Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.19999538_20008463dupCA2580611595MATN3c.224-2153_1168+903dup
c.224-2153_1042+903dup
2g.20005774G>ACA345950419MATN3c.760C>T (p.Leu254Phe)
2g.20005774G>CCA345950418MATN3c.760C>G (p.Leu254Val)
2g.20005774G=CA2493007821MATN3c.760C= (p.Leu254=)
2g.20005774G>TCA345950417MATN3c.760C>A (p.Leu254Ile)
dbSNP gnomAD v2 gnomAD v4
2g.20005775T>ACA345950420MATN3c.759A>T (p.Lys253Asn)
2g.20005775T>CCA1543910MATN3c.759A>G (p.Lys253=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005775T>GCA345950421MATN3c.759A>C (p.Lys253Asn)
2g.20005775T=CA2493007823MATN3c.759A= (p.Lys253=)
2g.20005777dupCA2493007822MATN3c.759dup (p.Leu254ThrfsTer4)
dbSNP
2g.20005776T>ACA345950422MATN3c.758A>T (p.Lys253Ile)
2g.20005776T>CCA345950423MATN3c.758A>G (p.Lys253Arg)
2g.20005776T>GCA345950424MATN3c.758A>C (p.Lys253Thr)
2g.20005777T>ACA345950425MATN3c.757A>T (p.Lys253Ter)
2g.20005777T>CCA43403539MATN3c.757A>G (p.Lys253Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005777T>GCA345950426MATN3c.757A>C (p.Lys253Gln)
2g.20005777T=CA2493007824MATN3c.757A= (p.Lys253=)
2g.20005778C>ACA345950427MATN3c.756G>T (p.Glu252Asp)
2g.20005778C>GCA345950428MATN3c.756G>C (p.Glu252Asp)
2g.20005778C>TCA425340831MATN3c.756G>A (p.Glu252=)
2g.20005779T>ACA345950429MATN3c.755A>T (p.Glu252Val)
2g.20005779T>CCA345950430MATN3c.755A>G (p.Glu252Gly)
2g.20005779T>GCA345950431MATN3c.755A>C (p.Glu252Ala)
2g.20005779_20005781delinsTCACA2493007825MATN3c.753_755delinsTGA (p.Ile251=)
2g.20005780C>ACA345950432MATN3c.754G>T (p.Glu252Ter)
gnomAD v4
2g.20005780C=CA2493007827MATN3c.754G= (p.Glu252=)
2g.20005780C>GCA345950433MATN3c.754G>C (p.Glu252Gln)
2g.20005780C>TCA1543911MATN3c.754G>A (p.Glu252Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005780_20005781delCA2493007826MATN3c.753_754del (p.Lys253ThrfsTer4)
dbSNP
2g.20005781A>CCA345950434MATN3c.753T>G (p.Ile251Met)
2g.20005781A>GCA425340835MATN3c.753T>C (p.Ile251=)
2g.20005781A>TCA425340836MATN3c.753T>A (p.Ile251=)
2g.20005782A=CA2493007828MATN3c.752T= (p.Ile251=)
2g.20005782A>CCA345950435MATN3c.752T>G (p.Ile251Ser)
2g.20005782A>GCA1543912MATN3c.752T>C (p.Ile251Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005782A>TCA345950436MATN3c.752T>A (p.Ile251Asn)
2g.20005783T>ACA345950437MATN3c.751A>T (p.Ile251Phe)
2g.20005783T>CCA345950438MATN3c.751A>G (p.Ile251Val)
2g.20005783T>GCA345950439MATN3c.751A>C (p.Ile251Leu)
2g.20005784G>ACA425340841MATN3c.750C>T (p.Val250=)
gnomAD v4
2g.20005784G>CCA425340842MATN3c.750C>G (p.Val250=)
2g.20005784G>TCA425340843MATN3c.750C>A (p.Val250=)
gnomAD v4
2g.20005785A>CCA345950440MATN3c.749T>G (p.Val250Gly)
2g.20005785A>GCA345950441MATN3c.749T>C (p.Val250Ala)
2g.20005785A>TCA345950442MATN3c.749T>A (p.Val250Asp)
2g.20005786C>ACA345950443MATN3c.748G>T (p.Val250Phe)
2g.20005786C>GCA345950444MATN3c.748G>C (p.Val250Leu)
2g.20005786C>TCA345950445MATN3c.748G>A (p.Val250Ile)
2g.20005789dupCA2749074460MATN3c.748dup (p.Val250GlyfsTer3)
2g.20005787C>ACA425340849MATN3c.747G>T (p.Gly249=)
2g.20005787C>GCA425340848MATN3c.747G>C (p.Gly249=)
2g.20005787C>TCA425340847MATN3c.747G>A (p.Gly249=)
2g.20005788C>ACA345950448MATN3c.746G>T (p.Gly249Val)
2g.20005788C>GCA345950446MATN3c.746G>C (p.Gly249Ala)
gnomAD v4
2g.20005788C>TCA345950447MATN3c.746G>A (p.Gly249Glu)
2g.20005789C>ACA345950449MATN3c.745G>T (p.Gly249Trp)
gnomAD v4
2g.20005789C>GCA345950450MATN3c.745G>C (p.Gly249Arg)
2g.20005789C>TCA345950451MATN3c.745G>A (p.Gly249Arg)
gnomAD v4
2g.20005790A>CCA345950452MATN3c.744T>G (p.Tyr248Ter)
gnomAD v4
2g.20005790A>GCA425340853MATN3c.744T>C (p.Tyr248=)
gnomAD v4
2g.20005790A>TCA345950453MATN3c.744T>A (p.Tyr248Ter)
2g.20005791T>ACA345950454MATN3c.743A>T (p.Tyr248Phe)
2g.20005791T>CCA345950455MATN3c.743A>G (p.Tyr248Cys)
2g.20005791T>GCA345950456MATN3c.743A>C (p.Tyr248Ser)
2g.20005792A>CCA345950457MATN3c.742T>G (p.Tyr248Asp)
2g.20005792A>GCA345950458MATN3c.742T>C (p.Tyr248His)
2g.20005792A>TCA345950459MATN3c.742T>A (p.Tyr248Asn)
2g.20005793G>ACA425340856MATN3c.741C>T (p.Thr247=)
2g.20005793G>CCA425340858MATN3c.741C>G (p.Thr247=)
2g.20005793G>TCA425340857MATN3c.741C>A (p.Thr247=)
2g.20005794G>ACA345950460MATN3c.740C>T (p.Thr247Ile)
gnomAD v4
2g.20005794G>CCA345950462MATN3c.740C>G (p.Thr247Ser)
2g.20005794G>TCA345950461MATN3c.740C>A (p.Thr247Asn)
2g.20005795T>ACA345950463MATN3c.739A>T (p.Thr247Ser)
2g.20005795T>CCA345950465MATN3c.739A>G (p.Thr247Ala)
gnomAD v4
2g.20005795T>GCA345950464MATN3c.739A>C (p.Thr247Pro)
2g.20005796C>ACA1543913MATN3c.738G>T (p.Glu246Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005796C=CA2493007829MATN3c.738G= (p.Glu246=)
2g.20005796C>GCA345950466MATN3c.738G>C (p.Glu246Asp)
2g.20005796C>TCA425340864MATN3c.738G>A (p.Glu246=)
2g.20005797T>ACA345950467MATN3c.737A>T (p.Glu246Val)
2g.20005797T>CCA345950468MATN3c.737A>G (p.Glu246Gly)
gnomAD v4
2g.20005797T>GCA345950469MATN3c.737A>C (p.Glu246Ala)
2g.20005798C>ACA345950470MATN3c.736G>T (p.Glu246Ter)
gnomAD v4
2g.20005798C>GCA345950471MATN3c.736G>C (p.Glu246Gln)
2g.20005798C>TCA345950472MATN3c.736G>A (p.Glu246Lys)
2g.20005799C>ACA425340869MATN3c.735G>T (p.Val245=)
gnomAD v4
2g.20005799C>GCA425340871MATN3c.735G>C (p.Val245=)
2g.20005799C>TCA425340873MATN3c.735G>A (p.Val245=)
2g.20005800A=CA2493007830MATN3c.734T= (p.Val245=)
2g.20005800A>CCA345950473MATN3c.734T>G (p.Val245Gly)
2g.20005800A>GCA345950474MATN3c.734T>C (p.Val245Ala)
dbSNP
2g.20005800A>TCA345950475MATN3c.734T>A (p.Val245Glu)
2g.20005801C>ACA345950476MATN3c.733G>T (p.Val245Leu)
ClinVar dbSNP
2g.20005801C=CA2493007831MATN3c.733G= (p.Val245=)
2g.20005801C>GCA1543915MATN3c.733G>C (p.Val245Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005801C>TCA1543914MATN3c.733G>A (p.Val245Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005802G>ACA1543916MATN3c.732C>T (p.Tyr244=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005802G>CCA345950477MATN3c.732C>G (p.Tyr244Ter)
2g.20005802G=CA2493007832MATN3c.732C= (p.Tyr244=)
2g.20005802G>TCA345950478MATN3c.732C>A (p.Tyr244Ter)
gnomAD v4
2g.20005803T>ACA345950479MATN3c.731A>T (p.Tyr244Phe)
gnomAD v4
2g.20005803T>CCA345950480MATN3c.731A>G (p.Tyr244Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005803T>GCA345950481MATN3c.731A>C (p.Tyr244Ser)
2g.20005803T=CA2493007833MATN3c.731A= (p.Tyr244=)
2g.20005804A=CA2493007834MATN3c.730T= (p.Tyr244=)
2g.20005804A>CCA345950482MATN3c.730T>G (p.Tyr244Asp)
2g.20005804A>GCA345950483MATN3c.730T>C (p.Tyr244His)
dbSNP gnomAD v2 gnomAD v4
2g.20005804A>TCA345950484MATN3c.730T>A (p.Tyr244Asn)
2g.20005805G>ACA425340883MATN3c.729C>T (p.Phe243=)
gnomAD v4
2g.20005805G>CCA345950485MATN3c.729C>G (p.Phe243Leu)
2g.20005805G=CA2493007835MATN3c.729C= (p.Phe243=)
2g.20005805G>TCA345950486MATN3c.729C>A (p.Phe243Leu)
dbSNP gnomAD v2
2g.20005806A>CCA345950489MATN3c.728T>G (p.Phe243Cys)
2g.20005806A>GCA345950488MATN3c.728T>C (p.Phe243Ser)
gnomAD v4
2g.20005806A>TCA345950487MATN3c.728T>A (p.Phe243Tyr)
2g.20005807A>CCA345950490MATN3c.727T>G (p.Phe243Val)
2g.20005807A>GCA345950491MATN3c.727T>C (p.Phe243Leu)
2g.20005807A>TCA345950492MATN3c.727T>A (p.Phe243Ile)
2g.20005808A>CCA425340891MATN3c.726T>G (p.Val242=)
2g.20005808A>GCA425340890MATN3c.726T>C (p.Val242=)
2g.20005808A>TCA425340889MATN3c.726T>A (p.Val242=)
2g.20005809A>CCA345950493MATN3c.725T>G (p.Val242Gly)
2g.20005809A>GCA345950494MATN3c.725T>C (p.Val242Ala)
2g.20005809A>TCA345950495MATN3c.725T>A (p.Val242Asp)
2g.20005810C>ACA345950498MATN3c.724G>T (p.Val242Phe)
2g.20005810C>GCA345950496MATN3c.724G>C (p.Val242Leu)
2g.20005810C>TCA345950497MATN3c.724G>A (p.Val242Ile)
gnomAD v4
2g.20005811A=CA2493007836MATN3c.723T= (p.His241=)
2g.20005811A>CCA345950499MATN3c.723T>G (p.His241Gln)
gnomAD v4
2g.20005811A>GCA43403571MATN3c.723T>C (p.His241=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005811A>TCA345950500MATN3c.723T>A (p.His241Gln)
gnomAD v4
2g.20005812T>ACA345950501MATN3c.722A>T (p.His241Leu)
2g.20005812T>CCA345950502MATN3c.722A>G (p.His241Arg)
2g.20005812T>GCA345950503MATN3c.722A>C (p.His241Pro)
2g.20005813G>ACA345950504MATN3c.721C>T (p.His241Tyr)
gnomAD v4
2g.20005813G>CCA345950506MATN3c.721C>G (p.His241Asp)
2g.20005813G>TCA345950505MATN3c.721C>A (p.His241Asn)
2g.20005814C>ACA345950507MATN3c.720G>T (p.Glu240Asp)
dbSNP gnomAD v2 gnomAD v4
2g.20005814C=CA2493007837MATN3c.720G= (p.Glu240=)
2g.20005814C>GCA345950508MATN3c.720G>C (p.Glu240Asp)
2g.20005814C>TCA425340902MATN3c.720G>A (p.Glu240=)
gnomAD v4
2g.20005815T>ACA345950509MATN3c.719A>T (p.Glu240Val)
2g.20005815T>CCA345950510MATN3c.719A>G (p.Glu240Gly)
2g.20005815T>GCA345950511MATN3c.719A>C (p.Glu240Ala)
2g.20005816C>ACA345950512MATN3c.718G>T (p.Glu240Ter)
2g.20005816C>GCA345950513MATN3c.718G>C (p.Glu240Gln)
2g.20005816C>TCA345950514MATN3c.718G>A (p.Glu240Lys)
gnomAD v4
2g.20005817C>ACA345950515MATN3c.717G>T (p.Glu239Asp)
2g.20005817C=CA2493007838MATN3c.717G= (p.Glu239=)
2g.20005817C>GCA345950516MATN3c.717G>C (p.Glu239Asp)
gnomAD v3 gnomAD v4
2g.20005817C>TCA425340907MATN3c.717G>A (p.Glu239=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005818T>ACA345950519MATN3c.716A>T (p.Glu239Val)
2g.20005818T>CCA345950518MATN3c.716A>G (p.Glu239Gly)
2g.20005818T>GCA345950517MATN3c.716A>C (p.Glu239Ala)
2g.20005819C>ACA345950520MATN3c.715G>T (p.Glu239Ter)
2g.20005819C=CA2493007839MATN3c.715G= (p.Glu239=)
2g.20005819C>GCA345950522MATN3c.715G>C (p.Glu239Gln)
dbSNP gnomAD v3 gnomAD v4
2g.20005819C>TCA345950521MATN3c.715G>A (p.Glu239Lys)
COSMIC
2g.20005820T>ACA425340911MATN3c.714A>T (p.Leu238=)
2g.20005820T>CCA425340909MATN3c.714A>G (p.Leu238=)
dbSNP gnomAD v3 gnomAD v4
2g.20005820T>GCA425340910MATN3c.714A>C (p.Leu238=)
2g.20005820T=CA2493007840MATN3c.714A= (p.Leu238=)
2g.20005821A>CCA345950523MATN3c.713T>G (p.Leu238Arg)
2g.20005821A>GCA345950524MATN3c.713T>C (p.Leu238Pro)
2g.20005821A>TCA345950525MATN3c.713T>A (p.Leu238Gln)
2g.20005822G>ACA425340912MATN3c.712C>T (p.Leu238=)
dbSNP gnomAD v2
2g.20005822G>CCA345950526MATN3c.712C>G (p.Leu238Val)
2g.20005822G=CA2493007841MATN3c.712C= (p.Leu238=)
2g.20005822G>TCA345950527MATN3c.712C>A (p.Leu238Ile)
2g.20005823G>ACA425340914MATN3c.711C>T (p.Pro237=)
2g.20005823G>CCA425340915MATN3c.711C>G (p.Pro237=)
dbSNP gnomAD v2 gnomAD v4
2g.20005823G=CA2493007842MATN3c.711C= (p.Pro237=)
2g.20005823G>TCA425340916MATN3c.711C>A (p.Pro237=)
2g.20005824G>ACA1543917MATN3c.710C>T (p.Pro237Leu)
dbSNP ExAC gnomAD v2
2g.20005824G>CCA345950528MATN3c.710C>G (p.Pro237Arg)
2g.20005824G=CA2493007843MATN3c.710C= (p.Pro237=)
2g.20005824G>TCA345950529MATN3c.710C>A (p.Pro237His)
2g.20005825G>ACA345950530MATN3c.709C>T (p.Pro237Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.20005825G>CCA345950531MATN3c.709C>G (p.Pro237Ala)
2g.20005825G=CA2493007844MATN3c.709C= (p.Pro237=)
2g.20005825G>TCA345950532MATN3c.709C>A (p.Pro237Thr)
dbSNP gnomAD v2 gnomAD v4
2g.20005826C>ACA345950533MATN3c.708G>T (p.Glu236Asp)
gnomAD v4
2g.20005826C=CA2493007845MATN3c.708G= (p.Glu236=)
2g.20005826C>GCA345950534MATN3c.708G>C (p.Glu236Asp)
2g.20005826C>TCA425340921MATN3c.708G>A (p.Glu236=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005827T>ACA345950537MATN3c.707A>T (p.Glu236Val)
2g.20005827T>CCA345950535MATN3c.707A>G (p.Glu236Gly)
gnomAD v4
2g.20005827T>GCA345950536MATN3c.707A>C (p.Glu236Ala)
2g.20005828C>ACA345950538MATN3c.706G>T (p.Glu236Ter)
gnomAD v4
2g.20005828C>GCA345950539MATN3c.706G>C (p.Glu236Gln)
2g.20005828C>TCA345950540MATN3c.706G>A (p.Glu236Lys)
2g.20005829A=CA2493007846MATN3c.705T= (p.Ser235=)
2g.20005829A>CCA345950541MATN3c.705T>G (p.Ser235Arg)
2g.20005829A>GCA1543918MATN3c.705T>C (p.Ser235=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005829A>TCA345950542MATN3c.705T>A (p.Ser235Arg)
2g.20005830C>ACA345950543MATN3c.704G>T (p.Ser235Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005830C=CA2493007847MATN3c.704G= (p.Ser235=)
2g.20005830C>GCA345950544MATN3c.704G>C (p.Ser235Thr)
gnomAD v4
2g.20005830C>TCA345950545MATN3c.704G>A (p.Ser235Asn)
dbSNP gnomAD v3 gnomAD v4
2g.20005831T>ACA345950546MATN3c.703A>T (p.Ser235Cys)
2g.20005831T>CCA345950547MATN3c.703A>G (p.Ser235Gly)
2g.20005831T>GCA345950548MATN3c.703A>C (p.Ser235Arg)
2g.20005832G>ACA425340930MATN3c.702C>T (p.Ala234=)
2g.20005832G>CCA425340931MATN3c.702C>G (p.Ala234=)
2g.20005832G>TCA425340932MATN3c.702C>A (p.Ala234=)
2g.20005833G>ACA345950549MATN3c.701C>T (p.Ala234Val)
dbSNP gnomAD v4
2g.20005833G>CCA345950551MATN3c.701C>G (p.Ala234Gly)
2g.20005833G=CA2493007848MATN3c.701C= (p.Ala234=)
2g.20005833G>TCA345950550MATN3c.701C>A (p.Ala234Asp)
2g.20005834C>ACA345950552MATN3c.700G>T (p.Ala234Ser)
2g.20005834C=CA2493007849MATN3c.700G= (p.Ala234=)
2g.20005834C>GCA345950553MATN3c.700G>C (p.Ala234Pro)
2g.20005834C>TCA43403576MATN3c.700G>A (p.Ala234Thr)
dbSNP
2g.20005835C>ACA345950554MATN3c.699G>T (p.Met233Ile)
2g.20005835C>GCA345950555MATN3c.699G>C (p.Met233Ile)
2g.20005835C>TCA345950556MATN3c.699G>A (p.Met233Ile)
2g.20005836A=CA2493007850MATN3c.698T= (p.Met233=)
2g.20005836A>CCA345950557MATN3c.698T>G (p.Met233Arg)
2g.20005836A>GCA345950558MATN3c.698T>C (p.Met233Thr)
dbSNP gnomAD v2 gnomAD v4
2g.20005836A>TCA345950559MATN3c.698T>A (p.Met233Lys)
2g.20005837T>ACA345950560MATN3c.697A>T (p.Met233Leu)
2g.20005837T>CCA345950561MATN3c.697A>G (p.Met233Val)
2g.20005837T>GCA345950562MATN3c.697A>C (p.Met233Leu)
2g.20005838C>ACA345950565MATN3c.696G>T (p.Met232Ile)
gnomAD v4
2g.20005838C>GCA345950563MATN3c.696G>C (p.Met232Ile)
2g.20005838C>TCA345950564MATN3c.696G>A (p.Met232Ile)
ClinVar
2g.20005839A>CCA345950566MATN3c.695T>G (p.Met232Arg)
2g.20005839A>GCA345950567MATN3c.695T>C (p.Met232Thr)
ClinVar gnomAD v4 COSMIC
2g.20005839A>TCA345950568MATN3c.695T>A (p.Met232Lys)
2g.20005840T>ACA345950569MATN3c.694A>T (p.Met232Leu)
ClinVar
2g.20005840T>CCA345950570MATN3c.694A>G (p.Met232Val)
2g.20005840T>GCA345950571MATN3c.694A>C (p.Met232Leu)
2g.20005841C>ACA345950572MATN3c.693G>T (p.Lys231Asn)
2g.20005841C=CA2493007851MATN3c.693G= (p.Lys231=)
2g.20005841C>GCA1543919MATN3c.693G>C (p.Lys231Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005841C>TCA425340943MATN3c.693G>A (p.Lys231=)
2g.20005842T>ACA345950573MATN3c.692A>T (p.Lys231Met)
2g.20005842T>CCA1543920MATN3c.692A>G (p.Lys231Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005842T>GCA345950574MATN3c.692A>C (p.Lys231Thr)
2g.20005842T=CA2493007852MATN3c.692A= (p.Lys231=)
2g.20005843T>ACA345950576MATN3c.691A>T (p.Lys231Ter)
2g.20005843T>CCA345950577MATN3c.691A>G (p.Lys231Glu)
2g.20005843T>GCA345950575MATN3c.691A>C (p.Lys231Gln)
gnomAD v4
2g.20005844G>ACA425340948MATN3c.690C>T (p.Leu230=)
gnomAD v4
2g.20005844G>CCA1543921MATN3c.690C>G (p.Leu230=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005844G=CA2493007853MATN3c.690C= (p.Leu230=)
2g.20005844G>TCA425340949MATN3c.690C>A (p.Leu230=)
2g.20005845A>CCA345950578MATN3c.689T>G (p.Leu230Arg)
2g.20005845A>GCA345950579MATN3c.689T>C (p.Leu230Pro)
2g.20005845A>TCA345950580MATN3c.689T>A (p.Leu230His)
2g.20005846G>ACA345950581MATN3c.688C>T (p.Leu230Phe)
2g.20005846G>CCA345950582MATN3c.688C>G (p.Leu230Val)
2g.20005846G>TCA345950583MATN3c.688C>A (p.Leu230Ile)
2g.20005847G>ACA43403589MATN3c.687C>T (p.Ser229=)
dbSNP gnomAD v2
2g.20005847G>CCA43403592MATN3c.687C>G (p.Ser229=)
dbSNP gnomAD v4
2g.20005847G=CA2493007854MATN3c.687C= (p.Ser229=)
2g.20005847G>TCA425340953MATN3c.687C>A (p.Ser229=)
2g.20005848G>ACA345950584MATN3c.686C>T (p.Ser229Phe)
2g.20005848G>CCA345950585MATN3c.686C>G (p.Ser229Cys)
2g.20005848G=CA2493007855MATN3c.686C= (p.Ser229=)
2g.20005848G>TCA1543922MATN3c.686C>A (p.Ser229Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005849A=CA2493007856MATN3c.685T= (p.Ser229=)
2g.20005849A>CCA345950586MATN3c.685T>G (p.Ser229Ala)
2g.20005849A>GCA345950587MATN3c.685T>C (p.Ser229Pro)
2g.20005849A>TCA345950588MATN3c.685T>A (p.Ser229Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005850C>ACA425340957MATN3c.684G>T (p.Ala228=)
2g.20005850C=CA2493007857MATN3c.684G= (p.Ala228=)
2g.20005850C>GCA425340958MATN3c.684G>C (p.Ala228=)
2g.20005850C>TCA1543923MATN3c.684G>A (p.Ala228=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005851G>ACA1543924MATN3c.683C>T (p.Ala228Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005851G>CCA345950589MATN3c.683C>G (p.Ala228Gly)
2g.20005851G=CA2493007858MATN3c.683C= (p.Ala228=)
2g.20005851G>TCA1543925MATN3c.683C>A (p.Ala228Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005852C>ACA345950590MATN3c.682G>T (p.Ala228Ser)
2g.20005852C>GCA345950591MATN3c.682G>C (p.Ala228Pro)
2g.20005852C>TCA345950592MATN3c.682G>A (p.Ala228Thr)
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=)

Number of alleles fetched