9 | g.101424974A>C | CA374264455 | ALDOB | c.868T>G (p.Cys290Gly)
| |
9 | g.101424974A>G | CA374264453 | ALDOB | c.868T>C (p.Cys290Arg)
| |
9 | g.101424974A>T | CA374264454 | ALDOB | c.868T>A (p.Cys290Ser)
| |
9 | g.101424974_101424977delinsAAAG | CA1868278642 | ALDOB | c.865_868delinsCTTT (p.Leu289=)
| |
9 | g.101424975A>C | CA466461928 | ALDOB | c.867T>G (p.Leu289=)
| |
9 | g.101424975A>G | CA466461929 | ALDOB | c.867T>C (p.Leu289=)
| |
9 | g.101424975A>T | CA466461927 | ALDOB | c.867T>A (p.Leu289=)
| |
9 | g.101424975_101424977del | CA114305 | ALDOB | c.865_867del (p.Leu289del)
| ClinVar dbSNP |
9 | g.101424976A= | CA1868278647 | ALDOB | c.866T= (p.Leu289=)
| |
9 | g.101424976A>C | CA374264456 | ALDOB | c.866T>G (p.Leu289Arg)
| dbSNP |
9 | g.101424976A>G | CA374264457 | ALDOB | c.866T>C (p.Leu289Pro)
| |
9 | g.101424976A>T | CA374264458 | ALDOB | c.866T>A (p.Leu289His)
| |
9 | g.101424976_101424977delinsAG | CA1868278646 | ALDOB | c.865_866delinsCT (p.Leu289=)
| |
9 | g.101424977G>A | CA5161441 | ALDOB | c.865C>T (p.Leu289Phe)
| dbSNP ExAC gnomAD v2 |
9 | g.101424977G>C | CA374264459 | ALDOB | c.865C>G (p.Leu289Val)
| |
9 | g.101424977G= | CA1868278650 | ALDOB | c.865C= (p.Leu289=)
| |
9 | g.101424977G>T | CA374264460 | ALDOB | c.865C>A (p.Leu289Ile)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424978del | CA347831 | ALDOB | c.865del (p.Leu289PhefsTer10)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424978G>A | CA5161442 | ALDOB | c.864C>T (p.Asn288=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424978G>C | CA374264461 | ALDOB | c.864C>G (p.Asn288Lys)
| gnomAD v4 |
9 | g.101424978G= | CA1868278652 | ALDOB | c.864C= (p.Asn288=)
| |
9 | g.101424978G>T | CA374264462 | ALDOB | c.864C>A (p.Asn288Lys)
| dbSNP gnomAD v4 |
9 | g.101424979T>A | CA374264463 | ALDOB | c.863A>T (p.Asn288Ile)
| |
9 | g.101424979T>C | CA374264465 | ALDOB | c.863A>G (p.Asn288Ser)
| |
9 | g.101424979T>G | CA374264464 | ALDOB | c.863A>C (p.Asn288Thr)
| |
9 | g.101424980dup | CA2691006785 | ALDOB | c.863dup (p.Asn288LysfsTer?)
| gnomAD v4 |
9 | g.101424980T>A | CA374264466 | ALDOB | c.862A>T (p.Asn288Tyr)
| |
9 | g.101424980T>C | CA374264467 | ALDOB | c.862A>G (p.Asn288Asp)
| |
9 | g.101424980T>G | CA374264468 | ALDOB | c.862A>C (p.Asn288His)
| |
9 | g.101424981G>A | CA466461930 | ALDOB | c.861C>T (p.Ile287=)
| |
9 | g.101424981G>C | CA374264469 | ALDOB | c.861C>G (p.Ile287Met)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424981G= | CA1868278654 | ALDOB | c.861C= (p.Ile287=)
| |
9 | g.101424981G>T | CA466461931 | ALDOB | c.861C>A (p.Ile287=)
| |
9 | g.101424982A>C | CA374264470 | ALDOB | c.860T>G (p.Ile287Ser)
| |
9 | g.101424982A>G | CA374264471 | ALDOB | c.860T>C (p.Ile287Thr)
| |
9 | g.101424982A>T | CA374264472 | ALDOB | c.860T>A (p.Ile287Asn)
| gnomAD v4 |
9 | g.101424983T>A | CA374264473 | ALDOB | c.859A>T (p.Ile287Phe)
| |
9 | g.101424983T>C | CA374264474 | ALDOB | c.859A>G (p.Ile287Val)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.101424983T>G | CA374264475 | ALDOB | c.859A>C (p.Ile287Leu)
| gnomAD v4 |
9 | g.101424983T= | CA1868278656 | ALDOB | c.859A= (p.Ile287=)
| |
9 | g.101424984A>C | CA466461932 | ALDOB | c.858T>G (p.Ala286=)
| ClinVar |
9 | g.101424984A>G | CA466461933 | ALDOB | c.858T>C (p.Ala286=)
| |
9 | g.101424984A>T | CA466461934 | ALDOB | c.858T>A (p.Ala286=)
| |
9 | g.101424985G>A | CA374264477 | ALDOB | c.857C>T (p.Ala286Val)
| gnomAD v4 |
9 | g.101424985G>C | CA374264478 | ALDOB | c.857C>G (p.Ala286Gly)
| |
9 | g.101424985G>T | CA374264476 | ALDOB | c.857C>A (p.Ala286Asp)
| |
9 | g.101424986C>A | CA374264479 | ALDOB | c.856G>T (p.Ala286Ser)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424986C= | CA1868278657 | ALDOB | c.856G= (p.Ala286=)
| |
9 | g.101424986C>G | CA374264480 | ALDOB | c.856G>C (p.Ala286Pro)
| |
9 | g.101424986C>T | CA374264481 | ALDOB | c.856G>A (p.Ala286Thr)
| dbSNP |
9 | g.101424987A>C | CA374264482 | ALDOB | c.855T>G (p.Asn285Lys)
| |
9 | g.101424987A>G | CA466461935 | ALDOB | c.855T>C (p.Asn285=)
| ClinVar gnomAD v4 |
9 | g.101424987A>T | CA374264483 | ALDOB | c.855T>A (p.Asn285Lys)
| |
9 | g.101424988T>A | CA374264486 | ALDOB | c.854A>T (p.Asn285Ile)
| |
9 | g.101424988T>C | CA374264485 | ALDOB | c.854A>G (p.Asn285Ser)
| |
9 | g.101424988T>G | CA374264484 | ALDOB | c.854A>C (p.Asn285Thr)
| |
9 | g.101424989T>A | CA374264487 | ALDOB | c.853A>T (p.Asn285Tyr)
| |
9 | g.101424989T>C | CA5161444 | ALDOB | c.853A>G (p.Asn285Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424989T>G | CA5161443 | ALDOB | c.853A>C (p.Asn285His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424989T= | CA1868278659 | ALDOB | c.853A= (p.Asn285=)
| |
9 | g.101424990G>A | CA466461936 | ALDOB | c.852C>T (p.Leu284=)
| COSMIC |
9 | g.101424990G>C | CA466461937 | ALDOB | c.852C>G (p.Leu284=)
| |
9 | g.101424990G>T | CA466461938 | ALDOB | c.852C>A (p.Leu284=)
| |
9 | g.101424991A>C | CA374264488 | ALDOB | c.851T>G (p.Leu284Arg)
| |
9 | g.101424991A>G | CA374264489 | ALDOB | c.851T>C (p.Leu284Pro)
| ClinVar dbSNP gnomAD v4 |
9 | g.101424991A>T | CA374264490 | ALDOB | c.851T>A (p.Leu284His)
| COSMIC |
9 | g.101424992G>A | CA374264491 | ALDOB | c.850C>T (p.Leu284Phe)
| gnomAD v4 |
9 | g.101424992G>C | CA374264493 | ALDOB | c.850C>G (p.Leu284Val)
| |
9 | g.101424992G>T | CA374264492 | ALDOB | c.850C>A (p.Leu284Ile)
| |
9 | g.101424993G>A | CA5161445 | ALDOB | c.849C>T (p.Asn283=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424993G>C | CA374264494 | ALDOB | c.849C>G (p.Asn283Lys)
| |
9 | g.101424993G= | CA1868278661 | ALDOB | c.849C= (p.Asn283=)
| |
9 | g.101424993G>T | CA374264495 | ALDOB | c.849C>A (p.Asn283Lys)
| |
9 | g.101424994T>A | CA374264496 | ALDOB | c.848A>T (p.Asn283Ile)
| |
9 | g.101424994T>C | CA374264497 | ALDOB | c.848A>G (p.Asn283Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424994T>G | CA374264498 | ALDOB | c.848A>C (p.Asn283Thr)
| |
9 | g.101424994T= | CA1868278663 | ALDOB | c.848A= (p.Asn283=)
| |
9 | g.101424995T>A | CA374264499 | ALDOB | c.847A>T (p.Asn283Tyr)
| |
9 | g.101424995T>C | CA374264500 | ALDOB | c.847A>G (p.Asn283Asp)
| gnomAD v4 |
9 | g.101424995T>G | CA374264501 | ALDOB | c.847A>C (p.Asn283His)
| |
9 | g.101424996G>A | CA466461941 | ALDOB | c.846C>T (p.Leu282=)
| dbSNP |
9 | g.101424996G>C | CA466461940 | ALDOB | c.846C>G (p.Leu282=)
| |
9 | g.101424996G= | CA1868278665 | ALDOB | c.846C= (p.Leu282=)
| |
9 | g.101424996G>T | CA466461939 | ALDOB | c.846C>A (p.Leu282=)
| dbSNP |
9 | g.101424997A>C | CA374264502 | ALDOB | c.845T>G (p.Leu282Arg)
| |
9 | g.101424997A>G | CA374264503 | ALDOB | c.845T>C (p.Leu282Pro)
| |
9 | g.101424997A>T | CA374264504 | ALDOB | c.845T>A (p.Leu282His)
| |
9 | g.101424998G>A | CA374264506 | ALDOB | c.844C>T (p.Leu282Phe)
| |
9 | g.101424998G>C | CA374264507 | ALDOB | c.844C>G (p.Leu282Val)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101424998G= | CA1868278667 | ALDOB | c.844C= (p.Leu282=)
| |
9 | g.101424998G>T | CA374264505 | ALDOB | c.844C>A (p.Leu282Ile)
| |
9 | g.101424999A= | CA1868278669 | ALDOB | c.843T= (p.Thr281=)
| |
9 | g.101424999A>C | CA5161446 | ALDOB | c.843T>G (p.Thr281=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424999A>G | CA196956624 | ALDOB | c.843T>C (p.Thr281=)
| dbSNP |
9 | g.101424999A>T | CA466461942 | ALDOB | c.843T>A (p.Thr281=)
| dbSNP |
9 | g.101425000G>A | CA374264510 | ALDOB | c.842C>T (p.Thr281Ile)
| gnomAD v4 |
9 | g.101425000G>C | CA374264508 | ALDOB | c.842C>G (p.Thr281Ser)
| |
9 | g.101425000G>T | CA374264509 | ALDOB | c.842C>A (p.Thr281Asn)
| |
9 | g.101425001_101425002del | CA2499219514 | ALDOB | c.841_842del (p.Thr281SerfsTer?)
| ClinVar dbSNP |
9 | g.101425001T>A | CA374264511 | ALDOB | c.841A>T (p.Thr281Ser)
| |
9 | g.101425001T>C | CA374264512 | ALDOB | c.841A>G (p.Thr281Ala)
| |
9 | g.101425001T>G | CA374264513 | ALDOB | c.841A>C (p.Thr281Pro)
| |
9 | g.101425002G>A | CA196956625 | ALDOB | c.840C>T (p.Ala280=)
| ClinVar dbSNP |
9 | g.101425002G>C | CA466461944 | ALDOB | c.840C>G (p.Ala280=)
| |
9 | g.101425002G= | CA1868278672 | ALDOB | c.840C= (p.Ala280=)
| |
9 | g.101425002G>T | CA466461943 | ALDOB | c.840C>A (p.Ala280=)
| |
9 | g.101425003G>A | CA374264516 | ALDOB | c.839C>T (p.Ala280Val)
| gnomAD v4 |
9 | g.101425003G>C | CA374264514 | ALDOB | c.839C>G (p.Ala280Gly)
| gnomAD v4 |
9 | g.101425003G= | CA1868278674 | ALDOB | c.839C= (p.Ala280=)
| |
9 | g.101425003G>T | CA374264515 | ALDOB | c.839C>A (p.Ala280Asp)
| ClinVar dbSNP |
9 | g.101425004C>A | CA374264517 | ALDOB | c.838G>T (p.Ala280Ser)
| |
9 | g.101425004C>G | CA374264518 | ALDOB | c.838G>C (p.Ala280Pro)
| |
9 | g.101425004C>T | CA374264519 | ALDOB | c.838G>A (p.Ala280Thr)
| |
9 | g.101425005A>C | CA374264520 | ALDOB | c.837T>G (p.Asp279Glu)
| |
9 | g.101425005A>G | CA466461945 | ALDOB | c.837T>C (p.Asp279=)
| gnomAD v4 |
9 | g.101425005A>T | CA374264521 | ALDOB | c.837T>A (p.Asp279Glu)
| |
9 | g.101425006T>A | CA374264522 | ALDOB | c.836A>T (p.Asp279Val)
| |
9 | g.101425006T>C | CA374264524 | ALDOB | c.836A>G (p.Asp279Gly)
| |
9 | g.101425006T>G | CA374264523 | ALDOB | c.836A>C (p.Asp279Ala)
| |
9 | g.101425007C>A | CA374264525 | ALDOB | c.835G>T (p.Asp279Tyr)
| |
9 | g.101425007C= | CA1868278676 | ALDOB | c.835G= (p.Asp279=)
| |
9 | g.101425007C>G | CA374264526 | ALDOB | c.835G>C (p.Asp279His)
| |
9 | g.101425007C>T | CA196956626 | ALDOB | c.835G>A (p.Asp279Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425008C>A | CA374264527 | ALDOB | c.834G>T (p.Glu278Asp)
| |
9 | g.101425008C>G | CA374264528 | ALDOB | c.834G>C (p.Glu278Asp)
| gnomAD v4 |
9 | g.101425008C>T | CA466461946 | ALDOB | c.834G>A (p.Glu278=)
| gnomAD v4 |
9 | g.101425011_101425017del | CA2691006808 | ALDOB | c.828_834del (p.Ser276ArgfsTer21)
| gnomAD v4 |
9 | g.101425009T>A | CA374264529 | ALDOB | c.833A>T (p.Glu278Val)
| |
9 | g.101425009T>C | CA374264530 | ALDOB | c.833A>G (p.Glu278Gly)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425009T>G | CA374264531 | ALDOB | c.833A>C (p.Glu278Ala)
| |
9 | g.101425009T= | CA1868278677 | ALDOB | c.833A= (p.Glu278=)
| |
9 | g.101425010C>A | CA374264532 | ALDOB | c.832G>T (p.Glu278Ter)
| |
9 | g.101425010C= | CA1868278679 | ALDOB | c.832G= (p.Glu278=)
| |
9 | g.101425010C>G | CA374264533 | ALDOB | c.832G>C (p.Glu278Gln)
| |
9 | g.101425010C>T | CA374264534 | ALDOB | c.832G>A (p.Glu278Lys)
| dbSNP |
9 | g.101425011T>A | CA374264535 | ALDOB | c.831A>T (p.Glu277Asp)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425011T>C | CA466461947 | ALDOB | c.831A>G (p.Glu277=)
| dbSNP |
9 | g.101425011T>G | CA374264536 | ALDOB | c.831A>C (p.Glu277Asp)
| |
9 | g.101425011T= | CA1868278681 | ALDOB | c.831A= (p.Glu277=)
| |
9 | g.101425012T>A | CA374264537 | ALDOB | c.830A>T (p.Glu277Val)
| |
9 | g.101425012T>C | CA374264538 | ALDOB | c.830A>G (p.Glu277Gly)
| |
9 | g.101425012T>G | CA374264539 | ALDOB | c.830A>C (p.Glu277Ala)
| |
9 | g.101425013C>A | CA374264540 | ALDOB | c.829G>T (p.Glu277Ter)
| |
9 | g.101425013C>G | CA374264541 | ALDOB | c.829G>C (p.Glu277Gln)
| |
9 | g.101425013C>T | CA374264542 | ALDOB | c.829G>A (p.Glu277Lys)
| gnomAD v4 |
9 | g.101425014A>C | CA374264544 | ALDOB | c.828T>G (p.Ser276Arg)
| |
9 | g.101425014A>G | CA466461948 | ALDOB | c.828T>C (p.Ser276=)
| ClinVar gnomAD v4 |
9 | g.101425014A>T | CA374264543 | ALDOB | c.828T>A (p.Ser276Arg)
| |
9 | g.101425015C>A | CA374264545 | ALDOB | c.827G>T (p.Ser276Ile)
| |
9 | g.101425015C>G | CA374264546 | ALDOB | c.827G>C (p.Ser276Thr)
| gnomAD v4 |
9 | g.101425015C>T | CA374264547 | ALDOB | c.827G>A (p.Ser276Asn)
| gnomAD v4 |
9 | g.101425016T>A | CA374264548 | ALDOB | c.826A>T (p.Ser276Cys)
| |
9 | g.101425016T>C | CA374264549 | ALDOB | c.826A>G (p.Ser276Gly)
| gnomAD v4 |
9 | g.101425016T>G | CA196956627 | ALDOB | c.826A>C (p.Ser276Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425016T= | CA1868278683 | ALDOB | c.826A= (p.Ser276=)
| |
9 | g.101425017C>A | CA374264550 | ALDOB | c.825G>T (p.Met275Ile)
| |
9 | g.101425017C= | CA1868278685 | ALDOB | c.825G= (p.Met275=)
| |
9 | g.101425017C>G | CA374264552 | ALDOB | c.825G>C (p.Met275Ile)
| dbSNP gnomAD v4 |
9 | g.101425017C>T | CA374264551 | ALDOB | c.825G>A (p.Met275Ile)
| gnomAD v4 |
9 | g.101425018A>C | CA374264553 | ALDOB | c.824T>G (p.Met275Arg)
| gnomAD v4 |
9 | g.101425018A>G | CA374264554 | ALDOB | c.824T>C (p.Met275Thr)
| |
9 | g.101425018A>T | CA374264555 | ALDOB | c.824T>A (p.Met275Lys)
| |
9 | g.101425019T>A | CA374264556 | ALDOB | c.823A>T (p.Met275Leu)
| |
9 | g.101425019T>C | CA5161447 | ALDOB | c.823A>G (p.Met275Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425019T>G | CA374264557 | ALDOB | c.823A>C (p.Met275Leu)
| |
9 | g.101425019T= | CA1868278687 | ALDOB | c.823A= (p.Met275=)
| |
9 | g.101425020G>A | CA466461949 | ALDOB | c.822C>T (p.Gly274=)
| dbSNP |
9 | g.101425020G>C | CA466461950 | ALDOB | c.822C>G (p.Gly274=)
| |
9 | g.101425020G= | CA1868278689 | ALDOB | c.822C= (p.Gly274=)
| |
9 | g.101425020G>T | CA466461951 | ALDOB | c.822C>A (p.Gly274=)
| |
9 | g.101425021C>A | CA374264558 | ALDOB | c.821G>T (p.Gly274Val)
| |
9 | g.101425021C= | CA1868278690 | ALDOB | c.821G= (p.Gly274=)
| |
9 | g.101425021C>G | CA374264559 | ALDOB | c.821G>C (p.Gly274Ala)
| |
9 | g.101425021C>T | CA196956629 | ALDOB | c.821G>A (p.Gly274Asp)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.101425022C>A | CA374264560 | ALDOB | c.820G>T (p.Gly274Cys)
| |
9 | g.101425022C= | CA1868278693 | ALDOB | c.820G= (p.Gly274=)
| |
9 | g.101425022C>G | CA374264561 | ALDOB | c.820G>C (p.Gly274Arg)
| |
9 | g.101425022C>T | CA5161448 | ALDOB | c.820G>A (p.Gly274Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425023A= | CA1868278695 | ALDOB | c.819T= (p.Gly273=)
| |
9 | g.101425023A>C | CA466461953 | ALDOB | c.819T>G (p.Gly273=)
| dbSNP |
9 | g.101425023A>G | CA466461952 | ALDOB | c.819T>C (p.Gly273=)
| ClinVar dbSNP |
9 | g.101425023A>T | CA5161449 | ALDOB | c.819T>A (p.Gly273=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425024C>A | CA374264562 | ALDOB | c.818G>T (p.Gly273Val)
| |
9 | g.101425024C= | CA1868278697 | ALDOB | c.818G= (p.Gly273=)
| |
9 | g.101425024C>G | CA5161451 | ALDOB | c.818G>C (p.Gly273Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425024C>T | CA5161450 | ALDOB | c.818G>A (p.Gly273Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425025C>A | CA5161453 | ALDOB | c.817G>T (p.Gly273Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425025C= | CA1868278699 | ALDOB | c.817G= (p.Gly273=)
| |
9 | g.101425025C>G | CA374264563 | ALDOB | c.817G>C (p.Gly273Arg)
| |
9 | g.101425025C>T | CA5161452 | ALDOB | c.817G>A (p.Gly273Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425026A>C | CA466461954 | ALDOB | c.816T>G (p.Ser272=)
| |
9 | g.101425026A>G | CA466461955 | ALDOB | c.816T>C (p.Ser272=)
| |
9 | g.101425026A>T | CA466461956 | ALDOB | c.816T>A (p.Ser272=)
| |
9 | g.101425027G>A | CA374264564 | ALDOB | c.815C>T (p.Ser272Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425027G>C | CA374264565 | ALDOB | c.815C>G (p.Ser272Cys)
| |
9 | g.101425027G= | CA1868278702 | ALDOB | c.815C= (p.Ser272=)
| |
9 | g.101425027G>T | CA374264566 | ALDOB | c.815C>A (p.Ser272Tyr)
| dbSNP |
9 | g.101425028A= | CA1868278705 | ALDOB | c.814T= (p.Ser272=)
| |
9 | g.101425028A>C | CA374264567 | ALDOB | c.814T>G (p.Ser272Ala)
| |
9 | g.101425028A>G | CA374264568 | ALDOB | c.814T>C (p.Ser272Pro)
| |
9 | g.101425028A>T | CA5161454 | ALDOB | c.814T>A (p.Ser272Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425028_101425029delinsAC | CA1868278704 | ALDOB | c.813_814delinsGT (p.Leu271=)
| |
9 | g.101425029_101425030del | CA913142079 | ALDOB | c.813_814del (p.Leu271PhefsTer6)
| |
9 | g.101425029del | CA590045526 | ALDOB | c.813del (p.Leu271PhefsTer5)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425029C>A | CA374264569 | ALDOB | c.813G>T (p.Leu271Phe)
| |
9 | g.101425029C= | CA1868278708 | ALDOB | c.813G= (p.Leu271=)
| |
9 | g.101425029C>G | CA374264570 | ALDOB | c.813G>C (p.Leu271Phe)
| gnomAD v4 |
9 | g.101425029C>T | CA466461957 | ALDOB | c.813G>A (p.Leu271=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425029_101425030delinsCA | CA1868278709 | ALDOB | c.812_813delinsTG (p.Leu271=)
| |
9 | g.101425030A>C | CA374264573 | ALDOB | c.812T>G (p.Leu271Trp)
| |
9 | g.101425030A>G | CA374264572 | ALDOB | c.812T>C (p.Leu271Ser)
| ClinVar dbSNP gnomAD v4 |
9 | g.101425030A>T | CA374264571 | ALDOB | c.812T>A (p.Leu271Ter)
| |
9 | g.101425034del | CA658821561 | ALDOB | c.812del (p.Leu271CysfsTer5)
| ClinVar dbSNP |
9 | g.101425031A= | CA1868278713 | ALDOB | c.811T= (p.Leu271=)
| |
9 | g.101425031A>C | CA374264574 | ALDOB | c.811T>G (p.Leu271Val)
| |
9 | g.101425031A>G | CA196956638 | ALDOB | c.811T>C (p.Leu271=)
| dbSNP |
9 | g.101425031A>T | CA374264575 | ALDOB | c.811T>A (p.Leu271Met)
| |
9 | g.101425032A= | CA1868278715 | ALDOB | c.810T= (p.Phe270=)
| |
9 | g.101425032A>C | CA374264576 | ALDOB | c.810T>G (p.Phe270Leu)
| |
9 | g.101425032A>G | CA466461958 | ALDOB | c.810T>C (p.Phe270=)
| dbSNP gnomAD v2 |
9 | g.101425032A>T | CA374264577 | ALDOB | c.810T>A (p.Phe270Leu)
| |
9 | g.101425033A>C | CA374264578 | ALDOB | c.809T>G (p.Phe270Cys)
| |
9 | g.101425033A>G | CA374264579 | ALDOB | c.809T>C (p.Phe270Ser)
| |
9 | g.101425033A>T | CA374264580 | ALDOB | c.809T>A (p.Phe270Tyr)
| |
9 | g.101425033_101425036delinsAAGC | CA1868278717 | ALDOB | c.806_809delinsGCTT (p.Cys269=)
| |
9 | g.101425034_101425037del | CA913142080 | ALDOB | c.806_809del (p.Cys269PhefsTer6)
| |
9 | g.101425034A>C | CA374264581 | ALDOB | c.808T>G (p.Phe270Val)
| |
9 | g.101425034A>G | CA374264582 | ALDOB | c.808T>C (p.Phe270Leu)
| |
9 | g.101425034A>T | CA374264583 | ALDOB | c.808T>A (p.Phe270Ile)
| |
9 | g.101425036_101425038del | CA590045527 | ALDOB | c.806_808del (p.Cys269del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425035G>A | CA466461959 | ALDOB | c.807C>T (p.Cys269=)
| |
9 | g.101425035G>C | CA374264584 | ALDOB | c.807C>G (p.Cys269Trp)
| |
9 | g.101425035G>T | CA374264585 | ALDOB | c.807C>A (p.Cys269Ter)
| |
9 | g.101425036C>A | CA374264587 | ALDOB | c.806G>T (p.Cys269Phe)
| |
9 | g.101425036C>G | CA374264588 | ALDOB | c.806G>C (p.Cys269Ser)
| gnomAD v4 |
9 | g.101425036C>T | CA374264586 | ALDOB | c.806G>A (p.Cys269Tyr)
| gnomAD v4 |
9 | g.101425037A>C | CA374264589 | ALDOB | c.805T>G (p.Cys269Gly)
| |
9 | g.101425037A>G | CA374264590 | ALDOB | c.805T>C (p.Cys269Arg)
| |
9 | g.101425037A>T | CA374264591 | ALDOB | c.805T>A (p.Cys269Ser)
| |
9 | g.101425038G>A | CA466461960 | ALDOB | c.804C>T (p.Ile268=)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425038G>C | CA374264592 | ALDOB | c.804C>G (p.Ile268Met)
| |
9 | g.101425038G= | CA1868278721 | ALDOB | c.804C= (p.Ile268=)
| |
9 | g.101425038G>T | CA466461961 | ALDOB | c.804C>A (p.Ile268=)
| |
9 | g.101425039A= | CA1868278723 | ALDOB | c.803T= (p.Ile268=)
| |
9 | g.101425039A>C | CA374264593 | ALDOB | c.803T>G (p.Ile268Ser)
| |
9 | g.101425039A>G | CA374264594 | ALDOB | c.803T>C (p.Ile268Thr)
| |
9 | g.101425039A>T | CA196956641 | ALDOB | c.803T>A (p.Ile268Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425040T>A | CA374264595 | ALDOB | c.802A>T (p.Ile268Phe)
| |
9 | g.101425040T>C | CA374264596 | ALDOB | c.802A>G (p.Ile268Val)
| |
9 | g.101425040T>G | CA374264597 | ALDOB | c.802A>C (p.Ile268Leu)
| |
9 | g.101425041G>A | CA466461962 | ALDOB | c.801C>T (p.Gly267=)
| gnomAD v4 |
9 | g.101425041G>C | CA466461963 | ALDOB | c.801C>G (p.Gly267=)
| |
9 | g.101425041G>T | CA466461964 | ALDOB | c.801C>A (p.Gly267=)
| |
9 | g.101425042C>A | CA374264598 | ALDOB | c.800G>T (p.Gly267Val)
| |
9 | g.101425042C>G | CA374264599 | ALDOB | c.800G>C (p.Gly267Ala)
| |
9 | g.101425042C>T | CA374264600 | ALDOB | c.800G>A (p.Gly267Asp)
| |
9 | g.101425043C>A | CA374264603 | ALDOB | c.800-1G>T (n.800-1G>T)
| |
9 | g.101425043C>G | CA374264602 | ALDOB | c.800-1G>C (n.800-1G>C)
| |
9 | g.101425043C>T | CA374264601 | ALDOB | c.800-1G>A (n.800-1G>A)
| |
9 | g.101425043_101425044insAGGAACAGCTGCAGGAACAGTACGG | CA2720258362 | ALDOB | c.800-2_800-1insCCGTACTGTTCCTGCAGCTGTTCCT (n.800-2_800-1insCCGTACTGTTCCTGCAGCTGTTCCT)
| dbSNP |
9 | g.101425043_101425044insAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGA | CA2785321925 | ALDOB | c.800-2_800-1insTCATGTTTACCTGGAGGGCACCCTGCTAAAGCCCAACATGGTGACTGCTGGACATGCCTGCACCAAGAAGTATACTCCAGAACAAGTAGCTATGGCCACCGTAACAGCTCTCCACCGTACTGTTCCTGCAGCTGTTCCT (n.800-2_800-1insTCATGTTTACCTGGAGGGCACCCTGCTAAAGCCCAACATGGTGACTGCTGGACATGCCTGCACCAAGAAGTATACTCCAGAACAAGTAGCTATGGCCACCGTAACAGCTCTCCACCGTACTGTTCCTGCAGCTGTTCCT)
| |
9 | g.101425044T>A | CA374264604 | ALDOB | c.800-2A>T (n.800-2A>T)
| |
9 | g.101425044T>C | CA374264605 | ALDOB | c.800-2A>G (n.800-2A>G)
| ClinVar |
9 | g.101425044T>G | CA5161455 | ALDOB | c.800-2A>C (n.800-2A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425044T= | CA1868278726 | ALDOB | c.800-2A= (n.800-2A=)
| |
9 | g.101425045G>A | CA2579403625 | ALDOB | c.800-3C>T (n.800-3C>T)
| |
9 | g.101425047T>A | CA196956644 | ALDOB | c.800-5A>T (n.800-5A>T)
| dbSNP |
9 | g.101425047T>C | CA2499219515 | ALDOB | c.800-5A>G (n.800-5A>G)
| ClinVar dbSNP |
9 | g.101425047T= | CA1868278728 | ALDOB | c.800-5A= (n.800-5A=)
| |
9 | g.101425048A= | CA1868278730 | ALDOB | c.800-6T= (n.800-6T=)
| |
9 | g.101425048A>G | CA5161456 | ALDOB | c.800-6T>C (n.800-6T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425049G>A | CA5161457 | ALDOB | c.800-7C>T (n.800-7C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425049G= | CA1868278732 | ALDOB | c.800-7C= (n.800-7C=)
| |
9 | g.101425050G>A | CA2573143649 | ALDOB | c.800-8C>T (n.800-8C>T)
| ClinVar dbSNP |
9 | g.101425050G>T | CA2691006866 | ALDOB | c.800-8C>A (n.800-8C>A)
| gnomAD v4 |
9 | g.101425052G>A | CA196956650 | ALDOB | c.800-10C>T (n.800-10C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425052G>C | CA2573143650 | ALDOB | c.800-10C>G (n.800-10C>G)
| ClinVar dbSNP |
9 | g.101425052G= | CA1868278734 | ALDOB | c.800-10C= (n.800-10C=)
| |
9 | g.101425053A= | CA1868278736 | ALDOB | c.800-11T= (n.800-11T=)
| |
9 | g.101425053A>G | CA5161458 | ALDOB | c.800-11T>C (n.800-11T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425054G>A | CA2740095547 | ALDOB | c.800-12C>T (n.800-12C>T)
| ClinVar |
9 | g.101425054G>C | CA2691006870 | ALDOB | c.800-12C>G (n.800-12C>G)
| gnomAD v4 |
9 | g.101425054G>T | CA2697557930 | ALDOB | c.800-12C>A (n.800-12C>A)
| ClinVar |
9 | g.101425055A>C | CA2739264885 | ALDOB | c.800-13T>G (n.800-13T>G)
| ClinVar |
9 | g.101425057G>A | CA196956653 | ALDOB | c.800-15C>T (n.800-15C>T)
| ClinVar dbSNP gnomAD v4 |
9 | g.101425057G= | CA1868278737 | ALDOB | c.800-15C= (n.800-15C=)
| |
9 | g.101425058C= | CA1868278739 | ALDOB | c.800-16G= (n.800-16G=)
| |
9 | g.101425058C>G | CA5161459 | ALDOB | c.800-16G>C (n.800-16G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425059C>A | CA2691006873 | ALDOB | c.800-17G>T (n.800-17G>T)
| gnomAD v4 |
9 | g.101425060A>G | CA2691006874 | ALDOB | c.800-18T>C (n.800-18T>C)
| gnomAD v4 |
9 | g.101425064C>A | CA2579403626 | ALDOB | c.800-22G>T (n.800-22G>T)
| gnomAD v4 |
9 | g.101425064C= | CA1868278741 | ALDOB | c.800-22G= (n.800-22G=)
| |
9 | g.101425064C>T | CA590045528 | ALDOB | c.800-22G>A (n.800-22G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425066C= | CA1868278743 | ALDOB | c.800-24G= (n.800-24G=)
| |
9 | g.101425066C>T | CA590045529 | ALDOB | c.800-24G>A (n.800-24G>A)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425068C>A | CA2691006878 | ALDOB | c.800-26G>T (n.800-26G>T)
| gnomAD v4 |
9 | g.101425068C>T | CA2579403627 | ALDOB | c.800-26G>A (n.800-26G>A)
| |
9 | g.101425070A= | CA1868278745 | ALDOB | c.800-28T= (n.800-28T=)
| |
9 | g.101425070A>C | CA5161461 | ALDOB | c.800-28T>G (n.800-28T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425070A>G | CA5161460 | ALDOB | c.800-28T>C (n.800-28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425072T>A | CA2691006882 | ALDOB | c.800-30A>T (n.800-30A>T)
| gnomAD v4 |
9 | g.101425073A= | CA1868278747 | ALDOB | c.800-31T= (n.800-31T=)
| |
9 | g.101425073A>C | CA1127396737 | ALDOB | c.800-31T>G (n.800-31T>G)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425074G>C | CA1127396738 | ALDOB | c.800-32C>G (n.800-32C>G)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425074G= | CA1868278748 | ALDOB | c.800-32C= (n.800-32C=)
| |