| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.102504153_102509303del | CA1139532141 | SUFU | c.1_317del c.8+1167_143del | |
| 10 | g.102504189_102504205dup | CA913187385 | SUFU | c.37_53dup (p.Gly19ProfsTer?) c.8+1203_8+1219dup (n.8+1203_8+1219dup) | ClinVar dbSNP |
| 10 | g.102504189_102504205del | CA923726182 | SUFU | c.37_53del (p.Thr13TrpfsTer29) c.8+1203_8+1219del (n.8+1203_8+1219del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102504191_102504215delinsCGCGCCCCCGGCCCCTGGCCCGACT | CA1932719223 | SUFU | c.39_63delinsCGCGCCCCCGGCCCCTGGCCCGACT (p.Thr13=) c.8+1205_8+1229delinsCGCGCCCCCGGCCCCTGGCCCGACT (n.8+1205_8+1229delinsCGCGCCCCCGGCCCCTGGCCCGACT) | |
| 10 | g.102504194_102504217del | CA1932719233 | SUFU | c.42_65del (p.Pro15_Ala22del) c.8+1208_8+1231del (n.8+1208_8+1231del) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102504194_102504218delinsGCCCCCGGCCCCTGGCCCGACTGCC | CA1932719241 | SUFU | c.42_66delinsGCCCCCGGCCCCTGGCCCGACTGCC (p.Ala14=) c.8+1208_8+1232delinsGCCCCCGGCCCCTGGCCCGACTGCC (n.8+1208_8+1232delinsGCCCCCGGCCCCTGGCCCGACTGCC) | |
| 10 | g.102504199dup | CA2610694422 | SUFU | c.47dup (p.Ala17GlyfsTer?) c.8+1213dup (n.8+1213dup) | gnomAD v4 |
| 10 | g.102504199del | CA2574656482 | SUFU | c.47del (p.Pro16ArgfsTer?) c.8+1213del (n.8+1213del) | dbSNP gnomAD v4 |
| 10 | g.102504204_102504227del | CA659052198 | SUFU | c.52_75del (p.Pro18_Ala25del) c.8+1218_8+1241del (n.8+1218_8+1241del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102504196C>A | CA377886238 | SUFU | c.44C>A (p.Pro15His) c.8+1210C>A (n.8+1210C>A) | gnomAD v4 |
| 10 | g.102504196C= | CA1932719258 | SUFU | c.44C= (p.Pro15=) c.8+1210C= (n.8+1210C=) | |
| 10 | g.102504196C>G | CA377886241 | SUFU | c.44C>G (p.Pro15Arg) c.8+1210C>G (n.8+1210C>G) | |
| 10 | g.102504196C>T | CA116361 | SUFU | c.44C>T (p.Pro15Leu) c.8+1210C>T (n.8+1210C>T) | ClinVar dbSNP |
| 10 | g.102504197C>A | CA471304804 | SUFU | c.45C>A (p.Pro15=) c.8+1211C>A (n.8+1211C>A) | ClinVar gnomAD v4 |
| 10 | g.102504197C= | CA1932719262 | SUFU | c.45C= (p.Pro15=) c.8+1211C= (n.8+1211C=) | |
| 10 | g.102504197C>G | CA471304803 | SUFU | c.45C>G (p.Pro15=) c.8+1211C>G (n.8+1211C>G) | |
| 10 | g.102504197C>T | CA5667583 | SUFU | c.45C>T (p.Pro15=) c.8+1211C>T (n.8+1211C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102504198C>A | CA212238099 | SUFU | c.46C>A (p.Pro16Thr) c.8+1212C>A (n.8+1212C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102504198C= | CA1932719268 | SUFU | c.46C= (p.Pro16=) c.8+1212C= (n.8+1212C=) | |
| 10 | g.102504198C>G | CA377886246 | SUFU | c.46C>G (p.Pro16Ala) c.8+1212C>G (n.8+1212C>G) | ClinVar |
| 10 | g.102504198C>T | CA377886248 | SUFU | c.46C>T (p.Pro16Ser) c.8+1212C>T (n.8+1212C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102504199C>A | CA377886251 | SUFU | c.47C>A (p.Pro16Gln) c.8+1213C>A (n.8+1213C>A) | gnomAD v4 |
| 10 | g.102504199C= | CA1932719276 | SUFU | c.47C= (p.Pro16=) c.8+1213C= (n.8+1213C=) | |
| 10 | g.102504199C>G | CA377886250 | SUFU | c.47C>G (p.Pro16Arg) c.8+1213C>G (n.8+1213C>G) | |
| 10 | g.102504199C>T | CA377886249 | SUFU | c.47C>T (p.Pro16Leu) c.8+1213C>T (n.8+1213C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102504199_102504201delinsCGG | CA1932719274 | SUFU | c.47_49delinsCGG (p.Pro16=) c.8+1213_8+1215delinsCGG (n.8+1213_8+1215delinsCGG) | |
| 10 | g.102504199_102504200insCCCCCCCG | CA2610694423 | SUFU | c.47_48insCCCCCCCG (p.Ala17ProfsTer?) c.8+1213_8+1214insCCCCCCCG (n.8+1213_8+1214insCCCCCCCG) | gnomAD v4 |
| 10 | g.102504200G>A | CA471304805 | SUFU | c.48G>A (p.Pro16=) c.8+1214G>A (n.8+1214G>A) | dbSNP gnomAD v4 |
| 10 | g.102504200G>C | CA471304806 | SUFU | c.48G>C (p.Pro16=) c.8+1214G>C (n.8+1214G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102504200G= | CA1932719281 | SUFU | c.48G= (p.Pro16=) c.8+1214G= (n.8+1214G=) | |
| 10 | g.102504200G>T | CA471304807 | SUFU | c.48G>T (p.Pro16=) c.8+1214G>T (n.8+1214G>T) | ClinVar dbSNP |
| 10 | g.102504200_102504201del | CA595216486 | SUFU | c.48_49del (p.Ala17ProfsTer?) c.8+1214_8+1215del (n.8+1214_8+1215del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102504201del | CA2610694424 | SUFU | c.49del (p.Ala17ProfsTer?) c.8+1215del (n.8+1215del) | gnomAD v4 |
| 10 | g.102504205_102504211del | CA2573145476 | SUFU | c.53_59del (p.Pro18ArgfsTer?) c.8+1219_8+1225del (n.8+1219_8+1225del) | ClinVar dbSNP |
| 10 | g.102504201G>A | CA377886252 | SUFU | c.49G>A (p.Ala17Thr) c.8+1215G>A (n.8+1215G>A) | gnomAD v4 |
| 10 | g.102504201G>C | CA377886254 | SUFU | c.49G>C (p.Ala17Pro) c.8+1215G>C (n.8+1215G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102504201G= | CA1932719285 | SUFU | c.49G= (p.Ala17=) c.8+1215G= (n.8+1215G=) | |
| 10 | g.102504201G>T | CA377886256 | SUFU | c.49G>T (p.Ala17Ser) c.8+1215G>T (n.8+1215G>T) | gnomAD v4 |
| 10 | g.102504202C>A | CA377886259 | SUFU | c.50C>A (p.Ala17Asp) c.8+1216C>A (n.8+1216C>A) | dbSNP |
| 10 | g.102504202C= | CA1932719295 | SUFU | c.50C= (p.Ala17=) c.8+1216C= (n.8+1216C=) | |
| 10 | g.102504202C>G | CA377886260 | SUFU | c.50C>G (p.Ala17Gly) c.8+1216C>G (n.8+1216C>G) | gnomAD v4 |
| 10 | g.102504202C>T | CA5667584 | SUFU | c.50C>T (p.Ala17Val) c.8+1216C>T (n.8+1216C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.102504205del | CA2573145477 | SUFU | c.53del (p.Pro18LeufsTer?) c.8+1219del (n.8+1219del) | ClinVar dbSNP |
| 10 | g.102504203C>A | CA471304808 | SUFU | c.51C>A (p.Ala17=) c.8+1217C>A (n.8+1217C>A) | dbSNP |
| 10 | g.102504203C= | CA1932719298 | SUFU | c.51C= (p.Ala17=) c.8+1217C= (n.8+1217C=) | |
| 10 | g.102504203C>G | CA471304809 | SUFU | c.51C>G (p.Ala17=) c.8+1217C>G (n.8+1217C>G) | |
| 10 | g.102504203C>T | CA471304810 | SUFU | c.51C>T (p.Ala17=) c.8+1217C>T (n.8+1217C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102504204C>A | CA377886265 | SUFU | c.52C>A (p.Pro18Thr) c.8+1218C>A (n.8+1218C>A) | ClinVar gnomAD v4 |
| 10 | g.102504204C= | CA1932719301 | SUFU | c.52C= (p.Pro18=) c.8+1218C= (n.8+1218C=) | |
| 10 | g.102504204C>G | CA377886267 | SUFU | c.52C>G (p.Pro18Ala) c.8+1218C>G (n.8+1218C>G) | ClinVar |