| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101427597C>A | CA374265385 | ALDOB | c.425G>T (p.Gly142Val) n.68-959G>T | |
| 9 | g.101427597C>G | CA374265386 | ALDOB | c.425G>C (p.Gly142Ala) n.68-959G>C | |
| 9 | g.101427597C>T | CA374265387 | ALDOB | c.425G>A (p.Gly142Asp) n.68-959G>A | |
| 9 | g.101427598C>A | CA374265388 | ALDOB | c.424G>T (p.Gly142Cys) n.68-960G>T | |
| 9 | g.101427598C>G | CA374265389 | ALDOB | c.424G>C (p.Gly142Arg) n.68-960G>C | |
| 9 | g.101427598C>T | CA374265390 | ALDOB | c.424G>A (p.Gly142Ser) n.68-960G>A | |
| 9 | g.101427599A>C | CA374265392 | ALDOB | c.423T>G (p.Asp141Glu) n.68-961T>G | |
| 9 | g.101427599A>G | CA466462920 | ALDOB | c.423T>C (p.Asp141=) n.68-961T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.101427599A>T | CA374265391 | ALDOB | c.423T>A (p.Asp141Glu) n.68-961T>A | |
| 9 | g.101427600T>A | CA374265393 | ALDOB | c.422A>T (p.Asp141Val) n.68-962A>T | |
| 9 | g.101427600T>C | CA374265394 | ALDOB | c.422A>G (p.Asp141Gly) n.68-962A>G | |
| 9 | g.101427600T>G | CA374265395 | ALDOB | c.422A>C (p.Asp141Ala) n.68-962A>C | |
| 9 | g.101427601C>A | CA374265396 | ALDOB | c.421G>T (p.Asp141Tyr) n.68-963G>T | |
| 9 | g.101427601C>G | CA374265397 | ALDOB | c.421G>C (p.Asp141His) n.68-963G>C | |
| 9 | g.101427601C>T | CA374265398 | ALDOB | c.421G>A (p.Asp141Asn) n.68-963G>A | gnomAD v4 |
| 9 | g.101427601_101427602delinsCT | CA1868280117 | ALDOB | c.420_421delinsAG (p.Lys140=) n.68-964_68-963delinsAG | |
| 9 | g.101427602T>A | CA374265399 | ALDOB | c.420A>T (p.Lys140Asn) n.68-964A>T | ClinVar |
| 9 | g.101427602T>C | CA466462921 | ALDOB | c.420A>G (p.Lys140=) n.68-964A>G | |
| 9 | g.101427602T>G | CA374265400 | ALDOB | c.420A>C (p.Lys140Asn) n.68-964A>C | |
| 9 | g.101427604del | CA16041286 | ALDOB | c.420del (p.Asp141MetfsTer12) n.68-964del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427603T>A | CA374265401 | ALDOB | c.419A>T (p.Lys140Ile) n.68-965A>T | |
| 9 | g.101427603T>C | CA374265402 | ALDOB | c.419A>G (p.Lys140Arg) n.68-965A>G | |
| 9 | g.101427603T>G | CA374265403 | ALDOB | c.419A>C (p.Lys140Thr) n.68-965A>C | |
| 9 | g.101427604T>A | CA374265404 | ALDOB | c.418A>T (p.Lys140Ter) n.68-966A>T | |
| 9 | g.101427604T>C | CA374265405 | ALDOB | c.418A>G (p.Lys140Glu) n.68-966A>G | |
| 9 | g.101427604T>G | CA374265406 | ALDOB | c.418A>C (p.Lys140Gln) n.68-966A>C | |
| 9 | g.101427605C>A | CA374265407 | ALDOB | c.417G>T (p.Lys139Asn) n.68-967G>T | COSMIC |
| 9 | g.101427605C>G | CA374265408 | ALDOB | c.417G>C (p.Lys139Asn) n.68-967G>C | |
| 9 | g.101427605C>T | CA466462922 | ALDOB | c.417G>A (p.Lys139=) n.68-967G>A | |
| 9 | g.101427606T>A | CA374265409 | ALDOB | c.416A>T (p.Lys139Met) n.68-968A>T | |
| 9 | g.101427606T>C | CA374265410 | ALDOB | c.416A>G (p.Lys139Arg) n.68-968A>G | |
| 9 | g.101427606T>G | CA374265411 | ALDOB | c.416A>C (p.Lys139Thr) n.68-968A>C | |
| 9 | g.101427607T>A | CA374265412 | ALDOB | c.415A>T (p.Lys139Ter) n.68-969A>T | |
| 9 | g.101427607T>C | CA5161607 | ALDOB | c.415A>G (p.Lys139Glu) n.68-969A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427607T>G | CA374265413 | ALDOB | c.415A>C (p.Lys139Gln) n.68-969A>C | gnomAD v4 |
| 9 | g.101427607T= | CA1868280118 | ALDOB | c.415A= (p.Lys139=) n.68-969A= | |
| 9 | g.101427608del | CA2691007537 | ALDOB | c.414del (p.Tyr138Ter) n.68-970del | gnomAD v4 |
| 9 | g.101427608G>A | CA466462923 | ALDOB | c.414C>T (p.Tyr138=) n.68-970C>T | |
| 9 | g.101427608G>C | CA374265414 | ALDOB | c.414C>G (p.Tyr138Ter) n.68-970C>G | |
| 9 | g.101427608G>T | CA374265415 | ALDOB | c.414C>A (p.Tyr138Ter) n.68-970C>A | ClinVar |
| 9 | g.101427609T>A | CA374265416 | ALDOB | c.413A>T (p.Tyr138Phe) n.68-971A>T | |
| 9 | g.101427609T>C | CA5161608 | ALDOB | c.413A>G (p.Tyr138Cys) n.68-971A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427609T>G | CA374265417 | ALDOB | c.413A>C (p.Tyr138Ser) n.68-971A>C | |
| 9 | g.101427609T= | CA1868280119 | ALDOB | c.413A= (p.Tyr138=) n.68-971A= | |
| 9 | g.101427610A= | CA1868280120 | ALDOB | c.412T= (p.Tyr138=) n.68-972T= | |
| 9 | g.101427610A>C | CA374265418 | ALDOB | c.412T>G (p.Tyr138Asp) n.68-972T>G | |
| 9 | g.101427610A>G | CA374265419 | ALDOB | c.412T>C (p.Tyr138His) n.68-972T>C | dbSNP |
| 9 | g.101427610A>T | CA374265420 | ALDOB | c.412T>A (p.Tyr138Asn) n.68-972T>A | |
| 9 | g.101427611C>A | CA374265421 | ALDOB | c.411G>T (p.Gln137His) n.68-973G>T | |
| 9 | g.101427611C>G | CA374265422 | ALDOB | c.411G>C (p.Gln137His) n.68-973G>C | |
| 9 | g.101427611C>T | CA466462924 | ALDOB | c.411G>A (p.Gln137=) n.68-973G>A | |
| 9 | g.101427612T>A | CA374265423 | ALDOB | c.410A>T (p.Gln137Leu) n.68-974A>T | |
| 9 | g.101427612T>C | CA5161609 | ALDOB | c.410A>G (p.Gln137Arg) n.68-974A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427612T>G | CA374265424 | ALDOB | c.410A>C (p.Gln137Pro) n.68-974A>C | |
| 9 | g.101427612T= | CA1868280121 | ALDOB | c.410A= (p.Gln137=) n.68-974A= | |
| 9 | g.101427613G>A | CA374265427 | ALDOB | c.409C>T (p.Gln137Ter) n.68-975C>T | |
| 9 | g.101427613G>C | CA374265426 | ALDOB | c.409C>G (p.Gln137Glu) n.68-975C>G | |
| 9 | g.101427613G>T | CA374265425 | ALDOB | c.409C>A (p.Gln137Lys) n.68-975C>A | |
| 9 | g.101427614A>C | CA466462927 | ALDOB | c.408T>G (p.Ala136=) n.68-976T>G | |
| 9 | g.101427614A>G | CA466462925 | ALDOB | c.408T>C (p.Ala136=) n.68-976T>C | |
| 9 | g.101427614A>T | CA466462926 | ALDOB | c.408T>A (p.Ala136=) n.68-976T>A | |
| 9 | g.101427615G>A | CA374265428 | ALDOB | c.407C>T (p.Ala136Val) n.68-977C>T | dbSNP gnomAD v4 |
| 9 | g.101427615G>C | CA5161610 | ALDOB | c.407C>G (p.Ala136Gly) n.68-977C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427615G= | CA1868280122 | ALDOB | c.407C= (p.Ala136=) n.68-977C= | |
| 9 | g.101427615G>T | CA374265429 | ALDOB | c.407C>A (p.Ala136Asp) n.68-977C>A | |
| 9 | g.101427616C>A | CA374265430 | ALDOB | c.406G>T (p.Ala136Ser) n.68-978G>T | |
| 9 | g.101427616C= | CA1868280123 | ALDOB | c.406G= (p.Ala136=) n.68-978G= | |
| 9 | g.101427616C>G | CA374265431 | ALDOB | c.406G>C (p.Ala136Pro) n.68-978G>C | |
| 9 | g.101427616C>T | CA374265432 | ALDOB | c.406G>A (p.Ala136Thr) n.68-978G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427617A>C | CA374265433 | ALDOB | c.405T>G (p.Cys135Trp) n.68-979T>G | |
| 9 | g.101427617A>G | CA466462928 | ALDOB | c.405T>C (p.Cys135=) n.68-979T>C | |
| 9 | g.101427617A>T | CA374265434 | ALDOB | c.405T>A (p.Cys135Ter) n.68-979T>A | |
| 9 | g.101427618C>A | CA374265435 | ALDOB | c.404G>T (p.Cys135Phe) n.68-980G>T | |
| 9 | g.101427618C= | CA1868280124 | ALDOB | c.404G= (p.Cys135=) n.68-980G= | |
| 9 | g.101427618C>G | CA374265436 | ALDOB | c.404G>C (p.Cys135Ser) n.68-980G>C | gnomAD v4 |
| 9 | g.101427618C>T | CA374265437 | ALDOB | c.404G>A (p.Cys135Tyr) n.68-980G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427619A>C | CA374265438 | ALDOB | c.403T>G (p.Cys135Gly) n.68-981T>G | |
| 9 | g.101427619A>G | CA374265439 | ALDOB | c.403T>C (p.Cys135Arg) n.68-981T>C | ClinVar dbSNP |
| 9 | g.101427619A>T | CA374265440 | ALDOB | c.403T>A (p.Cys135Ser) n.68-981T>A | |
| 9 | g.101427620G>A | CA466462929 | ALDOB | c.402C>T (p.Arg134=) n.68-982C>T | ClinVar |
| 9 | g.101427620G>C | CA466462930 | ALDOB | c.402C>G (p.Arg134=) n.68-982C>G | |
| 9 | g.101427620G>T | CA466462931 | ALDOB | c.402C>A (p.Arg134=) n.68-982C>A | |
| 9 | g.101427621C>A | CA5161611 | ALDOB | c.401G>T (p.Arg134Leu) n.68-983G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427621C= | CA1868280125 | ALDOB | c.401G= (p.Arg134=) n.68-983G= | |
| 9 | g.101427621C>G | CA374265441 | ALDOB | c.401G>C (p.Arg134Pro) n.68-983G>C | |
| 9 | g.101427621C>T | CA5161612 | ALDOB | c.401G>A (p.Arg134His) n.68-983G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427622G>A | CA5161614 | ALDOB | c.400C>T (p.Arg134Cys) n.68-984C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427622G>C | CA374265442 | ALDOB | c.400C>G (p.Arg134Gly) n.68-984C>G | |
| 9 | g.101427622G= | CA1868280126 | ALDOB | c.400C= (p.Arg134=) n.68-984C= | |
| 9 | g.101427622G>T | CA5161613 | ALDOB | c.400C>A (p.Arg134Ser) n.68-984C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427623C>A | CA374265443 | ALDOB | c.399G>T (p.Glu133Asp) n.68-985G>T | |
| 9 | g.101427623C= | CA1868280127 | ALDOB | c.399G= (p.Glu133=) n.68-985G= | |
| 9 | g.101427623C>G | CA374265444 | ALDOB | c.399G>C (p.Glu133Asp) n.68-985G>C | |
| 9 | g.101427623C>T | CA466462932 | ALDOB | c.399G>A (p.Glu133=) n.68-985G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427624T>A | CA374265445 | ALDOB | c.398A>T (p.Glu133Val) n.68-986A>T | |
| 9 | g.101427624T>C | CA374265446 | ALDOB | c.398A>G (p.Glu133Gly) n.68-986A>G | |
| 9 | g.101427624T>G | CA374265447 | ALDOB | c.398A>C (p.Glu133Ala) n.68-986A>C | |
| 9 | g.101427625del | CA2691007538 | ALDOB | c.397del (p.Glu133SerfsTer20) n.68-987del | gnomAD v4 |
| 9 | g.101427625C>A | CA374265448 | ALDOB | c.397G>T (p.Glu133Ter) n.68-987G>T | |
| 9 | g.101427625C>G | CA374265449 | ALDOB | c.397G>C (p.Glu133Gln) n.68-987G>C | |
| 9 | g.101427625C>T | CA374265450 | ALDOB | c.397G>A (p.Glu133Lys) n.68-987G>A | |
| 9 | g.101427626T>A | CA466462933 | ALDOB | c.396A>T (p.Ser132=) n.68-988A>T | |
| 9 | g.101427626T>C | CA5161615 | ALDOB | c.396A>G (p.Ser132=) n.68-988A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427626T>G | CA466462934 | ALDOB | c.396A>C (p.Ser132=) n.68-988A>C | |
| 9 | g.101427626T= | CA1868280128 | ALDOB | c.396A= (p.Ser132=) n.68-988A= | |
| 9 | g.101427627G>A | CA374265453 | ALDOB | c.395C>T (p.Ser132Leu) n.68-989C>T | COSMIC |
| 9 | g.101427627G>C | CA374265452 | ALDOB | c.395C>G (p.Ser132Ter) n.68-989C>G | COSMIC |
| 9 | g.101427627G>T | CA374265451 | ALDOB | c.395C>A (p.Ser132Ter) n.68-989C>A | |
| 9 | g.101427627_101427628insT | CA2691007539 | ALDOB | c.394_395insA (p.Ser132TyrfsTer13) n.68-990_68-989insA | gnomAD v4 |
| 9 | g.101427628A>C | CA374265454 | ALDOB | c.394T>G (p.Ser132Ala) n.68-990T>G | |
| 9 | g.101427628A>G | CA374265455 | ALDOB | c.394T>C (p.Ser132Pro) n.68-990T>C | |
| 9 | g.101427628A>T | CA374265456 | ALDOB | c.394T>A (p.Ser132Thr) n.68-990T>A | |
| 9 | g.101427629G>A | CA466462937 | ALDOB | c.393C>T (p.Leu131=) n.68-991C>T | COSMIC |
| 9 | g.101427629G>C | CA466462935 | ALDOB | c.393C>G (p.Leu131=) n.68-991C>G | gnomAD v4 |
| 9 | g.101427629G>T | CA466462936 | ALDOB | c.393C>A (p.Leu131=) n.68-991C>A | |
| 9 | g.101427630A>C | CA374265457 | ALDOB | c.392T>G (p.Leu131Arg) n.68-992T>G | |
| 9 | g.101427630A>G | CA374265458 | ALDOB | c.392T>C (p.Leu131Pro) n.68-992T>C | |
| 9 | g.101427630A>T | CA374265459 | ALDOB | c.392T>A (p.Leu131His) n.68-992T>A | |
| 9 | g.101427631G>A | CA374265460 | ALDOB | c.391C>T (p.Leu131Phe) n.68-993C>T | |
| 9 | g.101427631G>C | CA374265461 | ALDOB | c.391C>G (p.Leu131Val) n.68-993C>G | gnomAD v4 |
| 9 | g.101427631G>T | CA374265462 | ALDOB | c.391C>A (p.Leu131Ile) n.68-993C>A | |
| 9 | g.101427632G>A | CA466462938 | ALDOB | c.390C>T (p.Gly130=) n.68-994C>T | |
| 9 | g.101427632G>C | CA466462939 | ALDOB | c.390C>G (p.Gly130=) n.68-994C>G | |
| 9 | g.101427632G>T | CA466462940 | ALDOB | c.390C>A (p.Gly130=) n.68-994C>A | |
| 9 | g.101427632_101427633delinsGC | CA1868280129 | ALDOB | c.389_390delinsGC (p.Gly130=) n.68-995_68-994delinsGC | |
| 9 | g.101427633C>A | CA374265463 | ALDOB | c.389G>T (p.Gly130Val) n.68-995G>T | |
| 9 | g.101427633C= | CA1868280130 | ALDOB | c.389G= (p.Gly130=) n.68-995G= | |
| 9 | g.101427633C>G | CA196957422 | ALDOB | c.389G>C (p.Gly130Ala) n.68-995G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427633C>T | CA374265464 | ALDOB | c.389G>A (p.Gly130Asp) n.68-995G>A | |
| 9 | g.101427634del | CA590045546 | ALDOB | c.389del (p.Gly130AlafsTer23) n.68-995del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427634C>A | CA374265465 | ALDOB | c.388G>T (p.Gly130Cys) n.68-996G>T | |
| 9 | g.101427634C>G | CA374265467 | ALDOB | c.388G>C (p.Gly130Arg) n.68-996G>C | |
| 9 | g.101427634C>T | CA374265466 | ALDOB | c.388G>A (p.Gly130Ser) n.68-996G>A | gnomAD v4 COSMIC |
| 9 | g.101427635A>C | CA374265468 | ALDOB | c.387T>G (p.Asp129Glu) n.68-997T>G | |
| 9 | g.101427635A>G | CA466462941 | ALDOB | c.387T>C (p.Asp129=) n.68-997T>C | |
| 9 | g.101427635A>T | CA374265469 | ALDOB | c.387T>A (p.Asp129Glu) n.68-997T>A | |
| 9 | g.101427635dup | CA2527005457 | ALDOB | c.387dup (p.Gly130TrpfsTer15) n.68-997dup | |
| 9 | g.101427636T>A | CA374265470 | ALDOB | c.386A>T (p.Asp129Val) n.68-998A>T | |
| 9 | g.101427636T>C | CA374265472 | ALDOB | c.386A>G (p.Asp129Gly) n.68-998A>G | gnomAD v4 |
| 9 | g.101427636T>G | CA374265471 | ALDOB | c.386A>C (p.Asp129Ala) n.68-998A>C | |
| 9 | g.101427637C>A | CA374265473 | ALDOB | c.385G>T (p.Asp129Tyr) n.68-999G>T | |
| 9 | g.101427637C>G | CA374265474 | ALDOB | c.385G>C (p.Asp129His) n.68-999G>C | |
| 9 | g.101427637C>T | CA374265475 | ALDOB | c.385G>A (p.Asp129Asn) n.68-999G>A | |
| 9 | g.101427638A= | CA1868280131 | ALDOB | c.384T= (p.Leu128=) n.68-1000T= | |
| 9 | g.101427638A>C | CA466462942 | ALDOB | c.384T>G (p.Leu128=) n.68-1000T>G | |
| 9 | g.101427638A>G | CA466462943 | ALDOB | c.384T>C (p.Leu128=) n.68-1000T>C | dbSNP |
| 9 | g.101427638A>T | CA466462944 | ALDOB | c.384T>A (p.Leu128=) n.68-1000T>A | |
| 9 | g.101427639A>C | CA374265476 | ALDOB | c.383T>G (p.Leu128Arg) n.68-1001T>G | |
| 9 | g.101427639A>G | CA374265477 | ALDOB | c.383T>C (p.Leu128Pro) n.68-1001T>C | |
| 9 | g.101427639A>T | CA374265478 | ALDOB | c.383T>A (p.Leu128His) n.68-1001T>A | COSMIC |
| 9 | g.101427640G>A | CA374265479 | ALDOB | c.382C>T (p.Leu128Phe) n.68-1002C>T | COSMIC |
| 9 | g.101427640G>C | CA374265480 | ALDOB | c.382C>G (p.Leu128Val) n.68-1002C>G | |
| 9 | g.101427640G>T | CA374265481 | ALDOB | c.382C>A (p.Leu128Ile) n.68-1002C>A | |
| 9 | g.101427641C>A | CA466462945 | ALDOB | c.381G>T (p.Gly127=) n.68-1003G>T | |
| 9 | g.101427641C= | CA1868280132 | ALDOB | c.381G= (p.Gly127=) n.68-1003G= | |
| 9 | g.101427641C>G | CA5161616 | ALDOB | c.381G>C (p.Gly127=) n.68-1003G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427641C>T | CA5161617 | ALDOB | c.381G>A (p.Gly127=) n.68-1003G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427642C>A | CA374265484 | ALDOB | c.380G>T (p.Gly127Val) n.68-1004G>T | |
| 9 | g.101427642C>G | CA374265483 | ALDOB | c.380G>C (p.Gly127Ala) n.68-1004G>C | |
| 9 | g.101427642C>T | CA374265482 | ALDOB | c.380G>A (p.Gly127Glu) n.68-1004G>A | |
| 9 | g.101427643C>A | CA374265485 | ALDOB | c.380-1G>T (n.380-1G>T) n.68-1005G>T | |
| 9 | g.101427643C= | CA1868280133 | ALDOB | c.380-1G= (n.380-1G=) n.68-1005G= | |
| 9 | g.101427643C>G | CA374265486 | ALDOB | c.380-1G>C (n.380-1G>C) n.68-1005G>C | gnomAD v4 |
| 9 | g.101427643C>T | CA374265487 | ALDOB | c.380-1G>A (n.380-1G>A) n.68-1005G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.101427644T>A | CA374265488 | ALDOB | c.380-2A>T (n.380-2A>T) n.68-1006A>T | |
| 9 | g.101427644T>C | CA374265489 | ALDOB | c.380-2A>G (n.380-2A>G) n.68-1006A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427644T>G | CA374265490 | ALDOB | c.380-2A>C (n.380-2A>C) n.68-1006A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427644T= | CA1868280134 | ALDOB | c.380-2A= (n.380-2A=) n.68-1006A= | |
| 9 | g.101427645G>A | CA2579403700 | ALDOB | c.380-3C>T (n.380-3C>T) n.68-1007C>T | gnomAD v4 |
| 9 | g.101427646C>A | CA590045547 | ALDOB | c.380-4G>T (n.380-4G>T) n.68-1008G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427646C= | CA1868280135 | ALDOB | c.380-4G= (n.380-4G=) n.68-1008G= | |
| 9 | g.101427646C>T | CA5161618 | ALDOB | c.380-4G>A (n.380-4G>A) n.68-1008G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427647A>G | CA2691007540 | ALDOB | c.380-5T>C (n.380-5T>C) n.68-1009T>C | gnomAD v4 |
| 9 | g.101427651C>A | CA2739264792 | ALDOB | c.380-9G>T (n.380-9G>T) n.68-1013G>T | ClinVar |
| 9 | g.101427653C>A | CA2691007541 | ALDOB | c.380-11G>T (n.380-11G>T) n.68-1015G>T | gnomAD v4 |
| 9 | g.101427654A= | CA1868280136 | ALDOB | c.380-12T= (n.380-12T=) n.68-1016T= | |
| 9 | g.101427654A>C | CA5161619 | ALDOB | c.380-12T>G (n.380-12T>G) n.68-1016T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427654A>G | CA2580079284 | ALDOB | c.380-12T>C (n.380-12T>C) n.68-1016T>C | ClinVar gnomAD v4 |
| 9 | g.101427655A>G | CA2691007542 | ALDOB | c.380-13T>C (n.380-13T>C) n.68-1017T>C | gnomAD v4 |
| 9 | g.101427657A= | CA1868280137 | ALDOB | c.380-15T= (n.380-15T=) n.68-1019T= | |
| 9 | g.101427657A>C | CA1127397629 | ALDOB | c.380-15T>G (n.380-15T>G) n.68-1019T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427659A>C | CA2691007543 | ALDOB | c.380-17T>G (n.380-17T>G) n.68-1021T>G | gnomAD v4 |
| 9 | g.101427659A>G | CA2697557933 | ALDOB | c.380-17T>C (n.380-17T>C) n.68-1021T>C | ClinVar |
| 9 | g.101427660G>A | CA196957430 | ALDOB | c.380-18C>T (n.380-18C>T) n.68-1022C>T | dbSNP gnomAD v4 |
| 9 | g.101427660G= | CA1868280138 | ALDOB | c.380-18C= (n.380-18C=) n.68-1022C= | |
| 9 | g.101427660G>T | CA5161620 | ALDOB | c.380-18C>A (n.380-18C>A) n.68-1022C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427661A= | CA1868280139 | ALDOB | c.380-19T= (n.380-19T=) n.68-1023T= | |
| 9 | g.101427661A>G | CA5161621 | ALDOB | c.380-19T>C (n.380-19T>C) n.68-1023T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427662G>A | CA5161622 | ALDOB | c.380-20C>T (n.380-20C>T) n.68-1024C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427662G= | CA1868280140 | ALDOB | c.380-20C= (n.380-20C=) n.68-1024C= | |
| 9 | g.101427664A>C | CA2691007545 | ALDOB | c.380-22T>G (n.380-22T>G) n.68-1026T>G | gnomAD v4 |
| 9 | g.101427665A>C | CA2691007546 | ALDOB | c.380-23T>G (n.380-23T>G) n.68-1027T>G | gnomAD v4 |
| 9 | g.101427666G>A | CA590045548 | ALDOB | c.380-24C>T (n.380-24C>T) n.68-1028C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427666G= | CA1868280141 | ALDOB | c.380-24C= (n.380-24C=) n.68-1028C= | |
| 9 | g.101427667G>T | CA2691007547 | ALDOB | c.380-25C>A (n.380-25C>A) n.68-1029C>A | gnomAD v4 |
| 9 | g.101427668_101427669insATGCACCAACACATCTGGCTAATGTTTTTGA | CA2691007548 | ALDOB | c.380-27_380-26insTCAAAAACATTAGCCAGATGTGTTGGTGCAT (n.380-27_380-26insTCAAAAACATTAGCCAGATGTGTTGGTGCAT) n.68-1031_68-1030insTCAAAAACATTAGCCAGATGTGTTGGTGCAT | gnomAD v4 |
| 9 | g.101427669T>C | CA1868280143 | ALDOB | c.380-27A>G (n.380-27A>G) n.68-1031A>G | dbSNP |
| 9 | g.101427669T= | CA1868280142 | ALDOB | c.380-27A= (n.380-27A=) n.68-1031A= | |
| 9 | g.101427670_101427678delinsTCTTTGTAC | CA1868280144 | ALDOB | c.380-36_380-28delinsGTACAAAGA (n.380-36_380-28delinsGTACAAAGA) n.68-1040_68-1032delinsGTACAAAGA | |
| 9 | g.101427671C= | CA1868280145 | ALDOB | c.380-29G= (n.380-29G=) n.68-1033G= | |
| 9 | g.101427671C>T | CA5161624 | ALDOB | c.380-29G>A (n.380-29G>A) n.68-1033G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427681_101427688dup | CA857733253 | ALDOB | c.380-36_380-29dup (n.380-36_380-29dup) n.68-1040_68-1033dup | dbSNP gnomAD v4 |
| 9 | g.101427681_101427688del | CA5161623 | ALDOB | c.380-36_380-29del (n.380-36_380-29del) n.68-1040_68-1033del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427672T>C | CA590045549 | ALDOB | c.380-30A>G (n.380-30A>G) n.68-1034A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427672T= | CA1868280146 | ALDOB | c.380-30A= (n.380-30A=) n.68-1034A= | |
| 9 | g.101427674T>C | CA2691007549 | ALDOB | c.380-32A>G (n.380-32A>G) n.68-1036A>G | gnomAD v4 |
| 9 | g.101427675G>C | CA5161625 | ALDOB | c.380-33C>G (n.380-33C>G) n.68-1037C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427675G= | CA1868280147 | ALDOB | c.380-33C= (n.380-33C=) n.68-1037C= | |
| 9 | g.101427675G>T | CA2691007550 | ALDOB | c.380-33C>A (n.380-33C>A) n.68-1037C>A | dbSNP gnomAD v4 |
| 9 | g.101427676T>A | CA2691007551 | ALDOB | c.380-34A>T (n.380-34A>T) n.68-1038A>T | gnomAD v4 |
| 9 | g.101427678C= | CA1868280148 | ALDOB | c.380-36G= (n.380-36G=) n.68-1040G= | |
| 9 | g.101427678C>T | CA5161626 | ALDOB | c.380-36G>A (n.380-36G>A) n.68-1040G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427679C>A | CA5161627 | ALDOB | c.380-37G>T (n.380-37G>T) n.68-1041G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427679C= | CA1868280149 | ALDOB | c.380-37G= (n.380-37G=) n.68-1041G= | |
| 9 | g.101427679C>G | CA1127397636 | ALDOB | c.380-37G>C (n.380-37G>C) n.68-1041G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427679C>T | CA590045550 | ALDOB | c.380-37G>A (n.380-37G>A) n.68-1041G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427680T>C | CA1868280151 | ALDOB | c.380-38A>G (n.380-38A>G) n.68-1042A>G | dbSNP |
| 9 | g.101427680T>G | CA5161628 | ALDOB | c.380-38A>C (n.380-38A>C) n.68-1042A>C | dbSNP ExAC gnomAD v2 |
| 9 | g.101427680T= | CA1868280150 | ALDOB | c.380-38A= (n.380-38A=) n.68-1042A= | |
| 9 | g.101427684T>C | CA2691007552 | ALDOB | c.380-42A>G (n.380-42A>G) n.68-1046A>G | gnomAD v4 |
| 9 | g.101427686C= | CA1868280152 | ALDOB | c.380-44G= (n.380-44G=) n.68-1048G= | |
| 9 | g.101427686C>T | CA590045551 | ALDOB | c.380-44G>A (n.380-44G>A) n.68-1048G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427687C= | CA1868280153 | ALDOB | c.380-45G= (n.380-45G=) n.68-1049G= | |
| 9 | g.101427687C>T | CA5161629 | ALDOB | c.380-45G>A (n.380-45G>A) n.68-1049G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427689G>A | CA5161630 | ALDOB | c.380-47C>T (n.380-47C>T) n.68-1051C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427689G= | CA1868280154 | ALDOB | c.380-47C= (n.380-47C=) n.68-1051C= | |
| 9 | g.101427689G>T | CA2691007553 | ALDOB | c.380-47C>A (n.380-47C>A) n.68-1051C>A | gnomAD v4 |
| 9 | g.101427690A>T | CA2691007554 | ALDOB | c.380-48T>A (n.380-48T>A) n.68-1052T>A | gnomAD v4 |
| 9 | g.101427694A= | CA1868280155 | ALDOB | c.380-52T= (n.380-52T=) n.68-1056T= | |
| 9 | g.101427694A>C | CA5161631 | ALDOB | c.380-52T>G (n.380-52T>G) n.68-1056T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427694A>G | CA5161632 | ALDOB | c.380-52T>C (n.380-52T>C) n.68-1056T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427694A>T | CA2691007555 | ALDOB | c.380-52T>A (n.380-52T>A) n.68-1056T>A | gnomAD v4 |
| 9 | g.101427695T>C | CA196957450 | ALDOB | c.380-53A>G (n.380-53A>G) n.68-1057A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427695T= | CA1868280156 | ALDOB | c.380-53A= (n.380-53A=) n.68-1057A= | |
| 9 | g.101427696G>T | CA2579403701 | ALDOB | c.380-54C>A (n.380-54C>A) n.68-1058C>A | gnomAD v4 |
| 9 | g.101427699del | CA2691007556 | ALDOB | c.380-54del (n.380-54del) n.68-1058del | gnomAD v4 |