Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15218842_15218844del | CA424866933 | NBAS | c.4352_4354del c.4426+13583_4426+13585del c.877_879del c.2222_2224del c.6366_6368del (p.Glu2122del) c.512+13583_512+13585del (n.512+13583_512+13585del) c.3509_3511del n.6280+13583_6280+13585del c.6237_6239del (p.Glu2079del) c.5727_5729del (p.Glu1909del) c.4167_4169del (p.Glu1389del) c.4158_4160del (p.Glu1386del) n.6266+13583_6266+13585del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218841C>A | CA345884190 | NBAS | c.4350G>T c.4426+13581G>T c.875G>T c.2220G>T c.6364G>T (p.Glu2122Ter) c.512+13581G>T (n.512+13581G>T) c.3507G>T n.6280+13581G>T c.6235G>T (p.Glu2079Ter) c.5725G>T (p.Glu1909Ter) c.4165G>T (p.Glu1389Ter) c.4156G>T (p.Glu1386Ter) n.6266+13581G>T | |
2 | g.15218841C= | CA2490796203 | NBAS | c.4350G= c.4426+13581G= c.875G= c.2220G= c.6364G= (p.Glu2122=) c.512+13581G= (n.512+13581G=) c.3507G= n.6280+13581G= c.6235G= (p.Glu2079=) c.5725G= (p.Glu1909=) c.4165G= (p.Glu1389=) c.4156G= (p.Glu1386=) n.6266+13581G= | |
2 | g.15218841C>G | CA345884191 | NBAS | c.4350G>C c.4426+13581G>C c.875G>C c.2220G>C c.6364G>C (p.Glu2122Gln) c.512+13581G>C (n.512+13581G>C) c.3507G>C n.6280+13581G>C c.6235G>C (p.Glu2079Gln) c.5725G>C (p.Glu1909Gln) c.4165G>C (p.Glu1389Gln) c.4156G>C (p.Glu1386Gln) n.6266+13581G>C | |
2 | g.15218841C>T | CA42584362 | NBAS | c.4350G>A c.4426+13581G>A c.875G>A c.2220G>A c.6364G>A (p.Glu2122Lys) c.512+13581G>A (n.512+13581G>A) c.3507G>A n.6280+13581G>A c.6235G>A (p.Glu2079Lys) c.5725G>A (p.Glu1909Lys) c.4165G>A (p.Glu1389Lys) c.4156G>A (p.Glu1386Lys) n.6266+13581G>A | dbSNP |
2 | g.15218842C>A | CA345884203 | NBAS | c.4349G>T c.4426+13580G>T c.874G>T c.2219G>T c.6363G>T (p.Glu2121Asp) c.512+13580G>T (n.512+13580G>T) c.3506G>T n.6280+13580G>T c.6234G>T (p.Glu2078Asp) c.5724G>T (p.Glu1908Asp) c.4164G>T (p.Glu1388Asp) c.4155G>T (p.Glu1385Asp) n.6266+13580G>T | COSMIC |
2 | g.15218842C>G | CA345884207 | NBAS | c.4349G>C c.4426+13580G>C c.874G>C c.2219G>C c.6363G>C (p.Glu2121Asp) c.512+13580G>C (n.512+13580G>C) c.3506G>C n.6280+13580G>C c.6234G>C (p.Glu2078Asp) c.5724G>C (p.Glu1908Asp) c.4164G>C (p.Glu1388Asp) c.4155G>C (p.Glu1385Asp) n.6266+13580G>C | gnomAD v4 |
2 | g.15218842C>T | CA424866935 | NBAS | c.4349G>A c.4426+13580G>A c.874G>A c.2219G>A c.6363G>A (p.Glu2121=) c.512+13580G>A (n.512+13580G>A) c.3506G>A n.6280+13580G>A c.6234G>A (p.Glu2078=) c.5724G>A (p.Glu1908=) c.4164G>A (p.Glu1388=) c.4155G>A (p.Glu1385=) n.6266+13580G>A | |
2 | g.15218843T>A | CA345884215 | NBAS | c.4348A>T c.4426+13579A>T c.873A>T c.2218A>T c.6362A>T (p.Glu2121Val) c.512+13579A>T (n.512+13579A>T) c.3505A>T n.6280+13579A>T c.6233A>T (p.Glu2078Val) c.5723A>T (p.Glu1908Val) c.4163A>T (p.Glu1388Val) c.4154A>T (p.Glu1385Val) n.6266+13579A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218843T>C | CA345884224 | NBAS | c.4348A>G c.4426+13579A>G c.873A>G c.2218A>G c.6362A>G (p.Glu2121Gly) c.512+13579A>G (n.512+13579A>G) c.3505A>G n.6280+13579A>G c.6233A>G (p.Glu2078Gly) c.5723A>G (p.Glu1908Gly) c.4163A>G (p.Glu1388Gly) c.4154A>G (p.Glu1385Gly) n.6266+13579A>G | |
2 | g.15218843T>G | CA345884227 | NBAS | c.4348A>C c.4426+13579A>C c.873A>C c.2218A>C c.6362A>C (p.Glu2121Ala) c.512+13579A>C (n.512+13579A>C) c.3505A>C n.6280+13579A>C c.6233A>C (p.Glu2078Ala) c.5723A>C (p.Glu1908Ala) c.4163A>C (p.Glu1388Ala) c.4154A>C (p.Glu1385Ala) n.6266+13579A>C | |
2 | g.15218843T= | CA2490796204 | NBAS | c.4348A= c.4426+13579A= c.873A= c.2218A= c.6362A= (p.Glu2121=) c.512+13579A= (n.512+13579A=) c.3505A= n.6280+13579A= c.6233A= (p.Glu2078=) c.5723A= (p.Glu1908=) c.4163A= (p.Glu1388=) c.4154A= (p.Glu1385=) n.6266+13579A= | |
2 | g.15218847_15218850del | CA2657930724 | NBAS | c.4345_4348del c.4426+13576_4426+13579del c.870_873del c.2215_2218del c.6359_6362del (p.Thr2120ArgfsTer25) c.512+13576_512+13579del (n.512+13576_512+13579del) c.3502_3505del n.6280+13576_6280+13579del c.6230_6233del (p.Thr2077ArgfsTer25) c.5720_5723del (p.Thr1907ArgfsTer25) c.4160_4163del (p.Thr1387ArgfsTer25) c.4151_4154del (p.Thr1384ArgfsTer25) n.6266+13576_6266+13579del | gnomAD v4 |
2 | g.15218844C>A | CA345884231 | NBAS | c.4347G>T c.4426+13578G>T c.872G>T c.2217G>T c.6361G>T (p.Glu2121Ter) c.512+13578G>T (n.512+13578G>T) c.3504G>T n.6280+13578G>T c.6232G>T (p.Glu2078Ter) c.5722G>T (p.Glu1908Ter) c.4162G>T (p.Glu1388Ter) c.4153G>T (p.Glu1385Ter) n.6266+13578G>T | |
2 | g.15218844C>G | CA345884235 | NBAS | c.4347G>C c.4426+13578G>C c.872G>C c.2217G>C c.6361G>C (p.Glu2121Gln) c.512+13578G>C (n.512+13578G>C) c.3504G>C n.6280+13578G>C c.6232G>C (p.Glu2078Gln) c.5722G>C (p.Glu1908Gln) c.4162G>C (p.Glu1388Gln) c.4153G>C (p.Glu1385Gln) n.6266+13578G>C | COSMIC |
2 | g.15218844C>T | CA345884247 | NBAS | c.4347G>A c.4426+13578G>A c.872G>A c.2217G>A c.6361G>A (p.Glu2121Lys) c.512+13578G>A (n.512+13578G>A) c.3504G>A n.6280+13578G>A c.6232G>A (p.Glu2078Lys) c.5722G>A (p.Glu1908Lys) c.4162G>A (p.Glu1388Lys) c.4153G>A (p.Glu1385Lys) n.6266+13578G>A | |
2 | g.15218845A= | CA2490796205 | NBAS | c.4346T= c.4426+13577T= c.871T= c.2216T= c.6360T= (p.Thr2120=) c.512+13577T= (n.512+13577T=) c.3503T= n.6280+13577T= c.6231T= (p.Thr2077=) c.5721T= (p.Thr1907=) c.4161T= (p.Thr1387=) c.4152T= (p.Thr1384=) n.6266+13577T= | |
2 | g.15218845A>C | CA424866936 | NBAS | c.4346T>G c.4426+13577T>G c.871T>G c.2216T>G c.6360T>G (p.Thr2120=) c.512+13577T>G (n.512+13577T>G) c.3503T>G n.6280+13577T>G c.6231T>G (p.Thr2077=) c.5721T>G (p.Thr1907=) c.4161T>G (p.Thr1387=) c.4152T>G (p.Thr1384=) n.6266+13577T>G | |
2 | g.15218845A>G | CA424866937 | NBAS | c.4346T>C c.4426+13577T>C c.871T>C c.2216T>C c.6360T>C (p.Thr2120=) c.512+13577T>C (n.512+13577T>C) c.3503T>C n.6280+13577T>C c.6231T>C (p.Thr2077=) c.5721T>C (p.Thr1907=) c.4161T>C (p.Thr1387=) c.4152T>C (p.Thr1384=) n.6266+13577T>C | |
2 | g.15218845A>T | CA424866938 | NBAS | c.4346T>A c.4426+13577T>A c.871T>A c.2216T>A c.6360T>A (p.Thr2120=) c.512+13577T>A (n.512+13577T>A) c.3503T>A n.6280+13577T>A c.6231T>A (p.Thr2077=) c.5721T>A (p.Thr1907=) c.4161T>A (p.Thr1387=) c.4152T>A (p.Thr1384=) n.6266+13577T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218846G>A | CA345884259 | NBAS | c.4345C>T c.4426+13576C>T c.870C>T c.2215C>T c.6359C>T (p.Thr2120Ile) c.512+13576C>T (n.512+13576C>T) c.3502C>T n.6280+13576C>T c.6230C>T (p.Thr2077Ile) c.5720C>T (p.Thr1907Ile) c.4160C>T (p.Thr1387Ile) c.4151C>T (p.Thr1384Ile) n.6266+13576C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218846G>C | CA345884267 | NBAS | c.4345C>G c.4426+13576C>G c.870C>G c.2215C>G c.6359C>G (p.Thr2120Ser) c.512+13576C>G (n.512+13576C>G) c.3502C>G n.6280+13576C>G c.6230C>G (p.Thr2077Ser) c.5720C>G (p.Thr1907Ser) c.4160C>G (p.Thr1387Ser) c.4151C>G (p.Thr1384Ser) n.6266+13576C>G | |
2 | g.15218846G= | CA2490796206 | NBAS | c.4345C= c.4426+13576C= c.870C= c.2215C= c.6359C= (p.Thr2120=) c.512+13576C= (n.512+13576C=) c.3502C= n.6280+13576C= c.6230C= (p.Thr2077=) c.5720C= (p.Thr1907=) c.4160C= (p.Thr1387=) c.4151C= (p.Thr1384=) n.6266+13576C= | |
2 | g.15218846G>T | CA345884271 | NBAS | c.4345C>A c.4426+13576C>A c.870C>A c.2215C>A c.6359C>A (p.Thr2120Asn) c.512+13576C>A (n.512+13576C>A) c.3502C>A n.6280+13576C>A c.6230C>A (p.Thr2077Asn) c.5720C>A (p.Thr1907Asn) c.4160C>A (p.Thr1387Asn) c.4151C>A (p.Thr1384Asn) n.6266+13576C>A | |
2 | g.15218847T>A | CA345884285 | NBAS | c.4344A>T c.4426+13575A>T c.869A>T c.2214A>T c.6358A>T (p.Thr2120Ser) c.512+13575A>T (n.512+13575A>T) c.3501A>T n.6280+13575A>T c.6229A>T (p.Thr2077Ser) c.5719A>T (p.Thr1907Ser) c.4159A>T (p.Thr1387Ser) c.4150A>T (p.Thr1384Ser) n.6266+13575A>T | |
2 | g.15218847T>C | CA345884281 | NBAS | c.4344A>G c.4426+13575A>G c.869A>G c.2214A>G c.6358A>G (p.Thr2120Ala) c.512+13575A>G (n.512+13575A>G) c.3501A>G n.6280+13575A>G c.6229A>G (p.Thr2077Ala) c.5719A>G (p.Thr1907Ala) c.4159A>G (p.Thr1387Ala) c.4150A>G (p.Thr1384Ala) n.6266+13575A>G | |
2 | g.15218847T>G | CA345884275 | NBAS | c.4344A>C c.4426+13575A>C c.869A>C c.2214A>C c.6358A>C (p.Thr2120Pro) c.512+13575A>C (n.512+13575A>C) c.3501A>C n.6280+13575A>C c.6229A>C (p.Thr2077Pro) c.5719A>C (p.Thr1907Pro) c.4159A>C (p.Thr1387Pro) c.4150A>C (p.Thr1384Pro) n.6266+13575A>C | |
2 | g.15218848C>A | CA424866939 | NBAS | c.4343G>T c.4426+13574G>T c.868G>T c.2213G>T c.6357G>T (p.Leu2119=) c.512+13574G>T (n.512+13574G>T) c.3500G>T n.6280+13574G>T c.6228G>T (p.Leu2076=) c.5718G>T (p.Leu1906=) c.4158G>T (p.Leu1386=) c.4149G>T (p.Leu1383=) n.6266+13574G>T | |
2 | g.15218848C= | CA2490796207 | NBAS | c.4343G= c.4426+13574G= c.868G= c.2213G= c.6357G= (p.Leu2119=) c.512+13574G= (n.512+13574G=) c.3500G= n.6280+13574G= c.6228G= (p.Leu2076=) c.5718G= (p.Leu1906=) c.4158G= (p.Leu1386=) c.4149G= (p.Leu1383=) n.6266+13574G= | |
2 | g.15218848C>G | CA424866940 | NBAS | c.4343G>C c.4426+13574G>C c.868G>C c.2213G>C c.6357G>C (p.Leu2119=) c.512+13574G>C (n.512+13574G>C) c.3500G>C n.6280+13574G>C c.6228G>C (p.Leu2076=) c.5718G>C (p.Leu1906=) c.4158G>C (p.Leu1386=) c.4149G>C (p.Leu1383=) n.6266+13574G>C | gnomAD v4 |
2 | g.15218848C>T | CA424866941 | NBAS | c.4343G>A c.4426+13574G>A c.868G>A c.2213G>A c.6357G>A (p.Leu2119=) c.512+13574G>A (n.512+13574G>A) c.3500G>A n.6280+13574G>A c.6228G>A (p.Leu2076=) c.5718G>A (p.Leu1906=) c.4158G>A (p.Leu1386=) c.4149G>A (p.Leu1383=) n.6266+13574G>A | dbSNP |
2 | g.15218849A= | CA2490796208 | NBAS | c.4342T= c.4426+13573T= c.867T= c.2212T= c.6356T= (p.Leu2119=) c.512+13573T= (n.512+13573T=) c.3499T= n.6280+13573T= c.6227T= (p.Leu2076=) c.5717T= (p.Leu1906=) c.4157T= (p.Leu1386=) c.4148T= (p.Leu1383=) n.6266+13573T= | |
2 | g.15218849A>C | CA345884290 | NBAS | c.4342T>G c.4426+13573T>G c.867T>G c.2212T>G c.6356T>G (p.Leu2119Arg) c.512+13573T>G (n.512+13573T>G) c.3499T>G n.6280+13573T>G c.6227T>G (p.Leu2076Arg) c.5717T>G (p.Leu1906Arg) c.4157T>G (p.Leu1386Arg) c.4148T>G (p.Leu1383Arg) n.6266+13573T>G | ClinVar dbSNP gnomAD v4 |
2 | g.15218849A>G | CA345884305 | NBAS | c.4342T>C c.4426+13573T>C c.867T>C c.2212T>C c.6356T>C (p.Leu2119Pro) c.512+13573T>C (n.512+13573T>C) c.3499T>C n.6280+13573T>C c.6227T>C (p.Leu2076Pro) c.5717T>C (p.Leu1906Pro) c.4157T>C (p.Leu1386Pro) c.4148T>C (p.Leu1383Pro) n.6266+13573T>C | |
2 | g.15218849A>T | CA345884297 | NBAS | c.4342T>A c.4426+13573T>A c.867T>A c.2212T>A c.6356T>A (p.Leu2119Gln) c.512+13573T>A (n.512+13573T>A) c.3499T>A n.6280+13573T>A c.6227T>A (p.Leu2076Gln) c.5717T>A (p.Leu1906Gln) c.4157T>A (p.Leu1386Gln) c.4148T>A (p.Leu1383Gln) n.6266+13573T>A | |
2 | g.15218850G>A | CA1535027 | NBAS | c.4341C>T c.4426+13572C>T c.866C>T c.2211C>T c.6355C>T (p.Leu2119=) c.512+13572C>T (n.512+13572C>T) c.3498C>T n.6280+13572C>T c.6226C>T (p.Leu2076=) c.5716C>T (p.Leu1906=) c.4156C>T (p.Leu1386=) c.4147C>T (p.Leu1383=) n.6266+13572C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218850G>C | CA1535028 | NBAS | c.4341C>G c.4426+13572C>G c.866C>G c.2211C>G c.6355C>G (p.Leu2119Val) c.512+13572C>G (n.512+13572C>G) c.3498C>G n.6280+13572C>G c.6226C>G (p.Leu2076Val) c.5716C>G (p.Leu1906Val) c.4156C>G (p.Leu1386Val) c.4147C>G (p.Leu1383Val) n.6266+13572C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218850G= | CA2490796209 | NBAS | c.4341C= c.4426+13572C= c.866C= c.2211C= c.6355C= (p.Leu2119=) c.512+13572C= (n.512+13572C=) c.3498C= n.6280+13572C= c.6226C= (p.Leu2076=) c.5716C= (p.Leu1906=) c.4156C= (p.Leu1386=) c.4147C= (p.Leu1383=) n.6266+13572C= | |
2 | g.15218850G>T | CA345884310 | NBAS | c.4341C>A c.4426+13572C>A c.866C>A c.2211C>A c.6355C>A (p.Leu2119Met) c.512+13572C>A (n.512+13572C>A) c.3498C>A n.6280+13572C>A c.6226C>A (p.Leu2076Met) c.5716C>A (p.Leu1906Met) c.4156C>A (p.Leu1386Met) c.4147C>A (p.Leu1383Met) n.6266+13572C>A | |
2 | g.15218851G>A | CA1535029 | NBAS | c.4340C>T c.4426+13571C>T c.865C>T c.2210C>T c.6354C>T (p.His2118=) c.512+13571C>T (n.512+13571C>T) c.3497C>T n.6280+13571C>T c.6225C>T (p.His2075=) c.5715C>T (p.His1905=) c.4155C>T (p.His1385=) c.4146C>T (p.His1382=) n.6266+13571C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218851G>C | CA345884329 | NBAS | c.4340C>G c.4426+13571C>G c.865C>G c.2210C>G c.6354C>G (p.His2118Gln) c.512+13571C>G (n.512+13571C>G) c.3497C>G n.6280+13571C>G c.6225C>G (p.His2075Gln) c.5715C>G (p.His1905Gln) c.4155C>G (p.His1385Gln) c.4146C>G (p.His1382Gln) n.6266+13571C>G | |
2 | g.15218851G= | CA2490796210 | NBAS | c.4340C= c.4426+13571C= c.865C= c.2210C= c.6354C= (p.His2118=) c.512+13571C= (n.512+13571C=) c.3497C= n.6280+13571C= c.6225C= (p.His2075=) c.5715C= (p.His1905=) c.4155C= (p.His1385=) c.4146C= (p.His1382=) n.6266+13571C= | |
2 | g.15218851G>T | CA345884332 | NBAS | c.4340C>A c.4426+13571C>A c.865C>A c.2210C>A c.6354C>A (p.His2118Gln) c.512+13571C>A (n.512+13571C>A) c.3497C>A n.6280+13571C>A c.6225C>A (p.His2075Gln) c.5715C>A (p.His1905Gln) c.4155C>A (p.His1385Gln) c.4146C>A (p.His1382Gln) n.6266+13571C>A | |
2 | g.15218852T>A | CA345884335 | NBAS | c.4339A>T c.4426+13570A>T c.864A>T c.2209A>T c.6353A>T (p.His2118Leu) c.512+13570A>T (n.512+13570A>T) c.3496A>T n.6280+13570A>T c.6224A>T (p.His2075Leu) c.5714A>T (p.His1905Leu) c.4154A>T (p.His1385Leu) c.4145A>T (p.His1382Leu) n.6266+13570A>T | |
2 | g.15218852T>C | CA345884350 | NBAS | c.4339A>G c.4426+13570A>G c.864A>G c.2209A>G c.6353A>G (p.His2118Arg) c.512+13570A>G (n.512+13570A>G) c.3496A>G n.6280+13570A>G c.6224A>G (p.His2075Arg) c.5714A>G (p.His1905Arg) c.4154A>G (p.His1385Arg) c.4145A>G (p.His1382Arg) n.6266+13570A>G | |
2 | g.15218852T>G | CA345884354 | NBAS | c.4339A>C c.4426+13570A>C c.864A>C c.2209A>C c.6353A>C (p.His2118Pro) c.512+13570A>C (n.512+13570A>C) c.3496A>C n.6280+13570A>C c.6224A>C (p.His2075Pro) c.5714A>C (p.His1905Pro) c.4154A>C (p.His1385Pro) c.4145A>C (p.His1382Pro) n.6266+13570A>C | |
2 | g.15218853G>A | CA345884357 | NBAS | c.4338C>T c.4426+13569C>T c.863C>T c.2208C>T c.6352C>T (p.His2118Tyr) c.512+13569C>T (n.512+13569C>T) c.3495C>T n.6280+13569C>T c.6223C>T (p.His2075Tyr) c.5713C>T (p.His1905Tyr) c.4153C>T (p.His1385Tyr) c.4144C>T (p.His1382Tyr) n.6266+13569C>T | ClinVar |
2 | g.15218853G>C | CA345884359 | NBAS | c.4338C>G c.4426+13569C>G c.863C>G c.2208C>G c.6352C>G (p.His2118Asp) c.512+13569C>G (n.512+13569C>G) c.3495C>G n.6280+13569C>G c.6223C>G (p.His2075Asp) c.5713C>G (p.His1905Asp) c.4153C>G (p.His1385Asp) c.4144C>G (p.His1382Asp) n.6266+13569C>G | |
2 | g.15218853G>T | CA345884361 | NBAS | c.4338C>A c.4426+13569C>A c.863C>A c.2208C>A c.6352C>A (p.His2118Asn) c.512+13569C>A (n.512+13569C>A) c.3495C>A n.6280+13569C>A c.6223C>A (p.His2075Asn) c.5713C>A (p.His1905Asn) c.4153C>A (p.His1385Asn) c.4144C>A (p.His1382Asn) n.6266+13569C>A | |
2 | g.15218854A>C | CA345884363 | NBAS | c.4337T>G c.4426+13568T>G c.862T>G c.2207T>G c.6351T>G (p.Phe2117Leu) c.512+13568T>G (n.512+13568T>G) c.3494T>G n.6280+13568T>G c.6222T>G (p.Phe2074Leu) c.5712T>G (p.Phe1904Leu) c.4152T>G (p.Phe1384Leu) c.4143T>G (p.Phe1381Leu) n.6266+13568T>G | |
2 | g.15218854A>G | CA424866942 | NBAS | c.4337T>C c.4426+13568T>C c.862T>C c.2207T>C c.6351T>C (p.Phe2117=) c.512+13568T>C (n.512+13568T>C) c.3494T>C n.6280+13568T>C c.6222T>C (p.Phe2074=) c.5712T>C (p.Phe1904=) c.4152T>C (p.Phe1384=) c.4143T>C (p.Phe1381=) n.6266+13568T>C | |
2 | g.15218854A>T | CA345884367 | NBAS | c.4337T>A c.4426+13568T>A c.862T>A c.2207T>A c.6351T>A (p.Phe2117Leu) c.512+13568T>A (n.512+13568T>A) c.3494T>A n.6280+13568T>A c.6222T>A (p.Phe2074Leu) c.5712T>A (p.Phe1904Leu) c.4152T>A (p.Phe1384Leu) c.4143T>A (p.Phe1381Leu) n.6266+13568T>A | |
2 | g.15218855A= | CA2490796211 | NBAS | c.4336T= c.4426+13567T= c.861T= c.2206T= c.6350T= (p.Phe2117=) c.512+13567T= (n.512+13567T=) c.3493T= n.6280+13567T= c.6221T= (p.Phe2074=) c.5711T= (p.Phe1904=) c.4151T= (p.Phe1384=) c.4142T= (p.Phe1381=) n.6266+13567T= | |
2 | g.15218855A>C | CA345884377 | NBAS | c.4336T>G c.4426+13567T>G c.861T>G c.2206T>G c.6350T>G (p.Phe2117Cys) c.512+13567T>G (n.512+13567T>G) c.3493T>G n.6280+13567T>G c.6221T>G (p.Phe2074Cys) c.5711T>G (p.Phe1904Cys) c.4151T>G (p.Phe1384Cys) c.4142T>G (p.Phe1381Cys) n.6266+13567T>G | |
2 | g.15218855A>G | CA345884380 | NBAS | c.4336T>C c.4426+13567T>C c.861T>C c.2206T>C c.6350T>C (p.Phe2117Ser) c.512+13567T>C (n.512+13567T>C) c.3493T>C n.6280+13567T>C c.6221T>C (p.Phe2074Ser) c.5711T>C (p.Phe1904Ser) c.4151T>C (p.Phe1384Ser) c.4142T>C (p.Phe1381Ser) n.6266+13567T>C | dbSNP |
2 | g.15218855A>T | CA345884387 | NBAS | c.4336T>A c.4426+13567T>A c.861T>A c.2206T>A c.6350T>A (p.Phe2117Tyr) c.512+13567T>A (n.512+13567T>A) c.3493T>A n.6280+13567T>A c.6221T>A (p.Phe2074Tyr) c.5711T>A (p.Phe1904Tyr) c.4151T>A (p.Phe1384Tyr) c.4142T>A (p.Phe1381Tyr) n.6266+13567T>A | |
2 | g.15218856A>C | CA345884390 | NBAS | c.4335T>G c.4426+13566T>G c.860T>G c.2205T>G c.6349T>G (p.Phe2117Val) c.512+13566T>G (n.512+13566T>G) c.3492T>G n.6280+13566T>G c.6220T>G (p.Phe2074Val) c.5710T>G (p.Phe1904Val) c.4150T>G (p.Phe1384Val) c.4141T>G (p.Phe1381Val) n.6266+13566T>G | |
2 | g.15218856A>G | CA345884393 | NBAS | c.4335T>C c.4426+13566T>C c.860T>C c.2205T>C c.6349T>C (p.Phe2117Leu) c.512+13566T>C (n.512+13566T>C) c.3492T>C n.6280+13566T>C c.6220T>C (p.Phe2074Leu) c.5710T>C (p.Phe1904Leu) c.4150T>C (p.Phe1384Leu) c.4141T>C (p.Phe1381Leu) n.6266+13566T>C | |
2 | g.15218856A>T | CA345884395 | NBAS | c.4335T>A c.4426+13566T>A c.860T>A c.2205T>A c.6349T>A (p.Phe2117Ile) c.512+13566T>A (n.512+13566T>A) c.3492T>A n.6280+13566T>A c.6220T>A (p.Phe2074Ile) c.5710T>A (p.Phe1904Ile) c.4150T>A (p.Phe1384Ile) c.4141T>A (p.Phe1381Ile) n.6266+13566T>A | |
2 | g.15218857T>A | CA424866943 | NBAS | c.4334A>T c.4426+13565A>T c.859A>T c.2204A>T c.6348A>T (p.Ser2116=) c.512+13565A>T (n.512+13565A>T) c.3491A>T n.6280+13565A>T c.6219A>T (p.Ser2073=) c.5709A>T (p.Ser1903=) c.4149A>T (p.Ser1383=) c.4140A>T (p.Ser1380=) n.6266+13565A>T | |
2 | g.15218857T>C | CA424866944 | NBAS | c.4334A>G c.4426+13565A>G c.859A>G c.2204A>G c.6348A>G (p.Ser2116=) c.512+13565A>G (n.512+13565A>G) c.3491A>G n.6280+13565A>G c.6219A>G (p.Ser2073=) c.5709A>G (p.Ser1903=) c.4149A>G (p.Ser1383=) c.4140A>G (p.Ser1380=) n.6266+13565A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218857T>G | CA424866945 | NBAS | c.4334A>C c.4426+13565A>C c.859A>C c.2204A>C c.6348A>C (p.Ser2116=) c.512+13565A>C (n.512+13565A>C) c.3491A>C n.6280+13565A>C c.6219A>C (p.Ser2073=) c.5709A>C (p.Ser1903=) c.4149A>C (p.Ser1383=) c.4140A>C (p.Ser1380=) n.6266+13565A>C | |
2 | g.15218857T= | CA2490796212 | NBAS | c.4334A= c.4426+13565A= c.859A= c.2204A= c.6348A= (p.Ser2116=) c.512+13565A= (n.512+13565A=) c.3491A= n.6280+13565A= c.6219A= (p.Ser2073=) c.5709A= (p.Ser1903=) c.4149A= (p.Ser1383=) c.4140A= (p.Ser1380=) n.6266+13565A= | |
2 | g.15218858G>A | CA345884402 | NBAS | c.4333C>T c.4426+13564C>T c.858C>T c.2203C>T c.6347C>T (p.Ser2116Leu) c.512+13564C>T (n.512+13564C>T) c.3490C>T n.6280+13564C>T c.6218C>T (p.Ser2073Leu) c.5708C>T (p.Ser1903Leu) c.4148C>T (p.Ser1383Leu) c.4139C>T (p.Ser1380Leu) n.6266+13564C>T | dbSNP gnomAD v2 |
2 | g.15218858G>C | CA345884404 | NBAS | c.4333C>G c.4426+13564C>G c.858C>G c.2203C>G c.6347C>G (p.Ser2116Ter) c.512+13564C>G (n.512+13564C>G) c.3490C>G n.6280+13564C>G c.6218C>G (p.Ser2073Ter) c.5708C>G (p.Ser1903Ter) c.4148C>G (p.Ser1383Ter) c.4139C>G (p.Ser1380Ter) n.6266+13564C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218858G= | CA2490796213 | NBAS | c.4333C= c.4426+13564C= c.858C= c.2203C= c.6347C= (p.Ser2116=) c.512+13564C= (n.512+13564C=) c.3490C= n.6280+13564C= c.6218C= (p.Ser2073=) c.5708C= (p.Ser1903=) c.4148C= (p.Ser1383=) c.4139C= (p.Ser1380=) n.6266+13564C= | |
2 | g.15218858G>T | CA345884406 | NBAS | c.4333C>A c.4426+13564C>A c.858C>A c.2203C>A c.6347C>A (p.Ser2116Ter) c.512+13564C>A (n.512+13564C>A) c.3490C>A n.6280+13564C>A c.6218C>A (p.Ser2073Ter) c.5708C>A (p.Ser1903Ter) c.4148C>A (p.Ser1383Ter) c.4139C>A (p.Ser1380Ter) n.6266+13564C>A | |
2 | g.15218859A>C | CA345884408 | NBAS | c.4332T>G c.4426+13563T>G c.857T>G c.2202T>G c.6346T>G (p.Ser2116Ala) c.512+13563T>G (n.512+13563T>G) c.3489T>G n.6280+13563T>G c.6217T>G (p.Ser2073Ala) c.5707T>G (p.Ser1903Ala) c.4147T>G (p.Ser1383Ala) c.4138T>G (p.Ser1380Ala) n.6266+13563T>G | |
2 | g.15218859A>G | CA345884410 | NBAS | c.4332T>C c.4426+13563T>C c.857T>C c.2202T>C c.6346T>C (p.Ser2116Pro) c.512+13563T>C (n.512+13563T>C) c.3489T>C n.6280+13563T>C c.6217T>C (p.Ser2073Pro) c.5707T>C (p.Ser1903Pro) c.4147T>C (p.Ser1383Pro) c.4138T>C (p.Ser1380Pro) n.6266+13563T>C | |
2 | g.15218859A>T | CA345884413 | NBAS | c.4332T>A c.4426+13563T>A c.857T>A c.2202T>A c.6346T>A (p.Ser2116Thr) c.512+13563T>A (n.512+13563T>A) c.3489T>A n.6280+13563T>A c.6217T>A (p.Ser2073Thr) c.5707T>A (p.Ser1903Thr) c.4147T>A (p.Ser1383Thr) c.4138T>A (p.Ser1380Thr) n.6266+13563T>A | |
2 | g.15218860T>A | CA345884422 | NBAS | c.4331A>T c.4426+13562A>T c.856A>T c.2201A>T c.6345A>T (p.Gln2115His) c.512+13562A>T (n.512+13562A>T) c.3488A>T n.6280+13562A>T c.6216A>T (p.Gln2072His) c.5706A>T (p.Gln1902His) c.4146A>T (p.Gln1382His) c.4137A>T (p.Gln1379His) n.6266+13562A>T | |
2 | g.15218860T>C | CA1535030 | NBAS | c.4331A>G c.4426+13562A>G c.856A>G c.2201A>G c.6345A>G (p.Gln2115=) c.512+13562A>G (n.512+13562A>G) c.3488A>G n.6280+13562A>G c.6216A>G (p.Gln2072=) c.5706A>G (p.Gln1902=) c.4146A>G (p.Gln1382=) c.4137A>G (p.Gln1379=) n.6266+13562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218860T>G | CA345884425 | NBAS | c.4331A>C c.4426+13562A>C c.856A>C c.2201A>C c.6345A>C (p.Gln2115His) c.512+13562A>C (n.512+13562A>C) c.3488A>C n.6280+13562A>C c.6216A>C (p.Gln2072His) c.5706A>C (p.Gln1902His) c.4146A>C (p.Gln1382His) c.4137A>C (p.Gln1379His) n.6266+13562A>C | |
2 | g.15218860T= | CA2490796214 | NBAS | c.4331A= c.4426+13562A= c.856A= c.2201A= c.6345A= (p.Gln2115=) c.512+13562A= (n.512+13562A=) c.3488A= n.6280+13562A= c.6216A= (p.Gln2072=) c.5706A= (p.Gln1902=) c.4146A= (p.Gln1382=) c.4137A= (p.Gln1379=) n.6266+13562A= | |
2 | g.15218861T>A | CA345884435 | NBAS | c.4330A>T c.4426+13561A>T c.855A>T c.2200A>T c.6344A>T (p.Gln2115Leu) c.512+13561A>T (n.512+13561A>T) c.3487A>T n.6280+13561A>T c.6215A>T (p.Gln2072Leu) c.5705A>T (p.Gln1902Leu) c.4145A>T (p.Gln1382Leu) c.4136A>T (p.Gln1379Leu) n.6266+13561A>T | |
2 | g.15218861T>C | CA42584389 | NBAS | c.4330A>G c.4426+13561A>G c.855A>G c.2200A>G c.6344A>G (p.Gln2115Arg) c.512+13561A>G (n.512+13561A>G) c.3487A>G n.6280+13561A>G c.6215A>G (p.Gln2072Arg) c.5705A>G (p.Gln1902Arg) c.4145A>G (p.Gln1382Arg) c.4136A>G (p.Gln1379Arg) n.6266+13561A>G | dbSNP gnomAD v4 |
2 | g.15218861T>G | CA345884440 | NBAS | c.4330A>C c.4426+13561A>C c.855A>C c.2200A>C c.6344A>C (p.Gln2115Pro) c.512+13561A>C (n.512+13561A>C) c.3487A>C n.6280+13561A>C c.6215A>C (p.Gln2072Pro) c.5705A>C (p.Gln1902Pro) c.4145A>C (p.Gln1382Pro) c.4136A>C (p.Gln1379Pro) n.6266+13561A>C | |
2 | g.15218861T= | CA2490796215 | NBAS | c.4330A= c.4426+13561A= c.855A= c.2200A= c.6344A= (p.Gln2115=) c.512+13561A= (n.512+13561A=) c.3487A= n.6280+13561A= c.6215A= (p.Gln2072=) c.5705A= (p.Gln1902=) c.4145A= (p.Gln1382=) c.4136A= (p.Gln1379=) n.6266+13561A= | |
2 | g.15218862G>A | CA345884441 | NBAS | c.4329C>T c.4426+13560C>T c.854C>T c.2199C>T c.6343C>T (p.Gln2115Ter) c.512+13560C>T (n.512+13560C>T) c.3486C>T n.6280+13560C>T c.6214C>T (p.Gln2072Ter) c.5704C>T (p.Gln1902Ter) c.4144C>T (p.Gln1382Ter) c.4135C>T (p.Gln1379Ter) n.6266+13560C>T | |
2 | g.15218862G>C | CA345884442 | NBAS | c.4329C>G c.4426+13560C>G c.854C>G c.2199C>G c.6343C>G (p.Gln2115Glu) c.512+13560C>G (n.512+13560C>G) c.3486C>G n.6280+13560C>G c.6214C>G (p.Gln2072Glu) c.5704C>G (p.Gln1902Glu) c.4144C>G (p.Gln1382Glu) c.4135C>G (p.Gln1379Glu) n.6266+13560C>G | |
2 | g.15218862G>T | CA345884443 | NBAS | c.4329C>A c.4426+13560C>A c.854C>A c.2199C>A c.6343C>A (p.Gln2115Lys) c.512+13560C>A (n.512+13560C>A) c.3486C>A n.6280+13560C>A c.6214C>A (p.Gln2072Lys) c.5704C>A (p.Gln1902Lys) c.4144C>A (p.Gln1382Lys) c.4135C>A (p.Gln1379Lys) n.6266+13560C>A | COSMIC |
2 | g.15218863C>A | CA1535031 | NBAS | c.4328G>T c.4426+13559G>T c.853G>T c.2198G>T c.6342G>T (p.Gly2114=) c.512+13559G>T (n.512+13559G>T) c.3485G>T n.6280+13559G>T c.6213G>T (p.Gly2071=) c.5703G>T (p.Gly1901=) c.4143G>T (p.Gly1381=) c.4134G>T (p.Gly1378=) n.6266+13559G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218863C= | CA2490796216 | NBAS | c.4328G= c.4426+13559G= c.853G= c.2198G= c.6342G= (p.Gly2114=) c.512+13559G= (n.512+13559G=) c.3485G= n.6280+13559G= c.6213G= (p.Gly2071=) c.5703G= (p.Gly1901=) c.4143G= (p.Gly1381=) c.4134G= (p.Gly1378=) n.6266+13559G= | |
2 | g.15218863C>G | CA424866946 | NBAS | c.4328G>C c.4426+13559G>C c.853G>C c.2198G>C c.6342G>C (p.Gly2114=) c.512+13559G>C (n.512+13559G>C) c.3485G>C n.6280+13559G>C c.6213G>C (p.Gly2071=) c.5703G>C (p.Gly1901=) c.4143G>C (p.Gly1381=) c.4134G>C (p.Gly1378=) n.6266+13559G>C | |
2 | g.15218863C>T | CA424866947 | NBAS | c.4328G>A c.4426+13559G>A c.853G>A c.2198G>A c.6342G>A (p.Gly2114=) c.512+13559G>A (n.512+13559G>A) c.3485G>A n.6280+13559G>A c.6213G>A (p.Gly2071=) c.5703G>A (p.Gly1901=) c.4143G>A (p.Gly1381=) c.4134G>A (p.Gly1378=) n.6266+13559G>A | gnomAD v4 |
2 | g.15218864C>A | CA345884452 | NBAS | c.4327G>T c.4426+13558G>T c.852G>T c.2197G>T c.6341G>T (p.Gly2114Val) c.512+13558G>T (n.512+13558G>T) c.3484G>T n.6280+13558G>T c.6212G>T (p.Gly2071Val) c.5702G>T (p.Gly1901Val) c.4142G>T (p.Gly1381Val) c.4133G>T (p.Gly1378Val) n.6266+13558G>T | |
2 | g.15218864C>G | CA345884455 | NBAS | c.4327G>C c.4426+13558G>C c.852G>C c.2197G>C c.6341G>C (p.Gly2114Ala) c.512+13558G>C (n.512+13558G>C) c.3484G>C n.6280+13558G>C c.6212G>C (p.Gly2071Ala) c.5702G>C (p.Gly1901Ala) c.4142G>C (p.Gly1381Ala) c.4133G>C (p.Gly1378Ala) n.6266+13558G>C | |
2 | g.15218864C>T | CA345884486 | NBAS | c.4327G>A c.4426+13558G>A c.852G>A c.2197G>A c.6341G>A (p.Gly2114Glu) c.512+13558G>A (n.512+13558G>A) c.3484G>A n.6280+13558G>A c.6212G>A (p.Gly2071Glu) c.5702G>A (p.Gly1901Glu) c.4142G>A (p.Gly1381Glu) c.4133G>A (p.Gly1378Glu) n.6266+13558G>A | gnomAD v4 |
2 | g.15218865C>A | CA345884491 | NBAS | c.4326G>T c.4426+13557G>T c.851G>T c.2196G>T c.6340G>T (p.Gly2114Trp) c.512+13557G>T (n.512+13557G>T) c.3483G>T n.6280+13557G>T c.6211G>T (p.Gly2071Trp) c.5701G>T (p.Gly1901Trp) c.4141G>T (p.Gly1381Trp) c.4132G>T (p.Gly1378Trp) n.6266+13557G>T | |
2 | g.15218865C= | CA2490796217 | NBAS | c.4326G= c.4426+13557G= c.851G= c.2196G= c.6340G= (p.Gly2114=) c.512+13557G= (n.512+13557G=) c.3483G= n.6280+13557G= c.6211G= (p.Gly2071=) c.5701G= (p.Gly1901=) c.4141G= (p.Gly1381=) c.4132G= (p.Gly1378=) n.6266+13557G= | |
2 | g.15218865C>G | CA345884498 | NBAS | c.4326G>C c.4426+13557G>C c.851G>C c.2196G>C c.6340G>C (p.Gly2114Arg) c.512+13557G>C (n.512+13557G>C) c.3483G>C n.6280+13557G>C c.6211G>C (p.Gly2071Arg) c.5701G>C (p.Gly1901Arg) c.4141G>C (p.Gly1381Arg) c.4132G>C (p.Gly1378Arg) n.6266+13557G>C | ClinVar dbSNP gnomAD v2 |
2 | g.15218865C>T | CA345884507 | NBAS | c.4326G>A c.4426+13557G>A c.851G>A c.2196G>A c.6340G>A (p.Gly2114Arg) c.512+13557G>A (n.512+13557G>A) c.3483G>A n.6280+13557G>A c.6211G>A (p.Gly2071Arg) c.5701G>A (p.Gly1901Arg) c.4141G>A (p.Gly1381Arg) c.4132G>A (p.Gly1378Arg) n.6266+13557G>A | COSMIC |
2 | g.15218866C>A | CA345884517 | NBAS | c.4325G>T c.4426+13556G>T c.850G>T c.2195G>T c.6339G>T (p.Leu2113Phe) c.512+13556G>T (n.512+13556G>T) c.3482G>T n.6280+13556G>T c.6210G>T (p.Leu2070Phe) c.5700G>T (p.Leu1900Phe) c.4140G>T (p.Leu1380Phe) c.4131G>T (p.Leu1377Phe) n.6266+13556G>T | |
2 | g.15218866C= | CA2490796218 | NBAS | c.4325G= c.4426+13556G= c.850G= c.2195G= c.6339G= (p.Leu2113=) c.512+13556G= (n.512+13556G=) c.3482G= n.6280+13556G= c.6210G= (p.Leu2070=) c.5700G= (p.Leu1900=) c.4140G= (p.Leu1380=) c.4131G= (p.Leu1377=) n.6266+13556G= | |
2 | g.15218866C>G | CA345884520 | NBAS | c.4325G>C c.4426+13556G>C c.850G>C c.2195G>C c.6339G>C (p.Leu2113Phe) c.512+13556G>C (n.512+13556G>C) c.3482G>C n.6280+13556G>C c.6210G>C (p.Leu2070Phe) c.5700G>C (p.Leu1900Phe) c.4140G>C (p.Leu1380Phe) c.4131G>C (p.Leu1377Phe) n.6266+13556G>C | |
2 | g.15218866C>T | CA1535032 | NBAS | c.4325G>A c.4426+13556G>A c.850G>A c.2195G>A c.6339G>A (p.Leu2113=) c.512+13556G>A (n.512+13556G>A) c.3482G>A n.6280+13556G>A c.6210G>A (p.Leu2070=) c.5700G>A (p.Leu1900=) c.4140G>A (p.Leu1380=) c.4131G>A (p.Leu1377=) n.6266+13556G>A | dbSNP ExAC gnomAD v2 |
2 | g.15218867A>C | CA345884525 | NBAS | c.4324T>G c.4426+13555T>G c.849T>G c.2194T>G c.6338T>G (p.Leu2113Trp) c.512+13555T>G (n.512+13555T>G) c.3481T>G n.6280+13555T>G c.6209T>G (p.Leu2070Trp) c.5699T>G (p.Leu1900Trp) c.4139T>G (p.Leu1380Trp) c.4130T>G (p.Leu1377Trp) n.6266+13555T>G | ClinVar dbSNP gnomAD v4 |
2 | g.15218867A>G | CA345884538 | NBAS | c.4324T>C c.4426+13555T>C c.849T>C c.2194T>C c.6338T>C (p.Leu2113Ser) c.512+13555T>C (n.512+13555T>C) c.3481T>C n.6280+13555T>C c.6209T>C (p.Leu2070Ser) c.5699T>C (p.Leu1900Ser) c.4139T>C (p.Leu1380Ser) c.4130T>C (p.Leu1377Ser) n.6266+13555T>C | |
2 | g.15218867A>T | CA345884533 | NBAS | c.4324T>A c.4426+13555T>A c.849T>A c.2194T>A c.6338T>A (p.Leu2113Ter) c.512+13555T>A (n.512+13555T>A) c.3481T>A n.6280+13555T>A c.6209T>A (p.Leu2070Ter) c.5699T>A (p.Leu1900Ter) c.4139T>A (p.Leu1380Ter) c.4130T>A (p.Leu1377Ter) n.6266+13555T>A | |
2 | g.15218870del | CA2576680241 | NBAS | c.4324del c.4426+13555del c.849del c.2194del c.6338del (p.Leu2113TrpfsTer7) c.512+13555del (n.512+13555del) c.3481del n.6280+13555del c.6209del (p.Leu2070TrpfsTer7) c.5699del (p.Leu1900TrpfsTer7) c.4139del (p.Leu1380TrpfsTer7) c.4130del (p.Leu1377TrpfsTer7) n.6266+13555del | |
2 | g.15218868A= | CA2490796219 | NBAS | c.4323T= c.4426+13554T= c.848T= c.2193T= c.6337T= (p.Leu2113=) c.512+13554T= (n.512+13554T=) c.3480T= n.6280+13554T= c.6208T= (p.Leu2070=) c.5698T= (p.Leu1900=) c.4138T= (p.Leu1380=) c.4129T= (p.Leu1377=) n.6266+13554T= | |
2 | g.15218868A>C | CA345884542 | NBAS | c.4323T>G c.4426+13554T>G c.848T>G c.2193T>G c.6337T>G (p.Leu2113Val) c.512+13554T>G (n.512+13554T>G) c.3480T>G n.6280+13554T>G c.6208T>G (p.Leu2070Val) c.5698T>G (p.Leu1900Val) c.4138T>G (p.Leu1380Val) c.4129T>G (p.Leu1377Val) n.6266+13554T>G | |
2 | g.15218868A>G | CA1535033 | NBAS | c.4323T>C c.4426+13554T>C c.848T>C c.2193T>C c.6337T>C (p.Leu2113=) c.512+13554T>C (n.512+13554T>C) c.3480T>C n.6280+13554T>C c.6208T>C (p.Leu2070=) c.5698T>C (p.Leu1900=) c.4138T>C (p.Leu1380=) c.4129T>C (p.Leu1377=) n.6266+13554T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15218868A>T | CA345884545 | NBAS | c.4323T>A c.4426+13554T>A c.848T>A c.2193T>A c.6337T>A (p.Leu2113Met) c.512+13554T>A (n.512+13554T>A) c.3480T>A n.6280+13554T>A c.6208T>A (p.Leu2070Met) c.5698T>A (p.Leu1900Met) c.4138T>A (p.Leu1380Met) c.4129T>A (p.Leu1377Met) n.6266+13554T>A | |
2 | g.15218869A>C | CA345884550 | NBAS | c.4322T>G c.4426+13553T>G c.847T>G c.2192T>G c.6336T>G (p.Ile2112Met) c.512+13553T>G (n.512+13553T>G) c.3479T>G n.6280+13553T>G c.6207T>G (p.Ile2069Met) c.5697T>G (p.Ile1899Met) c.4137T>G (p.Ile1379Met) c.4128T>G (p.Ile1376Met) n.6266+13553T>G | |
2 | g.15218869A>G | CA424866948 | NBAS | c.4322T>C c.4426+13553T>C c.847T>C c.2192T>C c.6336T>C (p.Ile2112=) c.512+13553T>C (n.512+13553T>C) c.3479T>C n.6280+13553T>C c.6207T>C (p.Ile2069=) c.5697T>C (p.Ile1899=) c.4137T>C (p.Ile1379=) c.4128T>C (p.Ile1376=) n.6266+13553T>C | |
2 | g.15218869A>T | CA424866949 | NBAS | c.4322T>A c.4426+13553T>A c.847T>A c.2192T>A c.6336T>A (p.Ile2112=) c.512+13553T>A (n.512+13553T>A) c.3479T>A n.6280+13553T>A c.6207T>A (p.Ile2069=) c.5697T>A (p.Ile1899=) c.4137T>A (p.Ile1379=) c.4128T>A (p.Ile1376=) n.6266+13553T>A | |
2 | g.15218870A>C | CA345884551 | NBAS | c.4321T>G c.4426+13552T>G c.846T>G c.2191T>G c.6335T>G (p.Ile2112Ser) c.512+13552T>G (n.512+13552T>G) c.3478T>G n.6280+13552T>G c.6206T>G (p.Ile2069Ser) c.5696T>G (p.Ile1899Ser) c.4136T>G (p.Ile1379Ser) c.4127T>G (p.Ile1376Ser) n.6266+13552T>G | |
2 | g.15218870A>G | CA345884555 | NBAS | c.4321T>C c.4426+13552T>C c.846T>C c.2191T>C c.6335T>C (p.Ile2112Thr) c.512+13552T>C (n.512+13552T>C) c.3478T>C n.6280+13552T>C c.6206T>C (p.Ile2069Thr) c.5696T>C (p.Ile1899Thr) c.4136T>C (p.Ile1379Thr) c.4127T>C (p.Ile1376Thr) n.6266+13552T>C | |
2 | g.15218870A>T | CA345884557 | NBAS | c.4321T>A c.4426+13552T>A c.846T>A c.2191T>A c.6335T>A (p.Ile2112Asn) c.512+13552T>A (n.512+13552T>A) c.3478T>A n.6280+13552T>A c.6206T>A (p.Ile2069Asn) c.5696T>A (p.Ile1899Asn) c.4136T>A (p.Ile1379Asn) c.4127T>A (p.Ile1376Asn) n.6266+13552T>A | |
2 | g.15218871T>A | CA345884561 | NBAS | c.4320A>T c.4426+13551A>T c.845A>T c.2190A>T c.6334A>T (p.Ile2112Phe) c.512+13551A>T (n.512+13551A>T) c.3477A>T n.6280+13551A>T c.6205A>T (p.Ile2069Phe) c.5695A>T (p.Ile1899Phe) c.4135A>T (p.Ile1379Phe) c.4126A>T (p.Ile1376Phe) n.6266+13551A>T | |
2 | g.15218871T>C | CA345884562 | NBAS | c.4320A>G c.4426+13551A>G c.845A>G c.2190A>G c.6334A>G (p.Ile2112Val) c.512+13551A>G (n.512+13551A>G) c.3477A>G n.6280+13551A>G c.6205A>G (p.Ile2069Val) c.5695A>G (p.Ile1899Val) c.4135A>G (p.Ile1379Val) c.4126A>G (p.Ile1376Val) n.6266+13551A>G | |
2 | g.15218871T>G | CA345884563 | NBAS | c.4320A>C c.4426+13551A>C c.845A>C c.2190A>C c.6334A>C (p.Ile2112Leu) c.512+13551A>C (n.512+13551A>C) c.3477A>C n.6280+13551A>C c.6205A>C (p.Ile2069Leu) c.5695A>C (p.Ile1899Leu) c.4135A>C (p.Ile1379Leu) c.4126A>C (p.Ile1376Leu) n.6266+13551A>C | |
2 | g.15218872C>A | CA345884564 | NBAS | c.4319G>T c.4426+13550G>T c.844G>T c.2189G>T c.6333G>T (p.Gln2111His) c.512+13550G>T (n.512+13550G>T) c.3476G>T n.6280+13550G>T c.6204G>T (p.Gln2068His) c.5694G>T (p.Gln1898His) c.4134G>T (p.Gln1378His) c.4125G>T (p.Gln1375His) n.6266+13550G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218872C= | CA2490796220 | NBAS | c.4319G= c.4426+13550G= c.844G= c.2189G= c.6333G= (p.Gln2111=) c.512+13550G= (n.512+13550G=) c.3476G= n.6280+13550G= c.6204G= (p.Gln2068=) c.5694G= (p.Gln1898=) c.4134G= (p.Gln1378=) c.4125G= (p.Gln1375=) n.6266+13550G= | |
2 | g.15218872C>G | CA345884565 | NBAS | c.4319G>C c.4426+13550G>C c.844G>C c.2189G>C c.6333G>C (p.Gln2111His) c.512+13550G>C (n.512+13550G>C) c.3476G>C n.6280+13550G>C c.6204G>C (p.Gln2068His) c.5694G>C (p.Gln1898His) c.4134G>C (p.Gln1378His) c.4125G>C (p.Gln1375His) n.6266+13550G>C | gnomAD v4 |
2 | g.15218872C>T | CA424866950 | NBAS | c.4319G>A c.4426+13550G>A c.844G>A c.2189G>A c.6333G>A (p.Gln2111=) c.512+13550G>A (n.512+13550G>A) c.3476G>A n.6280+13550G>A c.6204G>A (p.Gln2068=) c.5694G>A (p.Gln1898=) c.4134G>A (p.Gln1378=) c.4125G>A (p.Gln1375=) n.6266+13550G>A | |
2 | g.15218873T>A | CA345884566 | NBAS | c.4318A>T c.4426+13549A>T c.843A>T c.2188A>T c.6332A>T (p.Gln2111Leu) c.512+13549A>T (n.512+13549A>T) c.3475A>T n.6280+13549A>T c.6203A>T (p.Gln2068Leu) c.5693A>T (p.Gln1898Leu) c.4133A>T (p.Gln1378Leu) c.4124A>T (p.Gln1375Leu) n.6266+13549A>T | |
2 | g.15218873T>C | CA345884567 | NBAS | c.4318A>G c.4426+13549A>G c.843A>G c.2188A>G c.6332A>G (p.Gln2111Arg) c.512+13549A>G (n.512+13549A>G) c.3475A>G n.6280+13549A>G c.6203A>G (p.Gln2068Arg) c.5693A>G (p.Gln1898Arg) c.4133A>G (p.Gln1378Arg) c.4124A>G (p.Gln1375Arg) n.6266+13549A>G | dbSNP |
2 | g.15218873T>G | CA345884574 | NBAS | c.4318A>C c.4426+13549A>C c.843A>C c.2188A>C c.6332A>C (p.Gln2111Pro) c.512+13549A>C (n.512+13549A>C) c.3475A>C n.6280+13549A>C c.6203A>C (p.Gln2068Pro) c.5693A>C (p.Gln1898Pro) c.4133A>C (p.Gln1378Pro) c.4124A>C (p.Gln1375Pro) n.6266+13549A>C | |
2 | g.15218873T= | CA2490796221 | NBAS | c.4318A= c.4426+13549A= c.843A= c.2188A= c.6332A= (p.Gln2111=) c.512+13549A= (n.512+13549A=) c.3475A= n.6280+13549A= c.6203A= (p.Gln2068=) c.5693A= (p.Gln1898=) c.4133A= (p.Gln1378=) c.4124A= (p.Gln1375=) n.6266+13549A= | |
2 | g.15218874G>A | CA345884581 | NBAS | c.4317C>T c.4426+13548C>T c.842C>T c.2187C>T c.6331C>T (p.Gln2111Ter) c.512+13548C>T (n.512+13548C>T) c.3474C>T n.6280+13548C>T c.6202C>T (p.Gln2068Ter) c.5692C>T (p.Gln1898Ter) c.4132C>T (p.Gln1378Ter) c.4123C>T (p.Gln1375Ter) n.6266+13548C>T | COSMIC |
2 | g.15218874G>C | CA345884584 | NBAS | c.4317C>G c.4426+13548C>G c.842C>G c.2187C>G c.6331C>G (p.Gln2111Glu) c.512+13548C>G (n.512+13548C>G) c.3474C>G n.6280+13548C>G c.6202C>G (p.Gln2068Glu) c.5692C>G (p.Gln1898Glu) c.4132C>G (p.Gln1378Glu) c.4123C>G (p.Gln1375Glu) n.6266+13548C>G | |
2 | g.15218874G= | CA2490796222 | NBAS | c.4317C= c.4426+13548C= c.842C= c.2187C= c.6331C= (p.Gln2111=) c.512+13548C= (n.512+13548C=) c.3474C= n.6280+13548C= c.6202C= (p.Gln2068=) c.5692C= (p.Gln1898=) c.4132C= (p.Gln1378=) c.4123C= (p.Gln1375=) n.6266+13548C= | |
2 | g.15218874G>T | CA1535034 | NBAS | c.4317C>A c.4426+13548C>A c.842C>A c.2187C>A c.6331C>A (p.Gln2111Lys) c.512+13548C>A (n.512+13548C>A) c.3474C>A n.6280+13548C>A c.6202C>A (p.Gln2068Lys) c.5692C>A (p.Gln1898Lys) c.4132C>A (p.Gln1378Lys) c.4123C>A (p.Gln1375Lys) n.6266+13548C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218875C>A | CA424866953 | NBAS | c.4316G>T c.4426+13547G>T c.841G>T c.2186G>T c.6330G>T (p.Leu2110=) c.512+13547G>T (n.512+13547G>T) c.3473G>T n.6280+13547G>T c.6201G>T (p.Leu2067=) c.5691G>T (p.Leu1897=) c.4131G>T (p.Leu1377=) c.4122G>T (p.Leu1374=) n.6266+13547G>T | |
2 | g.15218875C>G | CA424866952 | NBAS | c.4316G>C c.4426+13547G>C c.841G>C c.2186G>C c.6330G>C (p.Leu2110=) c.512+13547G>C (n.512+13547G>C) c.3473G>C n.6280+13547G>C c.6201G>C (p.Leu2067=) c.5691G>C (p.Leu1897=) c.4131G>C (p.Leu1377=) c.4122G>C (p.Leu1374=) n.6266+13547G>C | |
2 | g.15218875C>T | CA424866951 | NBAS | c.4316G>A c.4426+13547G>A c.841G>A c.2186G>A c.6330G>A (p.Leu2110=) c.512+13547G>A (n.512+13547G>A) c.3473G>A n.6280+13547G>A c.6201G>A (p.Leu2067=) c.5691G>A (p.Leu1897=) c.4131G>A (p.Leu1377=) c.4122G>A (p.Leu1374=) n.6266+13547G>A | |
2 | g.15218876A>C | CA345884601 | NBAS | c.4315T>G c.4426+13546T>G c.840T>G c.2185T>G c.6329T>G (p.Leu2110Arg) c.512+13546T>G (n.512+13546T>G) c.3472T>G n.6280+13546T>G c.6200T>G (p.Leu2067Arg) c.5690T>G (p.Leu1897Arg) c.4130T>G (p.Leu1377Arg) c.4121T>G (p.Leu1374Arg) n.6266+13546T>G | |
2 | g.15218876A>G | CA345884604 | NBAS | c.4315T>C c.4426+13546T>C c.840T>C c.2185T>C c.6329T>C (p.Leu2110Pro) c.512+13546T>C (n.512+13546T>C) c.3472T>C n.6280+13546T>C c.6200T>C (p.Leu2067Pro) c.5690T>C (p.Leu1897Pro) c.4130T>C (p.Leu1377Pro) c.4121T>C (p.Leu1374Pro) n.6266+13546T>C | |
2 | g.15218876A>T | CA345884609 | NBAS | c.4315T>A c.4426+13546T>A c.840T>A c.2185T>A c.6329T>A (p.Leu2110Gln) c.512+13546T>A (n.512+13546T>A) c.3472T>A n.6280+13546T>A c.6200T>A (p.Leu2067Gln) c.5690T>A (p.Leu1897Gln) c.4130T>A (p.Leu1377Gln) c.4121T>A (p.Leu1374Gln) n.6266+13546T>A | |
2 | g.15218877G>A | CA424866954 | NBAS | c.4314C>T c.4426+13545C>T c.839C>T c.2184C>T c.6328C>T (p.Leu2110=) c.512+13545C>T (n.512+13545C>T) c.3471C>T n.6280+13545C>T c.6199C>T (p.Leu2067=) c.5689C>T (p.Leu1897=) c.4129C>T (p.Leu1377=) c.4120C>T (p.Leu1374=) n.6266+13545C>T | gnomAD v4 |
2 | g.15218877G>C | CA345884613 | NBAS | c.4314C>G c.4426+13545C>G c.839C>G c.2184C>G c.6328C>G (p.Leu2110Val) c.512+13545C>G (n.512+13545C>G) c.3471C>G n.6280+13545C>G c.6199C>G (p.Leu2067Val) c.5689C>G (p.Leu1897Val) c.4129C>G (p.Leu1377Val) c.4120C>G (p.Leu1374Val) n.6266+13545C>G | |
2 | g.15218877G>T | CA345884624 | NBAS | c.4314C>A c.4426+13545C>A c.839C>A c.2184C>A c.6328C>A (p.Leu2110Met) c.512+13545C>A (n.512+13545C>A) c.3471C>A n.6280+13545C>A c.6199C>A (p.Leu2067Met) c.5689C>A (p.Leu1897Met) c.4129C>A (p.Leu1377Met) c.4120C>A (p.Leu1374Met) n.6266+13545C>A | |
2 | g.15218878C>A | CA424866955 | NBAS | c.4313G>T c.4426+13544G>T c.838G>T c.2183G>T c.6327G>T (p.Val2109=) c.512+13544G>T (n.512+13544G>T) c.3470G>T n.6280+13544G>T c.6198G>T (p.Val2066=) c.5688G>T (p.Val1896=) c.4128G>T (p.Val1376=) c.4119G>T (p.Val1373=) n.6266+13544G>T | |
2 | g.15218878C= | CA2490796223 | NBAS | c.4313G= c.4426+13544G= c.838G= c.2183G= c.6327G= (p.Val2109=) c.512+13544G= (n.512+13544G=) c.3470G= n.6280+13544G= c.6198G= (p.Val2066=) c.5688G= (p.Val1896=) c.4128G= (p.Val1376=) c.4119G= (p.Val1373=) n.6266+13544G= | |
2 | g.15218878C>G | CA424866956 | NBAS | c.4313G>C c.4426+13544G>C c.838G>C c.2183G>C c.6327G>C (p.Val2109=) c.512+13544G>C (n.512+13544G>C) c.3470G>C n.6280+13544G>C c.6198G>C (p.Val2066=) c.5688G>C (p.Val1896=) c.4128G>C (p.Val1376=) c.4119G>C (p.Val1373=) n.6266+13544G>C | |
2 | g.15218878C>T | CA1535035 | NBAS | c.4313G>A c.4426+13544G>A c.838G>A c.2183G>A c.6327G>A (p.Val2109=) c.512+13544G>A (n.512+13544G>A) c.3470G>A n.6280+13544G>A c.6198G>A (p.Val2066=) c.5688G>A (p.Val1896=) c.4128G>A (p.Val1376=) c.4119G>A (p.Val1373=) n.6266+13544G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218879A>C | CA345884653 | NBAS | c.4312T>G c.4426+13543T>G c.837T>G c.2182T>G c.6326T>G (p.Val2109Gly) c.512+13543T>G (n.512+13543T>G) c.3469T>G n.6280+13543T>G c.6197T>G (p.Val2066Gly) c.5687T>G (p.Val1896Gly) c.4127T>G (p.Val1376Gly) c.4118T>G (p.Val1373Gly) n.6266+13543T>G | |
2 | g.15218879A>G | CA345884649 | NBAS | c.4312T>C c.4426+13543T>C c.837T>C c.2182T>C c.6326T>C (p.Val2109Ala) c.512+13543T>C (n.512+13543T>C) c.3469T>C n.6280+13543T>C c.6197T>C (p.Val2066Ala) c.5687T>C (p.Val1896Ala) c.4127T>C (p.Val1376Ala) c.4118T>C (p.Val1373Ala) n.6266+13543T>C | |
2 | g.15218879A>T | CA345884645 | NBAS | c.4312T>A c.4426+13543T>A c.837T>A c.2182T>A c.6326T>A (p.Val2109Glu) c.512+13543T>A (n.512+13543T>A) c.3469T>A n.6280+13543T>A c.6197T>A (p.Val2066Glu) c.5687T>A (p.Val1896Glu) c.4127T>A (p.Val1376Glu) c.4118T>A (p.Val1373Glu) n.6266+13543T>A | |
2 | g.15218880C>A | CA345884655 | NBAS | c.4311G>T c.4426+13542G>T c.836G>T c.2181G>T c.6325G>T (p.Val2109Leu) c.512+13542G>T (n.512+13542G>T) c.3468G>T n.6280+13542G>T c.6196G>T (p.Val2066Leu) c.5686G>T (p.Val1896Leu) c.4126G>T (p.Val1376Leu) c.4117G>T (p.Val1373Leu) n.6266+13542G>T | |
2 | g.15218880C= | CA2490796224 | NBAS | c.4311G= c.4426+13542G= c.836G= c.2181G= c.6325G= (p.Val2109=) c.512+13542G= (n.512+13542G=) c.3468G= n.6280+13542G= c.6196G= (p.Val2066=) c.5686G= (p.Val1896=) c.4126G= (p.Val1376=) c.4117G= (p.Val1373=) n.6266+13542G= | |
2 | g.15218880C>G | CA345884658 | NBAS | c.4311G>C c.4426+13542G>C c.836G>C c.2181G>C c.6325G>C (p.Val2109Leu) c.512+13542G>C (n.512+13542G>C) c.3468G>C n.6280+13542G>C c.6196G>C (p.Val2066Leu) c.5686G>C (p.Val1896Leu) c.4126G>C (p.Val1376Leu) c.4117G>C (p.Val1373Leu) n.6266+13542G>C | gnomAD v4 |
2 | g.15218880C>T | CA1535036 | NBAS | c.4311G>A c.4426+13542G>A c.836G>A c.2181G>A c.6325G>A (p.Val2109Met) c.512+13542G>A (n.512+13542G>A) c.3468G>A n.6280+13542G>A c.6196G>A (p.Val2066Met) c.5686G>A (p.Val1896Met) c.4126G>A (p.Val1376Met) c.4117G>A (p.Val1373Met) n.6266+13542G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218881G>A | CA42584433 | NBAS | c.4310C>T c.4426+13541C>T c.835C>T c.2180C>T c.6324C>T (p.His2108=) c.512+13541C>T (n.512+13541C>T) c.3467C>T n.6280+13541C>T c.6195C>T (p.His2065=) c.5685C>T (p.His1895=) c.4125C>T (p.His1375=) c.4116C>T (p.His1372=) n.6266+13541C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218881G>C | CA345884667 | NBAS | c.4310C>G c.4426+13541C>G c.835C>G c.2180C>G c.6324C>G (p.His2108Gln) c.512+13541C>G (n.512+13541C>G) c.3467C>G n.6280+13541C>G c.6195C>G (p.His2065Gln) c.5685C>G (p.His1895Gln) c.4125C>G (p.His1375Gln) c.4116C>G (p.His1372Gln) n.6266+13541C>G | |
2 | g.15218881G= | CA2490796225 | NBAS | c.4310C= c.4426+13541C= c.835C= c.2180C= c.6324C= (p.His2108=) c.512+13541C= (n.512+13541C=) c.3467C= n.6280+13541C= c.6195C= (p.His2065=) c.5685C= (p.His1895=) c.4125C= (p.His1375=) c.4116C= (p.His1372=) n.6266+13541C= | |
2 | g.15218881G>T | CA1535037 | NBAS | c.4310C>A c.4426+13541C>A c.835C>A c.2180C>A c.6324C>A (p.His2108Gln) c.512+13541C>A (n.512+13541C>A) c.3467C>A n.6280+13541C>A c.6195C>A (p.His2065Gln) c.5685C>A (p.His1895Gln) c.4125C>A (p.His1375Gln) c.4116C>A (p.His1372Gln) n.6266+13541C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218882T>A | CA345884670 | NBAS | c.4309A>T c.4426+13540A>T c.834A>T c.2179A>T c.6323A>T (p.His2108Leu) c.512+13540A>T (n.512+13540A>T) c.3466A>T n.6280+13540A>T c.6194A>T (p.His2065Leu) c.5684A>T (p.His1895Leu) c.4124A>T (p.His1375Leu) c.4115A>T (p.His1372Leu) n.6266+13540A>T | |
2 | g.15218882T>C | CA345884672 | NBAS | c.4309A>G c.4426+13540A>G c.834A>G c.2179A>G c.6323A>G (p.His2108Arg) c.512+13540A>G (n.512+13540A>G) c.3466A>G n.6280+13540A>G c.6194A>G (p.His2065Arg) c.5684A>G (p.His1895Arg) c.4124A>G (p.His1375Arg) c.4115A>G (p.His1372Arg) n.6266+13540A>G | |
2 | g.15218882T>G | CA345884676 | NBAS | c.4309A>C c.4426+13540A>C c.834A>C c.2179A>C c.6323A>C (p.His2108Pro) c.512+13540A>C (n.512+13540A>C) c.3466A>C n.6280+13540A>C c.6194A>C (p.His2065Pro) c.5684A>C (p.His1895Pro) c.4124A>C (p.His1375Pro) c.4115A>C (p.His1372Pro) n.6266+13540A>C | |
2 | g.15218883G>A | CA345884678 | NBAS | c.4308C>T c.4426+13539C>T c.833C>T c.2178C>T c.6322C>T (p.His2108Tyr) c.512+13539C>T (n.512+13539C>T) c.3465C>T n.6280+13539C>T c.6193C>T (p.His2065Tyr) c.5683C>T (p.His1895Tyr) c.4123C>T (p.His1375Tyr) c.4114C>T (p.His1372Tyr) n.6266+13539C>T | |
2 | g.15218883G>C | CA345884681 | NBAS | c.4308C>G c.4426+13539C>G c.833C>G c.2178C>G c.6322C>G (p.His2108Asp) c.512+13539C>G (n.512+13539C>G) c.3465C>G n.6280+13539C>G c.6193C>G (p.His2065Asp) c.5683C>G (p.His1895Asp) c.4123C>G (p.His1375Asp) c.4114C>G (p.His1372Asp) n.6266+13539C>G | |
2 | g.15218883G>T | CA345884683 | NBAS | c.4308C>A c.4426+13539C>A c.833C>A c.2178C>A c.6322C>A (p.His2108Asn) c.512+13539C>A (n.512+13539C>A) c.3465C>A n.6280+13539C>A c.6193C>A (p.His2065Asn) c.5683C>A (p.His1895Asn) c.4123C>A (p.His1375Asn) c.4114C>A (p.His1372Asn) n.6266+13539C>A | |
2 | g.15218884A>C | CA345884685 | NBAS | c.4307T>G c.4426+13538T>G c.832T>G c.2177T>G c.6321T>G (p.Ile2107Met) c.512+13538T>G (n.512+13538T>G) c.3464T>G n.6280+13538T>G c.6192T>G (p.Ile2064Met) c.5682T>G (p.Ile1894Met) c.4122T>G (p.Ile1374Met) c.4113T>G (p.Ile1371Met) n.6266+13538T>G | ClinVar |
2 | g.15218884A>G | CA424866957 | NBAS | c.4307T>C c.4426+13538T>C c.832T>C c.2177T>C c.6321T>C (p.Ile2107=) c.512+13538T>C (n.512+13538T>C) c.3464T>C n.6280+13538T>C c.6192T>C (p.Ile2064=) c.5682T>C (p.Ile1894=) c.4122T>C (p.Ile1374=) c.4113T>C (p.Ile1371=) n.6266+13538T>C | |
2 | g.15218884A>T | CA424866958 | NBAS | c.4307T>A c.4426+13538T>A c.832T>A c.2177T>A c.6321T>A (p.Ile2107=) c.512+13538T>A (n.512+13538T>A) c.3464T>A n.6280+13538T>A c.6192T>A (p.Ile2064=) c.5682T>A (p.Ile1894=) c.4122T>A (p.Ile1374=) c.4113T>A (p.Ile1371=) n.6266+13538T>A | |
2 | g.15218885A>C | CA345884690 | NBAS | c.4306T>G c.4426+13537T>G c.831T>G c.2176T>G c.6320T>G (p.Ile2107Ser) c.512+13537T>G (n.512+13537T>G) c.3463T>G n.6280+13537T>G c.6191T>G (p.Ile2064Ser) c.5681T>G (p.Ile1894Ser) c.4121T>G (p.Ile1374Ser) c.4112T>G (p.Ile1371Ser) n.6266+13537T>G | |
2 | g.15218885A>G | CA345884688 | NBAS | c.4306T>C c.4426+13537T>C c.831T>C c.2176T>C c.6320T>C (p.Ile2107Thr) c.512+13537T>C (n.512+13537T>C) c.3463T>C n.6280+13537T>C c.6191T>C (p.Ile2064Thr) c.5681T>C (p.Ile1894Thr) c.4121T>C (p.Ile1374Thr) c.4112T>C (p.Ile1371Thr) n.6266+13537T>C | |
2 | g.15218885A>T | CA345884687 | NBAS | c.4306T>A c.4426+13537T>A c.831T>A c.2176T>A c.6320T>A (p.Ile2107Asn) c.512+13537T>A (n.512+13537T>A) c.3463T>A n.6280+13537T>A c.6191T>A (p.Ile2064Asn) c.5681T>A (p.Ile1894Asn) c.4121T>A (p.Ile1374Asn) c.4112T>A (p.Ile1371Asn) n.6266+13537T>A | |
2 | g.15218886T>A | CA345884694 | NBAS | c.4305A>T c.4426+13536A>T c.830A>T c.2175A>T c.6319A>T (p.Ile2107Phe) c.512+13536A>T (n.512+13536A>T) c.3462A>T n.6280+13536A>T c.6190A>T (p.Ile2064Phe) c.5680A>T (p.Ile1894Phe) c.4120A>T (p.Ile1374Phe) c.4111A>T (p.Ile1371Phe) n.6266+13536A>T | |
2 | g.15218886T>C | CA345884697 | NBAS | c.4305A>G c.4426+13536A>G c.830A>G c.2175A>G c.6319A>G (p.Ile2107Val) c.512+13536A>G (n.512+13536A>G) c.3462A>G n.6280+13536A>G c.6190A>G (p.Ile2064Val) c.5680A>G (p.Ile1894Val) c.4120A>G (p.Ile1374Val) c.4111A>G (p.Ile1371Val) n.6266+13536A>G | dbSNP |
2 | g.15218886T>G | CA345884696 | NBAS | c.4305A>C c.4426+13536A>C c.830A>C c.2175A>C c.6319A>C (p.Ile2107Leu) c.512+13536A>C (n.512+13536A>C) c.3462A>C n.6280+13536A>C c.6190A>C (p.Ile2064Leu) c.5680A>C (p.Ile1894Leu) c.4120A>C (p.Ile1374Leu) c.4111A>C (p.Ile1371Leu) n.6266+13536A>C | |
2 | g.15218886T= | CA2490796226 | NBAS | c.4305A= c.4426+13536A= c.830A= c.2175A= c.6319A= (p.Ile2107=) c.512+13536A= (n.512+13536A=) c.3462A= n.6280+13536A= c.6190A= (p.Ile2064=) c.5680A= (p.Ile1894=) c.4120A= (p.Ile1374=) c.4111A= (p.Ile1371=) n.6266+13536A= | |
2 | g.15218886_15218898dup | CA2657930725 | NBAS | c.4293_4305dup c.4426+13524_4426+13536dup c.818_830dup c.2163_2175dup c.6307_6319dup (p.Ile2107SerfsTer19) c.512+13524_512+13536dup (n.512+13524_512+13536dup) c.3450_3462dup n.6280+13524_6280+13536dup c.6178_6190dup (p.Ile2064SerfsTer19) c.5668_5680dup (p.Ile1894SerfsTer19) c.4108_4120dup (p.Ile1374SerfsTer19) c.4099_4111dup (p.Ile1371SerfsTer19) n.6266+13524_6266+13536dup | gnomAD v4 |
2 | g.15218887G>A | CA424866959 | NBAS | c.4304C>T c.4426+13535C>T c.829C>T c.2174C>T c.6318C>T (p.Arg2106=) c.512+13535C>T (n.512+13535C>T) c.3461C>T n.6280+13535C>T c.6189C>T (p.Arg2063=) c.5679C>T (p.Arg1893=) c.4119C>T (p.Arg1373=) c.4110C>T (p.Arg1370=) n.6266+13535C>T | |
2 | g.15218887G>C | CA424866960 | NBAS | c.4304C>G c.4426+13535C>G c.829C>G c.2174C>G c.6318C>G (p.Arg2106=) c.512+13535C>G (n.512+13535C>G) c.3461C>G n.6280+13535C>G c.6189C>G (p.Arg2063=) c.5679C>G (p.Arg1893=) c.4119C>G (p.Arg1373=) c.4110C>G (p.Arg1370=) n.6266+13535C>G | |
2 | g.15218887G>T | CA424866961 | NBAS | c.4304C>A c.4426+13535C>A c.829C>A c.2174C>A c.6318C>A (p.Arg2106=) c.512+13535C>A (n.512+13535C>A) c.3461C>A n.6280+13535C>A c.6189C>A (p.Arg2063=) c.5679C>A (p.Arg1893=) c.4119C>A (p.Arg1373=) c.4110C>A (p.Arg1370=) n.6266+13535C>A | ClinVar gnomAD v4 |
2 | g.15218887_15218901del | CA2657930726 | NBAS | c.4290_4304del c.4426+13521_4426+13535del c.815_829del c.2160_2174del c.6304_6318del (p.Pro2102_Arg2106del) c.512+13521_512+13535del (n.512+13521_512+13535del) c.3447_3461del n.6280+13521_6280+13535del c.6175_6189del (p.Pro2059_Arg2063del) c.5665_5679del (p.Pro1889_Arg1893del) c.4105_4119del (p.Pro1369_Arg1373del) c.4096_4110del (p.Pro1366_Arg1370del) n.6266+13521_6266+13535del | gnomAD v4 |
2 | g.15218888C>A | CA1535038 | NBAS | c.4303G>T c.4426+13534G>T c.828G>T c.2173G>T c.6317G>T (p.Arg2106Leu) c.512+13534G>T (n.512+13534G>T) c.3460G>T n.6280+13534G>T c.6188G>T (p.Arg2063Leu) c.5678G>T (p.Arg1893Leu) c.4118G>T (p.Arg1373Leu) c.4109G>T (p.Arg1370Leu) n.6266+13534G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218888C= | CA2490796227 | NBAS | c.4303G= c.4426+13534G= c.828G= c.2173G= c.6317G= (p.Arg2106=) c.512+13534G= (n.512+13534G=) c.3460G= n.6280+13534G= c.6188G= (p.Arg2063=) c.5678G= (p.Arg1893=) c.4118G= (p.Arg1373=) c.4109G= (p.Arg1370=) n.6266+13534G= | |
2 | g.15218888C>G | CA345884708 | NBAS | c.4303G>C c.4426+13534G>C c.828G>C c.2173G>C c.6317G>C (p.Arg2106Pro) c.512+13534G>C (n.512+13534G>C) c.3460G>C n.6280+13534G>C c.6188G>C (p.Arg2063Pro) c.5678G>C (p.Arg1893Pro) c.4118G>C (p.Arg1373Pro) c.4109G>C (p.Arg1370Pro) n.6266+13534G>C | |
2 | g.15218888C>T | CA1535039 | NBAS | c.4303G>A c.4426+13534G>A c.828G>A c.2173G>A c.6317G>A (p.Arg2106His) c.512+13534G>A (n.512+13534G>A) c.3460G>A n.6280+13534G>A c.6188G>A (p.Arg2063His) c.5678G>A (p.Arg1893His) c.4118G>A (p.Arg1373His) c.4109G>A (p.Arg1370His) n.6266+13534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218888_15218889delinsCG | CA2490796228 | NBAS | c.4302_4303delinsCG c.4426+13533_4426+13534delinsCG c.827_828delinsCG c.2172_2173delinsCG c.6316_6317delinsCG (p.Arg2106=) c.512+13533_512+13534delinsCG (n.512+13533_512+13534delinsCG) c.3459_3460delinsCG n.6280+13533_6280+13534delinsCG c.6187_6188delinsCG (p.Arg2063=) c.5677_5678delinsCG (p.Arg1893=) c.4117_4118delinsCG (p.Arg1373=) c.4108_4109delinsCG (p.Arg1370=) n.6266+13533_6266+13534delinsCG | |
2 | g.15218889G>A | CA1535040 | NBAS | c.4302C>T c.4426+13533C>T c.827C>T c.2172C>T c.6316C>T (p.Arg2106Cys) c.512+13533C>T (n.512+13533C>T) c.3459C>T n.6280+13533C>T c.6187C>T (p.Arg2063Cys) c.5677C>T (p.Arg1893Cys) c.4117C>T (p.Arg1373Cys) c.4108C>T (p.Arg1370Cys) n.6266+13533C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218889G>C | CA345884714 | NBAS | c.4302C>G c.4426+13533C>G c.827C>G c.2172C>G c.6316C>G (p.Arg2106Gly) c.512+13533C>G (n.512+13533C>G) c.3459C>G n.6280+13533C>G c.6187C>G (p.Arg2063Gly) c.5677C>G (p.Arg1893Gly) c.4117C>G (p.Arg1373Gly) c.4108C>G (p.Arg1370Gly) n.6266+13533C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.15218889G= | CA2490796229 | NBAS | c.4302C= c.4426+13533C= c.827C= c.2172C= c.6316C= (p.Arg2106=) c.512+13533C= (n.512+13533C=) c.3459C= n.6280+13533C= c.6187C= (p.Arg2063=) c.5677C= (p.Arg1893=) c.4117C= (p.Arg1373=) c.4108C= (p.Arg1370=) n.6266+13533C= | |
2 | g.15218889G>T | CA345884711 | NBAS | c.4302C>A c.4426+13533C>A c.827C>A c.2172C>A c.6316C>A (p.Arg2106Ser) c.512+13533C>A (n.512+13533C>A) c.3459C>A n.6280+13533C>A c.6187C>A (p.Arg2063Ser) c.5677C>A (p.Arg1893Ser) c.4117C>A (p.Arg1373Ser) c.4108C>A (p.Arg1370Ser) n.6266+13533C>A | |
2 | g.15218892del | CA16617250 | NBAS | c.4302del c.4426+13533del c.827del c.2172del c.6316del (p.Arg2106AlafsTer14) c.512+13533del (n.512+13533del) c.3459del n.6280+13533del c.6187del (p.Arg2063AlafsTer14) c.5677del (p.Arg1893AlafsTer14) c.4117del (p.Arg1373AlafsTer14) c.4108del (p.Arg1370AlafsTer14) n.6266+13533del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218890G>A | CA424866964 | NBAS | c.4301C>T c.4426+13532C>T c.826C>T c.2171C>T c.6315C>T (p.Pro2105=) c.512+13532C>T (n.512+13532C>T) c.3458C>T n.6280+13532C>T c.6186C>T (p.Pro2062=) c.5676C>T (p.Pro1892=) c.4116C>T (p.Pro1372=) c.4107C>T (p.Pro1369=) n.6266+13532C>T | |
2 | g.15218890G>C | CA424866962 | NBAS | c.4301C>G c.4426+13532C>G c.826C>G c.2171C>G c.6315C>G (p.Pro2105=) c.512+13532C>G (n.512+13532C>G) c.3458C>G n.6280+13532C>G c.6186C>G (p.Pro2062=) c.5676C>G (p.Pro1892=) c.4116C>G (p.Pro1372=) c.4107C>G (p.Pro1369=) n.6266+13532C>G | ClinVar |
2 | g.15218890G= | CA2490796230 | NBAS | c.4301C= c.4426+13532C= c.826C= c.2171C= c.6315C= (p.Pro2105=) c.512+13532C= (n.512+13532C=) c.3458C= n.6280+13532C= c.6186C= (p.Pro2062=) c.5676C= (p.Pro1892=) c.4116C= (p.Pro1372=) c.4107C= (p.Pro1369=) n.6266+13532C= | |
2 | g.15218890G>T | CA424866963 | NBAS | c.4301C>A c.4426+13532C>A c.826C>A c.2171C>A c.6315C>A (p.Pro2105=) c.512+13532C>A (n.512+13532C>A) c.3458C>A n.6280+13532C>A c.6186C>A (p.Pro2062=) c.5676C>A (p.Pro1892=) c.4116C>A (p.Pro1372=) c.4107C>A (p.Pro1369=) n.6266+13532C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218891G>A | CA345884719 | NBAS | c.4300C>T c.4426+13531C>T c.825C>T c.2170C>T c.6314C>T (p.Pro2105Leu) c.512+13531C>T (n.512+13531C>T) c.3457C>T n.6280+13531C>T c.6185C>T (p.Pro2062Leu) c.5675C>T (p.Pro1892Leu) c.4115C>T (p.Pro1372Leu) c.4106C>T (p.Pro1369Leu) n.6266+13531C>T | |
2 | g.15218891G>C | CA345884723 | NBAS | c.4300C>G c.4426+13531C>G c.825C>G c.2170C>G c.6314C>G (p.Pro2105Arg) c.512+13531C>G (n.512+13531C>G) c.3457C>G n.6280+13531C>G c.6185C>G (p.Pro2062Arg) c.5675C>G (p.Pro1892Arg) c.4115C>G (p.Pro1372Arg) c.4106C>G (p.Pro1369Arg) n.6266+13531C>G | |
2 | g.15218891G>T | CA345884722 | NBAS | c.4300C>A c.4426+13531C>A c.825C>A c.2170C>A c.6314C>A (p.Pro2105His) c.512+13531C>A (n.512+13531C>A) c.3457C>A n.6280+13531C>A c.6185C>A (p.Pro2062His) c.5675C>A (p.Pro1892His) c.4115C>A (p.Pro1372His) c.4106C>A (p.Pro1369His) n.6266+13531C>A | |
2 | g.15218892G>A | CA345884724 | NBAS | c.4299C>T c.4426+13530C>T c.824C>T c.2169C>T c.6313C>T (p.Pro2105Ser) c.512+13530C>T (n.512+13530C>T) c.3456C>T n.6280+13530C>T c.6184C>T (p.Pro2062Ser) c.5674C>T (p.Pro1892Ser) c.4114C>T (p.Pro1372Ser) c.4105C>T (p.Pro1369Ser) n.6266+13530C>T | |
2 | g.15218892G>C | CA345884726 | NBAS | c.4299C>G c.4426+13530C>G c.824C>G c.2169C>G c.6313C>G (p.Pro2105Ala) c.512+13530C>G (n.512+13530C>G) c.3456C>G n.6280+13530C>G c.6184C>G (p.Pro2062Ala) c.5674C>G (p.Pro1892Ala) c.4114C>G (p.Pro1372Ala) c.4105C>G (p.Pro1369Ala) n.6266+13530C>G | gnomAD v4 |
2 | g.15218892G= | CA2490796231 | NBAS | c.4299C= c.4426+13530C= c.824C= c.2169C= c.6313C= (p.Pro2105=) c.512+13530C= (n.512+13530C=) c.3456C= n.6280+13530C= c.6184C= (p.Pro2062=) c.5674C= (p.Pro1892=) c.4114C= (p.Pro1372=) c.4105C= (p.Pro1369=) n.6266+13530C= | |
2 | g.15218892G>T | CA345884725 | NBAS | c.4299C>A c.4426+13530C>A c.824C>A c.2169C>A c.6313C>A (p.Pro2105Thr) c.512+13530C>A (n.512+13530C>A) c.3456C>A n.6280+13530C>A c.6184C>A (p.Pro2062Thr) c.5674C>A (p.Pro1892Thr) c.4114C>A (p.Pro1372Thr) c.4105C>A (p.Pro1369Thr) n.6266+13530C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218892_15218893delinsGC | CA2490796232 | NBAS | c.4298_4299delinsGC c.4426+13529_4426+13530delinsGC c.823_824delinsGC c.2168_2169delinsGC c.6312_6313delinsGC (p.Arg2104=) c.512+13529_512+13530delinsGC (n.512+13529_512+13530delinsGC) c.3455_3456delinsGC n.6280+13529_6280+13530delinsGC c.6183_6184delinsGC (p.Arg2061=) c.5673_5674delinsGC (p.Arg1891=) c.4113_4114delinsGC (p.Arg1371=) c.4104_4105delinsGC (p.Arg1368=) n.6266+13529_6266+13530delinsGC | |
2 | g.15218893C>A | CA424866965 | NBAS | c.4298G>T c.4426+13529G>T c.823G>T c.2168G>T c.6312G>T (p.Arg2104=) c.512+13529G>T (n.512+13529G>T) c.3455G>T n.6280+13529G>T c.6183G>T (p.Arg2061=) c.5673G>T (p.Arg1891=) c.4113G>T (p.Arg1371=) c.4104G>T (p.Arg1368=) n.6266+13529G>T | |
2 | g.15218893C>G | CA424866966 | NBAS | c.4298G>C c.4426+13529G>C c.823G>C c.2168G>C c.6312G>C (p.Arg2104=) c.512+13529G>C (n.512+13529G>C) c.3455G>C n.6280+13529G>C c.6183G>C (p.Arg2061=) c.5673G>C (p.Arg1891=) c.4113G>C (p.Arg1371=) c.4104G>C (p.Arg1368=) n.6266+13529G>C | |
2 | g.15218893C>T | CA424866967 | NBAS | c.4298G>A c.4426+13529G>A c.823G>A c.2168G>A c.6312G>A (p.Arg2104=) c.512+13529G>A (n.512+13529G>A) c.3455G>A n.6280+13529G>A c.6183G>A (p.Arg2061=) c.5673G>A (p.Arg1891=) c.4113G>A (p.Arg1371=) c.4104G>A (p.Arg1368=) n.6266+13529G>A | gnomAD v4 |
2 | g.15218894del | CA758915134 | NBAS | c.4298del c.4426+13529del c.823del c.2168del c.6312del (p.Arg2106AlafsTer14) c.512+13529del (n.512+13529del) c.3455del n.6280+13529del c.6183del (p.Arg2063AlafsTer14) c.5673del (p.Arg1893AlafsTer14) c.4113del (p.Arg1373AlafsTer14) c.4104del (p.Arg1370AlafsTer14) n.6266+13529del | ClinVar dbSNP gnomAD v4 |
2 | g.15218894C>A | CA345884727 | NBAS | c.4297G>T c.4426+13528G>T c.822G>T c.2167G>T c.6311G>T (p.Arg2104Leu) c.512+13528G>T (n.512+13528G>T) c.3454G>T n.6280+13528G>T c.6182G>T (p.Arg2061Leu) c.5672G>T (p.Arg1891Leu) c.4112G>T (p.Arg1371Leu) c.4103G>T (p.Arg1368Leu) n.6266+13528G>T | COSMIC |
2 | g.15218894C= | CA2490796233 | NBAS | c.4297G= c.4426+13528G= c.822G= c.2167G= c.6311G= (p.Arg2104=) c.512+13528G= (n.512+13528G=) c.3454G= n.6280+13528G= c.6182G= (p.Arg2061=) c.5672G= (p.Arg1891=) c.4112G= (p.Arg1371=) c.4103G= (p.Arg1368=) n.6266+13528G= | |
2 | g.15218894C>G | CA345884730 | NBAS | c.4297G>C c.4426+13528G>C c.822G>C c.2167G>C c.6311G>C (p.Arg2104Pro) c.512+13528G>C (n.512+13528G>C) c.3454G>C n.6280+13528G>C c.6182G>C (p.Arg2061Pro) c.5672G>C (p.Arg1891Pro) c.4112G>C (p.Arg1371Pro) c.4103G>C (p.Arg1368Pro) n.6266+13528G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218894C>T | CA1535041 | NBAS | c.4297G>A c.4426+13528G>A c.822G>A c.2167G>A c.6311G>A (p.Arg2104Gln) c.512+13528G>A (n.512+13528G>A) c.3454G>A n.6280+13528G>A c.6182G>A (p.Arg2061Gln) c.5672G>A (p.Arg1891Gln) c.4112G>A (p.Arg1371Gln) c.4103G>A (p.Arg1368Gln) n.6266+13528G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218895G>A | CA1535042 | NBAS | c.4296C>T c.4426+13527C>T c.821C>T c.2166C>T c.6310C>T (p.Arg2104Trp) c.512+13527C>T (n.512+13527C>T) c.3453C>T n.6280+13527C>T c.6181C>T (p.Arg2061Trp) c.5671C>T (p.Arg1891Trp) c.4111C>T (p.Arg1371Trp) c.4102C>T (p.Arg1368Trp) n.6266+13527C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218895G>C | CA1535043 | NBAS | c.4296C>G c.4426+13527C>G c.821C>G c.2166C>G c.6310C>G (p.Arg2104Gly) c.512+13527C>G (n.512+13527C>G) c.3453C>G n.6280+13527C>G c.6181C>G (p.Arg2061Gly) c.5671C>G (p.Arg1891Gly) c.4111C>G (p.Arg1371Gly) c.4102C>G (p.Arg1368Gly) n.6266+13527C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218895G= | CA2490796234 | NBAS | c.4296C= c.4426+13527C= c.821C= c.2166C= c.6310C= (p.Arg2104=) c.512+13527C= (n.512+13527C=) c.3453C= n.6280+13527C= c.6181C= (p.Arg2061=) c.5671C= (p.Arg1891=) c.4111C= (p.Arg1371=) c.4102C= (p.Arg1368=) n.6266+13527C= | |
2 | g.15218895G>T | CA424866968 | NBAS | c.4296C>A c.4426+13527C>A c.821C>A c.2166C>A c.6310C>A (p.Arg2104=) c.512+13527C>A (n.512+13527C>A) c.3453C>A n.6280+13527C>A c.6181C>A (p.Arg2061=) c.5671C>A (p.Arg1891=) c.4111C>A (p.Arg1371=) c.4102C>A (p.Arg1368=) n.6266+13527C>A | |
2 | g.15218896C>A | CA424866971 | NBAS | c.4295G>T c.4426+13526G>T c.820G>T c.2165G>T c.6309G>T (p.Val2103=) c.512+13526G>T (n.512+13526G>T) c.3452G>T n.6280+13526G>T c.6180G>T (p.Val2060=) c.5670G>T (p.Val1890=) c.4110G>T (p.Val1370=) c.4101G>T (p.Val1367=) n.6266+13526G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218896C= | CA2490796235 | NBAS | c.4295G= c.4426+13526G= c.820G= c.2165G= c.6309G= (p.Val2103=) c.512+13526G= (n.512+13526G=) c.3452G= n.6280+13526G= c.6180G= (p.Val2060=) c.5670G= (p.Val1890=) c.4110G= (p.Val1370=) c.4101G= (p.Val1367=) n.6266+13526G= | |
2 | g.15218896C>G | CA424866969 | NBAS | c.4295G>C c.4426+13526G>C c.820G>C c.2165G>C c.6309G>C (p.Val2103=) c.512+13526G>C (n.512+13526G>C) c.3452G>C n.6280+13526G>C c.6180G>C (p.Val2060=) c.5670G>C (p.Val1890=) c.4110G>C (p.Val1370=) c.4101G>C (p.Val1367=) n.6266+13526G>C | |
2 | g.15218896C>T | CA424866970 | NBAS | c.4295G>A c.4426+13526G>A c.820G>A c.2165G>A c.6309G>A (p.Val2103=) c.512+13526G>A (n.512+13526G>A) c.3452G>A n.6280+13526G>A c.6180G>A (p.Val2060=) c.5670G>A (p.Val1890=) c.4110G>A (p.Val1370=) c.4101G>A (p.Val1367=) n.6266+13526G>A | |
2 | g.15218897A>C | CA345884738 | NBAS | c.4294T>G c.4426+13525T>G c.819T>G c.2164T>G c.6308T>G (p.Val2103Gly) c.512+13525T>G (n.512+13525T>G) c.3451T>G n.6280+13525T>G c.6179T>G (p.Val2060Gly) c.5669T>G (p.Val1890Gly) c.4109T>G (p.Val1370Gly) c.4100T>G (p.Val1367Gly) n.6266+13525T>G | |
2 | g.15218897A>G | CA345884752 | NBAS | c.4294T>C c.4426+13525T>C c.819T>C c.2164T>C c.6308T>C (p.Val2103Ala) c.512+13525T>C (n.512+13525T>C) c.3451T>C n.6280+13525T>C c.6179T>C (p.Val2060Ala) c.5669T>C (p.Val1890Ala) c.4109T>C (p.Val1370Ala) c.4100T>C (p.Val1367Ala) n.6266+13525T>C | |
2 | g.15218897A>T | CA345884755 | NBAS | c.4294T>A c.4426+13525T>A c.819T>A c.2164T>A c.6308T>A (p.Val2103Glu) c.512+13525T>A (n.512+13525T>A) c.3451T>A n.6280+13525T>A c.6179T>A (p.Val2060Glu) c.5669T>A (p.Val1890Glu) c.4109T>A (p.Val1370Glu) c.4100T>A (p.Val1367Glu) n.6266+13525T>A | |
2 | g.15218897_15218898delinsAC | CA2490796236 | NBAS | c.4293_4294delinsGT c.4426+13524_4426+13525delinsGT c.818_819delinsGT c.2163_2164delinsGT c.6307_6308delinsGT (p.Val2103=) c.512+13524_512+13525delinsGT (n.512+13524_512+13525delinsGT) c.3450_3451delinsGT n.6280+13524_6280+13525delinsGT c.6178_6179delinsGT (p.Val2060=) c.5668_5669delinsGT (p.Val1890=) c.4108_4109delinsGT (p.Val1370=) c.4099_4100delinsGT (p.Val1367=) n.6266+13524_6266+13525delinsGT | |
2 | g.15218898C>A | CA345884759 | NBAS | c.4293G>T c.4426+13524G>T c.818G>T c.2163G>T c.6307G>T (p.Val2103Leu) c.512+13524G>T (n.512+13524G>T) c.3450G>T n.6280+13524G>T c.6178G>T (p.Val2060Leu) c.5668G>T (p.Val1890Leu) c.4108G>T (p.Val1370Leu) c.4099G>T (p.Val1367Leu) n.6266+13524G>T | gnomAD v4 |
2 | g.15218898C= | CA2490796237 | NBAS | c.4293G= c.4426+13524G= c.818G= c.2163G= c.6307G= (p.Val2103=) c.512+13524G= (n.512+13524G=) c.3450G= n.6280+13524G= c.6178G= (p.Val2060=) c.5668G= (p.Val1890=) c.4108G= (p.Val1370=) c.4099G= (p.Val1367=) n.6266+13524G= | |
2 | g.15218898C>G | CA1535044 | NBAS | c.4293G>C c.4426+13524G>C c.818G>C c.2163G>C c.6307G>C (p.Val2103Leu) c.512+13524G>C (n.512+13524G>C) c.3450G>C n.6280+13524G>C c.6178G>C (p.Val2060Leu) c.5668G>C (p.Val1890Leu) c.4108G>C (p.Val1370Leu) c.4099G>C (p.Val1367Leu) n.6266+13524G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218898C>T | CA42584460 | NBAS | c.4293G>A c.4426+13524G>A c.818G>A c.2163G>A c.6307G>A (p.Val2103Met) c.512+13524G>A (n.512+13524G>A) c.3450G>A n.6280+13524G>A c.6178G>A (p.Val2060Met) c.5668G>A (p.Val1890Met) c.4108G>A (p.Val1370Met) c.4099G>A (p.Val1367Met) n.6266+13524G>A | dbSNP gnomAD v4 |
2 | g.15218899del | CA758915144 | NBAS | c.4293del c.4426+13524del c.818del c.2163del c.6307del (p.Val2103CysfsTer17) c.512+13524del (n.512+13524del) c.3450del n.6280+13524del c.6178del (p.Val2060CysfsTer17) c.5668del (p.Val1890CysfsTer17) c.4108del (p.Val1370CysfsTer17) c.4099del (p.Val1367CysfsTer17) n.6266+13524del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218899C>A | CA424866972 | NBAS | c.4292G>T c.4426+13523G>T c.817G>T c.2162G>T c.6306G>T (p.Pro2102=) c.512+13523G>T (n.512+13523G>T) c.3449G>T n.6280+13523G>T c.6177G>T (p.Pro2059=) c.5667G>T (p.Pro1889=) c.4107G>T (p.Pro1369=) c.4098G>T (p.Pro1366=) n.6266+13523G>T | dbSNP gnomAD v4 |
2 | g.15218899C= | CA2490796238 | NBAS | c.4292G= c.4426+13523G= c.817G= c.2162G= c.6306G= (p.Pro2102=) c.512+13523G= (n.512+13523G=) c.3449G= n.6280+13523G= c.6177G= (p.Pro2059=) c.5667G= (p.Pro1889=) c.4107G= (p.Pro1369=) c.4098G= (p.Pro1366=) n.6266+13523G= | |
2 | g.15218899C>G | CA424866973 | NBAS | c.4292G>C c.4426+13523G>C c.817G>C c.2162G>C c.6306G>C (p.Pro2102=) c.512+13523G>C (n.512+13523G>C) c.3449G>C n.6280+13523G>C c.6177G>C (p.Pro2059=) c.5667G>C (p.Pro1889=) c.4107G>C (p.Pro1369=) c.4098G>C (p.Pro1366=) n.6266+13523G>C | gnomAD v4 |
2 | g.15218899C>T | CA1535045 | NBAS | c.4292G>A c.4426+13523G>A c.817G>A c.2162G>A c.6306G>A (p.Pro2102=) c.512+13523G>A (n.512+13523G>A) c.3449G>A n.6280+13523G>A c.6177G>A (p.Pro2059=) c.5667G>A (p.Pro1889=) c.4107G>A (p.Pro1369=) c.4098G>A (p.Pro1366=) n.6266+13523G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218901_15218908del | CA2576680242 | NBAS | c.4285_4292del c.4426+13516_4426+13523del c.810_817del c.2155_2162del c.6299_6306del (p.Ala2100GlyfsTer19) c.512+13516_512+13523del (n.512+13516_512+13523del) c.3442_3449del n.6280+13516_6280+13523del c.6170_6177del (p.Ala2057GlyfsTer19) c.5660_5667del (p.Ala1887GlyfsTer19) c.4100_4107del (p.Ala1367GlyfsTer19) c.4091_4098del (p.Ala1364GlyfsTer19) n.6266+13516_6266+13523del | gnomAD v4 |
2 | g.15218900G>A | CA1535047 | NBAS | c.4291C>T c.4426+13522C>T c.816C>T c.2161C>T c.6305C>T (p.Pro2102Leu) c.512+13522C>T (n.512+13522C>T) c.3448C>T n.6280+13522C>T c.6176C>T (p.Pro2059Leu) c.5666C>T (p.Pro1889Leu) c.4106C>T (p.Pro1369Leu) c.4097C>T (p.Pro1366Leu) n.6266+13522C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15218900G>C | CA1535046 | NBAS | c.4291C>G c.4426+13522C>G c.816C>G c.2161C>G c.6305C>G (p.Pro2102Arg) c.512+13522C>G (n.512+13522C>G) c.3448C>G n.6280+13522C>G c.6176C>G (p.Pro2059Arg) c.5666C>G (p.Pro1889Arg) c.4106C>G (p.Pro1369Arg) c.4097C>G (p.Pro1366Arg) n.6266+13522C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218900G= | CA2490796239 | NBAS | c.4291C= c.4426+13522C= c.816C= c.2161C= c.6305C= (p.Pro2102=) c.512+13522C= (n.512+13522C=) c.3448C= n.6280+13522C= c.6176C= (p.Pro2059=) c.5666C= (p.Pro1889=) c.4106C= (p.Pro1369=) c.4097C= (p.Pro1366=) n.6266+13522C= | |
2 | g.15218900G>T | CA345884772 | NBAS | c.4291C>A c.4426+13522C>A c.816C>A c.2161C>A c.6305C>A (p.Pro2102Gln) c.512+13522C>A (n.512+13522C>A) c.3448C>A n.6280+13522C>A c.6176C>A (p.Pro2059Gln) c.5666C>A (p.Pro1889Gln) c.4106C>A (p.Pro1369Gln) c.4097C>A (p.Pro1366Gln) n.6266+13522C>A | gnomAD v4 |
2 | g.15218901G>A | CA42584487 | NBAS | c.4290C>T c.4426+13521C>T c.815C>T c.2160C>T c.6304C>T (p.Pro2102Ser) c.512+13521C>T (n.512+13521C>T) c.3447C>T n.6280+13521C>T c.6175C>T (p.Pro2059Ser) c.5665C>T (p.Pro1889Ser) c.4105C>T (p.Pro1369Ser) c.4096C>T (p.Pro1366Ser) n.6266+13521C>T | dbSNP |
2 | g.15218901G>C | CA345884781 | NBAS | c.4290C>G c.4426+13521C>G c.815C>G c.2160C>G c.6304C>G (p.Pro2102Ala) c.512+13521C>G (n.512+13521C>G) c.3447C>G n.6280+13521C>G c.6175C>G (p.Pro2059Ala) c.5665C>G (p.Pro1889Ala) c.4105C>G (p.Pro1369Ala) c.4096C>G (p.Pro1366Ala) n.6266+13521C>G | |
2 | g.15218901G= | CA2490796240 | NBAS | c.4290C= c.4426+13521C= c.815C= c.2160C= c.6304C= (p.Pro2102=) c.512+13521C= (n.512+13521C=) c.3447C= n.6280+13521C= c.6175C= (p.Pro2059=) c.5665C= (p.Pro1889=) c.4105C= (p.Pro1369=) c.4096C= (p.Pro1366=) n.6266+13521C= | |
2 | g.15218901G>T | CA345884783 | NBAS | c.4290C>A c.4426+13521C>A c.815C>A c.2160C>A c.6304C>A (p.Pro2102Thr) c.512+13521C>A (n.512+13521C>A) c.3447C>A n.6280+13521C>A c.6175C>A (p.Pro2059Thr) c.5665C>A (p.Pro1889Thr) c.4105C>A (p.Pro1369Thr) c.4096C>A (p.Pro1366Thr) n.6266+13521C>A | |
2 | g.15218902C>A | CA345884788 | NBAS | c.4289G>T c.4426+13520G>T c.814G>T c.2159G>T c.6303G>T (p.Trp2101Cys) c.512+13520G>T (n.512+13520G>T) c.3446G>T n.6280+13520G>T c.6174G>T (p.Trp2058Cys) c.5664G>T (p.Trp1888Cys) c.4104G>T (p.Trp1368Cys) c.4095G>T (p.Trp1365Cys) n.6266+13520G>T | gnomAD v4 |
2 | g.15218902C>G | CA345884790 | NBAS | c.4289G>C c.4426+13520G>C c.814G>C c.2159G>C c.6303G>C (p.Trp2101Cys) c.512+13520G>C (n.512+13520G>C) c.3446G>C n.6280+13520G>C c.6174G>C (p.Trp2058Cys) c.5664G>C (p.Trp1888Cys) c.4104G>C (p.Trp1368Cys) c.4095G>C (p.Trp1365Cys) n.6266+13520G>C | |
2 | g.15218902C>T | CA345884793 | NBAS | c.4289G>A c.4426+13520G>A c.814G>A c.2159G>A c.6303G>A (p.Trp2101Ter) c.512+13520G>A (n.512+13520G>A) c.3446G>A n.6280+13520G>A c.6174G>A (p.Trp2058Ter) c.5664G>A (p.Trp1888Ter) c.4104G>A (p.Trp1368Ter) c.4095G>A (p.Trp1365Ter) n.6266+13520G>A | |
2 | g.15218903C>A | CA345884795 | NBAS | c.4288G>T c.4426+13519G>T c.813G>T c.2158G>T c.6302G>T (p.Trp2101Leu) c.512+13519G>T (n.512+13519G>T) c.3445G>T n.6280+13519G>T c.6173G>T (p.Trp2058Leu) c.5663G>T (p.Trp1888Leu) c.4103G>T (p.Trp1368Leu) c.4094G>T (p.Trp1365Leu) n.6266+13519G>T | |
2 | g.15218903C>G | CA345884799 | NBAS | c.4288G>C c.4426+13519G>C c.813G>C c.2158G>C c.6302G>C (p.Trp2101Ser) c.512+13519G>C (n.512+13519G>C) c.3445G>C n.6280+13519G>C c.6173G>C (p.Trp2058Ser) c.5663G>C (p.Trp1888Ser) c.4103G>C (p.Trp1368Ser) c.4094G>C (p.Trp1365Ser) n.6266+13519G>C | |
2 | g.15218903C>T | CA345884802 | NBAS | c.4288G>A c.4426+13519G>A c.813G>A c.2158G>A c.6302G>A (p.Trp2101Ter) c.512+13519G>A (n.512+13519G>A) c.3445G>A n.6280+13519G>A c.6173G>A (p.Trp2058Ter) c.5663G>A (p.Trp1888Ter) c.4103G>A (p.Trp1368Ter) c.4094G>A (p.Trp1365Ter) n.6266+13519G>A | |
2 | g.15218904A= | CA2490796241 | NBAS | c.4287T= c.4426+13518T= c.812T= c.2157T= c.6301T= (p.Trp2101=) c.512+13518T= (n.512+13518T=) c.3444T= n.6280+13518T= c.6172T= (p.Trp2058=) c.5662T= (p.Trp1888=) c.4102T= (p.Trp1368=) c.4093T= (p.Trp1365=) n.6266+13518T= | |
2 | g.15218904A>C | CA345884806 | NBAS | c.4287T>G c.4426+13518T>G c.812T>G c.2157T>G c.6301T>G (p.Trp2101Gly) c.512+13518T>G (n.512+13518T>G) c.3444T>G n.6280+13518T>G c.6172T>G (p.Trp2058Gly) c.5662T>G (p.Trp1888Gly) c.4102T>G (p.Trp1368Gly) c.4093T>G (p.Trp1365Gly) n.6266+13518T>G | |
2 | g.15218904A>G | CA345884809 | NBAS | c.4287T>C c.4426+13518T>C c.812T>C c.2157T>C c.6301T>C (p.Trp2101Arg) c.512+13518T>C (n.512+13518T>C) c.3444T>C n.6280+13518T>C c.6172T>C (p.Trp2058Arg) c.5662T>C (p.Trp1888Arg) c.4102T>C (p.Trp1368Arg) c.4093T>C (p.Trp1365Arg) n.6266+13518T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218904A>T | CA345884805 | NBAS | c.4287T>A c.4426+13518T>A c.812T>A c.2157T>A c.6301T>A (p.Trp2101Arg) c.512+13518T>A (n.512+13518T>A) c.3444T>A n.6280+13518T>A c.6172T>A (p.Trp2058Arg) c.5662T>A (p.Trp1888Arg) c.4102T>A (p.Trp1368Arg) c.4093T>A (p.Trp1365Arg) n.6266+13518T>A | |
2 | g.15218905G>A | CA424866974 | NBAS | c.4286C>T c.4426+13517C>T c.811C>T c.2156C>T c.6300C>T (p.Ala2100=) c.512+13517C>T (n.512+13517C>T) c.3443C>T n.6280+13517C>T c.6171C>T (p.Ala2057=) c.5661C>T (p.Ala1887=) c.4101C>T (p.Ala1367=) c.4092C>T (p.Ala1364=) n.6266+13517C>T | |
2 | g.15218905G>C | CA424866975 | NBAS | c.4286C>G c.4426+13517C>G c.811C>G c.2156C>G c.6300C>G (p.Ala2100=) c.512+13517C>G (n.512+13517C>G) c.3443C>G n.6280+13517C>G c.6171C>G (p.Ala2057=) c.5661C>G (p.Ala1887=) c.4101C>G (p.Ala1367=) c.4092C>G (p.Ala1364=) n.6266+13517C>G | |
2 | g.15218905G>T | CA424866976 | NBAS | c.4286C>A c.4426+13517C>A c.811C>A c.2156C>A c.6300C>A (p.Ala2100=) c.512+13517C>A (n.512+13517C>A) c.3443C>A n.6280+13517C>A c.6171C>A (p.Ala2057=) c.5661C>A (p.Ala1887=) c.4101C>A (p.Ala1367=) c.4092C>A (p.Ala1364=) n.6266+13517C>A | ClinVar gnomAD v4 |
2 | g.15218906G>A | CA345884813 | NBAS | c.4285C>T c.4426+13516C>T c.810C>T c.2155C>T c.6299C>T (p.Ala2100Val) c.512+13516C>T (n.512+13516C>T) c.3442C>T n.6280+13516C>T c.6170C>T (p.Ala2057Val) c.5660C>T (p.Ala1887Val) c.4100C>T (p.Ala1367Val) c.4091C>T (p.Ala1364Val) n.6266+13516C>T | |
2 | g.15218906G>C | CA345884815 | NBAS | c.4285C>G c.4426+13516C>G c.810C>G c.2155C>G c.6299C>G (p.Ala2100Gly) c.512+13516C>G (n.512+13516C>G) c.3442C>G n.6280+13516C>G c.6170C>G (p.Ala2057Gly) c.5660C>G (p.Ala1887Gly) c.4100C>G (p.Ala1367Gly) c.4091C>G (p.Ala1364Gly) n.6266+13516C>G | gnomAD v4 |
2 | g.15218906G>T | CA345884818 | NBAS | c.4285C>A c.4426+13516C>A c.810C>A c.2155C>A c.6299C>A (p.Ala2100Asp) c.512+13516C>A (n.512+13516C>A) c.3442C>A n.6280+13516C>A c.6170C>A (p.Ala2057Asp) c.5660C>A (p.Ala1887Asp) c.4100C>A (p.Ala1367Asp) c.4091C>A (p.Ala1364Asp) n.6266+13516C>A | |
2 | g.15218907C>A | CA1535049 | NBAS | c.4284G>T c.4426+13515G>T c.809G>T c.2154G>T c.6298G>T (p.Ala2100Ser) c.512+13515G>T (n.512+13515G>T) c.3441G>T n.6280+13515G>T c.6169G>T (p.Ala2057Ser) c.5659G>T (p.Ala1887Ser) c.4099G>T (p.Ala1367Ser) c.4090G>T (p.Ala1364Ser) n.6266+13515G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218907C= | CA2490796242 | NBAS | c.4284G= c.4426+13515G= c.809G= c.2154G= c.6298G= (p.Ala2100=) c.512+13515G= (n.512+13515G=) c.3441G= n.6280+13515G= c.6169G= (p.Ala2057=) c.5659G= (p.Ala1887=) c.4099G= (p.Ala1367=) c.4090G= (p.Ala1364=) n.6266+13515G= | |
2 | g.15218907C>G | CA345884822 | NBAS | c.4284G>C c.4426+13515G>C c.809G>C c.2154G>C c.6298G>C (p.Ala2100Pro) c.512+13515G>C (n.512+13515G>C) c.3441G>C n.6280+13515G>C c.6169G>C (p.Ala2057Pro) c.5659G>C (p.Ala1887Pro) c.4099G>C (p.Ala1367Pro) c.4090G>C (p.Ala1364Pro) n.6266+13515G>C | gnomAD v4 |
2 | g.15218907C>T | CA1535048 | NBAS | c.4284G>A c.4426+13515G>A c.809G>A c.2154G>A c.6298G>A (p.Ala2100Thr) c.512+13515G>A (n.512+13515G>A) c.3441G>A n.6280+13515G>A c.6169G>A (p.Ala2057Thr) c.5659G>A (p.Ala1887Thr) c.4099G>A (p.Ala1367Thr) c.4090G>A (p.Ala1364Thr) n.6266+13515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218908G>A | CA424866977 | NBAS | c.4283C>T c.4426+13514C>T c.808C>T c.2153C>T c.6297C>T (p.Asp2099=) c.512+13514C>T (n.512+13514C>T) c.3440C>T n.6280+13514C>T c.6168C>T (p.Asp2056=) c.5658C>T (p.Asp1886=) c.4098C>T (p.Asp1366=) c.4089C>T (p.Asp1363=) n.6266+13514C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15218908G>C | CA345884826 | NBAS | c.4283C>G c.4426+13514C>G c.808C>G c.2153C>G c.6297C>G (p.Asp2099Glu) c.512+13514C>G (n.512+13514C>G) c.3440C>G n.6280+13514C>G c.6168C>G (p.Asp2056Glu) c.5658C>G (p.Asp1886Glu) c.4098C>G (p.Asp1366Glu) c.4089C>G (p.Asp1363Glu) n.6266+13514C>G | |
2 | g.15218908G= | CA2490796243 | NBAS | c.4283C= c.4426+13514C= c.808C= c.2153C= c.6297C= (p.Asp2099=) c.512+13514C= (n.512+13514C=) c.3440C= n.6280+13514C= c.6168C= (p.Asp2056=) c.5658C= (p.Asp1886=) c.4098C= (p.Asp1366=) c.4089C= (p.Asp1363=) n.6266+13514C= | |
2 | g.15218908G>T | CA345884827 | NBAS | c.4283C>A c.4426+13514C>A c.808C>A c.2153C>A c.6297C>A (p.Asp2099Glu) c.512+13514C>A (n.512+13514C>A) c.3440C>A n.6280+13514C>A c.6168C>A (p.Asp2056Glu) c.5658C>A (p.Asp1886Glu) c.4098C>A (p.Asp1366Glu) c.4089C>A (p.Asp1363Glu) n.6266+13514C>A | |
2 | g.15218909T>A | CA345884830 | NBAS | c.4282A>T c.4426+13513A>T c.807A>T c.2152A>T c.6296A>T (p.Asp2099Val) c.512+13513A>T (n.512+13513A>T) c.3439A>T n.6280+13513A>T c.6167A>T (p.Asp2056Val) c.5657A>T (p.Asp1886Val) c.4097A>T (p.Asp1366Val) c.4088A>T (p.Asp1363Val) n.6266+13513A>T | gnomAD v4 |
2 | g.15218909T>C | CA345884834 | NBAS | c.4282A>G c.4426+13513A>G c.807A>G c.2152A>G c.6296A>G (p.Asp2099Gly) c.512+13513A>G (n.512+13513A>G) c.3439A>G n.6280+13513A>G c.6167A>G (p.Asp2056Gly) c.5657A>G (p.Asp1886Gly) c.4097A>G (p.Asp1366Gly) c.4088A>G (p.Asp1363Gly) n.6266+13513A>G | |
2 | g.15218909T>G | CA345884835 | NBAS | c.4282A>C c.4426+13513A>C c.807A>C c.2152A>C c.6296A>C (p.Asp2099Ala) c.512+13513A>C (n.512+13513A>C) c.3439A>C n.6280+13513A>C c.6167A>C (p.Asp2056Ala) c.5657A>C (p.Asp1886Ala) c.4097A>C (p.Asp1366Ala) c.4088A>C (p.Asp1363Ala) n.6266+13513A>C | |
2 | g.15218910C>A | CA345884838 | NBAS | c.4281G>T c.4426+13512G>T c.806G>T c.2151G>T c.6295G>T (p.Asp2099Tyr) c.512+13512G>T (n.512+13512G>T) c.3438G>T n.6280+13512G>T c.6166G>T (p.Asp2056Tyr) c.5656G>T (p.Asp1886Tyr) c.4096G>T (p.Asp1366Tyr) c.4087G>T (p.Asp1363Tyr) n.6266+13512G>T | dbSNP |
2 | g.15218910C= | CA2490796244 | NBAS | c.4281G= c.4426+13512G= c.806G= c.2151G= c.6295G= (p.Asp2099=) c.512+13512G= (n.512+13512G=) c.3438G= n.6280+13512G= c.6166G= (p.Asp2056=) c.5656G= (p.Asp1886=) c.4096G= (p.Asp1366=) c.4087G= (p.Asp1363=) n.6266+13512G= | |
2 | g.15218910C>G | CA345884840 | NBAS | c.4281G>C c.4426+13512G>C c.806G>C c.2151G>C c.6295G>C (p.Asp2099His) c.512+13512G>C (n.512+13512G>C) c.3438G>C n.6280+13512G>C c.6166G>C (p.Asp2056His) c.5656G>C (p.Asp1886His) c.4096G>C (p.Asp1366His) c.4087G>C (p.Asp1363His) n.6266+13512G>C | |
2 | g.15218910C>T | CA345884837 | NBAS | c.4281G>A c.4426+13512G>A c.806G>A c.2151G>A c.6295G>A (p.Asp2099Asn) c.512+13512G>A (n.512+13512G>A) c.3438G>A n.6280+13512G>A c.6166G>A (p.Asp2056Asn) c.5656G>A (p.Asp1886Asn) c.4096G>A (p.Asp1366Asn) c.4087G>A (p.Asp1363Asn) n.6266+13512G>A | |
2 | g.15218911A>C | CA345884842 | NBAS | c.4280T>G c.4426+13511T>G c.805T>G c.2150T>G c.6294T>G (p.Asp2098Glu) c.512+13511T>G (n.512+13511T>G) c.3437T>G n.6280+13511T>G c.6165T>G (p.Asp2055Glu) c.5655T>G (p.Asp1885Glu) c.4095T>G (p.Asp1365Glu) c.4086T>G (p.Asp1362Glu) n.6266+13511T>G | |
2 | g.15218911A>G | CA424866978 | NBAS | c.4280T>C c.4426+13511T>C c.805T>C c.2150T>C c.6294T>C (p.Asp2098=) c.512+13511T>C (n.512+13511T>C) c.3437T>C n.6280+13511T>C c.6165T>C (p.Asp2055=) c.5655T>C (p.Asp1885=) c.4095T>C (p.Asp1365=) c.4086T>C (p.Asp1362=) n.6266+13511T>C | |
2 | g.15218911A>T | CA345884843 | NBAS | c.4280T>A c.4426+13511T>A c.805T>A c.2150T>A c.6294T>A (p.Asp2098Glu) c.512+13511T>A (n.512+13511T>A) c.3437T>A n.6280+13511T>A c.6165T>A (p.Asp2055Glu) c.5655T>A (p.Asp1885Glu) c.4095T>A (p.Asp1365Glu) c.4086T>A (p.Asp1362Glu) n.6266+13511T>A | |
2 | g.15218912T>A | CA345884845 | NBAS | c.4279A>T c.4426+13510A>T c.804A>T c.2149A>T c.6293A>T (p.Asp2098Val) c.512+13510A>T (n.512+13510A>T) c.3436A>T n.6280+13510A>T c.6164A>T (p.Asp2055Val) c.5654A>T (p.Asp1885Val) c.4094A>T (p.Asp1365Val) c.4085A>T (p.Asp1362Val) n.6266+13510A>T | gnomAD v4 |
2 | g.15218912T>C | CA345884846 | NBAS | c.4279A>G c.4426+13510A>G c.804A>G c.2149A>G c.6293A>G (p.Asp2098Gly) c.512+13510A>G (n.512+13510A>G) c.3436A>G n.6280+13510A>G c.6164A>G (p.Asp2055Gly) c.5654A>G (p.Asp1885Gly) c.4094A>G (p.Asp1365Gly) c.4085A>G (p.Asp1362Gly) n.6266+13510A>G | |
2 | g.15218912T>G | CA345884850 | NBAS | c.4279A>C c.4426+13510A>C c.804A>C c.2149A>C c.6293A>C (p.Asp2098Ala) c.512+13510A>C (n.512+13510A>C) c.3436A>C n.6280+13510A>C c.6164A>C (p.Asp2055Ala) c.5654A>C (p.Asp1885Ala) c.4094A>C (p.Asp1365Ala) c.4085A>C (p.Asp1362Ala) n.6266+13510A>C | |
2 | g.15218913C>A | CA345884860 | NBAS | c.4278G>T c.4426+13509G>T c.803G>T c.2148G>T c.6292G>T (p.Asp2098Tyr) c.512+13509G>T (n.512+13509G>T) c.3435G>T n.6280+13509G>T c.6163G>T (p.Asp2055Tyr) c.5653G>T (p.Asp1885Tyr) c.4093G>T (p.Asp1365Tyr) c.4084G>T (p.Asp1362Tyr) n.6266+13509G>T | |
2 | g.15218913C>G | CA345884854 | NBAS | c.4278G>C c.4426+13509G>C c.803G>C c.2148G>C c.6292G>C (p.Asp2098His) c.512+13509G>C (n.512+13509G>C) c.3435G>C n.6280+13509G>C c.6163G>C (p.Asp2055His) c.5653G>C (p.Asp1885His) c.4093G>C (p.Asp1365His) c.4084G>C (p.Asp1362His) n.6266+13509G>C | |
2 | g.15218913C>T | CA345884857 | NBAS | c.4278G>A c.4426+13509G>A c.803G>A c.2148G>A c.6292G>A (p.Asp2098Asn) c.512+13509G>A (n.512+13509G>A) c.3435G>A n.6280+13509G>A c.6163G>A (p.Asp2055Asn) c.5653G>A (p.Asp1885Asn) c.4093G>A (p.Asp1365Asn) c.4084G>A (p.Asp1362Asn) n.6266+13509G>A | |
2 | g.15218914A>C | CA424866979 | NBAS | c.4277T>G c.4426+13508T>G c.802T>G c.2147T>G c.6291T>G (p.Ala2097=) c.512+13508T>G (n.512+13508T>G) c.3434T>G n.6280+13508T>G c.6162T>G (p.Ala2054=) c.5652T>G (p.Ala1884=) c.4092T>G (p.Ala1364=) c.4083T>G (p.Ala1361=) n.6266+13508T>G | |
2 | g.15218914A>G | CA424866980 | NBAS | c.4277T>C c.4426+13508T>C c.802T>C c.2147T>C c.6291T>C (p.Ala2097=) c.512+13508T>C (n.512+13508T>C) c.3434T>C n.6280+13508T>C c.6162T>C (p.Ala2054=) c.5652T>C (p.Ala1884=) c.4092T>C (p.Ala1364=) c.4083T>C (p.Ala1361=) n.6266+13508T>C | gnomAD v4 |
2 | g.15218914A>T | CA424866981 | NBAS | c.4277T>A c.4426+13508T>A c.802T>A c.2147T>A c.6291T>A (p.Ala2097=) c.512+13508T>A (n.512+13508T>A) c.3434T>A n.6280+13508T>A c.6162T>A (p.Ala2054=) c.5652T>A (p.Ala1884=) c.4092T>A (p.Ala1364=) c.4083T>A (p.Ala1361=) n.6266+13508T>A | |
2 | g.15218915G>A | CA1535050 | NBAS | c.4276C>T c.4426+13507C>T c.801C>T c.2146C>T c.6290C>T (p.Ala2097Val) c.512+13507C>T (n.512+13507C>T) c.3433C>T n.6280+13507C>T c.6161C>T (p.Ala2054Val) c.5651C>T (p.Ala1884Val) c.4091C>T (p.Ala1364Val) c.4082C>T (p.Ala1361Val) n.6266+13507C>T | dbSNP ExAC |
2 | g.15218915G>C | CA345884864 | NBAS | c.4276C>G c.4426+13507C>G c.801C>G c.2146C>G c.6290C>G (p.Ala2097Gly) c.512+13507C>G (n.512+13507C>G) c.3433C>G n.6280+13507C>G c.6161C>G (p.Ala2054Gly) c.5651C>G (p.Ala1884Gly) c.4091C>G (p.Ala1364Gly) c.4082C>G (p.Ala1361Gly) n.6266+13507C>G | |
2 | g.15218915G= | CA2490796245 | NBAS | c.4276C= c.4426+13507C= c.801C= c.2146C= c.6290C= (p.Ala2097=) c.512+13507C= (n.512+13507C=) c.3433C= n.6280+13507C= c.6161C= (p.Ala2054=) c.5651C= (p.Ala1884=) c.4091C= (p.Ala1364=) c.4082C= (p.Ala1361=) n.6266+13507C= | |
2 | g.15218915G>T | CA345884873 | NBAS | c.4276C>A c.4426+13507C>A c.801C>A c.2146C>A c.6290C>A (p.Ala2097Asp) c.512+13507C>A (n.512+13507C>A) c.3433C>A n.6280+13507C>A c.6161C>A (p.Ala2054Asp) c.5651C>A (p.Ala1884Asp) c.4091C>A (p.Ala1364Asp) c.4082C>A (p.Ala1361Asp) n.6266+13507C>A | |
2 | g.15218916C>A | CA345884874 | NBAS | c.4275G>T c.4426+13506G>T c.800G>T c.2145G>T c.6289G>T (p.Ala2097Ser) c.512+13506G>T (n.512+13506G>T) c.3432G>T n.6280+13506G>T c.6160G>T (p.Ala2054Ser) c.5650G>T (p.Ala1884Ser) c.4090G>T (p.Ala1364Ser) c.4081G>T (p.Ala1361Ser) n.6266+13506G>T | |
2 | g.15218916C>G | CA345884875 | NBAS | c.4275G>C c.4426+13506G>C c.800G>C c.2145G>C c.6289G>C (p.Ala2097Pro) c.512+13506G>C (n.512+13506G>C) c.3432G>C n.6280+13506G>C c.6160G>C (p.Ala2054Pro) c.5650G>C (p.Ala1884Pro) c.4090G>C (p.Ala1364Pro) c.4081G>C (p.Ala1361Pro) n.6266+13506G>C | |
2 | g.15218916C>T | CA345884876 | NBAS | c.4275G>A c.4426+13506G>A c.800G>A c.2145G>A c.6289G>A (p.Ala2097Thr) c.512+13506G>A (n.512+13506G>A) c.3432G>A n.6280+13506G>A c.6160G>A (p.Ala2054Thr) c.5650G>A (p.Ala1884Thr) c.4090G>A (p.Ala1364Thr) c.4081G>A (p.Ala1361Thr) n.6266+13506G>A | ClinVar gnomAD v4 |
2 | g.15218917A>C | CA345884878 | NBAS | c.4274T>G c.4426+13505T>G c.799T>G c.2144T>G c.6288T>G (p.Cys2096Trp) c.512+13505T>G (n.512+13505T>G) c.3431T>G n.6280+13505T>G c.6159T>G (p.Cys2053Trp) c.5649T>G (p.Cys1883Trp) c.4089T>G (p.Cys1363Trp) c.4080T>G (p.Cys1360Trp) n.6266+13505T>G | |
2 | g.15218917A>G | CA424866982 | NBAS | c.4274T>C c.4426+13505T>C c.799T>C c.2144T>C c.6288T>C (p.Cys2096=) c.512+13505T>C (n.512+13505T>C) c.3431T>C n.6280+13505T>C c.6159T>C (p.Cys2053=) c.5649T>C (p.Cys1883=) c.4089T>C (p.Cys1363=) c.4080T>C (p.Cys1360=) n.6266+13505T>C | |
2 | g.15218917A>T | CA345884880 | NBAS | c.4274T>A c.4426+13505T>A c.799T>A c.2144T>A c.6288T>A (p.Cys2096Ter) c.512+13505T>A (n.512+13505T>A) c.3431T>A n.6280+13505T>A c.6159T>A (p.Cys2053Ter) c.5649T>A (p.Cys1883Ter) c.4089T>A (p.Cys1363Ter) c.4080T>A (p.Cys1360Ter) n.6266+13505T>A | |
2 | g.15218918C>A | CA345884885 | NBAS | c.4273G>T c.4426+13504G>T c.798G>T c.2143G>T c.6287G>T (p.Cys2096Phe) c.512+13504G>T (n.512+13504G>T) c.3430G>T n.6280+13504G>T c.6158G>T (p.Cys2053Phe) c.5648G>T (p.Cys1883Phe) c.4088G>T (p.Cys1363Phe) c.4079G>T (p.Cys1360Phe) n.6266+13504G>T | |
2 | g.15218918C= | CA2490796246 | NBAS | c.4273G= c.4426+13504G= c.798G= c.2143G= c.6287G= (p.Cys2096=) c.512+13504G= (n.512+13504G=) c.3430G= n.6280+13504G= c.6158G= (p.Cys2053=) c.5648G= (p.Cys1883=) c.4088G= (p.Cys1363=) c.4079G= (p.Cys1360=) n.6266+13504G= | |
2 | g.15218918C>G | CA345884890 | NBAS | c.4273G>C c.4426+13504G>C c.798G>C c.2143G>C c.6287G>C (p.Cys2096Ser) c.512+13504G>C (n.512+13504G>C) c.3430G>C n.6280+13504G>C c.6158G>C (p.Cys2053Ser) c.5648G>C (p.Cys1883Ser) c.4088G>C (p.Cys1363Ser) c.4079G>C (p.Cys1360Ser) n.6266+13504G>C | |
2 | g.15218918C>T | CA345884888 | NBAS | c.4273G>A c.4426+13504G>A c.798G>A c.2143G>A c.6287G>A (p.Cys2096Tyr) c.512+13504G>A (n.512+13504G>A) c.3430G>A n.6280+13504G>A c.6158G>A (p.Cys2053Tyr) c.5648G>A (p.Cys1883Tyr) c.4088G>A (p.Cys1363Tyr) c.4079G>A (p.Cys1360Tyr) n.6266+13504G>A | dbSNP gnomAD v4 |
2 | g.15218919A= | CA2490796247 | NBAS | c.4272T= c.4426+13503T= c.797T= c.2142T= c.6286T= (p.Cys2096=) c.512+13503T= (n.512+13503T=) c.3429T= n.6280+13503T= c.6157T= (p.Cys2053=) c.5647T= (p.Cys1883=) c.4087T= (p.Cys1363=) c.4078T= (p.Cys1360=) n.6266+13503T= | |
2 | g.15218919A>C | CA345884892 | NBAS | c.4272T>G c.4426+13503T>G c.797T>G c.2142T>G c.6286T>G (p.Cys2096Gly) c.512+13503T>G (n.512+13503T>G) c.3429T>G n.6280+13503T>G c.6157T>G (p.Cys2053Gly) c.5647T>G (p.Cys1883Gly) c.4087T>G (p.Cys1363Gly) c.4078T>G (p.Cys1360Gly) n.6266+13503T>G | |
2 | g.15218919A>G | CA345884894 | NBAS | c.4272T>C c.4426+13503T>C c.797T>C c.2142T>C c.6286T>C (p.Cys2096Arg) c.512+13503T>C (n.512+13503T>C) c.3429T>C n.6280+13503T>C c.6157T>C (p.Cys2053Arg) c.5647T>C (p.Cys1883Arg) c.4087T>C (p.Cys1363Arg) c.4078T>C (p.Cys1360Arg) n.6266+13503T>C | |
2 | g.15218919A>T | CA345884898 | NBAS | c.4272T>A c.4426+13503T>A c.797T>A c.2142T>A c.6286T>A (p.Cys2096Ser) c.512+13503T>A (n.512+13503T>A) c.3429T>A n.6280+13503T>A c.6157T>A (p.Cys2053Ser) c.5647T>A (p.Cys1883Ser) c.4087T>A (p.Cys1363Ser) c.4078T>A (p.Cys1360Ser) n.6266+13503T>A | |
2 | g.15218920G>A | CA1535051 | NBAS | c.4271C>T c.4426+13502C>T c.796C>T c.2141C>T c.6285C>T (p.Phe2095=) c.512+13502C>T (n.512+13502C>T) c.3428C>T n.6280+13502C>T c.6156C>T (p.Phe2052=) c.5646C>T (p.Phe1882=) c.4086C>T (p.Phe1362=) c.4077C>T (p.Phe1359=) n.6266+13502C>T | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.15218920G>C | CA345884905 | NBAS | c.4271C>G c.4426+13502C>G c.796C>G c.2141C>G c.6285C>G (p.Phe2095Leu) c.512+13502C>G (n.512+13502C>G) c.3428C>G n.6280+13502C>G c.6156C>G (p.Phe2052Leu) c.5646C>G (p.Phe1882Leu) c.4086C>G (p.Phe1362Leu) c.4077C>G (p.Phe1359Leu) n.6266+13502C>G | |
2 | g.15218920G= | CA2490796248 | NBAS | c.4271C= c.4426+13502C= c.796C= c.2141C= c.6285C= (p.Phe2095=) c.512+13502C= (n.512+13502C=) c.3428C= n.6280+13502C= c.6156C= (p.Phe2052=) c.5646C= (p.Phe1882=) c.4086C= (p.Phe1362=) c.4077C= (p.Phe1359=) n.6266+13502C= | |
2 | g.15218920G>T | CA345884908 | NBAS | c.4271C>A c.4426+13502C>A c.796C>A c.2141C>A c.6285C>A (p.Phe2095Leu) c.512+13502C>A (n.512+13502C>A) c.3428C>A n.6280+13502C>A c.6156C>A (p.Phe2052Leu) c.5646C>A (p.Phe1882Leu) c.4086C>A (p.Phe1362Leu) c.4077C>A (p.Phe1359Leu) n.6266+13502C>A | |
2 | g.15218921_15218925dup | CA758915191 | NBAS | c.4267_4271dup c.4426+13498_4426+13502dup c.792_796dup c.2137_2141dup c.6281_6285dup (p.Cys2096LeufsTer26) c.512+13498_512+13502dup (n.512+13498_512+13502dup) c.3424_3428dup n.6280+13498_6280+13502dup c.6152_6156dup (p.Cys2053LeufsTer26) c.5642_5646dup (p.Cys1883LeufsTer26) c.4082_4086dup (p.Cys1363LeufsTer26) c.4073_4077dup (p.Cys1360LeufsTer26) n.6266+13498_6266+13502dup | dbSNP |
2 | g.15218920_15218921insTT | CA531314714 | NBAS | c.4270_4271insAA c.4426+13501_4426+13502insAA c.795_796insAA c.2140_2141insAA c.6284_6285insAA (p.Phe2095LeufsTer26) c.512+13501_512+13502insAA (n.512+13501_512+13502insAA) c.3427_3428insAA n.6280+13501_6280+13502insAA c.6155_6156insAA (p.Phe2052LeufsTer26) c.5645_5646insAA (p.Phe1882LeufsTer26) c.4085_4086insAA (p.Phe1362LeufsTer26) c.4076_4077insAA (p.Phe1359LeufsTer26) n.6266+13501_6266+13502insAA | dbSNP gnomAD v2 |
2 | g.15218921A= | CA2490796249 | NBAS | c.4270T= c.4426+13501T= c.795T= c.2140T= c.6284T= (p.Phe2095=) c.512+13501T= (n.512+13501T=) c.3427T= n.6280+13501T= c.6155T= (p.Phe2052=) c.5645T= (p.Phe1882=) c.4085T= (p.Phe1362=) c.4076T= (p.Phe1359=) n.6266+13501T= | |
2 | g.15218921A>C | CA345884911 | NBAS | c.4270T>G c.4426+13501T>G c.795T>G c.2140T>G c.6284T>G (p.Phe2095Cys) c.512+13501T>G (n.512+13501T>G) c.3427T>G n.6280+13501T>G c.6155T>G (p.Phe2052Cys) c.5645T>G (p.Phe1882Cys) c.4085T>G (p.Phe1362Cys) c.4076T>G (p.Phe1359Cys) n.6266+13501T>G | |
2 | g.15218921A>G | CA1535052 | NBAS | c.4270T>C c.4426+13501T>C c.795T>C c.2140T>C c.6284T>C (p.Phe2095Ser) c.512+13501T>C (n.512+13501T>C) c.3427T>C n.6280+13501T>C c.6155T>C (p.Phe2052Ser) c.5645T>C (p.Phe1882Ser) c.4085T>C (p.Phe1362Ser) c.4076T>C (p.Phe1359Ser) n.6266+13501T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218921A>T | CA345884912 | NBAS | c.4270T>A c.4426+13501T>A c.795T>A c.2140T>A c.6284T>A (p.Phe2095Tyr) c.512+13501T>A (n.512+13501T>A) c.3427T>A n.6280+13501T>A c.6155T>A (p.Phe2052Tyr) c.5645T>A (p.Phe1882Tyr) c.4085T>A (p.Phe1362Tyr) c.4076T>A (p.Phe1359Tyr) n.6266+13501T>A | |
2 | g.15218921_15218922insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG | CA531314715 | NBAS | c.4269_4270insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC c.4426+13500_4426+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC c.794_795insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC c.2139_2140insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe2095SerfsTer41) c.512+13500_512+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (n.512+13500_512+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC) c.3426_3427insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC n.6280+13500_6280+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC c.6154_6155insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe2052SerfsTer41) c.5644_5645insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe1882SerfsTer41) c.4084_4085insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe1362SerfsTer41) c.4075_4076insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe1359SerfsTer41) n.6266+13500_6266+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC | gnomAD v2 |
2 | g.15218922A= | CA2490796250 | NBAS | c.4269T= c.4426+13500T= c.794T= c.2139T= c.6283T= (p.Phe2095=) c.512+13500T= (n.512+13500T=) c.3426T= n.6280+13500T= c.6154T= (p.Phe2052=) c.5644T= (p.Phe1882=) c.4084T= (p.Phe1362=) c.4075T= (p.Phe1359=) n.6266+13500T= | |
2 | g.15218922A>C | CA345884914 | NBAS | c.4269T>G c.4426+13500T>G c.794T>G c.2139T>G c.6283T>G (p.Phe2095Val) c.512+13500T>G (n.512+13500T>G) c.3426T>G n.6280+13500T>G c.6154T>G (p.Phe2052Val) c.5644T>G (p.Phe1882Val) c.4084T>G (p.Phe1362Val) c.4075T>G (p.Phe1359Val) n.6266+13500T>G | |
2 | g.15218922A>G | CA345884917 | NBAS | c.4269T>C c.4426+13500T>C c.794T>C c.2139T>C c.6283T>C (p.Phe2095Leu) c.512+13500T>C (n.512+13500T>C) c.3426T>C n.6280+13500T>C c.6154T>C (p.Phe2052Leu) c.5644T>C (p.Phe1882Leu) c.4084T>C (p.Phe1362Leu) c.4075T>C (p.Phe1359Leu) n.6266+13500T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218922A>T | CA1535053 | NBAS | c.4269T>A c.4426+13500T>A c.794T>A c.2139T>A c.6283T>A (p.Phe2095Ile) c.512+13500T>A (n.512+13500T>A) c.3426T>A n.6280+13500T>A c.6154T>A (p.Phe2052Ile) c.5644T>A (p.Phe1882Ile) c.4084T>A (p.Phe1362Ile) c.4075T>A (p.Phe1359Ile) n.6266+13500T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218923A= | CA2490796251 | NBAS | c.4268T= c.4426+13499T= c.793T= c.2138T= c.6282T= (p.Pro2094=) c.512+13499T= (n.512+13499T=) c.3425T= n.6280+13499T= c.6153T= (p.Pro2051=) c.5643T= (p.Pro1881=) c.4083T= (p.Pro1361=) c.4074T= (p.Pro1358=) n.6266+13499T= | |
2 | g.15218923A>C | CA424866983 | NBAS | c.4268T>G c.4426+13499T>G c.793T>G c.2138T>G c.6282T>G (p.Pro2094=) c.512+13499T>G (n.512+13499T>G) c.3425T>G n.6280+13499T>G c.6153T>G (p.Pro2051=) c.5643T>G (p.Pro1881=) c.4083T>G (p.Pro1361=) c.4074T>G (p.Pro1358=) n.6266+13499T>G | |
2 | g.15218923A>G | CA424866984 | NBAS | c.4268T>C c.4426+13499T>C c.793T>C c.2138T>C c.6282T>C (p.Pro2094=) c.512+13499T>C (n.512+13499T>C) c.3425T>C n.6280+13499T>C c.6153T>C (p.Pro2051=) c.5643T>C (p.Pro1881=) c.4083T>C (p.Pro1361=) c.4074T>C (p.Pro1358=) n.6266+13499T>C | |
2 | g.15218923A>T | CA424866985 | NBAS | c.4268T>A c.4426+13499T>A c.793T>A c.2138T>A c.6282T>A (p.Pro2094=) c.512+13499T>A (n.512+13499T>A) c.3425T>A n.6280+13499T>A c.6153T>A (p.Pro2051=) c.5643T>A (p.Pro1881=) c.4083T>A (p.Pro1361=) c.4074T>A (p.Pro1358=) n.6266+13499T>A | |
2 | g.15218923_15218924insCTCCT | CA531314716 | NBAS | c.4267_4268insAGGAG c.4426+13498_4426+13499insAGGAG c.792_793insAGGAG c.2137_2138insAGGAG c.6281_6282insAGGAG (p.Phe2095GlyfsTer27) c.512+13498_512+13499insAGGAG (n.512+13498_512+13499insAGGAG) c.3424_3425insAGGAG n.6280+13498_6280+13499insAGGAG c.6152_6153insAGGAG (p.Phe2052GlyfsTer27) c.5642_5643insAGGAG (p.Phe1882GlyfsTer27) c.4082_4083insAGGAG (p.Phe1362GlyfsTer27) c.4073_4074insAGGAG (p.Phe1359GlyfsTer27) n.6266+13498_6266+13499insAGGAG | dbSNP gnomAD v2 |
2 | g.15218924G>A | CA1535054 | NBAS | c.4267C>T c.4426+13498C>T c.792C>T c.2137C>T c.6281C>T (p.Pro2094Leu) c.512+13498C>T (n.512+13498C>T) c.3424C>T n.6280+13498C>T c.6152C>T (p.Pro2051Leu) c.5642C>T (p.Pro1881Leu) c.4082C>T (p.Pro1361Leu) c.4073C>T (p.Pro1358Leu) n.6266+13498C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218924G>C | CA345884936 | NBAS | c.4267C>G c.4426+13498C>G c.792C>G c.2137C>G c.6281C>G (p.Pro2094Arg) c.512+13498C>G (n.512+13498C>G) c.3424C>G n.6280+13498C>G c.6152C>G (p.Pro2051Arg) c.5642C>G (p.Pro1881Arg) c.4082C>G (p.Pro1361Arg) c.4073C>G (p.Pro1358Arg) n.6266+13498C>G | ClinVar dbSNP gnomAD v4 |
2 | g.15218924G= | CA2490796252 | NBAS | c.4267C= c.4426+13498C= c.792C= c.2137C= c.6281C= (p.Pro2094=) c.512+13498C= (n.512+13498C=) c.3424C= n.6280+13498C= c.6152C= (p.Pro2051=) c.5642C= (p.Pro1881=) c.4082C= (p.Pro1361=) c.4073C= (p.Pro1358=) n.6266+13498C= | |
2 | g.15218924G>T | CA345884934 | NBAS | c.4267C>A c.4426+13498C>A c.792C>A c.2137C>A c.6281C>A (p.Pro2094His) c.512+13498C>A (n.512+13498C>A) c.3424C>A n.6280+13498C>A c.6152C>A (p.Pro2051His) c.5642C>A (p.Pro1881His) c.4082C>A (p.Pro1361His) c.4073C>A (p.Pro1358His) n.6266+13498C>A | |
2 | g.15218925_15218928del | CA2576680243 | NBAS | c.4264_4267del c.4426+13495_4426+13498del c.789_792del c.2134_2137del c.6278_6281del (p.Arg2093LeufsTer26) c.512+13495_512+13498del (n.512+13495_512+13498del) c.3421_3424del n.6280+13495_6280+13498del c.6149_6152del (p.Arg2050LeufsTer26) c.5639_5642del (p.Arg1880LeufsTer26) c.4079_4082del (p.Arg1360LeufsTer26) c.4070_4073del (p.Arg1357LeufsTer26) n.6266+13495_6266+13498del | |
2 | g.15218925G>A | CA345884939 | NBAS | c.4266C>T c.4426+13497C>T c.791C>T c.2136C>T c.6280C>T (p.Pro2094Ser) c.512+13497C>T (n.512+13497C>T) c.3423C>T n.6280+13497C>T c.6151C>T (p.Pro2051Ser) c.5641C>T (p.Pro1881Ser) c.4081C>T (p.Pro1361Ser) c.4072C>T (p.Pro1358Ser) n.6266+13497C>T | |
2 | g.15218925G>C | CA1535056 | NBAS | c.4266C>G c.4426+13497C>G c.791C>G c.2136C>G c.6280C>G (p.Pro2094Ala) c.512+13497C>G (n.512+13497C>G) c.3423C>G n.6280+13497C>G c.6151C>G (p.Pro2051Ala) c.5641C>G (p.Pro1881Ala) c.4081C>G (p.Pro1361Ala) c.4072C>G (p.Pro1358Ala) n.6266+13497C>G | dbSNP ExAC gnomAD v2 |
2 | g.15218925G= | CA2490796253 | NBAS | c.4266C= c.4426+13497C= c.791C= c.2136C= c.6280C= (p.Pro2094=) c.512+13497C= (n.512+13497C=) c.3423C= n.6280+13497C= c.6151C= (p.Pro2051=) c.5641C= (p.Pro1881=) c.4081C= (p.Pro1361=) c.4072C= (p.Pro1358=) n.6266+13497C= | |
2 | g.15218925G>T | CA1535055 | NBAS | c.4266C>A c.4426+13497C>A c.791C>A c.2136C>A c.6280C>A (p.Pro2094Thr) c.512+13497C>A (n.512+13497C>A) c.3423C>A n.6280+13497C>A c.6151C>A (p.Pro2051Thr) c.5641C>A (p.Pro1881Thr) c.4081C>A (p.Pro1361Thr) c.4072C>A (p.Pro1358Thr) n.6266+13497C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218926C>A | CA424866986 | NBAS | c.4265G>T c.4426+13496G>T c.790G>T c.2135G>T c.6279G>T (p.Arg2093=) c.512+13496G>T (n.512+13496G>T) c.3422G>T n.6280+13496G>T c.6150G>T (p.Arg2050=) c.5640G>T (p.Arg1880=) c.4080G>T (p.Arg1360=) c.4071G>T (p.Arg1357=) n.6266+13496G>T | |
2 | g.15218926C= | CA2490796254 | NBAS | c.4265G= c.4426+13496G= c.790G= c.2135G= c.6279G= (p.Arg2093=) c.512+13496G= (n.512+13496G=) c.3422G= n.6280+13496G= c.6150G= (p.Arg2050=) c.5640G= (p.Arg1880=) c.4080G= (p.Arg1360=) c.4071G= (p.Arg1357=) n.6266+13496G= | |
2 | g.15218926C>G | CA424866987 | NBAS | c.4265G>C c.4426+13496G>C c.790G>C c.2135G>C c.6279G>C (p.Arg2093=) c.512+13496G>C (n.512+13496G>C) c.3422G>C n.6280+13496G>C c.6150G>C (p.Arg2050=) c.5640G>C (p.Arg1880=) c.4080G>C (p.Arg1360=) c.4071G>C (p.Arg1357=) n.6266+13496G>C | |
2 | g.15218926C>T | CA1535057 | NBAS | c.4265G>A c.4426+13496G>A c.790G>A c.2135G>A c.6279G>A (p.Arg2093=) c.512+13496G>A (n.512+13496G>A) c.3422G>A n.6280+13496G>A c.6150G>A (p.Arg2050=) c.5640G>A (p.Arg1880=) c.4080G>A (p.Arg1360=) c.4071G>A (p.Arg1357=) n.6266+13496G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218927C>A | CA345884962 | NBAS | c.4264G>T c.4426+13495G>T c.789G>T c.2134G>T c.6278G>T (p.Arg2093Leu) c.512+13495G>T (n.512+13495G>T) c.3421G>T n.6280+13495G>T c.6149G>T (p.Arg2050Leu) c.5639G>T (p.Arg1880Leu) c.4079G>T (p.Arg1360Leu) c.4070G>T (p.Arg1357Leu) n.6266+13495G>T | |
2 | g.15218927C= | CA2490796255 | NBAS | c.4264G= c.4426+13495G= c.789G= c.2134G= c.6278G= (p.Arg2093=) c.512+13495G= (n.512+13495G=) c.3421G= n.6280+13495G= c.6149G= (p.Arg2050=) c.5639G= (p.Arg1880=) c.4079G= (p.Arg1360=) c.4070G= (p.Arg1357=) n.6266+13495G= | |
2 | g.15218927C>G | CA345884968 | NBAS | c.4264G>C c.4426+13495G>C c.789G>C c.2134G>C c.6278G>C (p.Arg2093Pro) c.512+13495G>C (n.512+13495G>C) c.3421G>C n.6280+13495G>C c.6149G>C (p.Arg2050Pro) c.5639G>C (p.Arg1880Pro) c.4079G>C (p.Arg1360Pro) c.4070G>C (p.Arg1357Pro) n.6266+13495G>C | |
2 | g.15218927C>T | CA1535058 | NBAS | c.4264G>A c.4426+13495G>A c.789G>A c.2134G>A c.6278G>A (p.Arg2093Gln) c.512+13495G>A (n.512+13495G>A) c.3421G>A n.6280+13495G>A c.6149G>A (p.Arg2050Gln) c.5639G>A (p.Arg1880Gln) c.4079G>A (p.Arg1360Gln) c.4070G>A (p.Arg1357Gln) n.6266+13495G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15218928G>A | CA1535060 | NBAS | c.4263C>T c.4426+13494C>T c.788C>T c.2133C>T c.6277C>T (p.Arg2093Trp) c.512+13494C>T (n.512+13494C>T) c.3420C>T n.6280+13494C>T c.6148C>T (p.Arg2050Trp) c.5638C>T (p.Arg1880Trp) c.4078C>T (p.Arg1360Trp) c.4069C>T (p.Arg1357Trp) n.6266+13494C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218928G>C | CA1535059 | NBAS | c.4263C>G c.4426+13494C>G c.788C>G c.2133C>G c.6277C>G (p.Arg2093Gly) c.512+13494C>G (n.512+13494C>G) c.3420C>G n.6280+13494C>G c.6148C>G (p.Arg2050Gly) c.5638C>G (p.Arg1880Gly) c.4078C>G (p.Arg1360Gly) c.4069C>G (p.Arg1357Gly) n.6266+13494C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218928G= | CA2490796256 | NBAS | c.4263C= c.4426+13494C= c.788C= c.2133C= c.6277C= (p.Arg2093=) c.512+13494C= (n.512+13494C=) c.3420C= n.6280+13494C= c.6148C= (p.Arg2050=) c.5638C= (p.Arg1880=) c.4078C= (p.Arg1360=) c.4069C= (p.Arg1357=) n.6266+13494C= | |
2 | g.15218928G>T | CA424866988 | NBAS | c.4263C>A c.4426+13494C>A c.788C>A c.2133C>A c.6277C>A (p.Arg2093=) c.512+13494C>A (n.512+13494C>A) c.3420C>A n.6280+13494C>A c.6148C>A (p.Arg2050=) c.5638C>A (p.Arg1880=) c.4078C>A (p.Arg1360=) c.4069C>A (p.Arg1357=) n.6266+13494C>A | |
2 | g.15218929C>A | CA424866989 | NBAS | c.4262G>T c.4426+13493G>T c.787G>T c.2132G>T c.6276G>T (p.Leu2092=) c.512+13493G>T (n.512+13493G>T) c.3419G>T n.6280+13493G>T c.6147G>T (p.Leu2049=) c.5637G>T (p.Leu1879=) c.4077G>T (p.Leu1359=) c.4068G>T (p.Leu1356=) n.6266+13493G>T | |
2 | g.15218929C= | CA2490796257 | NBAS | c.4262G= c.4426+13493G= c.787G= c.2132G= c.6276G= (p.Leu2092=) c.512+13493G= (n.512+13493G=) c.3419G= n.6280+13493G= c.6147G= (p.Leu2049=) c.5637G= (p.Leu1879=) c.4077G= (p.Leu1359=) c.4068G= (p.Leu1356=) n.6266+13493G= | |
2 | g.15218929C>G | CA424866991 | NBAS | c.4262G>C c.4426+13493G>C c.787G>C c.2132G>C c.6276G>C (p.Leu2092=) c.512+13493G>C (n.512+13493G>C) c.3419G>C n.6280+13493G>C c.6147G>C (p.Leu2049=) c.5637G>C (p.Leu1879=) c.4077G>C (p.Leu1359=) c.4068G>C (p.Leu1356=) n.6266+13493G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218929C>T | CA424866990 | NBAS | c.4262G>A c.4426+13493G>A c.787G>A c.2132G>A c.6276G>A (p.Leu2092=) c.512+13493G>A (n.512+13493G>A) c.3419G>A n.6280+13493G>A c.6147G>A (p.Leu2049=) c.5637G>A (p.Leu1879=) c.4077G>A (p.Leu1359=) c.4068G>A (p.Leu1356=) n.6266+13493G>A | gnomAD v4 |
2 | g.15218930A>C | CA345884987 | NBAS | c.4261T>G c.4426+13492T>G c.786T>G c.2131T>G c.6275T>G (p.Leu2092Arg) c.512+13492T>G (n.512+13492T>G) c.3418T>G n.6280+13492T>G c.6146T>G (p.Leu2049Arg) c.5636T>G (p.Leu1879Arg) c.4076T>G (p.Leu1359Arg) c.4067T>G (p.Leu1356Arg) n.6266+13492T>G | |
2 | g.15218930A>G | CA345884990 | NBAS | c.4261T>C c.4426+13492T>C c.786T>C c.2131T>C c.6275T>C (p.Leu2092Pro) c.512+13492T>C (n.512+13492T>C) c.3418T>C n.6280+13492T>C c.6146T>C (p.Leu2049Pro) c.5636T>C (p.Leu1879Pro) c.4076T>C (p.Leu1359Pro) c.4067T>C (p.Leu1356Pro) n.6266+13492T>C | |
2 | g.15218930A>T | CA345884986 | NBAS | c.4261T>A c.4426+13492T>A c.786T>A c.2131T>A c.6275T>A (p.Leu2092Gln) c.512+13492T>A (n.512+13492T>A) c.3418T>A n.6280+13492T>A c.6146T>A (p.Leu2049Gln) c.5636T>A (p.Leu1879Gln) c.4076T>A (p.Leu1359Gln) c.4067T>A (p.Leu1356Gln) n.6266+13492T>A | |
2 | g.15218931G>A | CA424866992 | NBAS | c.4260C>T c.4426+13491C>T c.785C>T c.2130C>T c.6274C>T (p.Leu2092=) c.512+13491C>T (n.512+13491C>T) c.3417C>T n.6280+13491C>T c.6145C>T (p.Leu2049=) c.5635C>T (p.Leu1879=) c.4075C>T (p.Leu1359=) c.4066C>T (p.Leu1356=) n.6266+13491C>T | |
2 | g.15218931G>C | CA345884994 | NBAS | c.4260C>G c.4426+13491C>G c.785C>G c.2130C>G c.6274C>G (p.Leu2092Val) c.512+13491C>G (n.512+13491C>G) c.3417C>G n.6280+13491C>G c.6145C>G (p.Leu2049Val) c.5635C>G (p.Leu1879Val) c.4075C>G (p.Leu1359Val) c.4066C>G (p.Leu1356Val) n.6266+13491C>G | gnomAD v4 |
2 | g.15218931G>T | CA345884996 | NBAS | c.4260C>A c.4426+13491C>A c.785C>A c.2130C>A c.6274C>A (p.Leu2092Met) c.512+13491C>A (n.512+13491C>A) c.3417C>A n.6280+13491C>A c.6145C>A (p.Leu2049Met) c.5635C>A (p.Leu1879Met) c.4075C>A (p.Leu1359Met) c.4066C>A (p.Leu1356Met) n.6266+13491C>A | |
2 | g.15218932C>A | CA345884999 | NBAS | c.4259G>T c.4426+13490G>T c.784G>T c.2129G>T c.6273G>T (p.Trp2091Cys) c.512+13490G>T (n.512+13490G>T) c.3416G>T n.6280+13490G>T c.6144G>T (p.Trp2048Cys) c.5634G>T (p.Trp1878Cys) c.4074G>T (p.Trp1358Cys) c.4065G>T (p.Trp1355Cys) n.6266+13490G>T | |
2 | g.15218932C>G | CA345885003 | NBAS | c.4259G>C c.4426+13490G>C c.784G>C c.2129G>C c.6273G>C (p.Trp2091Cys) c.512+13490G>C (n.512+13490G>C) c.3416G>C n.6280+13490G>C c.6144G>C (p.Trp2048Cys) c.5634G>C (p.Trp1878Cys) c.4074G>C (p.Trp1358Cys) c.4065G>C (p.Trp1355Cys) n.6266+13490G>C | |
2 | g.15218932C>T | CA345885008 | NBAS | c.4259G>A c.4426+13490G>A c.784G>A c.2129G>A c.6273G>A (p.Trp2091Ter) c.512+13490G>A (n.512+13490G>A) c.3416G>A n.6280+13490G>A c.6144G>A (p.Trp2048Ter) c.5634G>A (p.Trp1878Ter) c.4074G>A (p.Trp1358Ter) c.4065G>A (p.Trp1355Ter) n.6266+13490G>A | |
2 | g.15218933C>A | CA345885018 | NBAS | c.4258G>T c.4426+13489G>T c.783G>T c.2128G>T c.6272G>T (p.Trp2091Leu) c.512+13489G>T (n.512+13489G>T) c.3415G>T n.6280+13489G>T c.6143G>T (p.Trp2048Leu) c.5633G>T (p.Trp1878Leu) c.4073G>T (p.Trp1358Leu) c.4064G>T (p.Trp1355Leu) n.6266+13489G>T | |
2 | g.15218933C>G | CA345885014 | NBAS | c.4258G>C c.4426+13489G>C c.783G>C c.2128G>C c.6272G>C (p.Trp2091Ser) c.512+13489G>C (n.512+13489G>C) c.3415G>C n.6280+13489G>C c.6143G>C (p.Trp2048Ser) c.5633G>C (p.Trp1878Ser) c.4073G>C (p.Trp1358Ser) c.4064G>C (p.Trp1355Ser) n.6266+13489G>C | |
2 | g.15218933C>T | CA345885010 | NBAS | c.4258G>A c.4426+13489G>A c.783G>A c.2128G>A c.6272G>A (p.Trp2091Ter) c.512+13489G>A (n.512+13489G>A) c.3415G>A n.6280+13489G>A c.6143G>A (p.Trp2048Ter) c.5633G>A (p.Trp1878Ter) c.4073G>A (p.Trp1358Ter) c.4064G>A (p.Trp1355Ter) n.6266+13489G>A | |
2 | g.15218934A= | CA2490796258 | NBAS | c.4257T= c.4426+13488T= c.782T= c.2127T= c.6271T= (p.Trp2091=) c.512+13488T= (n.512+13488T=) c.3414T= n.6280+13488T= c.6142T= (p.Trp2048=) c.5632T= (p.Trp1878=) c.4072T= (p.Trp1358=) c.4063T= (p.Trp1355=) n.6266+13488T= | |
2 | g.15218934A>C | CA345885022 | NBAS | c.4257T>G c.4426+13488T>G c.782T>G c.2127T>G c.6271T>G (p.Trp2091Gly) c.512+13488T>G (n.512+13488T>G) c.3414T>G n.6280+13488T>G c.6142T>G (p.Trp2048Gly) c.5632T>G (p.Trp1878Gly) c.4072T>G (p.Trp1358Gly) c.4063T>G (p.Trp1355Gly) n.6266+13488T>G | COSMIC |
2 | g.15218934A>G | CA345885024 | NBAS | c.4257T>C c.4426+13488T>C c.782T>C c.2127T>C c.6271T>C (p.Trp2091Arg) c.512+13488T>C (n.512+13488T>C) c.3414T>C n.6280+13488T>C c.6142T>C (p.Trp2048Arg) c.5632T>C (p.Trp1878Arg) c.4072T>C (p.Trp1358Arg) c.4063T>C (p.Trp1355Arg) n.6266+13488T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218934A>T | CA345885026 | NBAS | c.4257T>A c.4426+13488T>A c.782T>A c.2127T>A c.6271T>A (p.Trp2091Arg) c.512+13488T>A (n.512+13488T>A) c.3414T>A n.6280+13488T>A c.6142T>A (p.Trp2048Arg) c.5632T>A (p.Trp1878Arg) c.4072T>A (p.Trp1358Arg) c.4063T>A (p.Trp1355Arg) n.6266+13488T>A | gnomAD v4 |
2 | g.15218935C>A | CA345885028 | NBAS | c.4256G>T c.4426+13487G>T c.781G>T c.2126G>T c.6270G>T (p.Glu2090Asp) c.512+13487G>T (n.512+13487G>T) c.3413G>T n.6280+13487G>T c.6141G>T (p.Glu2047Asp) c.5631G>T (p.Glu1877Asp) c.4071G>T (p.Glu1357Asp) c.4062G>T (p.Glu1354Asp) n.6266+13487G>T | gnomAD v4 |
2 | g.15218935C= | CA2490796259 | NBAS | c.4256G= c.4426+13487G= c.781G= c.2126G= c.6270G= (p.Glu2090=) c.512+13487G= (n.512+13487G=) c.3413G= n.6280+13487G= c.6141G= (p.Glu2047=) c.5631G= (p.Glu1877=) c.4071G= (p.Glu1357=) c.4062G= (p.Glu1354=) n.6266+13487G= | |
2 | g.15218935C>G | CA345885030 | NBAS | c.4256G>C c.4426+13487G>C c.781G>C c.2126G>C c.6270G>C (p.Glu2090Asp) c.512+13487G>C (n.512+13487G>C) c.3413G>C n.6280+13487G>C c.6141G>C (p.Glu2047Asp) c.5631G>C (p.Glu1877Asp) c.4071G>C (p.Glu1357Asp) c.4062G>C (p.Glu1354Asp) n.6266+13487G>C | |
2 | g.15218935C>T | CA1535061 | NBAS | c.4256G>A c.4426+13487G>A c.781G>A c.2126G>A c.6270G>A (p.Glu2090=) c.512+13487G>A (n.512+13487G>A) c.3413G>A n.6280+13487G>A c.6141G>A (p.Glu2047=) c.5631G>A (p.Glu1877=) c.4071G>A (p.Glu1357=) c.4062G>A (p.Glu1354=) n.6266+13487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218936T>A | CA345885049 | NBAS | c.4255A>T c.4426+13486A>T c.780A>T c.2125A>T c.6269A>T (p.Glu2090Val) c.512+13486A>T (n.512+13486A>T) c.3412A>T n.6280+13486A>T c.6140A>T (p.Glu2047Val) c.5630A>T (p.Glu1877Val) c.4070A>T (p.Glu1357Val) c.4061A>T (p.Glu1354Val) n.6266+13486A>T | |
2 | g.15218936T>C | CA345885053 | NBAS | c.4255A>G c.4426+13486A>G c.780A>G c.2125A>G c.6269A>G (p.Glu2090Gly) c.512+13486A>G (n.512+13486A>G) c.3412A>G n.6280+13486A>G c.6140A>G (p.Glu2047Gly) c.5630A>G (p.Glu1877Gly) c.4070A>G (p.Glu1357Gly) c.4061A>G (p.Glu1354Gly) n.6266+13486A>G | |
2 | g.15218936T>G | CA345885052 | NBAS | c.4255A>C c.4426+13486A>C c.780A>C c.2125A>C c.6269A>C (p.Glu2090Ala) c.512+13486A>C (n.512+13486A>C) c.3412A>C n.6280+13486A>C c.6140A>C (p.Glu2047Ala) c.5630A>C (p.Glu1877Ala) c.4070A>C (p.Glu1357Ala) c.4061A>C (p.Glu1354Ala) n.6266+13486A>C | |
2 | g.15218937C>A | CA345885056 | NBAS | c.4254G>T c.4426+13485G>T c.779G>T c.2124G>T c.6268G>T (p.Glu2090Ter) c.512+13485G>T (n.512+13485G>T) c.3411G>T n.6280+13485G>T c.6139G>T (p.Glu2047Ter) c.5629G>T (p.Glu1877Ter) c.4069G>T (p.Glu1357Ter) c.4060G>T (p.Glu1354Ter) n.6266+13485G>T | |
2 | g.15218937C>G | CA345885058 | NBAS | c.4254G>C c.4426+13485G>C c.779G>C c.2124G>C c.6268G>C (p.Glu2090Gln) c.512+13485G>C (n.512+13485G>C) c.3411G>C n.6280+13485G>C c.6139G>C (p.Glu2047Gln) c.5629G>C (p.Glu1877Gln) c.4069G>C (p.Glu1357Gln) c.4060G>C (p.Glu1354Gln) n.6266+13485G>C | |
2 | g.15218937C>T | CA345885062 | NBAS | c.4254G>A c.4426+13485G>A c.779G>A c.2124G>A c.6268G>A (p.Glu2090Lys) c.512+13485G>A (n.512+13485G>A) c.3411G>A n.6280+13485G>A c.6139G>A (p.Glu2047Lys) c.5629G>A (p.Glu1877Lys) c.4069G>A (p.Glu1357Lys) c.4060G>A (p.Glu1354Lys) n.6266+13485G>A | |
2 | g.15218938C>A | CA424866995 | NBAS | c.4253G>T c.4426+13484G>T c.778G>T c.2123G>T c.6267G>T (p.Leu2089=) c.512+13484G>T (n.512+13484G>T) c.3410G>T n.6280+13484G>T c.6138G>T (p.Leu2046=) c.5628G>T (p.Leu1876=) c.4068G>T (p.Leu1356=) c.4059G>T (p.Leu1353=) n.6266+13484G>T | gnomAD v4 |
2 | g.15218938C>G | CA424866994 | NBAS | c.4253G>C c.4426+13484G>C c.778G>C c.2123G>C c.6267G>C (p.Leu2089=) c.512+13484G>C (n.512+13484G>C) c.3410G>C n.6280+13484G>C c.6138G>C (p.Leu2046=) c.5628G>C (p.Leu1876=) c.4068G>C (p.Leu1356=) c.4059G>C (p.Leu1353=) n.6266+13484G>C | |
2 | g.15218938C>T | CA424866993 | NBAS | c.4253G>A c.4426+13484G>A c.778G>A c.2123G>A c.6267G>A (p.Leu2089=) c.512+13484G>A (n.512+13484G>A) c.3410G>A n.6280+13484G>A c.6138G>A (p.Leu2046=) c.5628G>A (p.Leu1876=) c.4068G>A (p.Leu1356=) c.4059G>A (p.Leu1353=) n.6266+13484G>A | |
2 | g.15218939A>C | CA345885064 | NBAS | c.4252T>G c.4426+13483T>G c.777T>G c.2122T>G c.6266T>G (p.Leu2089Arg) c.512+13483T>G (n.512+13483T>G) c.3409T>G n.6280+13483T>G c.6137T>G (p.Leu2046Arg) c.5627T>G (p.Leu1876Arg) c.4067T>G (p.Leu1356Arg) c.4058T>G (p.Leu1353Arg) n.6266+13483T>G | |
2 | g.15218939A>G | CA345885065 | NBAS | c.4252T>C c.4426+13483T>C c.777T>C c.2122T>C c.6266T>C (p.Leu2089Pro) c.512+13483T>C (n.512+13483T>C) c.3409T>C n.6280+13483T>C c.6137T>C (p.Leu2046Pro) c.5627T>C (p.Leu1876Pro) c.4067T>C (p.Leu1356Pro) c.4058T>C (p.Leu1353Pro) n.6266+13483T>C | |
2 | g.15218939A>T | CA345885066 | NBAS | c.4252T>A c.4426+13483T>A c.777T>A c.2122T>A c.6266T>A (p.Leu2089Gln) c.512+13483T>A (n.512+13483T>A) c.3409T>A n.6280+13483T>A c.6137T>A (p.Leu2046Gln) c.5627T>A (p.Leu1876Gln) c.4067T>A (p.Leu1356Gln) c.4058T>A (p.Leu1353Gln) n.6266+13483T>A | |
2 | g.15218940G>A | CA1535062 | NBAS | c.4251C>T c.4426+13482C>T c.776C>T c.2121C>T c.6265C>T (p.Leu2089=) c.512+13482C>T (n.512+13482C>T) c.3408C>T n.6280+13482C>T c.6136C>T (p.Leu2046=) c.5626C>T (p.Leu1876=) c.4066C>T (p.Leu1356=) c.4057C>T (p.Leu1353=) n.6266+13482C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218940G>C | CA345885068 | NBAS | c.4251C>G c.4426+13482C>G c.776C>G c.2121C>G c.6265C>G (p.Leu2089Val) c.512+13482C>G (n.512+13482C>G) c.3408C>G n.6280+13482C>G c.6136C>G (p.Leu2046Val) c.5626C>G (p.Leu1876Val) c.4066C>G (p.Leu1356Val) c.4057C>G (p.Leu1353Val) n.6266+13482C>G | |
2 | g.15218940G= | CA2490796260 | NBAS | c.4251C= c.4426+13482C= c.776C= c.2121C= c.6265C= (p.Leu2089=) c.512+13482C= (n.512+13482C=) c.3408C= n.6280+13482C= c.6136C= (p.Leu2046=) c.5626C= (p.Leu1876=) c.4066C= (p.Leu1356=) c.4057C= (p.Leu1353=) n.6266+13482C= | |
2 | g.15218940G>T | CA345885072 | NBAS | c.4251C>A c.4426+13482C>A c.776C>A c.2121C>A c.6265C>A (p.Leu2089Met) c.512+13482C>A (n.512+13482C>A) c.3408C>A n.6280+13482C>A c.6136C>A (p.Leu2046Met) c.5626C>A (p.Leu1876Met) c.4066C>A (p.Leu1356Met) c.4057C>A (p.Leu1353Met) n.6266+13482C>A | |
2 | g.15218941C>A | CA424866996 | NBAS | c.4250G>T c.4426+13481G>T c.775G>T c.2120G>T c.6264G>T (p.Leu2088=) c.512+13481G>T (n.512+13481G>T) c.3407G>T n.6280+13481G>T c.6135G>T (p.Leu2045=) c.5625G>T (p.Leu1875=) c.4065G>T (p.Leu1355=) c.4056G>T (p.Leu1352=) n.6266+13481G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218941C= | CA2490796261 | NBAS | c.4250G= c.4426+13481G= c.775G= c.2120G= c.6264G= (p.Leu2088=) c.512+13481G= (n.512+13481G=) c.3407G= n.6280+13481G= c.6135G= (p.Leu2045=) c.5625G= (p.Leu1875=) c.4065G= (p.Leu1355=) c.4056G= (p.Leu1352=) n.6266+13481G= | |
2 | g.15218941C>G | CA424866997 | NBAS | c.4250G>C c.4426+13481G>C c.775G>C c.2120G>C c.6264G>C (p.Leu2088=) c.512+13481G>C (n.512+13481G>C) c.3407G>C n.6280+13481G>C c.6135G>C (p.Leu2045=) c.5625G>C (p.Leu1875=) c.4065G>C (p.Leu1355=) c.4056G>C (p.Leu1352=) n.6266+13481G>C | |
2 | g.15218941C>T | CA424866998 | NBAS | c.4250G>A c.4426+13481G>A c.775G>A c.2120G>A c.6264G>A (p.Leu2088=) c.512+13481G>A (n.512+13481G>A) c.3407G>A n.6280+13481G>A c.6135G>A (p.Leu2045=) c.5625G>A (p.Leu1875=) c.4065G>A (p.Leu1355=) c.4056G>A (p.Leu1352=) n.6266+13481G>A |