Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.19999538_20008463dup | CA2580611595 | MATN3 | c.224-2153_1168+903dup c.224-2153_1042+903dup | |
2 | g.20005575G>A | CA2493007726 | MATN3 | c.790+169C>T (n.790+169C>T) | dbSNP |
2 | g.20005575G= | CA2493007725 | MATN3 | c.790+169C= (n.790+169C=) | |
2 | g.20005580_20005606delinsTCGCACACACGCGCGCATGCACACGTG | CA2493007727 | MATN3 | c.790+138_790+164delinsCACGTGTGCATGCGCGCGTGTGTGCGA (n.790+138_790+164delinsCACGTGTGCATGCGCGCGTGTGTGCGA) | |
2 | g.20005581C= | CA2493007728 | MATN3 | c.790+163G= (n.790+163G=) | |
2 | g.20005581C>T | CA43403254 | MATN3 | c.790+163G>A (n.790+163G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005582_20005607del | CA530853122 | MATN3 | c.790+138_790+163del (n.790+138_790+163del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005582G>A | CA43403256 | MATN3 | c.790+162C>T (n.790+162C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005582G= | CA2493007729 | MATN3 | c.790+162C= (n.790+162C=) | |
2 | g.20005582_20005584delinsGCA | CA2493007730 | MATN3 | c.790+160_790+162delinsTGC (n.790+160_790+162delinsTGC) | |
2 | g.20005588_20005589del | CA763243777 | MATN3 | c.790+160_790+161del (n.790+160_790+161del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005583_20005597delinsCACACACGCGCGCAT | CA2493007731 | MATN3 | c.790+147_790+161delinsATGCGCGCGTGTGTG (n.790+147_790+161delinsATGCGCGCGTGTGTG) | |
2 | g.20005584A= | CA2493007732 | MATN3 | c.790+160T= (n.790+160T=) | |
2 | g.20005584A>T | CA2493007733 | MATN3 | c.790+160T>A (n.790+160T>A) | dbSNP |
2 | g.20005584_20005597del | CA530853123 | MATN3 | c.790+147_790+160del (n.790+147_790+160del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005585C= | CA2493007734 | MATN3 | c.790+159G= (n.790+159G=) | |
2 | g.20005585C>T | CA763243779 | MATN3 | c.790+159G>A (n.790+159G>A) | dbSNP |
2 | g.20005588A= | CA2493007735 | MATN3 | c.790+156T= (n.790+156T=) | |
2 | g.20005588A>G | CA763243780 | MATN3 | c.790+156T>C (n.790+156T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005588_20005590delinsACG | CA2493007736 | MATN3 | c.790+154_790+156delinsCGT (n.790+154_790+156delinsCGT) | |
2 | g.20005589C= | CA2493007738 | MATN3 | c.790+155G= (n.790+155G=) | |
2 | g.20005589C>T | CA43403261 | MATN3 | c.790+155G>A (n.790+155G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005594_20005595del | CA2493007737 | MATN3 | c.790+154_790+155del (n.790+154_790+155del) | dbSNP |
2 | g.20005590G>A | CA43403265 | MATN3 | c.790+154C>T (n.790+154C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005590G= | CA2493007739 | MATN3 | c.790+154C= (n.790+154C=) | |
2 | g.20005591C>A | CA763243787 | MATN3 | c.790+153G>T (n.790+153G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005591C= | CA2493007740 | MATN3 | c.790+153G= (n.790+153G=) | |
2 | g.20005591C>T | CA43403266 | MATN3 | c.790+153G>A (n.790+153G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005592G>A | CA530853124 | MATN3 | c.790+152C>T (n.790+152C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005592G= | CA2493007741 | MATN3 | c.790+152C= (n.790+152C=) | |
2 | g.20005593C>A | CA2658010796 | MATN3 | c.790+151G>T (n.790+151G>T) | gnomAD v4 |
2 | g.20005593C= | CA2493007742 | MATN3 | c.790+151G= (n.790+151G=) | |
2 | g.20005593C>T | CA43403267 | MATN3 | c.790+151G>A (n.790+151G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005594G>A | CA43403269 | MATN3 | c.790+150C>T (n.790+150C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005594G= | CA2493007743 | MATN3 | c.790+150C= (n.790+150C=) | |
2 | g.20005594G>T | CA2658010797 | MATN3 | c.790+150C>A (n.790+150C>A) | dbSNP gnomAD v4 |
2 | g.20005595C>A | CA2658010798 | MATN3 | c.790+149G>T (n.790+149G>T) | gnomAD v4 |
2 | g.20005595C= | CA2493007745 | MATN3 | c.790+149G= (n.790+149G=) | |
2 | g.20005595C>G | CA2658010799 | MATN3 | c.790+149G>C (n.790+149G>C) | gnomAD v4 |
2 | g.20005595C>T | CA2493007746 | MATN3 | c.790+149G>A (n.790+149G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005595_20005596delinsCA | CA2493007744 | MATN3 | c.790+148_790+149delinsTG (n.790+148_790+149delinsTG) | |
2 | g.20005596del | CA530853125 | MATN3 | c.790+148del (n.790+148del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005596A= | CA2493007747 | MATN3 | c.790+148T= (n.790+148T=) | |
2 | g.20005596A>G | CA2493007748 | MATN3 | c.790+148T>C (n.790+148T>C) | dbSNP gnomAD v4 |
2 | g.20005597T>C | CA2658010800 | MATN3 | c.790+147A>G (n.790+147A>G) | gnomAD v4 |
2 | g.20005597T>G | CA2658010801 | MATN3 | c.790+147A>C (n.790+147A>C) | gnomAD v4 |
2 | g.20005598G>A | CA2658010802 | MATN3 | c.790+146C>T (n.790+146C>T) | gnomAD v4 |
2 | g.20005598G>T | CA2658010803 | MATN3 | c.790+146C>A (n.790+146C>A) | gnomAD v4 |
2 | g.20005599C>A | CA2658010804 | MATN3 | c.790+145G>T (n.790+145G>T) | gnomAD v4 |
2 | g.20005599C>T | CA2658010805 | MATN3 | c.790+145G>A (n.790+145G>A) | gnomAD v4 |
2 | g.20005601C>G | CA2658010806 | MATN3 | c.790+143G>C (n.790+143G>C) | gnomAD v4 |
2 | g.20005603C= | CA2493007749 | MATN3 | c.790+141G= (n.790+141G=) | |
2 | g.20005603C>T | CA43403271 | MATN3 | c.790+141G>A (n.790+141G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005604_20005607del | CA2658010807 | MATN3 | c.790+138_790+141del (n.790+138_790+141del) | gnomAD v4 |
2 | g.20005604G>A | CA43403276 | MATN3 | c.790+140C>T (n.790+140C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005604G>C | CA530853126 | MATN3 | c.790+140C>G (n.790+140C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005604G= | CA2493007750 | MATN3 | c.790+140C= (n.790+140C=) | |
2 | g.20005604G>T | CA43403279 | MATN3 | c.790+140C>A (n.790+140C>A) | dbSNP gnomAD v4 |
2 | g.20005605T>C | CA43403283 | MATN3 | c.790+139A>G (n.790+139A>G) | dbSNP gnomAD v4 |
2 | g.20005605T= | CA2493007751 | MATN3 | c.790+139A= (n.790+139A=) | |
2 | g.20005606G>A | CA2658010809 | MATN3 | c.790+138C>T (n.790+138C>T) | gnomAD v4 |
2 | g.20005606G>T | CA2658010810 | MATN3 | c.790+138C>A (n.790+138C>A) | gnomAD v4 |
2 | g.20005606_20005607del | CA2658010808 | MATN3 | c.790+137_790+138del (n.790+137_790+138del) | gnomAD v4 |
2 | g.20005606_20005610delinsGCACA | CA2493007752 | MATN3 | c.790+134_790+138delinsTGTGC (n.790+134_790+138delinsTGTGC) | |
2 | g.20005607C>A | CA2658010812 | MATN3 | c.790+137G>T (n.790+137G>T) | gnomAD v4 |
2 | g.20005607C>T | CA2658010811 | MATN3 | c.790+137G>A (n.790+137G>A) | gnomAD v4 |
2 | g.20005618_20005619dup | CA530853127 | MATN3 | c.790+136_790+137dup (n.790+136_790+137dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005616_20005619dup | CA1028161300 | MATN3 | c.790+134_790+137dup (n.790+134_790+137dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005614_20005619dup | CA530853128 | MATN3 | c.790+132_790+137dup (n.790+132_790+137dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005618_20005619del | CA43403288 | MATN3 | c.790+136_790+137del (n.790+136_790+137del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005616_20005619del | CA763243804 | MATN3 | c.790+134_790+137del (n.790+134_790+137del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005608A>G | CA2658010813 | MATN3 | c.790+136T>C (n.790+136T>C) | gnomAD v4 |
2 | g.20005609C>T | CA2658010814 | MATN3 | c.790+135G>A (n.790+135G>A) | gnomAD v4 |
2 | g.20005610A= | CA2493007753 | MATN3 | c.790+134T= (n.790+134T=) | |
2 | g.20005610A>G | CA43403292 | MATN3 | c.790+134T>C (n.790+134T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005611C>A | CA2658010815 | MATN3 | c.790+133G>T (n.790+133G>T) | gnomAD v4 |
2 | g.20005613C>A | CA2658010816 | MATN3 | c.790+131G>T (n.790+131G>T) | gnomAD v4 |
2 | g.20005613C= | CA2493007754 | MATN3 | c.790+131G= (n.790+131G=) | |
2 | g.20005613C>T | CA43403299 | MATN3 | c.790+131G>A (n.790+131G>A) | dbSNP gnomAD v4 |
2 | g.20005614A>C | CA2749074455 | MATN3 | c.790+130T>G (n.790+130T>G) | |
2 | g.20005614A>G | CA2658010817 | MATN3 | c.790+130T>C (n.790+130T>C) | gnomAD v4 |
2 | g.20005615C>A | CA2658010818 | MATN3 | c.790+129G>T (n.790+129G>T) | gnomAD v4 |
2 | g.20005615C>T | CA2698864543 | MATN3 | c.790+129G>A (n.790+129G>A) | dbSNP |
2 | g.20005618A= | CA2493007755 | MATN3 | c.790+126T= (n.790+126T=) | |
2 | g.20005618A>G | CA763243812 | MATN3 | c.790+126T>C (n.790+126T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005619C>A | CA1028161308 | MATN3 | c.790+125G>T (n.790+125G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005619C= | CA2493007756 | MATN3 | c.790+125G= (n.790+125G=) | |
2 | g.20005619C>T | CA43403305 | MATN3 | c.790+125G>A (n.790+125G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.20005620_20005621del | CA2658010819 | MATN3 | c.790+124_790+125del (n.790+124_790+125del) | gnomAD v4 |
2 | g.20005619_20005620insAT | CA2658010820 | MATN3 | c.790+124_790+125insAT (n.790+124_790+125insAT) | gnomAD v4 |
2 | g.20005620G>A | CA43403311 | MATN3 | c.790+124C>T (n.790+124C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005620G= | CA2493007757 | MATN3 | c.790+124C= (n.790+124C=) | |
2 | g.20005620G>T | CA2658010821 | MATN3 | c.790+124C>A (n.790+124C>A) | gnomAD v4 |
2 | g.20005621C>A | CA2658010822 | MATN3 | c.790+123G>T (n.790+123G>T) | gnomAD v4 |
2 | g.20005622A= | CA2493007758 | MATN3 | c.790+122T= (n.790+122T=) | |
2 | g.20005622A>G | CA763243816 | MATN3 | c.790+122T>C (n.790+122T>C) | dbSNP gnomAD v4 |
2 | g.20005623T>C | CA1028161319 | MATN3 | c.790+121A>G (n.790+121A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005623T>G | CA2658010823 | MATN3 | c.790+121A>C (n.790+121A>C) | gnomAD v4 |
2 | g.20005623T= | CA2493007759 | MATN3 | c.790+121A= (n.790+121A=) | |
2 | g.20005625G>T | CA2658010824 | MATN3 | c.790+119C>A (n.790+119C>A) | gnomAD v4 |
2 | g.20005626G>A | CA2658010825 | MATN3 | c.790+118C>T (n.790+118C>T) | gnomAD v4 |
2 | g.20005626G>T | CA2658010826 | MATN3 | c.790+118C>A (n.790+118C>A) | gnomAD v4 |
2 | g.20005629A>C | CA2658010827 | MATN3 | c.790+115T>G (n.790+115T>G) | gnomAD v4 |
2 | g.20005629A>T | CA2658010828 | MATN3 | c.790+115T>A (n.790+115T>A) | gnomAD v4 |
2 | g.20005630T>G | CA2658010829 | MATN3 | c.790+114A>C (n.790+114A>C) | gnomAD v4 |
2 | g.20005631A>G | CA2658010830 | MATN3 | c.790+113T>C (n.790+113T>C) | gnomAD v4 |
2 | g.20005631_20005637delinsATTTAAG | CA2493007760 | MATN3 | c.790+107_790+113delinsCTTAAAT (n.790+107_790+113delinsCTTAAAT) | |
2 | g.20005632T>G | CA2658010831 | MATN3 | c.790+112A>C (n.790+112A>C) | gnomAD v4 |
2 | g.20005634dup | CA2658010832 | MATN3 | c.790+112dup (n.790+112dup) | gnomAD v4 |
2 | g.20005635_20005640del | CA1028161320 | MATN3 | c.790+107_790+112del (n.790+107_790+112del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005633T>G | CA43403316 | MATN3 | c.790+111A>C (n.790+111A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005633T= | CA2493007762 | MATN3 | c.790+111A= (n.790+111A=) | |
2 | g.20005633_20005637delinsTTAAG | CA2493007761 | MATN3 | c.790+107_790+111delinsCTTAA (n.790+107_790+111delinsCTTAA) | |
2 | g.20005635_20005638del | CA530853129 | MATN3 | c.790+107_790+110del (n.790+107_790+110del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005635A>T | CA2658010833 | MATN3 | c.790+109T>A (n.790+109T>A) | gnomAD v4 |
2 | g.20005637G>C | CA2749074456 | MATN3 | c.790+107C>G (n.790+107C>G) | |
2 | g.20005637G>T | CA2658010834 | MATN3 | c.790+107C>A (n.790+107C>A) | gnomAD v4 |
2 | g.20005638T>A | CA2658010836 | MATN3 | c.790+106A>T (n.790+106A>T) | gnomAD v4 |
2 | g.20005642del | CA2658010835 | MATN3 | c.790+106del (n.790+106del) | gnomAD v4 |
2 | g.20005639T>A | CA2658010837 | MATN3 | c.790+105A>T (n.790+105A>T) | gnomAD v4 |
2 | g.20005640T>C | CA2658010838 | MATN3 | c.790+104A>G (n.790+104A>G) | gnomAD v4 |
2 | g.20005640T>G | CA2658010839 | MATN3 | c.790+104A>C (n.790+104A>C) | gnomAD v4 |
2 | g.20005641T>C | CA2658010840 | MATN3 | c.790+103A>G (n.790+103A>G) | gnomAD v4 |
2 | g.20005641T>G | CA2658010841 | MATN3 | c.790+103A>C (n.790+103A>C) | gnomAD v4 |
2 | g.20005643C>A | CA2658010842 | MATN3 | c.790+101G>T (n.790+101G>T) | gnomAD v4 |
2 | g.20005643C= | CA2493007763 | MATN3 | c.790+101G= (n.790+101G=) | |
2 | g.20005643C>T | CA43403317 | MATN3 | c.790+101G>A (n.790+101G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005644A>G | CA2658010843 | MATN3 | c.790+100T>C (n.790+100T>C) | gnomAD v4 |
2 | g.20005644A>T | CA2658010844 | MATN3 | c.790+100T>A (n.790+100T>A) | gnomAD v4 |
2 | g.20005645T>G | CA2658010845 | MATN3 | c.790+99A>C (n.790+99A>C) | gnomAD v4 |
2 | g.20005646T>C | CA2658010846 | MATN3 | c.790+98A>G (n.790+98A>G) | gnomAD v4 |
2 | g.20005647A>C | CA2658010847 | MATN3 | c.790+97T>G (n.790+97T>G) | gnomAD v4 |
2 | g.20005647A>T | CA2576684673 | MATN3 | c.790+97T>A (n.790+97T>A) | gnomAD v4 |
2 | g.20005648A= | CA2493007764 | MATN3 | c.790+96T= (n.790+96T=) | |
2 | g.20005648A>C | CA1028161325 | MATN3 | c.790+96T>G (n.790+96T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005648A>G | CA2658010848 | MATN3 | c.790+96T>C (n.790+96T>C) | gnomAD v4 |
2 | g.20005649A>G | CA2658010849 | MATN3 | c.790+95T>C (n.790+95T>C) | gnomAD v4 |
2 | g.20005650T>A | CA2658010850 | MATN3 | c.790+94A>T (n.790+94A>T) | gnomAD v4 |
2 | g.20005650_20005657del | CA1028161328 | MATN3 | c.790+87_790+94del (n.790+87_790+94del) | gnomAD v3 gnomAD v4 |
2 | g.20005651T>A | CA2658010851 | MATN3 | c.790+93A>T (n.790+93A>T) | gnomAD v4 |
2 | g.20005651T>C | CA2658010852 | MATN3 | c.790+93A>G (n.790+93A>G) | gnomAD v4 |
2 | g.20005651T>G | CA763243820 | MATN3 | c.790+93A>C (n.790+93A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005651T= | CA2493007765 | MATN3 | c.790+93A= (n.790+93A=) | |
2 | g.20005652T>C | CA2658010853 | MATN3 | c.790+92A>G (n.790+92A>G) | gnomAD v4 |
2 | g.20005652T= | CA2493007766 | MATN3 | c.790+92A= (n.790+92A=) | |
2 | g.20005653C>A | CA2658010855 | MATN3 | c.790+91G>T (n.790+91G>T) | gnomAD v4 |
2 | g.20005653C= | CA2493007767 | MATN3 | c.790+91G= (n.790+91G=) | |
2 | g.20005653C>G | CA2493007768 | MATN3 | c.790+91G>C (n.790+91G>C) | dbSNP |
2 | g.20005653C>T | CA2658010854 | MATN3 | c.790+91G>A (n.790+91G>A) | gnomAD v4 |
2 | g.20005656_20005658dup | CA763243822 | MATN3 | c.790+89_790+91dup (n.790+89_790+91dup) | dbSNP gnomAD v4 |
2 | g.20005654C>A | CA2658010856 | MATN3 | c.790+90G>T (n.790+90G>T) | gnomAD v4 |
2 | g.20005654C>T | CA2658010857 | MATN3 | c.790+90G>A (n.790+90G>A) | gnomAD v4 |
2 | g.20005655A>C | CA2658010858 | MATN3 | c.790+89T>G (n.790+89T>G) | gnomAD v4 |
2 | g.20005655A>T | CA2658010859 | MATN3 | c.790+89T>A (n.790+89T>A) | gnomAD v4 |
2 | g.20005656C>A | CA2658010862 | MATN3 | c.790+88G>T (n.790+88G>T) | gnomAD v4 |
2 | g.20005656C>T | CA2658010861 | MATN3 | c.790+88G>A (n.790+88G>A) | gnomAD v4 |
2 | g.20005657dup | CA2658010860 | MATN3 | c.790+88dup (n.790+88dup) | gnomAD v4 |
2 | g.20005657C>A | CA2658010863 | MATN3 | c.790+87G>T (n.790+87G>T) | gnomAD v4 |
2 | g.20005657C= | CA2493007769 | MATN3 | c.790+87G= (n.790+87G=) | |
2 | g.20005657C>G | CA2658010864 | MATN3 | c.790+87G>C (n.790+87G>C) | gnomAD v4 |
2 | g.20005657C>T | CA1028161335 | MATN3 | c.790+87G>A (n.790+87G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005658A= | CA2493007772 | MATN3 | c.790+86T= (n.790+86T=) | |
2 | g.20005659_20005660insGAAA | CA2493007770 | MATN3 | c.790+86_790+87insTCTT (n.790+86_790+87insTCTT) | dbSNP |
2 | g.20005660_20005661insGAAA | CA2493007771 | MATN3 | c.790+86_790+87insCTTT (n.790+86_790+87insCTTT) | dbSNP |
2 | g.20005663_20005664insAAAAAAAA | CA1028161338 | MATN3 | c.790+86_790+87insTTTTTTTT (n.790+86_790+87insTTTTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.20005663dup | CA530853130 | MATN3 | c.790+86dup (n.790+86dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005662_20005663dup | CA43403323 | MATN3 | c.790+85_790+86dup (n.790+85_790+86dup) | dbSNP gnomAD v4 |
2 | g.20005663del | CA2658010865 | MATN3 | c.790+86del (n.790+86del) | gnomAD v4 |
2 | g.20005658_20005659insC | CA2658010866 | MATN3 | c.790+85_790+86insG (n.790+85_790+86insG) | gnomAD v4 |
2 | g.20005658_20005659insG | CA2538749069 | MATN3 | c.790+85_790+86insC (n.790+85_790+86insC) | dbSNP gnomAD v4 |
2 | g.20005659A= | CA2493007773 | MATN3 | c.790+85T= (n.790+85T=) | |
2 | g.20005659A>G | CA2658010867 | MATN3 | c.790+85T>C (n.790+85T>C) | gnomAD v4 |
2 | g.20005661_20005662insGAAA | CA763243827 | MATN3 | c.790+85_790+86insCTTT (n.790+85_790+86insCTTT) | dbSNP |
2 | g.20005659_20005660insG | CA2658010868 | MATN3 | c.790+84_790+85insC (n.790+84_790+85insC) | gnomAD v4 |
2 | g.20005660A= | CA2493007774 | MATN3 | c.790+84T= (n.790+84T=) | |
2 | g.20005660A>G | CA763243828 | MATN3 | c.790+84T>C (n.790+84T>C) | dbSNP gnomAD v4 |
2 | g.20005662_20005663insGAAA | CA43403324 | MATN3 | c.790+84_790+85insCTTT (n.790+84_790+85insCTTT) | dbSNP |
2 | g.20005660_20005661insC | CA2658010869 | MATN3 | c.790+83_790+84insG (n.790+83_790+84insG) | gnomAD v4 |
2 | g.20005661A= | CA2493007775 | MATN3 | c.790+83T= (n.790+83T=) | |
2 | g.20005661_20005662insG | CA2519411538 | MATN3 | c.790+82_790+83insC (n.790+82_790+83insC) | |
2 | g.20005661_20005662insT | CA2493007777 | MATN3 | c.790+82_790+83insA (n.790+82_790+83insA) | dbSNP gnomAD v4 |
2 | g.20005662A= | CA2493007776 | MATN3 | c.790+82T= (n.790+82T=) | |
2 | g.20005662A>G | CA43403329 | MATN3 | c.790+82T>C (n.790+82T>C) | dbSNP gnomAD v4 |
2 | g.20005662_20005663insG | CA2576684675 | MATN3 | c.790+81_790+82insC (n.790+81_790+82insC) | |
2 | g.20005663A= | CA2493007778 | MATN3 | c.790+81T= (n.790+81T=) | |
2 | g.20005663_20005664insACA | CA2576684677 | MATN3 | c.790+81_790+82insGTT (n.790+81_790+82insGTT) | |
2 | g.20005663_20005664insAGA | CA916486919 | MATN3 | c.790+81_790+82insCTT (n.790+81_790+82insCTT) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005663_20005664insAAGA | CA43403341 | MATN3 | c.790+81_790+82insCTTT (n.790+81_790+82insCTTT) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.20005663_20005664insAATA | CA2576684678 | MATN3 | c.790+81_790+82insATTT (n.790+81_790+82insATTT) | dbSNP gnomAD v4 |
2 | g.20005663_20005664insAGGA | CA2658010872 | MATN3 | c.790+81_790+82insCCTT (n.790+81_790+82insCCTT) | gnomAD v4 |
2 | g.20005663_20005664insATGA | CA2658010871 | MATN3 | c.790+81_790+82insCATT (n.790+81_790+82insCATT) | gnomAD v4 |
2 | g.20005663_20005664insTAGA | CA2576684676 | MATN3 | c.790+81_790+82insCTAT (n.790+81_790+82insCTAT) | |
2 | g.20005663_20005664insAAAGA | CA1028161341 | MATN3 | c.790+81_790+82insCTTTT (n.790+81_790+82insCTTTT) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005663_20005664insAAAAGA | CA2658010873 | MATN3 | c.790+81_790+82insCTTTTT (n.790+81_790+82insCTTTTT) | gnomAD v4 |
2 | g.20005663_20005664insAAAAAAAGA | CA1028161339 | MATN3 | c.790+81_790+82insCTTTTTTTT (n.790+81_790+82insCTTTTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.20005663_20005664insAATCACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAAAGA | CA1028161343 | MATN3 | c.790+81_790+82insCTTTTTTTTGGTGGAAATTTAATGAAAAACTTAAATATATCCAATGCGTGTGTGTGATTT (n.790+81_790+82insCTTTTTTTTGGTGGAAATTTAATGAAAAACTTAAATATATCCAATGCGTGTGTGTGATTT) | gnomAD v3 gnomAD v4 |
2 | g.20005665_20005666insGAGA | CA2658010870 | MATN3 | c.790+81_790+82insCTCT (n.790+81_790+82insCTCT) | gnomAD v4 |
2 | g.20005664_20005665dup | CA2576684674 | MATN3 | c.790+80_790+81dup (n.790+80_790+81dup) | gnomAD v4 |
2 | g.20005663_20005664insAAAG | CA43403362 | MATN3 | c.790+80_790+81insCTTT (n.790+80_790+81insCTTT) | dbSNP |
2 | g.20005663_20005664insAAGG | CA2493007779 | MATN3 | c.790+80_790+81insCCTT (n.790+80_790+81insCCTT) | dbSNP gnomAD v4 |
2 | g.20005663_20005664insAAGT | CA2698806315 | MATN3 | c.790+80_790+81insACTT (n.790+80_790+81insACTT) | dbSNP |
2 | g.20005664G>A | CA2493007781 | MATN3 | c.790+80C>T (n.790+80C>T) | dbSNP |
2 | g.20005664G= | CA2493007780 | MATN3 | c.790+80C= (n.790+80C=) | |
2 | g.20005664G>T | CA2576684679 | MATN3 | c.790+80C>A (n.790+80C>A) | |
2 | g.20005665_20005666insTA | CA2658010874 | MATN3 | c.790+79_790+80insAT (n.790+79_790+80insAT) | gnomAD v4 |
2 | g.20005666_20005667insGAAA | CA43403371 | MATN3 | c.790+79_790+80insTCTT (n.790+79_790+80insTCTT) | dbSNP |
2 | g.20005665_20005666insGC | CA2658010875 | MATN3 | c.790+78_790+79insGC (n.790+78_790+79insGC) | gnomAD v4 |
2 | g.20005666A>C | CA2658010876 | MATN3 | c.790+78T>G (n.790+78T>G) | gnomAD v4 |
2 | g.20005666A>G | CA2576684680 | MATN3 | c.790+78T>C (n.790+78T>C) | |
2 | g.20005666A>T | CA2658010877 | MATN3 | c.790+78T>A (n.790+78T>A) | gnomAD v4 |
2 | g.20005667T>A | CA2658010878 | MATN3 | c.790+77A>T (n.790+77A>T) | gnomAD v4 |
2 | g.20005667T>G | CA2658010879 | MATN3 | c.790+77A>C (n.790+77A>C) | gnomAD v4 |
2 | g.20005669A= | CA2493007782 | MATN3 | c.790+75T= (n.790+75T=) | |
2 | g.20005669A>C | CA43403378 | MATN3 | c.790+75T>G (n.790+75T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005669A>G | CA1028161355 | MATN3 | c.790+75T>C (n.790+75T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005670T>A | CA43403381 | MATN3 | c.790+74A>T (n.790+74A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005670T>C | CA2493007784 | MATN3 | c.790+74A>G (n.790+74A>G) | dbSNP |
2 | g.20005670T= | CA2493007783 | MATN3 | c.790+74A= (n.790+74A=) | |
2 | g.20005671A= | CA2493007785 | MATN3 | c.790+73T= (n.790+73T=) | |
2 | g.20005671A>C | CA2658010880 | MATN3 | c.790+73T>G (n.790+73T>G) | gnomAD v4 |
2 | g.20005671A>T | CA43403389 | MATN3 | c.790+73T>A (n.790+73T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005672C>A | CA2658010881 | MATN3 | c.790+72G>T (n.790+72G>T) | gnomAD v4 |
2 | g.20005672C>T | CA2548268658 | MATN3 | c.790+72G>A (n.790+72G>A) | gnomAD v4 |
2 | g.20005673T>A | CA2658010882 | MATN3 | c.790+71A>T (n.790+71A>T) | gnomAD v4 |
2 | g.20005673T>C | CA2749074457 | MATN3 | c.790+71A>G (n.790+71A>G) | |
2 | g.20005674C>A | CA2658010883 | MATN3 | c.790+70G>T (n.790+70G>T) | gnomAD v4 |
2 | g.20005674C>G | CA2576684681 | MATN3 | c.790+70G>C (n.790+70G>C) | |
2 | g.20005674_20005676delinsCTT | CA2493007786 | MATN3 | c.790+68_790+70delinsAAG (n.790+68_790+70delinsAAG) |