Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99420529T>C | CA102645737 | ADH7 | c.825+4A>G (n.825+4A>G) c.861+4A>G (n.861+4A>G) c.885+4A>G (n.885+4A>G) c.654+4A>G (n.654+4A>G) | dbSNP gnomAD v4 |
4 | g.99420529T= | CA1479993762 | ADH7 | c.825+4A= (n.825+4A=) c.861+4A= (n.861+4A=) c.885+4A= (n.885+4A=) c.654+4A= (n.654+4A=) | |
4 | g.99420531A>C | CA357497340 | ADH7 | c.825+2T>G (n.825+2T>G) c.861+2T>G (n.861+2T>G) c.885+2T>G (n.885+2T>G) c.654+2T>G (n.654+2T>G) | |
4 | g.99420531A>G | CA357497339 | ADH7 | c.825+2T>C (n.825+2T>C) c.861+2T>C (n.861+2T>C) c.885+2T>C (n.885+2T>C) c.654+2T>C (n.654+2T>C) | |
4 | g.99420531A>T | CA357497341 | ADH7 | c.825+2T>A (n.825+2T>A) c.861+2T>A (n.861+2T>A) c.885+2T>A (n.885+2T>A) c.654+2T>A (n.654+2T>A) | |
4 | g.99420532C>A | CA357497342 | ADH7 | c.825+1G>T (n.825+1G>T) c.861+1G>T (n.861+1G>T) c.885+1G>T (n.885+1G>T) c.654+1G>T (n.654+1G>T) | dbSNP gnomAD v4 |
4 | g.99420532C= | CA1479993764 | ADH7 | c.825+1G= (n.825+1G=) c.861+1G= (n.861+1G=) c.885+1G= (n.885+1G=) c.654+1G= (n.654+1G=) | |
4 | g.99420532C>G | CA357497343 | ADH7 | c.825+1G>C (n.825+1G>C) c.861+1G>C (n.861+1G>C) c.885+1G>C (n.885+1G>C) c.654+1G>C (n.654+1G>C) | |
4 | g.99420532C>T | CA102645738 | ADH7 | c.825+1G>A (n.825+1G>A) c.861+1G>A (n.861+1G>A) c.885+1G>A (n.885+1G>A) c.654+1G>A (n.654+1G>A) | dbSNP gnomAD v4 |
4 | g.99420533C>A | CA102645742 | ADH7 | c.825G>T (p.Met275Ile) c.861G>T (p.Met287Ile) c.885G>T (p.Met295Ile) c.654G>T (p.Met218Ile) | dbSNP gnomAD v4 |
4 | g.99420533C= | CA1479993767 | ADH7 | c.825G= (p.Met275=) c.861G= (p.Met287=) c.885G= (p.Met295=) c.654G= (p.Met218=) | |
4 | g.99420533C>G | CA357497344 | ADH7 | c.825G>C (p.Met275Ile) c.861G>C (p.Met287Ile) c.885G>C (p.Met295Ile) c.654G>C (p.Met218Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420533C>T | CA357497345 | ADH7 | c.825G>A (p.Met275Ile) c.861G>A (p.Met287Ile) c.885G>A (p.Met295Ile) c.654G>A (p.Met218Ile) | |
4 | g.99420533_99420545delinsCATGGTTTCAAGA | CA1479993766 | ADH7 | c.813_825delinsTCTTGAAACCATG (p.His271=) c.849_861delinsTCTTGAAACCATG (p.His283=) c.873_885delinsTCTTGAAACCATG (p.His291=) c.642_654delinsTCTTGAAACCATG (p.His214=) | |
4 | g.99420534A= | CA1479993772 | ADH7 | c.824T= (p.Met275=) c.860T= (p.Met287=) c.884T= (p.Met295=) c.653T= (p.Met218=) | |
4 | g.99420534A>C | CA357497346 | ADH7 | c.824T>G (p.Met275Arg) c.860T>G (p.Met287Arg) c.884T>G (p.Met295Arg) c.653T>G (p.Met218Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420534A>G | CA3020724 | ADH7 | c.824T>C (p.Met275Thr) c.860T>C (p.Met287Thr) c.884T>C (p.Met295Thr) c.653T>C (p.Met218Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420534A>T | CA357497347 | ADH7 | c.824T>A (p.Met275Lys) c.860T>A (p.Met287Lys) c.884T>A (p.Met295Lys) c.653T>A (p.Met218Lys) | |
4 | g.99420534_99420545del | CA3020723 | ADH7 | c.813_824del (p.His271_Met275delinsGln) c.849_860del (p.His283_Met287delinsGln) c.873_884del (p.His291_Met295delinsGln) c.642_653del (p.His214_Met218delinsGln) | dbSNP ExAC gnomAD v4 |
4 | g.99420535T>A | CA357497348 | ADH7 | c.823A>T (p.Met275Leu) c.859A>T (p.Met287Leu) c.883A>T (p.Met295Leu) c.652A>T (p.Met218Leu) | |
4 | g.99420535T>C | CA357497349 | ADH7 | c.823A>G (p.Met275Val) c.859A>G (p.Met287Val) c.883A>G (p.Met295Val) c.652A>G (p.Met218Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420535T>G | CA357497350 | ADH7 | c.823A>C (p.Met275Leu) c.859A>C (p.Met287Leu) c.883A>C (p.Met295Leu) c.652A>C (p.Met218Leu) | dbSNP |
4 | g.99420535T= | CA1479993774 | ADH7 | c.823A= (p.Met275=) c.859A= (p.Met287=) c.883A= (p.Met295=) c.652A= (p.Met218=) | |
4 | g.99420536G>A | CA440506350 | ADH7 | c.822C>T (p.Thr274=) c.858C>T (p.Thr286=) c.882C>T (p.Thr294=) c.651C>T (p.Thr217=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420536G>C | CA440506351 | ADH7 | c.822C>G (p.Thr274=) c.858C>G (p.Thr286=) c.882C>G (p.Thr294=) c.651C>G (p.Thr217=) | |
4 | g.99420536G= | CA1479993775 | ADH7 | c.822C= (p.Thr274=) c.858C= (p.Thr286=) c.882C= (p.Thr294=) c.651C= (p.Thr217=) | |
4 | g.99420536G>T | CA440506352 | ADH7 | c.822C>A (p.Thr274=) c.858C>A (p.Thr286=) c.882C>A (p.Thr294=) c.651C>A (p.Thr217=) | |
4 | g.99420537G>A | CA357497351 | ADH7 | c.821C>T (p.Thr274Ile) c.857C>T (p.Thr286Ile) c.881C>T (p.Thr294Ile) c.650C>T (p.Thr217Ile) | gnomAD v4 |
4 | g.99420537G>C | CA357497352 | ADH7 | c.821C>G (p.Thr274Ser) c.857C>G (p.Thr286Ser) c.881C>G (p.Thr294Ser) c.650C>G (p.Thr217Ser) | dbSNP |
4 | g.99420537G= | CA1479993779 | ADH7 | c.821C= (p.Thr274=) c.857C= (p.Thr286=) c.881C= (p.Thr294=) c.650C= (p.Thr217=) | |
4 | g.99420537G>T | CA357497353 | ADH7 | c.821C>A (p.Thr274Asn) c.857C>A (p.Thr286Asn) c.881C>A (p.Thr294Asn) c.650C>A (p.Thr217Asn) | |
4 | g.99420538T>A | CA357497354 | ADH7 | c.820A>T (p.Thr274Ser) c.856A>T (p.Thr286Ser) c.880A>T (p.Thr294Ser) c.649A>T (p.Thr217Ser) | |
4 | g.99420538T>C | CA357497356 | ADH7 | c.820A>G (p.Thr274Ala) c.856A>G (p.Thr286Ala) c.880A>G (p.Thr294Ala) c.649A>G (p.Thr217Ala) | |
4 | g.99420538T>G | CA357497355 | ADH7 | c.820A>C (p.Thr274Pro) c.856A>C (p.Thr286Pro) c.880A>C (p.Thr294Pro) c.649A>C (p.Thr217Pro) | |
4 | g.99420539T>A | CA357497357 | ADH7 | c.819A>T (p.Glu273Asp) c.855A>T (p.Glu285Asp) c.879A>T (p.Glu293Asp) c.648A>T (p.Glu216Asp) | |
4 | g.99420539T>C | CA440506353 | ADH7 | c.819A>G (p.Glu273=) c.855A>G (p.Glu285=) c.879A>G (p.Glu293=) c.648A>G (p.Glu216=) | |
4 | g.99420539T>G | CA357497358 | ADH7 | c.819A>C (p.Glu273Asp) c.855A>C (p.Glu285Asp) c.879A>C (p.Glu293Asp) c.648A>C (p.Glu216Asp) | |
4 | g.99420540T>A | CA357497359 | ADH7 | c.818A>T (p.Glu273Val) c.854A>T (p.Glu285Val) c.878A>T (p.Glu293Val) c.647A>T (p.Glu216Val) | |
4 | g.99420540T>C | CA357497360 | ADH7 | c.818A>G (p.Glu273Gly) c.854A>G (p.Glu285Gly) c.878A>G (p.Glu293Gly) c.647A>G (p.Glu216Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420540T>G | CA357497361 | ADH7 | c.818A>C (p.Glu273Ala) c.854A>C (p.Glu285Ala) c.878A>C (p.Glu293Ala) c.647A>C (p.Glu216Ala) | |
4 | g.99420540T= | CA1479993783 | ADH7 | c.818A= (p.Glu273=) c.854A= (p.Glu285=) c.878A= (p.Glu293=) c.647A= (p.Glu216=) | |
4 | g.99420541C>A | CA357497362 | ADH7 | c.817G>T (p.Glu273Ter) c.853G>T (p.Glu285Ter) c.877G>T (p.Glu293Ter) c.646G>T (p.Glu216Ter) | |
4 | g.99420541C= | CA1479993785 | ADH7 | c.817G= (p.Glu273=) c.853G= (p.Glu285=) c.877G= (p.Glu293=) c.646G= (p.Glu216=) | |
4 | g.99420541C>G | CA357497363 | ADH7 | c.817G>C (p.Glu273Gln) c.853G>C (p.Glu285Gln) c.877G>C (p.Glu293Gln) c.646G>C (p.Glu216Gln) | |
4 | g.99420541C>T | CA357497364 | ADH7 | c.817G>A (p.Glu273Lys) c.853G>A (p.Glu285Lys) c.877G>A (p.Glu293Lys) c.646G>A (p.Glu216Lys) | dbSNP gnomAD v4 |
4 | g.99420542A>C | CA440506354 | ADH7 | c.816T>G (p.Leu272=) c.852T>G (p.Leu284=) c.876T>G (p.Leu292=) c.645T>G (p.Leu215=) | |
4 | g.99420542A>G | CA440506355 | ADH7 | c.816T>C (p.Leu272=) c.852T>C (p.Leu284=) c.876T>C (p.Leu292=) c.645T>C (p.Leu215=) | |
4 | g.99420542A>T | CA440506356 | ADH7 | c.816T>A (p.Leu272=) c.852T>A (p.Leu284=) c.876T>A (p.Leu292=) c.645T>A (p.Leu215=) | gnomAD v4 |
4 | g.99420543A= | CA1479993789 | ADH7 | c.815T= (p.Leu272=) c.851T= (p.Leu284=) c.875T= (p.Leu292=) c.644T= (p.Leu215=) | |
4 | g.99420543A>C | CA357497365 | ADH7 | c.815T>G (p.Leu272Arg) c.851T>G (p.Leu284Arg) c.875T>G (p.Leu292Arg) c.644T>G (p.Leu215Arg) | |
4 | g.99420543A>G | CA3020725 | ADH7 | c.815T>C (p.Leu272Pro) c.851T>C (p.Leu284Pro) c.875T>C (p.Leu292Pro) c.644T>C (p.Leu215Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420543A>T | CA357497366 | ADH7 | c.815T>A (p.Leu272His) c.851T>A (p.Leu284His) c.875T>A (p.Leu292His) c.644T>A (p.Leu215His) | |
4 | g.99420544G>A | CA357497369 | ADH7 | c.814C>T (p.Leu272Phe) c.850C>T (p.Leu284Phe) c.874C>T (p.Leu292Phe) c.643C>T (p.Leu215Phe) | |
4 | g.99420544G>C | CA357497368 | ADH7 | c.814C>G (p.Leu272Val) c.850C>G (p.Leu284Val) c.874C>G (p.Leu292Val) c.643C>G (p.Leu215Val) | gnomAD v4 |
4 | g.99420544G>T | CA357497367 | ADH7 | c.814C>A (p.Leu272Ile) c.850C>A (p.Leu284Ile) c.874C>A (p.Leu292Ile) c.643C>A (p.Leu215Ile) | |
4 | g.99420545A>C | CA357497371 | ADH7 | c.813T>G (p.His271Gln) c.849T>G (p.His283Gln) c.873T>G (p.His291Gln) c.642T>G (p.His214Gln) | |
4 | g.99420545A>G | CA440506357 | ADH7 | c.813T>C (p.His271=) c.849T>C (p.His283=) c.873T>C (p.His291=) c.642T>C (p.His214=) | |
4 | g.99420545A>T | CA357497370 | ADH7 | c.813T>A (p.His271Gln) c.849T>A (p.His283Gln) c.873T>A (p.His291Gln) c.642T>A (p.His214Gln) | |
4 | g.99420546T>A | CA357497372 | ADH7 | c.812A>T (p.His271Leu) c.848A>T (p.His283Leu) c.872A>T (p.His291Leu) c.641A>T (p.His214Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420546T>C | CA3020726 | ADH7 | c.812A>G (p.His271Arg) c.848A>G (p.His283Arg) c.872A>G (p.His291Arg) c.641A>G (p.His214Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420546T>G | CA357497373 | ADH7 | c.812A>C (p.His271Pro) c.848A>C (p.His283Pro) c.872A>C (p.His291Pro) c.641A>C (p.His214Pro) | |
4 | g.99420546T= | CA1479993795 | ADH7 | c.812A= (p.His271=) c.848A= (p.His283=) c.872A= (p.His291=) c.641A= (p.His214=) | |
4 | g.99420546_99420547insAACTT | CA2671525107 | ADH7 | c.812_813insAGTTA (p.His271GlnfsTer7) c.848_849insAGTTA (p.His283GlnfsTer7) c.872_873insAGTTA (p.His291GlnfsTer7) c.641_642insAGTTA (p.His214GlnfsTer7) | gnomAD v4 |
4 | g.99420547G>A | CA357497374 | ADH7 | c.811C>T (p.His271Tyr) c.847C>T (p.His283Tyr) c.871C>T (p.His291Tyr) c.640C>T (p.His214Tyr) | |
4 | g.99420547G>C | CA357497375 | ADH7 | c.811C>G (p.His271Asp) c.847C>G (p.His283Asp) c.871C>G (p.His291Asp) c.640C>G (p.His214Asp) | |
4 | g.99420547G>T | CA357497376 | ADH7 | c.811C>A (p.His271Asn) c.847C>A (p.His283Asn) c.871C>A (p.His291Asn) c.640C>A (p.His214Asn) | |
4 | g.99420547_99420548insAAA | CA2671525108 | ADH7 | c.810_811insTTT (p.Gly270_His271insPhe) c.846_847insTTT (p.Gly282_His283insPhe) c.870_871insTTT (p.Gly290_His291insPhe) c.639_640insTTT (p.Gly213_His214insPhe) | gnomAD v4 |
4 | g.99420548C>A | CA3020727 | ADH7 | c.810G>T (p.Gly270=) c.846G>T (p.Gly282=) c.870G>T (p.Gly290=) c.639G>T (p.Gly213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420548C= | CA1479993804 | ADH7 | c.810G= (p.Gly270=) c.846G= (p.Gly282=) c.870G= (p.Gly290=) c.639G= (p.Gly213=) | |
4 | g.99420548C>G | CA440506358 | ADH7 | c.810G>C (p.Gly270=) c.846G>C (p.Gly282=) c.870G>C (p.Gly290=) c.639G>C (p.Gly213=) | |
4 | g.99420548C>T | CA102645774 | ADH7 | c.810G>A (p.Gly270=) c.846G>A (p.Gly282=) c.870G>A (p.Gly290=) c.639G>A (p.Gly213=) | dbSNP gnomAD v4 |
4 | g.99420549C>A | CA357497377 | ADH7 | c.809G>T (p.Gly270Val) c.845G>T (p.Gly282Val) c.869G>T (p.Gly290Val) c.638G>T (p.Gly213Val) | |
4 | g.99420549C>G | CA357497378 | ADH7 | c.809G>C (p.Gly270Ala) c.845G>C (p.Gly282Ala) c.869G>C (p.Gly290Ala) c.638G>C (p.Gly213Ala) | |
4 | g.99420549C>T | CA357497379 | ADH7 | c.809G>A (p.Gly270Glu) c.845G>A (p.Gly282Glu) c.869G>A (p.Gly290Glu) c.638G>A (p.Gly213Glu) | gnomAD v4 |
4 | g.99420550C>A | CA357497380 | ADH7 | c.808G>T (p.Gly270Trp) c.844G>T (p.Gly282Trp) c.868G>T (p.Gly290Trp) c.637G>T (p.Gly213Trp) | |
4 | g.99420550C>G | CA357497381 | ADH7 | c.808G>C (p.Gly270Arg) c.844G>C (p.Gly282Arg) c.868G>C (p.Gly290Arg) c.637G>C (p.Gly213Arg) | |
4 | g.99420550C>T | CA357497382 | ADH7 | c.808G>A (p.Gly270Arg) c.844G>A (p.Gly282Arg) c.868G>A (p.Gly290Arg) c.637G>A (p.Gly213Arg) | |
4 | g.99420551A>C | CA357497383 | ADH7 | c.807T>G (p.Ile269Met) c.843T>G (p.Ile281Met) c.867T>G (p.Ile289Met) c.636T>G (p.Ile212Met) | |
4 | g.99420551A>G | CA440506360 | ADH7 | c.807T>C (p.Ile269=) c.843T>C (p.Ile281=) c.867T>C (p.Ile289=) c.636T>C (p.Ile212=) | |
4 | g.99420551A>T | CA440506359 | ADH7 | c.807T>A (p.Ile269=) c.843T>A (p.Ile281=) c.867T>A (p.Ile289=) c.636T>A (p.Ile212=) | |
4 | g.99420552A= | CA1479993805 | ADH7 | c.806T= (p.Ile269=) c.842T= (p.Ile281=) c.866T= (p.Ile289=) c.635T= (p.Ile212=) | |
4 | g.99420552A>C | CA357497384 | ADH7 | c.806T>G (p.Ile269Ser) c.842T>G (p.Ile281Ser) c.866T>G (p.Ile289Ser) c.635T>G (p.Ile212Ser) | |
4 | g.99420552A>G | CA3020728 | ADH7 | c.806T>C (p.Ile269Thr) c.842T>C (p.Ile281Thr) c.866T>C (p.Ile289Thr) c.635T>C (p.Ile212Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420552A>T | CA357497385 | ADH7 | c.806T>A (p.Ile269Asn) c.842T>A (p.Ile281Asn) c.866T>A (p.Ile289Asn) c.635T>A (p.Ile212Asn) | |
4 | g.99420553T>A | CA357497386 | ADH7 | c.805A>T (p.Ile269Phe) c.841A>T (p.Ile281Phe) c.865A>T (p.Ile289Phe) c.634A>T (p.Ile212Phe) | |
4 | g.99420553T>C | CA357497387 | ADH7 | c.805A>G (p.Ile269Val) c.841A>G (p.Ile281Val) c.865A>G (p.Ile289Val) c.634A>G (p.Ile212Val) | dbSNP gnomAD v4 |
4 | g.99420553T>G | CA357497388 | ADH7 | c.805A>C (p.Ile269Leu) c.841A>C (p.Ile281Leu) c.865A>C (p.Ile289Leu) c.634A>C (p.Ile212Leu) | |
4 | g.99420553T= | CA1479993807 | ADH7 | c.805A= (p.Ile269=) c.841A= (p.Ile281=) c.865A= (p.Ile289=) c.634A= (p.Ile212=) | |
4 | g.99420554A>C | CA440506361 | ADH7 | c.804T>G (p.Val268=) c.840T>G (p.Val280=) c.864T>G (p.Val288=) c.633T>G (p.Val211=) | |
4 | g.99420554A>G | CA440506362 | ADH7 | c.804T>C (p.Val268=) c.840T>C (p.Val280=) c.864T>C (p.Val288=) c.633T>C (p.Val211=) | |
4 | g.99420554A>T | CA440506363 | ADH7 | c.804T>A (p.Val268=) c.840T>A (p.Val280=) c.864T>A (p.Val288=) c.633T>A (p.Val211=) | |
4 | g.99420555A>C | CA357497389 | ADH7 | c.803T>G (p.Val268Gly) c.839T>G (p.Val280Gly) c.863T>G (p.Val288Gly) c.632T>G (p.Val211Gly) | |
4 | g.99420555A>G | CA357497390 | ADH7 | c.803T>C (p.Val268Ala) c.839T>C (p.Val280Ala) c.863T>C (p.Val288Ala) c.632T>C (p.Val211Ala) | |
4 | g.99420555A>T | CA357497391 | ADH7 | c.803T>A (p.Val268Asp) c.839T>A (p.Val280Asp) c.863T>A (p.Val288Asp) c.632T>A (p.Val211Asp) | gnomAD v4 |
4 | g.99420556C>A | CA357497392 | ADH7 | c.802G>T (p.Val268Phe) c.838G>T (p.Val280Phe) c.862G>T (p.Val288Phe) c.631G>T (p.Val211Phe) | |
4 | g.99420556C= | CA1479993808 | ADH7 | c.802G= (p.Val268=) c.838G= (p.Val280=) c.862G= (p.Val288=) c.631G= (p.Val211=) | |
4 | g.99420556C>G | CA357497393 | ADH7 | c.802G>C (p.Val268Leu) c.838G>C (p.Val280Leu) c.862G>C (p.Val288Leu) c.631G>C (p.Val211Leu) | |
4 | g.99420556C>T | CA357497394 | ADH7 | c.802G>A (p.Val268Ile) c.838G>A (p.Val280Ile) c.862G>A (p.Val288Ile) c.631G>A (p.Val211Ile) | dbSNP gnomAD v4 |
4 | g.99420557T>A | CA357497395 | ADH7 | c.801A>T (p.Glu267Asp) c.837A>T (p.Glu279Asp) c.861A>T (p.Glu287Asp) c.630A>T (p.Glu210Asp) | |
4 | g.99420557T>C | CA440506364 | ADH7 | c.801A>G (p.Glu267=) c.837A>G (p.Glu279=) c.861A>G (p.Glu287=) c.630A>G (p.Glu210=) | |
4 | g.99420557T>G | CA357497396 | ADH7 | c.801A>C (p.Glu267Asp) c.837A>C (p.Glu279Asp) c.861A>C (p.Glu287Asp) c.630A>C (p.Glu210Asp) | |
4 | g.99420558T>A | CA357497398 | ADH7 | c.800A>T (p.Glu267Val) c.836A>T (p.Glu279Val) c.860A>T (p.Glu287Val) c.629A>T (p.Glu210Val) | |
4 | g.99420558T>C | CA357497399 | ADH7 | c.800A>G (p.Glu267Gly) c.836A>G (p.Glu279Gly) c.860A>G (p.Glu287Gly) c.629A>G (p.Glu210Gly) | |
4 | g.99420558T>G | CA357497397 | ADH7 | c.800A>C (p.Glu267Ala) c.836A>C (p.Glu279Ala) c.860A>C (p.Glu287Ala) c.629A>C (p.Glu210Ala) | |
4 | g.99420560_99420570del | CA2578151625 | ADH7 | c.790_800del (p.Tyr264SerfsTer6) c.826_836del (p.Tyr276SerfsTer6) c.850_860del (p.Tyr284SerfsTer6) c.619_629del (p.Tyr207SerfsTer6) | |
4 | g.99420559C>A | CA357497400 | ADH7 | c.799G>T (p.Glu267Ter) c.835G>T (p.Glu279Ter) c.859G>T (p.Glu287Ter) c.628G>T (p.Glu210Ter) | |
4 | g.99420559C>G | CA357497402 | ADH7 | c.799G>C (p.Glu267Gln) c.835G>C (p.Glu279Gln) c.859G>C (p.Glu287Gln) c.628G>C (p.Glu210Gln) | |
4 | g.99420559C>T | CA357497401 | ADH7 | c.799G>A (p.Glu267Lys) c.835G>A (p.Glu279Lys) c.859G>A (p.Glu287Lys) c.628G>A (p.Glu210Lys) | |
4 | g.99420560A>C | CA357497403 | ADH7 | c.798T>G (p.Phe266Leu) c.834T>G (p.Phe278Leu) c.858T>G (p.Phe286Leu) c.627T>G (p.Phe209Leu) | |
4 | g.99420560A>G | CA440506366 | ADH7 | c.798T>C (p.Phe266=) c.834T>C (p.Phe278=) c.858T>C (p.Phe286=) c.627T>C (p.Phe209=) | |
4 | g.99420560A>T | CA357497404 | ADH7 | c.798T>A (p.Phe266Leu) c.834T>A (p.Phe278Leu) c.858T>A (p.Phe286Leu) c.627T>A (p.Phe209Leu) | |
4 | g.99420561A>C | CA357497405 | ADH7 | c.797T>G (p.Phe266Cys) c.833T>G (p.Phe278Cys) c.857T>G (p.Phe286Cys) c.626T>G (p.Phe209Cys) | |
4 | g.99420561A>G | CA357497406 | ADH7 | c.797T>C (p.Phe266Ser) c.833T>C (p.Phe278Ser) c.857T>C (p.Phe286Ser) c.626T>C (p.Phe209Ser) | gnomAD v4 |
4 | g.99420561A>T | CA357497407 | ADH7 | c.797T>A (p.Phe266Tyr) c.833T>A (p.Phe278Tyr) c.857T>A (p.Phe286Tyr) c.626T>A (p.Phe209Tyr) | |
4 | g.99420562A= | CA1479994020 | ADH7 | c.796T= (p.Phe266=) c.832T= (p.Phe278=) c.856T= (p.Phe286=) c.625T= (p.Phe209=) | |
4 | g.99420562A>C | CA357497408 | ADH7 | c.796T>G (p.Phe266Val) c.832T>G (p.Phe278Val) c.856T>G (p.Phe286Val) c.625T>G (p.Phe209Val) | |
4 | g.99420562A>G | CA357497409 | ADH7 | c.796T>C (p.Phe266Leu) c.832T>C (p.Phe278Leu) c.856T>C (p.Phe286Leu) c.625T>C (p.Phe209Leu) | dbSNP |
4 | g.99420562A>T | CA102645792 | ADH7 | c.796T>A (p.Phe266Ile) c.832T>A (p.Phe278Ile) c.856T>A (p.Phe286Ile) c.625T>A (p.Phe209Ile) | dbSNP gnomAD v4 |
4 | g.99420563G>A | CA440506367 | ADH7 | c.795C>T (p.Thr265=) c.831C>T (p.Thr277=) c.855C>T (p.Thr285=) c.624C>T (p.Thr208=) | dbSNP |
4 | g.99420563G>C | CA440506368 | ADH7 | c.795C>G (p.Thr265=) c.831C>G (p.Thr277=) c.855C>G (p.Thr285=) c.624C>G (p.Thr208=) | |
4 | g.99420563G= | CA1479994022 | ADH7 | c.795C= (p.Thr265=) c.831C= (p.Thr277=) c.855C= (p.Thr285=) c.624C= (p.Thr208=) | |
4 | g.99420563G>T | CA440506369 | ADH7 | c.795C>A (p.Thr265=) c.831C>A (p.Thr277=) c.855C>A (p.Thr285=) c.624C>A (p.Thr208=) | gnomAD v4 |
4 | g.99420564G>A | CA357497410 | ADH7 | c.794C>T (p.Thr265Ile) c.830C>T (p.Thr277Ile) c.854C>T (p.Thr285Ile) c.623C>T (p.Thr208Ile) | dbSNP gnomAD v4 |
4 | g.99420564G>C | CA357497411 | ADH7 | c.794C>G (p.Thr265Ser) c.830C>G (p.Thr277Ser) c.854C>G (p.Thr285Ser) c.623C>G (p.Thr208Ser) | |
4 | g.99420564G= | CA1479994027 | ADH7 | c.794C= (p.Thr265=) c.830C= (p.Thr277=) c.854C= (p.Thr285=) c.623C= (p.Thr208=) | |
4 | g.99420564G>T | CA357497412 | ADH7 | c.794C>A (p.Thr265Asn) c.830C>A (p.Thr277Asn) c.854C>A (p.Thr285Asn) c.623C>A (p.Thr208Asn) | dbSNP |
4 | g.99420565T>A | CA357497415 | ADH7 | c.793A>T (p.Thr265Ser) c.829A>T (p.Thr277Ser) c.853A>T (p.Thr285Ser) c.622A>T (p.Thr208Ser) | |
4 | g.99420565T>C | CA357497413 | ADH7 | c.793A>G (p.Thr265Ala) c.829A>G (p.Thr277Ala) c.853A>G (p.Thr285Ala) c.622A>G (p.Thr208Ala) | gnomAD v4 COSMIC COSMIC |
4 | g.99420565T>G | CA357497414 | ADH7 | c.793A>C (p.Thr265Pro) c.829A>C (p.Thr277Pro) c.853A>C (p.Thr285Pro) c.622A>C (p.Thr208Pro) | gnomAD v4 |
4 | g.99420566del | CA440506371 | ADH7 | c.792del (p.Tyr264Ter) c.828del (p.Tyr276Ter) c.852del (p.Tyr284Ter) c.621del (p.Tyr207Ter) | gnomAD v4 |
4 | g.99420566G>A | CA440506370 | ADH7 | c.792C>T (p.Tyr264=) c.828C>T (p.Tyr276=) c.852C>T (p.Tyr284=) c.621C>T (p.Tyr207=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420566G>C | CA357497416 | ADH7 | c.792C>G (p.Tyr264Ter) c.828C>G (p.Tyr276Ter) c.852C>G (p.Tyr284Ter) c.621C>G (p.Tyr207Ter) | |
4 | g.99420566G= | CA1479994030 | ADH7 | c.792C= (p.Tyr264=) c.828C= (p.Tyr276=) c.852C= (p.Tyr284=) c.621C= (p.Tyr207=) | |
4 | g.99420566G>T | CA357497417 | ADH7 | c.792C>A (p.Tyr264Ter) c.828C>A (p.Tyr276Ter) c.852C>A (p.Tyr284Ter) c.621C>A (p.Tyr207Ter) | |
4 | g.99420567T>A | CA357497418 | ADH7 | c.791A>T (p.Tyr264Phe) c.827A>T (p.Tyr276Phe) c.851A>T (p.Tyr284Phe) c.620A>T (p.Tyr207Phe) | |
4 | g.99420567T>C | CA357497419 | ADH7 | c.791A>G (p.Tyr264Cys) c.827A>G (p.Tyr276Cys) c.851A>G (p.Tyr284Cys) c.620A>G (p.Tyr207Cys) | |
4 | g.99420567T>G | CA357497420 | ADH7 | c.791A>C (p.Tyr264Ser) c.827A>C (p.Tyr276Ser) c.851A>C (p.Tyr284Ser) c.620A>C (p.Tyr207Ser) | |
4 | g.99420568A= | CA1479994033 | ADH7 | c.790T= (p.Tyr264=) c.826T= (p.Tyr276=) c.850T= (p.Tyr284=) c.619T= (p.Tyr207=) | |
4 | g.99420568A>C | CA357497421 | ADH7 | c.790T>G (p.Tyr264Asp) c.826T>G (p.Tyr276Asp) c.850T>G (p.Tyr284Asp) c.619T>G (p.Tyr207Asp) | |
4 | g.99420568A>G | CA357497422 | ADH7 | c.790T>C (p.Tyr264His) c.826T>C (p.Tyr276His) c.850T>C (p.Tyr284His) c.619T>C (p.Tyr207His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420568A>T | CA357497423 | ADH7 | c.790T>A (p.Tyr264Asn) c.826T>A (p.Tyr276Asn) c.850T>A (p.Tyr284Asn) c.619T>A (p.Tyr207Asn) | |
4 | g.99420569T>A | CA440506372 | ADH7 | c.789A>T (p.Gly263=) c.825A>T (p.Gly275=) c.849A>T (p.Gly283=) c.618A>T (p.Gly206=) | gnomAD v4 |
4 | g.99420569T>C | CA440506373 | ADH7 | c.789A>G (p.Gly263=) c.825A>G (p.Gly275=) c.849A>G (p.Gly283=) c.618A>G (p.Gly206=) | |
4 | g.99420569T>G | CA440506374 | ADH7 | c.789A>C (p.Gly263=) c.825A>C (p.Gly275=) c.849A>C (p.Gly283=) c.618A>C (p.Gly206=) | |
4 | g.99420570C>A | CA357497424 | ADH7 | c.788G>T (p.Gly263Val) c.824G>T (p.Gly275Val) c.848G>T (p.Gly283Val) c.617G>T (p.Gly206Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420570C= | CA1479994041 | ADH7 | c.788G= (p.Gly263=) c.824G= (p.Gly275=) c.848G= (p.Gly283=) c.617G= (p.Gly206=) | |
4 | g.99420570C>G | CA357497425 | ADH7 | c.788G>C (p.Gly263Ala) c.824G>C (p.Gly275Ala) c.848G>C (p.Gly283Ala) c.617G>C (p.Gly206Ala) | |
4 | g.99420570C>T | CA102645794 | ADH7 | c.788G>A (p.Gly263Glu) c.824G>A (p.Gly275Glu) c.848G>A (p.Gly283Glu) c.617G>A (p.Gly206Glu) | dbSNP COSMIC COSMIC |
4 | g.99420571C>A | CA357497427 | ADH7 | c.787G>T (p.Gly263Ter) c.823G>T (p.Gly275Ter) c.847G>T (p.Gly283Ter) c.616G>T (p.Gly206Ter) | |
4 | g.99420571C>G | CA357497428 | ADH7 | c.787G>C (p.Gly263Arg) c.823G>C (p.Gly275Arg) c.847G>C (p.Gly283Arg) c.616G>C (p.Gly206Arg) | |
4 | g.99420571C>T | CA357497426 | ADH7 | c.787G>A (p.Gly263Arg) c.823G>A (p.Gly275Arg) c.847G>A (p.Gly283Arg) c.616G>A (p.Gly206Arg) | |
4 | g.99420572C>A | CA440506377 | ADH7 | c.786G>T (p.Val262=) c.822G>T (p.Val274=) c.846G>T (p.Val282=) c.615G>T (p.Val205=) | |
4 | g.99420572C= | CA1479994044 | ADH7 | c.786G= (p.Val262=) c.822G= (p.Val274=) c.846G= (p.Val282=) c.615G= (p.Val205=) | |
4 | g.99420572C>G | CA440506376 | ADH7 | c.786G>C (p.Val262=) c.822G>C (p.Val274=) c.846G>C (p.Val282=) c.615G>C (p.Val205=) | |
4 | g.99420572C>T | CA440506375 | ADH7 | c.786G>A (p.Val262=) c.822G>A (p.Val274=) c.846G>A (p.Val282=) c.615G>A (p.Val205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.99420573A>C | CA357497429 | ADH7 | c.785T>G (p.Val262Gly) c.821T>G (p.Val274Gly) c.845T>G (p.Val282Gly) c.614T>G (p.Val205Gly) | gnomAD v4 |
4 | g.99420573A>G | CA357497430 | ADH7 | c.785T>C (p.Val262Ala) c.821T>C (p.Val274Ala) c.845T>C (p.Val282Ala) c.614T>C (p.Val205Ala) | |
4 | g.99420573A>T | CA357497431 | ADH7 | c.785T>A (p.Val262Glu) c.821T>A (p.Val274Glu) c.845T>A (p.Val282Glu) c.614T>A (p.Val205Glu) | |
4 | g.99420574C>A | CA357497432 | ADH7 | c.784G>T (p.Val262Leu) c.820G>T (p.Val274Leu) c.844G>T (p.Val282Leu) c.613G>T (p.Val205Leu) | dbSNP |
4 | g.99420574C= | CA1479994050 | ADH7 | c.784G= (p.Val262=) c.820G= (p.Val274=) c.844G= (p.Val282=) c.613G= (p.Val205=) | |
4 | g.99420574C>G | CA357497433 | ADH7 | c.784G>C (p.Val262Leu) c.820G>C (p.Val274Leu) c.844G>C (p.Val282Leu) c.613G>C (p.Val205Leu) | |
4 | g.99420574C>T | CA3020729 | ADH7 | c.784G>A (p.Val262Met) c.820G>A (p.Val274Met) c.844G>A (p.Val282Met) c.613G>A (p.Val205Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.99420575G>A | CA3020730 | ADH7 | c.783C>T (p.Asn261=) c.819C>T (p.Asn273=) c.843C>T (p.Asn281=) c.612C>T (p.Asn204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420575G>C | CA357497434 | ADH7 | c.783C>G (p.Asn261Lys) c.819C>G (p.Asn273Lys) c.843C>G (p.Asn281Lys) c.612C>G (p.Asn204Lys) | |
4 | g.99420575G= | CA1479994054 | ADH7 | c.783C= (p.Asn261=) c.819C= (p.Asn273=) c.843C= (p.Asn281=) c.612C= (p.Asn204=) | |
4 | g.99420575G>T | CA357497435 | ADH7 | c.783C>A (p.Asn261Lys) c.819C>A (p.Asn273Lys) c.843C>A (p.Asn281Lys) c.612C>A (p.Asn204Lys) | |
4 | g.99420576T>A | CA357497436 | ADH7 | c.782A>T (p.Asn261Ile) c.818A>T (p.Asn273Ile) c.842A>T (p.Asn281Ile) c.611A>T (p.Asn204Ile) | |
4 | g.99420576T>C | CA357497437 | ADH7 | c.782A>G (p.Asn261Ser) c.818A>G (p.Asn273Ser) c.842A>G (p.Asn281Ser) c.611A>G (p.Asn204Ser) | |
4 | g.99420576T>G | CA357497438 | ADH7 | c.782A>C (p.Asn261Thr) c.818A>C (p.Asn273Thr) c.842A>C (p.Asn281Thr) c.611A>C (p.Asn204Thr) | |
4 | g.99420577del | CA2671525109 | ADH7 | c.782del (p.Asn261ThrfsTer15) c.818del (p.Asn273ThrfsTer15) c.842del (p.Asn281ThrfsTer15) c.611del (p.Asn204ThrfsTer15) | gnomAD v4 |
4 | g.99420577T>A | CA357497440 | ADH7 | c.781A>T (p.Asn261Tyr) c.817A>T (p.Asn273Tyr) c.841A>T (p.Asn281Tyr) c.610A>T (p.Asn204Tyr) | |
4 | g.99420577T>C | CA357497441 | ADH7 | c.781A>G (p.Asn261Asp) c.817A>G (p.Asn273Asp) c.841A>G (p.Asn281Asp) c.610A>G (p.Asn204Asp) | |
4 | g.99420577T>G | CA357497439 | ADH7 | c.781A>C (p.Asn261His) c.817A>C (p.Asn273His) c.841A>C (p.Asn281His) c.610A>C (p.Asn204His) | gnomAD v4 |
4 | g.99420578G>A | CA440506378 | ADH7 | c.780C>T (p.Asn260=) c.816C>T (p.Asn272=) c.840C>T (p.Asn280=) c.609C>T (p.Asn203=) | gnomAD v4 |
4 | g.99420578G>C | CA357497442 | ADH7 | c.780C>G (p.Asn260Lys) c.816C>G (p.Asn272Lys) c.840C>G (p.Asn280Lys) c.609C>G (p.Asn203Lys) | |
4 | g.99420578G>T | CA357497443 | ADH7 | c.780C>A (p.Asn260Lys) c.816C>A (p.Asn272Lys) c.840C>A (p.Asn280Lys) c.609C>A (p.Asn203Lys) | |
4 | g.99420579T>A | CA357497444 | ADH7 | c.779A>T (p.Asn260Ile) c.815A>T (p.Asn272Ile) c.839A>T (p.Asn280Ile) c.608A>T (p.Asn203Ile) | gnomAD v4 |
4 | g.99420579T>C | CA357497445 | ADH7 | c.779A>G (p.Asn260Ser) c.815A>G (p.Asn272Ser) c.839A>G (p.Asn280Ser) c.608A>G (p.Asn203Ser) | |
4 | g.99420579T>G | CA357497446 | ADH7 | c.779A>C (p.Asn260Thr) c.815A>C (p.Asn272Thr) c.839A>C (p.Asn280Thr) c.608A>C (p.Asn203Thr) | |
4 | g.99420580T>A | CA357497449 | ADH7 | c.778A>T (p.Asn260Tyr) c.814A>T (p.Asn272Tyr) c.838A>T (p.Asn280Tyr) c.607A>T (p.Asn203Tyr) | |
4 | g.99420580T>C | CA357497448 | ADH7 | c.778A>G (p.Asn260Asp) c.814A>G (p.Asn272Asp) c.838A>G (p.Asn280Asp) c.607A>G (p.Asn203Asp) | |
4 | g.99420580T>G | CA357497447 | ADH7 | c.778A>C (p.Asn260His) c.814A>C (p.Asn272His) c.838A>C (p.Asn280His) c.607A>C (p.Asn203His) | |
4 | g.99420581G>A | CA440506379 | ADH7 | c.777C>T (p.Gly259=) c.813C>T (p.Gly271=) c.837C>T (p.Gly279=) c.606C>T (p.Gly202=) | gnomAD v4 |
4 | g.99420581G>C | CA440506380 | ADH7 | c.777C>G (p.Gly259=) c.813C>G (p.Gly271=) c.837C>G (p.Gly279=) c.606C>G (p.Gly202=) | |
4 | g.99420581G>T | CA440506381 | ADH7 | c.777C>A (p.Gly259=) c.813C>A (p.Gly271=) c.837C>A (p.Gly279=) c.606C>A (p.Gly202=) | |
4 | g.99420582C>A | CA357497450 | ADH7 | c.776G>T (p.Gly259Val) c.812G>T (p.Gly271Val) c.836G>T (p.Gly279Val) c.605G>T (p.Gly202Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420582C= | CA1479994064 | ADH7 | c.776G= (p.Gly259=) c.812G= (p.Gly271=) c.836G= (p.Gly279=) c.605G= (p.Gly202=) | |
4 | g.99420582C>G | CA357497451 | ADH7 | c.776G>C (p.Gly259Ala) c.812G>C (p.Gly271Ala) c.836G>C (p.Gly279Ala) c.605G>C (p.Gly202Ala) | |
4 | g.99420582C>T | CA3020731 | ADH7 | c.776G>A (p.Gly259Asp) c.812G>A (p.Gly271Asp) c.836G>A (p.Gly279Asp) c.605G>A (p.Gly202Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420583C>A | CA357497452 | ADH7 | c.775G>T (p.Gly259Cys) c.811G>T (p.Gly271Cys) c.835G>T (p.Gly279Cys) c.604G>T (p.Gly202Cys) | |
4 | g.99420583C= | CA1479994068 | ADH7 | c.775G= (p.Gly259=) c.811G= (p.Gly271=) c.835G= (p.Gly279=) c.604G= (p.Gly202=) | |
4 | g.99420583C>G | CA357497453 | ADH7 | c.775G>C (p.Gly259Arg) c.811G>C (p.Gly271Arg) c.835G>C (p.Gly279Arg) c.604G>C (p.Gly202Arg) | |
4 | g.99420583C>T | CA102645819 | ADH7 | c.775G>A (p.Gly259Ser) c.811G>A (p.Gly271Ser) c.835G>A (p.Gly279Ser) c.604G>A (p.Gly202Ser) | dbSNP gnomAD v4 |
4 | g.99420584T>A | CA440506382 | ADH7 | c.774A>T (p.Thr258=) c.810A>T (p.Thr270=) c.834A>T (p.Thr278=) c.603A>T (p.Thr201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420584T>C | CA440506383 | ADH7 | c.774A>G (p.Thr258=) c.810A>G (p.Thr270=) c.834A>G (p.Thr278=) c.603A>G (p.Thr201=) | dbSNP |
4 | g.99420584T>G | CA440506384 | ADH7 | c.774A>C (p.Thr258=) c.810A>C (p.Thr270=) c.834A>C (p.Thr278=) c.603A>C (p.Thr201=) | |
4 | g.99420584T= | CA1479994071 | ADH7 | c.774A= (p.Thr258=) c.810A= (p.Thr270=) c.834A= (p.Thr278=) c.603A= (p.Thr201=) | |
4 | g.99420585G>A | CA3020732 | ADH7 | c.773C>T (p.Thr258Ile) c.809C>T (p.Thr270Ile) c.833C>T (p.Thr278Ile) c.602C>T (p.Thr201Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420585G>C | CA357497455 | ADH7 | c.773C>G (p.Thr258Arg) c.809C>G (p.Thr270Arg) c.833C>G (p.Thr278Arg) c.602C>G (p.Thr201Arg) | COSMIC COSMIC |
4 | g.99420585G= | CA1479994075 | ADH7 | c.773C= (p.Thr258=) c.809C= (p.Thr270=) c.833C= (p.Thr278=) c.602C= (p.Thr201=) | |
4 | g.99420585G>T | CA357497454 | ADH7 | c.773C>A (p.Thr258Lys) c.809C>A (p.Thr270Lys) c.833C>A (p.Thr278Lys) c.602C>A (p.Thr201Lys) | |
4 | g.99420586T>A | CA357497456 | ADH7 | c.772A>T (p.Thr258Ser) c.808A>T (p.Thr270Ser) c.832A>T (p.Thr278Ser) c.601A>T (p.Thr201Ser) | |
4 | g.99420586T>C | CA357497458 | ADH7 | c.772A>G (p.Thr258Ala) c.808A>G (p.Thr270Ala) c.832A>G (p.Thr278Ala) c.601A>G (p.Thr201Ala) | |
4 | g.99420586T>G | CA357497457 | ADH7 | c.772A>C (p.Thr258Pro) c.808A>C (p.Thr270Pro) c.832A>C (p.Thr278Pro) c.601A>C (p.Thr201Pro) | |
4 | g.99420586dup | CA2671525110 | ADH7 | c.772dup (p.Thr258AsnfsTer10) c.808dup (p.Thr270AsnfsTer10) c.832dup (p.Thr278AsnfsTer10) c.601dup (p.Thr201AsnfsTer10) | gnomAD v4 |
4 | g.99420587C>A | CA357497459 | ADH7 | c.771G>T (p.Met257Ile) c.807G>T (p.Met269Ile) c.831G>T (p.Met277Ile) c.600G>T (p.Met200Ile) | |
4 | g.99420587C>G | CA357497461 | ADH7 | c.771G>C (p.Met257Ile) c.807G>C (p.Met269Ile) c.831G>C (p.Met277Ile) c.600G>C (p.Met200Ile) | |
4 | g.99420587C>T | CA357497460 | ADH7 | c.771G>A (p.Met257Ile) c.807G>A (p.Met269Ile) c.831G>A (p.Met277Ile) c.600G>A (p.Met200Ile) | ClinVar |
4 | g.99420588A>C | CA357497462 | ADH7 | c.770T>G (p.Met257Arg) c.806T>G (p.Met269Arg) c.830T>G (p.Met277Arg) c.599T>G (p.Met200Arg) | |
4 | g.99420588A>G | CA357497463 | ADH7 | c.770T>C (p.Met257Thr) c.806T>C (p.Met269Thr) c.830T>C (p.Met277Thr) c.599T>C (p.Met200Thr) | |
4 | g.99420588A>T | CA357497464 | ADH7 | c.770T>A (p.Met257Lys) c.806T>A (p.Met269Lys) c.830T>A (p.Met277Lys) c.599T>A (p.Met200Lys) | |
4 | g.99420589T>A | CA357497465 | ADH7 | c.769A>T (p.Met257Leu) c.805A>T (p.Met269Leu) c.829A>T (p.Met277Leu) c.598A>T (p.Met200Leu) | |
4 | g.99420589T>C | CA357497466 | ADH7 | c.769A>G (p.Met257Val) c.805A>G (p.Met269Val) c.829A>G (p.Met277Val) c.598A>G (p.Met200Val) | |
4 | g.99420589T>G | CA357497467 | ADH7 | c.769A>C (p.Met257Leu) c.805A>C (p.Met269Leu) c.829A>C (p.Met277Leu) c.598A>C (p.Met200Leu) | gnomAD v4 |
4 | g.99420590T>A | CA357497468 | ADH7 | c.768A>T (p.Glu256Asp) c.804A>T (p.Glu268Asp) c.828A>T (p.Glu276Asp) c.597A>T (p.Glu199Asp) | |
4 | g.99420590T>C | CA440506385 | ADH7 | c.768A>G (p.Glu256=) c.804A>G (p.Glu268=) c.828A>G (p.Glu276=) c.597A>G (p.Glu199=) | |
4 | g.99420590T>G | CA357497469 | ADH7 | c.768A>C (p.Glu256Asp) c.804A>C (p.Glu268Asp) c.828A>C (p.Glu276Asp) c.597A>C (p.Glu199Asp) | |
4 | g.99420591T>A | CA357497470 | ADH7 | c.767A>T (p.Glu256Val) c.803A>T (p.Glu268Val) c.827A>T (p.Glu276Val) c.596A>T (p.Glu199Val) | |
4 | g.99420591T>C | CA357497471 | ADH7 | c.767A>G (p.Glu256Gly) c.803A>G (p.Glu268Gly) c.827A>G (p.Glu276Gly) c.596A>G (p.Glu199Gly) | |
4 | g.99420591T>G | CA357497472 | ADH7 | c.767A>C (p.Glu256Ala) c.803A>C (p.Glu268Ala) c.827A>C (p.Glu276Ala) c.596A>C (p.Glu199Ala) | |
4 | g.99420592C>A | CA357497473 | ADH7 | c.766G>T (p.Glu256Ter) c.802G>T (p.Glu268Ter) c.826G>T (p.Glu276Ter) c.595G>T (p.Glu199Ter) | |
4 | g.99420592C= | CA1479994081 | ADH7 | c.766G= (p.Glu256=) c.802G= (p.Glu268=) c.826G= (p.Glu276=) c.595G= (p.Glu199=) | |
4 | g.99420592C>G | CA3020733 | ADH7 | c.766G>C (p.Glu256Gln) c.802G>C (p.Glu268Gln) c.826G>C (p.Glu276Gln) c.595G>C (p.Glu199Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420592C>T | CA3020734 | ADH7 | c.766G>A (p.Glu256Lys) c.802G>A (p.Glu268Lys) c.826G>A (p.Glu276Lys) c.595G>A (p.Glu199Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420593T>A | CA440506388 | ADH7 | c.765A>T (p.Ser255=) c.801A>T (p.Ser267=) c.825A>T (p.Ser275=) c.594A>T (p.Ser198=) | |
4 | g.99420593T>C | CA440506387 | ADH7 | c.765A>G (p.Ser255=) c.801A>G (p.Ser267=) c.825A>G (p.Ser275=) c.594A>G (p.Ser198=) | |
4 | g.99420593T>G | CA440506386 | ADH7 | c.765A>C (p.Ser255=) c.801A>C (p.Ser267=) c.825A>C (p.Ser275=) c.594A>C (p.Ser198=) | gnomAD v4 |
4 | g.99420594G>A | CA357497474 | ADH7 | c.764C>T (p.Ser255Leu) c.800C>T (p.Ser267Leu) c.824C>T (p.Ser275Leu) c.593C>T (p.Ser198Leu) | |
4 | g.99420594G>C | CA357497475 | ADH7 | c.764C>G (p.Ser255Ter) c.800C>G (p.Ser267Ter) c.824C>G (p.Ser275Ter) c.593C>G (p.Ser198Ter) | |
4 | g.99420594G>T | CA357497476 | ADH7 | c.764C>A (p.Ser255Ter) c.800C>A (p.Ser267Ter) c.824C>A (p.Ser275Ter) c.593C>A (p.Ser198Ter) | |
4 | g.99420595A>C | CA357497477 | ADH7 | c.763T>G (p.Ser255Ala) c.799T>G (p.Ser267Ala) c.823T>G (p.Ser275Ala) c.592T>G (p.Ser198Ala) | |
4 | g.99420595A>G | CA357497478 | ADH7 | c.763T>C (p.Ser255Pro) c.799T>C (p.Ser267Pro) c.823T>C (p.Ser275Pro) c.592T>C (p.Ser198Pro) | ClinVar |
4 | g.99420595A>T | CA357497479 | ADH7 | c.763T>A (p.Ser255Thr) c.799T>A (p.Ser267Thr) c.823T>A (p.Ser275Thr) c.592T>A (p.Ser198Thr) | |
4 | g.99420596C>A | CA440506389 | ADH7 | c.762G>T (p.Leu254=) c.798G>T (p.Leu266=) c.822G>T (p.Leu274=) c.591G>T (p.Leu197=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420596C= | CA1479994085 | ADH7 | c.762G= (p.Leu254=) c.798G= (p.Leu266=) c.822G= (p.Leu274=) c.591G= (p.Leu197=) | |
4 | g.99420596C>G | CA440506390 | ADH7 | c.762G>C (p.Leu254=) c.798G>C (p.Leu266=) c.822G>C (p.Leu274=) c.591G>C (p.Leu197=) | |
4 | g.99420596C>T | CA440506391 | ADH7 | c.762G>A (p.Leu254=) c.798G>A (p.Leu266=) c.822G>A (p.Leu274=) c.591G>A (p.Leu197=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420597A= | CA1479994087 | ADH7 | c.761T= (p.Leu254=) c.797T= (p.Leu266=) c.821T= (p.Leu274=) c.590T= (p.Leu197=) | |
4 | g.99420597A>C | CA357497480 | ADH7 | c.761T>G (p.Leu254Arg) c.797T>G (p.Leu266Arg) c.821T>G (p.Leu274Arg) c.590T>G (p.Leu197Arg) | |
4 | g.99420597A>G | CA357497481 | ADH7 | c.761T>C (p.Leu254Pro) c.797T>C (p.Leu266Pro) c.821T>C (p.Leu274Pro) c.590T>C (p.Leu197Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420597A>T | CA357497482 | ADH7 | c.761T>A (p.Leu254Gln) c.797T>A (p.Leu266Gln) c.821T>A (p.Leu274Gln) c.590T>A (p.Leu197Gln) | |
4 | g.99420598G>A | CA440506392 | ADH7 | c.760C>T (p.Leu254=) c.796C>T (p.Leu266=) c.820C>T (p.Leu274=) c.589C>T (p.Leu197=) | dbSNP gnomAD v2 |
4 | g.99420598G>C | CA357497483 | ADH7 | c.760C>G (p.Leu254Val) c.796C>G (p.Leu266Val) c.820C>G (p.Leu274Val) c.589C>G (p.Leu197Val) | |
4 | g.99420598G= | CA1479994088 | ADH7 | c.760C= (p.Leu254=) c.796C= (p.Leu266=) c.820C= (p.Leu274=) c.589C= (p.Leu197=) | |
4 | g.99420598G>T | CA357497484 | ADH7 | c.760C>A (p.Leu254Met) c.796C>A (p.Leu266Met) c.820C>A (p.Leu274Met) c.589C>A (p.Leu197Met) | |
4 | g.99420599C>A | CA440506395 | ADH7 | c.759G>T (p.Val253=) c.795G>T (p.Val265=) c.819G>T (p.Val273=) c.588G>T (p.Val196=) | |
4 | g.99420599C= | CA1479994095 | ADH7 | c.759G= (p.Val253=) c.795G= (p.Val265=) c.819G= (p.Val273=) c.588G= (p.Val196=) | |
4 | g.99420599C>G | CA440506393 | ADH7 | c.759G>C (p.Val253=) c.795G>C (p.Val265=) c.819G>C (p.Val273=) c.588G>C (p.Val196=) | |
4 | g.99420599C>T | CA440506394 | ADH7 | c.759G>A (p.Val253=) c.795G>A (p.Val265=) c.819G>A (p.Val273=) c.588G>A (p.Val196=) | dbSNP gnomAD v2 |
4 | g.99420600A= | CA1479994099 | ADH7 | c.758T= (p.Val253=) c.794T= (p.Val265=) c.818T= (p.Val273=) c.587T= (p.Val196=) | |
4 | g.99420600A>C | CA357497487 | ADH7 | c.758T>G (p.Val253Gly) c.794T>G (p.Val265Gly) c.818T>G (p.Val273Gly) c.587T>G (p.Val196Gly) | |
4 | g.99420600A>G | CA357497486 | ADH7 | c.758T>C (p.Val253Ala) c.794T>C (p.Val265Ala) c.818T>C (p.Val273Ala) c.587T>C (p.Val196Ala) | |
4 | g.99420600A>T | CA357497485 | ADH7 | c.758T>A (p.Val253Glu) c.794T>A (p.Val265Glu) c.818T>A (p.Val273Glu) c.587T>A (p.Val196Glu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420601C>A | CA357497488 | ADH7 | c.757G>T (p.Val253Leu) c.793G>T (p.Val265Leu) c.817G>T (p.Val273Leu) c.586G>T (p.Val196Leu) | |
4 | g.99420601C>G | CA357497489 | ADH7 | c.757G>C (p.Val253Leu) c.793G>C (p.Val265Leu) c.817G>C (p.Val273Leu) c.586G>C (p.Val196Leu) | |
4 | g.99420601C>T | CA357497490 | ADH7 | c.757G>A (p.Val253Met) c.793G>A (p.Val265Met) c.817G>A (p.Val273Met) c.586G>A (p.Val196Met) | gnomAD v4 COSMIC COSMIC |
4 | g.99420602C>A | CA357497491 | ADH7 | c.756G>T (p.Glu252Asp) c.792G>T (p.Glu264Asp) c.816G>T (p.Glu272Asp) c.585G>T (p.Glu195Asp) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420602C= | CA1479994102 | ADH7 | c.756G= (p.Glu252=) c.792G= (p.Glu264=) c.816G= (p.Glu272=) c.585G= (p.Glu195=) | |
4 | g.99420602C>G | CA357497492 | ADH7 | c.756G>C (p.Glu252Asp) c.792G>C (p.Glu264Asp) c.816G>C (p.Glu272Asp) c.585G>C (p.Glu195Asp) | |
4 | g.99420602C>T | CA440506396 | ADH7 | c.756G>A (p.Glu252=) c.792G>A (p.Glu264=) c.816G>A (p.Glu272=) c.585G>A (p.Glu195=) | |
4 | g.99420603T>A | CA357497493 | ADH7 | c.755A>T (p.Glu252Val) c.791A>T (p.Glu264Val) c.815A>T (p.Glu272Val) c.584A>T (p.Glu195Val) | |
4 | g.99420603T>C | CA357497494 | ADH7 | c.755A>G (p.Glu252Gly) c.791A>G (p.Glu264Gly) c.815A>G (p.Glu272Gly) c.584A>G (p.Glu195Gly) | gnomAD v4 |
4 | g.99420603T>G | CA357497495 | ADH7 | c.755A>C (p.Glu252Ala) c.791A>C (p.Glu264Ala) c.815A>C (p.Glu272Ala) c.584A>C (p.Glu195Ala) | |
4 | g.99420604C>A | CA357497496 | ADH7 | c.754G>T (p.Glu252Ter) c.790G>T (p.Glu264Ter) c.814G>T (p.Glu272Ter) c.583G>T (p.Glu195Ter) | |
4 | g.99420604C= | CA1479994104 | ADH7 | c.754G= (p.Glu252=) c.790G= (p.Glu264=) c.814G= (p.Glu272=) c.583G= (p.Glu195=) | |
4 | g.99420604C>G | CA357497497 | ADH7 | c.754G>C (p.Glu252Gln) c.790G>C (p.Glu264Gln) c.814G>C (p.Glu272Gln) c.583G>C (p.Glu195Gln) | |
4 | g.99420604C>T | CA357497498 | ADH7 | c.754G>A (p.Glu252Lys) c.790G>A (p.Glu264Lys) c.814G>A (p.Glu272Lys) c.583G>A (p.Glu195Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420605A= | CA1479994106 | ADH7 | c.753T= (p.Ser251=) c.789T= (p.Ser263=) c.813T= (p.Ser271=) c.582T= (p.Ser194=) | |
4 | g.99420605A>C | CA357497499 | ADH7 | c.753T>G (p.Ser251Arg) c.789T>G (p.Ser263Arg) c.813T>G (p.Ser271Arg) c.582T>G (p.Ser194Arg) | |
4 | g.99420605A>G | CA440506397 | ADH7 | c.753T>C (p.Ser251=) c.789T>C (p.Ser263=) c.813T>C (p.Ser271=) c.582T>C (p.Ser194=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420605A>T | CA357497500 | ADH7 | c.753T>A (p.Ser251Arg) c.789T>A (p.Ser263Arg) c.813T>A (p.Ser271Arg) c.582T>A (p.Ser194Arg) | |
4 | g.99420606C>A | CA357497501 | ADH7 | c.752G>T (p.Ser251Ile) c.788G>T (p.Ser263Ile) c.812G>T (p.Ser271Ile) c.581G>T (p.Ser194Ile) | |
4 | g.99420606C>G | CA357497503 | ADH7 | c.752G>C (p.Ser251Thr) c.788G>C (p.Ser263Thr) c.812G>C (p.Ser271Thr) c.581G>C (p.Ser194Thr) | |
4 | g.99420606C>T | CA357497502 | ADH7 | c.752G>A (p.Ser251Asn) c.788G>A (p.Ser263Asn) c.812G>A (p.Ser271Asn) c.581G>A (p.Ser194Asn) | |
4 | g.99420607T>A | CA357497504 | ADH7 | c.751A>T (p.Ser251Cys) c.787A>T (p.Ser263Cys) c.811A>T (p.Ser271Cys) c.580A>T (p.Ser194Cys) | |
4 | g.99420607T>C | CA357497505 | ADH7 | c.751A>G (p.Ser251Gly) c.787A>G (p.Ser263Gly) c.811A>G (p.Ser271Gly) c.580A>G (p.Ser194Gly) | |
4 | g.99420607T>G | CA357497506 | ADH7 | c.751A>C (p.Ser251Arg) c.787A>C (p.Ser263Arg) c.811A>C (p.Ser271Arg) c.580A>C (p.Ser194Arg) | |
4 | g.99420608G>A | CA440506398 | ADH7 | c.750C>T (p.Ile250=) c.786C>T (p.Ile262=) c.810C>T (p.Ile270=) c.579C>T (p.Ile193=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420608G>C | CA357497507 | ADH7 | c.750C>G (p.Ile250Met) c.786C>G (p.Ile262Met) c.810C>G (p.Ile270Met) c.579C>G (p.Ile193Met) | |
4 | g.99420608G= | CA1479994108 | ADH7 | c.750C= (p.Ile250=) c.786C= (p.Ile262=) c.810C= (p.Ile270=) c.579C= (p.Ile193=) | |
4 | g.99420608G>T | CA440506399 | ADH7 | c.750C>A (p.Ile250=) c.786C>A (p.Ile262=) c.810C>A (p.Ile270=) c.579C>A (p.Ile193=) | gnomAD v3 gnomAD v4 |
4 | g.99420609A= | CA1479994114 | ADH7 | c.749T= (p.Ile250=) c.785T= (p.Ile262=) c.809T= (p.Ile270=) c.578T= (p.Ile193=) | |
4 | g.99420609A>C | CA357497508 | ADH7 | c.749T>G (p.Ile250Ser) c.785T>G (p.Ile262Ser) c.809T>G (p.Ile270Ser) c.578T>G (p.Ile193Ser) | |
4 | g.99420609A>G | CA3020735 | ADH7 | c.749T>C (p.Ile250Thr) c.785T>C (p.Ile262Thr) c.809T>C (p.Ile270Thr) c.578T>C (p.Ile193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420609A>T | CA357497509 | ADH7 | c.749T>A (p.Ile250Asn) c.785T>A (p.Ile262Asn) c.809T>A (p.Ile270Asn) c.578T>A (p.Ile193Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420610T>A | CA357497510 | ADH7 | c.748A>T (p.Ile250Phe) c.784A>T (p.Ile262Phe) c.808A>T (p.Ile270Phe) c.577A>T (p.Ile193Phe) | |
4 | g.99420610T>C | CA357497511 | ADH7 | c.748A>G (p.Ile250Val) c.784A>G (p.Ile262Val) c.808A>G (p.Ile270Val) c.577A>G (p.Ile193Val) | gnomAD v4 |
4 | g.99420610T>G | CA357497512 | ADH7 | c.748A>C (p.Ile250Leu) c.784A>C (p.Ile262Leu) c.808A>C (p.Ile270Leu) c.577A>C (p.Ile193Leu) | |
4 | g.99420611G>A | CA440506400 | ADH7 | c.747C>T (p.Pro249=) c.783C>T (p.Pro261=) c.807C>T (p.Pro269=) c.576C>T (p.Pro192=) | |
4 | g.99420611G>C | CA440506401 | ADH7 | c.747C>G (p.Pro249=) c.783C>G (p.Pro261=) c.807C>G (p.Pro269=) c.576C>G (p.Pro192=) | |
4 | g.99420611G>T | CA440506402 | ADH7 | c.747C>A (p.Pro249=) c.783C>A (p.Pro261=) c.807C>A (p.Pro269=) c.576C>A (p.Pro192=) | |
4 | g.99420612G>A | CA357497515 | ADH7 | c.746C>T (p.Pro249Leu) c.782C>T (p.Pro261Leu) c.806C>T (p.Pro269Leu) c.575C>T (p.Pro192Leu) | |
4 | g.99420612G>C | CA357497514 | ADH7 | c.746C>G (p.Pro249Arg) c.782C>G (p.Pro261Arg) c.806C>G (p.Pro269Arg) c.575C>G (p.Pro192Arg) | |
4 | g.99420612G>T | CA357497513 | ADH7 | c.746C>A (p.Pro249His) c.782C>A (p.Pro261His) c.806C>A (p.Pro269His) c.575C>A (p.Pro192His) | |
4 | g.99420613G>A | CA357497516 | ADH7 | c.745C>T (p.Pro249Ser) c.781C>T (p.Pro261Ser) c.805C>T (p.Pro269Ser) c.574C>T (p.Pro192Ser) | dbSNP gnomAD v4 |
4 | g.99420613G>C | CA357497518 | ADH7 | c.745C>G (p.Pro249Ala) c.781C>G (p.Pro261Ala) c.805C>G (p.Pro269Ala) c.574C>G (p.Pro192Ala) | |
4 | g.99420613G= | CA1479994118 | ADH7 | c.745C= (p.Pro249=) c.781C= (p.Pro261=) c.805C= (p.Pro269=) c.574C= (p.Pro192=) | |
4 | g.99420613G>T | CA357497517 | ADH7 | c.745C>A (p.Pro249Thr) c.781C>A (p.Pro261Thr) c.805C>A (p.Pro269Thr) c.574C>A (p.Pro192Thr) | |
4 | g.99420614T>A | CA357497519 | ADH7 | c.744A>T (p.Lys248Asn) c.780A>T (p.Lys260Asn) c.804A>T (p.Lys268Asn) c.573A>T (p.Lys191Asn) | |
4 | g.99420614T>C | CA440506403 | ADH7 | c.744A>G (p.Lys248=) c.780A>G (p.Lys260=) c.804A>G (p.Lys268=) c.573A>G (p.Lys191=) | |
4 | g.99420614T>G | CA357497520 | ADH7 | c.744A>C (p.Lys248Asn) c.780A>C (p.Lys260Asn) c.804A>C (p.Lys268Asn) c.573A>C (p.Lys191Asn) | |
4 | g.99420615T>A | CA357497521 | ADH7 | c.743A>T (p.Lys248Ile) c.779A>T (p.Lys260Ile) c.803A>T (p.Lys268Ile) c.572A>T (p.Lys191Ile) | |
4 | g.99420615T>C | CA357497522 | ADH7 | c.743A>G (p.Lys248Arg) c.779A>G (p.Lys260Arg) c.803A>G (p.Lys268Arg) c.572A>G (p.Lys191Arg) | |
4 | g.99420615T>G | CA357497523 | ADH7 | c.743A>C (p.Lys248Thr) c.779A>C (p.Lys260Thr) c.803A>C (p.Lys268Thr) c.572A>C (p.Lys191Thr) | |
4 | g.99420619_99420630del | CA2671525111 | ADH7 | c.732_743del (p.Asp245_Lys248del) c.768_779del (p.Asp257_Lys260del) c.792_803del (p.Asp265_Lys268del) c.561_572del (p.Asp188_Lys191del) | gnomAD v4 |
4 | g.99420616T>A | CA357497524 | ADH7 | c.742A>T (p.Lys248Ter) c.778A>T (p.Lys260Ter) c.802A>T (p.Lys268Ter) c.571A>T (p.Lys191Ter) | |
4 | g.99420616T>C | CA357497525 | ADH7 | c.742A>G (p.Lys248Glu) c.778A>G (p.Lys260Glu) c.802A>G (p.Lys268Glu) c.571A>G (p.Lys191Glu) | |
4 | g.99420616T>G | CA357497526 | ADH7 | c.742A>C (p.Lys248Gln) c.778A>C (p.Lys260Gln) c.802A>C (p.Lys268Gln) c.571A>C (p.Lys191Gln) | |
4 | g.99420617G>A | CA440506404 | ADH7 | c.741C>T (p.Thr247=) c.777C>T (p.Thr259=) c.801C>T (p.Thr267=) c.570C>T (p.Thr190=) | |
4 | g.99420617G>C | CA440506405 | ADH7 | c.741C>G (p.Thr247=) c.777C>G (p.Thr259=) c.801C>G (p.Thr267=) c.570C>G (p.Thr190=) | |
4 | g.99420617G= | CA1479994123 | ADH7 | c.741C= (p.Thr247=) c.777C= (p.Thr259=) c.801C= (p.Thr267=) c.570C= (p.Thr190=) | |
4 | g.99420617G>T | CA440506406 | ADH7 | c.741C>A (p.Thr247=) c.777C>A (p.Thr259=) c.801C>A (p.Thr267=) c.570C>A (p.Thr190=) | dbSNP gnomAD v4 |
4 | g.99420618G>A | CA357497527 | ADH7 | c.740C>T (p.Thr247Ile) c.776C>T (p.Thr259Ile) c.800C>T (p.Thr267Ile) c.569C>T (p.Thr190Ile) | gnomAD v4 |
4 | g.99420618G>C | CA357497528 | ADH7 | c.740C>G (p.Thr247Ser) c.776C>G (p.Thr259Ser) c.800C>G (p.Thr267Ser) c.569C>G (p.Thr190Ser) | |
4 | g.99420618G= | CA1479994127 | ADH7 | c.740C= (p.Thr247=) c.776C= (p.Thr259=) c.800C= (p.Thr267=) c.569C= (p.Thr190=) | |
4 | g.99420618G>T | CA357497529 | ADH7 | c.740C>A (p.Thr247Asn) c.776C>A (p.Thr259Asn) c.800C>A (p.Thr267Asn) c.569C>A (p.Thr190Asn) | dbSNP |
4 | g.99420619T>A | CA357497532 | ADH7 | c.739A>T (p.Thr247Ser) c.775A>T (p.Thr259Ser) c.799A>T (p.Thr267Ser) c.568A>T (p.Thr190Ser) | |
4 | g.99420619T>C | CA357497531 | ADH7 | c.739A>G (p.Thr247Ala) c.775A>G (p.Thr259Ala) c.799A>G (p.Thr267Ala) c.568A>G (p.Thr190Ala) | |
4 | g.99420619T>G | CA357497530 | ADH7 | c.739A>C (p.Thr247Pro) c.775A>C (p.Thr259Pro) c.799A>C (p.Thr267Pro) c.568A>C (p.Thr190Pro) | |
4 | g.99420620A= | CA1479994132 | ADH7 | c.738T= (p.Ser246=) c.774T= (p.Ser258=) c.798T= (p.Ser266=) c.567T= (p.Ser189=) | |
4 | g.99420620A>C | CA440506407 | ADH7 | c.738T>G (p.Ser246=) c.774T>G (p.Ser258=) c.798T>G (p.Ser266=) c.567T>G (p.Ser189=) | |
4 | g.99420620A>G | CA3020736 | ADH7 | c.738T>C (p.Ser246=) c.774T>C (p.Ser258=) c.798T>C (p.Ser266=) c.567T>C (p.Ser189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420620A>T | CA440506408 | ADH7 | c.738T>A (p.Ser246=) c.774T>A (p.Ser258=) c.798T>A (p.Ser266=) c.567T>A (p.Ser189=) | |
4 | g.99420621G>A | CA102645860 | ADH7 | c.737C>T (p.Ser246Phe) c.773C>T (p.Ser258Phe) c.797C>T (p.Ser266Phe) c.566C>T (p.Ser189Phe) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420621G>C | CA357497533 | ADH7 | c.737C>G (p.Ser246Cys) c.773C>G (p.Ser258Cys) c.797C>G (p.Ser266Cys) c.566C>G (p.Ser189Cys) | gnomAD v4 |
4 | g.99420621G= | CA1479994135 | ADH7 | c.737C= (p.Ser246=) c.773C= (p.Ser258=) c.797C= (p.Ser266=) c.566C= (p.Ser189=) | |
4 | g.99420621G>T | CA357497534 | ADH7 | c.737C>A (p.Ser246Tyr) c.773C>A (p.Ser258Tyr) c.797C>A (p.Ser266Tyr) c.566C>A (p.Ser189Tyr) | |
4 | g.99420622A>C | CA357497535 | ADH7 | c.736T>G (p.Ser246Ala) c.772T>G (p.Ser258Ala) c.796T>G (p.Ser266Ala) c.565T>G (p.Ser189Ala) | |
4 | g.99420622A>G | CA357497536 | ADH7 | c.736T>C (p.Ser246Pro) c.772T>C (p.Ser258Pro) c.796T>C (p.Ser266Pro) c.565T>C (p.Ser189Pro) | gnomAD v4 |
4 | g.99420622A>T | CA357497537 | ADH7 | c.736T>A (p.Ser246Thr) c.772T>A (p.Ser258Thr) c.796T>A (p.Ser266Thr) c.565T>A (p.Ser189Thr) | |
4 | g.99420623G>A | CA440506409 | ADH7 | c.735C>T (p.Asp245=) c.771C>T (p.Asp257=) c.795C>T (p.Asp265=) c.564C>T (p.Asp188=) | |
4 | g.99420623G>C | CA357497538 | ADH7 | c.735C>G (p.Asp245Glu) c.771C>G (p.Asp257Glu) c.795C>G (p.Asp265Glu) c.564C>G (p.Asp188Glu) | |
4 | g.99420623G= | CA1479994138 | ADH7 | c.735C= (p.Asp245=) c.771C= (p.Asp257=) c.795C= (p.Asp265=) c.564C= (p.Asp188=) | |
4 | g.99420623G>T | CA3020737 | ADH7 | c.735C>A (p.Asp245Glu) c.771C>A (p.Asp257Glu) c.795C>A (p.Asp265Glu) c.564C>A (p.Asp188Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420624T>A | CA357497539 | ADH7 | c.734A>T (p.Asp245Val) c.770A>T (p.Asp257Val) c.794A>T (p.Asp265Val) c.563A>T (p.Asp188Val) | |
4 | g.99420624T>C | CA357497540 | ADH7 | c.734A>G (p.Asp245Gly) c.770A>G (p.Asp257Gly) c.794A>G (p.Asp265Gly) c.563A>G (p.Asp188Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420624T>G | CA357497541 | ADH7 | c.734A>C (p.Asp245Ala) c.770A>C (p.Asp257Ala) c.794A>C (p.Asp265Ala) c.563A>C (p.Asp188Ala) | |
4 | g.99420624T= | CA1479994142 | ADH7 | c.734A= (p.Asp245=) c.770A= (p.Asp257=) c.794A= (p.Asp265=) c.563A= (p.Asp188=) | |
4 | g.99420625C>A | CA357497543 | ADH7 | c.733G>T (p.Asp245Tyr) c.769G>T (p.Asp257Tyr) c.793G>T (p.Asp265Tyr) c.562G>T (p.Asp188Tyr) | gnomAD v4 |
4 | g.99420625C= | CA1479994146 | ADH7 | c.733G= (p.Asp245=) c.769G= (p.Asp257=) c.793G= (p.Asp265=) c.562G= (p.Asp188=) | |
4 | g.99420625C>G | CA357497542 | ADH7 | c.733G>C (p.Asp245His) c.769G>C (p.Asp257His) c.793G>C (p.Asp265His) c.562G>C (p.Asp188His) | |
4 | g.99420625C>T | CA3020738 | ADH7 | c.733G>A (p.Asp245Asn) c.769G>A (p.Asp257Asn) c.793G>A (p.Asp265Asn) c.562G>A (p.Asp188Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420626C>A | CA357497544 | ADH7 | c.732G>T (p.Lys244Asn) c.768G>T (p.Lys256Asn) c.792G>T (p.Lys264Asn) c.561G>T (p.Lys187Asn) | |
4 | g.99420626C= | CA1479994148 | ADH7 | c.732G= (p.Lys244=) c.768G= (p.Lys256=) c.792G= (p.Lys264=) c.561G= (p.Lys187=) | |
4 | g.99420626C>G | CA357497545 | ADH7 | c.732G>C (p.Lys244Asn) c.768G>C (p.Lys256Asn) c.792G>C (p.Lys264Asn) c.561G>C (p.Lys187Asn) | |
4 | g.99420626C>T | CA102645891 | ADH7 | c.732G>A (p.Lys244=) c.768G>A (p.Lys256=) c.792G>A (p.Lys264=) c.561G>A (p.Lys187=) | dbSNP COSMIC COSMIC |
4 | g.99420627T>A | CA357497546 | ADH7 | c.731A>T (p.Lys244Met) c.767A>T (p.Lys256Met) c.791A>T (p.Lys264Met) c.560A>T (p.Lys187Met) | |
4 | g.99420627T>C | CA357497547 | ADH7 | c.731A>G (p.Lys244Arg) c.767A>G (p.Lys256Arg) c.791A>G (p.Lys264Arg) c.560A>G (p.Lys187Arg) | dbSNP gnomAD v4 |
4 | g.99420627T>G | CA357497548 | ADH7 | c.731A>C (p.Lys244Thr) c.767A>C (p.Lys256Thr) c.791A>C (p.Lys264Thr) c.560A>C (p.Lys187Thr) | |
4 | g.99420627T= | CA1479994152 | ADH7 | c.731A= (p.Lys244=) c.767A= (p.Lys256=) c.791A= (p.Lys264=) c.560A= (p.Lys187=) | |
4 | g.99420628T>A | CA357497549 | ADH7 | c.730A>T (p.Lys244Ter) c.766A>T (p.Lys256Ter) c.790A>T (p.Lys264Ter) c.559A>T (p.Lys187Ter) | gnomAD v4 |
4 | g.99420628T>C | CA357497550 | ADH7 | c.730A>G (p.Lys244Glu) c.766A>G (p.Lys256Glu) c.790A>G (p.Lys264Glu) c.559A>G (p.Lys187Glu) | |
4 | g.99420628T>G | CA357497551 | ADH7 | c.730A>C (p.Lys244Gln) c.766A>C (p.Lys256Gln) c.790A>C (p.Lys264Gln) c.559A>C (p.Lys187Gln) | |
4 | g.99420628T= | CA1479994154 | ADH7 | c.730A= (p.Lys244=) c.766A= (p.Lys256=) c.790A= (p.Lys264=) c.559A= (p.Lys187=) | |
4 | g.99420629G>A | CA440506410 | ADH7 | c.729C>T (p.Pro243=) c.765C>T (p.Pro255=) c.789C>T (p.Pro263=) c.558C>T (p.Pro186=) | |
4 | g.99420629G>C | CA440506411 | ADH7 | c.729C>G (p.Pro243=) c.765C>G (p.Pro255=) c.789C>G (p.Pro263=) c.558C>G (p.Pro186=) | |
4 | g.99420629G>T | CA440506412 | ADH7 | c.729C>A (p.Pro243=) c.765C>A (p.Pro255=) c.789C>A (p.Pro263=) c.558C>A (p.Pro186=) | COSMIC COSMIC |
4 | g.99420629_99420664dup | CA553568164 | ADH7 | c.694_729dup (p.Pro243_Lys244insAlaMetAlaValGlyAlaThrGluCysIleSerPro) c.730_765dup (p.Pro255_Lys256insAlaMetAlaValGlyAlaThrGluCysIleSerPro) c.754_789dup (p.Pro263_Lys264insAlaMetAlaValGlyAlaThrGluCysIleSerPro) c.523_558dup (p.Pro186_Lys187insAlaMetAlaValGlyAlaThrGluCysIleSerPro) | dbSNP gnomAD v2 gnomAD v4 |