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.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101428478_101428505del | CA2499219520 | ALDOB | c.345_372del (p.Leu116PhefsTer28) n.67+1306_67+1333del | ClinVar dbSNP |
| 9 | g.101428479G>A | CA466462952 | ALDOB | c.369C>T (p.Thr123=) n.67+1330C>T | |
| 9 | g.101428479G>C | CA466462953 | ALDOB | c.369C>G (p.Thr123=) n.67+1330C>G | |
| 9 | g.101428479G= | CA1868280503 | ALDOB | c.369C= (p.Thr123=) n.67+1330C= | |
| 9 | g.101428479G>T | CA5161644 | ALDOB | c.369C>A (p.Thr123=) n.67+1330C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428480G>A | CA374265519 | ALDOB | c.368C>T (p.Thr123Ile) n.67+1329C>T | |
| 9 | g.101428480G>C | CA374265520 | ALDOB | c.368C>G (p.Thr123Ser) n.67+1329C>G | |
| 9 | g.101428480G>T | CA374265521 | ALDOB | c.368C>A (p.Thr123Asn) n.67+1329C>A | |
| 9 | g.101428481T>A | CA374265523 | ALDOB | c.367A>T (p.Thr123Ser) n.67+1328A>T | |
| 9 | g.101428481T>C | CA374265524 | ALDOB | c.367A>G (p.Thr123Ala) n.67+1328A>G | |
| 9 | g.101428481T>G | CA374265522 | ALDOB | c.367A>C (p.Thr123Pro) n.67+1328A>C | |
| 9 | g.101428482T>A | CA374265525 | ALDOB | c.366A>T (p.Glu122Asp) n.67+1327A>T | |
| 9 | g.101428482T>C | CA466462954 | ALDOB | c.366A>G (p.Glu122=) n.67+1327A>G | |
| 9 | g.101428482T>G | CA374265526 | ALDOB | c.366A>C (p.Glu122Asp) n.67+1327A>C | |
| 9 | g.101428483T>A | CA374265527 | ALDOB | c.365A>T (p.Glu122Val) n.67+1326A>T | |
| 9 | g.101428483T>C | CA5161645 | ALDOB | c.365A>G (p.Glu122Gly) n.67+1326A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428483T>G | CA374265528 | ALDOB | c.365A>C (p.Glu122Ala) n.67+1326A>C | |
| 9 | g.101428483T= | CA1868280504 | ALDOB | c.365A= (p.Glu122=) n.67+1326A= | |
| 9 | g.101428484C>A | CA374265529 | ALDOB | c.364G>T (p.Glu122Ter) n.67+1325G>T | |
| 9 | g.101428484C= | CA1868280506 | ALDOB | c.364G= (p.Glu122=) n.67+1325G= | |
| 9 | g.101428484C>G | CA374265531 | ALDOB | c.364G>C (p.Glu122Gln) n.67+1325G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428484C>T | CA374265530 | ALDOB | c.364G>A (p.Glu122Lys) n.67+1325G>A | gnomAD v4 |
| 9 | g.101428484_101428488delinsCTTTG | CA1868280505 | ALDOB | c.360_364delinsCAAAG (p.Asn120=) n.67+1321_67+1325delinsCAAAG | |
| 9 | g.101428485T>A | CA374265532 | ALDOB | c.363A>T (p.Lys121Asn) n.67+1324A>T | |
| 9 | g.101428485T>C | CA466462955 | ALDOB | c.363A>G (p.Lys121=) n.67+1324A>G | COSMIC |
| 9 | g.101428485T>G | CA374265533 | ALDOB | c.363A>C (p.Lys121Asn) n.67+1324A>C | |
| 9 | g.101428487dup | CA5161646 | ALDOB | c.363dup (p.Glu122ArgfsTer8) n.67+1324dup | dbSNP ExAC gnomAD v2 |
| 9 | g.101428491_101428494dup | CA1868280507 | ALDOB | c.360_363dup (p.Glu122GlnfsTer9) n.67+1321_67+1324dup | dbSNP |
| 9 | g.101428491_101428494del | CA114307 | ALDOB | c.360_363del (p.Asn120LysfsTer?) n.67+1321_67+1324del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101428486T>A | CA374265534 | ALDOB | c.362A>T (p.Lys121Ile) n.67+1323A>T | |
| 9 | g.101428486T>C | CA374265535 | ALDOB | c.362A>G (p.Lys121Arg) n.67+1323A>G | |
| 9 | g.101428486T>G | CA374265536 | ALDOB | c.362A>C (p.Lys121Thr) n.67+1323A>C | |
| 9 | g.101428487T>A | CA374265537 | ALDOB | c.361A>T (p.Lys121Ter) n.67+1322A>T | |
| 9 | g.101428487T>C | CA374265539 | ALDOB | c.361A>G (p.Lys121Glu) n.67+1322A>G | gnomAD v4 |
| 9 | g.101428487T>G | CA374265538 | ALDOB | c.361A>C (p.Lys121Gln) n.67+1322A>C | |
| 9 | g.101428488del | CA2573143648 | ALDOB | c.360del (p.Asn120LysfsTer?) n.67+1321del | ClinVar dbSNP gnomAD v4 |
| 9 | g.101428488G>A | CA466462956 | ALDOB | c.360C>T (p.Asn120=) n.67+1321C>T | gnomAD v4 |
| 9 | g.101428488G>C | CA5161647 | ALDOB | c.360C>G (p.Asn120Lys) n.67+1321C>G | dbSNP ExAC gnomAD v2 |
| 9 | g.101428488G= | CA1868280509 | ALDOB | c.360C= (p.Asn120=) n.67+1321C= | |
| 9 | g.101428488G>T | CA374265540 | ALDOB | c.360C>A (p.Asn120Lys) n.67+1321C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428488_101428489delinsGT | CA1868280508 | ALDOB | c.359_360delinsAC (p.Asn120=) n.67+1320_67+1321delinsAC | |
| 9 | g.101428489T>A | CA374265541 | ALDOB | c.359A>T (p.Asn120Ile) n.67+1320A>T | |
| 9 | g.101428489T>C | CA374265542 | ALDOB | c.359A>G (p.Asn120Ser) n.67+1320A>G | |
| 9 | g.101428489T>G | CA374265543 | ALDOB | c.359A>C (p.Asn120Thr) n.67+1320A>C | |
| 9 | g.101428491del | CA857733751 | ALDOB | c.359del (p.Asn120ThrfsTer?) n.67+1320del | dbSNP gnomAD v4 |
| 9 | g.101428490T>A | CA374265544 | ALDOB | c.358A>T (p.Asn120Tyr) n.67+1319A>T | |
| 9 | g.101428490T>C | CA374265546 | ALDOB | c.358A>G (p.Asn120Asp) n.67+1319A>G | |
| 9 | g.101428490T>G | CA374265545 | ALDOB | c.358A>C (p.Asn120His) n.67+1319A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428490T= | CA1868280510 | ALDOB | c.358A= (p.Asn120=) n.67+1319A= | |
| 9 | g.101428491T>A | CA466462957 | ALDOB | c.357A>T (p.Thr119=) n.67+1318A>T | |
| 9 | g.101428491T>C | CA466462958 | ALDOB | c.357A>G (p.Thr119=) n.67+1318A>G | |
| 9 | g.101428491T>G | CA466462959 | ALDOB | c.357A>C (p.Thr119=) n.67+1318A>C | |
| 9 | g.101428492G>A | CA374265547 | ALDOB | c.356C>T (p.Thr119Ile) n.67+1317C>T | |
| 9 | g.101428492G>C | CA374265548 | ALDOB | c.356C>G (p.Thr119Arg) n.67+1317C>G | dbSNP |
| 9 | g.101428492G= | CA1868280511 | ALDOB | c.356C= (p.Thr119=) n.67+1317C= | |
| 9 | g.101428492G>T | CA374265549 | ALDOB | c.356C>A (p.Thr119Lys) n.67+1317C>A | |
| 9 | g.101428493T>A | CA374265550 | ALDOB | c.355A>T (p.Thr119Ser) n.67+1316A>T | |
| 9 | g.101428493T>C | CA374265551 | ALDOB | c.355A>G (p.Thr119Ala) n.67+1316A>G | |
| 9 | g.101428493T>G | CA374265552 | ALDOB | c.355A>C (p.Thr119Pro) n.67+1316A>C | |
| 9 | g.101428494T>A | CA466462960 | ALDOB | c.354A>T (p.Gly118=) n.67+1315A>T | |
| 9 | g.101428494T>C | CA466462961 | ALDOB | c.354A>G (p.Gly118=) n.67+1315A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428494T>G | CA466462962 | ALDOB | c.354A>C (p.Gly118=) n.67+1315A>C | |
| 9 | g.101428494T= | CA1868280512 | ALDOB | c.354A= (p.Gly118=) n.67+1315A= | |
| 9 | g.101428495C>A | CA374265553 | ALDOB | c.353G>T (p.Gly118Val) n.67+1314G>T | |
| 9 | g.101428495C= | CA1868280513 | ALDOB | c.353G= (p.Gly118=) n.67+1314G= | |
| 9 | g.101428495C>G | CA374265554 | ALDOB | c.353G>C (p.Gly118Ala) n.67+1314G>C | dbSNP |
| 9 | g.101428495C>T | CA374265555 | ALDOB | c.353G>A (p.Gly118Glu) n.67+1314G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101428496C>A | CA374265556 | ALDOB | c.352G>T (p.Gly118Ter) n.67+1313G>T | |
| 9 | g.101428496C= | CA1868280514 | ALDOB | c.352G= (p.Gly118=) n.67+1313G= | |
| 9 | g.101428496C>G | CA374265557 | ALDOB | c.352G>C (p.Gly118Arg) n.67+1313G>C | |
| 9 | g.101428496C>T | CA5161648 | ALDOB | c.352G>A (p.Gly118Arg) n.67+1313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428497T>A | CA466462963 | ALDOB | c.351A>T (p.Ala117=) n.67+1312A>T | |
| 9 | g.101428497T>C | CA466462965 | ALDOB | c.351A>G (p.Ala117=) n.67+1312A>G | ClinVar dbSNP |
| 9 | g.101428497T>G | CA466462964 | ALDOB | c.351A>C (p.Ala117=) n.67+1312A>C | |
| 9 | g.101428498G>A | CA374265558 | ALDOB | c.350C>T (p.Ala117Val) n.67+1311C>T | gnomAD v4 |
| 9 | g.101428498G>C | CA374265560 | ALDOB | c.350C>G (p.Ala117Gly) n.67+1311C>G | |
| 9 | g.101428498G>T | CA374265559 | ALDOB | c.350C>A (p.Ala117Glu) n.67+1311C>A | |
| 9 | g.101428499C>A | CA196957682 | ALDOB | c.349G>T (p.Ala117Ser) n.67+1310G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428499C= | CA1868280515 | ALDOB | c.349G= (p.Ala117=) n.67+1310G= | |
| 9 | g.101428499C>G | CA374265561 | ALDOB | c.349G>C (p.Ala117Pro) n.67+1310G>C | |
| 9 | g.101428499C>T | CA374265562 | ALDOB | c.349G>A (p.Ala117Thr) n.67+1310G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428500A= | CA1868280516 | ALDOB | c.348T= (p.Leu116=) n.67+1309T= | |
| 9 | g.101428500A>C | CA466462966 | ALDOB | c.348T>G (p.Leu116=) n.67+1309T>G | |
| 9 | g.101428500A>G | CA466462967 | ALDOB | c.348T>C (p.Leu116=) n.67+1309T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428500A>T | CA466462968 | ALDOB | c.348T>A (p.Leu116=) n.67+1309T>A | |
| 9 | g.101428501A>C | CA374265563 | ALDOB | c.347T>G (p.Leu116Arg) n.67+1308T>G | |
| 9 | g.101428501A>G | CA374265564 | ALDOB | c.347T>C (p.Leu116Pro) n.67+1308T>C | |
| 9 | g.101428501A>T | CA374265565 | ALDOB | c.347T>A (p.Leu116His) n.67+1308T>A | |
| 9 | g.101428502G>A | CA374265566 | ALDOB | c.346C>T (p.Leu116Phe) n.67+1307C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428502G>C | CA374265567 | ALDOB | c.346C>G (p.Leu116Val) n.67+1307C>G | |
| 9 | g.101428502G= | CA1868280517 | ALDOB | c.346C= (p.Leu116=) n.67+1307C= | |
| 9 | g.101428502G>T | CA374265568 | ALDOB | c.346C>A (p.Leu116Ile) n.67+1307C>A | |
| 9 | g.101428503A= | CA1868280518 | ALDOB | c.345T= (p.Pro115=) n.67+1306T= | |
| 9 | g.101428503A>C | CA466462969 | ALDOB | c.345T>G (p.Pro115=) n.67+1306T>G | |
| 9 | g.101428503A>G | CA466462970 | ALDOB | c.345T>C (p.Pro115=) n.67+1306T>C | gnomAD v4 |
| 9 | g.101428503A>T | CA466462971 | ALDOB | c.345T>A (p.Pro115=) n.67+1306T>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428504G>A | CA5161649 | ALDOB | c.344C>T (p.Pro115Leu) n.67+1305C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428504G>C | CA374265569 | ALDOB | c.344C>G (p.Pro115Arg) n.67+1305C>G | |
| 9 | g.101428504G= | CA1868280519 | ALDOB | c.344C= (p.Pro115=) n.67+1305C= | |
| 9 | g.101428504G>T | CA374265570 | ALDOB | c.344C>A (p.Pro115His) n.67+1305C>A | |
| 9 | g.101428505G>A | CA374265573 | ALDOB | c.343C>T (p.Pro115Ser) n.67+1304C>T | COSMIC |
| 9 | g.101428505G>C | CA374265572 | ALDOB | c.343C>G (p.Pro115Ala) n.67+1304C>G | |
| 9 | g.101428505G= | CA1868280520 | ALDOB | c.343C= (p.Pro115=) n.67+1304C= | |
| 9 | g.101428505G>T | CA374265571 | ALDOB | c.343C>A (p.Pro115Thr) n.67+1304C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428506A= | CA1868280521 | ALDOB | c.342T= (p.Ala114=) n.67+1303T= | |
| 9 | g.101428506A>C | CA466462972 | ALDOB | c.342T>G (p.Ala114=) n.67+1303T>G | |
| 9 | g.101428506A>G | CA466462973 | ALDOB | c.342T>C (p.Ala114=) n.67+1303T>C | dbSNP |
| 9 | g.101428506A>T | CA466462974 | ALDOB | c.342T>A (p.Ala114=) n.67+1303T>A | |
| 9 | g.101428507_101428509dup | CA2785326717 | ALDOB | c.340_342dup (p.Ala114_Pro115insAla) n.67+1301_67+1303dup | |
| 9 | g.101428507G>A | CA5161650 | ALDOB | c.341C>T (p.Ala114Val) n.67+1302C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428507G>C | CA374265574 | ALDOB | c.341C>G (p.Ala114Gly) n.67+1302C>G | |
| 9 | g.101428507G= | CA1868280522 | ALDOB | c.341C= (p.Ala114=) n.67+1302C= | |
| 9 | g.101428507G>T | CA374265575 | ALDOB | c.341C>A (p.Ala114Asp) n.67+1302C>A | |
| 9 | g.101428508C>A | CA374265576 | ALDOB | c.340G>T (p.Ala114Ser) n.67+1301G>T | |
| 9 | g.101428508C= | CA1868280523 | ALDOB | c.340G= (p.Ala114=) n.67+1301G= | |
| 9 | g.101428508C>G | CA374265577 | ALDOB | c.340G>C (p.Ala114Pro) n.67+1301G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428508C>T | CA374265578 | ALDOB | c.340G>A (p.Ala114Thr) n.67+1301G>A | |
| 9 | g.101428509A>C | CA466462975 | ALDOB | c.339T>G (p.Gly113=) n.67+1300T>G | |
| 9 | g.101428509A>G | CA466462976 | ALDOB | c.339T>C (p.Gly113=) n.67+1300T>C | |
| 9 | g.101428509A>T | CA466462977 | ALDOB | c.339T>A (p.Gly113=) n.67+1300T>A | |
| 9 | g.101428510C>A | CA374265579 | ALDOB | c.338G>T (p.Gly113Val) n.67+1299G>T | |
| 9 | g.101428510C>G | CA374265580 | ALDOB | c.338G>C (p.Gly113Ala) n.67+1299G>C | |
| 9 | g.101428510C>T | CA374265581 | ALDOB | c.338G>A (p.Gly113Asp) n.67+1299G>A | dbSNP gnomAD v4 |
| 9 | g.101428511C>A | CA374265582 | ALDOB | c.337G>T (p.Gly113Cys) n.67+1298G>T | COSMIC |
| 9 | g.101428511C= | CA1868280524 | ALDOB | c.337G= (p.Gly113=) n.67+1298G= | |
| 9 | g.101428511C>G | CA374265583 | ALDOB | c.337G>C (p.Gly113Arg) n.67+1298G>C | |
| 9 | g.101428511C>T | CA374265584 | ALDOB | c.337G>A (p.Gly113Ser) n.67+1298G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428512T>A | CA466462978 | ALDOB | c.336A>T (p.Gly112=) n.67+1297A>T | |
| 9 | g.101428512T>C | CA466462979 | ALDOB | c.336A>G (p.Gly112=) n.67+1297A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428512T>G | CA466462980 | ALDOB | c.336A>C (p.Gly112=) n.67+1297A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.101428512T= | CA1868280525 | ALDOB | c.336A= (p.Gly112=) n.67+1297A= | |
| 9 | g.101428513C>A | CA374265585 | ALDOB | c.335G>T (p.Gly112Val) n.67+1296G>T | |
| 9 | g.101428513C>G | CA374265587 | ALDOB | c.335G>C (p.Gly112Ala) n.67+1296G>C | |
| 9 | g.101428513C>T | CA374265586 | ALDOB | c.335G>A (p.Gly112Glu) n.67+1296G>A | gnomAD v4 |
| 9 | g.101428514C>A | CA374265588 | ALDOB | c.334G>T (p.Gly112Ter) n.67+1295G>T | |
| 9 | g.101428514C= | CA1868280526 | ALDOB | c.334G= (p.Gly112=) n.67+1295G= | |
| 9 | g.101428514C>G | CA374265589 | ALDOB | c.334G>C (p.Gly112Arg) n.67+1295G>C | |
| 9 | g.101428514C>T | CA5161651 | ALDOB | c.334G>A (p.Gly112Arg) n.67+1295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428515T>A | CA374265590 | ALDOB | c.333A>T (p.Gln111His) n.67+1294A>T | |
| 9 | g.101428515T>C | CA466462981 | ALDOB | c.333A>G (p.Gln111=) n.67+1294A>G | |
| 9 | g.101428515T>G | CA374265591 | ALDOB | c.333A>C (p.Gln111His) n.67+1294A>C | |
| 9 | g.101428516T>A | CA374265592 | ALDOB | c.332A>T (p.Gln111Leu) n.67+1293A>T | |
| 9 | g.101428516T>C | CA374265593 | ALDOB | c.332A>G (p.Gln111Arg) n.67+1293A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428516T>G | CA374265594 | ALDOB | c.332A>C (p.Gln111Pro) n.67+1293A>C | |
| 9 | g.101428516T= | CA1868280527 | ALDOB | c.332A= (p.Gln111=) n.67+1293A= | |
| 9 | g.101428517G>A | CA196957692 | ALDOB | c.331C>T (p.Gln111Ter) n.67+1292C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428517G>C | CA374265595 | ALDOB | c.331C>G (p.Gln111Glu) n.67+1292C>G | |
| 9 | g.101428517G= | CA1868280528 | ALDOB | c.331C= (p.Gln111=) n.67+1292C= | |
| 9 | g.101428517G>T | CA374265596 | ALDOB | c.331C>A (p.Gln111Lys) n.67+1292C>A | |
| 9 | g.101428518G>A | CA466462982 | ALDOB | c.330C>T (p.Asp110=) n.67+1291C>T | |
| 9 | g.101428518G>C | CA374265597 | ALDOB | c.330C>G (p.Asp110Glu) n.67+1291C>G | |
| 9 | g.101428518G>T | CA374265598 | ALDOB | c.330C>A (p.Asp110Glu) n.67+1291C>A | |
| 9 | g.101428519T>A | CA374265601 | ALDOB | c.329A>T (p.Asp110Val) n.67+1290A>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428519T>C | CA374265600 | ALDOB | c.329A>G (p.Asp110Gly) n.67+1290A>G | |
| 9 | g.101428519T>G | CA374265599 | ALDOB | c.329A>C (p.Asp110Ala) n.67+1290A>C | |
| 9 | g.101428519T= | CA1868280529 | ALDOB | c.329A= (p.Asp110=) n.67+1290A= | |
| 9 | g.101428520C>A | CA374265602 | ALDOB | c.328G>T (p.Asp110Tyr) n.67+1289G>T | |
| 9 | g.101428520C>G | CA374265603 | ALDOB | c.328G>C (p.Asp110His) n.67+1289G>C | |
| 9 | g.101428520C>T | CA374265604 | ALDOB | c.328G>A (p.Asp110Asn) n.67+1289G>A | COSMIC |
| 9 | g.101428521del | CA2691007699 | ALDOB | c.327del (p.Asp110ThrfsTer?) n.67+1288del | gnomAD v4 |
| 9 | g.101428521T>A | CA374265605 | ALDOB | c.327A>T (p.Leu109Phe) n.67+1288A>T | |
| 9 | g.101428521T>C | CA466462983 | ALDOB | c.327A>G (p.Leu109=) n.67+1288A>G | |
| 9 | g.101428521T>G | CA374265606 | ALDOB | c.327A>C (p.Leu109Phe) n.67+1288A>C | |
| 9 | g.101428522A= | CA1868280530 | ALDOB | c.326T= (p.Leu109=) n.67+1287T= | |
| 9 | g.101428522A>C | CA374265607 | ALDOB | c.326T>G (p.Leu109Ter) n.67+1287T>G | |
| 9 | g.101428522A>G | CA374265608 | ALDOB | c.326T>C (p.Leu109Ser) n.67+1287T>C | |
| 9 | g.101428522A>T | CA374265609 | ALDOB | c.326T>A (p.Leu109Ter) n.67+1287T>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428523A>C | CA374265610 | ALDOB | c.325T>G (p.Leu109Val) n.67+1286T>G | |
| 9 | g.101428523A>G | CA466462984 | ALDOB | c.325T>C (p.Leu109=) n.67+1286T>C | |
| 9 | g.101428523A>T | CA374265611 | ALDOB | c.325T>A (p.Leu109Ile) n.67+1286T>A | |
| 9 | g.101428524C>A | CA374265612 | ALDOB | c.325-1G>T (n.325-1G>T) n.67+1285G>T | ClinVar dbSNP |
| 9 | g.101428524C= | CA1868280531 | ALDOB | c.325-1G= (n.325-1G=) n.67+1285G= | |
| 9 | g.101428524C>G | CA374265613 | ALDOB | c.325-1G>C (n.325-1G>C) n.67+1285G>C | ClinVar dbSNP |
| 9 | g.101428524C>T | CA374265614 | ALDOB | c.325-1G>A (n.325-1G>A) n.67+1285G>A | ClinVar dbSNP |
| 9 | g.101428524_101428525del | CA2579403715 | ALDOB | c.325-2_325-1del (n.325-2_325-1del) n.67+1284_67+1285del | |
| 9 | g.101428525T>A | CA374265616 | ALDOB | c.325-2A>T (n.325-2A>T) n.67+1284A>T | |
| 9 | g.101428525T>C | CA374265617 | ALDOB | c.325-2A>G (n.325-2A>G) n.67+1284A>G | gnomAD v4 |
| 9 | g.101428525T>G | CA374265615 | ALDOB | c.325-2A>C (n.325-2A>C) n.67+1284A>C | |
| 9 | g.101428526G>A | CA5161652 | ALDOB | c.325-3C>T (n.325-3C>T) n.67+1283C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428526G= | CA1868280532 | ALDOB | c.325-3C= (n.325-3C=) n.67+1283C= | |
| 9 | g.101428527T>G | CA5161653 | ALDOB | c.325-4A>C (n.325-4A>C) n.67+1282A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428527T= | CA1868280533 | ALDOB | c.325-4A= (n.325-4A=) n.67+1282A= | |
| 9 | g.101428530A>G | CA2579403716 | ALDOB | c.325-7T>C (n.325-7T>C) n.67+1279T>C | |
| 9 | g.101428531T>C | CA2691007700 | ALDOB | c.325-8A>G (n.325-8A>G) n.67+1278A>G | gnomAD v4 |
| 9 | g.101428532A>G | CA2697557934 | ALDOB | c.325-9T>C (n.325-9T>C) n.67+1277T>C | ClinVar |
| 9 | g.101428532A>T | CA2691007701 | ALDOB | c.325-9T>A (n.325-9T>A) n.67+1277T>A | gnomAD v4 |
| 9 | g.101428533C>T | CA2691007702 | ALDOB | c.325-10G>A (n.325-10G>A) n.67+1276G>A | gnomAD v4 |
| 9 | g.101428534A>T | CA2691007703 | ALDOB | c.325-11T>A (n.325-11T>A) n.67+1275T>A | gnomAD v4 |
| 9 | g.101428535A>T | CA2691007704 | ALDOB | c.325-12T>A (n.325-12T>A) n.67+1274T>A | gnomAD v4 |
| 9 | g.101428536A>G | CA2691007705 | ALDOB | c.325-13T>C (n.325-13T>C) n.67+1273T>C | gnomAD v4 |
| 9 | g.101428537T>A | CA5161654 | ALDOB | c.325-14A>T (n.325-14A>T) n.67+1272A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428537T>C | CA2691007706 | ALDOB | c.325-14A>G (n.325-14A>G) n.67+1272A>G | gnomAD v4 |
| 9 | g.101428537T= | CA1868280534 | ALDOB | c.325-14A= (n.325-14A=) n.67+1272A= | |
| 9 | g.101428538A= | CA1868280535 | ALDOB | c.325-15T= (n.325-15T=) n.67+1271T= | |
| 9 | g.101428538A>G | CA589815689 | ALDOB | c.325-15T>C (n.325-15T>C) n.67+1271T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428539A>G | CA2572481496 | ALDOB | c.325-16T>C (n.325-16T>C) n.67+1270T>C | |
| 9 | g.101428541T>G | CA589815690 | ALDOB | c.325-18A>C (n.325-18A>C) n.67+1268A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428541T= | CA1868280536 | ALDOB | c.325-18A= (n.325-18A=) n.67+1268A= | |
| 9 | g.101428542A= | CA1868280537 | ALDOB | c.325-19T= (n.325-19T=) n.67+1267T= | |
| 9 | g.101428542A>C | CA5161655 | ALDOB | c.325-19T>G (n.325-19T>G) n.67+1267T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428544C= | CA1868280538 | ALDOB | c.325-21G= (n.325-21G=) n.67+1265G= | |
| 9 | g.101428544C>T | CA589815691 | ALDOB | c.325-21G>A (n.325-21G>A) n.67+1265G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428545A>G | CA2691007707 | ALDOB | c.325-22T>C (n.325-22T>C) n.67+1264T>C | gnomAD v4 |
| 9 | g.101428545_101428546insAACAATCTTATCGGCCGTTTTACCATAAAAAATTCAACAAATCTCCCTATCACATTGTGAAGAAAGTGTGCAGTTCGCGTGCAAGCGCCTCT | CA2571855180 | ALDOB | c.325-23_325-22insAGAGGCGCTTGCACGCGAACTGCACACTTTCTTCACAATGTGATAGGGAGATTTGTTGAATTTTTTATGGTAAAACGGCCGATAAGATTGTT (n.325-23_325-22insAGAGGCGCTTGCACGCGAACTGCACACTTTCTTCACAATGTGATAGGGAGATTTGTTGAATTTTTTATGGTAAAACGGCCGATAAGATTGTT) n.67+1263_67+1264insAGAGGCGCTTGCACGCGAACTGCACACTTTCTTCACAATGTGATAGGGAGATTTGTTGAATTTTTTATGGTAAAACGGCCGATAAGATTGTT | |
| 9 | g.101428546G>T | CA2691007708 | ALDOB | c.325-23C>A (n.325-23C>A) n.67+1263C>A | gnomAD v4 |
| 9 | g.101428547G>A | CA5161656 | ALDOB | c.325-24C>T (n.325-24C>T) n.67+1262C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428547G>C | CA5161657 | ALDOB | c.325-24C>G (n.325-24C>G) n.67+1262C>G | dbSNP ExAC gnomAD v4 |
| 9 | g.101428547G= | CA1868280539 | ALDOB | c.325-24C= (n.325-24C=) n.67+1262C= | |
| 9 | g.101428547G>T | CA1127397930 | ALDOB | c.325-24C>A (n.325-24C>A) n.67+1262C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428549_101428550del | CA2579403717 | ALDOB | c.325-25_325-24del (n.325-25_325-24del) n.67+1261_67+1262del | |
| 9 | g.101428548_101428549insTGCTCCTCGGGAATAAAATGCCCGCTGTTGGC | CA2572718878 | ALDOB | c.325-26_325-25insGCCAACAGCGGGCATTTTATTCCCGAGGAGCA (n.325-26_325-25insGCCAACAGCGGGCATTTTATTCCCGAGGAGCA) n.67+1260_67+1261insGCCAACAGCGGGCATTTTATTCCCGAGGAGCA | |
| 9 | g.101428549G>A | CA5161658 | ALDOB | c.325-26C>T (n.325-26C>T) n.67+1260C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428549G= | CA1868280540 | ALDOB | c.325-26C= (n.325-26C=) n.67+1260C= | |
| 9 | g.101428549G>T | CA2691007709 | ALDOB | c.325-26C>A (n.325-26C>A) n.67+1260C>A | gnomAD v4 |
| 9 | g.101428550T>C | CA2720259649 | ALDOB | c.325-27A>G (n.325-27A>G) n.67+1259A>G | dbSNP |
| 9 | g.101428552A= | CA1868280541 | ALDOB | c.325-29T= (n.325-29T=) n.67+1257T= | |
| 9 | g.101428552A>C | CA2691007710 | ALDOB | c.325-29T>G (n.325-29T>G) n.67+1257T>G | gnomAD v4 |
| 9 | g.101428552A>G | CA5161659 | ALDOB | c.325-29T>C (n.325-29T>C) n.67+1257T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428553G>C | CA1127397939 | ALDOB | c.325-30C>G (n.325-30C>G) n.67+1256C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428553G= | CA1868280542 | ALDOB | c.325-30C= (n.325-30C=) n.67+1256C= | |
| 9 | g.101428553G>T | CA2579403718 | ALDOB | c.325-30C>A (n.325-30C>A) n.67+1256C>A | gnomAD v4 |
| 9 | g.101428554A= | CA1868280543 | ALDOB | c.325-31T= (n.325-31T=) n.67+1255T= | |
| 9 | g.101428554A>C | CA5161660 | ALDOB | c.325-31T>G (n.325-31T>G) n.67+1255T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428554A>G | CA589815692 | ALDOB | c.325-31T>C (n.325-31T>C) n.67+1255T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428555T>A | CA1868280545 | ALDOB | c.325-32A>T (n.325-32A>T) n.67+1254A>T | dbSNP |
| 9 | g.101428555T>C | CA466462985 | ALDOB | c.325-32A>G (n.325-32A>G) n.67+1254A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428555T= | CA1868280544 | ALDOB | c.325-32A= (n.325-32A=) n.67+1254A= | |
| 9 | g.101428556G>A | CA5161661 | ALDOB | c.325-33C>T (n.325-33C>T) n.67+1253C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428556G= | CA1868280546 | ALDOB | c.325-33C= (n.325-33C=) n.67+1253C= | |
| 9 | g.101428556G>T | CA653204486 | ALDOB | c.325-33C>A (n.325-33C>A) n.67+1253C>A | gnomAD v4 COSMIC |
| 9 | g.101428558del | CA2579403719 | ALDOB | c.325-35del (n.325-35del) n.67+1251del | |
| 9 | g.101428558C= | CA1868280547 | ALDOB | c.325-35G= (n.325-35G=) n.67+1251G= | |
| 9 | g.101428558C>G | CA2691007711 | ALDOB | c.325-35G>C (n.325-35G>C) n.67+1251G>C | gnomAD v4 |
| 9 | g.101428558C>T | CA5161662 | ALDOB | c.325-35G>A (n.325-35G>A) n.67+1251G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428559A= | CA1868280548 | ALDOB | c.325-36T= (n.325-36T=) n.67+1250T= | |
| 9 | g.101428559A>G | CA5161663 | ALDOB | c.325-36T>C (n.325-36T>C) n.67+1250T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428560G>A | CA5161664 | ALDOB | c.325-37C>T (n.325-37C>T) n.67+1249C>T | dbSNP ExAC gnomAD v2 |
| 9 | g.101428560G= | CA1868280549 | ALDOB | c.325-37C= (n.325-37C=) n.67+1249C= | |
| 9 | g.101428561G>A | CA2691007712 | ALDOB | c.325-38C>T (n.325-38C>T) n.67+1248C>T | gnomAD v4 |
| 9 | g.101428561G>T | CA2691007713 | ALDOB | c.325-38C>A (n.325-38C>A) n.67+1248C>A | gnomAD v4 |
| 9 | g.101428562A>G | CA2691007714 | ALDOB | c.325-39T>C (n.325-39T>C) n.67+1247T>C | gnomAD v4 |
| 9 | g.101428563A>G | CA2691007715 | ALDOB | c.325-40T>C (n.325-40T>C) n.67+1246T>C | gnomAD v4 |
| 9 | g.101428564A>T | CA2720259946 | ALDOB | c.325-41T>A (n.325-41T>A) n.67+1245T>A | dbSNP |
| 9 | g.101428566C= | CA1868280550 | ALDOB | c.325-43G= (n.325-43G=) n.67+1243G= | |
| 9 | g.101428566C>G | CA1868280551 | ALDOB | c.325-43G>C (n.325-43G>C) n.67+1243G>C | dbSNP |
| 9 | g.101428566C>T | CA2691007716 | ALDOB | c.325-43G>A (n.325-43G>A) n.67+1243G>A | gnomAD v4 |
| 9 | g.101428568C>A | CA2691007717 | ALDOB | c.325-45G>T (n.325-45G>T) n.67+1241G>T | gnomAD v4 |
| 9 | g.101428568C= | CA1868280552 | ALDOB | c.325-45G= (n.325-45G=) n.67+1241G= | |
| 9 | g.101428568C>T | CA5161665 | ALDOB | c.325-45G>A (n.325-45G>A) n.67+1241G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428569_101428570insCCAAACACACCC | CA2785326718 | ALDOB | c.325-47_325-46insGGGTGTGTTTGG (n.325-47_325-46insGGGTGTGTTTGG) n.67+1239_67+1240insGGGTGTGTTTGG | |
| 9 | g.101428571G>A | CA196957710 | ALDOB | c.325-48C>T (n.325-48C>T) n.67+1238C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428571G= | CA1868280553 | ALDOB | c.325-48C= (n.325-48C=) n.67+1238C= | |
| 9 | g.101428571G>T | CA2691007718 | ALDOB | c.325-48C>A (n.325-48C>A) n.67+1238C>A | gnomAD v4 |
| 9 | g.101428572C>A | CA1127397947 | ALDOB | c.325-49G>T (n.325-49G>T) n.67+1237G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428572C= | CA1868280554 | ALDOB | c.325-49G= (n.325-49G=) n.67+1237G= | |
| 9 | g.101428572C>G | CA2579403720 | ALDOB | c.325-49G>C (n.325-49G>C) n.67+1237G>C | gnomAD v4 |
| 9 | g.101428572C>T | CA2691007719 | ALDOB | c.325-49G>A (n.325-49G>A) n.67+1237G>A | gnomAD v4 |
| 9 | g.101428573A= | CA1868280555 | ALDOB | c.325-50T= (n.325-50T=) n.67+1236T= | |
| 9 | g.101428573A>G | CA857733834 | ALDOB | c.325-50T>C (n.325-50T>C) n.67+1236T>C | dbSNP |
| 9 | g.101428574G>C | CA2785326719 | ALDOB | c.325-51C>G (n.325-51C>G) n.67+1235C>G | |
| 9 | g.101428579_101428586del | CA2579403721 | ALDOB | c.325-58_325-51del (n.325-58_325-51del) n.67+1228_67+1235del | |
| 9 | g.101428575A= | CA1868280556 | ALDOB | c.325-52T= (n.325-52T=) n.67+1234T= | |
| 9 | g.101428575A>G | CA857733835 | ALDOB | c.325-52T>C (n.325-52T>C) n.67+1234T>C | dbSNP gnomAD v4 |
| 9 | g.101428576_101428578delinsACT | CA1868280557 | ALDOB | c.325-55_325-53delinsAGT (n.325-55_325-53delinsAGT) n.67+1231_67+1233delinsAGT | |
| 9 | g.101428577C>T | CA2691007721 | ALDOB | c.325-54G>A (n.325-54G>A) n.67+1232G>A | gnomAD v4 |
| 9 | g.101428579_101428580del | CA196957712 | ALDOB | c.325-55_325-54del (n.325-55_325-54del) n.67+1231_67+1232del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428579C>A | CA2523744065 | ALDOB | c.325-56G>T (n.325-56G>T) n.67+1230G>T | gnomAD v4 |
| 9 | g.101428579C>G | CA2579403722 | ALDOB | c.325-56G>C (n.325-56G>C) n.67+1230G>C |