9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del
| ClinVar |
9 | g.101425410A= | CA1868278967 | ALDOB | c.799+43T= (n.799+43T=)
| |
9 | g.101425410A>T | CA5161465 | ALDOB | c.799+43T>A (n.799+43T>A)
| dbSNP ExAC gnomAD v2 |
9 | g.101425411T>G | CA2691007146 | ALDOB | c.799+42A>C (n.799+42A>C)
| gnomAD v4 |
9 | g.101425412G>A | CA1868278970 | ALDOB | c.799+41C>T (n.799+41C>T)
| dbSNP gnomAD v4 |
9 | g.101425412G= | CA1868278969 | ALDOB | c.799+41C= (n.799+41C=)
| |
9 | g.101425414G>T | CA2691007147 | ALDOB | c.799+39C>A (n.799+39C>A)
| gnomAD v4 |
9 | g.101425415G>A | CA2691007148 | ALDOB | c.799+38C>T (n.799+38C>T)
| gnomAD v4 |
9 | g.101425415G>T | CA2691007149 | ALDOB | c.799+38C>A (n.799+38C>A)
| gnomAD v4 |
9 | g.101425416G>C | CA196956730 | ALDOB | c.799+37C>G (n.799+37C>G)
| dbSNP gnomAD v4 |
9 | g.101425416G= | CA1868278971 | ALDOB | c.799+37C= (n.799+37C=)
| |
9 | g.101425417C>A | CA5161467 | ALDOB | c.799+36G>T (n.799+36G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425417C= | CA1868278974 | ALDOB | c.799+36G= (n.799+36G=)
| |
9 | g.101425417C>G | CA5161466 | ALDOB | c.799+36G>C (n.799+36G>C)
| dbSNP ExAC gnomAD v2 |
9 | g.101425417C>T | CA590045504 | ALDOB | c.799+36G>A (n.799+36G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425418T>C | CA2785321935 | ALDOB | c.799+35A>G (n.799+35A>G)
| |
9 | g.101425419A>G | CA2691007150 | ALDOB | c.799+34T>C (n.799+34T>C)
| gnomAD v4 |
9 | g.101425420A= | CA1868278976 | ALDOB | c.799+33T= (n.799+33T=)
| |
9 | g.101425420A>T | CA590045505 | ALDOB | c.799+33T>A (n.799+33T>A)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425422A>T | CA2691007151 | ALDOB | c.799+31T>A (n.799+31T>A)
| gnomAD v4 |
9 | g.101425424dup | CA2691007152 | ALDOB | c.799+30dup (n.799+30dup)
| gnomAD v4 |
9 | g.101425424C>A | CA590045506 | ALDOB | c.799+29G>T (n.799+29G>T)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425424C= | CA1868278978 | ALDOB | c.799+29G= (n.799+29G=)
| |
9 | g.101425424C>T | CA590045507 | ALDOB | c.799+29G>A (n.799+29G>A)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425425T>C | CA5161468 | ALDOB | c.799+28A>G (n.799+28A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425425T= | CA1868278980 | ALDOB | c.799+28A= (n.799+28A=)
| |
9 | g.101425426T>G | CA2579403643 | ALDOB | c.799+27A>C (n.799+27A>C)
| gnomAD v4 |
9 | g.101425427G>C | CA590045508 | ALDOB | c.799+26C>G (n.799+26C>G)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425427G= | CA1868278981 | ALDOB | c.799+26C= (n.799+26C=)
| |
9 | g.101425428A= | CA1868278983 | ALDOB | c.799+25T= (n.799+25T=)
| |
9 | g.101425428A>C | CA590045509 | ALDOB | c.799+25T>G (n.799+25T>G)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425428A>G | CA2691007153 | ALDOB | c.799+25T>C (n.799+25T>C)
| gnomAD v4 |
9 | g.101425428A>T | CA5161469 | ALDOB | c.799+25T>A (n.799+25T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425429G>A | CA5161470 | ALDOB | c.799+24C>T (n.799+24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425429G= | CA1868278985 | ALDOB | c.799+24C= (n.799+24C=)
| |
9 | g.101425429G>T | CA2691007154 | ALDOB | c.799+24C>A (n.799+24C>A)
| gnomAD v4 |
9 | g.101425433G>C | CA5161471 | ALDOB | c.799+20C>G (n.799+20C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425433G= | CA1868278986 | ALDOB | c.799+20C= (n.799+20C=)
| |
9 | g.101425434A= | CA1868278988 | ALDOB | c.799+19T= (n.799+19T=)
| |
9 | g.101425434A>G | CA2579403644 | ALDOB | c.799+19T>C (n.799+19T>C)
| |
9 | g.101425434A>T | CA5161472 | ALDOB | c.799+19T>A (n.799+19T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425436A= | CA1868278991 | ALDOB | c.799+17T= (n.799+17T=)
| |
9 | g.101425436A>G | CA1868278992 | ALDOB | c.799+17T>C (n.799+17T>C)
| ClinVar dbSNP gnomAD v4 |
9 | g.101425437A>G | CA2691007155 | ALDOB | c.799+16T>C (n.799+16T>C)
| ClinVar gnomAD v4 |
9 | g.101425439A>C | CA2579403645 | ALDOB | c.799+14T>G (n.799+14T>G)
| |
9 | g.101425439A>G | CA2579403646 | ALDOB | c.799+14T>C (n.799+14T>C)
| |
9 | g.101425439A>T | CA2785321936 | ALDOB | c.799+14T>A (n.799+14T>A)
| |
9 | g.101425443_101425445dup | CA2691007156 | ALDOB | c.799+11_799+13dup (n.799+11_799+13dup)
| gnomAD v4 |
9 | g.101425441A>T | CA2691007157 | ALDOB | c.799+12T>A (n.799+12T>A)
| gnomAD v4 |
9 | g.101425442G>A | CA5161473 | ALDOB | c.799+11C>T (n.799+11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425442G>C | CA2691007158 | ALDOB | c.799+11C>G (n.799+11C>G)
| gnomAD v4 |
9 | g.101425442G= | CA1868278995 | ALDOB | c.799+11C= (n.799+11C=)
| |
9 | g.101425443A= | CA1868278998 | ALDOB | c.799+10T= (n.799+10T=)
| |
9 | g.101425443A>G | CA1127396849 | ALDOB | c.799+10T>C (n.799+10T>C)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425444dup | CA590045510 | ALDOB | c.799+10dup (n.799+10dup)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425444A>C | CA2691007159 | ALDOB | c.799+9T>G (n.799+9T>G)
| gnomAD v4 |
9 | g.101425445G>A | CA2691007160 | ALDOB | c.799+8C>T (n.799+8C>T)
| gnomAD v4 |
9 | g.101425446G>A | CA590045511 | ALDOB | c.799+7C>T (n.799+7C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425446G= | CA1868279000 | ALDOB | c.799+7C= (n.799+7C=)
| |
9 | g.101425447C= | CA1868279002 | ALDOB | c.799+6G= (n.799+6G=)
| |
9 | g.101425447C>T | CA5161474 | ALDOB | c.799+6G>A (n.799+6G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425448C= | CA1868279005 | ALDOB | c.799+5G= (n.799+5G=)
| |
9 | g.101425448C>T | CA196956743 | ALDOB | c.799+5G>A (n.799+5G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425451A>C | CA374264606 | ALDOB | c.799+2T>G (n.799+2T>G)
| |
9 | g.101425451A>G | CA374264607 | ALDOB | c.799+2T>C (n.799+2T>C)
| ClinVar gnomAD v4 |
9 | g.101425451A>T | CA374264608 | ALDOB | c.799+2T>A (n.799+2T>A)
| ClinVar dbSNP |
9 | g.101425452C>A | CA374264609 | ALDOB | c.799+1G>T (n.799+1G>T)
| |
9 | g.101425452C>G | CA374264610 | ALDOB | c.799+1G>C (n.799+1G>C)
| gnomAD v4 |
9 | g.101425452C>T | CA374264611 | ALDOB | c.799+1G>A (n.799+1G>A)
| ClinVar |
9 | g.101425453C>A | CA374264613 | ALDOB | c.799G>T (p.Gly267Cys)
| |
9 | g.101425453C= | CA1868279008 | ALDOB | c.799G= (p.Gly267=)
| |
9 | g.101425453C>G | CA5161475 | ALDOB | c.799G>C (p.Gly267Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425453C>T | CA374264612 | ALDOB | c.799G>A (p.Gly267Ser)
| |
9 | g.101425462_101425473dup | CA2720258646 | ALDOB | c.788_799dup (p.Pro266_Gly267insAlaAlaValPro)
| dbSNP |
9 | g.101425454A>C | CA466461967 | ALDOB | c.798T>G (p.Pro266=)
| |
9 | g.101425454A>G | CA466461969 | ALDOB | c.798T>C (p.Pro266=)
| |
9 | g.101425454A>T | CA466461968 | ALDOB | c.798T>A (p.Pro266=)
| gnomAD v4 |
9 | g.101425454dup | CA2840901051 | ALDOB | c.798dup (p.Gly267TrpfsTer11)
| |
9 | g.101425455G>A | CA196956747 | ALDOB | c.797C>T (p.Pro266Leu)
| dbSNP gnomAD v4 |
9 | g.101425455G>C | CA374264614 | ALDOB | c.797C>G (p.Pro266Arg)
| |
9 | g.101425455G= | CA1868279010 | ALDOB | c.797C= (p.Pro266=)
| |
9 | g.101425455G>T | CA374264615 | ALDOB | c.797C>A (p.Pro266His)
| |
9 | g.101425456del | CA2720258730 | ALDOB | c.797del (p.Pro266LeufsTer10)
| dbSNP |
9 | g.101425456G>A | CA374264616 | ALDOB | c.796C>T (p.Pro266Ser)
| |
9 | g.101425456G>C | CA374264617 | ALDOB | c.796C>G (p.Pro266Ala)
| |
9 | g.101425456G>T | CA374264618 | ALDOB | c.796C>A (p.Pro266Thr)
| |
9 | g.101425457A= | CA1868279013 | ALDOB | c.795T= (p.Val265=)
| |
9 | g.101425457A>C | CA466461970 | ALDOB | c.795T>G (p.Val265=)
| |
9 | g.101425457A>G | CA466461971 | ALDOB | c.795T>C (p.Val265=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425457A>T | CA466461972 | ALDOB | c.795T>A (p.Val265=)
| |
9 | g.101425458A>C | CA374264621 | ALDOB | c.794T>G (p.Val265Gly)
| |
9 | g.101425458A>G | CA374264620 | ALDOB | c.794T>C (p.Val265Ala)
| ClinVar |
9 | g.101425458A>T | CA374264619 | ALDOB | c.794T>A (p.Val265Asp)
| gnomAD v4 |
9 | g.101425459C>A | CA374264622 | ALDOB | c.793G>T (p.Val265Phe)
| |
9 | g.101425459C>G | CA374264623 | ALDOB | c.793G>C (p.Val265Leu)
| gnomAD v4 |
9 | g.101425459C>T | CA374264624 | ALDOB | c.793G>A (p.Val265Ile)
| |
9 | g.101425460A>C | CA466461973 | ALDOB | c.792T>G (p.Ala264=)
| |
9 | g.101425460A>G | CA466461974 | ALDOB | c.792T>C (p.Ala264=)
| gnomAD v4 |
9 | g.101425460A>T | CA466461975 | ALDOB | c.792T>A (p.Ala264=)
| |
9 | g.101425461G>A | CA5161476 | ALDOB | c.791C>T (p.Ala264Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425461G>C | CA374264625 | ALDOB | c.791C>G (p.Ala264Gly)
| |
9 | g.101425461G= | CA1868279015 | ALDOB | c.791C= (p.Ala264=)
| |
9 | g.101425461G>T | CA374264626 | ALDOB | c.791C>A (p.Ala264Asp)
| |
9 | g.101425462C>A | CA374264627 | ALDOB | c.790G>T (p.Ala264Ser)
| |
9 | g.101425462C>G | CA374264629 | ALDOB | c.790G>C (p.Ala264Pro)
| |
9 | g.101425462C>T | CA374264628 | ALDOB | c.790G>A (p.Ala264Thr)
| |
9 | g.101425463T>A | CA466461976 | ALDOB | c.789A>T (p.Ala263=)
| |
9 | g.101425463T>C | CA466461977 | ALDOB | c.789A>G (p.Ala263=)
| |
9 | g.101425463T>G | CA466461978 | ALDOB | c.789A>C (p.Ala263=)
| |
9 | g.101425464G>A | CA374264630 | ALDOB | c.788C>T (p.Ala263Val)
| |
9 | g.101425464G>C | CA374264631 | ALDOB | c.788C>G (p.Ala263Gly)
| |
9 | g.101425464G>T | CA374264632 | ALDOB | c.788C>A (p.Ala263Glu)
| |
9 | g.101425465C>A | CA374264633 | ALDOB | c.787G>T (p.Ala263Ser)
| gnomAD v4 |
9 | g.101425465C= | CA1868279016 | ALDOB | c.787G= (p.Ala263=)
| |
9 | g.101425465C>G | CA374264634 | ALDOB | c.787G>C (p.Ala263Pro)
| |
9 | g.101425465C>T | CA374264635 | ALDOB | c.787G>A (p.Ala263Thr)
| dbSNP gnomAD v4 |
9 | g.101425466A= | CA1868279018 | ALDOB | c.786T= (p.Pro262=)
| |
9 | g.101425466A>C | CA466461979 | ALDOB | c.786T>G (p.Pro262=)
| |
9 | g.101425466A>G | CA466461981 | ALDOB | c.786T>C (p.Pro262=)
| |
9 | g.101425466A>T | CA466461980 | ALDOB | c.786T>A (p.Pro262=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425467G>A | CA374264636 | ALDOB | c.785C>T (p.Pro262Leu)
| |
9 | g.101425467G>C | CA374264637 | ALDOB | c.785C>G (p.Pro262Arg)
| |
9 | g.101425467G>T | CA374264638 | ALDOB | c.785C>A (p.Pro262His)
| gnomAD v4 |
9 | g.101425468G>A | CA374264639 | ALDOB | c.784C>T (p.Pro262Ser)
| |
9 | g.101425468G>C | CA374264640 | ALDOB | c.784C>G (p.Pro262Ala)
| |
9 | g.101425468G>T | CA374264641 | ALDOB | c.784C>A (p.Pro262Thr)
| |
9 | g.101425469A>C | CA466461982 | ALDOB | c.783T>G (p.Val261=)
| |
9 | g.101425469A>G | CA466461983 | ALDOB | c.783T>C (p.Val261=)
| |
9 | g.101425469A>T | CA466461984 | ALDOB | c.783T>A (p.Val261=)
| |
9 | g.101425470A>C | CA374264643 | ALDOB | c.782T>G (p.Val261Gly)
| |
9 | g.101425470A>G | CA374264644 | ALDOB | c.782T>C (p.Val261Ala)
| |
9 | g.101425470A>T | CA374264642 | ALDOB | c.782T>A (p.Val261Asp)
| |
9 | g.101425471C>A | CA374264645 | ALDOB | c.781G>T (p.Val261Phe)
| |
9 | g.101425471C>G | CA374264647 | ALDOB | c.781G>C (p.Val261Leu)
| gnomAD v4 |
9 | g.101425471C>T | CA374264646 | ALDOB | c.781G>A (p.Val261Ile)
| gnomAD v4 |
9 | g.101425472A= | CA1868279020 | ALDOB | c.780T= (p.Thr260=)
| |
9 | g.101425472A>C | CA466461985 | ALDOB | c.780T>G (p.Thr260=)
| |
9 | g.101425472A>G | CA196956750 | ALDOB | c.780T>C (p.Thr260=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425472A>T | CA466461986 | ALDOB | c.780T>A (p.Thr260=)
| |
9 | g.101425473G>A | CA374264648 | ALDOB | c.779C>T (p.Thr260Ile)
| |
9 | g.101425473G>C | CA374264649 | ALDOB | c.779C>G (p.Thr260Ser)
| |
9 | g.101425473G>T | CA374264650 | ALDOB | c.779C>A (p.Thr260Asn)
| |
9 | g.101425474T>A | CA196956752 | ALDOB | c.778A>T (p.Thr260Ser)
| dbSNP |
9 | g.101425474T>C | CA374264651 | ALDOB | c.778A>G (p.Thr260Ala)
| |
9 | g.101425474T>G | CA374264652 | ALDOB | c.778A>C (p.Thr260Pro)
| |
9 | g.101425474T= | CA1868279022 | ALDOB | c.778A= (p.Thr260=)
| |
9 | g.101425475A= | CA1868279024 | ALDOB | c.777T= (p.Arg259=)
| |
9 | g.101425475A>C | CA466461988 | ALDOB | c.777T>G (p.Arg259=)
| |
9 | g.101425475A>G | CA466461989 | ALDOB | c.777T>C (p.Arg259=)
| |
9 | g.101425475A>T | CA466461987 | ALDOB | c.777T>A (p.Arg259=)
| dbSNP |
9 | g.101425476C>A | CA374264653 | ALDOB | c.776G>T (p.Arg259Leu)
| |
9 | g.101425476C= | CA1868279026 | ALDOB | c.776G= (p.Arg259=)
| |
9 | g.101425476C>G | CA374264654 | ALDOB | c.776G>C (p.Arg259Pro)
| |
9 | g.101425476C>T | CA5161477 | ALDOB | c.776G>A (p.Arg259His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425477G>A | CA5161478 | ALDOB | c.775C>T (p.Arg259Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101425477G>C | CA374264655 | ALDOB | c.775C>G (p.Arg259Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425477G= | CA1868279028 | ALDOB | c.775C= (p.Arg259=)
| |
9 | g.101425477G>T | CA374264656 | ALDOB | c.775C>A (p.Arg259Ser)
| dbSNP |
9 | g.101425478G>A | CA466461990 | ALDOB | c.774C>T (p.His258=)
| ClinVar dbSNP |
9 | g.101425478G>C | CA374264657 | ALDOB | c.774C>G (p.His258Gln)
| |
9 | g.101425478G= | CA1868279030 | ALDOB | c.774C= (p.His258=)
| |
9 | g.101425478G>T | CA374264658 | ALDOB | c.774C>A (p.His258Gln)
| |
9 | g.101425479T>A | CA374264659 | ALDOB | c.773A>T (p.His258Leu)
| |
9 | g.101425479T>C | CA374264660 | ALDOB | c.773A>G (p.His258Arg)
| |
9 | g.101425479T>G | CA374264661 | ALDOB | c.773A>C (p.His258Pro)
| |
9 | g.101425480G>A | CA374264662 | ALDOB | c.772C>T (p.His258Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425480G>C | CA5161479 | ALDOB | c.772C>G (p.His258Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425480G= | CA1868279032 | ALDOB | c.772C= (p.His258=)
| |
9 | g.101425480G>T | CA374264663 | ALDOB | c.772C>A (p.His258Asn)
| dbSNP gnomAD v4 |
9 | g.101425481G>A | CA466461991 | ALDOB | c.771C>T (p.Leu257=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425481G>C | CA466461992 | ALDOB | c.771C>G (p.Leu257=)
| dbSNP |
9 | g.101425481G= | CA1868279034 | ALDOB | c.771C= (p.Leu257=)
| |
9 | g.101425481G>T | CA466461993 | ALDOB | c.771C>A (p.Leu257=)
| |
9 | g.101425482A= | CA1868279036 | ALDOB | c.770T= (p.Leu257=)
| |
9 | g.101425482A>C | CA374264664 | ALDOB | c.770T>G (p.Leu257Arg)
| |
9 | g.101425482A>G | CA5161480 | ALDOB | c.770T>C (p.Leu257Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425482A>T | CA374264665 | ALDOB | c.770T>A (p.Leu257His)
| |
9 | g.101425483G>A | CA374264666 | ALDOB | c.769C>T (p.Leu257Phe)
| |
9 | g.101425483G>C | CA374264667 | ALDOB | c.769C>G (p.Leu257Val)
| dbSNP |
9 | g.101425483G= | CA1868279038 | ALDOB | c.769C= (p.Leu257=)
| |
9 | g.101425483G>T | CA374264668 | ALDOB | c.769C>A (p.Leu257Ile)
| |
9 | g.101425484A= | CA1868279040 | ALDOB | c.768T= (p.Ala256=)
| |
9 | g.101425484A>C | CA466461994 | ALDOB | c.768T>G (p.Ala256=)
| |
9 | g.101425484A>G | CA466461995 | ALDOB | c.768T>C (p.Ala256=)
| dbSNP gnomAD v4 |
9 | g.101425484A>T | CA466461996 | ALDOB | c.768T>A (p.Ala256=)
| |
9 | g.101425485G>A | CA374264669 | ALDOB | c.767C>T (p.Ala256Val)
| gnomAD v4 |
9 | g.101425485G>C | CA374264671 | ALDOB | c.767C>G (p.Ala256Gly)
| |
9 | g.101425485G>T | CA374264670 | ALDOB | c.767C>A (p.Ala256Asp)
| |
9 | g.101425486C>A | CA5161481 | ALDOB | c.766G>T (p.Ala256Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425486C= | CA1868279043 | ALDOB | c.766G= (p.Ala256=)
| |
9 | g.101425486C>G | CA374264672 | ALDOB | c.766G>C (p.Ala256Pro)
| |
9 | g.101425486C>T | CA374264673 | ALDOB | c.766G>A (p.Ala256Thr)
| dbSNP gnomAD v4 |
9 | g.101425487T>A | CA466461997 | ALDOB | c.765A>T (p.Thr255=)
| dbSNP |
9 | g.101425487T>C | CA466461998 | ALDOB | c.765A>G (p.Thr255=)
| |
9 | g.101425487T>G | CA466461999 | ALDOB | c.765A>C (p.Thr255=)
| |
9 | g.101425487T= | CA1868279045 | ALDOB | c.765A= (p.Thr255=)
| |
9 | g.101425488G>A | CA374264674 | ALDOB | c.764C>T (p.Thr255Ile)
| gnomAD v4 |
9 | g.101425488G>C | CA196956763 | ALDOB | c.764C>G (p.Thr255Arg)
| dbSNP |
9 | g.101425488G= | CA1868279047 | ALDOB | c.764C= (p.Thr255=)
| |
9 | g.101425488G>T | CA374264675 | ALDOB | c.764C>A (p.Thr255Lys)
| |
9 | g.101425489T>A | CA374264676 | ALDOB | c.763A>T (p.Thr255Ser)
| |
9 | g.101425489T>C | CA374264677 | ALDOB | c.763A>G (p.Thr255Ala)
| |
9 | g.101425489T>G | CA374264678 | ALDOB | c.763A>C (p.Thr255Pro)
| |
9 | g.101425490T>A | CA466462000 | ALDOB | c.762A>T (p.Val254=)
| |
9 | g.101425490T>C | CA466462001 | ALDOB | c.762A>G (p.Val254=)
| |
9 | g.101425490T>G | CA466462002 | ALDOB | c.762A>C (p.Val254=)
| ClinVar dbSNP |
9 | g.101425490T= | CA1868279049 | ALDOB | c.762A= (p.Val254=)
| |
9 | g.101425491A>C | CA374264679 | ALDOB | c.761T>G (p.Val254Gly)
| |
9 | g.101425491A>G | CA374264680 | ALDOB | c.761T>C (p.Val254Ala)
| |
9 | g.101425491A>T | CA374264681 | ALDOB | c.761T>A (p.Val254Glu)
| |
9 | g.101425491dup | CA2499219517 | ALDOB | c.761dup (p.Thr255AsnfsTer23)
| ClinVar dbSNP |
9 | g.101425492C>A | CA374264683 | ALDOB | c.760G>T (p.Val254Leu)
| gnomAD v4 |
9 | g.101425492C= | CA1868279052 | ALDOB | c.760G= (p.Val254=)
| |
9 | g.101425492C>G | CA374264682 | ALDOB | c.760G>C (p.Val254Leu)
| |
9 | g.101425492C>T | CA5161482 | ALDOB | c.760G>A (p.Val254Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425493G>A | CA5161483 | ALDOB | c.759C>T (p.Thr253=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425493G>C | CA466462003 | ALDOB | c.759C>G (p.Thr253=)
| |
9 | g.101425493G= | CA1868279056 | ALDOB | c.759C= (p.Thr253=)
| |
9 | g.101425493G>T | CA5161484 | ALDOB | c.759C>A (p.Thr253=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425494G>A | CA196956776 | ALDOB | c.758C>T (p.Thr253Ile)
| dbSNP gnomAD v4 COSMIC |
9 | g.101425494G>C | CA374264684 | ALDOB | c.758C>G (p.Thr253Ser)
| |
9 | g.101425494G= | CA1868279058 | ALDOB | c.758C= (p.Thr253=)
| |
9 | g.101425494G>T | CA5161485 | ALDOB | c.758C>A (p.Thr253Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425495T>A | CA374264685 | ALDOB | c.757A>T (p.Thr253Ser)
| |
9 | g.101425495T>C | CA5161486 | ALDOB | c.757A>G (p.Thr253Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425495T>G | CA374264686 | ALDOB | c.757A>C (p.Thr253Pro)
| |
9 | g.101425495T= | CA1868279060 | ALDOB | c.757A= (p.Thr253=)
| |
9 | g.101425496G>A | CA466462004 | ALDOB | c.756C>T (p.Ala252=)
| ClinVar |
9 | g.101425496G>C | CA466462006 | ALDOB | c.756C>G (p.Ala252=)
| |
9 | g.101425496G= | CA1868279061 | ALDOB | c.756C= (p.Ala252=)
| |
9 | g.101425496G>T | CA466462005 | ALDOB | c.756C>A (p.Ala252=)
| dbSNP |
9 | g.101425497G>A | CA374264687 | ALDOB | c.755C>T (p.Ala252Val)
| |
9 | g.101425497G>C | CA374264688 | ALDOB | c.755C>G (p.Ala252Gly)
| |
9 | g.101425497G>T | CA374264689 | ALDOB | c.755C>A (p.Ala252Asp)
| |
9 | g.101425498C>A | CA374264692 | ALDOB | c.754G>T (p.Ala252Ser)
| |
9 | g.101425498C= | CA1868279063 | ALDOB | c.754G= (p.Ala252=)
| |
9 | g.101425498C>G | CA374264691 | ALDOB | c.754G>C (p.Ala252Pro)
| |
9 | g.101425498C>T | CA374264690 | ALDOB | c.754G>A (p.Ala252Thr)
| dbSNP |
9 | g.101425499C>A | CA374264693 | ALDOB | c.753G>T (p.Met251Ile)
| |
9 | g.101425499C= | CA1868279065 | ALDOB | c.753G= (p.Met251=)
| |
9 | g.101425499C>G | CA374264695 | ALDOB | c.753G>C (p.Met251Ile)
| |
9 | g.101425499C>T | CA374264694 | ALDOB | c.753G>A (p.Met251Ile)
| dbSNP |
9 | g.101425500A= | CA1868279067 | ALDOB | c.752T= (p.Met251=)
| |
9 | g.101425500A>C | CA374264696 | ALDOB | c.752T>G (p.Met251Arg)
| |
9 | g.101425500A>G | CA374264698 | ALDOB | c.752T>C (p.Met251Thr)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425500A>T | CA374264697 | ALDOB | c.752T>A (p.Met251Lys)
| |
9 | g.101425501T>A | CA374264699 | ALDOB | c.751A>T (p.Met251Leu)
| |
9 | g.101425501T>C | CA374264700 | ALDOB | c.751A>G (p.Met251Val)
| dbSNP gnomAD v4 |
9 | g.101425501T>G | CA374264701 | ALDOB | c.751A>C (p.Met251Leu)
| dbSNP gnomAD v4 |
9 | g.101425501T= | CA1868279069 | ALDOB | c.751A= (p.Met251=)
| |
9 | g.101425502A= | CA1868279071 | ALDOB | c.750T= (p.Ala250=)
| |
9 | g.101425502A>C | CA466462007 | ALDOB | c.750T>G (p.Ala250=)
| |
9 | g.101425502A>G | CA466462008 | ALDOB | c.750T>C (p.Ala250=)
| |
9 | g.101425502A>T | CA5161487 | ALDOB | c.750T>A (p.Ala250=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425503G>A | CA374264702 | ALDOB | c.749C>T (p.Ala250Val)
| |
9 | g.101425503G>C | CA374264703 | ALDOB | c.749C>G (p.Ala250Gly)
| |
9 | g.101425503G>T | CA374264704 | ALDOB | c.749C>A (p.Ala250Asp)
| |
9 | g.101425504C>A | CA5161488 | ALDOB | c.748G>T (p.Ala250Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425504C= | CA1868279073 | ALDOB | c.748G= (p.Ala250=)
| |
9 | g.101425504C>G | CA374264705 | ALDOB | c.748G>C (p.Ala250Pro)
| |
9 | g.101425504C>T | CA374264706 | ALDOB | c.748G>A (p.Ala250Thr)
| gnomAD v4 |
9 | g.101425505T>A | CA466462009 | ALDOB | c.747A>T (p.Val249=)
| |
9 | g.101425505T>C | CA196956781 | ALDOB | c.747A>G (p.Val249=)
| dbSNP |
9 | g.101425505T>G | CA466462010 | ALDOB | c.747A>C (p.Val249=)
| |
9 | g.101425505T= | CA1868279075 | ALDOB | c.747A= (p.Val249=)
| |
9 | g.101425506A>C | CA374264709 | ALDOB | c.746T>G (p.Val249Gly)
| |
9 | g.101425506A>G | CA374264708 | ALDOB | c.746T>C (p.Val249Ala)
| |
9 | g.101425506A>T | CA374264707 | ALDOB | c.746T>A (p.Val249Glu)
| |
9 | g.101425507C>A | CA374264710 | ALDOB | c.745G>T (p.Val249Leu)
| |
9 | g.101425507C>G | CA374264711 | ALDOB | c.745G>C (p.Val249Leu)
| |
9 | g.101425507C>T | CA374264712 | ALDOB | c.745G>A (p.Val249Ile)
| ClinVar |
9 | g.101425507_101425509delinsCTT | CA1868279077 | ALDOB | c.743_745delinsAAG (p.Gln248=)
| |
9 | g.101425508T>A | CA374264713 | ALDOB | c.744A>T (p.Gln248His)
| |
9 | g.101425508T>C | CA466462011 | ALDOB | c.744A>G (p.Gln248=)
| dbSNP |
9 | g.101425508T>G | CA374264714 | ALDOB | c.744A>C (p.Gln248His)
| |
9 | g.101425508T= | CA1868279079 | ALDOB | c.744A= (p.Gln248=)
| |
9 | g.101425508_101425509del | CA918520488 | ALDOB | c.743_744del (p.Gln248ArgfsTer29)
| dbSNP |
9 | g.101425509T>A | CA374264715 | ALDOB | c.743A>T (p.Gln248Leu)
| |
9 | g.101425509T>C | CA374264716 | ALDOB | c.743A>G (p.Gln248Arg)
| |
9 | g.101425509T>G | CA374264717 | ALDOB | c.743A>C (p.Gln248Pro)
| |
9 | g.101425510G>A | CA374264718 | ALDOB | c.742C>T (p.Gln248Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425510G>C | CA374264719 | ALDOB | c.742C>G (p.Gln248Glu)
| |
9 | g.101425510G= | CA1868279081 | ALDOB | c.742C= (p.Gln248=)
| |
9 | g.101425510G>T | CA374264720 | ALDOB | c.742C>A (p.Gln248Lys)
| dbSNP |