UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.139325444A= | CA1586264907 | MATR3 | c.2153A= (p.Asp718=) c.2297A= (p.Asp766=) n.1606A= c.1139A= (p.Asp380=) c.1289A= (p.Asp430=) n.5873A= n.331A= c.461A= (p.Asp154=) c.1292A= (p.Asp431=) c.1283A= (p.Asp428=) c.1253A= (p.Asp418=) | |
| 5 | g.139325444A>C | CA361145962 | MATR3 | c.2153A>C (p.Asp718Ala) c.2297A>C (p.Asp766Ala) n.1606A>C c.1139A>C (p.Asp380Ala) c.1289A>C (p.Asp430Ala) n.5873A>C n.331A>C c.461A>C (p.Asp154Ala) c.1292A>C (p.Asp431Ala) c.1283A>C (p.Asp428Ala) c.1253A>C (p.Asp418Ala) | |
| 5 | g.139325444A>G | CA361145965 | MATR3 | c.2153A>G (p.Asp718Gly) c.2297A>G (p.Asp766Gly) n.1606A>G c.1139A>G (p.Asp380Gly) c.1289A>G (p.Asp430Gly) n.5873A>G n.331A>G c.461A>G (p.Asp154Gly) c.1292A>G (p.Asp431Gly) c.1283A>G (p.Asp428Gly) c.1253A>G (p.Asp418Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325444A>T | CA361145968 | MATR3 | c.2153A>T (p.Asp718Val) c.2297A>T (p.Asp766Val) n.1606A>T c.1139A>T (p.Asp380Val) c.1289A>T (p.Asp430Val) n.5873A>T n.331A>T c.461A>T (p.Asp154Val) c.1292A>T (p.Asp431Val) c.1283A>T (p.Asp428Val) c.1253A>T (p.Asp418Val) | |
| 5 | g.139325445C>A | CA361145970 | MATR3 | c.2154C>A (p.Asp718Glu) c.2298C>A (p.Asp766Glu) n.1607C>A c.1140C>A (p.Asp380Glu) c.1290C>A (p.Asp430Glu) n.5874C>A n.332C>A c.462C>A (p.Asp154Glu) c.1293C>A (p.Asp431Glu) c.1284C>A (p.Asp428Glu) c.1254C>A (p.Asp418Glu) | |
| 5 | g.139325445C= | CA1586264910 | MATR3 | c.2154C= (p.Asp718=) c.2298C= (p.Asp766=) n.1607C= c.1140C= (p.Asp380=) c.1290C= (p.Asp430=) n.5874C= n.332C= c.462C= (p.Asp154=) c.1293C= (p.Asp431=) c.1284C= (p.Asp428=) c.1254C= (p.Asp418=) | |
| 5 | g.139325445C>G | CA361145972 | MATR3 | c.2154C>G (p.Asp718Glu) c.2298C>G (p.Asp766Glu) n.1607C>G c.1140C>G (p.Asp380Glu) c.1290C>G (p.Asp430Glu) n.5874C>G n.332C>G c.462C>G (p.Asp154Glu) c.1293C>G (p.Asp431Glu) c.1284C>G (p.Asp428Glu) c.1254C>G (p.Asp418Glu) | gnomAD v4 |
| 5 | g.139325445C>T | CA446793421 | MATR3 | c.2154C>T (p.Asp718=) c.2298C>T (p.Asp766=) n.1607C>T c.1140C>T (p.Asp380=) c.1290C>T (p.Asp430=) n.5874C>T n.332C>T c.462C>T (p.Asp154=) c.1293C>T (p.Asp431=) c.1284C>T (p.Asp428=) c.1254C>T (p.Asp418=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325446A= | CA1586264913 | MATR3 | c.2155A= (p.Lys719=) c.2299A= (p.Lys767=) n.1608A= c.1141A= (p.Lys381=) c.1291A= (p.Lys431=) n.5875A= n.333A= c.463A= (p.Lys155=) c.1294A= (p.Lys432=) c.1285A= (p.Lys429=) c.1255A= (p.Lys419=) | |
| 5 | g.139325446A>C | CA361145973 | MATR3 | c.2155A>C (p.Lys719Gln) c.2299A>C (p.Lys767Gln) n.1608A>C c.1141A>C (p.Lys381Gln) c.1291A>C (p.Lys431Gln) n.5875A>C n.333A>C c.463A>C (p.Lys155Gln) c.1294A>C (p.Lys432Gln) c.1285A>C (p.Lys429Gln) c.1255A>C (p.Lys419Gln) | |
| 5 | g.139325446A>G | CA3433375 | MATR3 | c.2155A>G (p.Lys719Glu) c.2299A>G (p.Lys767Glu) n.1608A>G c.1141A>G (p.Lys381Glu) c.1291A>G (p.Lys431Glu) n.5875A>G n.333A>G c.463A>G (p.Lys155Glu) c.1294A>G (p.Lys432Glu) c.1285A>G (p.Lys429Glu) c.1255A>G (p.Lys419Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325446A>T | CA361145975 | MATR3 | c.2155A>T (p.Lys719Ter) c.2299A>T (p.Lys767Ter) n.1608A>T c.1141A>T (p.Lys381Ter) c.1291A>T (p.Lys431Ter) n.5875A>T n.333A>T c.463A>T (p.Lys155Ter) c.1294A>T (p.Lys432Ter) c.1285A>T (p.Lys429Ter) c.1255A>T (p.Lys419Ter) | |
| 5 | g.139325447A= | CA1586264917 | MATR3 | c.2156A= (p.Lys719=) c.2300A= (p.Lys767=) n.1609A= c.1142A= (p.Lys381=) c.1292A= (p.Lys431=) n.5876A= n.334A= c.464A= (p.Lys155=) c.1295A= (p.Lys432=) c.1286A= (p.Lys429=) c.1256A= (p.Lys419=) | |
| 5 | g.139325447A>C | CA361145977 | MATR3 | c.2156A>C (p.Lys719Thr) c.2300A>C (p.Lys767Thr) n.1609A>C c.1142A>C (p.Lys381Thr) c.1292A>C (p.Lys431Thr) n.5876A>C n.334A>C c.464A>C (p.Lys155Thr) c.1295A>C (p.Lys432Thr) c.1286A>C (p.Lys429Thr) c.1256A>C (p.Lys419Thr) | |
| 5 | g.139325447A>G | CA3433376 | MATR3 | c.2156A>G (p.Lys719Arg) c.2300A>G (p.Lys767Arg) n.1609A>G c.1142A>G (p.Lys381Arg) c.1292A>G (p.Lys431Arg) n.5876A>G n.334A>G c.464A>G (p.Lys155Arg) c.1295A>G (p.Lys432Arg) c.1286A>G (p.Lys429Arg) c.1256A>G (p.Lys419Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325447A>T | CA361145978 | MATR3 | c.2156A>T (p.Lys719Met) c.2300A>T (p.Lys767Met) n.1609A>T c.1142A>T (p.Lys381Met) c.1292A>T (p.Lys431Met) n.5876A>T n.334A>T c.464A>T (p.Lys155Met) c.1295A>T (p.Lys432Met) c.1286A>T (p.Lys429Met) c.1256A>T (p.Lys419Met) | |
| 5 | g.139325448G>A | CA446793425 | MATR3 | c.2157G>A (p.Lys719=) c.2301G>A (p.Lys767=) n.1610G>A c.1143G>A (p.Lys381=) c.1293G>A (p.Lys431=) n.5877G>A n.335G>A c.465G>A (p.Lys155=) c.1296G>A (p.Lys432=) c.1287G>A (p.Lys429=) c.1257G>A (p.Lys419=) | |
| 5 | g.139325448G>C | CA361145979 | MATR3 | c.2157G>C (p.Lys719Asn) c.2301G>C (p.Lys767Asn) n.1610G>C c.1143G>C (p.Lys381Asn) c.1293G>C (p.Lys431Asn) n.5877G>C n.335G>C c.465G>C (p.Lys155Asn) c.1296G>C (p.Lys432Asn) c.1287G>C (p.Lys429Asn) c.1257G>C (p.Lys419Asn) | |
| 5 | g.139325448G>T | CA361145980 | MATR3 | c.2157G>T (p.Lys719Asn) c.2301G>T (p.Lys767Asn) n.1610G>T c.1143G>T (p.Lys381Asn) c.1293G>T (p.Lys431Asn) n.5877G>T n.335G>T c.465G>T (p.Lys155Asn) c.1296G>T (p.Lys432Asn) c.1287G>T (p.Lys429Asn) c.1257G>T (p.Lys419Asn) | |
| 5 | g.139325449A= | CA1586264921 | MATR3 | c.2158A= (p.Ile720=) c.2302A= (p.Ile768=) n.1611A= c.1144A= (p.Ile382=) c.1294A= (p.Ile432=) n.5878A= n.336A= c.466A= (p.Ile156=) c.1297A= (p.Ile433=) c.1288A= (p.Ile430=) c.1258A= (p.Ile420=) | |
| 5 | g.139325449A>C | CA361145983 | MATR3 | c.2158A>C (p.Ile720Leu) c.2302A>C (p.Ile768Leu) n.1611A>C c.1144A>C (p.Ile382Leu) c.1294A>C (p.Ile432Leu) n.5878A>C n.336A>C c.466A>C (p.Ile156Leu) c.1297A>C (p.Ile433Leu) c.1288A>C (p.Ile430Leu) c.1258A>C (p.Ile420Leu) | |
| 5 | g.139325449A>G | CA3433377 | MATR3 | c.2158A>G (p.Ile720Val) c.2302A>G (p.Ile768Val) n.1611A>G c.1144A>G (p.Ile382Val) c.1294A>G (p.Ile432Val) n.5878A>G n.336A>G c.466A>G (p.Ile156Val) c.1297A>G (p.Ile433Val) c.1288A>G (p.Ile430Val) c.1258A>G (p.Ile420Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325449A>T | CA361145982 | MATR3 | c.2158A>T (p.Ile720Phe) c.2302A>T (p.Ile768Phe) n.1611A>T c.1144A>T (p.Ile382Phe) c.1294A>T (p.Ile432Phe) n.5878A>T n.336A>T c.466A>T (p.Ile156Phe) c.1297A>T (p.Ile433Phe) c.1288A>T (p.Ile430Phe) c.1258A>T (p.Ile420Phe) | |
| 5 | g.139325450T>A | CA361145984 | MATR3 | c.2159T>A (p.Ile720Asn) c.2303T>A (p.Ile768Asn) n.1612T>A c.1145T>A (p.Ile382Asn) c.1295T>A (p.Ile432Asn) n.5879T>A n.337T>A c.467T>A (p.Ile156Asn) c.1298T>A (p.Ile433Asn) c.1289T>A (p.Ile430Asn) c.1259T>A (p.Ile420Asn) | |
| 5 | g.139325450T>C | CA361145986 | MATR3 | c.2159T>C (p.Ile720Thr) c.2303T>C (p.Ile768Thr) n.1612T>C c.1145T>C (p.Ile382Thr) c.1295T>C (p.Ile432Thr) n.5879T>C n.337T>C c.467T>C (p.Ile156Thr) c.1298T>C (p.Ile433Thr) c.1289T>C (p.Ile430Thr) c.1259T>C (p.Ile420Thr) | gnomAD v4 |
| 5 | g.139325450T>G | CA361145988 | MATR3 | c.2159T>G (p.Ile720Ser) c.2303T>G (p.Ile768Ser) n.1612T>G c.1145T>G (p.Ile382Ser) c.1295T>G (p.Ile432Ser) n.5879T>G n.337T>G c.467T>G (p.Ile156Ser) c.1298T>G (p.Ile433Ser) c.1289T>G (p.Ile430Ser) c.1259T>G (p.Ile420Ser) | |
| 5 | g.139325451C>A | CA446793428 | MATR3 | c.2160C>A (p.Ile720=) c.2304C>A (p.Ile768=) n.1613C>A c.1146C>A (p.Ile382=) c.1296C>A (p.Ile432=) n.5880C>A n.338C>A c.468C>A (p.Ile156=) c.1299C>A (p.Ile433=) c.1290C>A (p.Ile430=) c.1260C>A (p.Ile420=) | gnomAD v4 |
| 5 | g.139325451C= | CA1586264926 | MATR3 | c.2160C= (p.Ile720=) c.2304C= (p.Ile768=) n.1613C= c.1146C= (p.Ile382=) c.1296C= (p.Ile432=) n.5880C= n.338C= c.468C= (p.Ile156=) c.1299C= (p.Ile433=) c.1290C= (p.Ile430=) c.1260C= (p.Ile420=) | |
| 5 | g.139325451C>G | CA361145990 | MATR3 | c.2160C>G (p.Ile720Met) c.2304C>G (p.Ile768Met) n.1613C>G c.1146C>G (p.Ile382Met) c.1296C>G (p.Ile432Met) n.5880C>G n.338C>G c.468C>G (p.Ile156Met) c.1299C>G (p.Ile433Met) c.1290C>G (p.Ile430Met) c.1260C>G (p.Ile420Met) | dbSNP |
| 5 | g.139325451C>T | CA3433378 | MATR3 | c.2160C>T (p.Ile720=) c.2304C>T (p.Ile768=) n.1613C>T c.1146C>T (p.Ile382=) c.1296C>T (p.Ile432=) n.5880C>T n.338C>T c.468C>T (p.Ile156=) c.1299C>T (p.Ile433=) c.1290C>T (p.Ile430=) c.1260C>T (p.Ile420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.139325452G>A | CA3433379 | MATR3 | c.2161G>A (p.Glu721Lys) c.2305G>A (p.Glu769Lys) n.1614G>A c.1147G>A (p.Glu383Lys) c.1297G>A (p.Glu433Lys) n.5881G>A n.339G>A c.469G>A (p.Glu157Lys) c.1300G>A (p.Glu434Lys) c.1291G>A (p.Glu431Lys) c.1261G>A (p.Glu421Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325452G>C | CA361145996 | MATR3 | c.2161G>C (p.Glu721Gln) c.2305G>C (p.Glu769Gln) n.1614G>C c.1147G>C (p.Glu383Gln) c.1297G>C (p.Glu433Gln) n.5881G>C n.339G>C c.469G>C (p.Glu157Gln) c.1300G>C (p.Glu434Gln) c.1291G>C (p.Glu431Gln) c.1261G>C (p.Glu421Gln) | |
| 5 | g.139325452G= | CA1586264933 | MATR3 | c.2161G= (p.Glu721=) c.2305G= (p.Glu769=) n.1614G= c.1147G= (p.Glu383=) c.1297G= (p.Glu433=) n.5881G= n.339G= c.469G= (p.Glu157=) c.1300G= (p.Glu434=) c.1291G= (p.Glu431=) c.1261G= (p.Glu421=) | |
| 5 | g.139325452G>T | CA361145997 | MATR3 | c.2161G>T (p.Glu721Ter) c.2305G>T (p.Glu769Ter) n.1614G>T c.1147G>T (p.Glu383Ter) c.1297G>T (p.Glu433Ter) n.5881G>T n.339G>T c.469G>T (p.Glu157Ter) c.1300G>T (p.Glu434Ter) c.1291G>T (p.Glu431Ter) c.1261G>T (p.Glu421Ter) | |
| 5 | g.139325453A>C | CA361145998 | MATR3 | c.2162A>C (p.Glu721Ala) c.2306A>C (p.Glu769Ala) n.1615A>C c.1148A>C (p.Glu383Ala) c.1298A>C (p.Glu433Ala) n.5882A>C n.340A>C c.470A>C (p.Glu157Ala) c.1301A>C (p.Glu434Ala) c.1292A>C (p.Glu431Ala) c.1262A>C (p.Glu421Ala) | |
| 5 | g.139325453A>G | CA361146000 | MATR3 | c.2162A>G (p.Glu721Gly) c.2306A>G (p.Glu769Gly) n.1615A>G c.1148A>G (p.Glu383Gly) c.1298A>G (p.Glu433Gly) n.5882A>G n.340A>G c.470A>G (p.Glu157Gly) c.1301A>G (p.Glu434Gly) c.1292A>G (p.Glu431Gly) c.1262A>G (p.Glu421Gly) | |
| 5 | g.139325453A>T | CA361146002 | MATR3 | c.2162A>T (p.Glu721Val) c.2306A>T (p.Glu769Val) n.1615A>T c.1148A>T (p.Glu383Val) c.1298A>T (p.Glu433Val) n.5882A>T n.340A>T c.470A>T (p.Glu157Val) c.1301A>T (p.Glu434Val) c.1292A>T (p.Glu431Val) c.1262A>T (p.Glu421Val) | |
| 5 | g.139325454G>A | CA446793429 | MATR3 | c.2163G>A (p.Glu721=) c.2307G>A (p.Glu769=) n.1616G>A c.1149G>A (p.Glu383=) c.1299G>A (p.Glu433=) n.5883G>A n.341G>A c.471G>A (p.Glu157=) c.1302G>A (p.Glu434=) c.1293G>A (p.Glu431=) c.1263G>A (p.Glu421=) | |
| 5 | g.139325454G>C | CA361146004 | MATR3 | c.2163G>C (p.Glu721Asp) c.2307G>C (p.Glu769Asp) n.1616G>C c.1149G>C (p.Glu383Asp) c.1299G>C (p.Glu433Asp) n.5883G>C n.341G>C c.471G>C (p.Glu157Asp) c.1302G>C (p.Glu434Asp) c.1293G>C (p.Glu431Asp) c.1263G>C (p.Glu421Asp) | gnomAD v4 |
| 5 | g.139325454G>T | CA361146005 | MATR3 | c.2163G>T (p.Glu721Asp) c.2307G>T (p.Glu769Asp) n.1616G>T c.1149G>T (p.Glu383Asp) c.1299G>T (p.Glu433Asp) n.5883G>T n.341G>T c.471G>T (p.Glu157Asp) c.1302G>T (p.Glu434Asp) c.1293G>T (p.Glu431Asp) c.1263G>T (p.Glu421Asp) | |
| 5 | g.139325455G>A | CA361146010 | MATR3 | c.2164G>A (p.Glu722Lys) c.2308G>A (p.Glu770Lys) n.1617G>A c.1150G>A (p.Glu384Lys) c.1300G>A (p.Glu434Lys) n.5884G>A n.342G>A c.472G>A (p.Glu158Lys) c.1303G>A (p.Glu435Lys) c.1294G>A (p.Glu432Lys) c.1264G>A (p.Glu422Lys) | |
| 5 | g.139325455G>C | CA361146013 | MATR3 | c.2164G>C (p.Glu722Gln) c.2308G>C (p.Glu770Gln) n.1617G>C c.1150G>C (p.Glu384Gln) c.1300G>C (p.Glu434Gln) n.5884G>C n.342G>C c.472G>C (p.Glu158Gln) c.1303G>C (p.Glu435Gln) c.1294G>C (p.Glu432Gln) c.1264G>C (p.Glu422Gln) | gnomAD v4 |
| 5 | g.139325455G>T | CA361146007 | MATR3 | c.2164G>T (p.Glu722Ter) c.2308G>T (p.Glu770Ter) n.1617G>T c.1150G>T (p.Glu384Ter) c.1300G>T (p.Glu434Ter) n.5884G>T n.342G>T c.472G>T (p.Glu158Ter) c.1303G>T (p.Glu435Ter) c.1294G>T (p.Glu432Ter) c.1264G>T (p.Glu422Ter) | |
| 5 | g.139325456A>C | CA361146016 | MATR3 | c.2165A>C (p.Glu722Ala) c.2309A>C (p.Glu770Ala) n.1618A>C c.1151A>C (p.Glu384Ala) c.1301A>C (p.Glu434Ala) n.5885A>C n.343A>C c.473A>C (p.Glu158Ala) c.1304A>C (p.Glu435Ala) c.1295A>C (p.Glu432Ala) c.1265A>C (p.Glu422Ala) | |
| 5 | g.139325456A>G | CA361146019 | MATR3 | c.2165A>G (p.Glu722Gly) c.2309A>G (p.Glu770Gly) n.1618A>G c.1151A>G (p.Glu384Gly) c.1301A>G (p.Glu434Gly) n.5885A>G n.343A>G c.473A>G (p.Glu158Gly) c.1304A>G (p.Glu435Gly) c.1295A>G (p.Glu432Gly) c.1265A>G (p.Glu422Gly) | |
| 5 | g.139325456A>T | CA361146018 | MATR3 | c.2165A>T (p.Glu722Val) c.2309A>T (p.Glu770Val) n.1618A>T c.1151A>T (p.Glu384Val) c.1301A>T (p.Glu434Val) n.5885A>T n.343A>T c.473A>T (p.Glu158Val) c.1304A>T (p.Glu435Val) c.1295A>T (p.Glu432Val) c.1265A>T (p.Glu422Val) | |
| 5 | g.139325457A>C | CA361146021 | MATR3 | c.2166A>C (p.Glu722Asp) c.2310A>C (p.Glu770Asp) n.1619A>C c.1152A>C (p.Glu384Asp) c.1302A>C (p.Glu434Asp) n.5886A>C n.344A>C c.474A>C (p.Glu158Asp) c.1305A>C (p.Glu435Asp) c.1296A>C (p.Glu432Asp) c.1266A>C (p.Glu422Asp) | |
| 5 | g.139325457A>G | CA446793431 | MATR3 | c.2166A>G (p.Glu722=) c.2310A>G (p.Glu770=) n.1619A>G c.1152A>G (p.Glu384=) c.1302A>G (p.Glu434=) n.5886A>G n.344A>G c.474A>G (p.Glu158=) c.1305A>G (p.Glu435=) c.1296A>G (p.Glu432=) c.1266A>G (p.Glu422=) | |
| 5 | g.139325457A>T | CA361146023 | MATR3 | c.2166A>T (p.Glu722Asp) c.2310A>T (p.Glu770Asp) n.1619A>T c.1152A>T (p.Glu384Asp) c.1302A>T (p.Glu434Asp) n.5886A>T n.344A>T c.474A>T (p.Glu158Asp) c.1305A>T (p.Glu435Asp) c.1296A>T (p.Glu432Asp) c.1266A>T (p.Glu422Asp) | |
| 5 | g.139325458C>A | CA361146025 | MATR3 | c.2167C>A (p.Leu723Ile) c.2311C>A (p.Leu771Ile) n.1620C>A c.1153C>A (p.Leu385Ile) c.1303C>A (p.Leu435Ile) n.5887C>A n.345C>A c.475C>A (p.Leu159Ile) c.1306C>A (p.Leu436Ile) c.1297C>A (p.Leu433Ile) c.1267C>A (p.Leu423Ile) | |
| 5 | g.139325458C>G | CA361146026 | MATR3 | c.2167C>G (p.Leu723Val) c.2311C>G (p.Leu771Val) n.1620C>G c.1153C>G (p.Leu385Val) c.1303C>G (p.Leu435Val) n.5887C>G n.345C>G c.475C>G (p.Leu159Val) c.1306C>G (p.Leu436Val) c.1297C>G (p.Leu433Val) c.1267C>G (p.Leu423Val) | |
| 5 | g.139325458C>T | CA361146027 | MATR3 | c.2167C>T (p.Leu723Phe) c.2311C>T (p.Leu771Phe) n.1620C>T c.1153C>T (p.Leu385Phe) c.1303C>T (p.Leu435Phe) n.5887C>T n.345C>T c.475C>T (p.Leu159Phe) c.1306C>T (p.Leu436Phe) c.1297C>T (p.Leu433Phe) c.1267C>T (p.Leu423Phe) | ClinVar gnomAD v4 |
| 5 | g.139325459T>A | CA361146030 | MATR3 | c.2168T>A (p.Leu723His) c.2312T>A (p.Leu771His) n.1621T>A c.1154T>A (p.Leu385His) c.1304T>A (p.Leu435His) n.5888T>A n.346T>A c.476T>A (p.Leu159His) c.1307T>A (p.Leu436His) c.1298T>A (p.Leu433His) c.1268T>A (p.Leu423His) | |
| 5 | g.139325459T>C | CA361146031 | MATR3 | c.2168T>C (p.Leu723Pro) c.2312T>C (p.Leu771Pro) n.1621T>C c.1154T>C (p.Leu385Pro) c.1304T>C (p.Leu435Pro) n.5888T>C n.346T>C c.476T>C (p.Leu159Pro) c.1307T>C (p.Leu436Pro) c.1298T>C (p.Leu433Pro) c.1268T>C (p.Leu423Pro) | |
| 5 | g.139325459T>G | CA361146032 | MATR3 | c.2168T>G (p.Leu723Arg) c.2312T>G (p.Leu771Arg) n.1621T>G c.1154T>G (p.Leu385Arg) c.1304T>G (p.Leu435Arg) n.5888T>G n.346T>G c.476T>G (p.Leu159Arg) c.1307T>G (p.Leu436Arg) c.1298T>G (p.Leu433Arg) c.1268T>G (p.Leu423Arg) | |
| 5 | g.139325460T>A | CA446793432 | MATR3 | c.2169T>A (p.Leu723=) c.2313T>A (p.Leu771=) n.1622T>A c.1155T>A (p.Leu385=) c.1305T>A (p.Leu435=) n.5889T>A n.347T>A c.477T>A (p.Leu159=) c.1308T>A (p.Leu436=) c.1299T>A (p.Leu433=) c.1269T>A (p.Leu423=) | |
| 5 | g.139325460T>C | CA446793434 | MATR3 | c.2169T>C (p.Leu723=) c.2313T>C (p.Leu771=) n.1622T>C c.1155T>C (p.Leu385=) c.1305T>C (p.Leu435=) n.5889T>C n.347T>C c.477T>C (p.Leu159=) c.1308T>C (p.Leu436=) c.1299T>C (p.Leu433=) c.1269T>C (p.Leu423=) | |
| 5 | g.139325460T>G | CA446793433 | MATR3 | c.2169T>G (p.Leu723=) c.2313T>G (p.Leu771=) n.1622T>G c.1155T>G (p.Leu385=) c.1305T>G (p.Leu435=) n.5889T>G n.347T>G c.477T>G (p.Leu159=) c.1308T>G (p.Leu436=) c.1299T>G (p.Leu433=) c.1269T>G (p.Leu423=) | |
| 5 | g.139325461G>A | CA361146034 | MATR3 | c.2170G>A (p.Asp724Asn) c.2314G>A (p.Asp772Asn) n.1623G>A c.1156G>A (p.Asp386Asn) c.1306G>A (p.Asp436Asn) n.5890G>A n.348G>A c.478G>A (p.Asp160Asn) c.1309G>A (p.Asp437Asn) c.1300G>A (p.Asp434Asn) c.1270G>A (p.Asp424Asn) | dbSNP |
| 5 | g.139325461G>C | CA361146035 | MATR3 | c.2170G>C (p.Asp724His) c.2314G>C (p.Asp772His) n.1623G>C c.1156G>C (p.Asp386His) c.1306G>C (p.Asp436His) n.5890G>C n.348G>C c.478G>C (p.Asp160His) c.1309G>C (p.Asp437His) c.1300G>C (p.Asp434His) c.1270G>C (p.Asp424His) | ClinVar dbSNP |
| 5 | g.139325461G= | CA1586264940 | MATR3 | c.2170G= (p.Asp724=) c.2314G= (p.Asp772=) n.1623G= c.1156G= (p.Asp386=) c.1306G= (p.Asp436=) n.5890G= n.348G= c.478G= (p.Asp160=) c.1309G= (p.Asp437=) c.1300G= (p.Asp434=) c.1270G= (p.Asp424=) | |
| 5 | g.139325461G>T | CA361146037 | MATR3 | c.2170G>T (p.Asp724Tyr) c.2314G>T (p.Asp772Tyr) n.1623G>T c.1156G>T (p.Asp386Tyr) c.1306G>T (p.Asp436Tyr) n.5890G>T n.348G>T c.478G>T (p.Asp160Tyr) c.1309G>T (p.Asp437Tyr) c.1300G>T (p.Asp434Tyr) c.1270G>T (p.Asp424Tyr) | |
| 5 | g.139325462A= | CA1586264942 | MATR3 | c.2171A= (p.Asp724=) c.2315A= (p.Asp772=) n.1624A= c.1157A= (p.Asp386=) c.1307A= (p.Asp436=) n.5891A= n.349A= c.479A= (p.Asp160=) c.1310A= (p.Asp437=) c.1301A= (p.Asp434=) c.1271A= (p.Asp424=) | |
| 5 | g.139325462A>C | CA361146042 | MATR3 | c.2171A>C (p.Asp724Ala) c.2315A>C (p.Asp772Ala) n.1624A>C c.1157A>C (p.Asp386Ala) c.1307A>C (p.Asp436Ala) n.5891A>C n.349A>C c.479A>C (p.Asp160Ala) c.1310A>C (p.Asp437Ala) c.1301A>C (p.Asp434Ala) c.1271A>C (p.Asp424Ala) | |
| 5 | g.139325462A>G | CA361146039 | MATR3 | c.2171A>G (p.Asp724Gly) c.2315A>G (p.Asp772Gly) n.1624A>G c.1157A>G (p.Asp386Gly) c.1307A>G (p.Asp436Gly) n.5891A>G n.349A>G c.479A>G (p.Asp160Gly) c.1310A>G (p.Asp437Gly) c.1301A>G (p.Asp434Gly) c.1271A>G (p.Asp424Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325462A>T | CA361146040 | MATR3 | c.2171A>T (p.Asp724Val) c.2315A>T (p.Asp772Val) n.1624A>T c.1157A>T (p.Asp386Val) c.1307A>T (p.Asp436Val) n.5891A>T n.349A>T c.479A>T (p.Asp160Val) c.1310A>T (p.Asp437Val) c.1301A>T (p.Asp434Val) c.1271A>T (p.Asp424Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.139325463T>A | CA361146044 | MATR3 | c.2172T>A (p.Asp724Glu) c.2316T>A (p.Asp772Glu) n.1625T>A c.1158T>A (p.Asp386Glu) c.1308T>A (p.Asp436Glu) n.5892T>A n.350T>A c.480T>A (p.Asp160Glu) c.1311T>A (p.Asp437Glu) c.1302T>A (p.Asp434Glu) c.1272T>A (p.Asp424Glu) | |
| 5 | g.139325463T>C | CA446793441 | MATR3 | c.2172T>C (p.Asp724=) c.2316T>C (p.Asp772=) n.1625T>C c.1158T>C (p.Asp386=) c.1308T>C (p.Asp436=) n.5892T>C n.350T>C c.480T>C (p.Asp160=) c.1311T>C (p.Asp437=) c.1302T>C (p.Asp434=) c.1272T>C (p.Asp424=) | |
| 5 | g.139325463T>G | CA361146045 | MATR3 | c.2172T>G (p.Asp724Glu) c.2316T>G (p.Asp772Glu) n.1625T>G c.1158T>G (p.Asp386Glu) c.1308T>G (p.Asp436Glu) n.5892T>G n.350T>G c.480T>G (p.Asp160Glu) c.1311T>G (p.Asp437Glu) c.1302T>G (p.Asp434Glu) c.1272T>G (p.Asp424Glu) | |
| 5 | g.139325464C>A | CA361146047 | MATR3 | c.2173C>A (p.Gln725Lys) c.2317C>A (p.Gln773Lys) n.1626C>A c.1159C>A (p.Gln387Lys) c.1309C>A (p.Gln437Lys) n.5893C>A n.351C>A c.481C>A (p.Gln161Lys) c.1312C>A (p.Gln438Lys) c.1303C>A (p.Gln435Lys) c.1273C>A (p.Gln425Lys) | dbSNP gnomAD v2 |
| 5 | g.139325464C= | CA1586264944 | MATR3 | c.2173C= (p.Gln725=) c.2317C= (p.Gln773=) n.1626C= c.1159C= (p.Gln387=) c.1309C= (p.Gln437=) n.5893C= n.351C= c.481C= (p.Gln161=) c.1312C= (p.Gln438=) c.1303C= (p.Gln435=) c.1273C= (p.Gln425=) | |
| 5 | g.139325464C>G | CA361146048 | MATR3 | c.2173C>G (p.Gln725Glu) c.2317C>G (p.Gln773Glu) n.1626C>G c.1159C>G (p.Gln387Glu) c.1309C>G (p.Gln437Glu) n.5893C>G n.351C>G c.481C>G (p.Gln161Glu) c.1312C>G (p.Gln438Glu) c.1303C>G (p.Gln435Glu) c.1273C>G (p.Gln425Glu) | gnomAD v4 |
| 5 | g.139325464C>T | CA128240888 | MATR3 | c.2173C>T (p.Gln725Ter) c.2317C>T (p.Gln773Ter) n.1626C>T c.1159C>T (p.Gln387Ter) c.1309C>T (p.Gln437Ter) n.5893C>T n.351C>T c.481C>T (p.Gln161Ter) c.1312C>T (p.Gln438Ter) c.1303C>T (p.Gln435Ter) c.1273C>T (p.Gln425Ter) | dbSNP |
| 5 | g.139325465A>C | CA361146050 | MATR3 | c.2174A>C (p.Gln725Pro) c.2318A>C (p.Gln773Pro) n.1627A>C c.1160A>C (p.Gln387Pro) c.1310A>C (p.Gln437Pro) n.5894A>C n.352A>C c.482A>C (p.Gln161Pro) c.1313A>C (p.Gln438Pro) c.1304A>C (p.Gln435Pro) c.1274A>C (p.Gln425Pro) | |
| 5 | g.139325465A>G | CA361146052 | MATR3 | c.2174A>G (p.Gln725Arg) c.2318A>G (p.Gln773Arg) n.1627A>G c.1160A>G (p.Gln387Arg) c.1310A>G (p.Gln437Arg) n.5894A>G n.352A>G c.482A>G (p.Gln161Arg) c.1313A>G (p.Gln438Arg) c.1304A>G (p.Gln435Arg) c.1274A>G (p.Gln425Arg) | |
| 5 | g.139325465A>T | CA361146053 | MATR3 | c.2174A>T (p.Gln725Leu) c.2318A>T (p.Gln773Leu) n.1627A>T c.1160A>T (p.Gln387Leu) c.1310A>T (p.Gln437Leu) n.5894A>T n.352A>T c.482A>T (p.Gln161Leu) c.1313A>T (p.Gln438Leu) c.1304A>T (p.Gln435Leu) c.1274A>T (p.Gln425Leu) | |
| 5 | g.139325466A>C | CA361146055 | MATR3 | c.2175A>C (p.Gln725His) c.2319A>C (p.Gln773His) n.1628A>C c.1161A>C (p.Gln387His) c.1311A>C (p.Gln437His) n.5895A>C n.353A>C c.483A>C (p.Gln161His) c.1314A>C (p.Gln438His) c.1305A>C (p.Gln435His) c.1275A>C (p.Gln425His) | |
| 5 | g.139325466A>G | CA446793443 | MATR3 | c.2175A>G (p.Gln725=) c.2319A>G (p.Gln773=) n.1628A>G c.1161A>G (p.Gln387=) c.1311A>G (p.Gln437=) n.5895A>G n.353A>G c.483A>G (p.Gln161=) c.1314A>G (p.Gln438=) c.1305A>G (p.Gln435=) c.1275A>G (p.Gln425=) | gnomAD v4 |
| 5 | g.139325466A>T | CA361146057 | MATR3 | c.2175A>T (p.Gln725His) c.2319A>T (p.Gln773His) n.1628A>T c.1161A>T (p.Gln387His) c.1311A>T (p.Gln437His) n.5895A>T n.353A>T c.483A>T (p.Gln161His) c.1314A>T (p.Gln438His) c.1305A>T (p.Gln435His) c.1275A>T (p.Gln425His) | |
| 5 | g.139325467G>A | CA361146060 | MATR3 | c.2176G>A (p.Glu726Lys) c.2320G>A (p.Glu774Lys) n.1629G>A c.1162G>A (p.Glu388Lys) c.1312G>A (p.Glu438Lys) n.5896G>A n.354G>A c.484G>A (p.Glu162Lys) c.1315G>A (p.Glu439Lys) c.1306G>A (p.Glu436Lys) c.1276G>A (p.Glu426Lys) | |
| 5 | g.139325467G>C | CA361146062 | MATR3 | c.2176G>C (p.Glu726Gln) c.2320G>C (p.Glu774Gln) n.1629G>C c.1162G>C (p.Glu388Gln) c.1312G>C (p.Glu438Gln) n.5896G>C n.354G>C c.484G>C (p.Glu162Gln) c.1315G>C (p.Glu439Gln) c.1306G>C (p.Glu436Gln) c.1276G>C (p.Glu426Gln) | gnomAD v4 |
| 5 | g.139325467G>T | CA361146058 | MATR3 | c.2176G>T (p.Glu726Ter) c.2320G>T (p.Glu774Ter) n.1629G>T c.1162G>T (p.Glu388Ter) c.1312G>T (p.Glu438Ter) n.5896G>T n.354G>T c.484G>T (p.Glu162Ter) c.1315G>T (p.Glu439Ter) c.1306G>T (p.Glu436Ter) c.1276G>T (p.Glu426Ter) | |
| 5 | g.139325468A>C | CA361146064 | MATR3 | c.2177A>C (p.Glu726Ala) c.2321A>C (p.Glu774Ala) n.1630A>C c.1163A>C (p.Glu388Ala) c.1313A>C (p.Glu438Ala) n.5897A>C n.355A>C c.485A>C (p.Glu162Ala) c.1316A>C (p.Glu439Ala) c.1307A>C (p.Glu436Ala) c.1277A>C (p.Glu426Ala) | |
| 5 | g.139325468A>G | CA361146065 | MATR3 | c.2177A>G (p.Glu726Gly) c.2321A>G (p.Glu774Gly) n.1630A>G c.1163A>G (p.Glu388Gly) c.1313A>G (p.Glu438Gly) n.5897A>G n.355A>G c.485A>G (p.Glu162Gly) c.1316A>G (p.Glu439Gly) c.1307A>G (p.Glu436Gly) c.1277A>G (p.Glu426Gly) | |
| 5 | g.139325468A>T | CA361146067 | MATR3 | c.2177A>T (p.Glu726Val) c.2321A>T (p.Glu774Val) n.1630A>T c.1163A>T (p.Glu388Val) c.1313A>T (p.Glu438Val) n.5897A>T n.355A>T c.485A>T (p.Glu162Val) c.1316A>T (p.Glu439Val) c.1307A>T (p.Glu436Val) c.1277A>T (p.Glu426Val) | |
| 5 | g.139325469A>C | CA361146068 | MATR3 | c.2178A>C (p.Glu726Asp) c.2322A>C (p.Glu774Asp) n.1631A>C c.1164A>C (p.Glu388Asp) c.1314A>C (p.Glu438Asp) n.5898A>C n.356A>C c.486A>C (p.Glu162Asp) c.1317A>C (p.Glu439Asp) c.1308A>C (p.Glu436Asp) c.1278A>C (p.Glu426Asp) | |
| 5 | g.139325469A>G | CA446793449 | MATR3 | c.2178A>G (p.Glu726=) c.2322A>G (p.Glu774=) n.1631A>G c.1164A>G (p.Glu388=) c.1314A>G (p.Glu438=) n.5898A>G n.356A>G c.486A>G (p.Glu162=) c.1317A>G (p.Glu439=) c.1308A>G (p.Glu436=) c.1278A>G (p.Glu426=) | |
| 5 | g.139325469A>T | CA361146071 | MATR3 | c.2178A>T (p.Glu726Asp) c.2322A>T (p.Glu774Asp) n.1631A>T c.1164A>T (p.Glu388Asp) c.1314A>T (p.Glu438Asp) n.5898A>T n.356A>T c.486A>T (p.Glu162Asp) c.1317A>T (p.Glu439Asp) c.1308A>T (p.Glu436Asp) c.1278A>T (p.Glu426Asp) | |
| 5 | g.139325470A>C | CA361146076 | MATR3 | c.2179A>C (p.Asn727His) c.2323A>C (p.Asn775His) n.1632A>C c.1165A>C (p.Asn389His) c.1315A>C (p.Asn439His) n.5899A>C n.357A>C c.487A>C (p.Asn163His) c.1318A>C (p.Asn440His) c.1309A>C (p.Asn437His) c.1279A>C (p.Asn427His) | |
| 5 | g.139325470A>G | CA361146074 | MATR3 | c.2179A>G (p.Asn727Asp) c.2323A>G (p.Asn775Asp) n.1632A>G c.1165A>G (p.Asn389Asp) c.1315A>G (p.Asn439Asp) n.5899A>G n.357A>G c.487A>G (p.Asn163Asp) c.1318A>G (p.Asn440Asp) c.1309A>G (p.Asn437Asp) c.1279A>G (p.Asn427Asp) | |
| 5 | g.139325470A>T | CA361146073 | MATR3 | c.2179A>T (p.Asn727Tyr) c.2323A>T (p.Asn775Tyr) n.1632A>T c.1165A>T (p.Asn389Tyr) c.1315A>T (p.Asn439Tyr) n.5899A>T n.357A>T c.487A>T (p.Asn163Tyr) c.1318A>T (p.Asn440Tyr) c.1309A>T (p.Asn437Tyr) c.1279A>T (p.Asn427Tyr) | |
| 5 | g.139325471A= | CA1586264948 | MATR3 | c.2180A= (p.Asn727=) c.2324A= (p.Asn775=) n.1633A= c.1166A= (p.Asn389=) c.1316A= (p.Asn439=) n.5900A= n.358A= c.488A= (p.Asn163=) c.1319A= (p.Asn440=) c.1310A= (p.Asn437=) c.1280A= (p.Asn427=) | |
| 5 | g.139325471A>C | CA361146077 | MATR3 | c.2180A>C (p.Asn727Thr) c.2324A>C (p.Asn775Thr) n.1633A>C c.1166A>C (p.Asn389Thr) c.1316A>C (p.Asn439Thr) n.5900A>C n.358A>C c.488A>C (p.Asn163Thr) c.1319A>C (p.Asn440Thr) c.1310A>C (p.Asn437Thr) c.1280A>C (p.Asn427Thr) | |
| 5 | g.139325471A>G | CA361146078 | MATR3 | c.2180A>G (p.Asn727Ser) c.2324A>G (p.Asn775Ser) n.1633A>G c.1166A>G (p.Asn389Ser) c.1316A>G (p.Asn439Ser) n.5900A>G n.358A>G c.488A>G (p.Asn163Ser) c.1319A>G (p.Asn440Ser) c.1310A>G (p.Asn437Ser) c.1280A>G (p.Asn427Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.139325471A>T | CA361146079 | MATR3 | c.2180A>T (p.Asn727Ile) c.2324A>T (p.Asn775Ile) n.1633A>T c.1166A>T (p.Asn389Ile) c.1316A>T (p.Asn439Ile) n.5900A>T n.358A>T c.488A>T (p.Asn163Ile) c.1319A>T (p.Asn440Ile) c.1310A>T (p.Asn437Ile) c.1280A>T (p.Asn427Ile) | |
| 5 | g.139325472C>A | CA361146080 | MATR3 | c.2181C>A (p.Asn727Lys) c.2325C>A (p.Asn775Lys) n.1634C>A c.1167C>A (p.Asn389Lys) c.1317C>A (p.Asn439Lys) n.5901C>A n.359C>A c.489C>A (p.Asn163Lys) c.1320C>A (p.Asn440Lys) c.1311C>A (p.Asn437Lys) c.1281C>A (p.Asn427Lys) | |
| 5 | g.139325472C= | CA1586264953 | MATR3 | c.2181C= (p.Asn727=) c.2325C= (p.Asn775=) n.1634C= c.1167C= (p.Asn389=) c.1317C= (p.Asn439=) n.5901C= n.359C= c.489C= (p.Asn163=) c.1320C= (p.Asn440=) c.1311C= (p.Asn437=) c.1281C= (p.Asn427=) | |
| 5 | g.139325472C>G | CA361146081 | MATR3 | c.2181C>G (p.Asn727Lys) c.2325C>G (p.Asn775Lys) n.1634C>G c.1167C>G (p.Asn389Lys) c.1317C>G (p.Asn439Lys) n.5901C>G n.359C>G c.489C>G (p.Asn163Lys) c.1320C>G (p.Asn440Lys) c.1311C>G (p.Asn437Lys) c.1281C>G (p.Asn427Lys) | ClinVar dbSNP |
| 5 | g.139325472C>T | CA3433380 | MATR3 | c.2181C>T (p.Asn727=) c.2325C>T (p.Asn775=) n.1634C>T c.1167C>T (p.Asn389=) c.1317C>T (p.Asn439=) n.5901C>T n.359C>T c.489C>T (p.Asn163=) c.1320C>T (p.Asn440=) c.1311C>T (p.Asn437=) c.1281C>T (p.Asn427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325473G>A | CA361146083 | MATR3 | c.2182G>A (p.Glu728Lys) c.2326G>A (p.Glu776Lys) n.1635G>A c.1168G>A (p.Glu390Lys) c.1318G>A (p.Glu440Lys) n.5902G>A n.360G>A c.490G>A (p.Glu164Lys) c.1321G>A (p.Glu441Lys) c.1312G>A (p.Glu438Lys) c.1282G>A (p.Glu428Lys) | gnomAD v4 |
| 5 | g.139325473G>C | CA361146087 | MATR3 | c.2182G>C (p.Glu728Gln) c.2326G>C (p.Glu776Gln) n.1635G>C c.1168G>C (p.Glu390Gln) c.1318G>C (p.Glu440Gln) n.5902G>C n.360G>C c.490G>C (p.Glu164Gln) c.1321G>C (p.Glu441Gln) c.1312G>C (p.Glu438Gln) c.1282G>C (p.Glu428Gln) | |
| 5 | g.139325473G>T | CA361146085 | MATR3 | c.2182G>T (p.Glu728Ter) c.2326G>T (p.Glu776Ter) n.1635G>T c.1168G>T (p.Glu390Ter) c.1318G>T (p.Glu440Ter) n.5902G>T n.360G>T c.490G>T (p.Glu164Ter) c.1321G>T (p.Glu441Ter) c.1312G>T (p.Glu438Ter) c.1282G>T (p.Glu428Ter) | |
| 5 | g.139325474A= | CA1586264957 | MATR3 | c.2183A= (p.Glu728=) c.2327A= (p.Glu776=) n.1636A= c.1169A= (p.Glu390=) c.1319A= (p.Glu440=) n.5903A= n.361A= c.491A= (p.Glu164=) c.1322A= (p.Glu441=) c.1313A= (p.Glu438=) c.1283A= (p.Glu428=) | |
| 5 | g.139325474A>C | CA361146088 | MATR3 | c.2183A>C (p.Glu728Ala) c.2327A>C (p.Glu776Ala) n.1636A>C c.1169A>C (p.Glu390Ala) c.1319A>C (p.Glu440Ala) n.5903A>C n.361A>C c.491A>C (p.Glu164Ala) c.1322A>C (p.Glu441Ala) c.1313A>C (p.Glu438Ala) c.1283A>C (p.Glu428Ala) | |
| 5 | g.139325474A>G | CA361146090 | MATR3 | c.2183A>G (p.Glu728Gly) c.2327A>G (p.Glu776Gly) n.1636A>G c.1169A>G (p.Glu390Gly) c.1319A>G (p.Glu440Gly) n.5903A>G n.361A>G c.491A>G (p.Glu164Gly) c.1322A>G (p.Glu441Gly) c.1313A>G (p.Glu438Gly) c.1283A>G (p.Glu428Gly) | |
| 5 | g.139325474A>T | CA128240891 | MATR3 | c.2183A>T (p.Glu728Val) c.2327A>T (p.Glu776Val) n.1636A>T c.1169A>T (p.Glu390Val) c.1319A>T (p.Glu440Val) n.5903A>T n.361A>T c.491A>T (p.Glu164Val) c.1322A>T (p.Glu441Val) c.1313A>T (p.Glu438Val) c.1283A>T (p.Glu428Val) | dbSNP gnomAD v4 |
| 5 | g.139325475A>C | CA361146093 | MATR3 | c.2184A>C (p.Glu728Asp) c.2328A>C (p.Glu776Asp) n.1637A>C c.1170A>C (p.Glu390Asp) c.1320A>C (p.Glu440Asp) n.5904A>C n.362A>C c.492A>C (p.Glu164Asp) c.1323A>C (p.Glu441Asp) c.1314A>C (p.Glu438Asp) c.1284A>C (p.Glu428Asp) | |
| 5 | g.139325475A>G | CA446793454 | MATR3 | c.2184A>G (p.Glu728=) c.2328A>G (p.Glu776=) n.1637A>G c.1170A>G (p.Glu390=) c.1320A>G (p.Glu440=) n.5904A>G n.362A>G c.492A>G (p.Glu164=) c.1323A>G (p.Glu441=) c.1314A>G (p.Glu438=) c.1284A>G (p.Glu428=) | |
| 5 | g.139325475A>T | CA361146094 | MATR3 | c.2184A>T (p.Glu728Asp) c.2328A>T (p.Glu776Asp) n.1637A>T c.1170A>T (p.Glu390Asp) c.1320A>T (p.Glu440Asp) n.5904A>T n.362A>T c.492A>T (p.Glu164Asp) c.1323A>T (p.Glu441Asp) c.1314A>T (p.Glu438Asp) c.1284A>T (p.Glu428Asp) | |
| 5 | g.139325476G>A | CA361146095 | MATR3 | c.2185G>A (p.Ala729Thr) c.2329G>A (p.Ala777Thr) n.1638G>A c.1171G>A (p.Ala391Thr) c.1321G>A (p.Ala441Thr) n.5905G>A n.363G>A c.493G>A (p.Ala165Thr) c.1324G>A (p.Ala442Thr) c.1315G>A (p.Ala439Thr) c.1285G>A (p.Ala429Thr) | ClinVar gnomAD v4 |
| 5 | g.139325476G>C | CA361146097 | MATR3 | c.2185G>C (p.Ala729Pro) c.2329G>C (p.Ala777Pro) n.1638G>C c.1171G>C (p.Ala391Pro) c.1321G>C (p.Ala441Pro) n.5905G>C n.363G>C c.493G>C (p.Ala165Pro) c.1324G>C (p.Ala442Pro) c.1315G>C (p.Ala439Pro) c.1285G>C (p.Ala429Pro) | gnomAD v4 |
| 5 | g.139325476G>T | CA361146098 | MATR3 | c.2185G>T (p.Ala729Ser) c.2329G>T (p.Ala777Ser) n.1638G>T c.1171G>T (p.Ala391Ser) c.1321G>T (p.Ala441Ser) n.5905G>T n.363G>T c.493G>T (p.Ala165Ser) c.1324G>T (p.Ala442Ser) c.1315G>T (p.Ala439Ser) c.1285G>T (p.Ala429Ser) | |
| 5 | g.139325477C>A | CA361146099 | MATR3 | c.2186C>A (p.Ala729Glu) c.2330C>A (p.Ala777Glu) n.1639C>A c.1172C>A (p.Ala391Glu) c.1322C>A (p.Ala441Glu) n.5906C>A n.364C>A c.494C>A (p.Ala165Glu) c.1325C>A (p.Ala442Glu) c.1316C>A (p.Ala439Glu) c.1286C>A (p.Ala429Glu) | |
| 5 | g.139325477C= | CA1586264960 | MATR3 | c.2186C= (p.Ala729=) c.2330C= (p.Ala777=) n.1639C= c.1172C= (p.Ala391=) c.1322C= (p.Ala441=) n.5906C= n.364C= c.494C= (p.Ala165=) c.1325C= (p.Ala442=) c.1316C= (p.Ala439=) c.1286C= (p.Ala429=) | |
| 5 | g.139325477C>G | CA361146100 | MATR3 | c.2186C>G (p.Ala729Gly) c.2330C>G (p.Ala777Gly) n.1639C>G c.1172C>G (p.Ala391Gly) c.1322C>G (p.Ala441Gly) n.5906C>G n.364C>G c.494C>G (p.Ala165Gly) c.1325C>G (p.Ala442Gly) c.1316C>G (p.Ala439Gly) c.1286C>G (p.Ala429Gly) | |
| 5 | g.139325477C>T | CA361146101 | MATR3 | c.2186C>T (p.Ala729Val) c.2330C>T (p.Ala777Val) n.1639C>T c.1172C>T (p.Ala391Val) c.1322C>T (p.Ala441Val) n.5906C>T n.364C>T c.494C>T (p.Ala165Val) c.1325C>T (p.Ala442Val) c.1316C>T (p.Ala439Val) c.1286C>T (p.Ala429Val) | dbSNP |
| 5 | g.139325478A= | CA1586264962 | MATR3 | c.2187A= (p.Ala729=) c.2331A= (p.Ala777=) n.1640A= c.1173A= (p.Ala391=) c.1323A= (p.Ala441=) n.5907A= n.365A= c.495A= (p.Ala165=) c.1326A= (p.Ala442=) c.1317A= (p.Ala439=) c.1287A= (p.Ala429=) | |
| 5 | g.139325478A>C | CA446793456 | MATR3 | c.2187A>C (p.Ala729=) c.2331A>C (p.Ala777=) n.1640A>C c.1173A>C (p.Ala391=) c.1323A>C (p.Ala441=) n.5907A>C n.365A>C c.495A>C (p.Ala165=) c.1326A>C (p.Ala442=) c.1317A>C (p.Ala439=) c.1287A>C (p.Ala429=) | |
| 5 | g.139325478A>G | CA128240895 | MATR3 | c.2187A>G (p.Ala729=) c.2331A>G (p.Ala777=) n.1640A>G c.1173A>G (p.Ala391=) c.1323A>G (p.Ala441=) n.5907A>G n.365A>G c.495A>G (p.Ala165=) c.1326A>G (p.Ala442=) c.1317A>G (p.Ala439=) c.1287A>G (p.Ala429=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325478A>T | CA446793457 | MATR3 | c.2187A>T (p.Ala729=) c.2331A>T (p.Ala777=) n.1640A>T c.1173A>T (p.Ala391=) c.1323A>T (p.Ala441=) n.5907A>T n.365A>T c.495A>T (p.Ala165=) c.1326A>T (p.Ala442=) c.1317A>T (p.Ala439=) c.1287A>T (p.Ala429=) | |
| 5 | g.139325479G>A | CA361146106 | MATR3 | c.2188G>A (p.Ala730Thr) c.2332G>A (p.Ala778Thr) n.1641G>A c.1174G>A (p.Ala392Thr) c.1324G>A (p.Ala442Thr) n.5908G>A n.366G>A c.496G>A (p.Ala166Thr) c.1327G>A (p.Ala443Thr) c.1318G>A (p.Ala440Thr) c.1288G>A (p.Ala430Thr) | |
| 5 | g.139325479G>C | CA361146105 | MATR3 | c.2188G>C (p.Ala730Pro) c.2332G>C (p.Ala778Pro) n.1641G>C c.1174G>C (p.Ala392Pro) c.1324G>C (p.Ala442Pro) n.5908G>C n.366G>C c.496G>C (p.Ala166Pro) c.1327G>C (p.Ala443Pro) c.1318G>C (p.Ala440Pro) c.1288G>C (p.Ala430Pro) | |
| 5 | g.139325479G>T | CA361146104 | MATR3 | c.2188G>T (p.Ala730Ser) c.2332G>T (p.Ala778Ser) n.1641G>T c.1174G>T (p.Ala392Ser) c.1324G>T (p.Ala442Ser) n.5908G>T n.366G>T c.496G>T (p.Ala166Ser) c.1327G>T (p.Ala443Ser) c.1318G>T (p.Ala440Ser) c.1288G>T (p.Ala430Ser) | |
| 5 | g.139325480C>A | CA361146107 | MATR3 | c.2189C>A (p.Ala730Glu) c.2333C>A (p.Ala778Glu) n.1642C>A c.1175C>A (p.Ala392Glu) c.1325C>A (p.Ala442Glu) n.5909C>A n.367C>A c.497C>A (p.Ala166Glu) c.1328C>A (p.Ala443Glu) c.1319C>A (p.Ala440Glu) c.1289C>A (p.Ala430Glu) | gnomAD v4 |
| 5 | g.139325480C= | CA1586264966 | MATR3 | c.2189C= (p.Ala730=) c.2333C= (p.Ala778=) n.1642C= c.1175C= (p.Ala392=) c.1325C= (p.Ala442=) n.5909C= n.367C= c.497C= (p.Ala166=) c.1328C= (p.Ala443=) c.1319C= (p.Ala440=) c.1289C= (p.Ala430=) | |
| 5 | g.139325480C>G | CA361146110 | MATR3 | c.2189C>G (p.Ala730Gly) c.2333C>G (p.Ala778Gly) n.1642C>G c.1175C>G (p.Ala392Gly) c.1325C>G (p.Ala442Gly) n.5909C>G n.367C>G c.497C>G (p.Ala166Gly) c.1328C>G (p.Ala443Gly) c.1319C>G (p.Ala440Gly) c.1289C>G (p.Ala430Gly) | ClinVar dbSNP |
| 5 | g.139325480C>T | CA3433381 | MATR3 | c.2189C>T (p.Ala730Val) c.2333C>T (p.Ala778Val) n.1642C>T c.1175C>T (p.Ala392Val) c.1325C>T (p.Ala442Val) n.5909C>T n.367C>T c.497C>T (p.Ala166Val) c.1328C>T (p.Ala443Val) c.1319C>T (p.Ala440Val) c.1289C>T (p.Ala430Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325481G>A | CA3433382 | MATR3 | c.2190G>A (p.Ala730=) c.2334G>A (p.Ala778=) n.1643G>A c.1176G>A (p.Ala392=) c.1326G>A (p.Ala442=) n.5910G>A n.368G>A c.498G>A (p.Ala166=) c.1329G>A (p.Ala443=) c.1320G>A (p.Ala440=) c.1290G>A (p.Ala430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.139325481G>C | CA446793459 | MATR3 | c.2190G>C (p.Ala730=) c.2334G>C (p.Ala778=) n.1643G>C c.1176G>C (p.Ala392=) c.1326G>C (p.Ala442=) n.5910G>C n.368G>C c.498G>C (p.Ala166=) c.1329G>C (p.Ala443=) c.1320G>C (p.Ala440=) c.1290G>C (p.Ala430=) | |
| 5 | g.139325481G= | CA1586264971 | MATR3 | c.2190G= (p.Ala730=) c.2334G= (p.Ala778=) n.1643G= c.1176G= (p.Ala392=) c.1326G= (p.Ala442=) n.5910G= n.368G= c.498G= (p.Ala166=) c.1329G= (p.Ala443=) c.1320G= (p.Ala440=) c.1290G= (p.Ala430=) | |
| 5 | g.139325481G>T | CA446793460 | MATR3 | c.2190G>T (p.Ala730=) c.2334G>T (p.Ala778=) n.1643G>T c.1176G>T (p.Ala392=) c.1326G>T (p.Ala442=) n.5910G>T n.368G>T c.498G>T (p.Ala166=) c.1329G>T (p.Ala443=) c.1320G>T (p.Ala440=) c.1290G>T (p.Ala430=) | dbSNP gnomAD v4 |
| 5 | g.139325482T>A | CA361146112 | MATR3 | c.2191T>A (p.Leu731Met) c.2335T>A (p.Leu779Met) n.1644T>A c.1177T>A (p.Leu393Met) c.1327T>A (p.Leu443Met) n.5911T>A n.369T>A c.499T>A (p.Leu167Met) c.1330T>A (p.Leu444Met) c.1321T>A (p.Leu441Met) c.1291T>A (p.Leu431Met) | |
| 5 | g.139325482T>C | CA3433383 | MATR3 | c.2191T>C (p.Leu731=) c.2335T>C (p.Leu779=) n.1644T>C c.1177T>C (p.Leu393=) c.1327T>C (p.Leu443=) n.5911T>C n.369T>C c.499T>C (p.Leu167=) c.1330T>C (p.Leu444=) c.1321T>C (p.Leu441=) c.1291T>C (p.Leu431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325482T>G | CA361146113 | MATR3 | c.2191T>G (p.Leu731Val) c.2335T>G (p.Leu779Val) n.1644T>G c.1177T>G (p.Leu393Val) c.1327T>G (p.Leu443Val) n.5911T>G n.369T>G c.499T>G (p.Leu167Val) c.1330T>G (p.Leu444Val) c.1321T>G (p.Leu441Val) c.1291T>G (p.Leu431Val) | |
| 5 | g.139325482T= | CA1586264976 | MATR3 | c.2191T= (p.Leu731=) c.2335T= (p.Leu779=) n.1644T= c.1177T= (p.Leu393=) c.1327T= (p.Leu443=) n.5911T= n.369T= c.499T= (p.Leu167=) c.1330T= (p.Leu444=) c.1321T= (p.Leu441=) c.1291T= (p.Leu431=) | |
| 5 | g.139325483T>A | CA361146116 | MATR3 | c.2192T>A (p.Leu731Ter) c.2336T>A (p.Leu779Ter) n.1645T>A c.1178T>A (p.Leu393Ter) c.1328T>A (p.Leu443Ter) n.5912T>A n.370T>A c.500T>A (p.Leu167Ter) c.1331T>A (p.Leu444Ter) c.1322T>A (p.Leu441Ter) c.1292T>A (p.Leu431Ter) | |
| 5 | g.139325483T>C | CA361146118 | MATR3 | c.2192T>C (p.Leu731Ser) c.2336T>C (p.Leu779Ser) n.1645T>C c.1178T>C (p.Leu393Ser) c.1328T>C (p.Leu443Ser) n.5912T>C n.370T>C c.500T>C (p.Leu167Ser) c.1331T>C (p.Leu444Ser) c.1322T>C (p.Leu441Ser) c.1292T>C (p.Leu431Ser) | |
| 5 | g.139325483T>G | CA361146119 | MATR3 | c.2192T>G (p.Leu731Trp) c.2336T>G (p.Leu779Trp) n.1645T>G c.1178T>G (p.Leu393Trp) c.1328T>G (p.Leu443Trp) n.5912T>G n.370T>G c.500T>G (p.Leu167Trp) c.1331T>G (p.Leu444Trp) c.1322T>G (p.Leu441Trp) c.1292T>G (p.Leu431Trp) | ClinVar gnomAD v4 |
| 5 | g.139325484G>A | CA128240920 | MATR3 | c.2193G>A (p.Leu731=) c.2337G>A (p.Leu779=) n.1646G>A c.1179G>A (p.Leu393=) c.1329G>A (p.Leu443=) n.5913G>A n.371G>A c.501G>A (p.Leu167=) c.1332G>A (p.Leu444=) c.1323G>A (p.Leu441=) c.1293G>A (p.Leu431=) | dbSNP gnomAD v4 |
| 5 | g.139325484G>C | CA361146121 | MATR3 | c.2193G>C (p.Leu731Phe) c.2337G>C (p.Leu779Phe) n.1646G>C c.1179G>C (p.Leu393Phe) c.1329G>C (p.Leu443Phe) n.5913G>C n.371G>C c.501G>C (p.Leu167Phe) c.1332G>C (p.Leu444Phe) c.1323G>C (p.Leu441Phe) c.1293G>C (p.Leu431Phe) | gnomAD v4 |
| 5 | g.139325484G= | CA1586264980 | MATR3 | c.2193G= (p.Leu731=) c.2337G= (p.Leu779=) n.1646G= c.1179G= (p.Leu393=) c.1329G= (p.Leu443=) n.5913G= n.371G= c.501G= (p.Leu167=) c.1332G= (p.Leu444=) c.1323G= (p.Leu441=) c.1293G= (p.Leu431=) | |
| 5 | g.139325484G>T | CA361146123 | MATR3 | c.2193G>T (p.Leu731Phe) c.2337G>T (p.Leu779Phe) n.1646G>T c.1179G>T (p.Leu393Phe) c.1329G>T (p.Leu443Phe) n.5913G>T n.371G>T c.501G>T (p.Leu167Phe) c.1332G>T (p.Leu444Phe) c.1323G>T (p.Leu441Phe) c.1293G>T (p.Leu431Phe) | |
| 5 | g.139325485G>A | CA3433384 | MATR3 | c.2194G>A (p.Glu732Lys) c.2338G>A (p.Glu780Lys) n.1647G>A c.1180G>A (p.Glu394Lys) c.1330G>A (p.Glu444Lys) n.5914G>A n.372G>A c.502G>A (p.Glu168Lys) c.1333G>A (p.Glu445Lys) c.1324G>A (p.Glu442Lys) c.1294G>A (p.Glu432Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325485G>C | CA361146124 | MATR3 | c.2194G>C (p.Glu732Gln) c.2338G>C (p.Glu780Gln) n.1647G>C c.1180G>C (p.Glu394Gln) c.1330G>C (p.Glu444Gln) n.5914G>C n.372G>C c.502G>C (p.Glu168Gln) c.1333G>C (p.Glu445Gln) c.1324G>C (p.Glu442Gln) c.1294G>C (p.Glu432Gln) | |
| 5 | g.139325485G= | CA1586264982 | MATR3 | c.2194G= (p.Glu732=) c.2338G= (p.Glu780=) n.1647G= c.1180G= (p.Glu394=) c.1330G= (p.Glu444=) n.5914G= n.372G= c.502G= (p.Glu168=) c.1333G= (p.Glu445=) c.1324G= (p.Glu442=) c.1294G= (p.Glu432=) | |
| 5 | g.139325485G>T | CA361146126 | MATR3 | c.2194G>T (p.Glu732Ter) c.2338G>T (p.Glu780Ter) n.1647G>T c.1180G>T (p.Glu394Ter) c.1330G>T (p.Glu444Ter) n.5914G>T n.372G>T c.502G>T (p.Glu168Ter) c.1333G>T (p.Glu445Ter) c.1324G>T (p.Glu442Ter) c.1294G>T (p.Glu432Ter) | |
| 5 | g.139325486A>C | CA361146127 | MATR3 | c.2195A>C (p.Glu732Ala) c.2339A>C (p.Glu780Ala) n.1648A>C c.1181A>C (p.Glu394Ala) c.1331A>C (p.Glu444Ala) n.5915A>C n.373A>C c.503A>C (p.Glu168Ala) c.1334A>C (p.Glu445Ala) c.1325A>C (p.Glu442Ala) c.1295A>C (p.Glu432Ala) | |
| 5 | g.139325486A>G | CA361146129 | MATR3 | c.2195A>G (p.Glu732Gly) c.2339A>G (p.Glu780Gly) n.1648A>G c.1181A>G (p.Glu394Gly) c.1331A>G (p.Glu444Gly) n.5915A>G n.373A>G c.503A>G (p.Glu168Gly) c.1334A>G (p.Glu445Gly) c.1325A>G (p.Glu442Gly) c.1295A>G (p.Glu432Gly) | |
| 5 | g.139325486A>T | CA361146130 | MATR3 | c.2195A>T (p.Glu732Val) c.2339A>T (p.Glu780Val) n.1648A>T c.1181A>T (p.Glu394Val) c.1331A>T (p.Glu444Val) n.5915A>T n.373A>T c.503A>T (p.Glu168Val) c.1334A>T (p.Glu445Val) c.1325A>T (p.Glu442Val) c.1295A>T (p.Glu432Val) | |
| 5 | g.139325487A= | CA1586264984 | MATR3 | c.2196A= (p.Glu732=) c.2340A= (p.Glu780=) n.1649A= c.1182A= (p.Glu394=) c.1332A= (p.Glu444=) n.5916A= n.374A= c.504A= (p.Glu168=) c.1335A= (p.Glu445=) c.1326A= (p.Glu442=) c.1296A= (p.Glu432=) | |
| 5 | g.139325487A>C | CA361146135 | MATR3 | c.2196A>C (p.Glu732Asp) c.2340A>C (p.Glu780Asp) n.1649A>C c.1182A>C (p.Glu394Asp) c.1332A>C (p.Glu444Asp) n.5916A>C n.374A>C c.504A>C (p.Glu168Asp) c.1335A>C (p.Glu445Asp) c.1326A>C (p.Glu442Asp) c.1296A>C (p.Glu432Asp) | |
| 5 | g.139325487A>G | CA3433385 | MATR3 | c.2196A>G (p.Glu732=) c.2340A>G (p.Glu780=) n.1649A>G c.1182A>G (p.Glu394=) c.1332A>G (p.Glu444=) n.5916A>G n.374A>G c.504A>G (p.Glu168=) c.1335A>G (p.Glu445=) c.1326A>G (p.Glu442=) c.1296A>G (p.Glu432=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325487A>T | CA361146133 | MATR3 | c.2196A>T (p.Glu732Asp) c.2340A>T (p.Glu780Asp) n.1649A>T c.1182A>T (p.Glu394Asp) c.1332A>T (p.Glu444Asp) n.5916A>T n.374A>T c.504A>T (p.Glu168Asp) c.1335A>T (p.Glu445Asp) c.1326A>T (p.Glu442Asp) c.1296A>T (p.Glu432Asp) | |
| 5 | g.139325488A= | CA1586264989 | MATR3 | c.2197A= (p.Asn733=) c.2341A= (p.Asn781=) n.1650A= c.1183A= (p.Asn395=) c.1333A= (p.Asn445=) n.5917A= n.375A= c.505A= (p.Asn169=) c.1336A= (p.Asn446=) c.1327A= (p.Asn443=) c.1297A= (p.Asn433=) | |
| 5 | g.139325488A>C | CA361146136 | MATR3 | c.2197A>C (p.Asn733His) c.2341A>C (p.Asn781His) n.1650A>C c.1183A>C (p.Asn395His) c.1333A>C (p.Asn445His) n.5917A>C n.375A>C c.505A>C (p.Asn169His) c.1336A>C (p.Asn446His) c.1327A>C (p.Asn443His) c.1297A>C (p.Asn433His) | |
| 5 | g.139325488A>G | CA128240938 | MATR3 | c.2197A>G (p.Asn733Asp) c.2341A>G (p.Asn781Asp) n.1650A>G c.1183A>G (p.Asn395Asp) c.1333A>G (p.Asn445Asp) n.5917A>G n.375A>G c.505A>G (p.Asn169Asp) c.1336A>G (p.Asn446Asp) c.1327A>G (p.Asn443Asp) c.1297A>G (p.Asn433Asp) | dbSNP gnomAD v4 |
| 5 | g.139325488A>T | CA361146139 | MATR3 | c.2197A>T (p.Asn733Tyr) c.2341A>T (p.Asn781Tyr) n.1650A>T c.1183A>T (p.Asn395Tyr) c.1333A>T (p.Asn445Tyr) n.5917A>T n.375A>T c.505A>T (p.Asn169Tyr) c.1336A>T (p.Asn446Tyr) c.1327A>T (p.Asn443Tyr) c.1297A>T (p.Asn433Tyr) | |
| 5 | g.139325489A= | CA1586264991 | MATR3 | c.2198A= (p.Asn733=) c.2342A= (p.Asn781=) n.1651A= c.1184A= (p.Asn395=) c.1334A= (p.Asn445=) n.5918A= n.376A= c.506A= (p.Asn169=) c.1337A= (p.Asn446=) c.1328A= (p.Asn443=) c.1298A= (p.Asn433=) | |
| 5 | g.139325489A>C | CA361146141 | MATR3 | c.2198A>C (p.Asn733Thr) c.2342A>C (p.Asn781Thr) n.1651A>C c.1184A>C (p.Asn395Thr) c.1334A>C (p.Asn445Thr) n.5918A>C n.376A>C c.506A>C (p.Asn169Thr) c.1337A>C (p.Asn446Thr) c.1328A>C (p.Asn443Thr) c.1298A>C (p.Asn433Thr) | dbSNP gnomAD v4 |
| 5 | g.139325489A>G | CA3433386 | MATR3 | c.2198A>G (p.Asn733Ser) c.2342A>G (p.Asn781Ser) n.1651A>G c.1184A>G (p.Asn395Ser) c.1334A>G (p.Asn445Ser) n.5918A>G n.376A>G c.506A>G (p.Asn169Ser) c.1337A>G (p.Asn446Ser) c.1328A>G (p.Asn443Ser) c.1298A>G (p.Asn433Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.139325489A>T | CA361146143 | MATR3 | c.2198A>T (p.Asn733Ile) c.2342A>T (p.Asn781Ile) n.1651A>T c.1184A>T (p.Asn395Ile) c.1334A>T (p.Asn445Ile) n.5918A>T n.376A>T c.506A>T (p.Asn169Ile) c.1337A>T (p.Asn446Ile) c.1328A>T (p.Asn443Ile) c.1298A>T (p.Asn433Ile) | |
| 5 | g.139325490T>A | CA361146145 | MATR3 | c.2199T>A (p.Asn733Lys) c.2343T>A (p.Asn781Lys) n.1652T>A c.1185T>A (p.Asn395Lys) c.1335T>A (p.Asn445Lys) n.5919T>A n.377T>A c.507T>A (p.Asn169Lys) c.1338T>A (p.Asn446Lys) c.1329T>A (p.Asn443Lys) c.1299T>A (p.Asn433Lys) | |
| 5 | g.139325490T>C | CA446793541 | MATR3 | c.2199T>C (p.Asn733=) c.2343T>C (p.Asn781=) n.1652T>C c.1185T>C (p.Asn395=) c.1335T>C (p.Asn445=) n.5919T>C n.377T>C c.507T>C (p.Asn169=) c.1338T>C (p.Asn446=) c.1329T>C (p.Asn443=) c.1299T>C (p.Asn433=) | ClinVar gnomAD v4 |
| 5 | g.139325490T>G | CA361146147 | MATR3 | c.2199T>G (p.Asn733Lys) c.2343T>G (p.Asn781Lys) n.1652T>G c.1185T>G (p.Asn395Lys) c.1335T>G (p.Asn445Lys) n.5919T>G n.377T>G c.507T>G (p.Asn169Lys) c.1338T>G (p.Asn446Lys) c.1329T>G (p.Asn443Lys) c.1299T>G (p.Asn433Lys) | |
| 5 | g.139325491G>A | CA361146150 | MATR3 | c.2200G>A (p.Gly734Arg) c.2344G>A (p.Gly782Arg) n.1653G>A c.1186G>A (p.Gly396Arg) c.1336G>A (p.Gly446Arg) n.5920G>A n.378G>A c.508G>A (p.Gly170Arg) c.1339G>A (p.Gly447Arg) c.1330G>A (p.Gly444Arg) c.1300G>A (p.Gly434Arg) | |
| 5 | g.139325491G>C | CA361146152 | MATR3 | c.2200G>C (p.Gly734Arg) c.2344G>C (p.Gly782Arg) n.1653G>C c.1186G>C (p.Gly396Arg) c.1336G>C (p.Gly446Arg) n.5920G>C n.378G>C c.508G>C (p.Gly170Arg) c.1339G>C (p.Gly447Arg) c.1330G>C (p.Gly444Arg) c.1300G>C (p.Gly434Arg) | |
| 5 | g.139325491G>T | CA361146154 | MATR3 | c.2200G>T (p.Gly734Ter) c.2344G>T (p.Gly782Ter) n.1653G>T c.1186G>T (p.Gly396Ter) c.1336G>T (p.Gly446Ter) n.5920G>T n.378G>T c.508G>T (p.Gly170Ter) c.1339G>T (p.Gly447Ter) c.1330G>T (p.Gly444Ter) c.1300G>T (p.Gly434Ter) | |
| 5 | g.139325492G>A | CA361146157 | MATR3 | c.2201G>A (p.Gly734Glu) c.2345G>A (p.Gly782Glu) n.1654G>A c.1187G>A (p.Gly396Glu) c.1337G>A (p.Gly446Glu) n.5921G>A n.379G>A c.509G>A (p.Gly170Glu) c.1340G>A (p.Gly447Glu) c.1331G>A (p.Gly444Glu) c.1301G>A (p.Gly434Glu) | gnomAD v4 |
| 5 | g.139325492G>C | CA361146158 | MATR3 | c.2201G>C (p.Gly734Ala) c.2345G>C (p.Gly782Ala) n.1654G>C c.1187G>C (p.Gly396Ala) c.1337G>C (p.Gly446Ala) n.5921G>C n.379G>C c.509G>C (p.Gly170Ala) c.1340G>C (p.Gly447Ala) c.1331G>C (p.Gly444Ala) c.1301G>C (p.Gly434Ala) | |
| 5 | g.139325492G>T | CA361146156 | MATR3 | c.2201G>T (p.Gly734Val) c.2345G>T (p.Gly782Val) n.1654G>T c.1187G>T (p.Gly396Val) c.1337G>T (p.Gly446Val) n.5921G>T n.379G>T c.509G>T (p.Gly170Val) c.1340G>T (p.Gly447Val) c.1331G>T (p.Gly444Val) c.1301G>T (p.Gly434Val) | |
| 5 | g.139325493A= | CA1586264994 | MATR3 | c.2202A= (p.Gly734=) c.2346A= (p.Gly782=) n.1655A= c.1188A= (p.Gly396=) c.1338A= (p.Gly446=) n.5922A= n.380A= c.510A= (p.Gly170=) c.1341A= (p.Gly447=) c.1332A= (p.Gly444=) c.1302A= (p.Gly434=) | |
| 5 | g.139325493A>C | CA446793543 | MATR3 | c.2202A>C (p.Gly734=) c.2346A>C (p.Gly782=) n.1655A>C c.1188A>C (p.Gly396=) c.1338A>C (p.Gly446=) n.5922A>C n.380A>C c.510A>C (p.Gly170=) c.1341A>C (p.Gly447=) c.1332A>C (p.Gly444=) c.1302A>C (p.Gly434=) | |
| 5 | g.139325493A>G | CA3433387 | MATR3 | c.2202A>G (p.Gly734=) c.2346A>G (p.Gly782=) n.1655A>G c.1188A>G (p.Gly396=) c.1338A>G (p.Gly446=) n.5922A>G n.380A>G c.510A>G (p.Gly170=) c.1341A>G (p.Gly447=) c.1332A>G (p.Gly444=) c.1302A>G (p.Gly434=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325493A>T | CA446793544 | MATR3 | c.2202A>T (p.Gly734=) c.2346A>T (p.Gly782=) n.1655A>T c.1188A>T (p.Gly396=) c.1338A>T (p.Gly446=) n.5922A>T n.380A>T c.510A>T (p.Gly170=) c.1341A>T (p.Gly447=) c.1332A>T (p.Gly444=) c.1302A>T (p.Gly434=) | gnomAD v4 |
| 5 | g.139325494A= | CA1586264996 | MATR3 | c.2203A= (p.Ile735=) c.2347A= (p.Ile783=) n.1656A= c.1189A= (p.Ile397=) c.1339A= (p.Ile447=) n.5923A= n.381A= c.511A= (p.Ile171=) c.1342A= (p.Ile448=) c.1333A= (p.Ile445=) c.1303A= (p.Ile435=) | |
| 5 | g.139325494A>C | CA3433388 | MATR3 | c.2203A>C (p.Ile735Leu) c.2347A>C (p.Ile783Leu) n.1656A>C c.1189A>C (p.Ile397Leu) c.1339A>C (p.Ile447Leu) n.5923A>C n.381A>C c.511A>C (p.Ile171Leu) c.1342A>C (p.Ile448Leu) c.1333A>C (p.Ile445Leu) c.1303A>C (p.Ile435Leu) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.139325494A>G | CA361146161 | MATR3 | c.2203A>G (p.Ile735Val) c.2347A>G (p.Ile783Val) n.1656A>G c.1189A>G (p.Ile397Val) c.1339A>G (p.Ile447Val) n.5923A>G n.381A>G c.511A>G (p.Ile171Val) c.1342A>G (p.Ile448Val) c.1333A>G (p.Ile445Val) c.1303A>G (p.Ile435Val) | ClinVar |
| 5 | g.139325494A>T | CA361146163 | MATR3 | c.2203A>T (p.Ile735Phe) c.2347A>T (p.Ile783Phe) n.1656A>T c.1189A>T (p.Ile397Phe) c.1339A>T (p.Ile447Phe) n.5923A>T n.381A>T c.511A>T (p.Ile171Phe) c.1342A>T (p.Ile448Phe) c.1333A>T (p.Ile445Phe) c.1303A>T (p.Ile435Phe) | |
| 5 | g.139325495T>A | CA361146164 | MATR3 | c.2204T>A (p.Ile735Asn) c.2348T>A (p.Ile783Asn) n.1657T>A c.1190T>A (p.Ile397Asn) c.1340T>A (p.Ile447Asn) n.5924T>A n.382T>A c.512T>A (p.Ile171Asn) c.1343T>A (p.Ile448Asn) c.1334T>A (p.Ile445Asn) c.1304T>A (p.Ile435Asn) | |
| 5 | g.139325495T>C | CA361146166 | MATR3 | c.2204T>C (p.Ile735Thr) c.2348T>C (p.Ile783Thr) n.1657T>C c.1190T>C (p.Ile397Thr) c.1340T>C (p.Ile447Thr) n.5924T>C n.382T>C c.512T>C (p.Ile171Thr) c.1343T>C (p.Ile448Thr) c.1334T>C (p.Ile445Thr) c.1304T>C (p.Ile435Thr) | |
| 5 | g.139325495T>G | CA361146167 | MATR3 | c.2204T>G (p.Ile735Ser) c.2348T>G (p.Ile783Ser) n.1657T>G c.1190T>G (p.Ile397Ser) c.1340T>G (p.Ile447Ser) n.5924T>G n.382T>G c.512T>G (p.Ile171Ser) c.1343T>G (p.Ile448Ser) c.1334T>G (p.Ile445Ser) c.1304T>G (p.Ile435Ser) | |
| 5 | g.139325496T>A | CA446793549 | MATR3 | c.2205T>A (p.Ile735=) c.2349T>A (p.Ile783=) n.1658T>A c.1191T>A (p.Ile397=) c.1341T>A (p.Ile447=) n.5925T>A n.383T>A c.513T>A (p.Ile171=) c.1344T>A (p.Ile448=) c.1335T>A (p.Ile445=) c.1305T>A (p.Ile435=) | |
| 5 | g.139325496T>C | CA446793551 | MATR3 | c.2205T>C (p.Ile735=) c.2349T>C (p.Ile783=) n.1658T>C c.1191T>C (p.Ile397=) c.1341T>C (p.Ile447=) n.5925T>C n.383T>C c.513T>C (p.Ile171=) c.1344T>C (p.Ile448=) c.1335T>C (p.Ile445=) c.1305T>C (p.Ile435=) | dbSNP gnomAD v4 |
| 5 | g.139325496T>G | CA361146169 | MATR3 | c.2205T>G (p.Ile735Met) c.2349T>G (p.Ile783Met) n.1658T>G c.1191T>G (p.Ile397Met) c.1341T>G (p.Ile447Met) n.5925T>G n.383T>G c.513T>G (p.Ile171Met) c.1344T>G (p.Ile448Met) c.1335T>G (p.Ile445Met) c.1305T>G (p.Ile435Met) | |
| 5 | g.139325496T= | CA1586265000 | MATR3 | c.2205T= (p.Ile735=) c.2349T= (p.Ile783=) n.1658T= c.1191T= (p.Ile397=) c.1341T= (p.Ile447=) n.5925T= n.383T= c.513T= (p.Ile171=) c.1344T= (p.Ile448=) c.1335T= (p.Ile445=) c.1305T= (p.Ile435=) | |
| 5 | g.139325497A>C | CA361146170 | MATR3 | c.2206A>C (p.Lys736Gln) c.2350A>C (p.Lys784Gln) n.1659A>C c.1192A>C (p.Lys398Gln) c.1342A>C (p.Lys448Gln) n.5926A>C n.384A>C c.514A>C (p.Lys172Gln) c.1345A>C (p.Lys449Gln) c.1336A>C (p.Lys446Gln) c.1306A>C (p.Lys436Gln) | |
| 5 | g.139325497A>G | CA361146172 | MATR3 | c.2206A>G (p.Lys736Glu) c.2350A>G (p.Lys784Glu) n.1659A>G c.1192A>G (p.Lys398Glu) c.1342A>G (p.Lys448Glu) n.5926A>G n.384A>G c.514A>G (p.Lys172Glu) c.1345A>G (p.Lys449Glu) c.1336A>G (p.Lys446Glu) c.1306A>G (p.Lys436Glu) | |
| 5 | g.139325497A>T | CA361146174 | MATR3 | c.2206A>T (p.Lys736Ter) c.2350A>T (p.Lys784Ter) n.1659A>T c.1192A>T (p.Lys398Ter) c.1342A>T (p.Lys448Ter) n.5926A>T n.384A>T c.514A>T (p.Lys172Ter) c.1345A>T (p.Lys449Ter) c.1336A>T (p.Lys446Ter) c.1306A>T (p.Lys436Ter) | |
| 5 | g.139325498A>C | CA361146178 | MATR3 | c.2207A>C (p.Lys736Thr) c.2351A>C (p.Lys784Thr) n.1660A>C c.1193A>C (p.Lys398Thr) c.1343A>C (p.Lys448Thr) n.5927A>C n.385A>C c.515A>C (p.Lys172Thr) c.1346A>C (p.Lys449Thr) c.1337A>C (p.Lys446Thr) c.1307A>C (p.Lys436Thr) | |
| 5 | g.139325498A>G | CA361146179 | MATR3 | c.2207A>G (p.Lys736Arg) c.2351A>G (p.Lys784Arg) n.1660A>G c.1193A>G (p.Lys398Arg) c.1343A>G (p.Lys448Arg) n.5927A>G n.385A>G c.515A>G (p.Lys172Arg) c.1346A>G (p.Lys449Arg) c.1337A>G (p.Lys446Arg) c.1307A>G (p.Lys436Arg) | |
| 5 | g.139325498A>T | CA361146176 | MATR3 | c.2207A>T (p.Lys736Ile) c.2351A>T (p.Lys784Ile) n.1660A>T c.1193A>T (p.Lys398Ile) c.1343A>T (p.Lys448Ile) n.5927A>T n.385A>T c.515A>T (p.Lys172Ile) c.1346A>T (p.Lys449Ile) c.1337A>T (p.Lys446Ile) c.1307A>T (p.Lys436Ile) | |
| 5 | g.139325499A>C | CA361146181 | MATR3 | c.2208A>C (p.Lys736Asn) c.2352A>C (p.Lys784Asn) n.1661A>C c.1194A>C (p.Lys398Asn) c.1344A>C (p.Lys448Asn) n.5928A>C n.386A>C c.516A>C (p.Lys172Asn) c.1347A>C (p.Lys449Asn) c.1338A>C (p.Lys446Asn) c.1308A>C (p.Lys436Asn) | |
| 5 | g.139325499A>G | CA446793555 | MATR3 | c.2208A>G (p.Lys736=) c.2352A>G (p.Lys784=) n.1661A>G c.1194A>G (p.Lys398=) c.1344A>G (p.Lys448=) n.5928A>G n.386A>G c.516A>G (p.Lys172=) c.1347A>G (p.Lys449=) c.1338A>G (p.Lys446=) c.1308A>G (p.Lys436=) | |
| 5 | g.139325499A>T | CA361146182 | MATR3 | c.2208A>T (p.Lys736Asn) c.2352A>T (p.Lys784Asn) n.1661A>T c.1194A>T (p.Lys398Asn) c.1344A>T (p.Lys448Asn) n.5928A>T n.386A>T c.516A>T (p.Lys172Asn) c.1347A>T (p.Lys449Asn) c.1338A>T (p.Lys446Asn) c.1308A>T (p.Lys436Asn) | |
| 5 | g.139325500A>C | CA361146184 | MATR3 | c.2209A>C (p.Asn737His) c.2353A>C (p.Asn785His) n.1662A>C c.1195A>C (p.Asn399His) c.1345A>C (p.Asn449His) n.5929A>C n.387A>C c.517A>C (p.Asn173His) c.1348A>C (p.Asn450His) c.1339A>C (p.Asn447His) c.1309A>C (p.Asn437His) | |
| 5 | g.139325500A>G | CA361146186 | MATR3 | c.2209A>G (p.Asn737Asp) c.2353A>G (p.Asn785Asp) n.1662A>G c.1195A>G (p.Asn399Asp) c.1345A>G (p.Asn449Asp) n.5929A>G n.387A>G c.517A>G (p.Asn173Asp) c.1348A>G (p.Asn450Asp) c.1339A>G (p.Asn447Asp) c.1309A>G (p.Asn437Asp) | |
| 5 | g.139325500A>T | CA361146187 | MATR3 | c.2209A>T (p.Asn737Tyr) c.2353A>T (p.Asn785Tyr) n.1662A>T c.1195A>T (p.Asn399Tyr) c.1345A>T (p.Asn449Tyr) n.5929A>T n.387A>T c.517A>T (p.Asn173Tyr) c.1348A>T (p.Asn450Tyr) c.1339A>T (p.Asn447Tyr) c.1309A>T (p.Asn437Tyr) | |
| 5 | g.139325501A>C | CA361146192 | MATR3 | c.2210A>C (p.Asn737Thr) c.2354A>C (p.Asn785Thr) n.1663A>C c.1196A>C (p.Asn399Thr) c.1346A>C (p.Asn449Thr) n.5930A>C n.388A>C c.518A>C (p.Asn173Thr) c.1349A>C (p.Asn450Thr) c.1340A>C (p.Asn447Thr) c.1310A>C (p.Asn437Thr) | |
| 5 | g.139325501A>G | CA361146189 | MATR3 | c.2210A>G (p.Asn737Ser) c.2354A>G (p.Asn785Ser) n.1663A>G c.1196A>G (p.Asn399Ser) c.1346A>G (p.Asn449Ser) n.5930A>G n.388A>G c.518A>G (p.Asn173Ser) c.1349A>G (p.Asn450Ser) c.1340A>G (p.Asn447Ser) c.1310A>G (p.Asn437Ser) | gnomAD v4 |
| 5 | g.139325501A>T | CA361146190 | MATR3 | c.2210A>T (p.Asn737Ile) c.2354A>T (p.Asn785Ile) n.1663A>T c.1196A>T (p.Asn399Ile) c.1346A>T (p.Asn449Ile) n.5930A>T n.388A>T c.518A>T (p.Asn173Ile) c.1349A>T (p.Asn450Ile) c.1340A>T (p.Asn447Ile) c.1310A>T (p.Asn437Ile) | |
| 5 | g.139325502T>A | CA361146194 | MATR3 | c.2211T>A (p.Asn737Lys) c.2355T>A (p.Asn785Lys) n.1664T>A c.1197T>A (p.Asn399Lys) c.1347T>A (p.Asn449Lys) n.5931T>A n.389T>A c.519T>A (p.Asn173Lys) c.1350T>A (p.Asn450Lys) c.1341T>A (p.Asn447Lys) c.1311T>A (p.Asn437Lys) | |
| 5 | g.139325502T>C | CA446793557 | MATR3 | c.2211T>C (p.Asn737=) c.2355T>C (p.Asn785=) n.1664T>C c.1197T>C (p.Asn399=) c.1347T>C (p.Asn449=) n.5931T>C n.389T>C c.519T>C (p.Asn173=) c.1350T>C (p.Asn450=) c.1341T>C (p.Asn447=) c.1311T>C (p.Asn437=) | dbSNP gnomAD v4 |
| 5 | g.139325502T>G | CA361146196 | MATR3 | c.2211T>G (p.Asn737Lys) c.2355T>G (p.Asn785Lys) n.1664T>G c.1197T>G (p.Asn399Lys) c.1347T>G (p.Asn449Lys) n.5931T>G n.389T>G c.519T>G (p.Asn173Lys) c.1350T>G (p.Asn450Lys) c.1341T>G (p.Asn447Lys) c.1311T>G (p.Asn437Lys) | |
| 5 | g.139325502T= | CA1586265004 | MATR3 | c.2211T= (p.Asn737=) c.2355T= (p.Asn785=) n.1664T= c.1197T= (p.Asn399=) c.1347T= (p.Asn449=) n.5931T= n.389T= c.519T= (p.Asn173=) c.1350T= (p.Asn450=) c.1341T= (p.Asn447=) c.1311T= (p.Asn437=) | |
| 5 | g.139325503G>A | CA361146197 | MATR3 | c.2212G>A (p.Glu738Lys) c.2356G>A (p.Glu786Lys) n.1665G>A c.1198G>A (p.Glu400Lys) c.1348G>A (p.Glu450Lys) n.5932G>A n.390G>A c.520G>A (p.Glu174Lys) c.1351G>A (p.Glu451Lys) c.1342G>A (p.Glu448Lys) c.1312G>A (p.Glu438Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325503G>C | CA361146199 | MATR3 | c.2212G>C (p.Glu738Gln) c.2356G>C (p.Glu786Gln) n.1665G>C c.1198G>C (p.Glu400Gln) c.1348G>C (p.Glu450Gln) n.5932G>C n.390G>C c.520G>C (p.Glu174Gln) c.1351G>C (p.Glu451Gln) c.1342G>C (p.Glu448Gln) c.1312G>C (p.Glu438Gln) | |
| 5 | g.139325503G>T | CA361146201 | MATR3 | c.2212G>T (p.Glu738Ter) c.2356G>T (p.Glu786Ter) n.1665G>T c.1198G>T (p.Glu400Ter) c.1348G>T (p.Glu450Ter) n.5932G>T n.390G>T c.520G>T (p.Glu174Ter) c.1351G>T (p.Glu451Ter) c.1342G>T (p.Glu448Ter) c.1312G>T (p.Glu438Ter) | |
| 5 | g.139325504A= | CA1586265009 | MATR3 | c.2213A= (p.Glu738=) c.2357A= (p.Glu786=) n.1666A= c.1199A= (p.Glu400=) c.1349A= (p.Glu450=) n.5933A= n.391A= c.521A= (p.Glu174=) c.1352A= (p.Glu451=) c.1343A= (p.Glu448=) c.1313A= (p.Glu438=) | |
| 5 | g.139325504A>C | CA361146205 | MATR3 | c.2213A>C (p.Glu738Ala) c.2357A>C (p.Glu786Ala) n.1666A>C c.1199A>C (p.Glu400Ala) c.1349A>C (p.Glu450Ala) n.5933A>C n.391A>C c.521A>C (p.Glu174Ala) c.1352A>C (p.Glu451Ala) c.1343A>C (p.Glu448Ala) c.1313A>C (p.Glu438Ala) | |
| 5 | g.139325504A>G | CA3433389 | MATR3 | c.2213A>G (p.Glu738Gly) c.2357A>G (p.Glu786Gly) n.1666A>G c.1199A>G (p.Glu400Gly) c.1349A>G (p.Glu450Gly) n.5933A>G n.391A>G c.521A>G (p.Glu174Gly) c.1352A>G (p.Glu451Gly) c.1343A>G (p.Glu448Gly) c.1313A>G (p.Glu438Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325504A>T | CA361146203 | MATR3 | c.2213A>T (p.Glu738Val) c.2357A>T (p.Glu786Val) n.1666A>T c.1199A>T (p.Glu400Val) c.1349A>T (p.Glu450Val) n.5933A>T n.391A>T c.521A>T (p.Glu174Val) c.1352A>T (p.Glu451Val) c.1343A>T (p.Glu448Val) c.1313A>T (p.Glu438Val) | |
| 5 | g.139325505G>A | CA446793559 | MATR3 | c.2214G>A (p.Glu738=) c.2358G>A (p.Glu786=) n.1667G>A c.1200G>A (p.Glu400=) c.1350G>A (p.Glu450=) n.5934G>A n.392G>A c.522G>A (p.Glu174=) c.1353G>A (p.Glu451=) c.1344G>A (p.Glu448=) c.1314G>A (p.Glu438=) | |
| 5 | g.139325505G>C | CA361146207 | MATR3 | c.2214G>C (p.Glu738Asp) c.2358G>C (p.Glu786Asp) n.1667G>C c.1200G>C (p.Glu400Asp) c.1350G>C (p.Glu450Asp) n.5934G>C n.392G>C c.522G>C (p.Glu174Asp) c.1353G>C (p.Glu451Asp) c.1344G>C (p.Glu448Asp) c.1314G>C (p.Glu438Asp) | |
| 5 | g.139325505G>T | CA361146209 | MATR3 | c.2214G>T (p.Glu738Asp) c.2358G>T (p.Glu786Asp) n.1667G>T c.1200G>T (p.Glu400Asp) c.1350G>T (p.Glu450Asp) n.5934G>T n.392G>T c.522G>T (p.Glu174Asp) c.1353G>T (p.Glu451Asp) c.1344G>T (p.Glu448Asp) c.1314G>T (p.Glu438Asp) | |
| 5 | g.139325506G>A | CA361146210 | MATR3 | c.2215G>A (p.Glu739Lys) c.2359G>A (p.Glu787Lys) n.1668G>A c.1201G>A (p.Glu401Lys) c.1351G>A (p.Glu451Lys) n.5935G>A n.393G>A c.523G>A (p.Glu175Lys) c.1354G>A (p.Glu452Lys) c.1345G>A (p.Glu449Lys) c.1315G>A (p.Glu439Lys) | |
| 5 | g.139325506G>C | CA361146212 | MATR3 | c.2215G>C (p.Glu739Gln) c.2359G>C (p.Glu787Gln) n.1668G>C c.1201G>C (p.Glu401Gln) c.1351G>C (p.Glu451Gln) n.5935G>C n.393G>C c.523G>C (p.Glu175Gln) c.1354G>C (p.Glu452Gln) c.1345G>C (p.Glu449Gln) c.1315G>C (p.Glu439Gln) | |
| 5 | g.139325506G>T | CA361146213 | MATR3 | c.2215G>T (p.Glu739Ter) c.2359G>T (p.Glu787Ter) n.1668G>T c.1201G>T (p.Glu401Ter) c.1351G>T (p.Glu451Ter) n.5935G>T n.393G>T c.523G>T (p.Glu175Ter) c.1354G>T (p.Glu452Ter) c.1345G>T (p.Glu449Ter) c.1315G>T (p.Glu439Ter) | |
| 5 | g.139325507A>C | CA361146215 | MATR3 | c.2216A>C (p.Glu739Ala) c.2360A>C (p.Glu787Ala) n.1669A>C c.1202A>C (p.Glu401Ala) c.1352A>C (p.Glu451Ala) n.5936A>C n.394A>C c.524A>C (p.Glu175Ala) c.1355A>C (p.Glu452Ala) c.1346A>C (p.Glu449Ala) c.1316A>C (p.Glu439Ala) | |
| 5 | g.139325507A>G | CA361146216 | MATR3 | c.2216A>G (p.Glu739Gly) c.2360A>G (p.Glu787Gly) n.1669A>G c.1202A>G (p.Glu401Gly) c.1352A>G (p.Glu451Gly) n.5936A>G n.394A>G c.524A>G (p.Glu175Gly) c.1355A>G (p.Glu452Gly) c.1346A>G (p.Glu449Gly) c.1316A>G (p.Glu439Gly) | gnomAD v4 |
| 5 | g.139325507A>T | CA361146217 | MATR3 | c.2216A>T (p.Glu739Val) c.2360A>T (p.Glu787Val) n.1669A>T c.1202A>T (p.Glu401Val) c.1352A>T (p.Glu451Val) n.5936A>T n.394A>T c.524A>T (p.Glu175Val) c.1355A>T (p.Glu452Val) c.1346A>T (p.Glu449Val) c.1316A>T (p.Glu439Val) | |
| 5 | g.139325508A= | CA1586265015 | MATR3 | c.2217A= (p.Glu739=) c.2361A= (p.Glu787=) n.1670A= c.1203A= (p.Glu401=) c.1353A= (p.Glu451=) n.5937A= n.395A= c.525A= (p.Glu175=) c.1356A= (p.Glu452=) c.1347A= (p.Glu449=) c.1317A= (p.Glu439=) | |
| 5 | g.139325508A>C | CA361146219 | MATR3 | c.2217A>C (p.Glu739Asp) c.2361A>C (p.Glu787Asp) n.1670A>C c.1203A>C (p.Glu401Asp) c.1353A>C (p.Glu451Asp) n.5937A>C n.395A>C c.525A>C (p.Glu175Asp) c.1356A>C (p.Glu452Asp) c.1347A>C (p.Glu449Asp) c.1317A>C (p.Glu439Asp) | |
| 5 | g.139325508A>G | CA446793567 | MATR3 | c.2217A>G (p.Glu739=) c.2361A>G (p.Glu787=) n.1670A>G c.1203A>G (p.Glu401=) c.1353A>G (p.Glu451=) n.5937A>G n.395A>G c.525A>G (p.Glu175=) c.1356A>G (p.Glu452=) c.1347A>G (p.Glu449=) c.1317A>G (p.Glu439=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325508A>T | CA361146221 | MATR3 | c.2217A>T (p.Glu739Asp) c.2361A>T (p.Glu787Asp) n.1670A>T c.1203A>T (p.Glu401Asp) c.1353A>T (p.Glu451Asp) n.5937A>T n.395A>T c.525A>T (p.Glu175Asp) c.1356A>T (p.Glu452Asp) c.1347A>T (p.Glu449Asp) c.1317A>T (p.Glu439Asp) | |
| 5 | g.139325509A= | CA1586265018 | MATR3 | c.2218A= (p.Asn740=) c.2362A= (p.Asn788=) n.1671A= c.1204A= (p.Asn402=) c.1354A= (p.Asn452=) n.5938A= n.396A= c.526A= (p.Asn176=) c.1357A= (p.Asn453=) c.1348A= (p.Asn450=) c.1318A= (p.Asn440=) | |
| 5 | g.139325509A>C | CA361146222 | MATR3 | c.2218A>C (p.Asn740His) c.2362A>C (p.Asn788His) n.1671A>C c.1204A>C (p.Asn402His) c.1354A>C (p.Asn452His) n.5938A>C n.396A>C c.526A>C (p.Asn176His) c.1357A>C (p.Asn453His) c.1348A>C (p.Asn450His) c.1318A>C (p.Asn440His) | |
| 5 | g.139325509A>G | CA361146224 | MATR3 | c.2218A>G (p.Asn740Asp) c.2362A>G (p.Asn788Asp) n.1671A>G c.1204A>G (p.Asn402Asp) c.1354A>G (p.Asn452Asp) n.5938A>G n.396A>G c.526A>G (p.Asn176Asp) c.1357A>G (p.Asn453Asp) c.1348A>G (p.Asn450Asp) c.1318A>G (p.Asn440Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325509A>T | CA361146225 | MATR3 | c.2218A>T (p.Asn740Tyr) c.2362A>T (p.Asn788Tyr) n.1671A>T c.1204A>T (p.Asn402Tyr) c.1354A>T (p.Asn452Tyr) n.5938A>T n.396A>T c.526A>T (p.Asn176Tyr) c.1357A>T (p.Asn453Tyr) c.1348A>T (p.Asn450Tyr) c.1318A>T (p.Asn440Tyr) | |
| 5 | g.139325510A= | CA1586265022 | MATR3 | c.2219A= (p.Asn740=) c.2363A= (p.Asn788=) n.1672A= c.1205A= (p.Asn402=) c.1355A= (p.Asn452=) n.5939A= n.397A= c.527A= (p.Asn176=) c.1358A= (p.Asn453=) c.1349A= (p.Asn450=) c.1319A= (p.Asn440=) | |
| 5 | g.139325510A>C | CA361146230 | MATR3 | c.2219A>C (p.Asn740Thr) c.2363A>C (p.Asn788Thr) n.1672A>C c.1205A>C (p.Asn402Thr) c.1355A>C (p.Asn452Thr) n.5939A>C n.397A>C c.527A>C (p.Asn176Thr) c.1358A>C (p.Asn453Thr) c.1349A>C (p.Asn450Thr) c.1319A>C (p.Asn440Thr) | |
| 5 | g.139325510A>G | CA128240952 | MATR3 | c.2219A>G (p.Asn740Ser) c.2363A>G (p.Asn788Ser) n.1672A>G c.1205A>G (p.Asn402Ser) c.1355A>G (p.Asn452Ser) n.5939A>G n.397A>G c.527A>G (p.Asn176Ser) c.1358A>G (p.Asn453Ser) c.1349A>G (p.Asn450Ser) c.1319A>G (p.Asn440Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325510A>T | CA361146228 | MATR3 | c.2219A>T (p.Asn740Ile) c.2363A>T (p.Asn788Ile) n.1672A>T c.1205A>T (p.Asn402Ile) c.1355A>T (p.Asn452Ile) n.5939A>T n.397A>T c.527A>T (p.Asn176Ile) c.1358A>T (p.Asn453Ile) c.1349A>T (p.Asn450Ile) c.1319A>T (p.Asn440Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.139325511C>A | CA361146232 | MATR3 | c.2220C>A (p.Asn740Lys) c.2364C>A (p.Asn788Lys) n.1673C>A c.1206C>A (p.Asn402Lys) c.1356C>A (p.Asn452Lys) n.5940C>A n.398C>A c.528C>A (p.Asn176Lys) c.1359C>A (p.Asn453Lys) c.1350C>A (p.Asn450Lys) c.1320C>A (p.Asn440Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325511C= | CA1586265025 | MATR3 | c.2220C= (p.Asn740=) c.2364C= (p.Asn788=) n.1673C= c.1206C= (p.Asn402=) c.1356C= (p.Asn452=) n.5940C= n.398C= c.528C= (p.Asn176=) c.1359C= (p.Asn453=) c.1350C= (p.Asn450=) c.1320C= (p.Asn440=) | |
| 5 | g.139325511C>G | CA361146233 | MATR3 | c.2220C>G (p.Asn740Lys) c.2364C>G (p.Asn788Lys) n.1673C>G c.1206C>G (p.Asn402Lys) c.1356C>G (p.Asn452Lys) n.5940C>G n.398C>G c.528C>G (p.Asn176Lys) c.1359C>G (p.Asn453Lys) c.1350C>G (p.Asn450Lys) c.1320C>G (p.Asn440Lys) | |
| 5 | g.139325511C>T | CA446793576 | MATR3 | c.2220C>T (p.Asn740=) c.2364C>T (p.Asn788=) n.1673C>T c.1206C>T (p.Asn402=) c.1356C>T (p.Asn452=) n.5940C>T n.398C>T c.528C>T (p.Asn176=) c.1359C>T (p.Asn453=) c.1350C>T (p.Asn450=) c.1320C>T (p.Asn440=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325512A= | CA1586265030 | MATR3 | c.2221A= (p.Thr741=) c.2365A= (p.Thr789=) n.1674A= c.1207A= (p.Thr403=) c.1357A= (p.Thr453=) n.5941A= n.399A= c.529A= (p.Thr177=) c.1360A= (p.Thr454=) c.1351A= (p.Thr451=) c.1321A= (p.Thr441=) | |
| 5 | g.139325512A>C | CA361146235 | MATR3 | c.2221A>C (p.Thr741Pro) c.2365A>C (p.Thr789Pro) n.1674A>C c.1207A>C (p.Thr403Pro) c.1357A>C (p.Thr453Pro) n.5941A>C n.399A>C c.529A>C (p.Thr177Pro) c.1360A>C (p.Thr454Pro) c.1351A>C (p.Thr451Pro) c.1321A>C (p.Thr441Pro) | |
| 5 | g.139325512A>G | CA361146237 | MATR3 | c.2221A>G (p.Thr741Ala) c.2365A>G (p.Thr789Ala) n.1674A>G c.1207A>G (p.Thr403Ala) c.1357A>G (p.Thr453Ala) n.5941A>G n.399A>G c.529A>G (p.Thr177Ala) c.1360A>G (p.Thr454Ala) c.1351A>G (p.Thr451Ala) c.1321A>G (p.Thr441Ala) | dbSNP |
| 5 | g.139325512A>T | CA361146238 | MATR3 | c.2221A>T (p.Thr741Ser) c.2365A>T (p.Thr789Ser) n.1674A>T c.1207A>T (p.Thr403Ser) c.1357A>T (p.Thr453Ser) n.5941A>T n.399A>T c.529A>T (p.Thr177Ser) c.1360A>T (p.Thr454Ser) c.1351A>T (p.Thr451Ser) c.1321A>T (p.Thr441Ser) | |
| 5 | g.139325513C>A | CA361146241 | MATR3 | c.2222C>A (p.Thr741Lys) c.2366C>A (p.Thr789Lys) n.1675C>A c.1208C>A (p.Thr403Lys) c.1358C>A (p.Thr453Lys) n.5942C>A n.400C>A c.530C>A (p.Thr177Lys) c.1361C>A (p.Thr454Lys) c.1352C>A (p.Thr451Lys) c.1322C>A (p.Thr441Lys) | |
| 5 | g.139325513C>G | CA361146242 | MATR3 | c.2222C>G (p.Thr741Arg) c.2366C>G (p.Thr789Arg) n.1675C>G c.1208C>G (p.Thr403Arg) c.1358C>G (p.Thr453Arg) n.5942C>G n.400C>G c.530C>G (p.Thr177Arg) c.1361C>G (p.Thr454Arg) c.1352C>G (p.Thr451Arg) c.1322C>G (p.Thr441Arg) | |
| 5 | g.139325513C>T | CA361146243 | MATR3 | c.2222C>T (p.Thr741Ile) c.2366C>T (p.Thr789Ile) n.1675C>T c.1208C>T (p.Thr403Ile) c.1358C>T (p.Thr453Ile) n.5942C>T n.400C>T c.530C>T (p.Thr177Ile) c.1361C>T (p.Thr454Ile) c.1352C>T (p.Thr451Ile) c.1322C>T (p.Thr441Ile) | |
| 5 | g.139325514A= | CA1586265034 | MATR3 | c.2223A= (p.Thr741=) c.2367A= (p.Thr789=) n.1676A= c.1209A= (p.Thr403=) c.1359A= (p.Thr453=) n.5943A= n.401A= c.531A= (p.Thr177=) c.1362A= (p.Thr454=) c.1353A= (p.Thr451=) c.1323A= (p.Thr441=) | |
| 5 | g.139325514A>C | CA446793583 | MATR3 | c.2223A>C (p.Thr741=) c.2367A>C (p.Thr789=) n.1676A>C c.1209A>C (p.Thr403=) c.1359A>C (p.Thr453=) n.5943A>C n.401A>C c.531A>C (p.Thr177=) c.1362A>C (p.Thr454=) c.1353A>C (p.Thr451=) c.1323A>C (p.Thr441=) | |
| 5 | g.139325514A>G | CA3433390 | MATR3 | c.2223A>G (p.Thr741=) c.2367A>G (p.Thr789=) n.1676A>G c.1209A>G (p.Thr403=) c.1359A>G (p.Thr453=) n.5943A>G n.401A>G c.531A>G (p.Thr177=) c.1362A>G (p.Thr454=) c.1353A>G (p.Thr451=) c.1323A>G (p.Thr441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325514A>T | CA446793581 | MATR3 | c.2223A>T (p.Thr741=) c.2367A>T (p.Thr789=) n.1676A>T c.1209A>T (p.Thr403=) c.1359A>T (p.Thr453=) n.5943A>T n.401A>T c.531A>T (p.Thr177=) c.1362A>T (p.Thr454=) c.1353A>T (p.Thr451=) c.1323A>T (p.Thr441=) | |
| 5 | g.139325515G>A | CA3433391 | MATR3 | c.2224G>A (p.Glu742Lys) c.2368G>A (p.Glu790Lys) n.1677G>A c.1210G>A (p.Glu404Lys) c.1360G>A (p.Glu454Lys) n.5944G>A n.402G>A c.532G>A (p.Glu178Lys) c.1363G>A (p.Glu455Lys) c.1354G>A (p.Glu452Lys) c.1324G>A (p.Glu442Lys) | dbSNP ExAC gnomAD v4 |
| 5 | g.139325515G>C | CA361146246 | MATR3 | c.2224G>C (p.Glu742Gln) c.2368G>C (p.Glu790Gln) n.1677G>C c.1210G>C (p.Glu404Gln) c.1360G>C (p.Glu454Gln) n.5944G>C n.402G>C c.532G>C (p.Glu178Gln) c.1363G>C (p.Glu455Gln) c.1354G>C (p.Glu452Gln) c.1324G>C (p.Glu442Gln) | |
| 5 | g.139325515G= | CA1586265037 | MATR3 | c.2224G= (p.Glu742=) c.2368G= (p.Glu790=) n.1677G= c.1210G= (p.Glu404=) c.1360G= (p.Glu454=) n.5944G= n.402G= c.532G= (p.Glu178=) c.1363G= (p.Glu455=) c.1354G= (p.Glu452=) c.1324G= (p.Glu442=) | |
| 5 | g.139325515G>T | CA361146247 | MATR3 | c.2224G>T (p.Glu742Ter) c.2368G>T (p.Glu790Ter) n.1677G>T c.1210G>T (p.Glu404Ter) c.1360G>T (p.Glu454Ter) n.5944G>T n.402G>T c.532G>T (p.Glu178Ter) c.1363G>T (p.Glu455Ter) c.1354G>T (p.Glu452Ter) c.1324G>T (p.Glu442Ter) | |
| 5 | g.139325516A>C | CA361146251 | MATR3 | c.2225A>C (p.Glu742Ala) c.2369A>C (p.Glu790Ala) n.1678A>C c.1211A>C (p.Glu404Ala) c.1361A>C (p.Glu454Ala) n.5945A>C n.403A>C c.533A>C (p.Glu178Ala) c.1364A>C (p.Glu455Ala) c.1355A>C (p.Glu452Ala) c.1325A>C (p.Glu442Ala) | |
| 5 | g.139325516A>G | CA361146250 | MATR3 | c.2225A>G (p.Glu742Gly) c.2369A>G (p.Glu790Gly) n.1678A>G c.1211A>G (p.Glu404Gly) c.1361A>G (p.Glu454Gly) n.5945A>G n.403A>G c.533A>G (p.Glu178Gly) c.1364A>G (p.Glu455Gly) c.1355A>G (p.Glu452Gly) c.1325A>G (p.Glu442Gly) | |
| 5 | g.139325516A>T | CA361146249 | MATR3 | c.2225A>T (p.Glu742Val) c.2369A>T (p.Glu790Val) n.1678A>T c.1211A>T (p.Glu404Val) c.1361A>T (p.Glu454Val) n.5945A>T n.403A>T c.533A>T (p.Glu178Val) c.1364A>T (p.Glu455Val) c.1355A>T (p.Glu452Val) c.1325A>T (p.Glu442Val) | |
| 5 | g.139325517A>C | CA361146253 | MATR3 | c.2226A>C (p.Glu742Asp) c.2370A>C (p.Glu790Asp) n.1679A>C c.1212A>C (p.Glu404Asp) c.1362A>C (p.Glu454Asp) n.5946A>C n.404A>C c.534A>C (p.Glu178Asp) c.1365A>C (p.Glu455Asp) c.1356A>C (p.Glu452Asp) c.1326A>C (p.Glu442Asp) | |
| 5 | g.139325517A>G | CA446793586 | MATR3 | c.2226A>G (p.Glu742=) c.2370A>G (p.Glu790=) n.1679A>G c.1212A>G (p.Glu404=) c.1362A>G (p.Glu454=) n.5946A>G n.404A>G c.534A>G (p.Glu178=) c.1365A>G (p.Glu455=) c.1356A>G (p.Glu452=) c.1326A>G (p.Glu442=) | |
| 5 | g.139325517A>T | CA361146254 | MATR3 | c.2226A>T (p.Glu742Asp) c.2370A>T (p.Glu790Asp) n.1679A>T c.1212A>T (p.Glu404Asp) c.1362A>T (p.Glu454Asp) n.5946A>T n.404A>T c.534A>T (p.Glu178Asp) c.1365A>T (p.Glu455Asp) c.1356A>T (p.Glu452Asp) c.1326A>T (p.Glu442Asp) | |
| 5 | g.139325518C>A | CA361146256 | MATR3 | c.2227C>A (p.Pro743Thr) c.2371C>A (p.Pro791Thr) n.1680C>A c.1213C>A (p.Pro405Thr) c.1363C>A (p.Pro455Thr) n.5947C>A n.405C>A c.535C>A (p.Pro179Thr) c.1366C>A (p.Pro456Thr) c.1357C>A (p.Pro453Thr) c.1327C>A (p.Pro443Thr) | |
| 5 | g.139325518C= | CA1586265041 | MATR3 | c.2227C= (p.Pro743=) c.2371C= (p.Pro791=) n.1680C= c.1213C= (p.Pro405=) c.1363C= (p.Pro455=) n.5947C= n.405C= c.535C= (p.Pro179=) c.1366C= (p.Pro456=) c.1357C= (p.Pro453=) c.1327C= (p.Pro443=) | |
| 5 | g.139325518C>G | CA361146258 | MATR3 | c.2227C>G (p.Pro743Ala) c.2371C>G (p.Pro791Ala) n.1680C>G c.1213C>G (p.Pro405Ala) c.1363C>G (p.Pro455Ala) n.5947C>G n.405C>G c.535C>G (p.Pro179Ala) c.1366C>G (p.Pro456Ala) c.1357C>G (p.Pro453Ala) c.1327C>G (p.Pro443Ala) | |
| 5 | g.139325518C>T | CA361146259 | MATR3 | c.2227C>T (p.Pro743Ser) c.2371C>T (p.Pro791Ser) n.1680C>T c.1213C>T (p.Pro405Ser) c.1363C>T (p.Pro455Ser) n.5947C>T n.405C>T c.535C>T (p.Pro179Ser) c.1366C>T (p.Pro456Ser) c.1357C>T (p.Pro453Ser) c.1327C>T (p.Pro443Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325519C>A | CA361146261 | MATR3 | c.2228C>A (p.Pro743Gln) c.2372C>A (p.Pro791Gln) n.1681C>A c.1214C>A (p.Pro405Gln) c.1364C>A (p.Pro455Gln) n.5948C>A n.406C>A c.536C>A (p.Pro179Gln) c.1367C>A (p.Pro456Gln) c.1358C>A (p.Pro453Gln) c.1328C>A (p.Pro443Gln) | |
| 5 | g.139325519C= | CA1586265042 | MATR3 | c.2228C= (p.Pro743=) c.2372C= (p.Pro791=) n.1681C= c.1214C= (p.Pro405=) c.1364C= (p.Pro455=) n.5948C= n.406C= c.536C= (p.Pro179=) c.1367C= (p.Pro456=) c.1358C= (p.Pro453=) c.1328C= (p.Pro443=) | |
| 5 | g.139325519C>G | CA361146263 | MATR3 | c.2228C>G (p.Pro743Arg) c.2372C>G (p.Pro791Arg) n.1681C>G c.1214C>G (p.Pro405Arg) c.1364C>G (p.Pro455Arg) n.5948C>G n.406C>G c.536C>G (p.Pro179Arg) c.1367C>G (p.Pro456Arg) c.1358C>G (p.Pro453Arg) c.1328C>G (p.Pro443Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.139325519C>T | CA361146264 | MATR3 | c.2228C>T (p.Pro743Leu) c.2372C>T (p.Pro791Leu) n.1681C>T c.1214C>T (p.Pro405Leu) c.1364C>T (p.Pro455Leu) n.5948C>T n.406C>T c.536C>T (p.Pro179Leu) c.1367C>T (p.Pro456Leu) c.1358C>T (p.Pro453Leu) c.1328C>T (p.Pro443Leu) | |
| 5 | g.139325520A= | CA1586265043 | MATR3 | c.2229A= (p.Pro743=) c.2373A= (p.Pro791=) n.1682A= c.1215A= (p.Pro405=) c.1365A= (p.Pro455=) n.5949A= n.407A= c.537A= (p.Pro179=) c.1368A= (p.Pro456=) c.1359A= (p.Pro453=) c.1329A= (p.Pro443=) | |
| 5 | g.139325520A>C | CA446793589 | MATR3 | c.2229A>C (p.Pro743=) c.2373A>C (p.Pro791=) n.1682A>C c.1215A>C (p.Pro405=) c.1365A>C (p.Pro455=) n.5949A>C n.407A>C c.537A>C (p.Pro179=) c.1368A>C (p.Pro456=) c.1359A>C (p.Pro453=) c.1329A>C (p.Pro443=) | dbSNP gnomAD v4 |
| 5 | g.139325520A>G | CA3433392 | MATR3 | c.2229A>G (p.Pro743=) c.2373A>G (p.Pro791=) n.1682A>G c.1215A>G (p.Pro405=) c.1365A>G (p.Pro455=) n.5949A>G n.407A>G c.537A>G (p.Pro179=) c.1368A>G (p.Pro456=) c.1359A>G (p.Pro453=) c.1329A>G (p.Pro443=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325520A>T | CA446793591 | MATR3 | c.2229A>T (p.Pro743=) c.2373A>T (p.Pro791=) n.1682A>T c.1215A>T (p.Pro405=) c.1365A>T (p.Pro455=) n.5949A>T n.407A>T c.537A>T (p.Pro179=) c.1368A>T (p.Pro456=) c.1359A>T (p.Pro453=) c.1329A>T (p.Pro443=) | |
| 5 | g.139325521G>A | CA361146266 | MATR3 | c.2230G>A (p.Gly744Ser) c.2374G>A (p.Gly792Ser) n.1683G>A c.1216G>A (p.Gly406Ser) c.1366G>A (p.Gly456Ser) n.5950G>A n.408G>A c.538G>A (p.Gly180Ser) c.1369G>A (p.Gly457Ser) c.1360G>A (p.Gly454Ser) c.1330G>A (p.Gly444Ser) | |
| 5 | g.139325521G>C | CA361146267 | MATR3 | c.2230G>C (p.Gly744Arg) c.2374G>C (p.Gly792Arg) n.1683G>C c.1216G>C (p.Gly406Arg) c.1366G>C (p.Gly456Arg) n.5950G>C n.408G>C c.538G>C (p.Gly180Arg) c.1369G>C (p.Gly457Arg) c.1360G>C (p.Gly454Arg) c.1330G>C (p.Gly444Arg) | |
| 5 | g.139325521G>T | CA361146268 | MATR3 | c.2230G>T (p.Gly744Cys) c.2374G>T (p.Gly792Cys) n.1683G>T c.1216G>T (p.Gly406Cys) c.1366G>T (p.Gly456Cys) n.5950G>T n.408G>T c.538G>T (p.Gly180Cys) c.1369G>T (p.Gly457Cys) c.1360G>T (p.Gly454Cys) c.1330G>T (p.Gly444Cys) | |
| 5 | g.139325522G>A | CA361146272 | MATR3 | c.2231G>A (p.Gly744Asp) c.2375G>A (p.Gly792Asp) n.1684G>A c.1217G>A (p.Gly406Asp) c.1367G>A (p.Gly456Asp) n.5951G>A n.409G>A c.539G>A (p.Gly180Asp) c.1370G>A (p.Gly457Asp) c.1361G>A (p.Gly454Asp) c.1331G>A (p.Gly444Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.139325522G>C | CA361146270 | MATR3 | c.2231G>C (p.Gly744Ala) c.2375G>C (p.Gly792Ala) n.1684G>C c.1217G>C (p.Gly406Ala) c.1367G>C (p.Gly456Ala) n.5951G>C n.409G>C c.539G>C (p.Gly180Ala) c.1370G>C (p.Gly457Ala) c.1361G>C (p.Gly454Ala) c.1331G>C (p.Gly444Ala) | gnomAD v4 |
| 5 | g.139325522G= | CA1586265044 | MATR3 | c.2231G= (p.Gly744=) c.2375G= (p.Gly792=) n.1684G= c.1217G= (p.Gly406=) c.1367G= (p.Gly456=) n.5951G= n.409G= c.539G= (p.Gly180=) c.1370G= (p.Gly457=) c.1361G= (p.Gly454=) c.1331G= (p.Gly444=) | |
| 5 | g.139325522G>T | CA361146271 | MATR3 | c.2231G>T (p.Gly744Val) c.2375G>T (p.Gly792Val) n.1684G>T c.1217G>T (p.Gly406Val) c.1367G>T (p.Gly456Val) n.5951G>T n.409G>T c.539G>T (p.Gly180Val) c.1370G>T (p.Gly457Val) c.1361G>T (p.Gly454Val) c.1331G>T (p.Gly444Val) | gnomAD v4 |
| 5 | g.139325523T>A | CA446793593 | MATR3 | c.2232T>A (p.Gly744=) c.2376T>A (p.Gly792=) n.1685T>A c.1218T>A (p.Gly406=) c.1368T>A (p.Gly456=) n.5952T>A n.410T>A c.540T>A (p.Gly180=) c.1371T>A (p.Gly457=) c.1362T>A (p.Gly454=) c.1332T>A (p.Gly444=) | |
| 5 | g.139325523T>C | CA446793595 | MATR3 | c.2232T>C (p.Gly744=) c.2376T>C (p.Gly792=) n.1685T>C c.1218T>C (p.Gly406=) c.1368T>C (p.Gly456=) n.5952T>C n.410T>C c.540T>C (p.Gly180=) c.1371T>C (p.Gly457=) c.1362T>C (p.Gly454=) c.1332T>C (p.Gly444=) | COSMIC COSMIC |
| 5 | g.139325523T>G | CA446793597 | MATR3 | c.2232T>G (p.Gly744=) c.2376T>G (p.Gly792=) n.1685T>G c.1218T>G (p.Gly406=) c.1368T>G (p.Gly456=) n.5952T>G n.410T>G c.540T>G (p.Gly180=) c.1371T>G (p.Gly457=) c.1362T>G (p.Gly454=) c.1332T>G (p.Gly444=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.139325523T= | CA1586265046 | MATR3 | c.2232T= (p.Gly744=) c.2376T= (p.Gly792=) n.1685T= c.1218T= (p.Gly406=) c.1368T= (p.Gly456=) n.5952T= n.410T= c.540T= (p.Gly180=) c.1371T= (p.Gly457=) c.1362T= (p.Gly454=) c.1332T= (p.Gly444=) | |
| 5 | g.139325524G>A | CA361146274 | MATR3 | c.2233G>A (p.Ala745Thr) c.2377G>A (p.Ala793Thr) n.1686G>A c.1219G>A (p.Ala407Thr) c.1369G>A (p.Ala457Thr) n.5953G>A n.411G>A c.541G>A (p.Ala181Thr) c.1372G>A (p.Ala458Thr) c.1363G>A (p.Ala455Thr) c.1333G>A (p.Ala445Thr) | dbSNP gnomAD v4 |
| 5 | g.139325524G>C | CA3433393 | MATR3 | c.2233G>C (p.Ala745Pro) c.2377G>C (p.Ala793Pro) n.1686G>C c.1219G>C (p.Ala407Pro) c.1369G>C (p.Ala457Pro) n.5953G>C n.411G>C c.541G>C (p.Ala181Pro) c.1372G>C (p.Ala458Pro) c.1363G>C (p.Ala455Pro) c.1333G>C (p.Ala445Pro) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.139325524G= | CA1586265051 | MATR3 | c.2233G= (p.Ala745=) c.2377G= (p.Ala793=) n.1686G= c.1219G= (p.Ala407=) c.1369G= (p.Ala457=) n.5953G= n.411G= c.541G= (p.Ala181=) c.1372G= (p.Ala458=) c.1363G= (p.Ala455=) c.1333G= (p.Ala445=) | |
| 5 | g.139325524G>T | CA361146276 | MATR3 | c.2233G>T (p.Ala745Ser) c.2377G>T (p.Ala793Ser) n.1686G>T c.1219G>T (p.Ala407Ser) c.1369G>T (p.Ala457Ser) n.5953G>T n.411G>T c.541G>T (p.Ala181Ser) c.1372G>T (p.Ala458Ser) c.1363G>T (p.Ala455Ser) c.1333G>T (p.Ala445Ser) | |
| 5 | g.139325525C>A | CA361146278 | MATR3 | c.2234C>A (p.Ala745Asp) c.2378C>A (p.Ala793Asp) n.1687C>A c.1220C>A (p.Ala407Asp) c.1370C>A (p.Ala457Asp) n.5954C>A n.412C>A c.542C>A (p.Ala181Asp) c.1373C>A (p.Ala458Asp) c.1364C>A (p.Ala455Asp) c.1334C>A (p.Ala445Asp) | |
| 5 | g.139325525C= | CA1586265062 | MATR3 | c.2234C= (p.Ala745=) c.2378C= (p.Ala793=) n.1687C= c.1220C= (p.Ala407=) c.1370C= (p.Ala457=) n.5954C= n.412C= c.542C= (p.Ala181=) c.1373C= (p.Ala458=) c.1364C= (p.Ala455=) c.1334C= (p.Ala445=) | |
| 5 | g.139325525C>G | CA361146279 | MATR3 | c.2234C>G (p.Ala745Gly) c.2378C>G (p.Ala793Gly) n.1687C>G c.1220C>G (p.Ala407Gly) c.1370C>G (p.Ala457Gly) n.5954C>G n.412C>G c.542C>G (p.Ala181Gly) c.1373C>G (p.Ala458Gly) c.1364C>G (p.Ala455Gly) c.1334C>G (p.Ala445Gly) | |
| 5 | g.139325525C>T | CA3433394 | MATR3 | c.2234C>T (p.Ala745Val) c.2378C>T (p.Ala793Val) n.1687C>T c.1220C>T (p.Ala407Val) c.1370C>T (p.Ala457Val) n.5954C>T n.412C>T c.542C>T (p.Ala181Val) c.1373C>T (p.Ala458Val) c.1364C>T (p.Ala455Val) c.1334C>T (p.Ala445Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325526T>A | CA446793602 | MATR3 | c.2235T>A (p.Ala745=) c.2379T>A (p.Ala793=) n.1688T>A c.1221T>A (p.Ala407=) c.1371T>A (p.Ala457=) n.5955T>A n.413T>A c.543T>A (p.Ala181=) c.1374T>A (p.Ala458=) c.1365T>A (p.Ala455=) c.1335T>A (p.Ala445=) | |
| 5 | g.139325526T>C | CA446793604 | MATR3 | c.2235T>C (p.Ala745=) c.2379T>C (p.Ala793=) n.1688T>C c.1221T>C (p.Ala407=) c.1371T>C (p.Ala457=) n.5955T>C n.413T>C c.543T>C (p.Ala181=) c.1374T>C (p.Ala458=) c.1365T>C (p.Ala455=) c.1335T>C (p.Ala445=) | ClinVar gnomAD v4 |
| 5 | g.139325526T>G | CA446793605 | MATR3 | c.2235T>G (p.Ala745=) c.2379T>G (p.Ala793=) n.1688T>G c.1221T>G (p.Ala407=) c.1371T>G (p.Ala457=) n.5955T>G n.413T>G c.543T>G (p.Ala181=) c.1374T>G (p.Ala458=) c.1365T>G (p.Ala455=) c.1335T>G (p.Ala445=) | |
| 5 | g.139325527G>A | CA361146282 | MATR3 | c.2236G>A (p.Glu746Lys) c.2380G>A (p.Glu794Lys) n.1689G>A c.1222G>A (p.Glu408Lys) c.1372G>A (p.Glu458Lys) n.5956G>A n.414G>A c.544G>A (p.Glu182Lys) c.1375G>A (p.Glu459Lys) c.1366G>A (p.Glu456Lys) c.1336G>A (p.Glu446Lys) | |
| 5 | g.139325527G>C | CA361146284 | MATR3 | c.2236G>C (p.Glu746Gln) c.2380G>C (p.Glu794Gln) n.1689G>C c.1222G>C (p.Glu408Gln) c.1372G>C (p.Glu458Gln) n.5956G>C n.414G>C c.544G>C (p.Glu182Gln) c.1375G>C (p.Glu459Gln) c.1366G>C (p.Glu456Gln) c.1336G>C (p.Glu446Gln) | COSMIC COSMIC |
| 5 | g.139325527G>T | CA361146285 | MATR3 | c.2236G>T (p.Glu746Ter) c.2380G>T (p.Glu794Ter) n.1689G>T c.1222G>T (p.Glu408Ter) c.1372G>T (p.Glu458Ter) n.5956G>T n.414G>T c.544G>T (p.Glu182Ter) c.1375G>T (p.Glu459Ter) c.1366G>T (p.Glu456Ter) c.1336G>T (p.Glu446Ter) | COSMIC COSMIC |
| 5 | g.139325528A>C | CA361146288 | MATR3 | c.2237A>C (p.Glu746Ala) c.2381A>C (p.Glu794Ala) n.1690A>C c.1223A>C (p.Glu408Ala) c.1373A>C (p.Glu458Ala) n.5957A>C n.415A>C c.545A>C (p.Glu182Ala) c.1376A>C (p.Glu459Ala) c.1367A>C (p.Glu456Ala) c.1337A>C (p.Glu446Ala) | |
| 5 | g.139325528A>G | CA361146289 | MATR3 | c.2237A>G (p.Glu746Gly) c.2381A>G (p.Glu794Gly) n.1690A>G c.1223A>G (p.Glu408Gly) c.1373A>G (p.Glu458Gly) n.5957A>G n.415A>G c.545A>G (p.Glu182Gly) c.1376A>G (p.Glu459Gly) c.1367A>G (p.Glu456Gly) c.1337A>G (p.Glu446Gly) | ClinVar |
| 5 | g.139325528A>T | CA361146290 | MATR3 | c.2237A>T (p.Glu746Val) c.2381A>T (p.Glu794Val) n.1690A>T c.1223A>T (p.Glu408Val) c.1373A>T (p.Glu458Val) n.5957A>T n.415A>T c.545A>T (p.Glu182Val) c.1376A>T (p.Glu459Val) c.1367A>T (p.Glu456Val) c.1337A>T (p.Glu446Val) | |
| 5 | g.139325529A= | CA1586265066 | MATR3 | c.2238A= (p.Glu746=) c.2382A= (p.Glu794=) n.1691A= c.1224A= (p.Glu408=) c.1374A= (p.Glu458=) n.5958A= n.416A= c.546A= (p.Glu182=) c.1377A= (p.Glu459=) c.1368A= (p.Glu456=) c.1338A= (p.Glu446=) | |
| 5 | g.139325529A>C | CA361146294 | MATR3 | c.2238A>C (p.Glu746Asp) c.2382A>C (p.Glu794Asp) n.1691A>C c.1224A>C (p.Glu408Asp) c.1374A>C (p.Glu458Asp) n.5958A>C n.416A>C c.546A>C (p.Glu182Asp) c.1377A>C (p.Glu459Asp) c.1368A>C (p.Glu456Asp) c.1338A>C (p.Glu446Asp) | |
| 5 | g.139325529A>G | CA3433395 | MATR3 | c.2238A>G (p.Glu746=) c.2382A>G (p.Glu794=) n.1691A>G c.1224A>G (p.Glu408=) c.1374A>G (p.Glu458=) n.5958A>G n.416A>G c.546A>G (p.Glu182=) c.1377A>G (p.Glu459=) c.1368A>G (p.Glu456=) c.1338A>G (p.Glu446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325529A>T | CA361146292 | MATR3 | c.2238A>T (p.Glu746Asp) c.2382A>T (p.Glu794Asp) n.1691A>T c.1224A>T (p.Glu408Asp) c.1374A>T (p.Glu458Asp) n.5958A>T n.416A>T c.546A>T (p.Glu182Asp) c.1377A>T (p.Glu459Asp) c.1368A>T (p.Glu456Asp) c.1338A>T (p.Glu446Asp) | |
| 5 | g.139325530T>A | CA361146298 | MATR3 | c.2239T>A (p.Ser747Thr) c.2383T>A (p.Ser795Thr) n.1692T>A c.1225T>A (p.Ser409Thr) c.1375T>A (p.Ser459Thr) n.5959T>A n.417T>A c.547T>A (p.Ser183Thr) c.1378T>A (p.Ser460Thr) c.1369T>A (p.Ser457Thr) c.1339T>A (p.Ser447Thr) | |
| 5 | g.139325530T>C | CA361146296 | MATR3 | c.2239T>C (p.Ser747Pro) c.2383T>C (p.Ser795Pro) n.1692T>C c.1225T>C (p.Ser409Pro) c.1375T>C (p.Ser459Pro) n.5959T>C n.417T>C c.547T>C (p.Ser183Pro) c.1378T>C (p.Ser460Pro) c.1369T>C (p.Ser457Pro) c.1339T>C (p.Ser447Pro) | gnomAD v4 |
| 5 | g.139325530T>G | CA361146300 | MATR3 | c.2239T>G (p.Ser747Ala) c.2383T>G (p.Ser795Ala) n.1692T>G c.1225T>G (p.Ser409Ala) c.1375T>G (p.Ser459Ala) n.5959T>G n.417T>G c.547T>G (p.Ser183Ala) c.1378T>G (p.Ser460Ala) c.1369T>G (p.Ser457Ala) c.1339T>G (p.Ser447Ala) | |
| 5 | g.139325531C>A | CA3433396 | MATR3 | c.2240C>A (p.Ser747Tyr) c.2384C>A (p.Ser795Tyr) n.1693C>A c.1226C>A (p.Ser409Tyr) c.1376C>A (p.Ser459Tyr) n.5960C>A n.418C>A c.548C>A (p.Ser183Tyr) c.1379C>A (p.Ser460Tyr) c.1370C>A (p.Ser457Tyr) c.1340C>A (p.Ser447Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325531C= | CA1586265068 | MATR3 | c.2240C= (p.Ser747=) c.2384C= (p.Ser795=) n.1693C= c.1226C= (p.Ser409=) c.1376C= (p.Ser459=) n.5960C= n.418C= c.548C= (p.Ser183=) c.1379C= (p.Ser460=) c.1370C= (p.Ser457=) c.1340C= (p.Ser447=) | |
| 5 | g.139325531C>G | CA361146302 | MATR3 | c.2240C>G (p.Ser747Cys) c.2384C>G (p.Ser795Cys) n.1693C>G c.1226C>G (p.Ser409Cys) c.1376C>G (p.Ser459Cys) n.5960C>G n.418C>G c.548C>G (p.Ser183Cys) c.1379C>G (p.Ser460Cys) c.1370C>G (p.Ser457Cys) c.1340C>G (p.Ser447Cys) | |
| 5 | g.139325531C>T | CA361146303 | MATR3 | c.2240C>T (p.Ser747Phe) c.2384C>T (p.Ser795Phe) n.1693C>T c.1226C>T (p.Ser409Phe) c.1376C>T (p.Ser459Phe) n.5960C>T n.418C>T c.548C>T (p.Ser183Phe) c.1379C>T (p.Ser460Phe) c.1370C>T (p.Ser457Phe) c.1340C>T (p.Ser447Phe) | |
| 5 | g.139325532T>A | CA446793613 | MATR3 | c.2241T>A (p.Ser747=) c.2385T>A (p.Ser795=) n.1694T>A c.1227T>A (p.Ser409=) c.1377T>A (p.Ser459=) n.5961T>A n.419T>A c.549T>A (p.Ser183=) c.1380T>A (p.Ser460=) c.1371T>A (p.Ser457=) c.1341T>A (p.Ser447=) | |
| 5 | g.139325532T>C | CA446793615 | MATR3 | c.2241T>C (p.Ser747=) c.2385T>C (p.Ser795=) n.1694T>C c.1227T>C (p.Ser409=) c.1377T>C (p.Ser459=) n.5961T>C n.419T>C c.549T>C (p.Ser183=) c.1380T>C (p.Ser460=) c.1371T>C (p.Ser457=) c.1341T>C (p.Ser447=) | |
| 5 | g.139325532T>G | CA446793617 | MATR3 | c.2241T>G (p.Ser747=) c.2385T>G (p.Ser795=) n.1694T>G c.1227T>G (p.Ser409=) c.1377T>G (p.Ser459=) n.5961T>G n.419T>G c.549T>G (p.Ser183=) c.1380T>G (p.Ser460=) c.1371T>G (p.Ser457=) c.1341T>G (p.Ser447=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.139325532T= | CA1586265073 | MATR3 | c.2241T= (p.Ser747=) c.2385T= (p.Ser795=) n.1694T= c.1227T= (p.Ser409=) c.1377T= (p.Ser459=) n.5961T= n.419T= c.549T= (p.Ser183=) c.1380T= (p.Ser460=) c.1371T= (p.Ser457=) c.1341T= (p.Ser447=) | |
| 5 | g.139325533T>A | CA361146306 | MATR3 | c.2242T>A (p.Ser748Thr) c.2386T>A (p.Ser796Thr) n.1695T>A c.1228T>A (p.Ser410Thr) c.1378T>A (p.Ser460Thr) n.5962T>A n.420T>A c.550T>A (p.Ser184Thr) c.1381T>A (p.Ser461Thr) c.1372T>A (p.Ser458Thr) c.1342T>A (p.Ser448Thr) | |
| 5 | g.139325533T>C | CA3433397 | MATR3 | c.2242T>C (p.Ser748Pro) c.2386T>C (p.Ser796Pro) n.1695T>C c.1228T>C (p.Ser410Pro) c.1378T>C (p.Ser460Pro) n.5962T>C n.420T>C c.550T>C (p.Ser184Pro) c.1381T>C (p.Ser461Pro) c.1372T>C (p.Ser458Pro) c.1342T>C (p.Ser448Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325533T>G | CA361146308 | MATR3 | c.2242T>G (p.Ser748Ala) c.2386T>G (p.Ser796Ala) n.1695T>G c.1228T>G (p.Ser410Ala) c.1378T>G (p.Ser460Ala) n.5962T>G n.420T>G c.550T>G (p.Ser184Ala) c.1381T>G (p.Ser461Ala) c.1372T>G (p.Ser458Ala) c.1342T>G (p.Ser448Ala) | dbSNP |
| 5 | g.139325533T= | CA1586265079 | MATR3 | c.2242T= (p.Ser748=) c.2386T= (p.Ser796=) n.1695T= c.1228T= (p.Ser410=) c.1378T= (p.Ser460=) n.5962T= n.420T= c.550T= (p.Ser184=) c.1381T= (p.Ser461=) c.1372T= (p.Ser458=) c.1342T= (p.Ser448=) | |
| 5 | g.139325534C>A | CA361146309 | MATR3 | c.2243C>A (p.Ser748Tyr) c.2387C>A (p.Ser796Tyr) n.1696C>A c.1229C>A (p.Ser410Tyr) c.1379C>A (p.Ser460Tyr) n.5963C>A n.421C>A c.551C>A (p.Ser184Tyr) c.1382C>A (p.Ser461Tyr) c.1373C>A (p.Ser458Tyr) c.1343C>A (p.Ser448Tyr) | |
| 5 | g.139325534C= | CA1586265086 | MATR3 | c.2243C= (p.Ser748=) c.2387C= (p.Ser796=) n.1696C= c.1229C= (p.Ser410=) c.1379C= (p.Ser460=) n.5963C= n.421C= c.551C= (p.Ser184=) c.1382C= (p.Ser461=) c.1373C= (p.Ser458=) c.1343C= (p.Ser448=) | |
| 5 | g.139325534C>G | CA128241004 | MATR3 | c.2243C>G (p.Ser748Cys) c.2387C>G (p.Ser796Cys) n.1696C>G c.1229C>G (p.Ser410Cys) c.1379C>G (p.Ser460Cys) n.5963C>G n.421C>G c.551C>G (p.Ser184Cys) c.1382C>G (p.Ser461Cys) c.1373C>G (p.Ser458Cys) c.1343C>G (p.Ser448Cys) | dbSNP gnomAD v4 |
| 5 | g.139325534C>T | CA361146311 | MATR3 | c.2243C>T (p.Ser748Phe) c.2387C>T (p.Ser796Phe) n.1696C>T c.1229C>T (p.Ser410Phe) c.1379C>T (p.Ser460Phe) n.5963C>T n.421C>T c.551C>T (p.Ser184Phe) c.1382C>T (p.Ser461Phe) c.1373C>T (p.Ser458Phe) c.1343C>T (p.Ser448Phe) | |
| 5 | g.139325535T>A | CA446793623 | MATR3 | c.2244T>A (p.Ser748=) c.2388T>A (p.Ser796=) n.1697T>A c.1230T>A (p.Ser410=) c.1380T>A (p.Ser460=) n.5964T>A n.422T>A c.552T>A (p.Ser184=) c.1383T>A (p.Ser461=) c.1374T>A (p.Ser458=) c.1344T>A (p.Ser448=) | |
| 5 | g.139325535T>C | CA446793625 | MATR3 | c.2244T>C (p.Ser748=) c.2388T>C (p.Ser796=) n.1697T>C c.1230T>C (p.Ser410=) c.1380T>C (p.Ser460=) n.5964T>C n.422T>C c.552T>C (p.Ser184=) c.1383T>C (p.Ser461=) c.1374T>C (p.Ser458=) c.1344T>C (p.Ser448=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325535T>G | CA446793624 | MATR3 | c.2244T>G (p.Ser748=) c.2388T>G (p.Ser796=) n.1697T>G c.1230T>G (p.Ser410=) c.1380T>G (p.Ser460=) n.5964T>G n.422T>G c.552T>G (p.Ser184=) c.1383T>G (p.Ser461=) c.1374T>G (p.Ser458=) c.1344T>G (p.Ser448=) | |
| 5 | g.139325535T= | CA1586265088 | MATR3 | c.2244T= (p.Ser748=) c.2388T= (p.Ser796=) n.1697T= c.1230T= (p.Ser410=) c.1380T= (p.Ser460=) n.5964T= n.422T= c.552T= (p.Ser184=) c.1383T= (p.Ser461=) c.1374T= (p.Ser458=) c.1344T= (p.Ser448=) | |
| 5 | g.139325536G>A | CA361146313 | MATR3 | c.2245G>A (p.Glu749Lys) c.2389G>A (p.Glu797Lys) n.1698G>A c.1231G>A (p.Glu411Lys) c.1381G>A (p.Glu461Lys) n.5965G>A n.423G>A c.553G>A (p.Glu185Lys) c.1384G>A (p.Glu462Lys) c.1375G>A (p.Glu459Lys) c.1345G>A (p.Glu449Lys) | gnomAD v4 |
| 5 | g.139325536G>C | CA361146314 | MATR3 | c.2245G>C (p.Glu749Gln) c.2389G>C (p.Glu797Gln) n.1698G>C c.1231G>C (p.Glu411Gln) c.1381G>C (p.Glu461Gln) n.5965G>C n.423G>C c.553G>C (p.Glu185Gln) c.1384G>C (p.Glu462Gln) c.1375G>C (p.Glu459Gln) c.1345G>C (p.Glu449Gln) | |
| 5 | g.139325536G>T | CA361146316 | MATR3 | c.2245G>T (p.Glu749Ter) c.2389G>T (p.Glu797Ter) n.1698G>T c.1231G>T (p.Glu411Ter) c.1381G>T (p.Glu461Ter) n.5965G>T n.423G>T c.553G>T (p.Glu185Ter) c.1384G>T (p.Glu462Ter) c.1375G>T (p.Glu459Ter) c.1345G>T (p.Glu449Ter) | |
| 5 | g.139325537A>C | CA361146321 | MATR3 | c.2246A>C (p.Glu749Ala) c.2390A>C (p.Glu797Ala) n.1699A>C c.1232A>C (p.Glu411Ala) c.1382A>C (p.Glu461Ala) n.5966A>C n.424A>C c.554A>C (p.Glu185Ala) c.1385A>C (p.Glu462Ala) c.1376A>C (p.Glu459Ala) c.1346A>C (p.Glu449Ala) | |
| 5 | g.139325537A>G | CA361146318 | MATR3 | c.2246A>G (p.Glu749Gly) c.2390A>G (p.Glu797Gly) n.1699A>G c.1232A>G (p.Glu411Gly) c.1382A>G (p.Glu461Gly) n.5966A>G n.424A>G c.554A>G (p.Glu185Gly) c.1385A>G (p.Glu462Gly) c.1376A>G (p.Glu459Gly) c.1346A>G (p.Glu449Gly) | |
| 5 | g.139325537A>T | CA361146320 | MATR3 | c.2246A>T (p.Glu749Val) c.2390A>T (p.Glu797Val) n.1699A>T c.1232A>T (p.Glu411Val) c.1382A>T (p.Glu461Val) n.5966A>T n.424A>T c.554A>T (p.Glu185Val) c.1385A>T (p.Glu462Val) c.1376A>T (p.Glu459Val) c.1346A>T (p.Glu449Val) | |
| 5 | g.139325538G>A | CA446793632 | MATR3 | c.2247G>A (p.Glu749=) c.2391G>A (p.Glu797=) n.1700G>A c.1233G>A (p.Glu411=) c.1383G>A (p.Glu461=) n.5967G>A n.425G>A c.555G>A (p.Glu185=) c.1386G>A (p.Glu462=) c.1377G>A (p.Glu459=) c.1347G>A (p.Glu449=) | |
| 5 | g.139325538G>C | CA361146323 | MATR3 | c.2247G>C (p.Glu749Asp) c.2391G>C (p.Glu797Asp) n.1700G>C c.1233G>C (p.Glu411Asp) c.1383G>C (p.Glu461Asp) n.5967G>C n.425G>C c.555G>C (p.Glu185Asp) c.1386G>C (p.Glu462Asp) c.1377G>C (p.Glu459Asp) c.1347G>C (p.Glu449Asp) | |
| 5 | g.139325538G>T | CA361146325 | MATR3 | c.2247G>T (p.Glu749Asp) c.2391G>T (p.Glu797Asp) n.1700G>T c.1233G>T (p.Glu411Asp) c.1383G>T (p.Glu461Asp) n.5967G>T n.425G>T c.555G>T (p.Glu185Asp) c.1386G>T (p.Glu462Asp) c.1377G>T (p.Glu459Asp) c.1347G>T (p.Glu449Asp) | |
| 5 | g.139325539A>C | CA361146327 | MATR3 | c.2248A>C (p.Asn750His) c.2392A>C (p.Asn798His) n.1701A>C c.1234A>C (p.Asn412His) c.1384A>C (p.Asn462His) n.5968A>C n.426A>C c.556A>C (p.Asn186His) c.1387A>C (p.Asn463His) c.1378A>C (p.Asn460His) c.1348A>C (p.Asn450His) | |
| 5 | g.139325539A>G | CA361146329 | MATR3 | c.2248A>G (p.Asn750Asp) c.2392A>G (p.Asn798Asp) n.1701A>G c.1234A>G (p.Asn412Asp) c.1384A>G (p.Asn462Asp) n.5968A>G n.426A>G c.556A>G (p.Asn186Asp) c.1387A>G (p.Asn463Asp) c.1378A>G (p.Asn460Asp) c.1348A>G (p.Asn450Asp) | gnomAD v4 |
| 5 | g.139325539A>T | CA361146330 | MATR3 | c.2248A>T (p.Asn750Tyr) c.2392A>T (p.Asn798Tyr) n.1701A>T c.1234A>T (p.Asn412Tyr) c.1384A>T (p.Asn462Tyr) n.5968A>T n.426A>T c.556A>T (p.Asn186Tyr) c.1387A>T (p.Asn463Tyr) c.1378A>T (p.Asn460Tyr) c.1348A>T (p.Asn450Tyr) | |
| 5 | g.139325540A= | CA1586265091 | MATR3 | c.2249A= (p.Asn750=) c.2393A= (p.Asn798=) n.1702A= c.1235A= (p.Asn412=) c.1385A= (p.Asn462=) n.5969A= n.427A= c.557A= (p.Asn186=) c.1388A= (p.Asn463=) c.1379A= (p.Asn460=) c.1349A= (p.Asn450=) | |
| 5 | g.139325540A>C | CA361146333 | MATR3 | c.2249A>C (p.Asn750Thr) c.2393A>C (p.Asn798Thr) n.1702A>C c.1235A>C (p.Asn412Thr) c.1385A>C (p.Asn462Thr) n.5969A>C n.427A>C c.557A>C (p.Asn186Thr) c.1388A>C (p.Asn463Thr) c.1379A>C (p.Asn460Thr) c.1349A>C (p.Asn450Thr) | |
| 5 | g.139325540A>G | CA361146335 | MATR3 | c.2249A>G (p.Asn750Ser) c.2393A>G (p.Asn798Ser) n.1702A>G c.1235A>G (p.Asn412Ser) c.1385A>G (p.Asn462Ser) n.5969A>G n.427A>G c.557A>G (p.Asn186Ser) c.1388A>G (p.Asn463Ser) c.1379A>G (p.Asn460Ser) c.1349A>G (p.Asn450Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325540A>T | CA361146336 | MATR3 | c.2249A>T (p.Asn750Ile) c.2393A>T (p.Asn798Ile) n.1702A>T c.1235A>T (p.Asn412Ile) c.1385A>T (p.Asn462Ile) n.5969A>T n.427A>T c.557A>T (p.Asn186Ile) c.1388A>T (p.Asn463Ile) c.1379A>T (p.Asn460Ile) c.1349A>T (p.Asn450Ile) | |
| 5 | g.139325541C>A | CA3433399 | MATR3 | c.2250C>A (p.Asn750Lys) c.2394C>A (p.Asn798Lys) n.1703C>A c.1236C>A (p.Asn412Lys) c.1386C>A (p.Asn462Lys) n.5970C>A n.428C>A c.558C>A (p.Asn186Lys) c.1389C>A (p.Asn463Lys) c.1380C>A (p.Asn460Lys) c.1350C>A (p.Asn450Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325541C= | CA1586265093 | MATR3 | c.2250C= (p.Asn750=) c.2394C= (p.Asn798=) n.1703C= c.1236C= (p.Asn412=) c.1386C= (p.Asn462=) n.5970C= n.428C= c.558C= (p.Asn186=) c.1389C= (p.Asn463=) c.1380C= (p.Asn460=) c.1350C= (p.Asn450=) | |
| 5 | g.139325541C>G | CA361146338 | MATR3 | c.2250C>G (p.Asn750Lys) c.2394C>G (p.Asn798Lys) n.1703C>G c.1236C>G (p.Asn412Lys) c.1386C>G (p.Asn462Lys) n.5970C>G n.428C>G c.558C>G (p.Asn186Lys) c.1389C>G (p.Asn463Lys) c.1380C>G (p.Asn460Lys) c.1350C>G (p.Asn450Lys) | |
| 5 | g.139325541C>T | CA3433398 | MATR3 | c.2250C>T (p.Asn750=) c.2394C>T (p.Asn798=) n.1703C>T c.1236C>T (p.Asn412=) c.1386C>T (p.Asn462=) n.5970C>T n.428C>T c.558C>T (p.Asn186=) c.1389C>T (p.Asn463=) c.1380C>T (p.Asn460=) c.1350C>T (p.Asn450=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325542G>A | CA3433400 | MATR3 | c.2251G>A (p.Ala751Thr) c.2395G>A (p.Ala799Thr) n.1704G>A c.1237G>A (p.Ala413Thr) c.1387G>A (p.Ala463Thr) n.5971G>A n.429G>A c.559G>A (p.Ala187Thr) c.1390G>A (p.Ala464Thr) c.1381G>A (p.Ala461Thr) c.1351G>A (p.Ala451Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325542G>C | CA361146344 | MATR3 | c.2251G>C (p.Ala751Pro) c.2395G>C (p.Ala799Pro) n.1704G>C c.1237G>C (p.Ala413Pro) c.1387G>C (p.Ala463Pro) n.5971G>C n.429G>C c.559G>C (p.Ala187Pro) c.1390G>C (p.Ala464Pro) c.1381G>C (p.Ala461Pro) c.1351G>C (p.Ala451Pro) | |
| 5 | g.139325542G= | CA1586265098 | MATR3 | c.2251G= (p.Ala751=) c.2395G= (p.Ala799=) n.1704G= c.1237G= (p.Ala413=) c.1387G= (p.Ala463=) n.5971G= n.429G= c.559G= (p.Ala187=) c.1390G= (p.Ala464=) c.1381G= (p.Ala461=) c.1351G= (p.Ala451=) | |
| 5 | g.139325542G>T | CA361146341 | MATR3 | c.2251G>T (p.Ala751Ser) c.2395G>T (p.Ala799Ser) n.1704G>T c.1237G>T (p.Ala413Ser) c.1387G>T (p.Ala463Ser) n.5971G>T n.429G>T c.559G>T (p.Ala187Ser) c.1390G>T (p.Ala464Ser) c.1381G>T (p.Ala461Ser) c.1351G>T (p.Ala451Ser) | |
| 5 | g.139325543C>A | CA361146346 | MATR3 | c.2252C>A (p.Ala751Asp) c.2396C>A (p.Ala799Asp) n.1705C>A c.1238C>A (p.Ala413Asp) c.1388C>A (p.Ala463Asp) n.5972C>A n.430C>A c.560C>A (p.Ala187Asp) c.1391C>A (p.Ala464Asp) c.1382C>A (p.Ala461Asp) c.1352C>A (p.Ala451Asp) | |
| 5 | g.139325543C>G | CA361146347 | MATR3 | c.2252C>G (p.Ala751Gly) c.2396C>G (p.Ala799Gly) n.1705C>G c.1238C>G (p.Ala413Gly) c.1388C>G (p.Ala463Gly) n.5972C>G n.430C>G c.560C>G (p.Ala187Gly) c.1391C>G (p.Ala464Gly) c.1382C>G (p.Ala461Gly) c.1352C>G (p.Ala451Gly) | |
| 5 | g.139325543C>T | CA361146349 | MATR3 | c.2252C>T (p.Ala751Val) c.2396C>T (p.Ala799Val) n.1705C>T c.1238C>T (p.Ala413Val) c.1388C>T (p.Ala463Val) n.5972C>T n.430C>T c.560C>T (p.Ala187Val) c.1391C>T (p.Ala464Val) c.1382C>T (p.Ala461Val) c.1352C>T (p.Ala451Val) | |
| 5 | g.139325543_139325546delinsCTGA | CA1586265100 | MATR3 | c.2252_2255delinsCTGA (p.Ala751=) c.2396_2399delinsCTGA (p.Ala799=) n.1705_1708delinsCTGA c.1238_1241delinsCTGA (p.Ala413=) c.1388_1391delinsCTGA (p.Ala463=) n.5972_5975delinsCTGA n.430_433delinsCTGA c.560_563delinsCTGA (p.Ala187=) c.1391_1394delinsCTGA (p.Ala464=) c.1382_1385delinsCTGA (p.Ala461=) c.1352_1355delinsCTGA (p.Ala451=) | |
| 5 | g.139325544T>A | CA446793640 | MATR3 | c.2253T>A (p.Ala751=) c.2397T>A (p.Ala799=) n.1706T>A c.1239T>A (p.Ala413=) c.1389T>A (p.Ala463=) n.5973T>A n.431T>A c.561T>A (p.Ala187=) c.1392T>A (p.Ala464=) c.1383T>A (p.Ala461=) c.1353T>A (p.Ala451=) | |
| 5 | g.139325544T>C | CA446793642 | MATR3 | c.2253T>C (p.Ala751=) c.2397T>C (p.Ala799=) n.1706T>C c.1239T>C (p.Ala413=) c.1389T>C (p.Ala463=) n.5973T>C n.431T>C c.561T>C (p.Ala187=) c.1392T>C (p.Ala464=) c.1383T>C (p.Ala461=) c.1353T>C (p.Ala451=) | |
| 5 | g.139325544T>G | CA446793643 | MATR3 | c.2253T>G (p.Ala751=) c.2397T>G (p.Ala799=) n.1706T>G c.1239T>G (p.Ala413=) c.1389T>G (p.Ala463=) n.5973T>G n.431T>G c.561T>G (p.Ala187=) c.1392T>G (p.Ala464=) c.1383T>G (p.Ala461=) c.1353T>G (p.Ala451=) | |
| 5 | g.139325548_139325550del | CA128241063 | MATR3 | c.2257_2259del (p.Asp753del) c.2401_2403del (p.Asp801del) n.1710_1712del c.1243_1245del (p.Asp415del) c.1393_1395del (p.Asp465del) n.5977_5979del n.435_437del c.565_567del (p.Asp189del) c.1396_1398del (p.Asp466del) c.1387_1389del (p.Asp463del) c.1357_1359del (p.Asp453del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |