Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.149923632G>A | CA420670460 | SF3B4 | c.1185C>T (p.Gly395=) | |
1 | g.149923632G>C | CA420670462 | SF3B4 | c.1185C>G (p.Gly395=) | |
1 | g.149923632G>T | CA420670461 | SF3B4 | c.1185C>A (p.Gly395=) | |
1 | g.149923632_149923641delinsGCCATAGGGT | CA2478941145 | SF3B4 | c.1176_1185delinsACCCTATGGC (p.Pro392=) | |
1 | g.149923633C>A | CA342273398 | SF3B4 | c.1184G>T (p.Gly395Val) | |
1 | g.149923633C>G | CA342273400 | SF3B4 | c.1184G>C (p.Gly395Ala) | |
1 | g.149923633C>T | CA342273401 | SF3B4 | c.1184G>A (p.Gly395Asp) | |
1 | g.149923633_149923634del | CA1007570366 | SF3B4 | c.1183_1184del (p.Gly395LeufsTer?) | gnomAD v3 gnomAD v4 |
1 | g.149923633_149923641del | CA2478941146 | SF3B4 | c.1176_1184del (p.Pro393_Gly395del) | dbSNP |
1 | g.149923634C>A | CA342273404 | SF3B4 | c.1183G>T (p.Gly395Cys) | |
1 | g.149923634C>G | CA342273411 | SF3B4 | c.1183G>C (p.Gly395Arg) | |
1 | g.149923634C>T | CA342273412 | SF3B4 | c.1183G>A (p.Gly395Ser) | |
1 | g.149923635A>C | CA342273416 | SF3B4 | c.1182T>G (p.Tyr394Ter) | |
1 | g.149923635A>G | CA420670465 | SF3B4 | c.1182T>C (p.Tyr394=) | |
1 | g.149923635A>T | CA342273414 | SF3B4 | c.1182T>A (p.Tyr394Ter) | |
1 | g.149923635_149923642delinsATAGGGTG | CA2478941147 | SF3B4 | c.1175_1182delinsCACCCTAT (p.Pro392=) | |
1 | g.149923636T>A | CA342273417 | SF3B4 | c.1181A>T (p.Tyr394Phe) | |
1 | g.149923636T>C | CA342273419 | SF3B4 | c.1181A>G (p.Tyr394Cys) | |
1 | g.149923636T>G | CA342273422 | SF3B4 | c.1181A>C (p.Tyr394Ser) | |
1 | g.149923636_149923642del | CA1007570387 | SF3B4 | c.1175_1181del (p.Pro392LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.149923637A>C | CA342273424 | SF3B4 | c.1180T>G (p.Tyr394Asp) | |
1 | g.149923637A>G | CA342273426 | SF3B4 | c.1180T>C (p.Tyr394His) | gnomAD v4 |
1 | g.149923637A>T | CA342273428 | SF3B4 | c.1180T>A (p.Tyr394Asn) | |
1 | g.149923638G>A | CA420670471 | SF3B4 | c.1179C>T (p.Pro393=) | |
1 | g.149923638G>C | CA420670472 | SF3B4 | c.1179C>G (p.Pro393=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.149923638G= | CA2478941148 | SF3B4 | c.1179C= (p.Pro393=) | |
1 | g.149923638G>T | CA420670474 | SF3B4 | c.1179C>A (p.Pro393=) | gnomAD v4 |
1 | g.149923639G>A | CA1071358 | SF3B4 | c.1178C>T (p.Pro393Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.149923639G>C | CA342273432 | SF3B4 | c.1178C>G (p.Pro393Arg) | |
1 | g.149923639G= | CA2478941149 | SF3B4 | c.1178C= (p.Pro393=) | |
1 | g.149923639G>T | CA342273434 | SF3B4 | c.1178C>A (p.Pro393His) | |
1 | g.149923640G>A | CA342273435 | SF3B4 | c.1177C>T (p.Pro393Ser) | |
1 | g.149923640G>C | CA342273436 | SF3B4 | c.1177C>G (p.Pro393Ala) | |
1 | g.149923640G= | CA2478941150 | SF3B4 | c.1177C= (p.Pro393=) | |
1 | g.149923640G>T | CA1071359 | SF3B4 | c.1177C>A (p.Pro393Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.149923641T>A | CA420670481 | SF3B4 | c.1176A>T (p.Pro392=) | |
1 | g.149923641T>C | CA420670480 | SF3B4 | c.1176A>G (p.Pro392=) | |
1 | g.149923641T>G | CA420670479 | SF3B4 | c.1176A>C (p.Pro392=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.149923641T= | CA2478941151 | SF3B4 | c.1176A= (p.Pro392=) | |
1 | g.149923642G>A | CA342273439 | SF3B4 | c.1175C>T (p.Pro392Leu) | dbSNP |
1 | g.149923642G>C | CA342273441 | SF3B4 | c.1175C>G (p.Pro392Arg) | |
1 | g.149923642G= | CA2478941152 | SF3B4 | c.1175C= (p.Pro392=) | |
1 | g.149923642G>T | CA342273443 | SF3B4 | c.1175C>A (p.Pro392Gln) | gnomAD v4 |
1 | g.149923646del | CA2647756186 | SF3B4 | c.1175del (p.Pro392HisfsTer?) | gnomAD v4 |
1 | g.149923643G>A | CA342273451 | SF3B4 | c.1174C>T (p.Pro392Ser) | |
1 | g.149923643G>C | CA342273453 | SF3B4 | c.1174C>G (p.Pro392Ala) | |
1 | g.149923643G>T | CA342273456 | SF3B4 | c.1174C>A (p.Pro392Thr) | |
1 | g.149923644G>A | CA1071360 | SF3B4 | c.1173C>T (p.Pro391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.149923644G>C | CA420670498 | SF3B4 | c.1173C>G (p.Pro391=) | |
1 | g.149923644G= | CA1148127215 | SF3B4 | c.1173C= (p.Pro391=) |