Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.49621729A=CA2135804565MGAT2c.461A= (p.Asp154=)
14g.49621729A>CCA389619096MGAT2c.461A>C (p.Asp154Ala)
14g.49621729A>GCA389619097MGAT2c.461A>G (p.Asp154Gly)
dbSNP
14g.49621729A>TCA7172553MGAT2c.461A>T (p.Asp154Val)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621730C>ACA389619100MGAT2c.462C>A (p.Asp154Glu)
14g.49621730C=CA2135804567MGAT2c.462C= (p.Asp154=)
14g.49621730C>GCA389619102MGAT2c.462C>G (p.Asp154Glu)
dbSNP
14g.49621730C>TCA486349997MGAT2c.462C>T (p.Asp154=)
14g.49621731T>ACA7172554MGAT2c.463T>A (p.Phe155Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621731T>CCA260660671MGAT2c.463T>C (p.Phe155Leu)
dbSNP
14g.49621731T>GCA389619106MGAT2c.463T>G (p.Phe155Val)
14g.49621731T=CA2135804569MGAT2c.463T= (p.Phe155=)
14g.49621732T>ACA389619108MGAT2c.464T>A (p.Phe155Tyr)
14g.49621732T>CCA389619110MGAT2c.464T>C (p.Phe155Ser)
14g.49621732T>GCA389619111MGAT2c.464T>G (p.Phe155Cys)
14g.49621733C>ACA389619113MGAT2c.465C>A (p.Phe155Leu)
14g.49621733C>GCA389619115MGAT2c.465C>G (p.Phe155Leu)
gnomAD v4 COSMIC
14g.49621733C>TCA486350003MGAT2c.465C>T (p.Phe155=)
14g.49621734T>ACA389619117MGAT2c.466T>A (p.Trp156Arg)
14g.49621734T>CCA389619119MGAT2c.466T>C (p.Trp156Arg)
gnomAD v4
14g.49621734T>GCA389619121MGAT2c.466T>G (p.Trp156Gly)
14g.49621735G>ACA389619123MGAT2c.467G>A (p.Trp156Ter)
14g.49621735G>CCA389619126MGAT2c.467G>C (p.Trp156Ser)
14g.49621735G=CA2135804572MGAT2c.467G= (p.Trp156=)
14g.49621735G>TCA260660676MGAT2c.467G>T (p.Trp156Leu)
dbSNP gnomAD v2 gnomAD v4
14g.49621736G>ACA389619127MGAT2c.468G>A (p.Trp156Ter)
14g.49621736G>CCA389619131MGAT2c.468G>C (p.Trp156Cys)
14g.49621736G>TCA389619129MGAT2c.468G>T (p.Trp156Cys)
14g.49621737T>ACA389619132MGAT2c.469T>A (p.Ser157Thr)
14g.49621737T>CCA389619134MGAT2c.469T>C (p.Ser157Pro)
14g.49621737T>GCA389619136MGAT2c.469T>G (p.Ser157Ala)
14g.49621738C>ACA389619138MGAT2c.470C>A (p.Ser157Ter)
14g.49621738C=CA2135804576MGAT2c.470C= (p.Ser157=)
14g.49621738C>GCA389619140MGAT2c.470C>G (p.Ser157Trp)
14g.49621738C>TCA389619141MGAT2c.470C>T (p.Ser157Leu)
dbSNP gnomAD v3 gnomAD v4
14g.49621739G>ACA486350009MGAT2c.471G>A (p.Ser157=)
14g.49621739G>CCA486350010MGAT2c.471G>C (p.Ser157=)
dbSNP gnomAD v2 gnomAD v4
14g.49621739G=CA2135804577MGAT2c.471G= (p.Ser157=)
14g.49621739G>TCA486350011MGAT2c.471G>T (p.Ser157=)
gnomAD v4
14g.49621740A>CCA389619143MGAT2c.472A>C (p.Thr158Pro)
14g.49621740A>GCA389619145MGAT2c.472A>G (p.Thr158Ala)
14g.49621740A>TCA389619146MGAT2c.472A>T (p.Thr158Ser)
14g.49621741C>ACA389619149MGAT2c.473C>A (p.Thr158Asn)
14g.49621741C>GCA389619150MGAT2c.473C>G (p.Thr158Ser)
14g.49621741C>TCA389619152MGAT2c.473C>T (p.Thr158Ile)
gnomAD v4
14g.49621742C>ACA486350014MGAT2c.474C>A (p.Thr158=)
14g.49621742C=CA2135804579MGAT2c.474C= (p.Thr158=)
14g.49621742C>GCA7172555MGAT2c.474C>G (p.Thr158=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621742C>TCA486350016MGAT2c.474C>T (p.Thr158=)
14g.49621743G>ACA389619159MGAT2c.475G>A (p.Glu159Lys)
dbSNP
14g.49621743G>CCA389619157MGAT2c.475G>C (p.Glu159Gln)
14g.49621743G=CA2135804581MGAT2c.475G= (p.Glu159=)
14g.49621743G>TCA389619155MGAT2c.475G>T (p.Glu159Ter)
14g.49621744A=CA2135804585MGAT2c.476A= (p.Glu159=)
14g.49621744A>CCA389619161MGAT2c.476A>C (p.Glu159Ala)
14g.49621744A>GCA389619163MGAT2c.476A>G (p.Glu159Gly)
dbSNP gnomAD v2 gnomAD v4
14g.49621744A>TCA389619165MGAT2c.476A>T (p.Glu159Val)
14g.49621745G>ACA7172556MGAT2c.477G>A (p.Glu159=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621745G>CCA389619167MGAT2c.477G>C (p.Glu159Asp)
14g.49621745G=CA2135804587MGAT2c.477G= (p.Glu159=)
14g.49621745G>TCA389619169MGAT2c.477G>T (p.Glu159Asp)
14g.49621745_49621749delinsGATCACA2135804590MGAT2c.477_481delinsGATCA (p.Glu159=)
14g.49621746A>CCA389619171MGAT2c.478A>C (p.Ile160Leu)
14g.49621746A>GCA389619173MGAT2c.478A>G (p.Ile160Val)
14g.49621746A>TCA389619175MGAT2c.478A>T (p.Ile160Phe)
14g.49621750_49621753delCA2135804594MGAT2c.482_485del (p.Asn161SerfsTer2)
dbSNP
14g.49621747T>ACA389619177MGAT2c.479T>A (p.Ile160Asn)
14g.49621747T>CCA389619179MGAT2c.479T>C (p.Ile160Thr)
14g.49621747T>GCA389619181MGAT2c.479T>G (p.Ile160Ser)
gnomAD v4
14g.49621748C>ACA486350021MGAT2c.480C>A (p.Ile160=)
14g.49621748C>GCA389619182MGAT2c.480C>G (p.Ile160Met)
14g.49621748C>TCA486350023MGAT2c.480C>T (p.Ile160=)
14g.49621749A>CCA389619188MGAT2c.481A>C (p.Asn161His)
dbSNP
14g.49621749A>GCA389619186MGAT2c.481A>G (p.Asn161Asp)
14g.49621749A>TCA389619184MGAT2c.481A>T (p.Asn161Tyr)
14g.49621750A=CA2135804595MGAT2c.482A= (p.Asn161=)
14g.49621750A>CCA389619190MGAT2c.482A>C (p.Asn161Thr)
14g.49621750A>GCA389619192MGAT2c.482A>G (p.Asn161Ser)
dbSNP gnomAD v4
14g.49621750A>TCA389619194MGAT2c.482A>T (p.Asn161Ile)
14g.49621751T>ACA389619196MGAT2c.483T>A (p.Asn161Lys)
14g.49621751T>CCA486350029MGAT2c.483T>C (p.Asn161=)
dbSNP
14g.49621751T>GCA7172557MGAT2c.483T>G (p.Asn161Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621751T=CA2135804597MGAT2c.483T= (p.Asn161=)
14g.49621752C>ACA389619199MGAT2c.484C>A (p.Gln162Lys)
dbSNP gnomAD v3 gnomAD v4
14g.49621752C=CA2135804599MGAT2c.484C= (p.Gln162=)
14g.49621752C>GCA389619201MGAT2c.484C>G (p.Gln162Glu)
14g.49621752C>TCA389619202MGAT2c.484C>T (p.Gln162Ter)
14g.49621753A>CCA389619204MGAT2c.485A>C (p.Gln162Pro)
14g.49621753A>GCA389619206MGAT2c.485A>G (p.Gln162Arg)
COSMIC
14g.49621753A>TCA389619208MGAT2c.485A>T (p.Gln162Leu)
14g.49621754G>ACA486350037MGAT2c.486G>A (p.Gln162=)
14g.49621754G>CCA389619210MGAT2c.486G>C (p.Gln162His)
gnomAD v4
14g.49621754G>TCA389619212MGAT2c.486G>T (p.Gln162His)
14g.49621755C>ACA389619215MGAT2c.487C>A (p.Leu163Met)
14g.49621755C>GCA389619213MGAT2c.487C>G (p.Leu163Val)
14g.49621755C>TCA486350040MGAT2c.487C>T (p.Leu163=)
14g.49621756T>ACA7172558MGAT2c.488T>A (p.Leu163Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621756T>CCA389619218MGAT2c.488T>C (p.Leu163Pro)
14g.49621756T>GCA389619219MGAT2c.488T>G (p.Leu163Arg)
14g.49621756T=CA2135804602MGAT2c.488T= (p.Leu163=)
14g.49621757G>ACA486350043MGAT2c.489G>A (p.Leu163=)
14g.49621757G>CCA486350046MGAT2c.489G>C (p.Leu163=)
14g.49621757G>TCA486350045MGAT2c.489G>T (p.Leu163=)
14g.49621758_49621764dupCA2530660219MGAT2c.490_496dup (p.Gly166AspfsTer23)
14g.49621758A=CA2135804605MGAT2c.490A= (p.Ile164=)
14g.49621758A>CCA389619222MGAT2c.490A>C (p.Ile164Leu)
14g.49621758A>GCA389619224MGAT2c.490A>G (p.Ile164Val)
dbSNP gnomAD v2 gnomAD v4
14g.49621758A>TCA389619225MGAT2c.490A>T (p.Ile164Phe)
14g.49621759T>ACA389619227MGAT2c.491T>A (p.Ile164Asn)
14g.49621759T>CCA389619228MGAT2c.491T>C (p.Ile164Thr)
14g.49621759T>GCA389619230MGAT2c.491T>G (p.Ile164Ser)
14g.49621760C>ACA486350051MGAT2c.492C>A (p.Ile164=)
14g.49621760C>GCA389619232MGAT2c.492C>G (p.Ile164Met)
14g.49621760C>TCA486350055MGAT2c.492C>T (p.Ile164=)
COSMIC
14g.49621761G>ACA389619234MGAT2c.493G>A (p.Ala165Thr)
14g.49621761G>CCA389619235MGAT2c.493G>C (p.Ala165Pro)
gnomAD v4
14g.49621761G=CA2135804607MGAT2c.493G= (p.Ala165=)
14g.49621761G>TCA389619236MGAT2c.493G>T (p.Ala165Ser)
dbSNP
14g.49621762C>ACA389619238MGAT2c.494C>A (p.Ala165Asp)
14g.49621762C>GCA389619242MGAT2c.494C>G (p.Ala165Gly)
gnomAD v4
14g.49621762C>TCA389619240MGAT2c.494C>T (p.Ala165Val)
14g.49621763C>ACA486350064MGAT2c.495C>A (p.Ala165=)
dbSNP gnomAD v2 gnomAD v4
14g.49621763C=CA2135804609MGAT2c.495C= (p.Ala165=)
14g.49621763C>GCA486350067MGAT2c.495C>G (p.Ala165=)
gnomAD v3 gnomAD v4
14g.49621763C>TCA7172559MGAT2c.495C>T (p.Ala165=)
dbSNP ExAC gnomAD v2 gnomAD v4
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

Number of alleles fetched