| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149827_10149842del | CA2499216391 | VHL | c.*181_*196del (n.*181_*196del) c.640_655del (n.640_655del) c.615_630del (p.Ser205ArgfsTer29) c.504_519del (p.Ser168ArgfsTer29) c.381_396del (p.Ser127ArgfsTer29) n.640_655del c.*58_*73del (n.*58_*73del) | ClinVar dbSNP |
| 3 | g.10149830_10149839del | CA645525074 | VHL | c.*184_*193del (n.*184_*193del) c.643_652del (n.643_652del) c.618_627del (p.Val207ArgfsTer29) c.507_516del (p.Val170ArgfsTer29) c.384_393del (p.Val129ArgfsTer29) n.643_652del c.*61_*70del (n.*61_*70del) | COSMIC COSMIC |
| 3 | g.10149826_10149832del | CA645525075 | VHL | c.*180_*186del (n.*180_*186del) c.639_645del (n.639_645del) c.614_620del (p.Ser205ThrfsTer?) c.503_509del (p.Ser168ThrfsTer?) c.380_386del (p.Ser127ThrfsTer?) n.639_645del c.*57_*63del (n.*57_*63del) | COSMIC |
| 3 | g.10149826_10149836del | CA2573131812 | VHL | c.*180_*190del (n.*180_*190del) c.639_649del (n.639_649del) c.614_624del (p.Ser205ThrfsTer2) c.503_513del (p.Ser168ThrfsTer2) c.380_390del (p.Ser127ThrfsTer2) n.639_649del c.*57_*67del (n.*57_*67del) | |
| 3 | g.10149828_10149833del | CA645525078 | VHL | c.*182_*187del (n.*182_*187del) c.641_646del (n.641_646del) c.616_621del (p.Leu206_Val207del) c.505_510del (p.Leu169_Val170del) c.382_387del (p.Leu128_Val129del) n.641_646del c.*59_*64del (n.*59_*64del) | COSMIC |
| 3 | g.10149827_10149834del | CA645525077 | VHL | c.*181_*188del (n.*181_*188del) c.640_647del (n.640_647del) c.615_622del (p.Ser205ArgfsTer3) c.504_511del (p.Ser168ArgfsTer3) c.381_388del (p.Ser127ArgfsTer3) n.640_647del c.*58_*65del (n.*58_*65del) | COSMIC |
| 3 | g.10149829_10149833del | CA645525079 | VHL | c.*183_*187del (n.*183_*187del) c.642_646del (n.642_646del) c.617_621del (p.Leu206GlnfsTer3) c.506_510del (p.Leu169GlnfsTer3) c.383_387del (p.Leu128GlnfsTer3) n.642_646del c.*60_*64del (n.*60_*64del) | COSMIC |
| 3 | g.10149831_10149832delinsGT | CA1345062389 | VHL | c.*185_*186delinsGT (n.*185_*186delinsGT) c.644_645delinsGT (n.644_645delinsGT) c.619_620delinsGT (p.Val207=) c.508_509delinsGT (p.Val170=) c.385_386delinsGT (p.Val129=) n.644_645delinsGT c.*62_*63delinsGT (n.*62_*63delinsGT) | |
| 3 | g.10149832del | CA432423338 | VHL | c.*186del (n.*186del) c.645del (n.645del) c.620del (p.Val207AlafsTer?) c.509del (p.Val170AlafsTer?) c.386del (p.Val129AlafsTer?) n.645del c.*63del (n.*63del) | dbSNP gnomAD v2 COSMIC |
| 3 | g.10149832T>A | CA351756195 | VHL | c.*186T>A (n.*186T>A) c.645T>A (n.645T>A) c.620T>A (p.Val207Asp) c.509T>A (p.Val170Asp) c.386T>A (p.Val129Asp) n.645T>A c.*63T>A (n.*63T>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149832T>C | CA279950 | VHL | c.*186T>C (n.*186T>C) c.645T>C (n.645T>C) c.620T>C (p.Val207Ala) c.509T>C (p.Val170Ala) c.386T>C (p.Val129Ala) n.645T>C c.*63T>C (n.*63T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149832T>G | CA351756196 | VHL | c.*186T>G (n.*186T>G) c.645T>G (n.645T>G) c.620T>G (p.Val207Gly) c.509T>G (p.Val170Gly) c.386T>G (p.Val129Gly) n.645T>G c.*63T>G (n.*63T>G) | dbSNP |
| 3 | g.10149832T= | CA1345062399 | VHL | c.*186T= (n.*186T=) c.645T= (n.645T=) c.620T= (p.Val207=) c.509T= (p.Val170=) c.386T= (p.Val129=) n.645T= c.*63T= (n.*63T=) | |
| 3 | g.10149832_10149833dup | CA645525080 | VHL | c.*186_*187dup (n.*186_*187dup) c.645_646dup (n.645_646dup) c.620_621dup (p.Lys208SerfsTer?) c.509_510dup (p.Lys171SerfsTer?) c.386_387dup (p.Lys130SerfsTer?) n.645_646dup c.*63_*64dup (n.*63_*64dup) | COSMIC |
| 3 | g.10149832_10149833insA | CA645525081 | VHL | c.*186_*187insA (n.*186_*187insA) c.645_646insA (n.645_646insA) c.620_621insA (p.Lys208GlnfsTer3) c.509_510insA (p.Lys171GlnfsTer3) c.386_387insA (p.Lys130GlnfsTer3) n.645_646insA c.*63_*64insA (n.*63_*64insA) | COSMIC |
| 3 | g.10149833C>A | CA041357 | VHL | c.*187C>A (n.*187C>A) c.646C>A (n.646C>A) c.621C>A (p.Val207=) c.510C>A (p.Val170=) c.387C>A (p.Val129=) n.646C>A c.*64C>A (n.*64C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149833C= | CA1345062406 | VHL | c.*187C= (n.*187C=) c.646C= (n.646C=) c.621C= (p.Val207=) c.510C= (p.Val170=) c.387C= (p.Val129=) n.646C= c.*64C= (n.*64C=) | |
| 3 | g.10149833C>G | CA432423343 | VHL | c.*187C>G (n.*187C>G) c.646C>G (n.646C>G) c.621C>G (p.Val207=) c.510C>G (p.Val170=) c.387C>G (p.Val129=) n.646C>G c.*64C>G (n.*64C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149833C>T | CA041370 | VHL | c.*187C>T (n.*187C>T) c.646C>T (n.646C>T) c.621C>T (p.Val207=) c.510C>T (p.Val170=) c.387C>T (p.Val129=) n.646C>T c.*64C>T (n.*64C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149834A>C | CA351756197 | VHL | c.*188A>C (n.*188A>C) c.647A>C (n.647A>C) c.622A>C (p.Lys208Gln) c.511A>C (p.Lys171Gln) c.388A>C (p.Lys130Gln) n.647A>C c.*65A>C (n.*65A>C) | |
| 3 | g.10149834A>G | CA351756198 | VHL | c.*188A>G (n.*188A>G) c.647A>G (n.647A>G) c.622A>G (p.Lys208Glu) c.511A>G (p.Lys171Glu) c.388A>G (p.Lys130Glu) n.647A>G c.*65A>G (n.*65A>G) | ClinVar |
| 3 | g.10149834A>T | CA351756199 | VHL | c.*188A>T (n.*188A>T) c.647A>T (n.647A>T) c.622A>T (p.Lys208Ter) c.511A>T (p.Lys171Ter) c.388A>T (p.Lys130Ter) n.647A>T c.*65A>T (n.*65A>T) | dbSNP COSMIC |
| 3 | g.10149835dup | CA432423353 | VHL | c.*189dup (n.*189dup) c.648dup (n.648dup) c.623dup (p.Pro209AlafsTer2) c.512dup (p.Pro172AlafsTer2) c.389dup (p.Pro131AlafsTer2) n.648dup c.*66dup (n.*66dup) | |
| 3 | g.10149835del | CA432423346 | VHL | c.*189del (n.*189del) c.648del (n.648del) c.623del (p.Lys208SerfsTer?) c.512del (p.Lys171SerfsTer?) c.389del (p.Lys130SerfsTer?) n.648del c.*66del (n.*66del) | COSMIC |
| 3 | g.10149835A= | CA1345062409 | VHL | c.*189A= (n.*189A=) c.648A= (n.648A=) c.623A= (p.Lys208=) c.512A= (p.Lys171=) c.389A= (p.Lys130=) n.648A= c.*66A= (n.*66A=) | |
| 3 | g.10149835A>C | CA351756202 | VHL | c.*189A>C (n.*189A>C) c.648A>C (n.648A>C) c.623A>C (p.Lys208Thr) c.512A>C (p.Lys171Thr) c.389A>C (p.Lys130Thr) n.648A>C c.*66A>C (n.*66A>C) | dbSNP |
| 3 | g.10149835A>G | CA351756201 | VHL | c.*189A>G (n.*189A>G) c.648A>G (n.648A>G) c.623A>G (p.Lys208Arg) c.512A>G (p.Lys171Arg) c.389A>G (p.Lys130Arg) n.648A>G c.*66A>G (n.*66A>G) | ClinVar dbSNP |
| 3 | g.10149835A>T | CA351756200 | VHL | c.*189A>T (n.*189A>T) c.648A>T (n.648A>T) c.623A>T (p.Lys208Met) c.512A>T (p.Lys171Met) c.389A>T (p.Lys130Met) n.648A>T c.*66A>T (n.*66A>T) | dbSNP |
| 3 | g.10149835_10149839del | CA645525083 | VHL | c.*189_*193del (n.*189_*193del) c.648_652del (n.648_652del) c.623_627del (p.Lys208ArgfsTer?) c.512_516del (p.Lys171ArgfsTer?) c.389_393del (p.Lys130ArgfsTer?) n.648_652del c.*66_*70del (n.*66_*70del) | COSMIC |
| 3 | g.10149837_10149842del | CA645525082 | VHL | c.*191_*196del (n.*191_*196del) c.650_655del (n.650_655del) c.625_630del (p.Pro209_Glu210del) c.514_519del (p.Pro172_Glu173del) c.391_396del (p.Pro131_Glu132del) n.650_655del c.*68_*73del (n.*68_*73del) | COSMIC |
| 3 | g.10149837_10149850del | CA645525084 | VHL | c.*191_*204del (n.*191_*204del) c.650_663del (n.650_663del) c.625_638del (p.Pro209GlufsTer?) c.514_527del (p.Pro172GlufsTer?) c.391_404del (p.Pro131GlufsTer?) n.650_663del c.*68_*81del (n.*68_*81del) | COSMIC |
| 3 | g.10149836del | CA645525085 | VHL | c.*190del (n.*190del) c.649del (n.649del) c.624del (p.Lys208AsnfsTer?) c.513del (p.Lys171AsnfsTer?) c.390del (p.Lys130AsnfsTer?) n.649del c.*67del (n.*67del) | COSMIC |
| 3 | g.10149836G>A | CA432423359 | VHL | c.*190G>A (n.*190G>A) c.649G>A (n.649G>A) c.624G>A (p.Lys208=) c.513G>A (p.Lys171=) c.390G>A (p.Lys130=) n.649G>A c.*67G>A (n.*67G>A) | dbSNP |
| 3 | g.10149836G>C | CA351756203 | VHL | c.*190G>C (n.*190G>C) c.649G>C (n.649G>C) c.624G>C (p.Lys208Asn) c.513G>C (p.Lys171Asn) c.390G>C (p.Lys130Asn) n.649G>C c.*67G>C (n.*67G>C) | ClinVar dbSNP gnomAD v4 COSMIC |