSMIC
17g.4933895G=CA2244625829CHRNE,GP1BAc.1291G= (p.Ala431=)
c.-888+447C= (n.-888+447C=)
c.1272+19G= (n.1272+19G=)
17g.4933895G>TCA397320796CHRNE,GP1BAc.1291G>T (p.Ala431Ser)
c.-888+447C>A (n.-888+447C>A)
c.1272+19G>T (n.1272+19G>T)
 gnomAD v4
17g.4933895_4933924delinsGCCCCCAGCCCGACCACCCCAGAGCCCACCCA2244625828CHRNE,GP1BAc.1291_1320delinsGCCCCCAGCCCGACCACCCCAGAGCCCACC (p.Ala431=)
c.-888+418_-888+447delinsGGTGGGCTCTGGGGTGGTCGGGCTGGGGGC (n.-888+418_-888+447delinsGGTGGGCTCTGGGGTGGTCGGGCTGGGGGC)
c.1272+19_1273-31delinsGCCCCCAGCCCGACCACCCCAGAGCCCACC (n.1272+19_1273-31delinsGCCCCCAGCCCGACCACCCCAGAGCCCACC)
17g.4933895_4933966delCA2635579195CHRNE,GP1BAc.1291_1362del (p.Ala431_Pro454del)
c.-888+376_-888+447del (n.-888+376_-888+447del)
c.1272+19_1284del
 gnomAD v4
17g.4933896C>ACA397320799CHRNE,GP1BAc.1292C>A (p.Ala431Asp)
c.-888+446G>T (n.-888+446G>T)
c.1272+20C>A (n.1272+20C>A)
17g.4933896C>GCA397320803CHRNE,GP1BAc.1292C>G (p.Ala431Gly)
c.-888+446G>C (n.-888+446G>C)
c.1272+20C>G (n.1272+20C>G)
17g.4933896C>TCA397320802CHRNE,GP1BAc.1292C>T (p.Ala431Val)
c.-888+446G>A (n.-888+446G>A)
c.1272+20C>T (n.1272+20C>T)
 gnomAD v4
17g.4933900dupCA772702957CHRNE,GP1BAc.1296dup (p.Ser433GlnfsTer?)
c.-888+446dup (n.-888+446dup)
c.1272+24dup (n.1272+24dup)
 dbSNP
17g.4933900delCA2576136027CHRNE,GP1BAc.1296del (p.Ser433AlafsTer?)
c.-888+446del (n.-888+446del)
c.1272+24del (n.1272+24del)
 gnomAD v4
17g.4933896_4933915delCA2635579197CHRNE,GP1BAc.1292_1311del (p.Ala431GlyfsTer?)
c.-888+427_-888+446del (n.-888+427_-888+446del)
c.1272+20_1273-40del (n.1272+20_1273-40del)
 gnomAD v4
17g.4933896_4933922delinsCCCCCAGCCCGACCACCCCAGAGCCCACA2244625830CHRNE,GP1BAc.1292_1318delinsCCCCCAGCCCGACCACCCCAGAGCCCA (p.Ala431=)
c.-888+420_-888+446delinsTGGGCTCTGGGGTGGTCGGGCTGGGGG (n.-888+420_-888+446delinsTGGGCTCTGGGGTGGTCGGGCTGGGGG)
c.1272+20_1273-33delinsCCCCCAGCCCGACCACCCCAGAGCCCA (n.1272+20_1273-33delinsCCCCCAGCCCGACCACCCCAGAGCCCA)
17g.4933896_4933924delCA8314963CHRNE,GP1BAc.1292_1320del (p.Ala431ValfsTer?)
c.-888+418_-888+446del (n.-888+418_-888+446del)
c.1272+20_1273-31del (n.1272+20_1273-31del)
 dbSNP ExAC
17g.4933896_4933934delinsCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCA2244625831CHRNE,GP1BAc.1292_1330delinsCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Ala431=)
c.-888+408_-888+446delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGG (n.-888+408_-888+446delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGG)
c.1272+20_1273-21delinsCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (n.1272+20_1273-21delinsCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG)
17g.4933896_4933966delCA2635579198CHRNE,GP1BAc.1292_1362del (p.Ala431AspfsTer?)
c.-888+376_-888+446del (n.-888+376_-888+446del)
c.1272+20_1284del
 gnomAD v4
17g.4933897C>ACA497678055CHRNE,GP1BAc.1293C>A (p.Ala431=)
c.-888+445G>T (n.-888+445G>T)
c.1272+21C>A (n.1272+21C>A)
17g.4933897C=CA2244625832CHRNE,GP1BAc.1293C= (p.Ala431=)
c.-888+445G= (n.-888+445G=)
c.1272+21C= (n.1272+21C=)
17g.4933897C>GCA497678057CHRNE,GP1BAc.1293C>G (p.Ala431=)
c.-888+445G>C (n.-888+445G>C)
c.1272+21C>G (n.1272+21C>G)
17g.4933897C>TCA497678058CHRNE,GP1BAc.1293C>T (p.Ala431=)
c.-888+445G>A (n.-888+445G>A)
c.1272+21C>T (n.1272+21C>T)
 dbSNP COSMIC
17g.4933897_4933901delinsCCCCACA2244625833CHRNE,GP1BAc.1293_1297delinsCCCCA (p.Ala431=)
c.-888+441_-888+445delinsTGGGG (n.-888+441_-888+445delinsTGGGG)
c.1272+21_1272+25delinsCCCCA (n.1272+21_1272+25delinsCCCCA)
17g.4933899_4933924delCA624856158CHRNE,GP1BAc.1295_1320del (p.Pro432LeufsTer?)
c.-888+420_-888+445del (n.-888+420_-888+445del)
c.1272+23_1273-31del (n.1272+23_1273-31del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933901_4933938delCA624856157CHRNE,GP1BAc.1297_1334del (p.Ser433GlnfsTer?)
c.-888+408_-888+445del (n.-888+408_-888+445del)
c.1272+25_1273-17del (n.1272+25_1273-17del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933898C>ACA397320805CHRNE,GP1BAc.1294C>A (p.Pro432Thr)
c.-888+444G>T (n.-888+444G>T)
c.1272+22C>A (n.1272+22C>A)
 gnomAD v4
17g.4933898C>GCA397320806CHRNE,GP1BAc.1294C>G (p.Pro432Ala)
c.-888+444G>C (n.-888+444G>C)
c.1272+22C>G (n.1272+22C>G)
17g.4933898C>TCA397320807CHRNE,GP1BAc.1294C>T (p.Pro432Ser)
c.-888+444G>A (n.-888+444G>A)
c.1272+22C>T (n.1272+22C>T)
17g.4933898_4933901delCA8314964CHRNE,GP1BAc.1294_1297del (p.Pro432AlafsTer?)
c.-888+441_-888+444del (n.-888+441_-888+444del)
c.1272+22_1272+25del (n.1272+22_1272+25del)
 dbSNP ExAC
17g.4933900_4933909delCA2635579199CHRNE,GP1BAc.1296_1305del (p.Ser433ProfsTer?)
c.-888+435_-888+444del (n.-888+435_-888+444del)
c.1272+24_1272+33del (n.1272+24_1272+33del)
 gnomAD v4
17g.4933899C>ACA397320808CHRNE,GP1BAc.1295C>A (p.Pro432His)
c.-888+443G>T (n.-888+443G>T)
c.1272+23C>A (n.1272+23C>A)
17g.4933899C=CA2244625834CHRNE,GP1BAc.1295C= (p.Pro432=)
c.-888+443G= (n.-888+443G=)
c.1272+23C= (n.1272+23C=)
17g.4933899C>GCA397320811CHRNE,GP1BAc.1295C>G (p.Pro432Arg)
c.-888+443G>C (n.-888+443G>C)
c.1272+23C>G (n.1272+23C>G)
17g.4933899C>TCA397320810CHRNE,GP1BAc.1295C>T (p.Pro432Leu)
c.-888+443G>A (n.-888+443G>A)
c.1272+23C>T (n.1272+23C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933900C>ACA287217310CHRNE,GP1BAc.1296C>A (p.Pro432=)
c.-888+442G>T (n.-888+442G>T)
c.1272+24C>A (n.1272+24C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933900C=CA2244625835CHRNE,GP1BAc.1296C= (p.Pro432=)
c.-888+442G= (n.-888+442G=)
c.1272+24C= (n.1272+24C=)
17g.4933900C>GCA497678067CHRNE,GP1BAc.1296C>G (p.Pro432=)
c.-888+442G>C (n.-888+442G>C)
c.1272+24C>G (n.1272+24C>G)
 gnomAD v4
17g.4933900C>TCA497678068CHRNE,GP1BAc.1296C>T (p.Pro432=)
c.-888+442G>A (n.-888+442G>A)
c.1272+24C>T (n.1272+24C>T)
17g.4933900_4933901delCA2635579201CHRNE,GP1BAc.1296_1297del (p.Ser433ProfsTer?)
c.-888+441_-888+442del (n.-888+441_-888+442del)
c.1272+24_1272+25del (n.1272+24_1272+25del)
 gnomAD v4
17g.4933900_4933902delinsCAGCA2244625836CHRNE,GP1BAc.1296_1298delinsCAG (p.Pro432=)
c.-888+440_-888+442delinsCTG (n.-888+440_-888+442delinsCTG)
c.1272+24_1272+26delinsCAG (n.1272+24_1272+26delinsCAG)
17g.4933900_4933906delCA2635579202CHRNE,GP1BAc.1296_1302del (p.Ser433ProfsTer?)
c.-888+436_-888+442del (n.-888+436_-888+442del)
c.1272+24_1272+30del (n.1272+24_1272+30del)
 gnomAD v4
17g.4933901delCA2635579206CHRNE,GP1BAc.1297del (p.Ser433AlafsTer?)
c.-888+441del (n.-888+441del)
c.1272+25del (n.1272+25del)
 gnomAD v4
17g.4933901A=CA2244625838CHRNE,GP1BAc.1297A= (p.Ser433=)
c.-888+441T= (n.-888+441T=)
c.1272+25A= (n.1272+25A=)
17g.4933901A>CCA397320817CHRNE,GP1BAc.1297A>C (p.Ser433Arg)
c.-888+441T>G (n.-888+441T>G)
c.1272+25A>C (n.1272+25A>C)
 dbSNP gnomAD v4
17g.4933901A>GCA397320818CHRNE,GP1BAc.1297A>G (p.Ser433Gly)
c.-888+441T>C (n.-888+441T>C)
c.1272+25A>G (n.1272+25A>G)
17g.4933901A>TCA397320815CHRNE,GP1BAc.1297A>T (p.Ser433Cys)
c.-888+441T>A (n.-888+441T>A)
c.1272+25A>T (n.1272+25A>T)
17g.4933901dupCA2576136028CHRNE,GP1BAc.1297dup (p.Ser433LysfsTer?)
c.-888+441dup (n.-888+441dup)
c.1272+25dup (n.1272+25dup)
17g.4933901_4933902delCA8314965CHRNE,GP1BAc.1297_1298del (p.Ser433ProfsTer?)
c.-888+440_-888+441del (n.-888+440_-888+441del)
c.1272+25_1272+26del (n.1272+25_1272+26del)
 dbSNP ExAC gnomAD v4
17g.4933901_4933907delCA2635579203CHRNE,GP1BAc.1297_1303del (p.Ser433ProfsTer?)
c.-888+435_-888+441del (n.-888+435_-888+441del)
c.1272+25_1272+31del (n.1272+25_1272+31del)
 gnomAD v4
17g.4933902_4933907delCA2635579205CHRNE,GP1BAc.1298_1303del (p.Ser433_Pro434del)
c.-888+436_-888+441del (n.-888+436_-888+441del)
c.1272+26_1272+31del (n.1272+26_1272+31del)
 gnomAD v4
17g.4933901_4933910delCA2635579204CHRNE,GP1BAc.1297_1306del (p.Ser433ProfsTer?)
c.-888+432_-888+441del (n.-888+432_-888+441del)
c.1272+25_1272+34del (n.1272+25_1272+34del)
 gnomAD v4
17g.4933901_4933924delinsAGCCCGACCACCCCAGAGCCCACCCA2244625837CHRNE,GP1BAc.1297_1320delinsAGCCCGACCACCCCAGAGCCCACC (p.Ser433=)
c.-888+418_-888+441delinsGGTGGGCTCTGGGGTGGTCGGGCT (n.-888+418_-888+441delinsGGTGGGCTCTGGGGTGGTCGGGCT)
c.1272+25_1273-31delinsAGCCCGACCACCCCAGAGCCCACC (n.1272+25_1273-31delinsAGCCCGACCACCCCAGAGCCCACC)
17g.4933901_4933934delinsAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCA2244625839CHRNE,GP1BAc.1297_1330delinsAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Ser433=)
c.-888+408_-888+441delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCT (n.-888+408_-888+441delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCT)
c.1272+25_1273-21delinsAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (n.1272+25_1273-21delinsAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG)
17g.4933902G>ACA397320820CHRNE,GP1BAc.1298G>A (p.Ser433Asn)
c.-888+440C>T (n.-888+440C>T)
c.1272+26G>A (n.1272+26G>A)
17g.4933902G>CCA397320822CHRNE,GP1BAc.1298G>C (p.Ser433Thr)
c.-888+440C>G (n.-888+440C>G)
c.1272+26G>C (n.1272+26G>C)
 dbSNP gnomAD v4
17g.4933902G=CA2244625842CHRNE,GP1BAc.1298G= (p.Ser433=)
c.-888+440C= (n.-888+440C=)
c.1272+26G= (n.1272+26G=)
17g.4933902G>TCA397320823CHRNE,GP1BAc.1298G>T (p.Ser433Ile)
c.-888+440C>A (n.-888+440C>A)
c.1272+26G>T (n.1272+26G>T)
 dbSNP gnomAD v4
17g.4933902_4933922delinsGCCCGACCACCCCAGAGCCCACA2244625840CHRNE,GP1BAc.1298_1318delinsGCCCGACCACCCCAGAGCCCA (p.Ser433=)
c.-888+420_-888+440delinsTGGGCTCTGGGGTGGTCGGGC (n.-888+420_-888+440delinsTGGGCTCTGGGGTGGTCGGGC)
c.1272+26_1273-33delinsGCCCGACCACCCCAGAGCCCA (n.1272+26_1273-33delinsGCCCGACCACCCCAGAGCCCA)
17g.4933902_4933924delCA980972078CHRNE,GP1BAc.1298_1320del (p.Ser433IlefsTer?)
c.-888+418_-888+440del (n.-888+418_-888+440del)
c.1272+26_1273-31del (n.1272+26_1273-31del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933902_4933934delCA624856159CHRNE,GP1BAc.1298_1330del (p.Ser433_Ala444delinsThr)
c.-888+408_-888+440del (n.-888+408_-888+440del)
c.1272+26_1273-21del (n.1272+26_1273-21del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933902_4933937delinsGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCA2244625841CHRNE,GP1BAc.1298_1333delinsGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCC (p.Ser433=)
c.-888+405_-888+440delinsGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGC (n.-888+405_-888+440delinsGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGC)
c.1272+26_1273-18delinsGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCC (n.1272+26_1273-18delinsGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCC)
17g.4933906_4933937delCA2635579207CHRNE,GP1BAc.1302_1333del (p.Thr435GlnfsTer?)
c.-888+409_-888+440del (n.-888+409_-888+440del)
c.1272+30_1273-18del (n.1272+30_1273-18del)
 gnomAD v4
17g.4933903C>ACA397320824CHRNE,GP1BAc.1299C>A (p.Ser433Arg)
c.-888+439G>T (n.-888+439G>T)
c.1272+27C>A (n.1272+27C>A)
17g.4933903C>GCA397320825CHRNE,GP1BAc.1299C>G (p.Ser433Arg)
c.-888+439G>C (n.-888+439G>C)
c.1272+27C>G (n.1272+27C>G)
17g.4933903C>TCA497678076CHRNE,GP1BAc.1299C>T (p.Ser433=)
c.-888+439G>A (n.-888+439G>A)
c.1272+27C>T (n.1272+27C>T)
17g.4933903_4933915delCA2635579208CHRNE,GP1BAc.1299_1311del (p.Ser433ArgfsTer?)
c.-888+427_-888+439del (n.-888+427_-888+439del)
c.1272+27_1273-40del (n.1272+27_1273-40del)
 gnomAD v4
17g.4933905_4933924delCA8314966CHRNE,GP1BAc.1301_1320del (p.Pro434LeufsTer?)
c.-888+420_-888+439del (n.-888+420_-888+439del)
c.1272+29_1273-31del (n.1272+29_1273-31del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933903_4933939delCA2635579209CHRNE,GP1BAc.1299_1335del (p.Ser433ArgfsTer27)
c.-888+403_-888+439del (n.-888+403_-888+439del)
c.1272+27_1273-16del (n.1272+27_1273-16del)
 gnomAD v4
17g.4933905_4933939delCA8314967CHRNE,GP1BAc.1301_1335del (p.Pro434GlnfsTer?)
c.-888+405_-888+439del (n.-888+405_-888+439del)
c.1272+29_1273-16del (n.1272+29_1273-16del)
 dbSNP ExAC
17g.4933903_4933940delinsCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCACA2244625843CHRNE,GP1BAc.1299_1336delinsCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCA (p.Ser433=)
c.-888+402_-888+439delinsTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGG (n.-888+402_-888+439delinsTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGG)
c.1272+27_1273-15delinsCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCA (n.1272+27_1273-15delinsCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCA)
17g.4933911_4933976delCA2635579210CHRNE,GP1BAc.1307_1372del (p.Thr436_Thr457del)
c.-888+374_-888+439del (n.-888+374_-888+439del)
c.1272+35_1294del
 gnomAD v4
17g.4933904C>ACA397320828CHRNE,GP1BAc.1300C>A (p.Pro434Thr)
c.-888+438G>T (n.-888+438G>T)
c.1272+28C>A (n.1272+28C>A)
17g.4933904C>GCA397320830CHRNE,GP1BAc.1300C>G (p.Pro434Ala)
c.-888+438G>C (n.-888+438G>C)
c.1272+28C>G (n.1272+28C>G)
17g.4933904C>TCA397320831CHRNE,GP1BAc.1300C>T (p.Pro434Ser)
c.-888+438G>A (n.-888+438G>A)
c.1272+28C>T (n.1272+28C>T)
17g.4933906_4933924delCA2635579211CHRNE,GP1BAc.1302_1320del (p.Thr435GlnfsTer?)
c.-888+420_-888+438del (n.-888+420_-888+438del)
c.1272+30_1273-31del (n.1272+30_1273-31del)
 gnomAD v4
17g.4933904_4933940delCA8314968CHRNE,GP1BAc.1300_1336del (p.Pro434AlafsTer26)
c.-888+402_-888+438del (n.-888+402_-888+438del)
c.1272+28_1273-15del (n.1272+28_1273-15del)
 dbSNP ExAC
17g.4933905C>ACA397320834CHRNE,GP1BAc.1301C>A (p.Pro434Gln)
c.-888+437G>T (n.-888+437G>T)
c.1272+29C>A (n.1272+29C>A)
17g.4933905C=CA2244625845CHRNE,GP1BAc.1301C= (p.Pro434=)
c.-888+437G= (n.-888+437G=)
c.1272+29C= (n.1272+29C=)
17g.4933905C>GCA397320835CHRNE,GP1BAc.1301C>G (p.Pro434Arg)
c.-888+437G>C (n.-888+437G>C)
c.1272+29C>G (n.1272+29C>G)
17g.4933905C>TCA287217336CHRNE,GP1BAc.1301C>T (p.Pro434Leu)
c.-888+437G>A (n.-888+437G>A)
c.1272+29C>T (n.1272+29C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933905_4933906delinsCGCA2244625844CHRNE,GP1BAc.1301_1302delinsCG (p.Pro434=)
c.-888+436_-888+437delinsCG (n.-888+436_-888+437delinsCG)
c.1272+29_1272+30delinsCG (n.1272+29_1272+30delinsCG)
17g.4933906_4933908delCA2576136029CHRNE,GP1BAc.1302_1304del (p.Thr435del)
c.-888+435_-888+437del (n.-888+435_-888+437del)
c.1272+30_1272+32del (n.1272+30_1272+32del)
17g.4933906delCA980972094CHRNE,GP1BAc.1302del (p.Thr435ProfsTer?)
c.-888+436del (n.-888+436del)
c.1272+30del (n.1272+30del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933906G>ACA497678083CHRNE,GP1BAc.1302G>A (p.Pro434=)
c.-888+436C>T (n.-888+436C>T)
c.1272+30G>A (n.1272+30G>A)
 dbSNP gnomAD v4
17g.4933906G>CCA497678087CHRNE,GP1BAc.1302G>C (p.Pro434=)
c.-888+436C>G (n.-888+436C>G)
c.1272+30G>C (n.1272+30G>C)
 gnomAD v4
17g.4933906G=CA2244625846CHRNE,GP1BAc.1302G= (p.Pro434=)
c.-888+436C= (n.-888+436C=)
c.1272+30G= (n.1272+30G=)
17g.4933906G>TCA497678088CHRNE,GP1BAc.1302G>T (p.Pro434=)
c.-888+436C>A (n.-888+436C>A)
c.1272+30G>T (n.1272+30G>T)
 dbSNP gnomAD v4
17g.4933906_4933907delCA2635579212CHRNE,GP1BAc.1302_1303del (p.Thr435HisfsTer?)
c.-888+435_-888+436del (n.-888+435_-888+436del)
c.1272+30_1272+31del (n.1272+30_1272+31del)
 gnomAD v4
17g.4933907A>CCA397320837CHRNE,GP1BAc.1303A>C (p.Thr435Pro)
c.-888+435T>G (n.-888+435T>G)
c.1272+31A>C (n.1272+31A>C)
17g.4933907A>GCA397320839CHRNE,GP1BAc.1303A>G (p.Thr435Ala)
c.-888+435T>C (n.-888+435T>C)
c.1272+31A>G (n.1272+31A>G)
 gnomAD v4
17g.4933907A>TCA397320841CHRNE,GP1BAc.1303A>T (p.Thr435Ser)
c.-888+435T>A (n.-888+435T>A)
c.1272+31A>T (n.1272+31A>T)
17g.4933907_4933915delCA2635579213CHRNE,GP1BAc.1303_1311del (p.Thr435_Pro437del)
c.-888+427_-888+435del (n.-888+427_-888+435del)
c.1272+31_1273-40del (n.1272+31_1273-40del)
 gnomAD v4
17g.4933907_4933923delinsACCACCCCAGAGCCCACCA2244625847CHRNE,GP1BAc.1303_1319delinsACCACCCCAGAGCCCAC (p.Thr435=)
c.-888+419_-888+435delinsGTGGGCTCTGGGGTGGT (n.-888+419_-888+435delinsGTGGGCTCTGGGGTGGT)
c.1272+31_1273-32delinsACCACCCCAGAGCCCAC (n.1272+31_1273-32delinsACCACCCCAGAGCCCAC)
17g.4933907_4933945delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGCA2244625848CHRNE,GP1BAc.1303_1341delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCG (p.Thr435=)
c.-888+397_-888+435delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT (n.-888+397_-888+435delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT)
c.1272+31_1273-10delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCG (n.1272+31_1273-10delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCG)
17g.4933908C>ACA397320842CHRNE,GP1BAc.1304C>A (p.Thr435Asn)
c.-888+434G>T (n.-888+434G>T)
c.1272+32C>A (n.1272+32C>A)
17g.4933908C=CA2244625849CHRNE,GP1BAc.1304C= (p.Thr435=)
c.-888+434G= (n.-888+434G=)
c.1272+32C= (n.1272+32C=)
17g.4933908C>GCA397320844CHRNE,GP1BAc.1304C>G (p.Thr435Ser)
c.-888+434G>C (n.-888+434G>C)
c.1272+32C>G (n.1272+32C>G)
17g.4933908C>TCA397320846CHRNE,GP1BAc.1304C>T (p.Thr435Ile)
c.-888+434G>A (n.-888+434G>A)
c.1272+32C>T (n.1272+32C>T)
 dbSNP
17g.4933909_4933924delCA8314969CHRNE,GP1BAc.1305_1320del (p.Thr436GlnfsTer?)
c.-888+419_-888+434del (n.-888+419_-888+434del)
c.1272+33_1273-31del (n.1272+33_1273-31del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933908_4933945delCA980972106CHRNE,GP1BAc.1304_1341del (p.Thr435AsnfsTer?)
c.-888+397_-888+434del (n.-888+397_-888+434del)
c.1272+32_1273-10del (n.1272+32_1273-10del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933909C>ACA497678096CHRNE,GP1BAc.1305C>A (p.Thr435=)
c.-888+433G>T (n.-888+433G>T)
c.1272+33C>A (n.1272+33C>A)
 gnomAD v4
17g.4933909C=CA2244625850CHRNE,GP1BAc.1305C= (p.Thr435=)
c.-888+433G= (n.-888+433G=)
c.1272+33C= (n.1272+33C=)
17g.4933909C>GCA497678094CHRNE,GP1BAc.1305C>G (p.Thr435=)
c.-888+433G>C (n.-888+433G>C)
c.1272+33C>G (n.1272+33C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.4933909C>TCA8314970CHRNE,GP1BAc.1305C>T (p.Thr435=)
c.-888+433G>A (n.-888+433G>A)
c.1272+33C>T (n.1272+33C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933909_4933915delCA2533389871CHRNE,GP1BAc.1305_1311del (p.Thr436SerfsTer?)
c.-888+427_-888+433del (n.-888+427_-888+433del)
c.1272+33_1273-40del (n.1272+33_1273-40del)
17g.4933909_4933945delCA2635579214CHRNE,GP1BAc.1305_1341del (p.Thr436ProfsTer24)
c.-888+397_-888+433del (n.-888+397_-888+433del)
c.1272+33_1273-10del (n.1272+33_1273-10del)
 gnomAD v4
17g.4933909_4933948delinsTCA2573054472CHRNE,GP1BAc.1305_1344delinsT (p.Thr436_Thr448del)
c.-888+394_-888+433delinsA (n.-888+394_-888+433delinsA)
c.1272+33_1273-7delinsT (n.1272+33_1273-7delinsT)
 ClinVar dbSNP
17g.4933910delCA980972111CHRNE,GP1BAc.1306del (p.Thr436ProfsTer?)
c.-888+432del (n.-888+432del)
c.1272+34del (n.1272+34del)
 gnomAD v3 gnomAD v4
17g.4933910A=CA2244625851CHRNE,GP1BAc.1306A= (p.Thr436=)
c.-888+432T= (n.-888+432T=)
c.1272+34A= (n.1272+34A=)
17g.4933910A>CCA397320852CHRNE,GP1BAc.1306A>C (p.Thr436Pro)
c.-888+432T>G (n.-888+432T>G)
c.1272+34A>C (n.1272+34A>C)
 dbSNP gnomAD v4
17g.4933910A>GCA397320851CHRNE,GP1BAc.1306A>G (p.Thr436Ala)
c.-888+432T>C (n.-888+432T>C)
c.1272+34A>G (n.1272+34A>G)
17g.4933910A>TCA397320849CHRNE,GP1BAc.1306A>T (p.Thr436Ser)
c.-888+432T>A (n.-888+432T>A)
c.1272+34A>T (n.1272+34A>T)
17g.4933911C>ACA397320857CHRNE,GP1BAc.1307C>A (p.Thr436Asn)
c.-888+431G>T (n.-888+431G>T)
c.1272+35C>A (n.1272+35C>A)
17g.4933911C>GCA397320855CHRNE,GP1BAc.1307C>G (p.Thr436Ser)
c.-888+431G>C (n.-888+431G>C)
c.1272+35C>G (n.1272+35C>G)
17g.4933911C>TCA397320854CHRNE,GP1BAc.1307C>T (p.Thr436Ile)
c.-888+431G>A (n.-888+431G>A)
c.1272+35C>T (n.1272+35C>T)
 gnomAD v4
17g.4933911_4933922delinsCCCCAGAGCCCACA2244625852CHRNE,GP1BAc.1307_1318delinsCCCCAGAGCCCA (p.Thr436=)
c.-888+420_-888+431delinsTGGGCTCTGGGG (n.-888+420_-888+431delinsTGGGCTCTGGGG)
c.1272+35_1273-33delinsCCCCAGAGCCCA (n.1272+35_1273-33delinsCCCCAGAGCCCA)
17g.4933911_4933924delCA2635579215CHRNE,GP1BAc.1307_1320del (p.Thr436IlefsTer?)
c.-888+418_-888+431del (n.-888+418_-888+431del)
c.1272+35_1273-31del (n.1272+35_1273-31del)
 gnomAD v4
17g.4933912C>ACA497678100CHRNE,GP1BAc.1308C>A (p.Thr436=)
c.-888+430G>T (n.-888+430G>T)
c.1272+36C>A (n.1272+36C>A)
 gnomAD v4
17g.4933912C>GCA497678101CHRNE,GP1BAc.1308C>G (p.Thr436=)
c.-888+430G>C (n.-888+430G>C)
c.1272+36C>G (n.1272+36C>G)
17g.4933912C>TCA497678102CHRNE,GP1BAc.1308C>T (p.Thr436=)
c.-888+430G>A (n.-888+430G>A)
c.1272+36C>T (n.1272+36C>T)
 gnomAD v4
17g.4933914_4933924delCA8314971CHRNE,GP1BAc.1310_1320del (p.Pro437LeufsTer?)
c.-888+420_-888+430del (n.-888+420_-888+430del)
c.1272+38_1273-31del (n.1272+38_1273-31del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933913C>ACA397320862CHRNE,GP1BAc.1309C>A (p.Pro437Thr)
c.-888+429G>T (n.-888+429G>T)
c.1272+37C>A (n.1272+37C>A)
17g.4933913C>GCA397320859CHRNE,GP1BAc.1309C>G (p.Pro437Ala)
c.-888+429G>C (n.-888+429G>C)
c.1272+37C>G (n.1272+37C>G)
17g.4933913C>TCA397320860CHRNE,GP1BAc.1309C>T (p.Pro437Ser)
c.-888+429G>A (n.-888+429G>A)
c.1272+37C>T (n.1272+37C>T)
17g.4933914C>ACA397320864CHRNE,GP1BAc.1310C>A (p.Pro437Gln)
c.-888+428G>T (n.-888+428G>T)
c.1272+38C>A (n.1272+38C>A)
17g.4933914C=CA2244625853CHRNE,GP1BAc.1310C= (p.Pro437=)
c.-888+428G= (n.-888+428G=)
c.1272+38C= (n.1272+38C=)
17g.4933914C>GCA397320866CHRNE,GP1BAc.1310C>G (p.Pro437Arg)
c.-888+428G>C (n.-888+428G>C)
c.1272+38C>G (n.1272+38C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.4933914C>TCA397320867CHRNE,GP1BAc.1310C>T (p.Pro437Leu)
c.-888+428G>A (n.-888+428G>A)
c.1272+38C>T (n.1272+38C>T)
 dbSNP gnomAD v4
17g.4933915A=CA2244625855CHRNE,GP1BAc.1311A= (p.Pro437=)
c.-888+427T= (n.-888+427T=)
c.1273-40A= (n.1273-40A=)
17g.4933915A>CCA497678106CHRNE,GP1BAc.1311A>C (p.Pro437=)
c.-888+427T>G (n.-888+427T>G)
c.1273-40A>C (n.1273-40A>C)
 dbSNP gnomAD v4
17g.4933915A>GCA8314972CHRNE,GP1BAc.1311A>G (p.Pro437=)
c.-888+427T>C (n.-888+427T>C)
c.1273-40A>G (n.1273-40A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933915A>TCA497678108CHRNE,GP1BAc.1311A>T (p.Pro437=)
c.-888+427T>A (n.-888+427T>A)
c.1273-40A>T (n.1273-40A>T)
 gnomAD v4
17g.4933915_4933918delCA2635579216CHRNE,GP1BAc.1311_1314del (p.Glu438ProfsTer?)
c.-888+424_-888+427del (n.-888+424_-888+427del)
c.1273-40_1273-37del (n.1273-40_1273-37del)
 gnomAD v4
17g.4933915_4933954delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGCA2244625854CHRNE,GP1BAc.1311_1350delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (p.Pro437=)
c.-888+388_-888+427delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT (n.-888+388_-888+427delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT)
c.1273-40_1273-1delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (n.1273-40_1273-1delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG)
17g.4933916G>ACA397320874CHRNE,GP1BAc.1312G>A (p.Glu438Lys)
c.-888+426C>T (n.-888+426C>T)
c.1273-39G>A (n.1273-39G>A)
17g.4933916G>CCA397320870CHRNE,GP1BAc.1312G>C (p.Glu438Gln)
c.-888+426C>G (n.-888+426C>G)
c.1273-39G>C (n.1273-39G>C)
17g.4933916G>TCA397320872CHRNE,GP1BAc.1312G>T (p.Glu438Ter)
c.-888+426C>A (n.-888+426C>A)
c.1273-39G>T (n.1273-39G>T)
17g.4933925_4933963delCA8314973CHRNE,GP1BAc.1321_1359del (p.Ser441_Thr453del)
c.-888+388_-888+426del (n.-888+388_-888+426del)
c.1273-30_1281del
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17g.4933917A=CA2244625856CHRNE,GP1BAc.1313A= (p.Glu438=)
c.-888+425T= (n.-888+425T=)
c.1273-38A= (n.1273-38A=)
17g.4933917A>CCA397320876CHRNE,GP1BAc.1313A>C (p.Glu438Ala)
c.-888+425T>G (n.-888+425T>G)
c.1273-38A>C (n.1273-38A>C)
 dbSNP
17g.4933917A>GCA397320877CHRNE,GP1BAc.1313A>G (p.Glu438Gly)
c.-888+425T>C (n.-888+425T>C)
c.1273-38A>G (n.1273-38A>G)
 dbSNP gnomAD v4
17g.4933917A>TCA397320879CHRNE,GP1BAc.1313A>T (p.Glu438Val)
c.-888+425T>A (n.-888+425T>A)
c.1273-38A>T (n.1273-38A>T)
17g.4933918G>ACA497678115CHRNE,GP1BAc.1314G>A (p.Glu438=)
c.-888+424C>T (n.-888+424C>T)
c.1273-37G>A (n.1273-37G>A)
17g.4933918G>CCA397320881CHRNE,GP1BAc.1314G>C (p.Glu438Asp)
c.-888+424C>G (n.-888+424C>G)
c.1273-37G>C (n.1273-37G>C)
17g.4933918G>TCA397320882CHRNE,GP1BAc.1314G>T (p.Glu438Asp)
c.-888+424C>A (n.-888+424C>A)
c.1273-37G>T (n.1273-37G>T)
17g.4933919C>ACA397320884CHRNE,GP1BAc.1315C>A (p.Pro439Thr)
c.-888+423G>T (n.-888+423G>T)
c.1273-36C>A (n.1273-36C>A)
17g.4933919C>GCA397320885CHRNE,GP1BAc.1315C>G (p.Pro439Ala)
c.-888+423G>C (n.-888+423G>C)
c.1273-36C>G (n.1273-36C>G)
17g.4933919C>TCA397320887CHRNE,GP1BAc.1315C>T (p.Pro439Ser)
c.-888+423G>A (n.-888+423G>A)
c.1273-36C>T (n.1273-36C>T)
17g.4933920C>ACA397320889CHRNE,GP1BAc.1316C>A (p.Pro439His)
c.-888+422G>T (n.-888+422G>T)
c.1273-35C>A (n.1273-35C>A)
17g.4933920C>GCA397320891CHRNE,GP1BAc.1316C>G (p.Pro439Arg)
c.-888+422G>C (n.-888+422G>C)
c.1273-35C>G (n.1273-35C>G)
17g.4933920C>TCA397320890CHRNE,GP1BAc.1316C>T (p.Pro439Leu)
c.-888+422G>A (n.-888+422G>A)
c.1273-35C>T (n.1273-35C>T)
17g.4933921C>ACA497678121CHRNE,GP1BAc.1317C>A (p.Pro439=)
c.-888+421G>T (n.-888+421G>T)
c.1273-34C>A (n.1273-34C>A)
 gnomAD v4
17g.4933921C=CA2244625857CHRNE,GP1BAc.1317C= (p.Pro439=)
c.-888+421G= (n.-888+421G=)
c.1273-34C= (n.1273-34C=)
17g.4933921C>GCA497678123CHRNE,GP1BAc.1317C>G (p.Pro439=)
c.-888+421G>C (n.-888+421G>C)
c.1273-34C>G (n.1273-34C>G)
17g.4933921C>TCA497678124CHRNE,GP1BAc.1317C>T (p.Pro439=)
c.-888+421G>A (n.-888+421G>A)
c.1273-34C>T (n.1273-34C>T)
 dbSNP
17g.4933922A=CA2244625858CHRNE,GP1BAc.1318A= (p.Thr440=)
c.-888+420T= (n.-888+420T=)
c.1273-33A= (n.1273-33A=)
17g.4933922A>CCA397320892CHRNE,GP1BAc.1318A>C (p.Thr440Pro)
c.-888+420T>G (n.-888+420T>G)
c.1273-33A>C (n.1273-33A>C)
 dbSNP
17g.4933922A>GCA397320894CHRNE,GP1BAc.1318A>G (p.Thr440Ala)
c.-888+420T>C (n.-888+420T>C)
c.1273-33A>G (n.1273-33A>G)
17g.4933922A>TCA397320895CHRNE,GP1BAc.1318A>T (p.Thr440Ser)
c.-888+420T>A (n.-888+420T>A)
c.1273-33A>T (n.1273-33A>T)
17g.4933923C>ACA397320897CHRNE,GP1BAc.1319C>A (p.Thr440Asn)
c.-888+419G>T (n.-888+419G>T)
c.1273-32C>A (n.1273-32C>A)
17g.4933923C=CA2244625859CHRNE,GP1BAc.1319C= (p.Thr440=)
c.-888+419G= (n.-888+419G=)
c.1273-32C= (n.1273-32C=)
17g.4933923C>GCA397320898CHRNE,GP1BAc.1319C>G (p.Thr440Ser)
c.-888+419G>C (n.-888+419G>C)
c.1273-32C>G (n.1273-32C>G)
17g.4933923C>TCA397320900CHRNE,GP1BAc.1319C>T (p.Thr440Ile)
c.-888+419G>A (n.-888+419G>A)
c.1273-32C>T (n.1273-32C>T)
 dbSNP
17g.4933924delCA2635579218CHRNE,GP1BAc.1320del (p.Ser441GlnfsTer?)
c.-888+419del (n.-888+419del)
c.1273-31del (n.1273-31del)
 gnomAD v4
17g.4933925_4933936delCA2635579219CHRNE,GP1BAc.1321_1332del (p.Ser441_Ala444del)
c.-888+408_-888+419del (n.-888+408_-888+419del)
c.1273-30_1273-19del (n.1273-30_1273-19del)
 gnomAD v4
17g.4933924C>ACA497678126CHRNE,GP1BAc.1320C>A (p.Thr440=)
c.-888+418G>T (n.-888+418G>T)
c.1273-31C>A (n.1273-31C>A)
17g.4933924C=CA2244625860CHRNE,GP1BAc.1320C= (p.Thr440=)
c.-888+418G= (n.-888+418G=)
c.1273-31C= (n.1273-31C=)
17g.4933924C>GCA497678127CHRNE,GP1BAc.1320C>G (p.Thr440=)
c.-888+418G>C (n.-888+418G>C)
c.1273-31C>G (n.1273-31C>G)
17g.4933924C>TCA497678128CHRNE,GP1BAc.1320C>T (p.Thr440=)
c.-888+418G>A (n.-888+418G>A)
c.1273-31C>T (n.1273-31C>T)
17g.4933924_4933925insCCAACA624856160CHRNE,GP1BAc.1320_1321insCCAA (p.Ser441ProfsTer?)
c.-888+417_-888+418insTTGG (n.-888+417_-888+418insTTGG)
c.1273-31_1273-30insCCAA (n.1273-31_1273-30insCCAA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933925T>ACA397320901CHRNE,GP1BAc.1321T>A (p.Ser441Thr)
c.-888+417A>T (n.-888+417A>T)
c.1273-30T>A (n.1273-30T>A)
 gnomAD v4
17g.4933925T>CCA287217392CHRNE,GP1BAc.1321T>C (p.Ser441Pro)
c.-888+417A>G (n.-888+417A>G)
c.1273-30T>C (n.1273-30T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933925T>GCA397320903CHRNE,GP1BAc.1321T>G (p.Ser441Ala)
c.-888+417A>C (n.-888+417A>C)
c.1273-30T>G (n.1273-30T>G)
17g.4933925T=CA2244625868CHRNE,GP1BAc.1321T= (p.Ser441=)
c.-888+417A= (n.-888+417A=)
c.1273-30T= (n.1273-30T=)
17g.4933925_4933932delinsTCAGAGCCCA2244625862CHRNE,GP1BAc.1321_1328delinsTCAGAGCC (p.Ser441=)
c.-888+410_-888+417delinsGGCTCTGA (n.-888+410_-888+417delinsGGCTCTGA)
c.1273-30_1273-23delinsTCAGAGCC (n.1273-30_1273-23delinsTCAGAGCC)
17g.4933925_4933933delinsTCAGAGCCCCA2244625867CHRNE,GP1BAc.1321_1329delinsTCAGAGCCC (p.Ser441=)
c.-888+409_-888+417delinsGGGCTCTGA (n.-888+409_-888+417delinsGGGCTCTGA)
c.1273-30_1273-22delinsTCAGAGCCC (n.1273-30_1273-22delinsTCAGAGCCC)
17g.4933925_4933938delinsTCAGAGCCCGCCCCCA2244625861CHRNE,GP1BAc.1321_1334delinsTCAGAGCCCGCCCC (p.Ser441=)
c.-888+404_-888+417delinsGGGGCGGGCTCTGA (n.-888+404_-888+417delinsGGGGCGGGCTCTGA)
c.1273-30_1273-17delinsTCAGAGCCCGCCCC (n.1273-30_1273-17delinsTCAGAGCCCGCCCC)
17g.4933925_4933941delinsTCAGAGCCCGCCCCCAGCA2244625864CHRNE,GP1BAc.1321_1337delinsTCAGAGCCCGCCCCCAG (p.Ser441=)
c.-888+401_-888+417delinsCTGGGGGCGGGCTCTGA (n.-888+401_-888+417delinsCTGGGGGCGGGCTCTGA)
c.1273-30_1273-14delinsTCAGAGCCCGCCCCCAG (n.1273-30_1273-14delinsTCAGAGCCCGCCCCCAG)
17g.4933925_4933944delinsTCAGAGCCCGCCCCCAGCCCCA2244625863CHRNE,GP1BAc.1321_1340delinsTCAGAGCCCGCCCCCAGCCC (p.Ser441=)
c.-888+398_-888+417delinsGGGCTGGGGGCGGGCTCTGA (n.-888+398_-888+417delinsGGGCTGGGGGCGGGCTCTGA)
c.1273-30_1273-11delinsTCAGAGCCCGCCCCCAGCCC (n.1273-30_1273-11delinsTCAGAGCCCGCCCCCAGCCC)
17g.4933925_4933948delinsTCAGAGCCCGCCCCCAGCCCGACCCA2244625866CHRNE,GP1BAc.1321_1344delinsTCAGAGCCCGCCCCCAGCCCGACC (p.Ser441=)
c.-888+394_-888+417delinsGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+394_-888+417delinsGGTCGGGCTGGGGGCGGGCTCTGA)
c.1273-30_1273-7delinsTCAGAGCCCGCCCCCAGCCCGACC (n.1273-30_1273-7delinsTCAGAGCCCGCCCCCAGCCCGACC)
17g.4933925_4933953delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCCA2244625865CHRNE,GP1BAc.1321_1349delinsTCAGAGCCCGCCCCCAGCCCGACCACCCC (p.Ser441=)
c.-888+389_-888+417delinsGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+389_-888+417delinsGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1273-30_1273-2delinsTCAGAGCCCGCCCCCAGCCCGACCACCCC (n.1273-30_1273-2delinsTCAGAGCCCGCCCCCAGCCCGACCACCCC)
17g.4933926C>ACA397320905CHRNE,GP1BAc.1322C>A (p.Ser441Ter)
c.-888+416G>T (n.-888+416G>T)
c.1273-29C>A (n.1273-29C>A)
17g.4933926C>GCA397320907CHRNE,GP1BAc.1322C>G (p.Ser441Ter)
c.-888+416G>C (n.-888+416G>C)
c.1273-29C>G (n.1273-29C>G)
17g.4933926C>TCA397320908CHRNE,GP1BAc.1322C>T (p.Ser441Leu)
c.-888+416G>A (n.-888+416G>A)
c.1273-29C>T (n.1273-29C>T)
17g.4933927_4933932delCA2565253285CHRNE,GP1BAc.1323_1328del (p.Glu442_Pro443del)
c.-888+411_-888+416del (n.-888+411_-888+416del)
c.1273-28_1273-23del (n.1273-28_1273-23del)
17g.4933926_4933933delCA8314976CHRNE,GP1BAc.1322_1329del (p.Ser441CysfsTer?)
c.-888+409_-888+416del (n.-888+409_-888+416del)
c.1273-29_1273-22del (n.1273-29_1273-22del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933927_4933933delCA980972126CHRNE,GP1BAc.1323_1329del (p.Glu442ProfsTer28)
c.-888+410_-888+416del (n.-888+410_-888+416del)
c.1273-28_1273-22del (n.1273-28_1273-22del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933929_4933941delCA980972129CHRNE,GP1BAc.1325_1337del (p.Glu442AlafsTer26)
c.-888+404_-888+416del (n.-888+404_-888+416del)
c.1273-26_1273-14del (n.1273-26_1273-14del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933927_4933942delCA980972130CHRNE,GP1BAc.1323_1338del (p.Glu442ArgfsTer25)
c.-888+401_-888+416del (n.-888+401_-888+416del)
c.1273-28_1273-13del (n.1273-28_1273-13del)
 dbSNP gnomAD v3 gnomAD v4
17g.4933926_4933944delCA8314975CHRNE,GP1BAc.1322_1340del (p.Ser441Ter)
c.-888+398_-888+416del (n.-888+398_-888+416del)
c.1273-29_1273-11del (n.1273-29_1273-11del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933926_4933948delCA8314974CHRNE,GP1BAc.1322_1344del (p.Ser441TyrfsTer?)
c.-888+394_-888+416del (n.-888+394_-888+416del)
c.1273-29_1273-7del (n.1273-29_1273-7del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933926_4933953delCA8314977CHRNE,GP1BAc.1322_1349del (p.Ser441TrpfsTer22)
c.-888+389_-888+416del (n.-888+389_-888+416del)
c.1273-29_1273-2del (n.1273-29_1273-2del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933927A=CA2244625869CHRNE,GP1BAc.1323A= (p.Ser441=)
c.-888+415T= (n.-888+415T=)
c.1273-28A= (n.1273-28A=)
17g.4933927A>CCA497678140CHRNE,GP1BAc.1323A>C (p.Ser441=)
c.-888+415T>G (n.-888+415T>G)
c.1273-28A>C (n.1273-28A>C)
17g.4933927A>GCA497678143CHRNE,GP1BAc.1323A>G (p.Ser441=)
c.-888+415T>C (n.-888+415T>C)
c.1273-28A>G (n.1273-28A>G)
17g.4933927A>TCA497678145CHRNE,GP1BAc.1323A>T (p.Ser441=)
c.-888+415T>A (n.-888+415T>A)
c.1273-28A>T (n.1273-28A>T)
 dbSNP gnomAD v4
17g.4933927_4933928delinsAGCA2244625870CHRNE,GP1BAc.1323_1324delinsAG (p.Ser441=)
c.-888+414_-888+415delinsCT (n.-888+414_-888+415delinsCT)
c.1273-28_1273-27delinsAG (n.1273-28_1273-27delinsAG)
17g.4933928delCA624856161CHRNE,GP1BAc.1324del (p.Glu442SerfsTer30)
c.-888+414del (n.-888+414del)
c.1273-27del (n.1273-27del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933928G>ACA397320911CHRNE,GP1BAc.1324G>A (p.Glu442Lys)
c.-888+414C>T (n.-888+414C>T)
c.1273-27G>A (n.1273-27G>A)
17g.4933928G>CCA397320913CHRNE,GP1BAc.1324G>C (p.Glu442Gln)
c.-888+414C>G (n.-888+414C>G)
c.1273-27G>C (n.1273-27G>C)
 gnomAD v4
17g.4933928G>TCA397320915CHRNE,GP1BAc.1324G>T (p.Glu442Ter)
c.-888+414C>A (n.-888+414C>A)
c.1273-27G>T (n.1273-27G>T)
17g.4933928_4933939delinsGAGCCCGCCCCCCA2244625871CHRNE,GP1BAc.1324_1335delinsGAGCCCGCCCCC (p.Glu442=)
c.-888+403_-888+414delinsGGGGGCGGGCTC (n.-888+403_-888+414delinsGGGGGCGGGCTC)
c.1273-27_1273-16delinsGAGCCCGCCCCC (n.1273-27_1273-16delinsGAGCCCGCCCCC)
17g.4933930_4933973delCA980972133CHRNE,GP1BAc.1326_1369del (p.Glu442AspfsTer?)
c.-888+371_-888+414del (n.-888+371_-888+414del)
c.1273-25_1291del
 gnomAD v3 gnomAD v4
17g.4933929A>CCA397320919CHRNE,GP1BAc.1325A>C (p.Glu442Ala)
c.-888+413T>G (n.-888+413T>G)
c.1273-26A>C (n.1273-26A>C)
17g.4933929A>GCA397320918CHRNE,GP1BAc.1325A>G (p.Glu442Gly)
c.-888+413T>C (n.-888+413T>C)
c.1273-26A>G (n.1273-26A>G)
 gnomAD v4
17g.4933929A>TCA397320916CHRNE,GP1BAc.1325A>T (p.Glu442Val)
c.-888+413T>A (n.-888+413T>A)
c.1273-26A>T (n.1273-26A>T)
17g.4933935_4933945delCA2244625872CHRNE,GP1BAc.1331_1341del (p.Ala444AspfsTer?)
c.-888+403_-888+413del (n.-888+403_-888+413del)
c.1273-20_1273-10del (n.1273-20_1273-10del)
 dbSNP
17g.4933930G>ACA497678149CHRNE,GP1BAc.1326G>A (p.Glu442=)
c.-888+412C>T (n.-888+412C>T)
c.1273-25G>A (n.1273-25G>A)
17g.4933930G>CCA397320921CHRNE,GP1BAc.1326G>C (p.Glu442Asp)
c.-888+412C>G (n.-888+412C>G)
c.1273-25G>C (n.1273-25G>C)
17g.4933930G=CA2244625873CHRNE,GP1BAc.1326G= (p.Glu442=)
c.-888+412C= (n.-888+412C=)
c.1273-25G= (n.1273-25G=)
17g.4933930G>TCA397320922CHRNE,GP1BAc.1326G>T (p.Glu442Asp)
c.-888+412C>A (n.-888+412C>A)
c.1273-25G>T (n.1273-25G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933930_4933938delCA2573152978CHRNE,GP1BAc.1326_1334del (p.Glu442_Pro445delinsAsp)
c.-888+404_-888+412del (n.-888+404_-888+412del)
c.1273-25_1273-17del (n.1273-25_1273-17del)
 ClinVar dbSNP
17g.4933931C>ACA397320923CHRNE,GP1BAc.1327C>A (p.Pro443Thr)
c.-888+411G>T (n.-888+411G>T)
c.1273-24C>A (n.1273-24C>A)
17g.4933931C>GCA397320925CHRNE,GP1BAc.1327C>G (p.Pro443Ala)
c.-888+411G>C (n.-888+411G>C)
c.1273-24C>G (n.1273-24C>G)
17g.4933931C>TCA397320926CHRNE,GP1BAc.1327C>T (p.Pro443Ser)
c.-888+411G>A (n.-888+411G>A)
c.1273-24C>T (n.1273-24C>T)
17g.4933935_4933972delCA980972139CHRNE,GP1BAc.1331_1368del (p.Ala444AspfsTer?)
c.-888+374_-888+411del (n.-888+374_-888+411del)
c.1273-20_1290del
 gnomAD v3 gnomAD v4
17g.4933932_4933975delCA980972143CHRNE,GP1BAc.1328_1371del (p.Pro443HisfsTer?)
c.-888+368_-888+411del (n.-888+368_-888+411del)
c.1273-23_1293del
 gnomAD v3 gnomAD v4
17g.4933932C>ACA397320928CHRNE,GP1BAc.1328C>A (p.Pro443His)
c.-888+410G>T (n.-888+410G>T)
c.1273-23C>A (n.1273-23C>A)
 gnomAD v4
17g.4933932C=CA2244625874CHRNE,GP1BAc.1328C= (p.Pro443=)
c.-888+410G= (n.-888+410G=)
c.1273-23C= (n.1273-23C=)
17g.4933932C>GCA397320929CHRNE,GP1BAc.1328C>G (p.Pro443Arg)
c.-888+410G>C (n.-888+410G>C)
c.1273-23C>G (n.1273-23C>G)
17g.4933932C>TCA397320930CHRNE,GP1BAc.1328C>T (p.Pro443Leu)
c.-888+410G>A (n.-888+410G>A)
c.1273-23C>T (n.1273-23C>T)
 dbSNP
17g.4933933C>ACA497678156CHRNE,GP1BAc.1329C>A (p.Pro443=)
c.-888+409G>T (n.-888+409G>T)
c.1273-22C>A (n.1273-22C>A)
17g.4933933C=CA2244625875CHRNE,GP1BAc.1329C= (p.Pro443=)
c.-888+409G= (n.-888+409G=)
c.1273-22C= (n.1273-22C=)
17g.4933933C>GCA497678157CHRNE,GP1BAc.1329C>G (p.Pro443=)
c.-888+409G>C (n.-888+409G>C)
c.1273-22C>G (n.1273-22C>G)
17g.4933933C>TCA497678158CHRNE,GP1BAc.1329C>T (p.Pro443=)
c.-888+409G>A (n.-888+409G>A)
c.1273-22C>T (n.1273-22C>T)
 dbSNP
17g.4933934G>ACA287217413CHRNE,GP1BAc.1330G>A (p.Ala444Thr)
c.-888+408C>T (n.-888+408C>T)
c.1273-21G>A (n.1273-21G>A)
 dbSNP gnomAD v4
17g.4933934G>CCA397320931CHRNE,GP1BAc.1330G>C (p.Ala444Pro)
c.-888+408C>G (n.-888+408C>G)
c.1273-21G>C (n.1273-21G>C)
17g.4933934G=CA2244625876CHRNE,GP1BAc.1330G= (p.Ala444=)
c.-888+408C= (n.-888+408C=)
c.1273-21G= (n.1273-21G=)
17g.4933934G>TCA397320933CHRNE,GP1BAc.1330G>T (p.Ala444Ser)
c.-888+408C>A (n.-888+408C>A)
c.1273-21G>T (n.1273-21G>T)
17g.4933935C>ACA397320938CHRNE,GP1BAc.1331C>A (p.Ala444Asp)
c.-888+407G>T (n.-888+407G>T)
c.1273-20C>A (n.1273-20C>A)
17g.4933935C>GCA397320936CHRNE,GP1BAc.1331C>G (p.Ala444Gly)
c.-888+407G>C (n.-888+407G>C)
c.1273-20C>G (n.1273-20C>G)
17g.4933935C>TCA397320935CHRNE,GP1BAc.1331C>T (p.Ala444Val)
c.-888+407G>A (n.-888+407G>A)
c.1273-20C>T (n.1273-20C>T)
 gnomAD v4
17g.4933939dupCA772703154CHRNE,GP1BAc.1335dup (p.Ser446GlnfsTer?)
c.-888+407dup (n.-888+407dup)
c.1273-16dup (n.1273-16dup)
 dbSNP
17g.4933936C>ACA497678164CHRNE,GP1BAc.1332C>A (p.Ala444=)
c.-888+406G>T (n.-888+406G>T)
c.1273-19C>A (n.1273-19C>A)
17g.4933936C=CA2244625877CHRNE,GP1BAc.1332C= (p.Ala444=)
c.-888+406G= (n.-888+406G=)
c.1273-19C= (n.1273-19C=)
17g.4933936C>GCA497678166CHRNE,GP1BAc.1332C>G (p.Ala444=)
c.-888+406G>C (n.-888+406G>C)
c.1273-19C>G (n.1273-19C>G)
17g.4933936C>TCA287217417CHRNE,GP1BAc.1332C>T (p.Ala444=)
c.-888+406G>A (n.-888+406G>A)
c.1273-19C>T (n.1273-19C>T)
 dbSNP
17g.4933938_4933975delCA980972152CHRNE,GP1BAc.1334_1371del (p.Pro445HisfsTer?)
c.-888+369_-888+406del (n.-888+369_-888+406del)
c.1273-17_1293del
 gnomAD v3 gnomAD v4
17g.4933937C>ACA397320940CHRNE,GP1BAc.1333C>A (p.Pro445Thr)
c.-888+405G>T (n.-888+405G>T)
c.1273-18C>A (n.1273-18C>A)
 gnomAD v4
17g.4933937C>GCA397320942CHRNE,GP1BAc.1333C>G (p.Pro445Ala)
c.-888+405G>C (n.-888+405G>C)
c.1273-18C>G (n.1273-18C>G)
17g.4933937C>TCA397320943CHRNE,GP1BAc.1333C>T (p.Pro445Ser)
c.-888+405G>A (n.-888+405G>A)
c.1273-18C>T (n.1273-18C>T)
17g.4933938C>ACA397320945CHRNE,GP1BAc.1334C>A (p.Pro445His)
c.-888+404G>T (n.-888+404G>T)
c.1273-17C>A (n.1273-17C>A)
17g.4933938C=CA2244625878CHRNE,GP1BAc.1334C= (p.Pro445=)
c.-888+404G= (n.-888+404G=)
c.1273-17C= (n.1273-17C=)
17g.4933938C>GCA397320946CHRNE,GP1BAc.1334C>G (p.Pro445Arg)
c.-888+404G>C (n.-888+404G>C)
c.1273-17C>G (n.1273-17C>G)
17g.4933938C>TCA397320948CHRNE,GP1BAc.1334C>T (p.Pro445Leu)
c.-888+404G>A (n.-888+404G>A)
c.1273-17C>T (n.1273-17C>T)
 dbSNP
17g.4933939C>ACA287217428CHRNE,GP1BAc.1335C>A (p.Pro445=)
c.-888+403G>T (n.-888+403G>T)
c.1273-16C>A (n.1273-16C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933939C=CA2244625879CHRNE,GP1BAc.1335C= (p.Pro445=)
c.-888+403G= (n.-888+403G=)
c.1273-16C= (n.1273-16C=)
17g.4933939C>GCA497678173CHRNE,GP1BAc.1335C>G (p.Pro445=)
c.-888+403G>C (n.-888+403G>C)
c.1273-16C>G (n.1273-16C>G)
 dbSNP
17g.4933939C>TCA497678175CHRNE,GP1BAc.1335C>T (p.Pro445=)
c.-888+403G>A (n.-888+403G>A)
c.1273-16C>T (n.1273-16C>T)
17g.4933940A=CA2244625880CHRNE,GP1BAc.1336A= (p.Ser446=)
c.-888+402T= (n.-888+402T=)
c.1273-15A= (n.1273-15A=)
17g.4933940A>CCA397320950CHRNE,GP1BAc.1336A>C (p.Ser446Arg)
c.-888+402T>G (n.-888+402T>G)
c.1273-15A>C (n.1273-15A>C)
 dbSNP
17g.4933940A>GCA397320952CHRNE,GP1BAc.1336A>G (p.Ser446Gly)
c.-888+402T>C (n.-888+402T>C)
c.1273-15A>G (n.1273-15A>G)
17g.4933940A>TCA397320953CHRNE,GP1BAc.1336A>T (p.Ser446Cys)
c.-888+402T>A (n.-888+402T>A)
c.1273-15A>T (n.1273-15A>T)

Number of alleles fetched