Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.49621944A>CCA389619845MGAT2c.676A>C (p.Lys226Gln)
14g.49621944A>GCA389619846MGAT2c.676A>G (p.Lys226Glu)
gnomAD v4
14g.49621944A>TCA389619848MGAT2c.676A>T (p.Lys226Ter)
14g.49621945A=CA2135804750MGAT2c.677A= (p.Lys226=)
14g.49621945A>CCA389619852MGAT2c.677A>C (p.Lys226Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621945A>GCA389619855MGAT2c.677A>G (p.Lys226Arg)
dbSNP gnomAD v3 gnomAD v4
14g.49621945A>TCA389619853MGAT2c.677A>T (p.Lys226Ile)
gnomAD v4
14g.49621946A>CCA389619858MGAT2c.678A>C (p.Lys226Asn)
14g.49621946A>GCA486349750MGAT2c.678A>G (p.Lys226=)
14g.49621946A>TCA389619860MGAT2c.678A>T (p.Lys226Asn)
COSMIC
14g.49621947T>ACA389619862MGAT2c.679T>A (p.Phe227Ile)
14g.49621947T>CCA389619867MGAT2c.679T>C (p.Phe227Leu)
14g.49621947T>GCA389619864MGAT2c.679T>G (p.Phe227Val)
14g.49621948T>ACA389619870MGAT2c.680T>A (p.Phe227Tyr)
14g.49621948T>CCA389619875MGAT2c.680T>C (p.Phe227Ser)
14g.49621948T>GCA389619873MGAT2c.680T>G (p.Phe227Cys)
14g.49621949C>ACA389619877MGAT2c.681C>A (p.Phe227Leu)
14g.49621949C>GCA389619879MGAT2c.681C>G (p.Phe227Leu)
14g.49621949C>TCA486349754MGAT2c.681C>T (p.Phe227=)
14g.49621950T>ACA389619882MGAT2c.682T>A (p.Ser228Thr)
14g.49621950T>CCA389619885MGAT2c.682T>C (p.Ser228Pro)
14g.49621950T>GCA389619887MGAT2c.682T>G (p.Ser228Ala)
14g.49621951C>ACA389619890MGAT2c.683C>A (p.Ser228Tyr)
14g.49621951C=CA2135804751MGAT2c.683C= (p.Ser228=)
14g.49621951C>GCA389619892MGAT2c.683C>G (p.Ser228Cys)
14g.49621951C>TCA260660759MGAT2c.683C>T (p.Ser228Phe)
dbSNP
14g.49621952C>ACA486349757MGAT2c.684C>A (p.Ser228=)
14g.49621952C=CA2135804752MGAT2c.684C= (p.Ser228=)
14g.49621952C>GCA486349758MGAT2c.684C>G (p.Ser228=)
14g.49621952C>TCA486349761MGAT2c.684C>T (p.Ser228=)
dbSNP gnomAD v2
14g.49621952_49621956delinsCCAGACA2135804753MGAT2c.684_688delinsCCAGA (p.Ser228=)
14g.49621953C>ACA389619894MGAT2c.685C>A (p.Gln229Lys)
14g.49621953C>GCA389619897MGAT2c.685C>G (p.Gln229Glu)
14g.49621953C>TCA389619898MGAT2c.685C>T (p.Gln229Ter)
14g.49621954_49621957delCA2135804754MGAT2c.686_689del (p.Gln229ProfsTer16)
dbSNP
14g.49621954A=CA2135804755MGAT2c.686A= (p.Gln229=)
14g.49621954A>CCA389619901MGAT2c.686A>C (p.Gln229Pro)
14g.49621954A>GCA389619905MGAT2c.686A>G (p.Gln229Arg)
dbSNP gnomAD v2 gnomAD v4
14g.49621954A>TCA389619903MGAT2c.686A>T (p.Gln229Leu)
14g.49621955G>ACA486349762MGAT2c.687G>A (p.Gln229=)
14g.49621955G>CCA389619907MGAT2c.687G>C (p.Gln229His)
gnomAD v4
14g.49621955G=CA2135804756MGAT2c.687G= (p.Gln229=)
14g.49621955G>TCA389619910MGAT2c.687G>T (p.Gln229His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621956A=CA2135804757MGAT2c.688A= (p.Thr230=)
14g.49621956A>CCA389619912MGAT2c.688A>C (p.Thr230Pro)
ClinVar dbSNP gnomAD v4
14g.49621956A>GCA389619914MGAT2c.688A>G (p.Thr230Ala)
14g.49621956A>TCA389619917MGAT2c.688A>T (p.Thr230Ser)
14g.49621957C>ACA389619920MGAT2c.689C>A (p.Thr230Asn)
14g.49621957C>GCA389619922MGAT2c.689C>G (p.Thr230Ser)
14g.49621957C>TCA389619924MGAT2c.689C>T (p.Thr230Ile)
14g.49621958C>ACA486349770MGAT2c.690C>A (p.Thr230=)
14g.49621958C>GCA486349771MGAT2c.690C>G (p.Thr230=)
14g.49621958C>TCA486349769MGAT2c.690C>T (p.Thr230=)
14g.49621959A>CCA389619929MGAT2c.691A>C (p.Lys231Gln)
14g.49621959A>GCA389619931MGAT2c.691A>G (p.Lys231Glu)
14g.49621959A>TCA389619927MGAT2c.691A>T (p.Lys231Ter)
14g.49621961dupCA486349772MGAT2c.693dup (p.His232ThrfsTer?)
COSMIC
14g.49621960A>CCA389619934MGAT2c.692A>C (p.Lys231Thr)
14g.49621960A>GCA389619936MGAT2c.692A>G (p.Lys231Arg)
14g.49621960A>TCA389619939MGAT2c.692A>T (p.Lys231Ile)
14g.49621961A>CCA389619941MGAT2c.693A>C (p.Lys231Asn)
14g.49621961A>GCA486349775MGAT2c.693A>G (p.Lys231=)
14g.49621961A>TCA389619942MGAT2c.693A>T (p.Lys231Asn)
14g.49621962C>ACA389619948MGAT2c.694C>A (p.His232Asn)
14g.49621962C>GCA389619944MGAT2c.694C>G (p.His232Asp)
14g.49621962C>TCA389619945MGAT2c.694C>T (p.His232Tyr)
gnomAD v3 gnomAD v4
14g.49621963A=CA2135804758MGAT2c.695A= (p.His232=)
14g.49621963A>CCA389619950MGAT2c.695A>C (p.His232Pro)
COSMIC
14g.49621963A>GCA389619952MGAT2c.695A>G (p.His232Arg)
dbSNP gnomAD v2
14g.49621963A>TCA389619953MGAT2c.695A>T (p.His232Leu)
14g.49621964T>ACA389619954MGAT2c.696T>A (p.His232Gln)
14g.49621964T>CCA486349779MGAT2c.696T>C (p.His232=)
14g.49621964T>GCA389619956MGAT2c.696T>G (p.His232Gln)
14g.49621965C>ACA389619958MGAT2c.697C>A (p.His233Asn)
14g.49621965C>GCA389619963MGAT2c.697C>G (p.His233Asp)
14g.49621965C>TCA389619960MGAT2c.697C>T (p.His233Tyr)
14g.49621966A=CA2135804759MGAT2c.698A= (p.His233=)
14g.49621966A>CCA389619965MGAT2c.698A>C (p.His233Pro)
14g.49621966A>GCA260660763MGAT2c.698A>G (p.His233Arg)
dbSNP gnomAD v3 gnomAD v4
14g.49621966A>TCA389619969MGAT2c.698A>T (p.His233Leu)
14g.49621967C>ACA389619972MGAT2c.699C>A (p.His233Gln)
14g.49621967C>GCA389619973MGAT2c.699C>G (p.His233Gln)
14g.49621967C>TCA486349783MGAT2c.699C>T (p.His233=)
gnomAD v4
14g.49621968T>ACA389619976MGAT2c.700T>A (p.Trp234Arg)
14g.49621968T>CCA389619979MGAT2c.700T>C (p.Trp234Arg)
14g.49621968T>GCA389619980MGAT2c.700T>G (p.Trp234Gly)
14g.49621969G>ACA389619982MGAT2c.701G>A (p.Trp234Ter)
gnomAD v4
14g.49621969G>CCA389619984MGAT2c.701G>C (p.Trp234Ser)
14g.49621969G>TCA389619986MGAT2c.701G>T (p.Trp234Leu)
14g.49621970G>ACA389619990MGAT2c.702G>A (p.Trp234Ter)
14g.49621970G>CCA389619991MGAT2c.702G>C (p.Trp234Cys)
14g.49621970G>TCA389619988MGAT2c.702G>T (p.Trp234Cys)
14g.49621971T>ACA389619996MGAT2c.703T>A (p.Trp235Arg)
14g.49621971T>CCA389619993MGAT2c.703T>C (p.Trp235Arg)
14g.49621971T>GCA389619995MGAT2c.703T>G (p.Trp235Gly)
14g.49621972G>ACA389619998MGAT2c.704G>A (p.Trp235Ter)
COSMIC
14g.49621972G>CCA389620000MGAT2c.704G>C (p.Trp235Ser)
14g.49621972G>TCA389620003MGAT2c.704G>T (p.Trp235Leu)
14g.49621973G>ACA389620013MGAT2c.705G>A (p.Trp235Ter)
14g.49621973G>CCA389620010MGAT2c.705G>C (p.Trp235Cys)
14g.49621973G>TCA389620008MGAT2c.705G>T (p.Trp235Cys)
14g.49621974T>ACA389620015MGAT2c.706T>A (p.Trp236Arg)
14g.49621974T>CCA389620017MGAT2c.706T>C (p.Trp236Arg)
14g.49621974T>GCA389620018MGAT2c.706T>G (p.Trp236Gly)
14g.49621975G>ACA389620020MGAT2c.707G>A (p.Trp236Ter)
14g.49621975G>CCA389620022MGAT2c.707G>C (p.Trp236Ser)
14g.49621975G>TCA389620024MGAT2c.707G>T (p.Trp236Leu)
14g.49621976G>ACA389620026MGAT2c.708G>A (p.Trp236Ter)
14g.49621976G>CCA389620035MGAT2c.708G>C (p.Trp236Cys)
14g.49621976G>TCA389620027MGAT2c.708G>T (p.Trp236Cys)
14g.49621977A=CA2135804760MGAT2c.709A= (p.Lys237=)
14g.49621977A>CCA389620038MGAT2c.709A>C (p.Lys237Gln)
14g.49621977A>GCA389620040MGAT2c.709A>G (p.Lys237Glu)
gnomAD v4
14g.49621977A>TCA389620043MGAT2c.709A>T (p.Lys237Ter)
dbSNP gnomAD v2 gnomAD v4
14g.49621978A>CCA389620047MGAT2c.710A>C (p.Lys237Thr)
14g.49621978A>GCA389620049MGAT2c.710A>G (p.Lys237Arg)
14g.49621978A>TCA389620050MGAT2c.710A>T (p.Lys237Met)
14g.49621979G>ACA486349797MGAT2c.711G>A (p.Lys237=)
dbSNP gnomAD v4
14g.49621979G>CCA249931MGAT2c.711G>C (p.Lys237Asn)
ClinVar dbSNP
14g.49621979G=CA2135804761MGAT2c.711G= (p.Lys237=)
14g.49621979G>TCA389620059MGAT2c.711G>T (p.Lys237Asn)
14g.49621980C>ACA7172592MGAT2c.712C>A (p.Leu238Met)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621980C=CA2135804762MGAT2c.712C= (p.Leu238=)
14g.49621980C>GCA389620062MGAT2c.712C>G (p.Leu238Val)
14g.49621980C>TCA486349800MGAT2c.712C>T (p.Leu238=)
14g.49621981T>ACA389620073MGAT2c.713T>A (p.Leu238Gln)
14g.49621981T>CCA389620071MGAT2c.713T>C (p.Leu238Pro)
gnomAD v4
14g.49621981T>GCA389620068MGAT2c.713T>G (p.Leu238Arg)
14g.49621982G>ACA7172593MGAT2c.714G>A (p.Leu238=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621982G>CCA486349804MGAT2c.714G>C (p.Leu238=)
14g.49621982G=CA2135804763MGAT2c.714G= (p.Leu238=)
14g.49621982G>TCA486349803MGAT2c.714G>T (p.Leu238=)
14g.49621983C>ACA389620079MGAT2c.715C>A (p.His239Asn)
14g.49621983C=CA2135804764MGAT2c.715C= (p.His239=)
14g.49621983C>GCA389620088MGAT2c.715C>G (p.His239Asp)
14g.49621983C>TCA389620090MGAT2c.715C>T (p.His239Tyr)
dbSNP
14g.49621984A>CCA389620093MGAT2c.716A>C (p.His239Pro)
14g.49621984A>GCA389620094MGAT2c.716A>G (p.His239Arg)
14g.49621984A>TCA389620096MGAT2c.716A>T (p.His239Leu)
14g.49621985T>ACA389620097MGAT2c.717T>A (p.His239Gln)
14g.49621985T>CCA486349807MGAT2c.717T>C (p.His239=)
14g.49621985T>GCA389620099MGAT2c.717T>G (p.His239Gln)
14g.49621986T>ACA389620102MGAT2c.718T>A (p.Phe240Ile)
14g.49621986T>CCA389620105MGAT2c.718T>C (p.Phe240Leu)
14g.49621986T>GCA389620108MGAT2c.718T>G (p.Phe240Val)
gnomAD v4
14g.49621987T>ACA389620110MGAT2c.719T>A (p.Phe240Tyr)
14g.49621987T>CCA389620116MGAT2c.719T>C (p.Phe240Ser)
14g.49621987T>GCA389620109MGAT2c.719T>G (p.Phe240Cys)
14g.49621988T>ACA389620119MGAT2c.720T>A (p.Phe240Leu)
14g.49621988T>CCA486349811MGAT2c.720T>C (p.Phe240=)
14g.49621988T>GCA389620124MGAT2c.720T>G (p.Phe240Leu)
14g.49621989G>ACA389620126MGAT2c.721G>A (p.Val241Met)
14g.49621989G>CCA389620127MGAT2c.721G>C (p.Val241Leu)
14g.49621989G=CA2135804765MGAT2c.721G= (p.Val241=)
14g.49621989G>TCA389620129MGAT2c.721G>T (p.Val241Leu)
dbSNP gnomAD v3 gnomAD v4
14g.49621990T>ACA389620135MGAT2c.722T>A (p.Val241Glu)
14g.49621990T>CCA260660767MGAT2c.722T>C (p.Val241Ala)
dbSNP
14g.49621990T>GCA389620133MGAT2c.722T>G (p.Val241Gly)
14g.49621990T=CA2135804766MGAT2c.722T= (p.Val241=)
14g.49621991G>ACA486349814MGAT2c.723G>A (p.Val241=)
dbSNP
14g.49621991G>CCA486349815MGAT2c.723G>C (p.Val241=)
14g.49621991G=CA2135804767MGAT2c.723G= (p.Val241=)
14g.49621991G>TCA486349816MGAT2c.723G>T (p.Val241=)
gnomAD v4
14g.49621992T>ACA389620137MGAT2c.724T>A (p.Trp242Arg)
14g.49621992T>CCA389620140MGAT2c.724T>C (p.Trp242Arg)
14g.49621992T>GCA389620144MGAT2c.724T>G (p.Trp242Gly)
dbSNP
14g.49621992T=CA2135804768MGAT2c.724T= (p.Trp242=)
14g.49621993G>ACA389620148MGAT2c.725G>A (p.Trp242Ter)
14g.49621993G>CCA389620149MGAT2c.725G>C (p.Trp242Ser)
14g.49621993G>TCA389620151MGAT2c.725G>T (p.Trp242Leu)
14g.49621994G>ACA389620156MGAT2c.726G>A (p.Trp242Ter)
14g.49621994G>CCA389620158MGAT2c.726G>C (p.Trp242Cys)
14g.49621994G>TCA389620153MGAT2c.726G>T (p.Trp242Cys)
14g.49621995G>ACA389620160MGAT2c.727G>A (p.Glu243Lys)
gnomAD v4
14g.49621995G>CCA389620159MGAT2c.727G>C (p.Glu243Gln)
gnomAD v4
14g.49621995G>TCA389620163MGAT2c.727G>T (p.Glu243Ter)
14g.49621996A>CCA389620165MGAT2c.728A>C (p.Glu243Ala)
14g.49621996A>GCA389620167MGAT2c.728A>G (p.Glu243Gly)
14g.49621996A>TCA389620168MGAT2c.728A>T (p.Glu243Val)
14g.49621997A>CCA389620170MGAT2c.729A>C (p.Glu243Asp)
14g.49621997A>GCA486349824MGAT2c.729A>G (p.Glu243=)
14g.49621997A>TCA389620171MGAT2c.729A>T (p.Glu243Asp)
14g.49621998A=CA2135804769MGAT2c.730A= (p.Arg244=)
14g.49621998A>CCA486349826MGAT2c.730A>C (p.Arg244=)
14g.49621998A>GCA260660768MGAT2c.730A>G (p.Arg244Gly)
dbSNP gnomAD v4
14g.49621998A>TCA389620175MGAT2c.730A>T (p.Arg244Ter)
14g.49621999G>ACA389620179MGAT2c.731G>A (p.Arg244Lys)
gnomAD v4
14g.49621999G>CCA389620180MGAT2c.731G>C (p.Arg244Thr)
14g.49621999G>TCA389620182MGAT2c.731G>T (p.Arg244Ile)
14g.49622000A>CCA389620184MGAT2c.732A>C (p.Arg244Ser)
gnomAD v4
14g.49622000A>GCA486349830MGAT2c.732A>G (p.Arg244=)
14g.49622000A>TCA389620186MGAT2c.732A>T (p.Arg244Ser)
14g.49622001G>ACA7172594MGAT2c.733G>A (p.Val245Met)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.49622001G>CCA221941MGAT2c.733G>C (p.Val245Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49622001G=CA2135804770MGAT2c.733G= (p.Val245=)
14g.49622001G>TCA389620190MGAT2c.733G>T (p.Val245Leu)
COSMIC
14g.49622002T>ACA389620194MGAT2c.734T>A (p.Val245Glu)
14g.49622002T>CCA389620196MGAT2c.734T>C (p.Val245Ala)
14g.49622002T>GCA389620198MGAT2c.734T>G (p.Val245Gly)
14g.49622003G>ACA486349833MGAT2c.735G>A (p.Val245=)
dbSNP
14g.49622003G>CCA486349834MGAT2c.735G>C (p.Val245=)
14g.49622003G=CA2135804771MGAT2c.735G= (p.Val245=)
14g.49622003G>TCA486349835MGAT2c.735G>T (p.Val245=)
14g.49622004A>CCA389620201MGAT2c.736A>C (p.Lys246Gln)
14g.49622004A>GCA389620204MGAT2c.736A>G (p.Lys246Glu)
14g.49622004A>TCA389620207MGAT2c.736A>T (p.Lys246Ter)
14g.49622007dupCA2624726678MGAT2c.739dup (p.Ile247AsnfsTer?)
gnomAD v4
14g.49622005A>CCA389620210MGAT2c.737A>C (p.Lys246Thr)
14g.49622005A>GCA389620211MGAT2c.737A>G (p.Lys246Arg)
14g.49622005A>TCA389620214MGAT2c.737A>T (p.Lys246Ile)
COSMIC
14g.49622006A>CCA389620219MGAT2c.738A>C (p.Lys246Asn)
14g.49622006A>GCA486349840MGAT2c.738A>G (p.Lys246=)
14g.49622006A>TCA389620221MGAT2c.738A>T (p.Lys246Asn)
14g.49622007A>CCA389620234MGAT2c.739A>C (p.Ile247Leu)
14g.49622007A>GCA389620237MGAT2c.739A>G (p.Ile247Val)
gnomAD v4
14g.49622007A>TCA389620226MGAT2c.739A>T (p.Ile247Phe)
14g.49622008T>ACA389620241MGAT2c.740T>A (p.Ile247Asn)
14g.49622008T>CCA389620243MGAT2c.740T>C (p.Ile247Thr)
14g.49622008T>GCA389620245MGAT2c.740T>G (p.Ile247Ser)
14g.49622009T>ACA486349843MGAT2c.741T>A (p.Ile247=)
14g.49622009T>CCA486349844MGAT2c.741T>C (p.Ile247=)
14g.49622009T>GCA389620248MGAT2c.741T>G (p.Ile247Met)
14g.49622010C>ACA389620251MGAT2c.742C>A (p.Leu248Ile)
gnomAD v4
14g.49622010C>GCA389620252MGAT2c.742C>G (p.Leu248Val)
14g.49622010C>TCA389620254MGAT2c.742C>T (p.Leu248Phe)
14g.49622011T>ACA389620256MGAT2c.743T>A (p.Leu248His)
14g.49622011T>CCA389620258MGAT2c.743T>C (p.Leu248Pro)
14g.49622011T>GCA389620259MGAT2c.743T>G (p.Leu248Arg)
14g.49622012T>ACA486349851MGAT2c.744T>A (p.Leu248=)
14g.49622012T>CCA486349854MGAT2c.744T>C (p.Leu248=)
dbSNP gnomAD v2 gnomAD v4
14g.49622012T>GCA486349856MGAT2c.744T>G (p.Leu248=)
14g.49622012T=CA2135804772MGAT2c.744T= (p.Leu248=)
14g.49622013C>ACA486349857MGAT2c.745C>A (p.Arg249=)
gnomAD v4
14g.49622013C=CA2135804773MGAT2c.745C= (p.Arg249=)
14g.49622013C>GCA389620262MGAT2c.745C>G (p.Arg249Gly)
14g.49622013C>TCA389620264MGAT2c.745C>T (p.Arg249Ter)
ClinVar dbSNP
14g.49622014G>ACA389620267MGAT2c.746G>A (p.Arg249Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49622014G>CCA389620268MGAT2c.746G>C (p.Arg249Pro)
14g.49622014G=CA2135804774MGAT2c.746G= (p.Arg249=)
14g.49622014G>TCA389620266MGAT2c.746G>T (p.Arg249Leu)
14g.49622015A>CCA486349859MGAT2c.747A>C (p.Arg249=)
14g.49622015A>GCA486349861MGAT2c.747A>G (p.Arg249=)
14g.49622015A>TCA486349863MGAT2c.747A>T (p.Arg249=)
gnomAD v4
14g.49622016delCA2624726679MGAT2c.748del (p.Asp250IlefsTer9)
gnomAD v4
14g.49622016G>ACA389620274MGAT2c.748G>A (p.Asp250Asn)
gnomAD v4
14g.49622016G>CCA389620275MGAT2c.748G>C (p.Asp250His)
14g.49622016G>TCA389620276MGAT2c.748G>T (p.Asp250Tyr)
gnomAD v4
14g.49622017A>CCA389620277MGAT2c.749A>C (p.Asp250Ala)
14g.49622017A>GCA389620278MGAT2c.749A>G (p.Asp250Gly)
14g.49622017A>TCA389620279MGAT2c.749A>T (p.Asp250Val)
14g.49622018T>ACA389620281MGAT2c.750T>A (p.Asp250Glu)
14g.49622018T>CCA486349864MGAT2c.750T>C (p.Asp250=)
14g.49622018T>GCA389620283MGAT2c.750T>G (p.Asp250Glu)
14g.49622019T>ACA7172595MGAT2c.751T>A (p.Tyr251Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49622019T>CCA389620286MGAT2c.751T>C (p.Tyr251His)
14g.49622019T>GCA389620287MGAT2c.751T>G (p.Tyr251Asp)
14g.49622019T=CA2135804775MGAT2c.751T= (p.Tyr251=)
14g.49622020A=CA2135804776MGAT2c.752A= (p.Tyr251=)
14g.49622020A>CCA389620290MGAT2c.752A>C (p.Tyr251Ser)
gnomAD v4
14g.49622020A>GCA389620291MGAT2c.752A>G (p.Tyr251Cys)
14g.49622020A>TCA389620293MGAT2c.752A>T (p.Tyr251Phe)
14g.49622021T>ACA389620297MGAT2c.753T>A (p.Tyr251Ter)
14g.49622021T>CCA486349869MGAT2c.753T>C (p.Tyr251=)
gnomAD v4
14g.49622021T>GCA389620295MGAT2c.753T>G (p.Tyr251Ter)
14g.49622021dupCA913190931MGAT2c.753dup (p.Ala252CysfsTer?)
ClinVar dbSNP
14g.49622022G>ACA389620300MGAT2c.754G>A (p.Ala252Thr)
14g.49622022G>CCA389620308MGAT2c.754G>C (p.Ala252Pro)
14g.49622022G>TCA389620302MGAT2c.754G>T (p.Ala252Ser)
14g.49622023C>ACA7172596MGAT2c.755C>A (p.Ala252Asp)
dbSNP ExAC gnomAD v3 gnomAD v4
14g.49622023C=CA2135804777MGAT2c.755C= (p.Ala252=)
14g.49622023C>GCA389620312MGAT2c.755C>G (p.Ala252Gly)
14g.49622023C>TCA389620315MGAT2c.755C>T (p.Ala252Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49622024T>ACA486349875MGAT2c.756T>A (p.Ala252=)
14g.49622024T>CCA486349877MGAT2c.756T>C (p.Ala252=)
14g.49622024T>GCA486349876MGAT2c.756T>G (p.Ala252=)
14g.49622025G>ACA389620319MGAT2c.757G>A (p.Gly253Ser)
14g.49622025G>CCA389620321MGAT2c.757G>C (p.Gly253Arg)
14g.49622025G>TCA389620323MGAT2c.757G>T (p.Gly253Cys)
14g.49622026G>ACA389620327MGAT2c.758G>A (p.Gly253Asp)
14g.49622026G>CCA389620328MGAT2c.758G>C (p.Gly253Ala)
gnomAD v4
14g.49622026G>TCA389620329MGAT2c.758G>T (p.Gly253Val)
14g.49622027C>ACA486349882MGAT2c.759C>A (p.Gly253=)
14g.49622027C>GCA486349881MGAT2c.759C>G (p.Gly253=)
14g.49622027C>TCA486349880MGAT2c.759C>T (p.Gly253=)
14g.49622028C>ACA389620332MGAT2c.760C>A (p.Leu254Ile)
14g.49622028C=CA2135804778MGAT2c.760C= (p.Leu254=)
14g.49622028C>GCA389620335MGAT2c.760C>G (p.Leu254Val)
14g.49622028C>TCA389620338MGAT2c.760C>T (p.Leu254Phe)
dbSNP gnomAD v3 gnomAD v4
14g.49622029T>ACA389620343MGAT2c.761T>A (p.Leu254His)
14g.49622029T>CCA389620342MGAT2c.761T>C (p.Leu254Pro)
14g.49622029T>GCA389620340MGAT2c.761T>G (p.Leu254Arg)
14g.49622030T>ACA486349886MGAT2c.762T>A (p.Leu254=)
14g.49622030T>CCA486349890MGAT2c.762T>C (p.Leu254=)
14g.49622030T>GCA486349888MGAT2c.762T>G (p.Leu254=)
14g.49622031A>CCA389620346MGAT2c.763A>C (p.Ile255Leu)
14g.49622031A>GCA389620348MGAT2c.763A>G (p.Ile255Val)
dbSNP
14g.49622031A>TCA389620349MGAT2c.763A>T (p.Ile255Leu)
gnomAD v4
14g.49622032T>ACA389620352MGAT2c.764T>A (p.Ile255Lys)
14g.49622032T>CCA7172597MGAT2c.764T>C (p.Ile255Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49622032T>GCA389620354MGAT2c.764T>G (p.Ile255Arg)
14g.49622032T=CA2135804779MGAT2c.764T= (p.Ile255=)
14g.49622033A=CA2135804780MGAT2c.765A= (p.Ile255=)
14g.49622033A>CCA486349897MGAT2c.765A>C (p.Ile255=)
14g.49622033A>GCA7172598MGAT2c.765A>G (p.Ile255Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49622033A>TCA486349899MGAT2c.765A>T (p.Ile255=)
14g.49622034_49622044delCA2624726680MGAT2c.766_776del (p.Leu256ArgfsTer26)
gnomAD v4
14g.49622034C>ACA389620358MGAT2c.766C>A (p.Leu256Ile)
14g.49622034C=CA2135804781MGAT2c.766C= (p.Leu256=)
14g.49622034C>GCA7172599MGAT2c.766C>G (p.Leu256Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.49622034C>TCA389620360MGAT2c.766C>T (p.Leu256Phe)
gnomAD v4
14g.49622035T>ACA389620362MGAT2c.767T>A (p.Leu256His)
14g.49622035T>CCA389620363MGAT2c.767T>C (p.Leu256Pro)
14g.49622035T>GCA389620365MGAT2c.767T>G (p.Leu256Arg)
14g.49622038dupCA2135804782MGAT2c.770dup (p.Leu258ProfsTer28)
dbSNP
14g.49622036T>ACA486349904MGAT2c.768T>A (p.Leu256=)
14g.49622036T>CCA486349906MGAT2c.768T>C (p.Leu256=)
14g.49622036T>GCA7172600MGAT2c.768T>G (p.Leu256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49622036T=CA2135804783MGAT2c.768T= (p.Leu256=)
14g.49622037T>ACA389620372MGAT2c.769T>A (p.Phe257Ile)
14g.49622037T>CCA389620368MGAT2c.769T>C (p.Phe257Leu)
dbSNP gnomAD v3 gnomAD v4
14g.49622037T>GCA389620370MGAT2c.769T>G (p.Phe257Val)
14g.49622037T=CA2135804784MGAT2c.769T= (p.Phe257=)
14g.49622038T>ACA389620373MGAT2c.770T>A (p.Phe257Tyr)
14g.49622038T>CCA389620374MGAT2c.770T>C (p.Phe257Ser)
14g.49622038T>GCA389620377MGAT2c.770T>G (p.Phe257Cys)
14g.49622039C>ACA389620379MGAT2c.771C>A (p.Phe257Leu)
14g.49622039C>GCA389620381MGAT2c.771C>G (p.Phe257Leu)
14g.49622039C>TCA486349912MGAT2c.771C>T (p.Phe257=)
COSMIC
14g.49622040C>ACA389620383MGAT2c.772C>A (p.Leu258Ile)
14g.49622040C=CA2135804785MGAT2c.772C= (p.Leu258=)
14g.49622040C>GCA389620385MGAT2c.772C>G (p.Leu258Val)
dbSNP gnomAD v2 gnomAD v4
14g.49622040C>TCA486349913MGAT2c.772C>T (p.Leu258=)
gnomAD v4
14g.49622041T>ACA389620387MGAT2c.773T>A (p.Leu258Gln)
14g.49622041T>CCA389620389MGAT2c.773T>C (p.Leu258Pro)
gnomAD v4
14g.49622041T>GCA389620391MGAT2c.773T>G (p.Leu258Arg)
dbSNP gnomAD v2
14g.49622041T=CA2135804786MGAT2c.773T= (p.Leu258=)
14g.49622042A>CCA486349918MGAT2c.774A>C (p.Leu258=)
14g.49622042A>GCA486349921MGAT2c.774A>G (p.Leu258=)
14g.49622042A>TCA486349923MGAT2c.774A>T (p.Leu258=)
14g.49622043G>ACA389620395MGAT2c.775G>A (p.Glu259Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49622043G>CCA389620396MGAT2c.775G>C (p.Glu259Gln)
14g.49622043G=CA2135804787MGAT2c.775G= (p.Glu259=)
14g.49622043G>TCA389620393MGAT2c.775G>T (p.Glu259Ter)
14g.49622044A>CCA389620399MGAT2c.776A>C (p.Glu259Ala)
14g.49622044A>GCA389620401MGAT2c.776A>G (p.Glu259Gly)
14g.49622044A>TCA389620403MGAT2c.776A>T (p.Glu259Val)

Number of alleles fetched