UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101421777del | CA2785321759 | ALDOB | c.*33del (n.*33del) c.*140del (n.*140del) | |
| 9 | g.101421777A= | CA1868275517 | ALDOB | c.*32T= (n.*32T=) c.*139T= (n.*139T=) | |
| 9 | g.101421777A>G | CA589815516 | ALDOB | c.*32T>C (n.*32T>C) c.*139T>C (n.*139T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421778G>A | CA1127395774 | ALDOB | c.*31C>T (n.*31C>T) c.*138C>T (n.*138C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421778G>C | CA589815517 | ALDOB | c.*31C>G (n.*31C>G) c.*138C>G (n.*138C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421778G= | CA1868275519 | ALDOB | c.*31C= (n.*31C=) c.*138C= (n.*138C=) | |
| 9 | g.101421778G>T | CA2579403594 | ALDOB | c.*31C>A (n.*31C>A) c.*138C>A (n.*138C>A) | gnomAD v4 |
| 9 | g.101421779_101421780delinsCA | CA1868275521 | ALDOB | c.*29_*30delinsTG (n.*29_*30delinsTG) c.*136_*137delinsTG (n.*136_*137delinsTG) | |
| 9 | g.101421780del | CA1868275523 | ALDOB | c.*29del (n.*29del) c.*136del (n.*136del) | dbSNP |
| 9 | g.101421780A= | CA1868275524 | ALDOB | c.*29T= (n.*29T=) c.*136T= (n.*136T=) | |
| 9 | g.101421780A>G | CA2691006401 | ALDOB | c.*29T>C (n.*29T>C) c.*136T>C (n.*136T>C) | gnomAD v4 |
| 9 | g.101421780A>T | CA589815518 | ALDOB | c.*29T>A (n.*29T>A) c.*136T>A (n.*136T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421783G>A | CA1139661092 | ALDOB | c.*26C>T (n.*26C>T) c.*133C>T (n.*133C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421783G= | CA1868275527 | ALDOB | c.*26C= (n.*26C=) c.*133C= (n.*133C=) | |
| 9 | g.101421784del | CA2579403595 | ALDOB | c.*26del (n.*26del) c.*133del (n.*133del) | |
| 9 | g.101421783_101421784insAGA | CA1868275531 | ALDOB | c.*25_*26insTCT (n.*25_*26insTCT) c.*132_*133insTCT (n.*132_*133insTCT) | dbSNP |
| 9 | g.101421784G>A | CA2691006403 | ALDOB | c.*25C>T (n.*25C>T) c.*132C>T (n.*132C>T) | gnomAD v4 |
| 9 | g.101421784G>C | CA5161375 | ALDOB | c.*25C>G (n.*25C>G) c.*132C>G (n.*132C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421784G= | CA1868275533 | ALDOB | c.*25C= (n.*25C=) c.*132C= (n.*132C=) | |
| 9 | g.101421786G>T | CA2691006404 | ALDOB | c.*23C>A (n.*23C>A) c.*130C>A (n.*130C>A) | gnomAD v4 |
| 9 | g.101421786_101421788delinsGCT | CA1868275534 | ALDOB | c.*21_*23delinsAGC (n.*21_*23delinsAGC) c.*128_*130delinsAGC (n.*128_*130delinsAGC) | |
| 9 | g.101421787C>T | CA2579403596 | ALDOB | c.*22G>A (n.*22G>A) c.*129G>A (n.*129G>A) | |
| 9 | g.101421787_101421788del | CA1868275535 | ALDOB | c.*21_*22del (n.*21_*22del) c.*128_*129del (n.*128_*129del) | dbSNP |
| 9 | g.101421788T>A | CA1868275538 | ALDOB | c.*21A>T (n.*21A>T) c.*128A>T (n.*128A>T) | dbSNP gnomAD v4 |
| 9 | g.101421788T>G | CA1868275539 | ALDOB | c.*21A>C (n.*21A>C) c.*128A>C (n.*128A>C) | dbSNP |
| 9 | g.101421788T= | CA1868275537 | ALDOB | c.*21A= (n.*21A=) c.*128A= (n.*128A=) | |
| 9 | g.101421789A>G | CA2785321761 | ALDOB | c.*20T>C (n.*20T>C) c.*127T>C (n.*127T>C) | |
| 9 | g.101421790G>A | CA5161376 | ALDOB | c.*19C>T (n.*19C>T) c.*126C>T (n.*126C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421790G>C | CA2691006405 | ALDOB | c.*19C>G (n.*19C>G) c.*126C>G (n.*126C>G) | gnomAD v4 |
| 9 | g.101421790G= | CA1868275541 | ALDOB | c.*19C= (n.*19C=) c.*126C= (n.*126C=) | |
| 9 | g.101421791G>A | CA2739994245 | ALDOB | c.*18C>T (n.*18C>T) c.*125C>T (n.*125C>T) | |
| 9 | g.101421791G>C | CA2739994246 | ALDOB | c.*18C>G (n.*18C>G) c.*125C>G (n.*125C>G) | |
| 9 | g.101421791G>T | CA2691006406 | ALDOB | c.*18C>A (n.*18C>A) c.*125C>A (n.*125C>A) | gnomAD v4 |
| 9 | g.101421792C>A | CA2739994247 | ALDOB | c.*17G>T (n.*17G>T) c.*124G>T (n.*124G>T) | |
| 9 | g.101421792C>G | CA2739994248 | ALDOB | c.*17G>C (n.*17G>C) c.*124G>C (n.*124G>C) | |
| 9 | g.101421792C>T | CA2739994249 | ALDOB | c.*17G>A (n.*17G>A) c.*124G>A (n.*124G>A) | |
| 9 | g.101421794G>A | CA589815519 | ALDOB | c.*15C>T (n.*15C>T) c.*122C>T (n.*122C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421794G>C | CA2739994250 | ALDOB | c.*15C>G (n.*15C>G) c.*122C>G (n.*122C>G) | |
| 9 | g.101421794G= | CA1868275544 | ALDOB | c.*15C= (n.*15C=) c.*122C= (n.*122C=) | |
| 9 | g.101421794G>T | CA2739994251 | ALDOB | c.*15C>A (n.*15C>A) c.*122C>A (n.*122C>A) | |
| 9 | g.101421795G>A | CA2739994252 | ALDOB | c.*14C>T (n.*14C>T) c.*121C>T (n.*121C>T) | |
| 9 | g.101421795G>C | CA2739994253 | ALDOB | c.*14C>G (n.*14C>G) c.*121C>G (n.*121C>G) | |
| 9 | g.101421795G>T | CA2579403597 | ALDOB | c.*14C>A (n.*14C>A) c.*121C>A (n.*121C>A) | gnomAD v4 |
| 9 | g.101421795_101421801delinsGCGGGCA | CA1868275546 | ALDOB | c.*8_*14delinsTGCCCGC (n.*8_*14delinsTGCCCGC) c.*115_*121delinsTGCCCGC (n.*115_*121delinsTGCCCGC) | |
| 9 | g.101421796C= | CA1868275548 | ALDOB | c.*13G= (n.*13G=) c.*120G= (n.*120G=) | |
| 9 | g.101421796C>G | CA2785321766 | ALDOB | c.*13G>C (n.*13G>C) c.*120G>C (n.*120G>C) | |
| 9 | g.101421796C>T | CA5161377 | ALDOB | c.*13G>A (n.*13G>A) c.*120G>A (n.*120G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421796_101421801del | CA1868275551 | ALDOB | c.*8_*13del (n.*8_*13del) c.*115_*120del (n.*115_*120del) | dbSNP |
| 9 | g.101421797G>A | CA5161378 | ALDOB | c.*12C>T (n.*12C>T) c.*119C>T (n.*119C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421797G>C | CA2691006407 | ALDOB | c.*12C>G (n.*12C>G) c.*119C>G (n.*119C>G) | gnomAD v4 |
| 9 | g.101421797G= | CA1868275553 | ALDOB | c.*12C= (n.*12C=) c.*119C= (n.*119C=) | |
| 9 | g.101421797G>T | CA2739994254 | ALDOB | c.*12C>A (n.*12C>A) c.*119C>A (n.*119C>A) | |
| 9 | g.101421798G>A | CA2739994256 | ALDOB | c.*11C>T (n.*11C>T) c.*118C>T (n.*118C>T) | |
| 9 | g.101421798G>C | CA2739994255 | ALDOB | c.*11C>G (n.*11C>G) c.*118C>G (n.*118C>G) | |
| 9 | g.101421798G>T | CA2579403598 | ALDOB | c.*11C>A (n.*11C>A) c.*118C>A (n.*118C>A) | |
| 9 | g.101421799G>A | CA5161379 | ALDOB | c.*10C>T (n.*10C>T) c.*117C>T (n.*117C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421799G>C | CA589815520 | ALDOB | c.*10C>G (n.*10C>G) c.*117C>G (n.*117C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421799G= | CA1868275556 | ALDOB | c.*10C= (n.*10C=) c.*117C= (n.*117C=) | |
| 9 | g.101421799G>T | CA2691006408 | ALDOB | c.*10C>A (n.*10C>A) c.*117C>A (n.*117C>A) | gnomAD v4 |
| 9 | g.101421800C>A | CA2739994257 | ALDOB | c.*9G>T (n.*9G>T) c.*116G>T (n.*116G>T) | |
| 9 | g.101421800C= | CA1868275560 | ALDOB | c.*9G= (n.*9G=) c.*116G= (n.*116G=) | |
| 9 | g.101421800C>G | CA857728642 | ALDOB | c.*9G>C (n.*9G>C) c.*116G>C (n.*116G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421800C>T | CA2691006409 | ALDOB | c.*9G>A (n.*9G>A) c.*116G>A (n.*116G>A) | gnomAD v4 |
| 9 | g.101421801A= | CA1868275563 | ALDOB | c.*8T= (n.*8T=) c.*115T= (n.*115T=) | |
| 9 | g.101421801A>C | CA1868275565 | ALDOB | c.*8T>G (n.*8T>G) c.*115T>G (n.*115T>G) | dbSNP gnomAD v4 |
| 9 | g.101421801A>G | CA1868275566 | ALDOB | c.*8T>C (n.*8T>C) c.*115T>C (n.*115T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421801A>T | CA2691006410 | ALDOB | c.*8T>A (n.*8T>A) c.*115T>A (n.*115T>A) | gnomAD v4 |
| 9 | g.101421802T>A | CA5161380 | ALDOB | c.*7A>T (n.*7A>T) c.*114A>T (n.*114A>T) | dbSNP ExAC gnomAD v2 |
| 9 | g.101421802T>C | CA589815521 | ALDOB | c.*7A>G (n.*7A>G) c.*114A>G (n.*114A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421802T>G | CA2739994258 | ALDOB | c.*7A>C (n.*7A>C) c.*114A>C (n.*114A>C) | |
| 9 | g.101421802T= | CA1868275568 | ALDOB | c.*7A= (n.*7A=) c.*114A= (n.*114A=) | |
| 9 | g.101421803T>A | CA2739994261 | ALDOB | c.*6A>T (n.*6A>T) c.*113A>T (n.*113A>T) | |
| 9 | g.101421803T>C | CA2739994260 | ALDOB | c.*6A>G (n.*6A>G) c.*113A>G (n.*113A>G) | |
| 9 | g.101421803T>G | CA2739994259 | ALDOB | c.*6A>C (n.*6A>C) c.*113A>C (n.*113A>C) | |
| 9 | g.101421804G>A | CA2691006411 | ALDOB | c.*5C>T (n.*5C>T) c.*112C>T (n.*112C>T) | gnomAD v4 |
| 9 | g.101421804G>C | CA2739994262 | ALDOB | c.*5C>G (n.*5C>G) c.*112C>G (n.*112C>G) | |
| 9 | g.101421804G>T | CA2739994263 | ALDOB | c.*5C>A (n.*5C>A) c.*112C>A (n.*112C>A) | |
| 9 | g.101421805_101421806delinsGA | CA1868275571 | ALDOB | c.*3_*4delinsTC (n.*3_*4delinsTC) c.*110_*111delinsTC (n.*110_*111delinsTC) | |
| 9 | g.101421806del | CA1868275572 | ALDOB | c.*3del (n.*3del) c.*110del (n.*110del) | dbSNP |
| 9 | g.101421806A>C | CA2739994264 | ALDOB | c.*3T>G (n.*3T>G) c.*110T>G (n.*110T>G) | |
| 9 | g.101421806A>G | CA2739994265 | ALDOB | c.*3T>C (n.*3T>C) c.*110T>C (n.*110T>C) | |
| 9 | g.101421806A>T | CA2739994266 | ALDOB | c.*3T>A (n.*3T>A) c.*110T>A (n.*110T>A) | |
| 9 | g.101421807C>A | CA2739994267 | ALDOB | c.*2G>T (n.*2G>T) c.*109G>T (n.*109G>T) | |
| 9 | g.101421807C>G | CA2739994268 | ALDOB | c.*2G>C (n.*2G>C) c.*109G>C (n.*109G>C) | |
| 9 | g.101421807C>T | CA2739994269 | ALDOB | c.*2G>A (n.*2G>A) c.*109G>A (n.*109G>A) | |
| 9 | g.101421809del | CA2691006412 | ALDOB | c.*2del (n.*2del) c.*109del (n.*109del) | gnomAD v4 |
| 9 | g.101421808C>A | CA2739994270 | ALDOB | c.*1G>T (n.*1G>T) c.*108G>T (n.*108G>T) | |
| 9 | g.101421808C= | CA1868275573 | ALDOB | c.*1G= (n.*1G=) c.*108G= (n.*108G=) | |
| 9 | g.101421808C>G | CA2739994271 | ALDOB | c.*1G>C (n.*1G>C) c.*108G>C (n.*108G>C) | |
| 9 | g.101421808_101421809insTCAGGTT | CA1868275577 | ALDOB | c.1095_*1insAACCTGA (n.1095_*1insAACCTGA) c.*107_*108insAACCTGA (n.*107_*108insAACCTGA) | dbSNP |
| 9 | g.101421809C>A | CA374263943 | ALDOB | c.1095G>T (p.Ter365Tyr) c.*107G>T (n.*107G>T) | |
| 9 | g.101421809C= | CA1868275579 | ALDOB | c.1095G= (p.Ter365=) c.*107G= (n.*107G=) | |
| 9 | g.101421809C>G | CA196955796 | ALDOB | c.1095G>C (p.Ter365Tyr) c.*107G>C (n.*107G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421809C>T | CA466461790 | ALDOB | c.1095G>A (p.Ter365=) c.*107G>A (n.*107G>A) | |
| 9 | g.101421810T>A | CA374263946 | ALDOB | c.1094A>T (p.Ter365Leu) c.*106A>T (n.*106A>T) | |
| 9 | g.101421810T>C | CA374263944 | ALDOB | c.1094A>G (p.Ter365Trp) c.*106A>G (n.*106A>G) | |
| 9 | g.101421810T>G | CA374263945 | ALDOB | c.1094A>C (p.Ter365Ser) c.*106A>C (n.*106A>C) | |
| 9 | g.101421811A>C | CA374263947 | ALDOB | c.1093T>G (p.Ter365Glu) c.*105T>G (n.*105T>G) | |
| 9 | g.101421811A>G | CA374263948 | ALDOB | c.1093T>C (p.Ter365Gln) c.*105T>C (n.*105T>C) | |
| 9 | g.101421811A>T | CA374263949 | ALDOB | c.1093T>A (p.Ter365Lys) c.*105T>A (n.*105T>A) | |
| 9 | g.101421813_101421833del | CA645547390 | ALDOB | c.1073_1093del (p.Phe358Ter) c.*85_*105del (n.*85_*105del) | COSMIC COSMIC |
| 9 | g.101421812G>A | CA466461791 | ALDOB | c.1092C>T (p.Tyr364=) c.*104C>T (n.*104C>T) | |
| 9 | g.101421812G>C | CA374263950 | ALDOB | c.1092C>G (p.Tyr364Ter) c.*104C>G (n.*104C>G) | |
| 9 | g.101421812G= | CA1868275584 | ALDOB | c.1092C= (p.Tyr364=) c.*104C= (n.*104C=) | |
| 9 | g.101421812G>T | CA374263951 | ALDOB | c.1092C>A (p.Tyr364Ter) c.*104C>A (n.*104C>A) | dbSNP |
| 9 | g.101421813T>A | CA374263952 | ALDOB | c.1091A>T (p.Tyr364Phe) c.*103A>T (n.*103A>T) | |
| 9 | g.101421813T>C | CA374263953 | ALDOB | c.1091A>G (p.Tyr364Cys) c.*103A>G (n.*103A>G) | gnomAD v4 COSMIC |
| 9 | g.101421813T>G | CA374263954 | ALDOB | c.1091A>C (p.Tyr364Ser) c.*103A>C (n.*103A>C) | |
| 9 | g.101421814A= | CA1868275587 | ALDOB | c.1090T= (p.Tyr364=) c.*102T= (n.*102T=) | |
| 9 | g.101421814A>C | CA374263955 | ALDOB | c.1090T>G (p.Tyr364Asp) c.*102T>G (n.*102T>G) | |
| 9 | g.101421814A>G | CA374263956 | ALDOB | c.1090T>C (p.Tyr364His) c.*102T>C (n.*102T>C) | gnomAD v4 |
| 9 | g.101421814A>T | CA5161381 | ALDOB | c.1090T>A (p.Tyr364Asn) c.*102T>A (n.*102T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421815G>A | CA5161382 | ALDOB | c.1089C>T (p.Thr363=) c.*101C>T (n.*101C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421815G>C | CA466461792 | ALDOB | c.1089C>G (p.Thr363=) c.*101C>G (n.*101C>G) | ClinVar |
| 9 | g.101421815G= | CA1868275590 | ALDOB | c.1089C= (p.Thr363=) c.*101C= (n.*101C=) | |
| 9 | g.101421815G>T | CA466461793 | ALDOB | c.1089C>A (p.Thr363=) c.*101C>A (n.*101C>A) | |
| 9 | g.101421816G>A | CA374263957 | ALDOB | c.1088C>T (p.Thr363Ile) c.*100C>T (n.*100C>T) | gnomAD v4 |
| 9 | g.101421816G>C | CA374263959 | ALDOB | c.1088C>G (p.Thr363Ser) c.*100C>G (n.*100C>G) | |
| 9 | g.101421816G>T | CA374263958 | ALDOB | c.1088C>A (p.Thr363Asn) c.*100C>A (n.*100C>A) | |
| 9 | g.101421817T>A | CA374263960 | ALDOB | c.1087A>T (p.Thr363Ser) c.*99A>T (n.*99A>T) | |
| 9 | g.101421817T>C | CA374263962 | ALDOB | c.1087A>G (p.Thr363Ala) c.*99A>G (n.*99A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421817T>G | CA374263961 | ALDOB | c.1087A>C (p.Thr363Pro) c.*99A>C (n.*99A>C) | |
| 9 | g.101421817T= | CA1868275592 | ALDOB | c.1087A= (p.Thr363=) c.*99A= (n.*99A=) | |
| 9 | g.101421818A>C | CA374263963 | ALDOB | c.1086T>G (p.Tyr362Ter) c.*98T>G (n.*98T>G) | |
| 9 | g.101421818A>G | CA466461794 | ALDOB | c.1086T>C (p.Tyr362=) c.*98T>C (n.*98T>C) | gnomAD v4 |
| 9 | g.101421818A>T | CA374263964 | ALDOB | c.1086T>A (p.Tyr362Ter) c.*98T>A (n.*98T>A) | |
| 9 | g.101421819T>A | CA374263965 | ALDOB | c.1085A>T (p.Tyr362Phe) c.*97A>T (n.*97A>T) | |
| 9 | g.101421819T>C | CA374263966 | ALDOB | c.1085A>G (p.Tyr362Cys) c.*97A>G (n.*97A>G) | |
| 9 | g.101421819T>G | CA374263967 | ALDOB | c.1085A>C (p.Tyr362Ser) c.*97A>C (n.*97A>C) | |
| 9 | g.101421820A= | CA1868275595 | ALDOB | c.1084T= (p.Tyr362=) c.*96T= (n.*96T=) | |
| 9 | g.101421820A>C | CA374263968 | ALDOB | c.1084T>G (p.Tyr362Asp) c.*96T>G (n.*96T>G) | |
| 9 | g.101421820A>G | CA5161383 | ALDOB | c.1084T>C (p.Tyr362His) c.*96T>C (n.*96T>C) | dbSNP ExAC gnomAD v4 |
| 9 | g.101421820A>T | CA374263969 | ALDOB | c.1084T>A (p.Tyr362Asn) c.*96T>A (n.*96T>A) | |
| 9 | g.101421821G>A | CA466461795 | ALDOB | c.1083C>T (p.Cys361=) c.*95C>T (n.*95C>T) | |
| 9 | g.101421821G>C | CA374263970 | ALDOB | c.1083C>G (p.Cys361Trp) c.*95C>G (n.*95C>G) | |
| 9 | g.101421821G>T | CA374263971 | ALDOB | c.1083C>A (p.Cys361Ter) c.*95C>A (n.*95C>A) | COSMIC |
| 9 | g.101421822C>A | CA374263972 | ALDOB | c.1082G>T (p.Cys361Phe) c.*94G>T (n.*94G>T) | |
| 9 | g.101421822C>G | CA374263973 | ALDOB | c.1082G>C (p.Cys361Ser) c.*94G>C (n.*94G>C) | |
| 9 | g.101421822C>T | CA374263974 | ALDOB | c.1082G>A (p.Cys361Tyr) c.*94G>A (n.*94G>A) | |
| 9 | g.101421823A= | CA1868275601 | ALDOB | c.1081T= (p.Cys361=) c.*93T= (n.*93T=) | |
| 9 | g.101421823A>C | CA374263977 | ALDOB | c.1081T>G (p.Cys361Gly) c.*93T>G (n.*93T>G) | |
| 9 | g.101421823A>G | CA374263975 | ALDOB | c.1081T>C (p.Cys361Arg) c.*93T>C (n.*93T>C) | dbSNP gnomAD v4 |
| 9 | g.101421823A>T | CA374263976 | ALDOB | c.1081T>A (p.Cys361Ser) c.*93T>A (n.*93T>A) | |
| 9 | g.101421824G>A | CA466461796 | ALDOB | c.1080C>T (p.Ala360=) c.*92C>T (n.*92C>T) | |
| 9 | g.101421824G>C | CA466461797 | ALDOB | c.1080C>G (p.Ala360=) c.*92C>G (n.*92C>G) | |
| 9 | g.101421824G>T | CA466461798 | ALDOB | c.1080C>A (p.Ala360=) c.*92C>A (n.*92C>A) | |
| 9 | g.101421825G>A | CA5161384 | ALDOB | c.1079C>T (p.Ala360Val) c.*91C>T (n.*91C>T) | dbSNP ExAC gnomAD v2 |
| 9 | g.101421825G>C | CA374263978 | ALDOB | c.1079C>G (p.Ala360Gly) c.*91C>G (n.*91C>G) | |
| 9 | g.101421825G= | CA1868275604 | ALDOB | c.1079C= (p.Ala360=) c.*91C= (n.*91C=) | |
| 9 | g.101421825G>T | CA374263979 | ALDOB | c.1079C>A (p.Ala360Asp) c.*91C>A (n.*91C>A) | |
| 9 | g.101421826C>A | CA374263980 | ALDOB | c.1078G>T (p.Ala360Ser) c.*90G>T (n.*90G>T) | |
| 9 | g.101421826C= | CA1868275606 | ALDOB | c.1078G= (p.Ala360=) c.*90G= (n.*90G=) | |
| 9 | g.101421826C>G | CA374263981 | ALDOB | c.1078G>C (p.Ala360Pro) c.*90G>C (n.*90G>C) | |
| 9 | g.101421826C>T | CA374263982 | ALDOB | c.1078G>A (p.Ala360Thr) c.*90G>A (n.*90G>A) | dbSNP |
| 9 | g.101421827T>A | CA466461799 | ALDOB | c.1077A>T (p.Thr359=) c.*89A>T (n.*89A>T) | |
| 9 | g.101421827T>C | CA466461800 | ALDOB | c.1077A>G (p.Thr359=) c.*89A>G (n.*89A>G) | dbSNP |
| 9 | g.101421827T>G | CA466461801 | ALDOB | c.1077A>C (p.Thr359=) c.*89A>C (n.*89A>C) | gnomAD v4 |
| 9 | g.101421827T= | CA1868275608 | ALDOB | c.1077A= (p.Thr359=) c.*89A= (n.*89A=) | |
| 9 | g.101421828G>A | CA374263983 | ALDOB | c.1076C>T (p.Thr359Ile) c.*88C>T (n.*88C>T) | |
| 9 | g.101421828G>C | CA374263984 | ALDOB | c.1076C>G (p.Thr359Arg) c.*88C>G (n.*88C>G) | |
| 9 | g.101421828G>T | CA374263985 | ALDOB | c.1076C>A (p.Thr359Lys) c.*88C>A (n.*88C>A) | |
| 9 | g.101421829T>A | CA374263986 | ALDOB | c.1075A>T (p.Thr359Ser) c.*87A>T (n.*87A>T) | |
| 9 | g.101421829T>C | CA374263987 | ALDOB | c.1075A>G (p.Thr359Ala) c.*87A>G (n.*87A>G) | |
| 9 | g.101421829T>G | CA374263988 | ALDOB | c.1075A>C (p.Thr359Pro) c.*87A>C (n.*87A>C) | |
| 9 | g.101421830G>A | CA466461802 | ALDOB | c.1074C>T (p.Phe358=) c.*86C>T (n.*86C>T) | COSMIC |
| 9 | g.101421830G>C | CA374263989 | ALDOB | c.1074C>G (p.Phe358Leu) c.*86C>G (n.*86C>G) | |
| 9 | g.101421830G>T | CA374263990 | ALDOB | c.1074C>A (p.Phe358Leu) c.*86C>A (n.*86C>A) | |
| 9 | g.101421831A>C | CA374263991 | ALDOB | c.1073T>G (p.Phe358Cys) c.*85T>G (n.*85T>G) | |
| 9 | g.101421831A>G | CA374263992 | ALDOB | c.1073T>C (p.Phe358Ser) c.*85T>C (n.*85T>C) | |
| 9 | g.101421831A>T | CA374263993 | ALDOB | c.1073T>A (p.Phe358Tyr) c.*85T>A (n.*85T>A) | |
| 9 | g.101421832A>C | CA374263994 | ALDOB | c.1072T>G (p.Phe358Val) c.*84T>G (n.*84T>G) | |
| 9 | g.101421832A>G | CA374263995 | ALDOB | c.1072T>C (p.Phe358Leu) c.*84T>C (n.*84T>C) | |
| 9 | g.101421832A>T | CA374263996 | ALDOB | c.1072T>A (p.Phe358Ile) c.*84T>A (n.*84T>A) | |
| 9 | g.101421833G>A | CA466461805 | ALDOB | c.1071C>T (p.Leu357=) c.*83C>T (n.*83C>T) | |
| 9 | g.101421833G>C | CA466461804 | ALDOB | c.1071C>G (p.Leu357=) c.*83C>G (n.*83C>G) | |
| 9 | g.101421833G= | CA1868275610 | ALDOB | c.1071C= (p.Leu357=) c.*83C= (n.*83C=) | |
| 9 | g.101421833G>T | CA466461803 | ALDOB | c.1071C>A (p.Leu357=) c.*83C>A (n.*83C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421834A>C | CA374263997 | ALDOB | c.1070T>G (p.Leu357Arg) c.*82T>G (n.*82T>G) | |
| 9 | g.101421834A>G | CA374263998 | ALDOB | c.1070T>C (p.Leu357Pro) c.*82T>C (n.*82T>C) | |
| 9 | g.101421834A>T | CA374263999 | ALDOB | c.1070T>A (p.Leu357His) c.*82T>A (n.*82T>A) | |
| 9 | g.101421835G>A | CA374264000 | ALDOB | c.1069C>T (p.Leu357Phe) c.*81C>T (n.*81C>T) | |
| 9 | g.101421835G>C | CA196955806 | ALDOB | c.1069C>G (p.Leu357Val) c.*81C>G (n.*81C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421835G= | CA1868275614 | ALDOB | c.1069C= (p.Leu357=) c.*81C= (n.*81C=) | |
| 9 | g.101421835G>T | CA374264001 | ALDOB | c.1069C>A (p.Leu357Ile) c.*81C>A (n.*81C>A) | |
| 9 | g.101421835_101421837del | CA2508682165 | ALDOB | c.1067_1069del (p.Ser356_Leu357delinsPhe) c.*79_*81del (n.*79_*81del) | |
| 9 | g.101421836C>A | CA466461806 | ALDOB | c.1068G>T (p.Ser356=) c.*80G>T (n.*80G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421836C= | CA1868275616 | ALDOB | c.1068G= (p.Ser356=) c.*80G= (n.*80G=) | |
| 9 | g.101421836C>G | CA466461807 | ALDOB | c.1068G>C (p.Ser356=) c.*80G>C (n.*80G>C) | |
| 9 | g.101421836C>T | CA5161385 | ALDOB | c.1068G>A (p.Ser356=) c.*80G>A (n.*80G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421837G>A | CA5161386 | ALDOB | c.1067C>T (p.Ser356Leu) c.*79C>T (n.*79C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421837G>C | CA374264002 | ALDOB | c.1067C>G (p.Ser356Trp) c.*79C>G (n.*79C>G) | |
| 9 | g.101421837G= | CA1868275622 | ALDOB | c.1067C= (p.Ser356=) c.*79C= (n.*79C=) | |
| 9 | g.101421837G>T | CA374264003 | ALDOB | c.1067C>A (p.Ser356Ter) c.*79C>A (n.*79C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421838A>C | CA374264004 | ALDOB | c.1066T>G (p.Ser356Ala) c.*78T>G (n.*78T>G) | |
| 9 | g.101421838A>G | CA374264005 | ALDOB | c.1066T>C (p.Ser356Pro) c.*78T>C (n.*78T>C) | gnomAD v4 |
| 9 | g.101421838A>T | CA374264006 | ALDOB | c.1066T>A (p.Ser356Thr) c.*78T>A (n.*78T>A) | |
| 9 | g.101421839C>A | CA374264007 | ALDOB | c.1065G>T (p.Gln355His) c.*77G>T (n.*77G>T) | |
| 9 | g.101421839C= | CA1868275626 | ALDOB | c.1065G= (p.Gln355=) c.*77G= (n.*77G=) | |
| 9 | g.101421839C>G | CA374264008 | ALDOB | c.1065G>C (p.Gln355His) c.*77G>C (n.*77G>C) | |
| 9 | g.101421839C>T | CA466461808 | ALDOB | c.1065G>A (p.Gln355=) c.*77G>A (n.*77G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421840T>A | CA374264009 | ALDOB | c.1064A>T (p.Gln355Leu) c.*76A>T (n.*76A>T) | |
| 9 | g.101421840T>C | CA5161387 | ALDOB | c.1064A>G (p.Gln355Arg) c.*76A>G (n.*76A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421840T>G | CA374264010 | ALDOB | c.1064A>C (p.Gln355Pro) c.*76A>C (n.*76A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421840T= | CA1868275628 | ALDOB | c.1064A= (p.Gln355=) c.*76A= (n.*76A=) | |
| 9 | g.101421841G>A | CA374264011 | ALDOB | c.1063C>T (p.Gln355Ter) c.*75C>T (n.*75C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421841G>C | CA374264012 | ALDOB | c.1063C>G (p.Gln355Glu) c.*75C>G (n.*75C>G) | |
| 9 | g.101421841G= | CA1868275636 | ALDOB | c.1063C= (p.Gln355=) c.*75C= (n.*75C=) | |
| 9 | g.101421841G>T | CA374264013 | ALDOB | c.1063C>A (p.Gln355Lys) c.*75C>A (n.*75C>A) | gnomAD v4 |
| 9 | g.101421842G>A | CA466461809 | ALDOB | c.1062C>T (p.Thr354=) c.*74C>T (n.*74C>T) | ClinVar dbSNP |
| 9 | g.101421842G>C | CA5161388 | ALDOB | c.1062C>G (p.Thr354=) c.*74C>G (n.*74C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421842G= | CA1868275643 | ALDOB | c.1062C= (p.Thr354=) c.*74C= (n.*74C=) | |
| 9 | g.101421842G>T | CA466461810 | ALDOB | c.1062C>A (p.Thr354=) c.*74C>A (n.*74C>A) | |
| 9 | g.101421843G>A | CA374264014 | ALDOB | c.1061C>T (p.Thr354Ile) c.*73C>T (n.*73C>T) | |
| 9 | g.101421843G>C | CA374264016 | ALDOB | c.1061C>G (p.Thr354Ser) c.*73C>G (n.*73C>G) | |
| 9 | g.101421843G>T | CA374264015 | ALDOB | c.1061C>A (p.Thr354Asn) c.*73C>A (n.*73C>A) | |
| 9 | g.101421844T>A | CA374264017 | ALDOB | c.1060A>T (p.Thr354Ser) c.*72A>T (n.*72A>T) | |
| 9 | g.101421844T>C | CA374264019 | ALDOB | c.1060A>G (p.Thr354Ala) c.*72A>G (n.*72A>G) | |
| 9 | g.101421844T>G | CA374264018 | ALDOB | c.1060A>C (p.Thr354Pro) c.*72A>C (n.*72A>C) | dbSNP |
| 9 | g.101421844T= | CA1868275645 | ALDOB | c.1060A= (p.Thr354=) c.*72A= (n.*72A=) | |
| 9 | g.101421845G>A | CA466461811 | ALDOB | c.1059C>T (p.Ser353=) c.*71C>T (n.*71C>T) | ClinVar |
| 9 | g.101421845G>C | CA466461812 | ALDOB | c.1059C>G (p.Ser353=) c.*71C>G (n.*71C>G) | |
| 9 | g.101421845G>T | CA466461813 | ALDOB | c.1059C>A (p.Ser353=) c.*71C>A (n.*71C>A) | |
| 9 | g.101421846G>A | CA374264020 | ALDOB | c.1058C>T (p.Ser353Phe) c.*70C>T (n.*70C>T) | |
| 9 | g.101421846G>C | CA374264021 | ALDOB | c.1058C>G (p.Ser353Cys) c.*70C>G (n.*70C>G) | |
| 9 | g.101421846G>T | CA374264022 | ALDOB | c.1058C>A (p.Ser353Tyr) c.*70C>A (n.*70C>A) | |
| 9 | g.101421847A= | CA1868275648 | ALDOB | c.1057T= (p.Ser353=) c.*69T= (n.*69T=) | |
| 9 | g.101421847A>C | CA374264023 | ALDOB | c.1057T>G (p.Ser353Ala) c.*69T>G (n.*69T>G) | dbSNP |
| 9 | g.101421847A>G | CA5161389 | ALDOB | c.1057T>C (p.Ser353Pro) c.*69T>C (n.*69T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421847A>T | CA374264024 | ALDOB | c.1057T>A (p.Ser353Thr) c.*69T>A (n.*69T>A) | |
| 9 | g.101421847_101421851del | CA2533753277 | ALDOB | c.1053_1057del (p.Ala352HisfsTer?) c.*65_*69del (n.*65_*69del) | |
| 9 | g.101421848A>C | CA466461814 | ALDOB | c.1056T>G (p.Ala352=) c.*68T>G (n.*68T>G) | |
| 9 | g.101421848A>G | CA466461815 | ALDOB | c.1056T>C (p.Ala352=) c.*68T>C (n.*68T>C) | |
| 9 | g.101421848A>T | CA466461816 | ALDOB | c.1056T>A (p.Ala352=) c.*68T>A (n.*68T>A) | |
| 9 | g.101421849G>A | CA374264025 | ALDOB | c.1055C>T (p.Ala352Val) c.*67C>T (n.*67C>T) | gnomAD v4 |
| 9 | g.101421849G>C | CA374264026 | ALDOB | c.1055C>G (p.Ala352Gly) c.*67C>G (n.*67C>G) | |
| 9 | g.101421849G>T | CA374264027 | ALDOB | c.1055C>A (p.Ala352Asp) c.*67C>A (n.*67C>A) | |
| 9 | g.101421850C>A | CA5161390 | ALDOB | c.1054G>T (p.Ala352Ser) c.*66G>T (n.*66G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101421850C= | CA1868275650 | ALDOB | c.1054G= (p.Ala352=) c.*66G= (n.*66G=) | |
| 9 | g.101421850C>G | CA374264028 | ALDOB | c.1054G>C (p.Ala352Pro) c.*66G>C (n.*66G>C) | |
| 9 | g.101421850C>T | CA374264029 | ALDOB | c.1054G>A (p.Ala352Thr) c.*66G>A (n.*66G>A) | |
| 9 | g.101421851A>C | CA466461817 | ALDOB | c.1053T>G (p.Ala351=) c.*65T>G (n.*65T>G) | |
| 9 | g.101421851A>G | CA466461819 | ALDOB | c.1053T>C (p.Ala351=) c.*65T>C (n.*65T>C) | |
| 9 | g.101421851A>T | CA466461818 | ALDOB | c.1053T>A (p.Ala351=) c.*65T>A (n.*65T>A) | |
| 9 | g.101421852G>A | CA374264032 | ALDOB | c.1052C>T (p.Ala351Val) c.*64C>T (n.*64C>T) | gnomAD v4 |
| 9 | g.101421852G>C | CA374264030 | ALDOB | c.1052C>G (p.Ala351Gly) c.*64C>G (n.*64C>G) | |
| 9 | g.101421852G>T | CA374264031 | ALDOB | c.1052C>A (p.Ala351Asp) c.*64C>A (n.*64C>A) | |
| 9 | g.101421853C>A | CA374264033 | ALDOB | c.1051G>T (p.Ala351Ser) c.*63G>T (n.*63G>T) | |
| 9 | g.101421853C= | CA1868275652 | ALDOB | c.1051G= (p.Ala351=) c.*63G= (n.*63G=) | |
| 9 | g.101421853C>G | CA374264034 | ALDOB | c.1051G>C (p.Ala351Pro) c.*63G>C (n.*63G>C) | |
| 9 | g.101421853C>T | CA374264035 | ALDOB | c.1051G>A (p.Ala351Thr) c.*63G>A (n.*63G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421854C>A | CA466461820 | ALDOB | c.1050G>T (p.Gly350=) c.*62G>T (n.*62G>T) | dbSNP |
| 9 | g.101421854C= | CA1868275660 | ALDOB | c.1050G= (p.Gly350=) c.*62G= (n.*62G=) | |
| 9 | g.101421854C>G | CA466461821 | ALDOB | c.1050G>C (p.Gly350=) c.*62G>C (n.*62G>C) | |
| 9 | g.101421854C>T | CA466461822 | ALDOB | c.1050G>A (p.Gly350=) c.*62G>A (n.*62G>A) | |
| 9 | g.101421854_101421855delinsTT | CA645547391 | ALDOB | c.1049_1050delinsAA (p.Gly350Glu) c.*61_*62delinsAA (n.*61_*62delinsAA) | COSMIC |
| 9 | g.101421854_101421863delinsCCCAGAAGAA | CA1868275658 | ALDOB | c.1041_1050delinsTTCTTCTGGG (p.Gly347=) c.*53_*62delinsTTCTTCTGGG (n.*53_*62delinsTTCTTCTGGG) | |
| 9 | g.101421855C>A | CA374264036 | ALDOB | c.1049G>T (p.Gly350Val) c.*61G>T (n.*61G>T) | gnomAD v4 |
| 9 | g.101421855C= | CA1868275663 | ALDOB | c.1049G= (p.Gly350=) c.*61G= (n.*61G=) | |
| 9 | g.101421855C>G | CA5161391 | ALDOB | c.1049G>C (p.Gly350Ala) c.*61G>C (n.*61G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421855C>T | CA196955818 | ALDOB | c.1049G>A (p.Gly350Glu) c.*61G>A (n.*61G>A) | dbSNP |
| 9 | g.101421855_101421860delinsAGTGT | CA2499219510 | ALDOB | c.1044_1049delinsACACT (p.Ser349HisfsTer24) c.*56_*61delinsACACT (n.*56_*61delinsACACT) | ClinVar dbSNP |
| 9 | g.101421857_101421865del | CA589815522 | ALDOB | c.1041_1049del (p.Ser348_Gly350del) c.*53_*61del (n.*53_*61del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421856C>A | CA374264037 | ALDOB | c.1048G>T (p.Gly350Trp) c.*60G>T (n.*60G>T) | |
| 9 | g.101421856C= | CA1868275666 | ALDOB | c.1048G= (p.Gly350=) c.*60G= (n.*60G=) | |
| 9 | g.101421856C>G | CA374264038 | ALDOB | c.1048G>C (p.Gly350Arg) c.*60G>C (n.*60G>C) | |
| 9 | g.101421856C>T | CA374264039 | ALDOB | c.1048G>A (p.Gly350Arg) c.*60G>A (n.*60G>A) | dbSNP |
| 9 | g.101421856_101421857insGTATCATT | CA2569935629 | ALDOB | c.1047_1048insAATGATAC (p.Gly350AsnfsTer26) c.*59_*60insAATGATAC (n.*59_*60insAATGATAC) | |
| 9 | g.101421857A= | CA1868275668 | ALDOB | c.1047T= (p.Ser349=) c.*59T= (n.*59T=) | |
| 9 | g.101421857A>C | CA466461823 | ALDOB | c.1047T>G (p.Ser349=) c.*59T>G (n.*59T>G) | |
| 9 | g.101421857A>G | CA5161392 | ALDOB | c.1047T>C (p.Ser349=) c.*59T>C (n.*59T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421857A>T | CA466461824 | ALDOB | c.1047T>A (p.Ser349=) c.*59T>A (n.*59T>A) | dbSNP |
| 9 | g.101421858G>A | CA374264042 | ALDOB | c.1046C>T (p.Ser349Phe) c.*58C>T (n.*58C>T) | |
| 9 | g.101421858G>C | CA374264041 | ALDOB | c.1046C>G (p.Ser349Cys) c.*58C>G (n.*58C>G) | |
| 9 | g.101421858G>T | CA374264040 | ALDOB | c.1046C>A (p.Ser349Tyr) c.*58C>A (n.*58C>A) | |
| 9 | g.101421859A>C | CA374264043 | ALDOB | c.1045T>G (p.Ser349Ala) c.*57T>G (n.*57T>G) | |
| 9 | g.101421859A>G | CA374264044 | ALDOB | c.1045T>C (p.Ser349Pro) c.*57T>C (n.*57T>C) | |
| 9 | g.101421859A>T | CA374264045 | ALDOB | c.1045T>A (p.Ser349Thr) c.*57T>A (n.*57T>A) | |
| 9 | g.101421860A>C | CA466461825 | ALDOB | c.1044T>G (p.Ser348=) c.*56T>G (n.*56T>G) | |
| 9 | g.101421860A>G | CA466461826 | ALDOB | c.1044T>C (p.Ser348=) c.*56T>C (n.*56T>C) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421860A>T | CA466461827 | ALDOB | c.1044T>A (p.Ser348=) c.*56T>A (n.*56T>A) | |
| 9 | g.101421861G>A | CA374264046 | ALDOB | c.1043C>T (p.Ser348Phe) c.*55C>T (n.*55C>T) | COSMIC |
| 9 | g.101421861G>C | CA374264047 | ALDOB | c.1043C>G (p.Ser348Cys) c.*55C>G (n.*55C>G) | |
| 9 | g.101421861G>T | CA374264048 | ALDOB | c.1043C>A (p.Ser348Tyr) c.*55C>A (n.*55C>A) | |
| 9 | g.101421862A>C | CA374264049 | ALDOB | c.1042T>G (p.Ser348Ala) c.*54T>G (n.*54T>G) | |
| 9 | g.101421862A>G | CA374264050 | ALDOB | c.1042T>C (p.Ser348Pro) c.*54T>C (n.*54T>C) | |
| 9 | g.101421862A>T | CA374264051 | ALDOB | c.1042T>A (p.Ser348Thr) c.*54T>A (n.*54T>A) | |
| 9 | g.101421863A= | CA1868275672 | ALDOB | c.1041T= (p.Gly347=) c.*53T= (n.*53T=) | |
| 9 | g.101421863A>C | CA466461828 | ALDOB | c.1041T>G (p.Gly347=) c.*53T>G (n.*53T>G) | |
| 9 | g.101421863A>G | CA466461829 | ALDOB | c.1041T>C (p.Gly347=) c.*53T>C (n.*53T>C) | dbSNP |
| 9 | g.101421863A>T | CA466461830 | ALDOB | c.1041T>A (p.Gly347=) c.*53T>A (n.*53T>A) | |
| 9 | g.101421864C>A | CA374264052 | ALDOB | c.1040G>T (p.Gly347Val) c.*52G>T (n.*52G>T) | |
| 9 | g.101421864C>G | CA374264053 | ALDOB | c.1040G>C (p.Gly347Ala) c.*52G>C (n.*52G>C) | |
| 9 | g.101421864C>T | CA374264054 | ALDOB | c.1040G>A (p.Gly347Asp) c.*52G>A (n.*52G>A) | |
| 9 | g.101421866del | CA2691006413 | ALDOB | c.1040del (p.Gly347ValfsTer26) c.*52del (n.*52del) | gnomAD v4 |
| 9 | g.101421865C>A | CA374264057 | ALDOB | c.1039G>T (p.Gly347Cys) c.*51G>T (n.*51G>T) | gnomAD v4 |
| 9 | g.101421865C>G | CA374264056 | ALDOB | c.1039G>C (p.Gly347Arg) c.*51G>C (n.*51G>C) | |
| 9 | g.101421865C>T | CA374264055 | ALDOB | c.1039G>A (p.Gly347Ser) c.*51G>A (n.*51G>A) | gnomAD v4 |
| 9 | g.101421866C>A | CA466461831 | ALDOB | c.1038G>T (p.Thr346=) c.*50G>T (n.*50G>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101421866C= | CA1868275675 | ALDOB | c.1038G= (p.Thr346=) c.*50G= (n.*50G=) | |
| 9 | g.101421866C>G | CA466461832 | ALDOB | c.1038G>C (p.Thr346=) c.*50G>C (n.*50G>C) | |
| 9 | g.101421866C>T | CA5161393 | ALDOB | c.1038G>A (p.Thr346=) c.*50G>A (n.*50G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421867G>A | CA5161394 | ALDOB | c.1037C>T (p.Thr346Met) c.*49C>T (n.*49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421867G>C | CA374264058 | ALDOB | c.1037C>G (p.Thr346Arg) c.*49C>G (n.*49C>G) | |
| 9 | g.101421867G= | CA1868275679 | ALDOB | c.1037C= (p.Thr346=) c.*49C= (n.*49C=) | |
| 9 | g.101421867G>T | CA374264059 | ALDOB | c.1037C>A (p.Thr346Lys) c.*49C>A (n.*49C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101421868T>A | CA374264060 | ALDOB | c.1036A>T (p.Thr346Ser) c.*48A>T (n.*48A>T) | |
| 9 | g.101421868T>C | CA374264061 | ALDOB | c.1036A>G (p.Thr346Ala) c.*48A>G (n.*48A>G) | |
| 9 | g.101421868T>G | CA374264062 | ALDOB | c.1036A>C (p.Thr346Pro) c.*48A>C (n.*48A>C) | |
| 9 | g.101421869G>A | CA5161395 | ALDOB | c.1035C>T (p.His345=) c.*47C>T (n.*47C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421869G>C | CA374264063 | ALDOB | c.1035C>G (p.His345Gln) c.*47C>G (n.*47C>G) | |
| 9 | g.101421869G= | CA1868275684 | ALDOB | c.1035C= (p.His345=) c.*47C= (n.*47C=) | |
| 9 | g.101421869G>T | CA374264064 | ALDOB | c.1035C>A (p.His345Gln) c.*47C>A (n.*47C>A) | dbSNP |
| 9 | g.101421870T>A | CA374264065 | ALDOB | c.1034A>T (p.His345Leu) c.*46A>T (n.*46A>T) | |
| 9 | g.101421870T>C | CA374264066 | ALDOB | c.1034A>G (p.His345Arg) c.*46A>G (n.*46A>G) | |
| 9 | g.101421870T>G | CA374264067 | ALDOB | c.1034A>C (p.His345Pro) c.*46A>C (n.*46A>C) | |
| 9 | g.101421871G>A | CA5161396 | ALDOB | c.1033C>T (p.His345Tyr) c.*45C>T (n.*45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101421871G>C | CA374264069 | ALDOB | c.1033C>G (p.His345Asp) c.*45C>G (n.*45C>G) | |
| 9 | g.101421871G= | CA1868275688 | ALDOB | c.1033C= (p.His345=) c.*45C= (n.*45C=) | |
| 9 | g.101421871G>T | CA374264068 | ALDOB | c.1033C>A (p.His345Asn) c.*45C>A (n.*45C>A) | |
| 9 | g.101421872A>C | CA466461834 | ALDOB | c.1032T>G (p.Val344=) c.*44T>G (n.*44T>G) | |
| 9 | g.101421872A>G | CA466461835 | ALDOB | c.1032T>C (p.Val344=) c.*44T>C (n.*44T>C) | |
| 9 | g.101421872A>T | CA466461833 | ALDOB | c.1032T>A (p.Val344=) c.*44T>A (n.*44T>A) | |
| 9 | g.101421873A>C | CA374264071 | ALDOB | c.1031T>G (p.Val344Gly) c.*43T>G (n.*43T>G) | |
| 9 | g.101421873A>G | CA374264070 | ALDOB | c.1031T>C (p.Val344Ala) c.*43T>C (n.*43T>C) | |
| 9 | g.101421873A>T | CA374264072 | ALDOB | c.1031T>A (p.Val344Asp) c.*43T>A (n.*43T>A) | |
| 9 | g.101421874C>A | CA374264073 | ALDOB | c.1030G>T (p.Val344Phe) c.*42G>T (n.*42G>T) | |
| 9 | g.101421874C= | CA1868275691 | ALDOB | c.1030G= (p.Val344=) c.*42G= (n.*42G=) | |
| 9 | g.101421874C>G | CA374264075 | ALDOB | c.1030G>C (p.Val344Leu) c.*42G>C (n.*42G>C) | |
| 9 | g.101421874C>T | CA374264074 | ALDOB | c.1030G>A (p.Val344Ile) c.*42G>A (n.*42G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101421875A= | CA1868275695 | ALDOB | c.1029T= (p.Tyr343=) c.*41T= (n.*41T=) | |
| 9 | g.101421875A>C | CA374264076 | ALDOB | c.1029T>G (p.Tyr343Ter) c.*41T>G (n.*41T>G) | |
| 9 | g.101421875A>G | CA466461836 | ALDOB | c.1029T>C (p.Tyr343=) c.*41T>C (n.*41T>C) | dbSNP gnomAD v4 |
| 9 | g.101421875A>T | CA374264077 | ALDOB | c.1029T>A (p.Tyr343Ter) c.*41T>A (n.*41T>A) | |
| 9 | g.101421876T>A | CA374264078 | ALDOB | c.1028A>T (p.Tyr343Phe) c.*40A>T (n.*40A>T) | |
| 9 | g.101421876T>C | CA374264080 | ALDOB | c.1028A>G (p.Tyr343Cys) c.*40A>G (n.*40A>G) | dbSNP gnomAD v4 |
| 9 | g.101421876T>G | CA374264079 | ALDOB | c.1028A>C (p.Tyr343Ser) c.*40A>C (n.*40A>C) | |
| 9 | g.101421876T= | CA1868275698 | ALDOB | c.1028A= (p.Tyr343=) c.*40A= (n.*40A=) | |
| 9 | g.101421877A= | CA1868275701 | ALDOB | c.1027T= (p.Tyr343=) c.*39T= (n.*39T=) | |
| 9 | g.101421877A>C | CA374264081 | ALDOB | c.1027T>G (p.Tyr343Asp) c.*39T>G (n.*39T>G) | |
| 9 | g.101421877A>G | CA129581 | ALDOB | c.1027T>C (p.Tyr343His) c.*39T>C (n.*39T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421877A>T | CA374264082 | ALDOB | c.1027T>A (p.Tyr343Asn) c.*39T>A (n.*39T>A) |