Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.49621758_49621764dupCA2530660219MGAT2c.490_496dup (p.Gly166AspfsTer23)
14g.49621764G>ACA7172561MGAT2c.496G>A (p.Gly166Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621764G>CCA389619245MGAT2c.496G>C (p.Gly166Arg)
14g.49621764G=CA2135804612MGAT2c.496G= (p.Gly166=)
14g.49621764G>TCA7172560MGAT2c.496G>T (p.Gly166Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621767dupCA2135804613MGAT2c.499dup (p.Val167GlyfsTer20)
dbSNP
14g.49621767delCA2553065471MGAT2c.499del (p.Val167Ter)
gnomAD v4
14g.49621765G>ACA389619255MGAT2c.497G>A (p.Gly166Glu)
14g.49621765G>CCA389619257MGAT2c.497G>C (p.Gly166Ala)
dbSNP gnomAD v3 gnomAD v4
14g.49621765G=CA2135804617MGAT2c.497G= (p.Gly166=)
14g.49621765G>TCA389619259MGAT2c.497G>T (p.Gly166Val)
dbSNP
14g.49621766G>ACA486350076MGAT2c.498G>A (p.Gly166=)
dbSNP
14g.49621766G>CCA486350078MGAT2c.498G>C (p.Gly166=)
14g.49621766G>TCA486350079MGAT2c.498G>T (p.Gly166=)
gnomAD v4 COSMIC
14g.49621767G>ACA389619261MGAT2c.499G>A (p.Val167Met)
14g.49621767G>CCA389619263MGAT2c.499G>C (p.Val167Leu)
14g.49621767G=CA2135804620MGAT2c.499G= (p.Val167=)
14g.49621767G>TCA389619264MGAT2c.499G>T (p.Val167Leu)
dbSNP gnomAD v2 gnomAD v4
14g.49621768T>ACA389619266MGAT2c.500T>A (p.Val167Glu)
14g.49621768T>CCA389619267MGAT2c.500T>C (p.Val167Ala)
14g.49621768T>GCA389619269MGAT2c.500T>G (p.Val167Gly)
dbSNP
14g.49621768T=CA2135804624MGAT2c.500T= (p.Val167=)
14g.49621769G>ACA486350082MGAT2c.501G>A (p.Val167=)
14g.49621769G>CCA486350083MGAT2c.501G>C (p.Val167=)
14g.49621769G>TCA486350085MGAT2c.501G>T (p.Val167=)
14g.49621770A>CCA389619274MGAT2c.502A>C (p.Asn168His)
14g.49621770A>GCA389619271MGAT2c.502A>G (p.Asn168Asp)
14g.49621770A>TCA389619272MGAT2c.502A>T (p.Asn168Tyr)
14g.49621771A>CCA389619276MGAT2c.503A>C (p.Asn168Thr)
14g.49621771A>GCA389619278MGAT2c.503A>G (p.Asn168Ser)
14g.49621771A>TCA389619280MGAT2c.503A>T (p.Asn168Ile)
14g.49621772T>ACA389619282MGAT2c.504T>A (p.Asn168Lys)
14g.49621772T>CCA486350088MGAT2c.504T>C (p.Asn168=)
dbSNP gnomAD v3 gnomAD v4
14g.49621772T>GCA389619284MGAT2c.504T>G (p.Asn168Lys)
14g.49621772T=CA2135804625MGAT2c.504T= (p.Asn168=)
14g.49621773T>ACA389619286MGAT2c.505T>A (p.Phe169Ile)
14g.49621773T>CCA389619288MGAT2c.505T>C (p.Phe169Leu)
14g.49621773T>GCA389619289MGAT2c.505T>G (p.Phe169Val)
14g.49621774T>ACA389619290MGAT2c.506T>A (p.Phe169Tyr)
14g.49621774T>CCA389619292MGAT2c.506T>C (p.Phe169Ser)
14g.49621774T>GCA389619294MGAT2c.506T>G (p.Phe169Cys)
14g.49621776_49621779delCA2624726675MGAT2c.508_511del (p.Cys170ArgfsTer?)
gnomAD v4
14g.49621775C>ACA389619298MGAT2c.507C>A (p.Phe169Leu)
14g.49621775C>GCA389619296MGAT2c.507C>G (p.Phe169Leu)
14g.49621775C>TCA486350093MGAT2c.507C>T (p.Phe169=)
COSMIC
14g.49621776T>ACA389619301MGAT2c.508T>A (p.Cys170Ser)
14g.49621776T>CCA389619302MGAT2c.508T>C (p.Cys170Arg)
14g.49621776T>GCA389619305MGAT2c.508T>G (p.Cys170Gly)
14g.49621777G>ACA7172562MGAT2c.509G>A (p.Cys170Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621777G>CCA389619307MGAT2c.509G>C (p.Cys170Ser)
dbSNP gnomAD v4
14g.49621777G=CA2135804627MGAT2c.509G= (p.Cys170=)
14g.49621777G>TCA389619308MGAT2c.509G>T (p.Cys170Phe)
14g.49621778T>ACA389619311MGAT2c.510T>A (p.Cys170Ter)
COSMIC
14g.49621778T>CCA486350103MGAT2c.510T>C (p.Cys170=)
14g.49621778T>GCA389619310MGAT2c.510T>G (p.Cys170Trp)
14g.49621779C>ACA389619314MGAT2c.511C>A (p.Pro171Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.49621779C=CA2135804630MGAT2c.511C= (p.Pro171=)
14g.49621779C>GCA389619315MGAT2c.511C>G (p.Pro171Ala)
14g.49621779C>TCA389619316MGAT2c.511C>T (p.Pro171Ser)
14g.49621780C>ACA389619319MGAT2c.512C>A (p.Pro171Gln)
14g.49621780C=CA2135804633MGAT2c.512C= (p.Pro171=)
14g.49621780C>GCA260660696MGAT2c.512C>G (p.Pro171Arg)
dbSNP
14g.49621780C>TCA389619321MGAT2c.512C>T (p.Pro171Leu)
gnomAD v4
14g.49621781G>ACA486350120MGAT2c.513G>A (p.Pro171=)
14g.49621781G>CCA486350119MGAT2c.513G>C (p.Pro171=)
gnomAD v4
14g.49621781G>TCA486350118MGAT2c.513G>T (p.Pro171=)
gnomAD v4 COSMIC
14g.49621782delCA2801518199MGAT2c.514del (p.Val172PhefsTer?)
14g.49621782G>ACA7172563MGAT2c.514G>A (p.Val172Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621782G>CCA389619326MGAT2c.514G>C (p.Val172Leu)
dbSNP gnomAD v3 gnomAD v4
14g.49621782G=CA2135804636MGAT2c.514G= (p.Val172=)
14g.49621782G>TCA389619324MGAT2c.514G>T (p.Val172Phe)
COSMIC
14g.49621783T>ACA389619327MGAT2c.515T>A (p.Val172Asp)
14g.49621783T>CCA7172564MGAT2c.515T>C (p.Val172Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621783T>GCA389619328MGAT2c.515T>G (p.Val172Gly)
14g.49621783T=CA2135804640MGAT2c.515T= (p.Val172=)
14g.49621784T>ACA486350124MGAT2c.516T>A (p.Val172=)
dbSNP gnomAD v2 gnomAD v4
14g.49621784T>CCA486350128MGAT2c.516T>C (p.Val172=)
14g.49621784T>GCA486350127MGAT2c.516T>G (p.Val172=)
14g.49621784T=CA2135804641MGAT2c.516T= (p.Val172=)
14g.49621785C>ACA7172565MGAT2c.517C>A (p.Leu173Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621785C=CA2135804643MGAT2c.517C= (p.Leu173=)
14g.49621785C>GCA389619329MGAT2c.517C>G (p.Leu173Val)
14g.49621785C>TCA486350130MGAT2c.517C>T (p.Leu173=)
gnomAD v4
14g.49621786T>ACA389619330MGAT2c.518T>A (p.Leu173Gln)
14g.49621786T>CCA389619331MGAT2c.518T>C (p.Leu173Pro)
14g.49621786T>GCA389619332MGAT2c.518T>G (p.Leu173Arg)
14g.49621787G>ACA486350131MGAT2c.519G>A (p.Leu173=)
gnomAD v4
14g.49621787G>CCA486350132MGAT2c.519G>C (p.Leu173=)
14g.49621787G>TCA486350134MGAT2c.519G>T (p.Leu173=)
14g.49621788C>ACA389619333MGAT2c.520C>A (p.Gln174Lys)
14g.49621788C>GCA389619334MGAT2c.520C>G (p.Gln174Glu)
14g.49621788C>TCA389619335MGAT2c.520C>T (p.Gln174Ter)
14g.49621789A>CCA389619337MGAT2c.521A>C (p.Gln174Pro)
14g.49621789A>GCA389619338MGAT2c.521A>G (p.Gln174Arg)
14g.49621789A>TCA389619336MGAT2c.521A>T (p.Gln174Leu)
14g.49621790G>ACA486350139MGAT2c.522G>A (p.Gln174=)
14g.49621790G>CCA389619340MGAT2c.522G>C (p.Gln174His)
14g.49621790G>TCA389619339MGAT2c.522G>T (p.Gln174His)
14g.49621790_49621791delCA2624726676MGAT2c.522_523del (p.Gln174HisfsTer12)
gnomAD v4
14g.49621791G>ACA389619341MGAT2c.523G>A (p.Val175Met)
14g.49621791G>CCA389619342MGAT2c.523G>C (p.Val175Leu)
gnomAD v4
14g.49621791G>TCA389619343MGAT2c.523G>T (p.Val175Leu)
14g.49621792T>ACA389619344MGAT2c.524T>A (p.Val175Glu)
14g.49621792T>CCA389619345MGAT2c.524T>C (p.Val175Ala)
14g.49621792T>GCA389619346MGAT2c.524T>G (p.Val175Gly)
14g.49621793G>ACA486350145MGAT2c.525G>A (p.Val175=)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.49621793G>CCA486350148MGAT2c.525G>C (p.Val175=)
14g.49621793G=CA2135804644MGAT2c.525G= (p.Val175=)
14g.49621793G>TCA486350151MGAT2c.525G>T (p.Val175=)
14g.49621794T>ACA389619348MGAT2c.526T>A (p.Phe176Ile)
14g.49621794T>CCA389619347MGAT2c.526T>C (p.Phe176Leu)
14g.49621794T>GCA260660703MGAT2c.526T>G (p.Phe176Val)
dbSNP
14g.49621794T=CA2135804646MGAT2c.526T= (p.Phe176=)
14g.49621794_49621796delinsTTCCA2135804650MGAT2c.526_528delinsTTC (p.Phe176=)
14g.49621795T>ACA389619349MGAT2c.527T>A (p.Phe176Tyr)
gnomAD v4
14g.49621795T>CCA389619350MGAT2c.527T>C (p.Phe176Ser)
gnomAD v4
14g.49621795T>GCA389619351MGAT2c.527T>G (p.Phe176Cys)
14g.49621796_49621797delCA2135804654MGAT2c.528_529del (p.Phe177SerfsTer9)
dbSNP
14g.49621796C>ACA389619352MGAT2c.528C>A (p.Phe176Leu)
14g.49621796C>GCA389619353MGAT2c.528C>G (p.Phe176Leu)
COSMIC
14g.49621796C>TCA486350153MGAT2c.528C>T (p.Phe176=)
gnomAD v4
14g.49621797T>ACA389619354MGAT2c.529T>A (p.Phe177Ile)
14g.49621797T>CCA389619356MGAT2c.529T>C (p.Phe177Leu)
14g.49621797T>GCA389619355MGAT2c.529T>G (p.Phe177Val)
14g.49621798T>ACA389619357MGAT2c.530T>A (p.Phe177Tyr)
14g.49621798T>CCA389619358MGAT2c.530T>C (p.Phe177Ser)
14g.49621798T>GCA389619359MGAT2c.530T>G (p.Phe177Cys)
14g.49621799T>ACA389619360MGAT2c.531T>A (p.Phe177Leu)
14g.49621799T>CCA7172566MGAT2c.531T>C (p.Phe177=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621799T>GCA389619361MGAT2c.531T>G (p.Phe177Leu)
dbSNP gnomAD v2 gnomAD v4
14g.49621799T=CA2135804657MGAT2c.531T= (p.Phe177=)
14g.49621800C>ACA389619362MGAT2c.532C>A (p.Pro178Thr)
14g.49621800C>GCA389619363MGAT2c.532C>G (p.Pro178Ala)
14g.49621800C>TCA389619364MGAT2c.532C>T (p.Pro178Ser)
14g.49621801C>ACA389619365MGAT2c.533C>A (p.Pro178His)
14g.49621801C>GCA389619366MGAT2c.533C>G (p.Pro178Arg)
14g.49621801C>TCA389619367MGAT2c.533C>T (p.Pro178Leu)
14g.49621802T>ACA486350163MGAT2c.534T>A (p.Pro178=)
14g.49621802T>CCA486350165MGAT2c.534T>C (p.Pro178=)
14g.49621802T>GCA486350166MGAT2c.534T>G (p.Pro178=)
14g.49621803T>ACA389619368MGAT2c.535T>A (p.Phe179Ile)
14g.49621803T>CCA389619370MGAT2c.535T>C (p.Phe179Leu)
14g.49621803T>GCA389619369MGAT2c.535T>G (p.Phe179Val)
14g.49621804T>ACA389619371MGAT2c.536T>A (p.Phe179Tyr)
14g.49621804T>CCA389619372MGAT2c.536T>C (p.Phe179Ser)
14g.49621804T>GCA389619373MGAT2c.536T>G (p.Phe179Cys)
14g.49621805C>ACA389619374MGAT2c.537C>A (p.Phe179Leu)
14g.49621805C=CA2135804659MGAT2c.537C= (p.Phe179=)
14g.49621805C>GCA389619375MGAT2c.537C>G (p.Phe179Leu)
14g.49621805C>TCA486350168MGAT2c.537C>T (p.Phe179=)
dbSNP gnomAD v3 gnomAD v4
14g.49621806A=CA2135804660MGAT2c.538A= (p.Ser180=)
14g.49621806A>CCA389619376MGAT2c.538A>C (p.Ser180Arg)
14g.49621806A>GCA7172567MGAT2c.538A>G (p.Ser180Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621806A>TCA389619377MGAT2c.538A>T (p.Ser180Cys)
14g.49621807G>ACA389619378MGAT2c.539G>A (p.Ser180Asn)
14g.49621807G>CCA389619379MGAT2c.539G>C (p.Ser180Thr)
14g.49621807G>TCA389619380MGAT2c.539G>T (p.Ser180Ile)
14g.49621808C>ACA389619381MGAT2c.540C>A (p.Ser180Arg)
14g.49621808C>GCA389619382MGAT2c.540C>G (p.Ser180Arg)
14g.49621808C>TCA486350174MGAT2c.540C>T (p.Ser180=)
gnomAD v4
14g.49621809A=CA2135804661MGAT2c.541A= (p.Ile181=)
14g.49621809A>CCA389619385MGAT2c.541A>C (p.Ile181Leu)
14g.49621809A>GCA389619383MGAT2c.541A>G (p.Ile181Val)
dbSNP gnomAD v4
14g.49621809A>TCA389619384MGAT2c.541A>T (p.Ile181Phe)
14g.49621810T>ACA389619386MGAT2c.542T>A (p.Ile181Asn)
14g.49621810T>CCA389619387MGAT2c.542T>C (p.Ile181Thr)
14g.49621810T>GCA389619388MGAT2c.542T>G (p.Ile181Ser)
14g.49621811T>ACA486350178MGAT2c.543T>A (p.Ile181=)
14g.49621811T>CCA486350179MGAT2c.543T>C (p.Ile181=)
14g.49621811T>GCA389619389MGAT2c.543T>G (p.Ile181Met)
14g.49621812C>ACA389619390MGAT2c.544C>A (p.Gln182Lys)
14g.49621812C=CA2135804665MGAT2c.544C= (p.Gln182=)
14g.49621812C>GCA7172568MGAT2c.544C>G (p.Gln182Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621812C>TCA389619391MGAT2c.544C>T (p.Gln182Ter)
14g.49621813A=CA2135804671MGAT2c.545A= (p.Gln182=)
14g.49621813A>CCA389619392MGAT2c.545A>C (p.Gln182Pro)
14g.49621813A>GCA7172569MGAT2c.545A>G (p.Gln182Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621813A>TCA389619393MGAT2c.545A>T (p.Gln182Leu)
14g.49621814G>ACA486350190MGAT2c.546G>A (p.Gln182=)
dbSNP
14g.49621814G>CCA389619394MGAT2c.546G>C (p.Gln182His)
dbSNP gnomAD v3 gnomAD v4
14g.49621814G=CA2135804672MGAT2c.546G= (p.Gln182=)
14g.49621814G>TCA7172570MGAT2c.546G>T (p.Gln182His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621815T>ACA389619395MGAT2c.547T>A (p.Leu183Met)
14g.49621815T>CCA486350191MGAT2c.547T>C (p.Leu183=)
14g.49621815T>GCA389619396MGAT2c.547T>G (p.Leu183Val)
14g.49621816T>ACA389619397MGAT2c.548T>A (p.Leu183Ter)
14g.49621816T>CCA389619398MGAT2c.548T>C (p.Leu183Ser)
gnomAD v4
14g.49621816T>GCA389619399MGAT2c.548T>G (p.Leu183Trp)
14g.49621817G>ACA486350194MGAT2c.549G>A (p.Leu183=)
14g.49621817G>CCA389619400MGAT2c.549G>C (p.Leu183Phe)
14g.49621817G=CA2135804675MGAT2c.549G= (p.Leu183=)
14g.49621817G>TCA389619401MGAT2c.549G>T (p.Leu183Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621818T>ACA389619402MGAT2c.550T>A (p.Tyr184Asn)
14g.49621818T>CCA389619403MGAT2c.550T>C (p.Tyr184His)
dbSNP gnomAD v4
14g.49621818T>GCA389619404MGAT2c.550T>G (p.Tyr184Asp)
dbSNP gnomAD v2 gnomAD v4
14g.49621818T=CA2135804676MGAT2c.550T= (p.Tyr184=)
14g.49621819A>CCA389619405MGAT2c.551A>C (p.Tyr184Ser)
14g.49621819A>GCA389619406MGAT2c.551A>G (p.Tyr184Cys)
14g.49621819A>TCA389619407MGAT2c.551A>T (p.Tyr184Phe)
14g.49621820C>ACA389619408MGAT2c.552C>A (p.Tyr184Ter)
14g.49621820C>GCA389619409MGAT2c.552C>G (p.Tyr184Ter)
14g.49621820C>TCA486350201MGAT2c.552C>T (p.Tyr184=)
gnomAD v4 COSMIC
14g.49621821C>ACA389619412MGAT2c.553C>A (p.Pro185Thr)
14g.49621821C=CA2135804677MGAT2c.553C= (p.Pro185=)
14g.49621821C>GCA389619411MGAT2c.553C>G (p.Pro185Ala)
dbSNP gnomAD v3 gnomAD v4
14g.49621821C>TCA389619410MGAT2c.553C>T (p.Pro185Ser)
14g.49621822C>ACA389619413MGAT2c.554C>A (p.Pro185His)
14g.49621822C=CA2135804678MGAT2c.554C= (p.Pro185=)
14g.49621822C>GCA389619414MGAT2c.554C>G (p.Pro185Arg)
14g.49621822C>TCA7172571MGAT2c.554C>T (p.Pro185Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621823T>ACA486350204MGAT2c.555T>A (p.Pro185=)
14g.49621823T>CCA486350205MGAT2c.555T>C (p.Pro185=)
14g.49621823T>GCA486350206MGAT2c.555T>G (p.Pro185=)
14g.49621824A>CCA389619415MGAT2c.556A>C (p.Asn186His)
14g.49621824A>GCA389619416MGAT2c.556A>G (p.Asn186Asp)
gnomAD v4
14g.49621824A>TCA389619417MGAT2c.556A>T (p.Asn186Tyr)
14g.49621825A>CCA389619418MGAT2c.557A>C (p.Asn186Thr)
14g.49621825A>GCA389619419MGAT2c.557A>G (p.Asn186Ser)
14g.49621825A>TCA389619420MGAT2c.557A>T (p.Asn186Ile)
14g.49621826C>ACA389619421MGAT2c.558C>A (p.Asn186Lys)
14g.49621826C=CA2135804679MGAT2c.558C= (p.Asn186=)
14g.49621826C>GCA7172572MGAT2c.558C>G (p.Asn186Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621826C>TCA486350209MGAT2c.558C>T (p.Asn186=)
14g.49621827G>ACA389619422MGAT2c.559G>A (p.Glu187Lys)
14g.49621827G>CCA389619423MGAT2c.559G>C (p.Glu187Gln)
dbSNP gnomAD v4 COSMIC
14g.49621827G=CA2135804683MGAT2c.559G= (p.Glu187=)
14g.49621827G>TCA389619424MGAT2c.559G>T (p.Glu187Ter)
14g.49621828A>CCA389619426MGAT2c.560A>C (p.Glu187Ala)
14g.49621828A>GCA389619427MGAT2c.560A>G (p.Glu187Gly)
gnomAD v4
14g.49621828A>TCA389619425MGAT2c.560A>T (p.Glu187Val)
14g.49621829G>ACA486350215MGAT2c.561G>A (p.Glu187=)
gnomAD v4
14g.49621829G>CCA389619428MGAT2c.561G>C (p.Glu187Asp)
gnomAD v4
14g.49621829G>TCA389619429MGAT2c.561G>T (p.Glu187Asp)
gnomAD v4 COSMIC
14g.49621830T>ACA389619430MGAT2c.562T>A (p.Phe188Ile)
14g.49621830T>CCA389619431MGAT2c.562T>C (p.Phe188Leu)
14g.49621830T>GCA389619432MGAT2c.562T>G (p.Phe188Val)
14g.49621831T>ACA389619433MGAT2c.563T>A (p.Phe188Tyr)
14g.49621831T>CCA389619434MGAT2c.563T>C (p.Phe188Ser)
14g.49621831T>GCA389619435MGAT2c.563T>G (p.Phe188Cys)
14g.49621832T>ACA389619436MGAT2c.564T>A (p.Phe188Leu)
14g.49621832T>CCA486350223MGAT2c.564T>C (p.Phe188=)
14g.49621832T>GCA389619437MGAT2c.564T>G (p.Phe188Leu)
14g.49621833C>ACA389619438MGAT2c.565C>A (p.Pro189Thr)
gnomAD v4
14g.49621833C>GCA389619439MGAT2c.565C>G (p.Pro189Ala)
14g.49621833C>TCA389619440MGAT2c.565C>T (p.Pro189Ser)
14g.49621834C>ACA389619443MGAT2c.566C>A (p.Pro189Gln)
14g.49621834C>GCA389619441MGAT2c.566C>G (p.Pro189Arg)
gnomAD v4
14g.49621834C>TCA389619442MGAT2c.566C>T (p.Pro189Leu)
14g.49621835A>CCA486350228MGAT2c.567A>C (p.Pro189=)
14g.49621835A>GCA486350231MGAT2c.567A>G (p.Pro189=)
gnomAD v4 COSMIC
14g.49621835A>TCA486350233MGAT2c.567A>T (p.Pro189=)
14g.49621836G>ACA389619444MGAT2c.568G>A (p.Gly190Ser)
14g.49621836G>CCA389619445MGAT2c.568G>C (p.Gly190Arg)
gnomAD v4
14g.49621836G>TCA389619446MGAT2c.568G>T (p.Gly190Cys)
14g.49621837G>ACA389619447MGAT2c.569G>A (p.Gly190Asp)
dbSNP gnomAD v2 gnomAD v4
14g.49621837G>CCA389619448MGAT2c.569G>C (p.Gly190Ala)
14g.49621837G=CA2135804689MGAT2c.569G= (p.Gly190=)
14g.49621837G>TCA389619449MGAT2c.569G>T (p.Gly190Val)
dbSNP gnomAD v3 gnomAD v4
14g.49621838T>ACA486350235MGAT2c.570T>A (p.Gly190=)
14g.49621838T>CCA486350236MGAT2c.570T>C (p.Gly190=)
gnomAD v4
14g.49621838T>GCA486350237MGAT2c.570T>G (p.Gly190=)
14g.49621839A=CA2135804695MGAT2c.571A= (p.Ser191=)
14g.49621839A>CCA389619450MGAT2c.571A>C (p.Ser191Arg)
14g.49621839A>GCA7172573MGAT2c.571A>G (p.Ser191Gly)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.49621839A>TCA389619451MGAT2c.571A>T (p.Ser191Cys)
14g.49621840G>ACA7172574MGAT2c.572G>A (p.Ser191Asn)
dbSNP ExAC gnomAD v2
14g.49621840G>CCA389619452MGAT2c.572G>C (p.Ser191Thr)
dbSNP
14g.49621840G=CA2135804698MGAT2c.572G= (p.Ser191=)
14g.49621840G>TCA389619453MGAT2c.572G>T (p.Ser191Ile)
14g.49621841T>ACA389619454MGAT2c.573T>A (p.Ser191Arg)
14g.49621841T>CCA486350246MGAT2c.573T>C (p.Ser191=)
14g.49621841T>GCA389619455MGAT2c.573T>G (p.Ser191Arg)
14g.49621842G>ACA389619456MGAT2c.574G>A (p.Asp192Asn)
COSMIC
14g.49621842G>CCA389619458MGAT2c.574G>C (p.Asp192His)
14g.49621842G>TCA389619457MGAT2c.574G>T (p.Asp192Tyr)
14g.49621843A>CCA389619459MGAT2c.575A>C (p.Asp192Ala)
14g.49621843A>GCA389619461MGAT2c.575A>G (p.Asp192Gly)
14g.49621843A>TCA389619460MGAT2c.575A>T (p.Asp192Val)
gnomAD v4
14g.49621844C>ACA389619462MGAT2c.576C>A (p.Asp192Glu)
14g.49621844C=CA2135804701MGAT2c.576C= (p.Asp192=)
14g.49621844C>GCA389619463MGAT2c.576C>G (p.Asp192Glu)
14g.49621844C>TCA7172575MGAT2c.576C>T (p.Asp192=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621845C>ACA389619464MGAT2c.577C>A (p.Pro193Thr)
14g.49621845C=CA2135804702MGAT2c.577C= (p.Pro193=)
14g.49621845C>GCA389619465MGAT2c.577C>G (p.Pro193Ala)
dbSNP
14g.49621845C>TCA389619466MGAT2c.577C>T (p.Pro193Ser)
14g.49621846C>ACA389619467MGAT2c.578C>A (p.Pro193His)
14g.49621846C=CA2135804703MGAT2c.578C= (p.Pro193=)
14g.49621846C>GCA389619468MGAT2c.578C>G (p.Pro193Arg)
dbSNP
14g.49621846C>TCA7172576MGAT2c.578C>T (p.Pro193Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621847T>ACA486350264MGAT2c.579T>A (p.Pro193=)
14g.49621847T>CCA486350260MGAT2c.579T>C (p.Pro193=)
dbSNP gnomAD v4
14g.49621847T>GCA486350262MGAT2c.579T>G (p.Pro193=)
14g.49621847T=CA2135804704MGAT2c.579T= (p.Pro193=)
14g.49621848A>CCA486350265MGAT2c.580A>C (p.Arg194=)
14g.49621848A>GCA389619469MGAT2c.580A>G (p.Arg194Gly)
gnomAD v4
14g.49621848A>TCA389619470MGAT2c.580A>T (p.Arg194Ter)
14g.49621849G>ACA389619473MGAT2c.581G>A (p.Arg194Lys)
14g.49621849G>CCA389619471MGAT2c.581G>C (p.Arg194Thr)
gnomAD v4 COSMIC
14g.49621849G>TCA389619472MGAT2c.581G>T (p.Arg194Ile)
14g.49621850A=CA2135804705MGAT2c.582A= (p.Arg194=)
14g.49621850A>CCA389619474MGAT2c.582A>C (p.Arg194Ser)
gnomAD v4
14g.49621850A>GCA486350273MGAT2c.582A>G (p.Arg194=)
dbSNP
14g.49621850A>TCA389619475MGAT2c.582A>T (p.Arg194Ser)
14g.49621851G>ACA389619476MGAT2c.583G>A (p.Asp195Asn)
14g.49621851G>CCA389619477MGAT2c.583G>C (p.Asp195His)
14g.49621851G>TCA389619478MGAT2c.583G>T (p.Asp195Tyr)
gnomAD v4
14g.49621852A>CCA389619479MGAT2c.584A>C (p.Asp195Ala)
14g.49621852A>GCA389619480MGAT2c.584A>G (p.Asp195Gly)
14g.49621852A>TCA389619481MGAT2c.584A>T (p.Asp195Val)
14g.49621853T>ACA389619482MGAT2c.585T>A (p.Asp195Glu)
14g.49621853T>CCA486350274MGAT2c.585T>C (p.Asp195=)
gnomAD v4
14g.49621853T>GCA389619483MGAT2c.585T>G (p.Asp195Glu)
14g.49621853_49621854delCA912979636MGAT2c.585_586del (p.Asp195GlufsTer19)
14g.49621854T>ACA389619485MGAT2c.586T>A (p.Cys196Ser)
14g.49621854T>CCA389619486MGAT2c.586T>C (p.Cys196Arg)
14g.49621854T>GCA389619484MGAT2c.586T>G (p.Cys196Gly)
14g.49621855G>ACA389619487MGAT2c.587G>A (p.Cys196Tyr)
14g.49621855G>CCA389619488MGAT2c.587G>C (p.Cys196Ser)
14g.49621855G>TCA389619489MGAT2c.587G>T (p.Cys196Phe)
14g.49621856T>ACA389619490MGAT2c.588T>A (p.Cys196Ter)
14g.49621856T>CCA486350285MGAT2c.588T>C (p.Cys196=)
14g.49621856T>GCA389619491MGAT2c.588T>G (p.Cys196Trp)
14g.49621857C>ACA389619493MGAT2c.589C>A (p.Pro197Thr)
14g.49621857C=CA2135804706MGAT2c.589C= (p.Pro197=)
14g.49621857C>GCA7172577MGAT2c.589C>G (p.Pro197Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621857C>TCA389619492MGAT2c.589C>T (p.Pro197Ser)
14g.49621858C>ACA389619494MGAT2c.590C>A (p.Pro197His)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.49621858C=CA2135804707MGAT2c.590C= (p.Pro197=)
14g.49621858C>GCA389619495MGAT2c.590C>G (p.Pro197Arg)
dbSNP gnomAD v4
14g.49621858C>TCA389619496MGAT2c.590C>T (p.Pro197Leu)
dbSNP gnomAD v2 gnomAD v4
14g.49621859C>ACA486350288MGAT2c.591C>A (p.Pro197=)
14g.49621859C=CA2135804708MGAT2c.591C= (p.Pro197=)
14g.49621859C>GCA486350289MGAT2c.591C>G (p.Pro197=)
14g.49621859C>TCA486350291MGAT2c.591C>T (p.Pro197=)
ClinVar dbSNP gnomAD v4
14g.49621860A=CA2135804710MGAT2c.592A= (p.Arg198=)
14g.49621860A>CCA486350295MGAT2c.592A>C (p.Arg198=)
14g.49621860A>GCA389619497MGAT2c.592A>G (p.Arg198Gly)
dbSNP gnomAD v2 gnomAD v4
14g.49621860A>TCA389619498MGAT2c.592A>T (p.Arg198Ter)
14g.49621863_49621864delCA2575517489MGAT2c.595_596del (p.Asp199ProfsTer15)
gnomAD v4
14g.49621861G>ACA389619499MGAT2c.593G>A (p.Arg198Lys)
14g.49621861G>CCA389619501MGAT2c.593G>C (p.Arg198Thr)
14g.49621861G>TCA389619500MGAT2c.593G>T (p.Arg198Ile)
14g.49621862A>CCA389619502MGAT2c.594A>C (p.Arg198Ser)
14g.49621862A>GCA486350298MGAT2c.594A>G (p.Arg198=)
14g.49621862A>TCA389619503MGAT2c.594A>T (p.Arg198Ser)
14g.49621863G>ACA389619504MGAT2c.595G>A (p.Asp199Asn)
14g.49621863G>CCA389619505MGAT2c.595G>C (p.Asp199His)
14g.49621863G>TCA389619506MGAT2c.595G>T (p.Asp199Tyr)
gnomAD v4
14g.49621864A=CA2135804713MGAT2c.596A= (p.Asp199=)
14g.49621864A>CCA389619507MGAT2c.596A>C (p.Asp199Ala)
dbSNP
14g.49621864A>GCA389619508MGAT2c.596A>G (p.Asp199Gly)
gnomAD v4
14g.49621864A>TCA389619509MGAT2c.596A>T (p.Asp199Val)

Number of alleles fetched