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.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.102504205_102504211del | CA2573145476 | SUFU | c.53_59del (p.Pro18ArgfsTer?) c.8+1219_8+1225del (n.8+1219_8+1225del) | ClinVar dbSNP |
10 | g.102504205del | CA2573145477 | SUFU | c.53del (p.Pro18LeufsTer?) c.8+1219del (n.8+1219del) | ClinVar dbSNP |
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 |
10 | g.102504204C>T | CA377886268 | SUFU | c.52C>T (p.Pro18Ser) c.8+1218C>T (n.8+1218C>T) | dbSNP gnomAD v4 |
10 | g.102504206_102504210del | CA2610694425 | SUFU | c.54_58del (p.Gly19AspfsTer27) c.8+1220_8+1224del (n.8+1220_8+1224del) | gnomAD v4 |
10 | g.102504205C>A | CA377886270 | SUFU | c.53C>A (p.Pro18His) c.8+1219C>A (n.8+1219C>A) | |
10 | g.102504205C= | CA1932719307 | SUFU | c.53C= (p.Pro18=) c.8+1219C= (n.8+1219C=) | |
10 | g.102504205C>G | CA377886271 | SUFU | c.53C>G (p.Pro18Arg) c.8+1219C>G (n.8+1219C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.102504205C>T | CA377886273 | SUFU | c.53C>T (p.Pro18Leu) c.8+1219C>T (n.8+1219C>T) | ClinVar |
10 | g.102504206_102504209del | CA2610694426 | SUFU | c.54_57del (p.Gly19ArgfsTer?) c.8+1220_8+1223del (n.8+1220_8+1223del) | gnomAD v4 |
10 | g.102504206T>A | CA471304811 | SUFU | c.54T>A (p.Pro18=) c.8+1220T>A (n.8+1220T>A) | ClinVar gnomAD v4 |
10 | g.102504206T>C | CA471304812 | SUFU | c.54T>C (p.Pro18=) c.8+1220T>C (n.8+1220T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.102504206T>G | CA471304813 | SUFU | c.54T>G (p.Pro18=) c.8+1220T>G (n.8+1220T>G) | gnomAD v4 |
10 | g.102504206T= | CA1932719312 | SUFU | c.54T= (p.Pro18=) c.8+1220T= (n.8+1220T=) | |
10 | g.102504206_102504208del | CA2610694427 | SUFU | c.54_56del (p.Gly19del) c.8+1220_8+1222del (n.8+1220_8+1222del) | dbSNP gnomAD v4 |
10 | g.102504206_102504213del | CA2610694428 | SUFU | c.54_61del (p.Gly19CysfsTer26) c.8+1220_8+1227del (n.8+1220_8+1227del) | gnomAD v4 |
10 | g.102504206_102504216del | CA2610694429 | SUFU | c.54_64del (p.Gly19ProfsTer25) c.8+1220_8+1230del (n.8+1220_8+1230del) | dbSNP gnomAD v4 |
10 | g.102504207G>A | CA377886277 | SUFU | c.55G>A (p.Gly19Ser) c.8+1221G>A (n.8+1221G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.102504207G>C | CA377886279 | SUFU | c.55G>C (p.Gly19Arg) c.8+1221G>C (n.8+1221G>C) | dbSNP gnomAD v4 |
10 | g.102504207G= | CA1932719319 | SUFU | c.55G= (p.Gly19=) c.8+1221G= (n.8+1221G=) | |
10 | g.102504207G>T | CA377886275 | SUFU | c.55G>T (p.Gly19Cys) c.8+1221G>T (n.8+1221G>T) | gnomAD v4 |
10 | g.102504207_102504221dup | CA2740093513 | SUFU | c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro) c.8+1221_8+1235dup (n.8+1221_8+1235dup) | ClinVar |
10 | g.102504208G>A | CA377886281 | SUFU | c.56G>A (p.Gly19Asp) c.8+1222G>A (n.8+1222G>A) | ClinVar dbSNP |
10 | g.102504208G>C | CA377886284 | SUFU | c.56G>C (p.Gly19Ala) c.8+1222G>C (n.8+1222G>C) | dbSNP |
10 | g.102504208G= | CA1932719325 | SUFU | c.56G= (p.Gly19=) c.8+1222G= (n.8+1222G=) | |
10 | g.102504208G>T | CA377886286 | SUFU | c.56G>T (p.Gly19Val) c.8+1222G>T (n.8+1222G>T) | ClinVar |
10 | g.102504209C>A | CA471304814 | SUFU | c.57C>A (p.Gly19=) c.8+1223C>A (n.8+1223C>A) | ClinVar |
10 | g.102504209C>G | CA471304815 | SUFU | c.57C>G (p.Gly19=) c.8+1223C>G (n.8+1223C>G) | |
10 | g.102504209C>T | CA471304816 | SUFU | c.57C>T (p.Gly19=) c.8+1223C>T (n.8+1223C>T) | dbSNP |
10 | g.102504209_102504215del | CA2610694430 | SUFU | c.57_63del (p.Thr21ProfsTer?) c.8+1223_8+1229del (n.8+1223_8+1229del) | gnomAD v4 |
10 | g.102504212_102504220del | CA2610694431 | SUFU | c.60_68del (p.Thr21_Pro23del) c.8+1226_8+1234del (n.8+1226_8+1234del) | gnomAD v4 |
10 | g.102504210C>A | CA377886287 | SUFU | c.58C>A (p.Pro20Thr) c.8+1224C>A (n.8+1224C>A) | |
10 | g.102504210C= | CA1932719330 | SUFU | c.58C= (p.Pro20=) c.8+1224C= (n.8+1224C=) | |
10 | g.102504210C>G | CA212238100 | SUFU | c.58C>G (p.Pro20Ala) c.8+1224C>G (n.8+1224C>G) | ClinVar dbSNP |
10 | g.102504210C>T | CA377886290 | SUFU | c.58C>T (p.Pro20Ser) c.8+1224C>T (n.8+1224C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.102504211C>A | CA377886291 | SUFU | c.59C>A (p.Pro20Gln) c.8+1225C>A (n.8+1225C>A) | |
10 | g.102504211C>G | CA377886294 | SUFU | c.59C>G (p.Pro20Arg) c.8+1225C>G (n.8+1225C>G) | ClinVar gnomAD v4 |
10 | g.102504211C>T | CA377886296 | SUFU | c.59C>T (p.Pro20Leu) c.8+1225C>T (n.8+1225C>T) | ClinVar |
10 | g.102504211_102504215del | CA2610694432 | SUFU | c.59_63del (p.Pro20ArgfsTer26) c.8+1225_8+1229del (n.8+1225_8+1229del) | gnomAD v4 |
10 | g.102504212_102504217del | CA2722591405 | SUFU | c.60_65del (p.Thr21_Ala22del) c.8+1226_8+1231del (n.8+1226_8+1231del) | dbSNP |
10 | g.102504212G>A | CA471304817 | SUFU | c.60G>A (p.Pro20=) c.8+1226G>A (n.8+1226G>A) | ClinVar |