Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.19999538_20008463dupCA2580611595MATN3c.224-2153_1168+903dup
c.224-2153_1042+903dup
2g.20005575G>ACA2493007726MATN3c.790+169C>T (n.790+169C>T)
dbSNP
2g.20005575G=CA2493007725MATN3c.790+169C= (n.790+169C=)
2g.20005580_20005606delinsTCGCACACACGCGCGCATGCACACGTGCA2493007727MATN3c.790+138_790+164delinsCACGTGTGCATGCGCGCGTGTGTGCGA (n.790+138_790+164delinsCACGTGTGCATGCGCGCGTGTGTGCGA)
2g.20005581C=CA2493007728MATN3c.790+163G= (n.790+163G=)
2g.20005581C>TCA43403254MATN3c.790+163G>A (n.790+163G>A)
dbSNP gnomAD v3 gnomAD v4
2g.20005582_20005607delCA530853122MATN3c.790+138_790+163del (n.790+138_790+163del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005582G>ACA43403256MATN3c.790+162C>T (n.790+162C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005582G=CA2493007729MATN3c.790+162C= (n.790+162C=)
2g.20005582_20005584delinsGCACA2493007730MATN3c.790+160_790+162delinsTGC (n.790+160_790+162delinsTGC)
2g.20005588_20005589delCA763243777MATN3c.790+160_790+161del (n.790+160_790+161del)
dbSNP gnomAD v3 gnomAD v4
2g.20005583_20005597delinsCACACACGCGCGCATCA2493007731MATN3c.790+147_790+161delinsATGCGCGCGTGTGTG (n.790+147_790+161delinsATGCGCGCGTGTGTG)
2g.20005584A=CA2493007732MATN3c.790+160T= (n.790+160T=)
2g.20005584A>TCA2493007733MATN3c.790+160T>A (n.790+160T>A)
dbSNP
2g.20005584_20005597delCA530853123MATN3c.790+147_790+160del (n.790+147_790+160del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005585C=CA2493007734MATN3c.790+159G= (n.790+159G=)
2g.20005585C>TCA763243779MATN3c.790+159G>A (n.790+159G>A)
dbSNP
2g.20005588A=CA2493007735MATN3c.790+156T= (n.790+156T=)
2g.20005588A>GCA763243780MATN3c.790+156T>C (n.790+156T>C)
dbSNP gnomAD v3 gnomAD v4
2g.20005588_20005590delinsACGCA2493007736MATN3c.790+154_790+156delinsCGT (n.790+154_790+156delinsCGT)
2g.20005589C=CA2493007738MATN3c.790+155G= (n.790+155G=)
2g.20005589C>TCA43403261MATN3c.790+155G>A (n.790+155G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005594_20005595delCA2493007737MATN3c.790+154_790+155del (n.790+154_790+155del)
dbSNP
2g.20005590G>ACA43403265MATN3c.790+154C>T (n.790+154C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005590G=CA2493007739MATN3c.790+154C= (n.790+154C=)
2g.20005591C>ACA763243787MATN3c.790+153G>T (n.790+153G>T)
dbSNP gnomAD v3 gnomAD v4
2g.20005591C=CA2493007740MATN3c.790+153G= (n.790+153G=)
2g.20005591C>TCA43403266MATN3c.790+153G>A (n.790+153G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005592G>ACA530853124MATN3c.790+152C>T (n.790+152C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005592G=CA2493007741MATN3c.790+152C= (n.790+152C=)
2g.20005593C>ACA2658010796MATN3c.790+151G>T (n.790+151G>T)
gnomAD v4
2g.20005593C=CA2493007742MATN3c.790+151G= (n.790+151G=)
2g.20005593C>TCA43403267MATN3c.790+151G>A (n.790+151G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005594G>ACA43403269MATN3c.790+150C>T (n.790+150C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005594G=CA2493007743MATN3c.790+150C= (n.790+150C=)
2g.20005594G>TCA2658010797MATN3c.790+150C>A (n.790+150C>A)
dbSNP gnomAD v4
2g.20005595C>ACA2658010798MATN3c.790+149G>T (n.790+149G>T)
gnomAD v4
2g.20005595C=CA2493007745MATN3c.790+149G= (n.790+149G=)
2g.20005595C>GCA2658010799MATN3c.790+149G>C (n.790+149G>C)
gnomAD v4
2g.20005595C>TCA2493007746MATN3c.790+149G>A (n.790+149G>A)
dbSNP gnomAD v3 gnomAD v4
2g.20005595_20005596delinsCACA2493007744MATN3c.790+148_790+149delinsTG (n.790+148_790+149delinsTG)
2g.20005596delCA530853125MATN3c.790+148del (n.790+148del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005596A=CA2493007747MATN3c.790+148T= (n.790+148T=)
2g.20005596A>GCA2493007748MATN3c.790+148T>C (n.790+148T>C)
dbSNP gnomAD v4
2g.20005597T>CCA2658010800MATN3c.790+147A>G (n.790+147A>G)
gnomAD v4
2g.20005597T>GCA2658010801MATN3c.790+147A>C (n.790+147A>C)
gnomAD v4
2g.20005598G>ACA2658010802MATN3c.790+146C>T (n.790+146C>T)
gnomAD v4
2g.20005598G>TCA2658010803MATN3c.790+146C>A (n.790+146C>A)
gnomAD v4
2g.20005599C>ACA2658010804MATN3c.790+145G>T (n.790+145G>T)
gnomAD v4
2g.20005599C>TCA2658010805MATN3c.790+145G>A (n.790+145G>A)
gnomAD v4
2g.20005601C>GCA2658010806MATN3c.790+143G>C (n.790+143G>C)
gnomAD v4
2g.20005603C=CA2493007749MATN3c.790+141G= (n.790+141G=)
2g.20005603C>TCA43403271MATN3c.790+141G>A (n.790+141G>A)
dbSNP gnomAD v3 gnomAD v4
2g.20005604_20005607delCA2658010807MATN3c.790+138_790+141del (n.790+138_790+141del)
gnomAD v4
2g.20005604G>ACA43403276MATN3c.790+140C>T (n.790+140C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005604G>CCA530853126MATN3c.790+140C>G (n.790+140C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005604G=CA2493007750MATN3c.790+140C= (n.790+140C=)
2g.20005604G>TCA43403279MATN3c.790+140C>A (n.790+140C>A)
dbSNP gnomAD v4
2g.20005605T>CCA43403283MATN3c.790+139A>G (n.790+139A>G)
dbSNP gnomAD v4
2g.20005605T=CA2493007751MATN3c.790+139A= (n.790+139A=)
2g.20005606G>ACA2658010809MATN3c.790+138C>T (n.790+138C>T)
gnomAD v4
2g.20005606G>TCA2658010810MATN3c.790+138C>A (n.790+138C>A)
gnomAD v4
2g.20005606_20005607delCA2658010808MATN3c.790+137_790+138del (n.790+137_790+138del)
gnomAD v4
2g.20005606_20005610delinsGCACACA2493007752MATN3c.790+134_790+138delinsTGTGC (n.790+134_790+138delinsTGTGC)
2g.20005607C>ACA2658010812MATN3c.790+137G>T (n.790+137G>T)
gnomAD v4
2g.20005607C>TCA2658010811MATN3c.790+137G>A (n.790+137G>A)
gnomAD v4
2g.20005618_20005619dupCA530853127MATN3c.790+136_790+137dup (n.790+136_790+137dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005616_20005619dupCA1028161300MATN3c.790+134_790+137dup (n.790+134_790+137dup)
dbSNP gnomAD v3 gnomAD v4
2g.20005614_20005619dupCA530853128MATN3c.790+132_790+137dup (n.790+132_790+137dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005618_20005619delCA43403288MATN3c.790+136_790+137del (n.790+136_790+137del)
dbSNP gnomAD v3 gnomAD v4
2g.20005616_20005619delCA763243804MATN3c.790+134_790+137del (n.790+134_790+137del)
dbSNP gnomAD v3 gnomAD v4
2g.20005608A>GCA2658010813MATN3c.790+136T>C (n.790+136T>C)
gnomAD v4
2g.20005609C>TCA2658010814MATN3c.790+135G>A (n.790+135G>A)
gnomAD v4
2g.20005610A=CA2493007753MATN3c.790+134T= (n.790+134T=)
2g.20005610A>GCA43403292MATN3c.790+134T>C (n.790+134T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005611C>ACA2658010815MATN3c.790+133G>T (n.790+133G>T)
gnomAD v4
2g.20005613C>ACA2658010816MATN3c.790+131G>T (n.790+131G>T)
gnomAD v4
2g.20005613C=CA2493007754MATN3c.790+131G= (n.790+131G=)
2g.20005613C>TCA43403299MATN3c.790+131G>A (n.790+131G>A)
dbSNP gnomAD v4
2g.20005614A>CCA2749074455MATN3c.790+130T>G (n.790+130T>G)
2g.20005614A>GCA2658010817MATN3c.790+130T>C (n.790+130T>C)
gnomAD v4
2g.20005615C>ACA2658010818MATN3c.790+129G>T (n.790+129G>T)
gnomAD v4
2g.20005615C>TCA2698864543MATN3c.790+129G>A (n.790+129G>A)
dbSNP
2g.20005618A=CA2493007755MATN3c.790+126T= (n.790+126T=)
2g.20005618A>GCA763243812MATN3c.790+126T>C (n.790+126T>C)
dbSNP gnomAD v3 gnomAD v4
2g.20005619C>ACA1028161308MATN3c.790+125G>T (n.790+125G>T)
dbSNP gnomAD v3 gnomAD v4
2g.20005619C=CA2493007756MATN3c.790+125G= (n.790+125G=)
2g.20005619C>TCA43403305MATN3c.790+125G>A (n.790+125G>A)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.20005620_20005621delCA2658010819MATN3c.790+124_790+125del (n.790+124_790+125del)
gnomAD v4
2g.20005619_20005620insATCA2658010820MATN3c.790+124_790+125insAT (n.790+124_790+125insAT)
gnomAD v4
2g.20005620G>ACA43403311MATN3c.790+124C>T (n.790+124C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005620G=CA2493007757MATN3c.790+124C= (n.790+124C=)
2g.20005620G>TCA2658010821MATN3c.790+124C>A (n.790+124C>A)
gnomAD v4
2g.20005621C>ACA2658010822MATN3c.790+123G>T (n.790+123G>T)
gnomAD v4
2g.20005622A=CA2493007758MATN3c.790+122T= (n.790+122T=)
2g.20005622A>GCA763243816MATN3c.790+122T>C (n.790+122T>C)
dbSNP gnomAD v4
2g.20005623T>CCA1028161319MATN3c.790+121A>G (n.790+121A>G)
dbSNP gnomAD v3 gnomAD v4
2g.20005623T>GCA2658010823MATN3c.790+121A>C (n.790+121A>C)
gnomAD v4
2g.20005623T=CA2493007759MATN3c.790+121A= (n.790+121A=)
2g.20005625G>TCA2658010824MATN3c.790+119C>A (n.790+119C>A)
gnomAD v4
2g.20005626G>ACA2658010825MATN3c.790+118C>T (n.790+118C>T)
gnomAD v4
2g.20005626G>TCA2658010826MATN3c.790+118C>A (n.790+118C>A)
gnomAD v4
2g.20005629A>CCA2658010827MATN3c.790+115T>G (n.790+115T>G)
gnomAD v4
2g.20005629A>TCA2658010828MATN3c.790+115T>A (n.790+115T>A)
gnomAD v4
2g.20005630T>GCA2658010829MATN3c.790+114A>C (n.790+114A>C)
gnomAD v4
2g.20005631A>GCA2658010830MATN3c.790+113T>C (n.790+113T>C)
gnomAD v4
2g.20005631_20005637delinsATTTAAGCA2493007760MATN3c.790+107_790+113delinsCTTAAAT (n.790+107_790+113delinsCTTAAAT)
2g.20005632T>GCA2658010831MATN3c.790+112A>C (n.790+112A>C)
gnomAD v4
2g.20005634dupCA2658010832MATN3c.790+112dup (n.790+112dup)
gnomAD v4
2g.20005635_20005640delCA1028161320MATN3c.790+107_790+112del (n.790+107_790+112del)
dbSNP gnomAD v3 gnomAD v4
2g.20005633T>GCA43403316MATN3c.790+111A>C (n.790+111A>C)
dbSNP gnomAD v3 gnomAD v4
2g.20005633T=CA2493007762MATN3c.790+111A= (n.790+111A=)
2g.20005633_20005637delinsTTAAGCA2493007761MATN3c.790+107_790+111delinsCTTAA (n.790+107_790+111delinsCTTAA)
2g.20005635_20005638delCA530853129MATN3c.790+107_790+110del (n.790+107_790+110del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005635A>TCA2658010833MATN3c.790+109T>A (n.790+109T>A)
gnomAD v4
2g.20005637G>CCA2749074456MATN3c.790+107C>G (n.790+107C>G)
2g.20005637G>TCA2658010834MATN3c.790+107C>A (n.790+107C>A)
gnomAD v4
2g.20005638T>ACA2658010836MATN3c.790+106A>T (n.790+106A>T)
gnomAD v4
2g.20005642delCA2658010835MATN3c.790+106del (n.790+106del)
gnomAD v4
2g.20005639T>ACA2658010837MATN3c.790+105A>T (n.790+105A>T)
gnomAD v4
2g.20005640T>CCA2658010838MATN3c.790+104A>G (n.790+104A>G)
gnomAD v4
2g.20005640T>GCA2658010839MATN3c.790+104A>C (n.790+104A>C)
gnomAD v4
2g.20005641T>CCA2658010840MATN3c.790+103A>G (n.790+103A>G)
gnomAD v4
2g.20005641T>GCA2658010841MATN3c.790+103A>C (n.790+103A>C)
gnomAD v4
2g.20005643C>ACA2658010842MATN3c.790+101G>T (n.790+101G>T)
gnomAD v4
2g.20005643C=CA2493007763MATN3c.790+101G= (n.790+101G=)
2g.20005643C>TCA43403317MATN3c.790+101G>A (n.790+101G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005644A>GCA2658010843MATN3c.790+100T>C (n.790+100T>C)
gnomAD v4
2g.20005644A>TCA2658010844MATN3c.790+100T>A (n.790+100T>A)
gnomAD v4
2g.20005645T>GCA2658010845MATN3c.790+99A>C (n.790+99A>C)
gnomAD v4
2g.20005646T>CCA2658010846MATN3c.790+98A>G (n.790+98A>G)
gnomAD v4
2g.20005647A>CCA2658010847MATN3c.790+97T>G (n.790+97T>G)
gnomAD v4
2g.20005647A>TCA2576684673MATN3c.790+97T>A (n.790+97T>A)
gnomAD v4
2g.20005648A=CA2493007764MATN3c.790+96T= (n.790+96T=)
2g.20005648A>CCA1028161325MATN3c.790+96T>G (n.790+96T>G)
dbSNP gnomAD v3 gnomAD v4
2g.20005648A>GCA2658010848MATN3c.790+96T>C (n.790+96T>C)
gnomAD v4
2g.20005649A>GCA2658010849MATN3c.790+95T>C (n.790+95T>C)
gnomAD v4
2g.20005650T>ACA2658010850MATN3c.790+94A>T (n.790+94A>T)
gnomAD v4
2g.20005650_20005657delCA1028161328MATN3c.790+87_790+94del (n.790+87_790+94del)
gnomAD v3 gnomAD v4
2g.20005651T>ACA2658010851MATN3c.790+93A>T (n.790+93A>T)
gnomAD v4
2g.20005651T>CCA2658010852MATN3c.790+93A>G (n.790+93A>G)
gnomAD v4
2g.20005651T>GCA763243820MATN3c.790+93A>C (n.790+93A>C)
dbSNP gnomAD v3 gnomAD v4
2g.20005651T=CA2493007765MATN3c.790+93A= (n.790+93A=)
2g.20005652T>CCA2658010853MATN3c.790+92A>G (n.790+92A>G)
gnomAD v4
2g.20005652T=CA2493007766MATN3c.790+92A= (n.790+92A=)
2g.20005653C>ACA2658010855MATN3c.790+91G>T (n.790+91G>T)
gnomAD v4
2g.20005653C=CA2493007767MATN3c.790+91G= (n.790+91G=)
2g.20005653C>GCA2493007768MATN3c.790+91G>C (n.790+91G>C)
dbSNP
2g.20005653C>TCA2658010854MATN3c.790+91G>A (n.790+91G>A)
gnomAD v4
2g.20005656_20005658dupCA763243822MATN3c.790+89_790+91dup (n.790+89_790+91dup)
dbSNP gnomAD v4
2g.20005654C>ACA2658010856MATN3c.790+90G>T (n.790+90G>T)
gnomAD v4
2g.20005654C>TCA2658010857MATN3c.790+90G>A (n.790+90G>A)
gnomAD v4
2g.20005655A>CCA2658010858MATN3c.790+89T>G (n.790+89T>G)
gnomAD v4
2g.20005655A>TCA2658010859MATN3c.790+89T>A (n.790+89T>A)
gnomAD v4
2g.20005656C>ACA2658010862MATN3c.790+88G>T (n.790+88G>T)
gnomAD v4
2g.20005656C>TCA2658010861MATN3c.790+88G>A (n.790+88G>A)
gnomAD v4
2g.20005657dupCA2658010860MATN3c.790+88dup (n.790+88dup)
gnomAD v4
2g.20005657C>ACA2658010863MATN3c.790+87G>T (n.790+87G>T)
gnomAD v4
2g.20005657C=CA2493007769MATN3c.790+87G= (n.790+87G=)
2g.20005657C>GCA2658010864MATN3c.790+87G>C (n.790+87G>C)
gnomAD v4
2g.20005657C>TCA1028161335MATN3c.790+87G>A (n.790+87G>A)
dbSNP gnomAD v3 gnomAD v4
2g.20005658A=CA2493007772MATN3c.790+86T= (n.790+86T=)
2g.20005659_20005660insGAAACA2493007770MATN3c.790+86_790+87insTCTT (n.790+86_790+87insTCTT)
dbSNP
2g.20005660_20005661insGAAACA2493007771MATN3c.790+86_790+87insCTTT (n.790+86_790+87insCTTT)
dbSNP
2g.20005663_20005664insAAAAAAAACA1028161338MATN3c.790+86_790+87insTTTTTTTT (n.790+86_790+87insTTTTTTTT)
gnomAD v3 gnomAD v4
2g.20005663dupCA530853130MATN3c.790+86dup (n.790+86dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005662_20005663dupCA43403323MATN3c.790+85_790+86dup (n.790+85_790+86dup)
dbSNP gnomAD v4
2g.20005663delCA2658010865MATN3c.790+86del (n.790+86del)
gnomAD v4
2g.20005658_20005659insCCA2658010866MATN3c.790+85_790+86insG (n.790+85_790+86insG)
gnomAD v4
2g.20005658_20005659insGCA2538749069MATN3c.790+85_790+86insC (n.790+85_790+86insC)
dbSNP gnomAD v4
2g.20005659A=CA2493007773MATN3c.790+85T= (n.790+85T=)
2g.20005659A>GCA2658010867MATN3c.790+85T>C (n.790+85T>C)
gnomAD v4
2g.20005661_20005662insGAAACA763243827MATN3c.790+85_790+86insCTTT (n.790+85_790+86insCTTT)
dbSNP
2g.20005659_20005660insGCA2658010868MATN3c.790+84_790+85insC (n.790+84_790+85insC)
gnomAD v4
2g.20005660A=CA2493007774MATN3c.790+84T= (n.790+84T=)
2g.20005660A>GCA763243828MATN3c.790+84T>C (n.790+84T>C)
dbSNP gnomAD v4
2g.20005662_20005663insGAAACA43403324MATN3c.790+84_790+85insCTTT (n.790+84_790+85insCTTT)
dbSNP
2g.20005660_20005661insCCA2658010869MATN3c.790+83_790+84insG (n.790+83_790+84insG)
gnomAD v4
2g.20005661A=CA2493007775MATN3c.790+83T= (n.790+83T=)
2g.20005661_20005662insGCA2519411538MATN3c.790+82_790+83insC (n.790+82_790+83insC)
2g.20005661_20005662insTCA2493007777MATN3c.790+82_790+83insA (n.790+82_790+83insA)
dbSNP gnomAD v4
2g.20005662A=CA2493007776MATN3c.790+82T= (n.790+82T=)
2g.20005662A>GCA43403329MATN3c.790+82T>C (n.790+82T>C)
dbSNP gnomAD v4
2g.20005662_20005663insGCA2576684675MATN3c.790+81_790+82insC (n.790+81_790+82insC)
2g.20005663A=CA2493007778MATN3c.790+81T= (n.790+81T=)
2g.20005663_20005664insACACA2576684677MATN3c.790+81_790+82insGTT (n.790+81_790+82insGTT)
2g.20005663_20005664insAGACA916486919MATN3c.790+81_790+82insCTT (n.790+81_790+82insCTT)
dbSNP gnomAD v3 gnomAD v4
2g.20005663_20005664insAAGACA43403341MATN3c.790+81_790+82insCTTT (n.790+81_790+82insCTTT)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.20005663_20005664insAATACA2576684678MATN3c.790+81_790+82insATTT (n.790+81_790+82insATTT)
dbSNP gnomAD v4
2g.20005663_20005664insAGGACA2658010872MATN3c.790+81_790+82insCCTT (n.790+81_790+82insCCTT)
gnomAD v4
2g.20005663_20005664insATGACA2658010871MATN3c.790+81_790+82insCATT (n.790+81_790+82insCATT)
gnomAD v4
2g.20005663_20005664insTAGACA2576684676MATN3c.790+81_790+82insCTAT (n.790+81_790+82insCTAT)
2g.20005663_20005664insAAAGACA1028161341MATN3c.790+81_790+82insCTTTT (n.790+81_790+82insCTTTT)
dbSNP gnomAD v3 gnomAD v4
2g.20005663_20005664insAAAAGACA2658010873MATN3c.790+81_790+82insCTTTTT (n.790+81_790+82insCTTTTT)
gnomAD v4
2g.20005663_20005664insAAAAAAAGACA1028161339MATN3c.790+81_790+82insCTTTTTTTT (n.790+81_790+82insCTTTTTTTT)
gnomAD v3 gnomAD v4
2g.20005663_20005664insAATCACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAAAGACA1028161343MATN3c.790+81_790+82insCTTTTTTTTGGTGGAAATTTAATGAAAAACTTAAATATATCCAATGCGTGTGTGTGATTT (n.790+81_790+82insCTTTTTTTTGGTGGAAATTTAATGAAAAACTTAAATATATCCAATGCGTGTGTGTGATTT)
gnomAD v3 gnomAD v4
2g.20005665_20005666insGAGACA2658010870MATN3c.790+81_790+82insCTCT (n.790+81_790+82insCTCT)
gnomAD v4
2g.20005664_20005665dupCA2576684674MATN3c.790+80_790+81dup (n.790+80_790+81dup)
gnomAD v4
2g.20005663_20005664insAAAGCA43403362MATN3c.790+80_790+81insCTTT (n.790+80_790+81insCTTT)
dbSNP
2g.20005663_20005664insAAGGCA2493007779MATN3c.790+80_790+81insCCTT (n.790+80_790+81insCCTT)
dbSNP gnomAD v4
2g.20005663_20005664insAAGTCA2698806315MATN3c.790+80_790+81insACTT (n.790+80_790+81insACTT)
dbSNP
2g.20005664G>ACA2493007781MATN3c.790+80C>T (n.790+80C>T)
dbSNP
2g.20005664G=CA2493007780MATN3c.790+80C= (n.790+80C=)
2g.20005664G>TCA2576684679MATN3c.790+80C>A (n.790+80C>A)
2g.20005665_20005666insTACA2658010874MATN3c.790+79_790+80insAT (n.790+79_790+80insAT)
gnomAD v4
2g.20005666_20005667insGAAACA43403371MATN3c.790+79_790+80insTCTT (n.790+79_790+80insTCTT)
dbSNP
2g.20005665_20005666insGCCA2658010875MATN3c.790+78_790+79insGC (n.790+78_790+79insGC)
gnomAD v4
2g.20005666A>CCA2658010876MATN3c.790+78T>G (n.790+78T>G)
gnomAD v4
2g.20005666A>GCA2576684680MATN3c.790+78T>C (n.790+78T>C)
2g.20005666A>TCA2658010877MATN3c.790+78T>A (n.790+78T>A)
gnomAD v4
2g.20005667T>ACA2658010878MATN3c.790+77A>T (n.790+77A>T)
gnomAD v4
2g.20005667T>GCA2658010879MATN3c.790+77A>C (n.790+77A>C)
gnomAD v4
2g.20005669A=CA2493007782MATN3c.790+75T= (n.790+75T=)
2g.20005669A>CCA43403378MATN3c.790+75T>G (n.790+75T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20005669A>GCA1028161355MATN3c.790+75T>C (n.790+75T>C)
dbSNP gnomAD v3 gnomAD v4
2g.20005670T>ACA43403381MATN3c.790+74A>T (n.790+74A>T)
dbSNP gnomAD v3 gnomAD v4
2g.20005670T>CCA2493007784MATN3c.790+74A>G (n.790+74A>G)
dbSNP
2g.20005670T=CA2493007783MATN3c.790+74A= (n.790+74A=)
2g.20005671A=CA2493007785MATN3c.790+73T= (n.790+73T=)
2g.20005671A>CCA2658010880MATN3c.790+73T>G (n.790+73T>G)
gnomAD v4
2g.20005671A>TCA43403389MATN3c.790+73T>A (n.790+73T>A)
dbSNP gnomAD v3 gnomAD v4
2g.20005672C>ACA2658010881MATN3c.790+72G>T (n.790+72G>T)
gnomAD v4
2g.20005672C>TCA2548268658MATN3c.790+72G>A (n.790+72G>A)
gnomAD v4
2g.20005673T>ACA2658010882MATN3c.790+71A>T (n.790+71A>T)
gnomAD v4
2g.20005673T>CCA2749074457MATN3c.790+71A>G (n.790+71A>G)
2g.20005674C>ACA2658010883MATN3c.790+70G>T (n.790+70G>T)
gnomAD v4
2g.20005674C>GCA2576684681MATN3c.790+70G>C (n.790+70G>C)
2g.20005674_20005676delinsCTTCA2493007786MATN3c.790+68_790+70delinsAAG (n.790+68_790+70delinsAAG)

Number of alleles fetched