Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.19999538_20008463dupCA2580611595MATN3c.224-2153_1168+903dup
c.224-2153_1042+903dup
2g.20005853C>ACA345950593MATN3c.681G>T (p.Met227Ile)
2g.20005853C>GCA345950594MATN3c.681G>C (p.Met227Ile)
2g.20005853C>TCA345950595MATN3c.681G>A (p.Met227Ile)
gnomAD v4
2g.20005854A=CA2493007859MATN3c.680T= (p.Met227=)
2g.20005854A>CCA345950596MATN3c.680T>G (p.Met227Arg)
2g.20005854A>GCA345950597MATN3c.680T>C (p.Met227Thr)
dbSNP
2g.20005854A>TCA345950598MATN3c.680T>A (p.Met227Lys)
2g.20005855T>ACA345950599MATN3c.679A>T (p.Met227Leu)
2g.20005855T>CCA345950600MATN3c.679A>G (p.Met227Val)
dbSNP gnomAD v3 gnomAD v4
2g.20005855T>GCA345950601MATN3c.679A>C (p.Met227Leu)
2g.20005855T=CA2493007860MATN3c.679A= (p.Met227=)
2g.20005856G>ACA425340961MATN3c.678C>T (p.Asp226=)
gnomAD v4
2g.20005856G>CCA345950602MATN3c.678C>G (p.Asp226Glu)
2g.20005856G=CA2493007861MATN3c.678C= (p.Asp226=)
2g.20005856G>TCA345950603MATN3c.678C>A (p.Asp226Glu)
dbSNP
2g.20005857T>ACA345950604MATN3c.677A>T (p.Asp226Val)
2g.20005857T>CCA345950605MATN3c.677A>G (p.Asp226Gly)
2g.20005857T>GCA345950606MATN3c.677A>C (p.Asp226Ala)
2g.20005858C>ACA345950607MATN3c.676G>T (p.Asp226Tyr)
2g.20005858C>GCA345950608MATN3c.676G>C (p.Asp226His)
2g.20005858C>TCA345950609MATN3c.676G>A (p.Asp226Asn)
gnomAD v4
2g.20005859T>ACA425340966MATN3c.675A>T (p.Ala225=)
2g.20005859T>CCA425340967MATN3c.675A>G (p.Ala225=)
2g.20005859T>GCA425340968MATN3c.675A>C (p.Ala225=)
2g.20005860G>ACA345950610MATN3c.674C>T (p.Ala225Val)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.20005860G>CCA345950611MATN3c.674C>G (p.Ala225Gly)
2g.20005860G=CA2493007862MATN3c.674C= (p.Ala225=)
2g.20005860G>TCA345950612MATN3c.674C>A (p.Ala225Glu)
gnomAD v4
2g.20005861C>ACA345950613MATN3c.673G>T (p.Ala225Ser)
2g.20005861C>GCA345950614MATN3c.673G>C (p.Ala225Pro)
2g.20005861C>TCA345950615MATN3c.673G>A (p.Ala225Thr)
2g.20005862C>ACA425340972MATN3c.672G>T (p.Arg224=)
gnomAD v4
2g.20005862C=CA2493007863MATN3c.672G= (p.Arg224=)
2g.20005862C>GCA425340971MATN3c.672G>C (p.Arg224=)
dbSNP
2g.20005862C>TCA425340970MATN3c.672G>A (p.Arg224=)
dbSNP
2g.20005863C>ACA345950616MATN3c.671G>T (p.Arg224Leu)
ClinVar gnomAD v4
2g.20005863C=CA2493007864MATN3c.671G= (p.Arg224=)
2g.20005863C>GCA345950617MATN3c.671G>C (p.Arg224Pro)
gnomAD v4
2g.20005863C>TCA1543926MATN3c.671G>A (p.Arg224Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.20005864G>ACA1543927MATN3c.670C>T (p.Arg224Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005864G>CCA345950618MATN3c.670C>G (p.Arg224Gly)
2g.20005864G=CA2493007865MATN3c.670C= (p.Arg224=)
2g.20005864G>TCA425340974MATN3c.670C>A (p.Arg224=)
2g.20005865G>ACA425340977MATN3c.669C>T (p.Asp223=)
2g.20005865G>CCA345950619MATN3c.669C>G (p.Asp223Glu)
2g.20005865G>TCA345950620MATN3c.669C>A (p.Asp223Glu)
2g.20005866T>ACA345950623MATN3c.668A>T (p.Asp223Val)
2g.20005866T>CCA345950622MATN3c.668A>G (p.Asp223Gly)
dbSNP
2g.20005866T>GCA345950621MATN3c.668A>C (p.Asp223Ala)
2g.20005866T=CA2493007866MATN3c.668A= (p.Asp223=)
2g.20005867C>ACA345950624MATN3c.667G>T (p.Asp223Tyr)
2g.20005867C=CA2493007867MATN3c.667G= (p.Asp223=)
2g.20005867C>GCA345950625MATN3c.667G>C (p.Asp223His)
gnomAD v4
2g.20005867C>TCA345950626MATN3c.667G>A (p.Asp223Asn)
dbSNP gnomAD v2 gnomAD v4
2g.20005868C>ACA425340979MATN3c.666G>T (p.Val222=)
2g.20005868C=CA2493007868MATN3c.666G= (p.Val222=)
2g.20005868C>GCA425340983MATN3c.666G>C (p.Val222=)
2g.20005868C>TCA425340981MATN3c.666G>A (p.Val222=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.20005869A>CCA345950627MATN3c.665T>G (p.Val222Gly)
2g.20005869A>GCA345950628MATN3c.665T>C (p.Val222Ala)
2g.20005869A>TCA345950629MATN3c.665T>A (p.Val222Glu)
2g.20005870C>ACA345950631MATN3c.664G>T (p.Val222Leu)
2g.20005870C=CA2493007869MATN3c.664G= (p.Val222=)
2g.20005870C>GCA345950630MATN3c.664G>C (p.Val222Leu)
gnomAD v4
2g.20005870C>TCA1543928MATN3c.664G>A (p.Val222Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005871G>ACA1543929MATN3c.663C>T (p.Gly221=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005871G>CCA425340987MATN3c.663C>G (p.Gly221=)
2g.20005871G=CA2493007870MATN3c.663C= (p.Gly221=)
2g.20005871G>TCA425340989MATN3c.663C>A (p.Gly221=)
2g.20005872C>ACA345950632MATN3c.662G>T (p.Gly221Val)
dbSNP
2g.20005872C=CA2493007871MATN3c.662G= (p.Gly221=)
2g.20005872C>GCA345950633MATN3c.662G>C (p.Gly221Ala)
2g.20005872C>TCA345950634MATN3c.662G>A (p.Gly221Asp)
2g.20005873C>ACA345950635MATN3c.661G>T (p.Gly221Cys)
2g.20005873C=CA2493007872MATN3c.661G= (p.Gly221=)
2g.20005873C>GCA345950636MATN3c.661G>C (p.Gly221Arg)
2g.20005873C>TCA345950637MATN3c.661G>A (p.Gly221Ser)
dbSNP gnomAD v2
2g.20005874C>ACA425340991MATN3c.660G>T (p.Val220=)
2g.20005874C>GCA425340993MATN3c.660G>C (p.Val220=)
2g.20005874C>TCA425340994MATN3c.660G>A (p.Val220=)
2g.20005875A=CA2493007873MATN3c.659T= (p.Val220=)
2g.20005875A>CCA345950639MATN3c.659T>G (p.Val220Gly)
2g.20005875A>GCA1543930MATN3c.659T>C (p.Val220Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005875A>TCA345950638MATN3c.659T>A (p.Val220Glu)
2g.20005876C>ACA345950640MATN3c.658G>T (p.Val220Leu)
2g.20005876C=CA2493007874MATN3c.658G= (p.Val220=)
2g.20005876C>GCA345950641MATN3c.658G>C (p.Val220Leu)
2g.20005876C>TCA1543931MATN3c.658G>A (p.Val220Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005877A>CCA425340995MATN3c.657T>G (p.Ala219=)
2g.20005877A>GCA425340997MATN3c.657T>C (p.Ala219=)
2g.20005877A>TCA425340998MATN3c.657T>A (p.Ala219=)
COSMIC
2g.20005878G>ACA345950642MATN3c.656C>T (p.Ala219Val)
dbSNP
2g.20005878G>CCA345950643MATN3c.656C>G (p.Ala219Gly)
2g.20005878G=CA2493007875MATN3c.656C= (p.Ala219=)
2g.20005878G>TCA254203MATN3c.656C>A (p.Ala219Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.20005879C>ACA345950644MATN3c.655G>T (p.Ala219Ser)
2g.20005879C>GCA345950646MATN3c.655G>C (p.Ala219Pro)
2g.20005879C>TCA345950645MATN3c.655G>A (p.Ala219Thr)
2g.20005880A=CA2493007876MATN3c.654T= (p.Tyr218=)
2g.20005880A>CCA345950647MATN3c.654T>G (p.Tyr218Ter)
2g.20005880A>GCA1543932MATN3c.654T>C (p.Tyr218=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005880A>TCA345950648MATN3c.654T>A (p.Tyr218Ter)
2g.20005881T>ACA345950649MATN3c.653A>T (p.Tyr218Phe)
2g.20005881T>CCA345950650MATN3c.653A>G (p.Tyr218Cys)
ClinVar dbSNP
2g.20005881T>GCA345950651MATN3c.653A>C (p.Tyr218Ser)
2g.20005881T=CA2493007877MATN3c.653A= (p.Tyr218=)
2g.20005882A>CCA345950652MATN3c.652T>G (p.Tyr218Asp)
gnomAD v4
2g.20005882A>GCA345950653MATN3c.652T>C (p.Tyr218His)
gnomAD v4
2g.20005882A>TCA345950654MATN3c.652T>A (p.Tyr218Asn)
ClinVar dbSNP
2g.20005883G>ACA1543933MATN3c.651C>T (p.Leu217=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005883G>CCA425341006MATN3c.651C>G (p.Leu217=)
2g.20005883G=CA2493007878MATN3c.651C= (p.Leu217=)
2g.20005883G>TCA425341007MATN3c.651C>A (p.Leu217=)
2g.20005883_20005884delinsTTCA2739274136MATN3c.650_651delinsAA (p.Leu217Gln)
ClinVar
2g.20005884A>CCA345950655MATN3c.650T>G (p.Leu217Arg)
2g.20005884A>GCA345950656MATN3c.650T>C (p.Leu217Pro)
2g.20005884A>TCA345950657MATN3c.650T>A (p.Leu217His)
2g.20005885G>ACA345950658MATN3c.649C>T (p.Leu217Phe)
2g.20005885G>CCA345950660MATN3c.649C>G (p.Leu217Val)
gnomAD v4
2g.20005885G>TCA345950659MATN3c.649C>A (p.Leu217Ile)
2g.20005886C>ACA345950661MATN3c.648G>T (p.Glu216Asp)
COSMIC
2g.20005886C>GCA345950662MATN3c.648G>C (p.Glu216Asp)
2g.20005886C>TCA425341012MATN3c.648G>A (p.Glu216=)
2g.20005887T>ACA345950663MATN3c.647A>T (p.Glu216Val)
2g.20005887T>CCA345950664MATN3c.647A>G (p.Glu216Gly)
dbSNP
2g.20005887T>GCA345950665MATN3c.647A>C (p.Glu216Ala)
2g.20005888C>ACA345950666MATN3c.646G>T (p.Glu216Ter)
2g.20005888C=CA2493007879MATN3c.646G= (p.Glu216=)
2g.20005888C>GCA345950667MATN3c.646G>C (p.Glu216Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005888C>TCA345950668MATN3c.646G>A (p.Glu216Lys)
2g.20005889A>CCA345950669MATN3c.645T>G (p.Ile215Met)
ClinVar dbSNP gnomAD v4
2g.20005889A>GCA425341016MATN3c.645T>C (p.Ile215=)
2g.20005889A>TCA425341015MATN3c.645T>A (p.Ile215=)
2g.20005890A=CA2493007880MATN3c.644T= (p.Ile215=)
2g.20005890A>CCA345950670MATN3c.644T>G (p.Ile215Ser)
2g.20005890A>GCA345950671MATN3c.644T>C (p.Ile215Thr)
2g.20005890A>TCA345950672MATN3c.644T>A (p.Ile215Asn)
dbSNP
2g.20005891T>ACA345950674MATN3c.643A>T (p.Ile215Phe)
2g.20005891T>CCA345950675MATN3c.643A>G (p.Ile215Val)
2g.20005891T>GCA345950673MATN3c.643A>C (p.Ile215Leu)
2g.20005891dupCA2580064968MATN3c.643dup (p.Ile215AsnfsTer2)
ClinVar
2g.20005892A>CCA425341020MATN3c.642T>G (p.Gly214=)
gnomAD v4
2g.20005892A>GCA425341022MATN3c.642T>C (p.Gly214=)
2g.20005892A>TCA425341023MATN3c.642T>A (p.Gly214=)
2g.20005893C>ACA345950676MATN3c.641G>T (p.Gly214Val)
ClinVar
2g.20005893C=CA2493007881MATN3c.641G= (p.Gly214=)
2g.20005893C>GCA1543934MATN3c.641G>C (p.Gly214Ala)
dbSNP ExAC gnomAD v2
2g.20005893C>TCA345950677MATN3c.641G>A (p.Gly214Asp)
2g.20005894C>ACA345950678MATN3c.640G>T (p.Gly214Cys)
dbSNP gnomAD v2 gnomAD v4
2g.20005894C=CA2493007882MATN3c.640G= (p.Gly214=)
2g.20005894C>GCA345950679MATN3c.640G>C (p.Gly214Arg)
2g.20005894C>TCA345950680MATN3c.640G>A (p.Gly214Ser)
gnomAD v4
2g.20005895A>CCA425341026MATN3c.639T>G (p.Ser213=)
2g.20005895A>GCA425341028MATN3c.639T>C (p.Ser213=)
gnomAD v4
2g.20005895A>TCA425341027MATN3c.639T>A (p.Ser213=)
2g.20005896G>ACA345950681MATN3c.638C>T (p.Ser213Phe)
2g.20005896G>CCA345950683MATN3c.638C>G (p.Ser213Cys)
2g.20005896G>TCA345950682MATN3c.638C>A (p.Ser213Tyr)
2g.20005897A>CCA345950684MATN3c.637T>G (p.Ser213Ala)
2g.20005897A>GCA345950685MATN3c.637T>C (p.Ser213Pro)
2g.20005897A>TCA345950686MATN3c.637T>A (p.Ser213Thr)
2g.20005898T>ACA425341032MATN3c.636A>T (p.Ala212=)
2g.20005898T>CCA1543935MATN3c.636A>G (p.Ala212=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005898T>GCA425341033MATN3c.636A>C (p.Ala212=)
2g.20005898T=CA2493007883MATN3c.636A= (p.Ala212=)
2g.20005899G>ACA345950687MATN3c.635C>T (p.Ala212Val)
gnomAD v4
2g.20005899G>CCA345950689MATN3c.635C>G (p.Ala212Gly)
2g.20005899G>TCA345950688MATN3c.635C>A (p.Ala212Glu)
gnomAD v4
2g.20005900C>ACA345950690MATN3c.634G>T (p.Ala212Ser)
COSMIC
2g.20005900C>GCA345950692MATN3c.634G>C (p.Ala212Pro)
2g.20005900C>TCA345950691MATN3c.634G>A (p.Ala212Thr)
2g.20005900_20005901insGACA2576684693MATN3c.633_634insTC (p.Ala212SerfsTer22)
2g.20005901T>ACA345950693MATN3c.633A>T (p.Gln211His)
gnomAD v4
2g.20005901T>CCA425341037MATN3c.633A>G (p.Gln211=)
2g.20005901T>GCA345950694MATN3c.633A>C (p.Gln211His)
2g.20005902T>ACA345950695MATN3c.632A>T (p.Gln211Leu)
2g.20005902T>CCA345950696MATN3c.632A>G (p.Gln211Arg)
dbSNP gnomAD v2 gnomAD v4
2g.20005902T>GCA345950697MATN3c.632A>C (p.Gln211Pro)
2g.20005902T=CA2493007884MATN3c.632A= (p.Gln211=)
2g.20005903G>ACA345950698MATN3c.631C>T (p.Gln211Ter)
2g.20005903G>CCA345950699MATN3c.631C>G (p.Gln211Glu)
dbSNP gnomAD v2 gnomAD v4
2g.20005903G=CA2493007885MATN3c.631C= (p.Gln211=)
2g.20005903G>TCA345950700MATN3c.631C>A (p.Gln211Lys)
2g.20005904G>ACA425341041MATN3c.630C>T (p.Ala210=)
gnomAD v4
2g.20005904G>CCA43403684MATN3c.630C>G (p.Ala210=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005904G=CA2493007886MATN3c.630C= (p.Ala210=)
2g.20005904G>TCA425341042MATN3c.630C>A (p.Ala210=)
2g.20005905G>ACA345950701MATN3c.629C>T (p.Ala210Val)
dbSNP gnomAD v3 gnomAD v4
2g.20005905G>CCA345950702MATN3c.629C>G (p.Ala210Gly)
2g.20005905G=CA2493007887MATN3c.629C= (p.Ala210=)
2g.20005905G>TCA345950703MATN3c.629C>A (p.Ala210Asp)
2g.20005906C>ACA345950705MATN3c.628G>T (p.Ala210Ser)
gnomAD v4
2g.20005906C>GCA501072MATN3c.628G>C (p.Ala210Pro)
gnomAD v4
2g.20005906C>TCA345950704MATN3c.628G>A (p.Ala210Thr)
2g.20005907C>ACA425341044MATN3c.627G>T (p.Arg209=)
2g.20005907C=CA2493007888MATN3c.627G= (p.Arg209=)
2g.20005907C>GCA1543936MATN3c.627G>C (p.Arg209=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005907C>TCA425341045MATN3c.627G>A (p.Arg209=)
2g.20005908C>ACA345950706MATN3c.626G>T (p.Arg209Leu)
gnomAD v4
2g.20005908C=CA2493007889MATN3c.626G= (p.Arg209=)
2g.20005908C>GCA1543937MATN3c.626G>C (p.Arg209Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005908C>TCA1543938MATN3c.626G>A (p.Arg209Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005909G>ACA1543940MATN3c.625C>T (p.Arg209Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005909G>CCA345950707MATN3c.625C>G (p.Arg209Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.20005909G=CA2493007890MATN3c.625C= (p.Arg209=)
2g.20005909G>TCA1543939MATN3c.625C>A (p.Arg209=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005910A>CCA425341050MATN3c.624T>G (p.Ala208=)
2g.20005910A>GCA425341048MATN3c.624T>C (p.Ala208=)
2g.20005910A>TCA425341049MATN3c.624T>A (p.Ala208=)
2g.20005910_20005913dupCA2658010944MATN3c.621_624dup (p.Arg209GlyfsTer9)
ClinVar gnomAD v4
2g.20005911G>ACA345950708MATN3c.623C>T (p.Ala208Val)
dbSNP gnomAD v4
2g.20005911G>CCA345950709MATN3c.623C>G (p.Ala208Gly)
dbSNP
2g.20005911G=CA2493007891MATN3c.623C= (p.Ala208=)
2g.20005911G>TCA345950710MATN3c.623C>A (p.Ala208Asp)
2g.20005912C>ACA345950711MATN3c.622G>T (p.Ala208Ser)
COSMIC
2g.20005912C=CA2493007892MATN3c.622G= (p.Ala208=)
2g.20005912C>GCA345950712MATN3c.622G>C (p.Ala208Pro)
dbSNP
2g.20005912C>TCA345950713MATN3c.622G>A (p.Ala208Thr)
dbSNP gnomAD v2
2g.20005913C>ACA425341053MATN3c.621G>T (p.Ala207=)
gnomAD v4
2g.20005913C=CA2493007893MATN3c.621G= (p.Ala207=)
2g.20005913C>GCA425341054MATN3c.621G>C (p.Ala207=)
2g.20005913C>TCA1543941MATN3c.621G>A (p.Ala207=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005914G>ACA1543942MATN3c.620C>T (p.Ala207Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005914G>CCA345950714MATN3c.620C>G (p.Ala207Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.20005914G=CA2493007894MATN3c.620C= (p.Ala207=)
2g.20005914G>TCA345950715MATN3c.620C>A (p.Ala207Glu)
2g.20005915C>ACA345950716MATN3c.619G>T (p.Ala207Ser)
2g.20005915C=CA2493007895MATN3c.619G= (p.Ala207=)
2g.20005915C>GCA345950717MATN3c.619G>C (p.Ala207Pro)
2g.20005915C>TCA345950718MATN3c.619G>A (p.Ala207Thr)
dbSNP gnomAD v2
2g.20005916C>ACA425341058MATN3c.618G>T (p.Val206=)
2g.20005916C>GCA425341059MATN3c.618G>C (p.Val206=)
2g.20005916C>TCA425341060MATN3c.618G>A (p.Val206=)
2g.20005917A>CCA345950721MATN3c.617T>G (p.Val206Gly)
2g.20005917A>GCA345950720MATN3c.617T>C (p.Val206Ala)
2g.20005917A>TCA345950719MATN3c.617T>A (p.Val206Glu)
2g.20005918C>ACA345950722MATN3c.616G>T (p.Val206Leu)
2g.20005918C>GCA345950723MATN3c.616G>C (p.Val206Leu)
2g.20005918C>TCA345950724MATN3c.616G>A (p.Val206Met)
2g.20005919C>ACA345950725MATN3c.615G>T (p.Glu205Asp)
dbSNP
2g.20005919C=CA1630834300MATN3c.615G= (p.Glu205=)
2g.20005919C>GCA345950726MATN3c.615G>C (p.Glu205Asp)
dbSNP
2g.20005919C>TCA201612MATN3c.615G>A (p.Glu205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005920T>ACA345950727MATN3c.614A>T (p.Glu205Val)
2g.20005920T>CCA345950729MATN3c.614A>G (p.Glu205Gly)
2g.20005920T>GCA345950728MATN3c.614A>C (p.Glu205Ala)
2g.20005921C>ACA1543943MATN3c.613G>T (p.Glu205Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005921C=CA2493007896MATN3c.613G= (p.Glu205=)
2g.20005921C>GCA345950730MATN3c.613G>C (p.Glu205Gln)
2g.20005921C>TCA345950731MATN3c.613G>A (p.Glu205Lys)
gnomAD v4
2g.20005922A=CA2493007897MATN3c.612T= (p.Asn204=)
2g.20005922A>CCA345950732MATN3c.612T>G (p.Asn204Lys)
2g.20005922A>GCA425341065MATN3c.612T>C (p.Asn204=)
2g.20005922A>TCA345950733MATN3c.612T>A (p.Asn204Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005923T>ACA345950734MATN3c.611A>T (p.Asn204Ile)
2g.20005923T>CCA345950735MATN3c.611A>G (p.Asn204Ser)
gnomAD v4
2g.20005923T>GCA345950736MATN3c.611A>C (p.Asn204Thr)
2g.20005924T>ACA345950737MATN3c.610A>T (p.Asn204Tyr)
2g.20005924T>CCA345950738MATN3c.610A>G (p.Asn204Asp)
2g.20005924T>GCA345950739MATN3c.610A>C (p.Asn204His)
2g.20005925C>ACA425341066MATN3c.609G>T (p.Val203=)
2g.20005925C>GCA425341067MATN3c.609G>C (p.Val203=)
2g.20005925C>TCA425341068MATN3c.609G>A (p.Val203=)
2g.20005926A>CCA345950740MATN3c.608T>G (p.Val203Gly)
2g.20005926A>GCA345950742MATN3c.608T>C (p.Val203Ala)
2g.20005926A>TCA345950741MATN3c.608T>A (p.Val203Glu)
2g.20005927C>ACA345950743MATN3c.607G>T (p.Val203Leu)
2g.20005927C=CA2493007898MATN3c.607G= (p.Val203=)
2g.20005927C>GCA345950744MATN3c.607G>C (p.Val203Leu)
dbSNP gnomAD v2 gnomAD v4
2g.20005927C>TCA345950745MATN3c.607G>A (p.Val203Met)
dbSNP gnomAD v2 gnomAD v4
2g.20005928C>ACA345950746MATN3c.606G>T (p.Gln202His)
2g.20005928C>GCA345950747MATN3c.606G>C (p.Gln202His)
2g.20005928C>TCA425341069MATN3c.606G>A (p.Gln202=)
2g.20005929T>ACA345950748MATN3c.605A>T (p.Gln202Leu)
2g.20005929T>CCA345950749MATN3c.605A>G (p.Gln202Arg)
2g.20005929T>GCA345950750MATN3c.605A>C (p.Gln202Pro)
2g.20005930G>ACA345950751MATN3c.604C>T (p.Gln202Ter)
gnomAD v4
2g.20005930G>CCA345950752MATN3c.604C>G (p.Gln202Glu)
gnomAD v4
2g.20005930G>TCA345950753MATN3c.604C>A (p.Gln202Lys)
gnomAD v4
2g.20005931G>ACA425341070MATN3c.603C>T (p.Asp201=)
dbSNP
2g.20005931G>CCA345950754MATN3c.603C>G (p.Asp201Glu)
2g.20005931G=CA2493007899MATN3c.603C= (p.Asp201=)
2g.20005931G>TCA345950755MATN3c.603C>A (p.Asp201Glu)
2g.20005932T>ACA345950758MATN3c.602A>T (p.Asp201Val)
2g.20005932T>CCA345950757MATN3c.602A>G (p.Asp201Gly)
dbSNP gnomAD v3 gnomAD v4
2g.20005932T>GCA345950756MATN3c.602A>C (p.Asp201Ala)
2g.20005932T=CA2493007900MATN3c.602A= (p.Asp201=)
2g.20005933C>ACA345950759MATN3c.601G>T (p.Asp201Tyr)
2g.20005933C=CA2493007901MATN3c.601G= (p.Asp201=)
2g.20005933C>GCA345950760MATN3c.601G>C (p.Asp201His)
2g.20005933C>TCA1543944MATN3c.601G>A (p.Asp201Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005934C>ACA345950761MATN3c.600G>T (p.Gln200His)
2g.20005934C>GCA345950762MATN3c.600G>C (p.Gln200His)
2g.20005934C>TCA425341071MATN3c.600G>A (p.Gln200=)
2g.20005935T>ACA345950763MATN3c.599A>T (p.Gln200Leu)
2g.20005935T>CCA345950764MATN3c.599A>G (p.Gln200Arg)
gnomAD v4
2g.20005935T>GCA345950765MATN3c.599A>C (p.Gln200Pro)
dbSNP gnomAD v3 gnomAD v4
2g.20005935T=CA2493007902MATN3c.599A= (p.Gln200=)
2g.20005936G>ACA345950766MATN3c.598C>T (p.Gln200Ter)
COSMIC
2g.20005936G>CCA345950767MATN3c.598C>G (p.Gln200Glu)
2g.20005936G>TCA345950768MATN3c.598C>A (p.Gln200Lys)
2g.20005937G>ACA425341072MATN3c.597C>T (p.Pro199=)
gnomAD v4
2g.20005937G>CCA425341074MATN3c.597C>G (p.Pro199=)
dbSNP
2g.20005937G=CA2493007903MATN3c.597C= (p.Pro199=)
2g.20005937G>TCA425341073MATN3c.597C>A (p.Pro199=)
gnomAD v4
2g.20005938G>ACA345950769MATN3c.596C>T (p.Pro199Leu)
2g.20005938G>CCA345950770MATN3c.596C>G (p.Pro199Arg)
2g.20005938G>TCA345950771MATN3c.596C>A (p.Pro199His)
2g.20005939G>ACA345950774MATN3c.595C>T (p.Pro199Ser)
2g.20005939G>CCA345950773MATN3c.595C>G (p.Pro199Ala)
2g.20005939G>TCA345950772MATN3c.595C>A (p.Pro199Thr)
2g.20005940C>ACA345950775MATN3c.594G>T (p.Arg198Ser)
2g.20005940C=CA2493007904MATN3c.594G= (p.Arg198=)
2g.20005940C>GCA345950776MATN3c.594G>C (p.Arg198Ser)
2g.20005940C>TCA1543945MATN3c.594G>A (p.Arg198=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005941C>ACA345950777MATN3c.593G>T (p.Arg198Met)
2g.20005941C=CA2493007905MATN3c.593G= (p.Arg198=)
2g.20005941C>GCA345950778MATN3c.593G>C (p.Arg198Thr)
2g.20005941C>TCA345950779MATN3c.593G>A (p.Arg198Lys)
dbSNP
2g.20005942T>ACA345950780MATN3c.592A>T (p.Arg198Trp)
2g.20005942T>CCA345950781MATN3c.592A>G (p.Arg198Gly)
gnomAD v4
2g.20005942T>GCA425341075MATN3c.592A>C (p.Arg198=)
2g.20005943C>ACA425341076MATN3c.591G>T (p.Gly197=)
2g.20005943C>GCA425341077MATN3c.591G>C (p.Gly197=)
2g.20005943C>TCA425341078MATN3c.591G>A (p.Gly197=)
2g.20005944C>ACA345950782MATN3c.590G>T (p.Gly197Val)
2g.20005944C>GCA345950783MATN3c.590G>C (p.Gly197Ala)
2g.20005944C>TCA345950784MATN3c.590G>A (p.Gly197Glu)
2g.20005945C>ACA345950785MATN3c.589G>T (p.Gly197Trp)
2g.20005945C=CA2493007906MATN3c.589G= (p.Gly197=)
2g.20005945C>GCA345950786MATN3c.589G>C (p.Gly197Arg)
2g.20005945C>TCA345950787MATN3c.589G>A (p.Gly197Arg)
dbSNP gnomAD v3 gnomAD v4
2g.20005946A>CCA345950788MATN3c.588T>G (p.Asp196Glu)
2g.20005946A>GCA425341079MATN3c.588T>C (p.Asp196=)
gnomAD v4
2g.20005946A>TCA345950789MATN3c.588T>A (p.Asp196Glu)
2g.20005947T>ACA345950790MATN3c.587A>T (p.Asp196Val)
gnomAD v4
2g.20005947T>CCA345950791MATN3c.587A>G (p.Asp196Gly)
2g.20005947T>GCA345950792MATN3c.587A>C (p.Asp196Ala)
gnomAD v4
2g.20005948C>ACA345950793MATN3c.586G>T (p.Asp196Tyr)
2g.20005948C>GCA345950794MATN3c.586G>C (p.Asp196His)
2g.20005948C>TCA345950795MATN3c.586G>A (p.Asp196Asn)
COSMIC
2g.20005949T>ACA425341080MATN3c.585A>T (p.Thr195=)
2g.20005949T>CCA425341082MATN3c.585A>G (p.Thr195=)
gnomAD v4
2g.20005949T>GCA425341081MATN3c.585A>C (p.Thr195=)
2g.20005950G>ACA1543946MATN3c.584C>T (p.Thr195Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005950G>CCA345950796MATN3c.584C>G (p.Thr195Arg)
2g.20005950G=CA2493007907MATN3c.584C= (p.Thr195=)
2g.20005950G>TCA345950797MATN3c.584C>A (p.Thr195Lys)
ClinVar dbSNP
2g.20005951T>ACA345950798MATN3c.583A>T (p.Thr195Ser)
2g.20005951T>CCA345950799MATN3c.583A>G (p.Thr195Ala)
2g.20005951T>GCA345950800MATN3c.583A>C (p.Thr195Pro)
2g.20005952A=CA2493007908MATN3c.582T= (p.Val194=)
2g.20005952A>CCA425341083MATN3c.582T>G (p.Val194=)
dbSNP
2g.20005952A>GCA425341084MATN3c.582T>C (p.Val194=)
2g.20005952A>TCA425341085MATN3c.582T>A (p.Val194=)
2g.20005953A=CA2493007909MATN3c.581T= (p.Val194=)
2g.20005953A>CCA345950801MATN3c.581T>G (p.Val194Gly)
2g.20005953A>GCA345950802MATN3c.581T>C (p.Val194Ala)
2g.20005953A>TCA254202MATN3c.581T>A (p.Val194Asp)
ClinVar dbSNP

Number of alleles fetched