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.102504188_102504194delinsCACCGCG | CA1932719193 | SUFU | c.36_42delinsCACCGCG (p.Pro12=) c.8+1202_8+1208delinsCACCGCG (n.8+1202_8+1208delinsCACCGCG) | |
10 | g.102504189_102504195del | CA2574656443 | SUFU | c.37_43del (p.Thr13ProfsTer?) c.8+1203_8+1209del (n.8+1203_8+1209del) | |
10 | g.102504189del | CA595216481 | SUFU | c.37del (p.Thr13ProfsTer?) c.8+1203del (n.8+1203del) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.102504189A= | CA1932719206 | SUFU | c.37A= (p.Thr13=) c.8+1203A= (n.8+1203A=) | |
10 | g.102504189A>C | CA377886198 | SUFU | c.37A>C (p.Thr13Pro) c.8+1203A>C (n.8+1203A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.102504189A>G | CA377886200 | SUFU | c.37A>G (p.Thr13Ala) c.8+1203A>G (n.8+1203A>G) | ClinVar |
10 | g.102504189A>T | CA377886204 | SUFU | c.37A>T (p.Thr13Ser) c.8+1203A>T (n.8+1203A>T) | ClinVar |
10 | g.102504189_102504194del | CA471304796 | SUFU | c.37_42del (p.Thr13_Ala14del) c.8+1203_8+1208del (n.8+1203_8+1208del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.102504190C>A | CA377886208 | SUFU | c.38C>A (p.Thr13Asn) c.8+1204C>A (n.8+1204C>A) | dbSNP |
10 | g.102504190C= | CA1932719216 | SUFU | c.38C= (p.Thr13=) c.8+1204C= (n.8+1204C=) | |
10 | g.102504190C>G | CA5667580 | SUFU | c.38C>G (p.Thr13Ser) c.8+1204C>G (n.8+1204C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.102504190C>T | CA5667581 | SUFU | c.38C>T (p.Thr13Ile) c.8+1204C>T (n.8+1204C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.102504191C>A | CA471304797 | SUFU | c.39C>A (p.Thr13=) c.8+1205C>A (n.8+1205C>A) | gnomAD v4 |
10 | g.102504191C= | CA1932719224 | SUFU | c.39C= (p.Thr13=) c.8+1205C= (n.8+1205C=) | |
10 | g.102504191C>G | CA471304798 | SUFU | c.39C>G (p.Thr13=) c.8+1205C>G (n.8+1205C>G) | dbSNP |
10 | g.102504191C>T | CA471304799 | SUFU | c.39C>T (p.Thr13=) c.8+1205C>T (n.8+1205C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.102504191_102504194delinsCGCG | CA1932719226 | SUFU | c.39_42delinsCGCG (p.Thr13=) c.8+1205_8+1208delinsCGCG (n.8+1205_8+1208delinsCGCG) | |
10 | g.102504191_102504215delinsCGCGCCCCCGGCCCCTGGCCCGACT | CA1932719223 | SUFU | c.39_63delinsCGCGCCCCCGGCCCCTGGCCCGACT (p.Thr13=) c.8+1205_8+1229delinsCGCGCCCCCGGCCCCTGGCCCGACT (n.8+1205_8+1229delinsCGCGCCCCCGGCCCCTGGCCCGACT) | |
10 | g.102504192del | CA2610694420 | SUFU | c.40del (p.Ala14ArgfsTer?) c.8+1206del (n.8+1206del) | gnomAD v4 |
10 | g.102504192G>A | CA377886217 | SUFU | c.40G>A (p.Ala14Thr) c.8+1206G>A (n.8+1206G>A) | ClinVar |
10 | g.102504192G>C | CA377886219 | SUFU | c.40G>C (p.Ala14Pro) c.8+1206G>C (n.8+1206G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.102504192G= | CA1932719234 | SUFU | c.40G= (p.Ala14=) c.8+1206G= (n.8+1206G=) | |
10 | g.102504192G>T | CA377886214 | SUFU | c.40G>T (p.Ala14Ser) c.8+1206G>T (n.8+1206G>T) | |
10 | g.102504192_102504194del | CA595216485 | SUFU | c.40_42del (p.Ala14del) c.8+1206_8+1208del (n.8+1206_8+1208del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.102504193C>A | CA377886222 | SUFU | c.41C>A (p.Ala14Glu) c.8+1207C>A (n.8+1207C>A) | gnomAD v4 |
10 | g.102504193C>G | CA377886227 | SUFU | c.41C>G (p.Ala14Gly) c.8+1207C>G (n.8+1207C>G) | |
10 | g.102504193C>T | CA377886226 | SUFU | c.41C>T (p.Ala14Val) c.8+1207C>T (n.8+1207C>T) | |
10 | g.102504193_102504194insCCCCC | CA2610694421 | SUFU | c.41_42insCCCCC (p.Pro16ArgfsTer?) c.8+1207_8+1208insCCCCC (n.8+1207_8+1208insCCCCC) | gnomAD v4 |
10 | g.102504194G>A | CA471304800 | SUFU | c.42G>A (p.Ala14=) c.8+1208G>A (n.8+1208G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.102504194G>C | CA471304801 | SUFU | c.42G>C (p.Ala14=) c.8+1208G>C (n.8+1208G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.102504194G= | CA1932719239 | SUFU | c.42G= (p.Ala14=) c.8+1208G= (n.8+1208G=) | |
10 | g.102504194G>T | CA471304802 | SUFU | c.42G>T (p.Ala14=) c.8+1208G>T (n.8+1208G>T) | |
10 | g.102504194_102504218delinsGCCCCCGGCCCCTGGCCCGACTGCC | CA1932719241 | SUFU | c.42_66delinsGCCCCCGGCCCCTGGCCCGACTGCC (p.Ala14=) c.8+1208_8+1232delinsGCCCCCGGCCCCTGGCCCGACTGCC (n.8+1208_8+1232delinsGCCCCCGGCCCCTGGCCCGACTGCC) | |
10 | g.102504195C>A | CA5667582 | SUFU | c.43C>A (p.Pro15Thr) c.8+1209C>A (n.8+1209C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.102504195C= | CA1932719250 | SUFU | c.43C= (p.Pro15=) c.8+1209C= (n.8+1209C=) | |
10 | g.102504195C>G | CA377886232 | SUFU | c.43C>G (p.Pro15Ala) c.8+1209C>G (n.8+1209C>G) | ClinVar dbSNP |
10 | g.102504195C>T | CA377886234 | SUFU | c.43C>T (p.Pro15Ser) c.8+1209C>T (n.8+1209C>T) | ClinVar dbSNP gnomAD v4 |
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=) |