UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.51068891_51078373del | CA1139666071 | SMAD4 | c.1308+1704_1565del c.1308+1704_*1562del c.1308+1704_*217del n.2680+1704_3580del n.1759+1704_3495del n.1416+1704_1786del n.1416+1704_1673del n.2790+1704_4526del c.1020+1704_1277del n.3309+1704_3566del c.956-7747_1212del c.508+1704_878del | ClinVar |
| 18 | g.51076640_51076778del | CA1139659298 | SMAD4 | c.1311_1447+2del c.1311_1449del (p.Phe438SerfsTer8) n.2683_2821del n.1762_1900del n.1419_1555+2del n.2793_2931del c.1023_1159+2del n.369_505+2del n.3312_3448+2del c.958_1094+2del c.78_216del (p.Phe27SerfsTer8) c.511_647+2del | ClinVar |
| 18 | g.51076639_51078468del | CA1139532680 | SMAD4 | c.1310_*1del c.1310_*1657del (n.[c.1310_*1657del;Val437GlyfsTer?]) c.1310_*312del n.2682_3675del n.1761_3590del n.1418_1881del n.1418_1768del n.2792_4621del n.3311_3661del c.510_973del | |
| 18 | g.51076780_51076783del | CA645609188 | SMAD4 | c.1447+4_1447+7del c.1451_1454del (p.Lys484MetfsTer7) n.2823_2826del n.1902_1905del n.1555+4_1555+7del n.2933_2936del c.1159+4_1159+7del n.505+4_505+7del n.3448+4_3448+7del c.1094+4_1094+7del c.218_221del (p.Lys73MetfsTer7) c.647+4_647+7del | COSMIC |
| 18 | g.51076778T>A | CA402465398 | SMAD4 | c.1447+2T>A (n.1447+2T>A) c.1449T>A (p.Ser483Arg) n.2821T>A n.1900T>A n.1555+2T>A n.2931T>A c.1159+2T>A (n.1159+2T>A) n.505+2T>A n.3448+2T>A c.1094+2T>A (n.1094+2T>A) c.216T>A (p.Ser72Arg) c.647+2T>A | dbSNP |
| 18 | g.51076778T>C | CA16616086 | SMAD4 | c.1447+2T>C (n.1447+2T>C) c.1449T>C (p.Ser483=) n.2821T>C n.1900T>C n.1555+2T>C n.2931T>C c.1159+2T>C (n.1159+2T>C) n.505+2T>C n.3448+2T>C c.1094+2T>C (n.1094+2T>C) c.216T>C (p.Ser72=) c.647+2T>C | ClinVar dbSNP |
| 18 | g.51076778T>G | CA402465399 | SMAD4 | c.1447+2T>G (n.1447+2T>G) c.1449T>G (p.Ser483Arg) n.2821T>G n.1900T>G n.1555+2T>G n.2931T>G c.1159+2T>G (n.1159+2T>G) n.505+2T>G n.3448+2T>G c.1094+2T>G (n.1094+2T>G) c.216T>G (p.Ser72Arg) c.647+2T>G | |
| 18 | g.51076778T= | CA2302986266 | SMAD4 | c.1447+2T= (n.1447+2T=) c.1449T= (p.Ser483=) n.2821T= n.1900T= n.1555+2T= n.2931T= c.1159+2T= (n.1159+2T=) n.505+2T= n.3448+2T= c.1094+2T= (n.1094+2T=) c.216T= (p.Ser72=) c.647+2T= | |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT | CA8966059 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT (p.Lys484LeufsTer23) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT (p.Lys73LeufsTer23) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTT | dbSNP ExAC |
| 18 | g.51076778_51076779insCTGTC | CA629926701 | SMAD4 | c.1447+2_1447+3insCTGTC (n.1447+2_1447+3insCTGTC) c.1449_1450insCTGTC (p.Lys484LeufsTer10) n.2821_2822insCTGTC n.1900_1901insCTGTC n.1555+2_1555+3insCTGTC n.2931_2932insCTGTC c.1159+2_1159+3insCTGTC (n.1159+2_1159+3insCTGTC) n.505+2_505+3insCTGTC n.3448+2_3448+3insCTGTC c.1094+2_1094+3insCTGTC (n.1094+2_1094+3insCTGTC) c.216_217insCTGTC (p.Lys73LeufsTer10) c.647+2_647+3insCTGTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGG | CA8966060 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGG) c.1449_1450insCTGTCAGCTGCTGCTGG (p.Lys484LeufsTer14) n.2821_2822insCTGTCAGCTGCTGCTGG n.1900_1901insCTGTCAGCTGCTGCTGG n.1555+2_1555+3insCTGTCAGCTGCTGCTGG n.2931_2932insCTGTCAGCTGCTGCTGG c.1159+2_1159+3insCTGTCAGCTGCTGCTGG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGG) n.505+2_505+3insCTGTCAGCTGCTGCTGG n.3448+2_3448+3insCTGTCAGCTGCTGCTGG c.1094+2_1094+3insCTGTCAGCTGCTGCTGG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGG) c.216_217insCTGTCAGCTGCTGCTGG (p.Lys73LeufsTer14) c.647+2_647+3insCTGTCAGCTGCTGCTGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTG | CA2641838878 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTG (p.Lys484LeufsTer33) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTG (p.Lys73LeufsTer33) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTG | gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG | CA629926700 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG (p.Lys484LeufsTer34) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG (p.Lys73LeufsTer34) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATG | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC | CA629926699 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (p.Ser483_Lys484insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeu) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (p.Ser72_Lys73insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeu) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC | gnomAD v2 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG | CA2641838877 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG (p.Ser483_Lys484insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArg) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG (p.Ser72_Lys73insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArg) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGG | gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG | CA990255683 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (p.Ser483_Lys484insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMet) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (p.Ser72_Lys73insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMet) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG | CA990255682 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG (p.Ser483_Lys484insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheVal) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG (p.Ser72_Lys73insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheVal) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTG | gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA | CA8966061 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA (p.Lys484LeufsTer47) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA (p.Lys73LeufsTer47) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGA | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG | CA629926698 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG (p.Lys484LeufsTer35) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG (p.Lys73LeufsTer35) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG | CA2641838876 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG (p.Lys484LeufsTer52) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG (p.Lys73LeufsTer52) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGG | gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC | CA990255681 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC (p.Lys484LeufsTer39) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC (p.Lys73LeufsTer39) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCC | gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG | CA990255680 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (p.Ser483_Lys484insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGln) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (p.Ser72_Lys73insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGln) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC | CA990255674 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC (p.Ser483_Lys484insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIle) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC (p.Ser72_Lys73insLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIle) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATC | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA | CA629926697 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA (p.Lys484LeufsTer59) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA (p.Lys73LeufsTer59) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076778_51076779insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA | CA629926696 | SMAD4 | c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA (n.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA) c.1449_1450insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA (p.Lys484LeufsTer45) n.2821_2822insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA n.1900_1901insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA n.1555+2_1555+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA n.2931_2932insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA c.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA (n.1159+2_1159+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA) n.505+2_505+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA n.3448+2_3448+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA c.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA (n.1094+2_1094+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA) c.216_217insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA (p.Lys73LeufsTer45) c.647+2_647+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGA | gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076779A= | CA2302986267 | SMAD4 | c.1447+3A= (n.1447+3A=) c.1450A= (p.Lys484=) n.2822A= n.1901A= n.1555+3A= n.2932A= c.1159+3A= (n.1159+3A=) n.505+3A= n.3448+3A= c.1094+3A= (n.1094+3A=) c.217A= (p.Lys73=) c.647+3A= | |
| 18 | g.51076779A>C | CA8966062 | SMAD4 | c.1447+3A>C (n.1447+3A>C) c.1450A>C (p.Lys484Gln) n.2822A>C n.1901A>C n.1555+3A>C n.2932A>C c.1159+3A>C (n.1159+3A>C) n.505+3A>C n.3448+3A>C c.1094+3A>C (n.1094+3A>C) c.217A>C (p.Lys73Gln) c.647+3A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.51076779A>G | CA402465400 | SMAD4 | c.1447+3A>G (n.1447+3A>G) c.1450A>G (p.Lys484Glu) n.2822A>G n.1901A>G n.1555+3A>G n.2932A>G c.1159+3A>G (n.1159+3A>G) n.505+3A>G n.3448+3A>G c.1094+3A>G (n.1094+3A>G) c.217A>G (p.Lys73Glu) c.647+3A>G | |
| 18 | g.51076779A>T | CA16615804 | SMAD4 | c.1447+3A>T (n.1447+3A>T) c.1450A>T (p.Lys484Ter) n.2822A>T n.1901A>T n.1555+3A>T n.2932A>T c.1159+3A>T (n.1159+3A>T) n.505+3A>T n.3448+3A>T c.1094+3A>T (n.1094+3A>T) c.217A>T (p.Lys73Ter) c.647+3A>T | ClinVar dbSNP |
| 18 | g.51076780dup | CA168718 | SMAD4 | c.1447+4dup (n.1447+4dup) c.1451dup (p.Tyr485ValfsTer23) n.2823dup n.1902dup n.1555+4dup n.2933dup c.1159+4dup (n.1159+4dup) n.505+4dup n.3448+4dup c.1094+4dup (n.1094+4dup) c.218dup (p.Tyr74ValfsTer23) c.647+4dup | ClinVar dbSNP |
| 18 | g.51076779_51076785del | CA990255678 | SMAD4 | c.1447+3_1447+9del (n.1447+3_1447+9del) c.1450_1456del (p.Lys484LeufsTer6) n.2822_2828del n.1901_1907del n.1555+3_1555+9del n.2932_2938del c.1159+3_1159+9del (n.1159+3_1159+9del) n.505+3_505+9del n.3448+3_3448+9del c.1094+3_1094+9del (n.1094+3_1094+9del) c.217_223del (p.Lys73LeufsTer6) c.647+3_647+9del | gnomAD v3 gnomAD v4 |
| 18 | g.51076779_51076780insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC | CA629926702 | SMAD4 | c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (n.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC) c.1450_1451insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (p.Lys484SerfsTer8) n.2822_2823insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.1901_1902insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.1555+3_1555+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.2932_2933insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC c.1159+3_1159+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (n.1159+3_1159+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC) n.505+3_505+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC n.3448+3_3448+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC c.1094+3_1094+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (n.1094+3_1094+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC) c.217_218insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC (p.Lys73SerfsTer8) c.647+3_647+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076779_51076780insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG | CA629926703 | SMAD4 | c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (n.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG) c.1450_1451insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (p.Lys484SerfsTer8) n.2822_2823insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.1901_1902insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.1555+3_1555+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.2932_2933insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG c.1159+3_1159+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (n.1159+3_1159+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG) n.505+3_505+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG n.3448+3_3448+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG c.1094+3_1094+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (n.1094+3_1094+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG) c.217_218insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG (p.Lys73SerfsTer8) c.647+3_647+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076779_51076780insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG | CA990255694 | SMAD4 | c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (n.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG) c.1450_1451insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (p.Lys484SerfsTer8) n.2822_2823insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.1901_1902insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.1555+3_1555+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.2932_2933insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG c.1159+3_1159+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (n.1159+3_1159+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG) n.505+3_505+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG n.3448+3_3448+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG c.1094+3_1094+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (n.1094+3_1094+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG) c.217_218insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG (p.Lys73SerfsTer8) c.647+3_647+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAG | gnomAD v3 gnomAD v4 |
| 18 | g.51076780A= | CA2302986268 | SMAD4 | c.1447+4A= (n.1447+4A=) c.1451A= (p.Lys484=) n.2823A= n.1902A= n.1555+4A= n.2933A= c.1159+4A= (n.1159+4A=) n.505+4A= n.3448+4A= c.1094+4A= (n.1094+4A=) c.218A= (p.Lys73=) c.647+4A= | |
| 18 | g.51076780A>C | CA402465401 | SMAD4 | c.1447+4A>C (n.1447+4A>C) c.1451A>C (p.Lys484Thr) n.2823A>C n.1902A>C n.1555+4A>C n.2933A>C c.1159+4A>C (n.1159+4A>C) n.505+4A>C n.3448+4A>C c.1094+4A>C (n.1094+4A>C) c.218A>C (p.Lys73Thr) c.647+4A>C | |
| 18 | g.51076780A>G | CA402465402 | SMAD4 | c.1447+4A>G (n.1447+4A>G) c.1451A>G (p.Lys484Arg) n.2823A>G n.1902A>G n.1555+4A>G n.2933A>G c.1159+4A>G (n.1159+4A>G) n.505+4A>G n.3448+4A>G c.1094+4A>G (n.1094+4A>G) c.218A>G (p.Lys73Arg) c.647+4A>G | ClinVar dbSNP |
| 18 | g.51076780A>T | CA8966063 | SMAD4 | c.1447+4A>T (n.1447+4A>T) c.1451A>T (p.Lys484Met) n.2823A>T n.1902A>T n.1555+4A>T n.2933A>T c.1159+4A>T (n.1159+4A>T) n.505+4A>T n.3448+4A>T c.1094+4A>T (n.1094+4A>T) c.218A>T (p.Lys73Met) c.647+4A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.51076780_51076781insTT | CA8966066 | SMAD4 | c.1447+4_1447+5insTT (n.1447+4_1447+5insTT) c.1451_1452insTT (p.Lys484AsnfsTer9) n.2823_2824insTT n.1902_1903insTT n.1555+4_1555+5insTT n.2933_2934insTT c.1159+4_1159+5insTT (n.1159+4_1159+5insTT) n.505+4_505+5insTT n.3448+4_3448+5insTT c.1094+4_1094+5insTT (n.1094+4_1094+5insTT) c.218_219insTT (p.Lys73AsnfsTer9) c.647+4_647+5insTT | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.51076780_51076781insTTG | CA8966064 | SMAD4 | c.1447+4_1447+5insTTG (n.1447+4_1447+5insTTG) c.1451_1452insTTG (p.Lys484delinsAsnTrp) n.2823_2824insTTG n.1902_1903insTTG n.1555+4_1555+5insTTG n.2933_2934insTTG c.1159+4_1159+5insTTG (n.1159+4_1159+5insTTG) n.505+4_505+5insTTG n.3448+4_3448+5insTTG c.1094+4_1094+5insTTG (n.1094+4_1094+5insTTG) c.218_219insTTG (p.Lys73delinsAsnTrp) c.647+4_647+5insTTG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.51076780_51076781insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG | CA8966065 | SMAD4 | c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG (n.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG) c.1451_1452insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG (p.Lys484AsnfsTer4) n.2823_2824insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG n.1902_1903insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG n.1555+4_1555+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG n.2933_2934insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG c.1159+4_1159+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG (n.1159+4_1159+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG) n.505+4_505+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG n.3448+4_3448+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG c.1094+4_1094+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG (n.1094+4_1094+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG) c.218_219insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG (p.Lys73AsnfsTer4) c.647+4_647+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 18 | g.51076781G>A | CA645609190 | SMAD4 | c.1447+5G>A (n.1447+5G>A) c.1452G>A (p.Lys484=) n.2824G>A n.1903G>A n.1555+5G>A n.2934G>A c.1159+5G>A (n.1159+5G>A) n.505+5G>A n.3448+5G>A c.1094+5G>A (n.1094+5G>A) c.219G>A (p.Lys73=) c.647+5G>A | dbSNP COSMIC |
| 18 | g.51076781G>C | CA402465404 | SMAD4 | c.1447+5G>C (n.1447+5G>C) c.1452G>C (p.Lys484Asn) n.2824G>C n.1903G>C n.1555+5G>C n.2934G>C c.1159+5G>C (n.1159+5G>C) n.505+5G>C n.3448+5G>C c.1094+5G>C (n.1094+5G>C) c.219G>C (p.Lys73Asn) c.647+5G>C | dbSNP |
| 18 | g.51076781G= | CA2302986269 | SMAD4 | c.1447+5G= (n.1447+5G=) c.1452G= (p.Lys484=) n.2824G= n.1903G= n.1555+5G= n.2934G= c.1159+5G= (n.1159+5G=) n.505+5G= n.3448+5G= c.1094+5G= (n.1094+5G=) c.219G= (p.Lys73=) c.647+5G= | |
| 18 | g.51076781G>T | CA402465403 | SMAD4 | c.1447+5G>T (n.1447+5G>T) c.1452G>T (p.Lys484Asn) n.2824G>T n.1903G>T n.1555+5G>T n.2934G>T c.1159+5G>T (n.1159+5G>T) n.505+5G>T n.3448+5G>T c.1094+5G>T (n.1094+5G>T) c.219G>T (p.Lys73Asn) c.647+5G>T | gnomAD v4 |
| 18 | g.51076781_51076782insGTGTTGATGACCTTCGTCGCT | CA8966067 | SMAD4 | c.1447+5_1447+6insGTGTTGATGACCTTCGTCGCT (n.1447+5_1447+6insGTGTTGATGACCTTCGTCGCT) c.1452_1453insGTGTTGATGACCTTCGTCGCT (p.Lys484_Tyr485insValLeuMetThrPheValAla) n.2824_2825insGTGTTGATGACCTTCGTCGCT n.1903_1904insGTGTTGATGACCTTCGTCGCT n.1555+5_1555+6insGTGTTGATGACCTTCGTCGCT n.2934_2935insGTGTTGATGACCTTCGTCGCT c.1159+5_1159+6insGTGTTGATGACCTTCGTCGCT (n.1159+5_1159+6insGTGTTGATGACCTTCGTCGCT) n.505+5_505+6insGTGTTGATGACCTTCGTCGCT n.3448+5_3448+6insGTGTTGATGACCTTCGTCGCT c.1094+5_1094+6insGTGTTGATGACCTTCGTCGCT (n.1094+5_1094+6insGTGTTGATGACCTTCGTCGCT) c.219_220insGTGTTGATGACCTTCGTCGCT (p.Lys73_Tyr74insValLeuMetThrPheValAla) c.647+5_647+6insGTGTTGATGACCTTCGTCGCT | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.51076782T>A | CA402465405 | SMAD4 | c.1447+6T>A (n.1447+6T>A) c.1453T>A (p.Tyr485Asn) n.2825T>A n.1904T>A n.1555+6T>A n.2935T>A c.1159+6T>A (n.1159+6T>A) n.505+6T>A n.3448+6T>A c.1094+6T>A (n.1094+6T>A) c.220T>A (p.Tyr74Asn) c.647+6T>A | dbSNP |
| 18 | g.51076782T>C | CA402465406 | SMAD4 | c.1447+6T>C (n.1447+6T>C) c.1453T>C (p.Tyr485His) n.2825T>C n.1904T>C n.1555+6T>C n.2935T>C c.1159+6T>C (n.1159+6T>C) n.505+6T>C n.3448+6T>C c.1094+6T>C (n.1094+6T>C) c.220T>C (p.Tyr74His) c.647+6T>C | dbSNP |
| 18 | g.51076782T>G | CA402465407 | SMAD4 | c.1447+6T>G (n.1447+6T>G) c.1453T>G (p.Tyr485Asp) n.2825T>G n.1904T>G n.1555+6T>G n.2935T>G c.1159+6T>G (n.1159+6T>G) n.505+6T>G n.3448+6T>G c.1094+6T>G (n.1094+6T>G) c.220T>G (p.Tyr74Asp) c.647+6T>G | |
| 18 | g.51076782T= | CA2302986270 | SMAD4 | c.1447+6T= (n.1447+6T=) c.1453T= (p.Tyr485=) n.2825T= n.1904T= n.1555+6T= n.2935T= c.1159+6T= (n.1159+6T=) n.505+6T= n.3448+6T= c.1094+6T= (n.1094+6T=) c.220T= (p.Tyr74=) c.647+6T= |