Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.49621870C>ACA389619519MGAT2c.602C>A (p.Pro201Gln)
14g.49621870C=CA2135804721MGAT2c.602C= (p.Pro201=)
14g.49621870C>GCA389619520MGAT2c.602C>G (p.Pro201Arg)
gnomAD v4
14g.49621870C>TCA7172580MGAT2c.602C>T (p.Pro201Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621871G>ACA486350317MGAT2c.603G>A (p.Pro201=)
gnomAD v4
14g.49621871G>CCA486350319MGAT2c.603G>C (p.Pro201=)
14g.49621871G>TCA486350320MGAT2c.603G>T (p.Pro201=)
14g.49621872A=CA2135804722MGAT2c.604A= (p.Lys202=)
14g.49621872A>CCA389619521MGAT2c.604A>C (p.Lys202Gln)
14g.49621872A>GCA7172581MGAT2c.604A>G (p.Lys202Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621872A>TCA389619522MGAT2c.604A>T (p.Lys202Ter)
14g.49621873A>CCA389619523MGAT2c.605A>C (p.Lys202Thr)
14g.49621873A>GCA389619524MGAT2c.605A>G (p.Lys202Arg)
14g.49621873A>TCA389619525MGAT2c.605A>T (p.Lys202Met)
14g.49621874G>ACA486350325MGAT2c.606G>A (p.Lys202=)
gnomAD v4
14g.49621874G>CCA389619526MGAT2c.606G>C (p.Lys202Asn)
14g.49621874G>TCA389619527MGAT2c.606G>T (p.Lys202Asn)
gnomAD v4
14g.49621875A>CCA389619530MGAT2c.607A>C (p.Asn203His)
14g.49621875A>GCA389619529MGAT2c.607A>G (p.Asn203Asp)
14g.49621875A>TCA389619528MGAT2c.607A>T (p.Asn203Tyr)
14g.49621876A>CCA389619531MGAT2c.608A>C (p.Asn203Thr)
14g.49621876A>GCA389619532MGAT2c.608A>G (p.Asn203Ser)
14g.49621876A>TCA389619533MGAT2c.608A>T (p.Asn203Ile)
14g.49621877T>ACA389619535MGAT2c.609T>A (p.Asn203Lys)
14g.49621877T>CCA7172582MGAT2c.609T>C (p.Asn203=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621877T>GCA389619537MGAT2c.609T>G (p.Asn203Lys)
14g.49621877T=CA2135804723MGAT2c.609T= (p.Asn203=)
14g.49621878G>ACA389619539MGAT2c.610G>A (p.Ala204Thr)
14g.49621878G>CCA389619540MGAT2c.610G>C (p.Ala204Pro)
14g.49621878G>TCA389619542MGAT2c.610G>T (p.Ala204Ser)
14g.49621879C>ACA389619543MGAT2c.611C>A (p.Ala204Asp)
14g.49621879C=CA2135804724MGAT2c.611C= (p.Ala204=)
14g.49621879C>GCA389619545MGAT2c.611C>G (p.Ala204Gly)
gnomAD v4
14g.49621879C>TCA389619547MGAT2c.611C>T (p.Ala204Val)
dbSNP gnomAD v2 gnomAD v4
14g.49621880C>ACA486350331MGAT2c.612C>A (p.Ala204=)
COSMIC
14g.49621880C=CA2135804725MGAT2c.612C= (p.Ala204=)
14g.49621880C>GCA486350332MGAT2c.612C>G (p.Ala204=)
14g.49621880C>TCA260660733MGAT2c.612C>T (p.Ala204=)
dbSNP gnomAD v4
14g.49621881G>ACA389619552MGAT2c.613G>A (p.Ala205Thr)
gnomAD v4
14g.49621881G>CCA389619550MGAT2c.613G>C (p.Ala205Pro)
gnomAD v4
14g.49621881G>TCA389619548MGAT2c.613G>T (p.Ala205Ser)
14g.49621882C>ACA389619554MGAT2c.614C>A (p.Ala205Asp)
14g.49621882C>GCA389619556MGAT2c.614C>G (p.Ala205Gly)
14g.49621882C>TCA389619557MGAT2c.614C>T (p.Ala205Val)
14g.49621883T>ACA486350336MGAT2c.615T>A (p.Ala205=)
14g.49621883T>CCA486350338MGAT2c.615T>C (p.Ala205=)
gnomAD v4
14g.49621883T>GCA486350339MGAT2c.615T>G (p.Ala205=)
14g.49621884T>ACA389619559MGAT2c.616T>A (p.Leu206Met)
14g.49621884T>CCA486350340MGAT2c.616T>C (p.Leu206=)
dbSNP
14g.49621884T>GCA260660736MGAT2c.616T>G (p.Leu206Val)
dbSNP gnomAD v4
14g.49621884T=CA2135804726MGAT2c.616T= (p.Leu206=)
14g.49621885T>ACA389619561MGAT2c.617T>A (p.Leu206Ter)
14g.49621885T>CCA389619562MGAT2c.617T>C (p.Leu206Ser)
14g.49621885T>GCA389619564MGAT2c.617T>G (p.Leu206Trp)
14g.49621886G>ACA486350344MGAT2c.618G>A (p.Leu206=)
COSMIC
14g.49621886G>CCA389619565MGAT2c.618G>C (p.Leu206Phe)
14g.49621886G>TCA389619567MGAT2c.618G>T (p.Leu206Phe)
14g.49621887A>CCA389619568MGAT2c.619A>C (p.Lys207Gln)
14g.49621887A>GCA389619569MGAT2c.619A>G (p.Lys207Glu)
14g.49621887A>TCA389619570MGAT2c.619A>T (p.Lys207Ter)
14g.49621888A>CCA389619574MGAT2c.620A>C (p.Lys207Thr)
14g.49621888A>GCA389619571MGAT2c.620A>G (p.Lys207Arg)
14g.49621888A>TCA389619572MGAT2c.620A>T (p.Lys207Ile)
14g.49621889A=CA2135804727MGAT2c.621A= (p.Lys207=)
14g.49621889A>CCA389619575MGAT2c.621A>C (p.Lys207Asn)
14g.49621889A>GCA486350345MGAT2c.621A>G (p.Lys207=)
dbSNP
14g.49621889A>TCA389619577MGAT2c.621A>T (p.Lys207Asn)
14g.49621890T>ACA389619578MGAT2c.622T>A (p.Leu208Met)
14g.49621890T>CCA7172583MGAT2c.622T>C (p.Leu208=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621890T>GCA389619581MGAT2c.622T>G (p.Leu208Val)
14g.49621890T=CA2135804728MGAT2c.622T= (p.Leu208=)
14g.49621891T>ACA389619582MGAT2c.623T>A (p.Leu208Ter)
14g.49621891T>CCA389619584MGAT2c.623T>C (p.Leu208Ser)
14g.49621891T>GCA389619585MGAT2c.623T>G (p.Leu208Trp)
14g.49621891_49621893delinsTGGCA2135804729MGAT2c.623_625delinsTGG (p.Leu208=)
14g.49621892G>ACA486350348MGAT2c.624G>A (p.Leu208=)
14g.49621892G>CCA389619586MGAT2c.624G>C (p.Leu208Phe)
14g.49621892G>TCA389619588MGAT2c.624G>T (p.Leu208Phe)
14g.49621894_49621895delCA706480752MGAT2c.626_627del (p.Gly209ValfsTer5)
dbSNP gnomAD v3 gnomAD v4
14g.49621893G>ACA389619589MGAT2c.625G>A (p.Gly209Arg)
gnomAD v4
14g.49621893G>CCA389619591MGAT2c.625G>C (p.Gly209Arg)
14g.49621893G=CA2135804730MGAT2c.625G= (p.Gly209=)
14g.49621893G>TCA389619593MGAT2c.625G>T (p.Gly209Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621894G>ACA389619597MGAT2c.626G>A (p.Gly209Glu)
14g.49621894G>CCA389619596MGAT2c.626G>C (p.Gly209Ala)
14g.49621894G>TCA389619594MGAT2c.626G>T (p.Gly209Val)
gnomAD v4
14g.49621895G>ACA486350354MGAT2c.627G>A (p.Gly209=)
gnomAD v4
14g.49621895G>CCA486350355MGAT2c.627G>C (p.Gly209=)
14g.49621895G>TCA486350353MGAT2c.627G>T (p.Gly209=)
14g.49621896T>ACA389619599MGAT2c.628T>A (p.Cys210Ser)
14g.49621896T>CCA389619600MGAT2c.628T>C (p.Cys210Arg)
14g.49621896T>GCA389619601MGAT2c.628T>G (p.Cys210Gly)
14g.49621897G>ACA389619603MGAT2c.629G>A (p.Cys210Tyr)
14g.49621897G>CCA389619605MGAT2c.629G>C (p.Cys210Ser)
gnomAD v4
14g.49621897G>TCA389619606MGAT2c.629G>T (p.Cys210Phe)
14g.49621898C>ACA389619609MGAT2c.630C>A (p.Cys210Ter)
14g.49621898C=CA2135804731MGAT2c.630C= (p.Cys210=)
14g.49621898C>GCA389619612MGAT2c.630C>G (p.Cys210Trp)
14g.49621898C>TCA486350358MGAT2c.630C>T (p.Cys210=)
dbSNP gnomAD v2 gnomAD v4
14g.49621899A=CA2135804732MGAT2c.631A= (p.Ile211=)
14g.49621899A>CCA389619613MGAT2c.631A>C (p.Ile211Leu)
14g.49621899A>GCA389619617MGAT2c.631A>G (p.Ile211Val)
dbSNP gnomAD v3 gnomAD v4
14g.49621899A>TCA389619616MGAT2c.631A>T (p.Ile211Phe)
14g.49621900T>ACA389619619MGAT2c.632T>A (p.Ile211Asn)
14g.49621900T>CCA389619620MGAT2c.632T>C (p.Ile211Thr)
14g.49621900T>GCA389619622MGAT2c.632T>G (p.Ile211Ser)
14g.49621901C>ACA486350361MGAT2c.633C>A (p.Ile211=)
14g.49621901C>GCA389619625MGAT2c.633C>G (p.Ile211Met)
gnomAD v4
14g.49621901C>TCA486350360MGAT2c.633C>T (p.Ile211=)
gnomAD v4 COSMIC
14g.49621902A>CCA389619626MGAT2c.634A>C (p.Asn212His)
14g.49621902A>GCA389619632MGAT2c.634A>G (p.Asn212Asp)
14g.49621902A>TCA389619629MGAT2c.634A>T (p.Asn212Tyr)
14g.49621902_49621903insCCA2570222421MGAT2c.634_635insC (p.Asn212ThrfsTer3)
14g.49621903A=CA2135804733MGAT2c.635A= (p.Asn212=)
14g.49621903A>CCA389619634MGAT2c.635A>C (p.Asn212Thr)
14g.49621903A>GCA7172584MGAT2c.635A>G (p.Asn212Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.49621903A>TCA389619636MGAT2c.635A>T (p.Asn212Ile)
gnomAD v4
14g.49621903_49621904insATGAAATGCCTGAACTGGCAGTAGTTTCTGATGATACCTTGATTGAAAAAGTAGTCAAAGCCCAAGATGACCGTCTCTTCTACGTATCAGAAGCTATTCGCCGTGGCTACACACCAGAAGAAATCA2563482155MGAT2c.635_636insATGAAATGCCTGAACTGGCAGTAGTTTCTGATGATACCTTGATTGAAAAAGTAGTCAAAGCCCAAGATGACCGTCTCTTCTACGTATCAGAAGCTATTCGCCGTGGCTACACACCAGAAGAAAT (p.Asn212LysfsTer2)
14g.49621904T>ACA389619639MGAT2c.636T>A (p.Asn212Lys)
gnomAD v4
14g.49621904T>CCA7172585MGAT2c.636T>C (p.Asn212=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621904T>GCA389619643MGAT2c.636T>G (p.Asn212Lys)
14g.49621904T=CA2135804734MGAT2c.636T= (p.Asn212=)
14g.49621905G>ACA389619645MGAT2c.637G>A (p.Ala213Thr)
14g.49621905G>CCA389619648MGAT2c.637G>C (p.Ala213Pro)
14g.49621905G>TCA389619651MGAT2c.637G>T (p.Ala213Ser)
14g.49621906C>ACA389619652MGAT2c.638C>A (p.Ala213Asp)
14g.49621906C=CA2135804735MGAT2c.638C= (p.Ala213=)
14g.49621906C>GCA389619653MGAT2c.638C>G (p.Ala213Gly)
dbSNP
14g.49621906C>TCA389619656MGAT2c.638C>T (p.Ala213Val)
14g.49621907T>ACA486350364MGAT2c.639T>A (p.Ala213=)
gnomAD v4
14g.49621907T>CCA486350366MGAT2c.639T>C (p.Ala213=)
14g.49621907T>GCA486350368MGAT2c.639T>G (p.Ala213=)
14g.49621908G>ACA389619662MGAT2c.640G>A (p.Glu214Lys)
14g.49621908G>CCA389619658MGAT2c.640G>C (p.Glu214Gln)
14g.49621908G>TCA389619661MGAT2c.640G>T (p.Glu214Ter)
COSMIC
14g.49621909A>CCA389619664MGAT2c.641A>C (p.Glu214Ala)
14g.49621909A>GCA389619667MGAT2c.641A>G (p.Glu214Gly)
14g.49621909A>TCA389619670MGAT2c.641A>T (p.Glu214Val)
14g.49621910G>ACA486350370MGAT2c.642G>A (p.Glu214=)
14g.49621910G>CCA389619672MGAT2c.642G>C (p.Glu214Asp)
14g.49621910G>TCA389619673MGAT2c.642G>T (p.Glu214Asp)
14g.49621911T>ACA389619675MGAT2c.643T>A (p.Tyr215Asn)
14g.49621911T>CCA389619677MGAT2c.643T>C (p.Tyr215His)
14g.49621911T>GCA389619678MGAT2c.643T>G (p.Tyr215Asp)
14g.49621912A>CCA389619680MGAT2c.644A>C (p.Tyr215Ser)
14g.49621912A>GCA389619682MGAT2c.644A>G (p.Tyr215Cys)
14g.49621912A>TCA389619685MGAT2c.644A>T (p.Tyr215Phe)
14g.49621913T>ACA389619688MGAT2c.645T>A (p.Tyr215Ter)
14g.49621913T>CCA486350373MGAT2c.645T>C (p.Tyr215=)
14g.49621913T>GCA389619690MGAT2c.645T>G (p.Tyr215Ter)
14g.49621914C>ACA389619697MGAT2c.646C>A (p.Pro216Thr)
14g.49621914C>GCA389619694MGAT2c.646C>G (p.Pro216Ala)
14g.49621914C>TCA389619692MGAT2c.646C>T (p.Pro216Ser)
14g.49621915C>ACA389619700MGAT2c.647C>A (p.Pro216His)
14g.49621915C=CA2135804736MGAT2c.647C= (p.Pro216=)
14g.49621915C>GCA389619702MGAT2c.647C>G (p.Pro216Arg)
14g.49621915C>TCA389619704MGAT2c.647C>T (p.Pro216Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621916C>ACA486349710MGAT2c.648C>A (p.Pro216=)
gnomAD v4
14g.49621916C=CA2135804737MGAT2c.648C= (p.Pro216=)
14g.49621916C>GCA486349709MGAT2c.648C>G (p.Pro216=)
14g.49621916C>TCA7172586MGAT2c.648C>T (p.Pro216=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621917G>ACA389619707MGAT2c.649G>A (p.Asp217Asn)
14g.49621917G>CCA389619710MGAT2c.649G>C (p.Asp217His)
14g.49621917G>TCA389619712MGAT2c.649G>T (p.Asp217Tyr)
gnomAD v4
14g.49621918A=CA2135804738MGAT2c.650A= (p.Asp217=)
14g.49621918A>CCA389619713MGAT2c.650A>C (p.Asp217Ala)
14g.49621918A>GCA389619714MGAT2c.650A>G (p.Asp217Gly)
14g.49621918A>TCA389619716MGAT2c.650A>T (p.Asp217Val)
dbSNP
14g.49621919C>ACA389619718MGAT2c.651C>A (p.Asp217Glu)
14g.49621919C=CA2135804739MGAT2c.651C= (p.Asp217=)
14g.49621919C>GCA389619719MGAT2c.651C>G (p.Asp217Glu)
14g.49621919C>TCA7172587MGAT2c.651C>T (p.Asp217=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621920T>ACA389619727MGAT2c.652T>A (p.Ser218Thr)
14g.49621920T>CCA389619725MGAT2c.652T>C (p.Ser218Pro)
14g.49621920T>GCA389619722MGAT2c.652T>G (p.Ser218Ala)
14g.49621921C>ACA389619728MGAT2c.653C>A (p.Ser218Tyr)
14g.49621921C>GCA389619731MGAT2c.653C>G (p.Ser218Cys)
14g.49621921C>TCA389619734MGAT2c.653C>T (p.Ser218Phe)
14g.49621922C>ACA486349716MGAT2c.654C>A (p.Ser218=)
14g.49621922C>GCA486349718MGAT2c.654C>G (p.Ser218=)
14g.49621922C>TCA486349717MGAT2c.654C>T (p.Ser218=)
dbSNP
14g.49621923T>ACA389619735MGAT2c.655T>A (p.Phe219Ile)
14g.49621923T>CCA7172588MGAT2c.655T>C (p.Phe219Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621923T>GCA389619737MGAT2c.655T>G (p.Phe219Val)
14g.49621923T=CA2135804740MGAT2c.655T= (p.Phe219=)
14g.49621924T>ACA389619744MGAT2c.656T>A (p.Phe219Tyr)
14g.49621924T>CCA389619739MGAT2c.656T>C (p.Phe219Ser)
14g.49621924T>GCA389619742MGAT2c.656T>G (p.Phe219Cys)
14g.49621925C>ACA389619747MGAT2c.657C>A (p.Phe219Leu)
14g.49621925C=CA2135804741MGAT2c.657C= (p.Phe219=)
14g.49621925C>GCA389619750MGAT2c.657C>G (p.Phe219Leu)
14g.49621925C>TCA486349723MGAT2c.657C>T (p.Phe219=)
dbSNP gnomAD v4
14g.49621926G>ACA389619752MGAT2c.658G>A (p.Gly220Ser)
dbSNP
14g.49621926G>CCA389619754MGAT2c.658G>C (p.Gly220Arg)
14g.49621926G=CA2135804742MGAT2c.658G= (p.Gly220=)
14g.49621926G>TCA389619755MGAT2c.658G>T (p.Gly220Cys)
gnomAD v4
14g.49621927G>ACA389619758MGAT2c.659G>A (p.Gly220Asp)
gnomAD v4
14g.49621927G>CCA389619761MGAT2c.659G>C (p.Gly220Ala)
14g.49621927G>TCA389619759MGAT2c.659G>T (p.Gly220Val)
14g.49621927_49621928dupCA7172589MGAT2c.659_660dup (p.His221AlafsTer26)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621928C>ACA486349725MGAT2c.660C>A (p.Gly220=)
14g.49621928C=CA2135804743MGAT2c.660C= (p.Gly220=)
14g.49621928C>GCA486349726MGAT2c.660C>G (p.Gly220=)
14g.49621928C>TCA7172590MGAT2c.660C>T (p.Gly220=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.49621929C>ACA389619766MGAT2c.661C>A (p.His221Asn)
14g.49621929C>GCA389619767MGAT2c.661C>G (p.His221Asp)
14g.49621929C>TCA389619769MGAT2c.661C>T (p.His221Tyr)
14g.49621930A=CA2135804744MGAT2c.662A= (p.His221=)
14g.49621930A>CCA389619772MGAT2c.662A>C (p.His221Pro)
14g.49621930A>GCA7172591MGAT2c.662A>G (p.His221Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.49621930A>TCA389619775MGAT2c.662A>T (p.His221Leu)
gnomAD v4
14g.49621931T>ACA389619778MGAT2c.663T>A (p.His221Gln)
14g.49621931T>CCA486349731MGAT2c.663T>C (p.His221=)
dbSNP gnomAD v2 gnomAD v4
14g.49621931T>GCA389619781MGAT2c.663T>G (p.His221Gln)
14g.49621931T=CA2135804745MGAT2c.663T= (p.His221=)
14g.49621932T>ACA389619782MGAT2c.664T>A (p.Tyr222Asn)
14g.49621932T>CCA389619784MGAT2c.664T>C (p.Tyr222His)
14g.49621932T>GCA389619787MGAT2c.664T>G (p.Tyr222Asp)
14g.49621933A>CCA389619790MGAT2c.665A>C (p.Tyr222Ser)
14g.49621933A>GCA389619793MGAT2c.665A>G (p.Tyr222Cys)
gnomAD v4
14g.49621933A>TCA389619791MGAT2c.665A>T (p.Tyr222Phe)
14g.49621934T>ACA389619795MGAT2c.666T>A (p.Tyr222Ter)
14g.49621934T>CCA260660756MGAT2c.666T>C (p.Tyr222=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621934T>GCA389619798MGAT2c.666T>G (p.Tyr222Ter)
14g.49621934T=CA2135804746MGAT2c.666T= (p.Tyr222=)
14g.49621935A>CCA486349737MGAT2c.667A>C (p.Arg223=)
14g.49621935A>GCA389619801MGAT2c.667A>G (p.Arg223Gly)
14g.49621935A>TCA389619802MGAT2c.667A>T (p.Arg223Ter)
14g.49621939_49621940delCA2624726677MGAT2c.671_672del (p.Glu224GlyfsTer?)
gnomAD v4
14g.49621936G>ACA389619804MGAT2c.668G>A (p.Arg223Lys)
14g.49621936G>CCA389619807MGAT2c.668G>C (p.Arg223Thr)
14g.49621936G>TCA389619809MGAT2c.668G>T (p.Arg223Ile)
14g.49621937A>CCA389619812MGAT2c.669A>C (p.Arg223Ser)
14g.49621937A>GCA486349738MGAT2c.669A>G (p.Arg223=)
14g.49621937A>TCA389619813MGAT2c.669A>T (p.Arg223Ser)
14g.49621938G>ACA389619816MGAT2c.670G>A (p.Glu224Lys)
14g.49621938G>CCA389619818MGAT2c.670G>C (p.Glu224Gln)
14g.49621938G>TCA389619820MGAT2c.670G>T (p.Glu224Ter)
14g.49621939A=CA2135804747MGAT2c.671A= (p.Glu224=)
14g.49621939A>CCA389619828MGAT2c.671A>C (p.Glu224Ala)
14g.49621939A>GCA389619822MGAT2c.671A>G (p.Glu224Gly)
dbSNP gnomAD v3 gnomAD v4
14g.49621939A>TCA389619824MGAT2c.671A>T (p.Glu224Val)
14g.49621940G>ACA486349742MGAT2c.672G>A (p.Glu224=)
dbSNP gnomAD v4
14g.49621940G>CCA389619830MGAT2c.672G>C (p.Glu224Asp)
14g.49621940G=CA2135804748MGAT2c.672G= (p.Glu224=)
14g.49621940G>TCA389619832MGAT2c.672G>T (p.Glu224Asp)
14g.49621941G>ACA389619834MGAT2c.673G>A (p.Ala225Thr)
dbSNP gnomAD v4
14g.49621941G>CCA389619836MGAT2c.673G>C (p.Ala225Pro)
14g.49621941G=CA2135804749MGAT2c.673G= (p.Ala225=)
14g.49621941G>TCA389619837MGAT2c.673G>T (p.Ala225Ser)
14g.49621942C>ACA389619839MGAT2c.674C>A (p.Ala225Asp)
14g.49621942C>GCA389619841MGAT2c.674C>G (p.Ala225Gly)
14g.49621942C>TCA389619843MGAT2c.674C>T (p.Ala225Val)
14g.49621943C>ACA486349745MGAT2c.675C>A (p.Ala225=)
gnomAD v4
14g.49621943C>GCA486349747MGAT2c.675C>G (p.Ala225=)
14g.49621943C>TCA486349749MGAT2c.675C>T (p.Ala225=)
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)

Number of alleles fetched