Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
5 | g.139325546A>C | CA361146359 | MATR3 | c.2255A>C (p.Asp752Ala) c.2399A>C (p.Asp800Ala) n.1708A>C c.1241A>C (p.Asp414Ala) c.1391A>C (p.Asp464Ala) n.5975A>C n.433A>C c.563A>C (p.Asp188Ala) c.1394A>C (p.Asp465Ala) c.1385A>C (p.Asp462Ala) c.1355A>C (p.Asp452Ala) | gnomAD v4 |
5 | g.139325546A>G | CA361146356 | MATR3 | c.2255A>G (p.Asp752Gly) c.2399A>G (p.Asp800Gly) n.1708A>G c.1241A>G (p.Asp414Gly) c.1391A>G (p.Asp464Gly) n.5975A>G n.433A>G c.563A>G (p.Asp188Gly) c.1394A>G (p.Asp465Gly) c.1385A>G (p.Asp462Gly) c.1355A>G (p.Asp452Gly) | |
5 | g.139325546A>T | CA361146358 | MATR3 | c.2255A>T (p.Asp752Val) c.2399A>T (p.Asp800Val) n.1708A>T c.1241A>T (p.Asp414Val) c.1391A>T (p.Asp464Val) n.5975A>T n.433A>T c.563A>T (p.Asp188Val) c.1394A>T (p.Asp465Val) c.1385A>T (p.Asp462Val) c.1355A>T (p.Asp452Val) | |
5 | g.139325547T>A | CA361146361 | MATR3 | c.2256T>A (p.Asp752Glu) c.2400T>A (p.Asp800Glu) n.1709T>A c.1242T>A (p.Asp414Glu) c.1392T>A (p.Asp464Glu) n.5976T>A n.434T>A c.564T>A (p.Asp188Glu) c.1395T>A (p.Asp465Glu) c.1386T>A (p.Asp462Glu) c.1356T>A (p.Asp452Glu) | |
5 | g.139325547T>C | CA446793649 | MATR3 | c.2256T>C (p.Asp752=) c.2400T>C (p.Asp800=) n.1709T>C c.1242T>C (p.Asp414=) c.1392T>C (p.Asp464=) n.5976T>C n.434T>C c.564T>C (p.Asp188=) c.1395T>C (p.Asp465=) c.1386T>C (p.Asp462=) c.1356T>C (p.Asp452=) | |
5 | g.139325547T>G | CA3433401 | MATR3 | c.2256T>G (p.Asp752Glu) c.2400T>G (p.Asp800Glu) n.1709T>G c.1242T>G (p.Asp414Glu) c.1392T>G (p.Asp464Glu) n.5976T>G n.434T>G c.564T>G (p.Asp188Glu) c.1395T>G (p.Asp465Glu) c.1386T>G (p.Asp462Glu) c.1356T>G (p.Asp452Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325547T= | CA1586265107 | MATR3 | c.2256T= (p.Asp752=) c.2400T= (p.Asp800=) n.1709T= c.1242T= (p.Asp414=) c.1392T= (p.Asp464=) n.5976T= n.434T= c.564T= (p.Asp188=) c.1395T= (p.Asp465=) c.1386T= (p.Asp462=) c.1356T= (p.Asp452=) | |
5 | g.139325548G>A | CA361146364 | MATR3 | c.2257G>A (p.Asp753Asn) c.2401G>A (p.Asp801Asn) n.1710G>A c.1243G>A (p.Asp415Asn) c.1393G>A (p.Asp465Asn) n.5977G>A n.435G>A c.565G>A (p.Asp189Asn) c.1396G>A (p.Asp466Asn) c.1387G>A (p.Asp463Asn) c.1357G>A (p.Asp453Asn) | |
5 | g.139325548G>C | CA361146366 | MATR3 | c.2257G>C (p.Asp753His) c.2401G>C (p.Asp801His) n.1710G>C c.1243G>C (p.Asp415His) c.1393G>C (p.Asp465His) n.5977G>C n.435G>C c.565G>C (p.Asp189His) c.1396G>C (p.Asp466His) c.1387G>C (p.Asp463His) c.1357G>C (p.Asp453His) | |
5 | g.139325548G>T | CA361146367 | MATR3 | c.2257G>T (p.Asp753Tyr) c.2401G>T (p.Asp801Tyr) n.1710G>T c.1243G>T (p.Asp415Tyr) c.1393G>T (p.Asp465Tyr) n.5977G>T n.435G>T c.565G>T (p.Asp189Tyr) c.1396G>T (p.Asp466Tyr) c.1387G>T (p.Asp463Tyr) c.1357G>T (p.Asp453Tyr) | |
5 | g.139325549A>C | CA361146369 | MATR3 | c.2258A>C (p.Asp753Ala) c.2402A>C (p.Asp801Ala) n.1711A>C c.1244A>C (p.Asp415Ala) c.1394A>C (p.Asp465Ala) n.5978A>C n.436A>C c.566A>C (p.Asp189Ala) c.1397A>C (p.Asp466Ala) c.1388A>C (p.Asp463Ala) c.1358A>C (p.Asp453Ala) | |
5 | g.139325549A>G | CA361146372 | MATR3 | c.2258A>G (p.Asp753Gly) c.2402A>G (p.Asp801Gly) n.1711A>G c.1244A>G (p.Asp415Gly) c.1394A>G (p.Asp465Gly) n.5978A>G n.436A>G c.566A>G (p.Asp189Gly) c.1397A>G (p.Asp466Gly) c.1388A>G (p.Asp463Gly) c.1358A>G (p.Asp453Gly) | |
5 | g.139325549A>T | CA361146371 | MATR3 | c.2258A>T (p.Asp753Val) c.2402A>T (p.Asp801Val) n.1711A>T c.1244A>T (p.Asp415Val) c.1394A>T (p.Asp465Val) n.5978A>T n.436A>T c.566A>T (p.Asp189Val) c.1397A>T (p.Asp466Val) c.1388A>T (p.Asp463Val) c.1358A>T (p.Asp453Val) | gnomAD v4 |
5 | g.139325550T>A | CA3433402 | MATR3 | c.2259T>A (p.Asp753Glu) c.2403T>A (p.Asp801Glu) n.1712T>A c.1245T>A (p.Asp415Glu) c.1395T>A (p.Asp465Glu) n.5979T>A n.437T>A c.567T>A (p.Asp189Glu) c.1398T>A (p.Asp466Glu) c.1389T>A (p.Asp463Glu) c.1359T>A (p.Asp453Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325550T>C | CA446793654 | MATR3 | c.2259T>C (p.Asp753=) c.2403T>C (p.Asp801=) n.1712T>C c.1245T>C (p.Asp415=) c.1395T>C (p.Asp465=) n.5979T>C n.437T>C c.567T>C (p.Asp189=) c.1398T>C (p.Asp466=) c.1389T>C (p.Asp463=) c.1359T>C (p.Asp453=) | |
5 | g.139325550T>G | CA361146375 | MATR3 | c.2259T>G (p.Asp753Glu) c.2403T>G (p.Asp801Glu) n.1712T>G c.1245T>G (p.Asp415Glu) c.1395T>G (p.Asp465Glu) n.5979T>G n.437T>G c.567T>G (p.Asp189Glu) c.1398T>G (p.Asp466Glu) c.1389T>G (p.Asp463Glu) c.1359T>G (p.Asp453Glu) | |
5 | g.139325550T= | CA1586265109 | MATR3 | c.2259T= (p.Asp753=) c.2403T= (p.Asp801=) n.1712T= c.1245T= (p.Asp415=) c.1395T= (p.Asp465=) n.5979T= n.437T= c.567T= (p.Asp189=) c.1398T= (p.Asp466=) c.1389T= (p.Asp463=) c.1359T= (p.Asp453=) | |
5 | g.139325551C>A | CA361146377 | MATR3 | c.2260C>A (p.Pro754Thr) c.2404C>A (p.Pro802Thr) n.1713C>A c.1246C>A (p.Pro416Thr) c.1396C>A (p.Pro466Thr) n.5980C>A n.438C>A c.568C>A (p.Pro190Thr) c.1399C>A (p.Pro467Thr) c.1390C>A (p.Pro464Thr) c.1360C>A (p.Pro454Thr) | |
5 | g.139325551C= | CA1586265113 | MATR3 | c.2260C= (p.Pro754=) c.2404C= (p.Pro802=) n.1713C= c.1246C= (p.Pro416=) c.1396C= (p.Pro466=) n.5980C= n.438C= c.568C= (p.Pro190=) c.1399C= (p.Pro467=) c.1390C= (p.Pro464=) c.1360C= (p.Pro454=) | |
5 | g.139325551C>G | CA361146379 | MATR3 | c.2260C>G (p.Pro754Ala) c.2404C>G (p.Pro802Ala) n.1713C>G c.1246C>G (p.Pro416Ala) c.1396C>G (p.Pro466Ala) n.5980C>G n.438C>G c.568C>G (p.Pro190Ala) c.1399C>G (p.Pro467Ala) c.1390C>G (p.Pro464Ala) c.1360C>G (p.Pro454Ala) | dbSNP gnomAD v2 |
5 | g.139325551C>T | CA361146381 | MATR3 | c.2260C>T (p.Pro754Ser) c.2404C>T (p.Pro802Ser) n.1713C>T c.1246C>T (p.Pro416Ser) c.1396C>T (p.Pro466Ser) n.5980C>T n.438C>T c.568C>T (p.Pro190Ser) c.1399C>T (p.Pro467Ser) c.1390C>T (p.Pro464Ser) c.1360C>T (p.Pro454Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139325552C>A | CA361146382 | MATR3 | c.2261C>A (p.Pro754His) c.2405C>A (p.Pro802His) n.1714C>A c.1247C>A (p.Pro416His) c.1397C>A (p.Pro466His) n.5981C>A n.439C>A c.569C>A (p.Pro190His) c.1400C>A (p.Pro467His) c.1391C>A (p.Pro464His) c.1361C>A (p.Pro454His) | |
5 | g.139325552C= | CA1586265116 | MATR3 | c.2261C= (p.Pro754=) c.2405C= (p.Pro802=) n.1714C= c.1247C= (p.Pro416=) c.1397C= (p.Pro466=) n.5981C= n.439C= c.569C= (p.Pro190=) c.1400C= (p.Pro467=) c.1391C= (p.Pro464=) c.1361C= (p.Pro454=) | |
5 | g.139325552C>G | CA361146384 | MATR3 | c.2261C>G (p.Pro754Arg) c.2405C>G (p.Pro802Arg) n.1714C>G c.1247C>G (p.Pro416Arg) c.1397C>G (p.Pro466Arg) n.5981C>G n.439C>G c.569C>G (p.Pro190Arg) c.1400C>G (p.Pro467Arg) c.1391C>G (p.Pro464Arg) c.1361C>G (p.Pro454Arg) | |
5 | g.139325552C>T | CA361146386 | MATR3 | c.2261C>T (p.Pro754Leu) c.2405C>T (p.Pro802Leu) n.1714C>T c.1247C>T (p.Pro416Leu) c.1397C>T (p.Pro466Leu) n.5981C>T n.439C>T c.569C>T (p.Pro190Leu) c.1400C>T (p.Pro467Leu) c.1391C>T (p.Pro464Leu) c.1361C>T (p.Pro454Leu) | dbSNP |
5 | g.139325553C>A | CA446793658 | MATR3 | c.2262C>A (p.Pro754=) c.2406C>A (p.Pro802=) n.1715C>A c.1248C>A (p.Pro416=) c.1398C>A (p.Pro466=) n.5982C>A n.440C>A c.570C>A (p.Pro190=) c.1401C>A (p.Pro467=) c.1392C>A (p.Pro464=) c.1362C>A (p.Pro454=) | |
5 | g.139325553C= | CA1586265118 | MATR3 | c.2262C= (p.Pro754=) c.2406C= (p.Pro802=) n.1715C= c.1248C= (p.Pro416=) c.1398C= (p.Pro466=) n.5982C= n.440C= c.570C= (p.Pro190=) c.1401C= (p.Pro467=) c.1392C= (p.Pro464=) c.1362C= (p.Pro454=) | |
5 | g.139325553C>G | CA446793660 | MATR3 | c.2262C>G (p.Pro754=) c.2406C>G (p.Pro802=) n.1715C>G c.1248C>G (p.Pro416=) c.1398C>G (p.Pro466=) n.5982C>G n.440C>G c.570C>G (p.Pro190=) c.1401C>G (p.Pro467=) c.1392C>G (p.Pro464=) c.1362C>G (p.Pro454=) | |
5 | g.139325553C>T | CA3433403 | MATR3 | c.2262C>T (p.Pro754=) c.2406C>T (p.Pro802=) n.1715C>T c.1248C>T (p.Pro416=) c.1398C>T (p.Pro466=) n.5982C>T n.440C>T c.570C>T (p.Pro190=) c.1401C>T (p.Pro467=) c.1392C>T (p.Pro464=) c.1362C>T (p.Pro454=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325554A= | CA1586265121 | MATR3 | c.2263A= (p.Asn755=) c.2407A= (p.Asn803=) n.1716A= c.1249A= (p.Asn417=) c.1399A= (p.Asn467=) n.5983A= n.441A= c.571A= (p.Asn191=) c.1402A= (p.Asn468=) c.1393A= (p.Asn465=) c.1363A= (p.Asn455=) | |
5 | g.139325554A>C | CA361146388 | MATR3 | c.2263A>C (p.Asn755His) c.2407A>C (p.Asn803His) n.1716A>C c.1249A>C (p.Asn417His) c.1399A>C (p.Asn467His) n.5983A>C n.441A>C c.571A>C (p.Asn191His) c.1402A>C (p.Asn468His) c.1393A>C (p.Asn465His) c.1363A>C (p.Asn455His) | |
5 | g.139325554A>G | CA361146390 | MATR3 | c.2263A>G (p.Asn755Asp) c.2407A>G (p.Asn803Asp) n.1716A>G c.1249A>G (p.Asn417Asp) c.1399A>G (p.Asn467Asp) n.5983A>G n.441A>G c.571A>G (p.Asn191Asp) c.1402A>G (p.Asn468Asp) c.1393A>G (p.Asn465Asp) c.1363A>G (p.Asn455Asp) | dbSNP |
5 | g.139325554A>T | CA361146392 | MATR3 | c.2263A>T (p.Asn755Tyr) c.2407A>T (p.Asn803Tyr) n.1716A>T c.1249A>T (p.Asn417Tyr) c.1399A>T (p.Asn467Tyr) n.5983A>T n.441A>T c.571A>T (p.Asn191Tyr) c.1402A>T (p.Asn468Tyr) c.1393A>T (p.Asn465Tyr) c.1363A>T (p.Asn455Tyr) | |
5 | g.139325555A= | CA1586265123 | MATR3 | c.2264A= (p.Asn755=) c.2408A= (p.Asn803=) n.1717A= c.1250A= (p.Asn417=) c.1400A= (p.Asn467=) n.5984A= n.442A= c.572A= (p.Asn191=) c.1403A= (p.Asn468=) c.1394A= (p.Asn465=) c.1364A= (p.Asn455=) | |
5 | g.139325555A>C | CA361146397 | MATR3 | c.2264A>C (p.Asn755Thr) c.2408A>C (p.Asn803Thr) n.1717A>C c.1250A>C (p.Asn417Thr) c.1400A>C (p.Asn467Thr) n.5984A>C n.442A>C c.572A>C (p.Asn191Thr) c.1403A>C (p.Asn468Thr) c.1394A>C (p.Asn465Thr) c.1364A>C (p.Asn455Thr) | |
5 | g.139325555A>G | CA3433404 | MATR3 | c.2264A>G (p.Asn755Ser) c.2408A>G (p.Asn803Ser) n.1717A>G c.1250A>G (p.Asn417Ser) c.1400A>G (p.Asn467Ser) n.5984A>G n.442A>G c.572A>G (p.Asn191Ser) c.1403A>G (p.Asn468Ser) c.1394A>G (p.Asn465Ser) c.1364A>G (p.Asn455Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325555A>T | CA361146394 | MATR3 | c.2264A>T (p.Asn755Ile) c.2408A>T (p.Asn803Ile) n.1717A>T c.1250A>T (p.Asn417Ile) c.1400A>T (p.Asn467Ile) n.5984A>T n.442A>T c.572A>T (p.Asn191Ile) c.1403A>T (p.Asn468Ile) c.1394A>T (p.Asn465Ile) c.1364A>T (p.Asn455Ile) | |
5 | g.139325556C>A | CA361146399 | MATR3 | c.2265C>A (p.Asn755Lys) c.2409C>A (p.Asn803Lys) n.1718C>A c.1251C>A (p.Asn417Lys) c.1401C>A (p.Asn467Lys) n.5985C>A n.443C>A c.573C>A (p.Asn191Lys) c.1404C>A (p.Asn468Lys) c.1395C>A (p.Asn465Lys) c.1365C>A (p.Asn455Lys) | |
5 | g.139325556C= | CA1586265126 | MATR3 | c.2265C= (p.Asn755=) c.2409C= (p.Asn803=) n.1718C= c.1251C= (p.Asn417=) c.1401C= (p.Asn467=) n.5985C= n.443C= c.573C= (p.Asn191=) c.1404C= (p.Asn468=) c.1395C= (p.Asn465=) c.1365C= (p.Asn455=) | |
5 | g.139325556C>G | CA361146400 | MATR3 | c.2265C>G (p.Asn755Lys) c.2409C>G (p.Asn803Lys) n.1718C>G c.1251C>G (p.Asn417Lys) c.1401C>G (p.Asn467Lys) n.5985C>G n.443C>G c.573C>G (p.Asn191Lys) c.1404C>G (p.Asn468Lys) c.1395C>G (p.Asn465Lys) c.1365C>G (p.Asn455Lys) | gnomAD v4 |
5 | g.139325556C>T | CA446793661 | MATR3 | c.2265C>T (p.Asn755=) c.2409C>T (p.Asn803=) n.1718C>T c.1251C>T (p.Asn417=) c.1401C>T (p.Asn467=) n.5985C>T n.443C>T c.573C>T (p.Asn191=) c.1404C>T (p.Asn468=) c.1395C>T (p.Asn465=) c.1365C>T (p.Asn455=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325557A>C | CA361146403 | MATR3 | c.2266A>C (p.Lys756Gln) c.2410A>C (p.Lys804Gln) n.1719A>C c.1252A>C (p.Lys418Gln) c.1402A>C (p.Lys468Gln) n.5986A>C n.444A>C c.574A>C (p.Lys192Gln) c.1405A>C (p.Lys469Gln) c.1396A>C (p.Lys466Gln) c.1366A>C (p.Lys456Gln) | |
5 | g.139325557A>G | CA361146404 | MATR3 | c.2266A>G (p.Lys756Glu) c.2410A>G (p.Lys804Glu) n.1719A>G c.1252A>G (p.Lys418Glu) c.1402A>G (p.Lys468Glu) n.5986A>G n.444A>G c.574A>G (p.Lys192Glu) c.1405A>G (p.Lys469Glu) c.1396A>G (p.Lys466Glu) c.1366A>G (p.Lys456Glu) | gnomAD v4 |
5 | g.139325557A>T | CA361146406 | MATR3 | c.2266A>T (p.Lys756Ter) c.2410A>T (p.Lys804Ter) n.1719A>T c.1252A>T (p.Lys418Ter) c.1402A>T (p.Lys468Ter) n.5986A>T n.444A>T c.574A>T (p.Lys192Ter) c.1405A>T (p.Lys469Ter) c.1396A>T (p.Lys466Ter) c.1366A>T (p.Lys456Ter) | |
5 | g.139325558A>C | CA361146408 | MATR3 | c.2267A>C (p.Lys756Thr) c.2411A>C (p.Lys804Thr) n.1720A>C c.1253A>C (p.Lys418Thr) c.1403A>C (p.Lys468Thr) n.5987A>C n.445A>C c.575A>C (p.Lys192Thr) c.1406A>C (p.Lys469Thr) c.1397A>C (p.Lys466Thr) c.1367A>C (p.Lys456Thr) | |
5 | g.139325558A>G | CA361146409 | MATR3 | c.2267A>G (p.Lys756Arg) c.2411A>G (p.Lys804Arg) n.1720A>G c.1253A>G (p.Lys418Arg) c.1403A>G (p.Lys468Arg) n.5987A>G n.445A>G c.575A>G (p.Lys192Arg) c.1406A>G (p.Lys469Arg) c.1397A>G (p.Lys466Arg) c.1367A>G (p.Lys456Arg) | gnomAD v4 |
5 | g.139325558A>T | CA361146411 | MATR3 | c.2267A>T (p.Lys756Ile) c.2411A>T (p.Lys804Ile) n.1720A>T c.1253A>T (p.Lys418Ile) c.1403A>T (p.Lys468Ile) n.5987A>T n.445A>T c.575A>T (p.Lys192Ile) c.1406A>T (p.Lys469Ile) c.1397A>T (p.Lys466Ile) c.1367A>T (p.Lys456Ile) | |
5 | g.139325559A>C | CA361146413 | MATR3 | c.2268A>C (p.Lys756Asn) c.2412A>C (p.Lys804Asn) n.1721A>C c.1254A>C (p.Lys418Asn) c.1404A>C (p.Lys468Asn) n.5988A>C n.446A>C c.576A>C (p.Lys192Asn) c.1407A>C (p.Lys469Asn) c.1398A>C (p.Lys466Asn) c.1368A>C (p.Lys456Asn) | |
5 | g.139325559A>G | CA446793662 | MATR3 | c.2268A>G (p.Lys756=) c.2412A>G (p.Lys804=) n.1721A>G c.1254A>G (p.Lys418=) c.1404A>G (p.Lys468=) n.5988A>G n.446A>G c.576A>G (p.Lys192=) c.1407A>G (p.Lys469=) c.1398A>G (p.Lys466=) c.1368A>G (p.Lys456=) | |
5 | g.139325559A>T | CA361146412 | MATR3 | c.2268A>T (p.Lys756Asn) c.2412A>T (p.Lys804Asn) n.1721A>T c.1254A>T (p.Lys418Asn) c.1404A>T (p.Lys468Asn) n.5988A>T n.446A>T c.576A>T (p.Lys192Asn) c.1407A>T (p.Lys469Asn) c.1398A>T (p.Lys466Asn) c.1368A>T (p.Lys456Asn) | |
5 | g.139325560G>A | CA361146415 | MATR3 | c.2269G>A (p.Asp757Asn) c.2413G>A (p.Asp805Asn) n.1722G>A c.1255G>A (p.Asp419Asn) c.1405G>A (p.Asp469Asn) n.5989G>A n.447G>A c.577G>A (p.Asp193Asn) c.1408G>A (p.Asp470Asn) c.1399G>A (p.Asp467Asn) c.1369G>A (p.Asp457Asn) | |
5 | g.139325560G>C | CA361146417 | MATR3 | c.2269G>C (p.Asp757His) c.2413G>C (p.Asp805His) n.1722G>C c.1255G>C (p.Asp419His) c.1405G>C (p.Asp469His) n.5989G>C n.447G>C c.577G>C (p.Asp193His) c.1408G>C (p.Asp470His) c.1399G>C (p.Asp467His) c.1369G>C (p.Asp457His) | |
5 | g.139325560G>T | CA361146418 | MATR3 | c.2269G>T (p.Asp757Tyr) c.2413G>T (p.Asp805Tyr) n.1722G>T c.1255G>T (p.Asp419Tyr) c.1405G>T (p.Asp469Tyr) n.5989G>T n.447G>T c.577G>T (p.Asp193Tyr) c.1408G>T (p.Asp470Tyr) c.1399G>T (p.Asp467Tyr) c.1369G>T (p.Asp457Tyr) | |
5 | g.139325561A= | CA1586265131 | MATR3 | c.2270A= (p.Asp757=) c.2414A= (p.Asp805=) n.1723A= c.1256A= (p.Asp419=) c.1406A= (p.Asp469=) n.5990A= n.448A= c.578A= (p.Asp193=) c.1409A= (p.Asp470=) c.1400A= (p.Asp467=) c.1370A= (p.Asp457=) | |
5 | g.139325561A>C | CA361146420 | MATR3 | c.2270A>C (p.Asp757Ala) c.2414A>C (p.Asp805Ala) n.1723A>C c.1256A>C (p.Asp419Ala) c.1406A>C (p.Asp469Ala) n.5990A>C n.448A>C c.578A>C (p.Asp193Ala) c.1409A>C (p.Asp470Ala) c.1400A>C (p.Asp467Ala) c.1370A>C (p.Asp457Ala) | |
5 | g.139325561A>G | CA3433405 | MATR3 | c.2270A>G (p.Asp757Gly) c.2414A>G (p.Asp805Gly) n.1723A>G c.1256A>G (p.Asp419Gly) c.1406A>G (p.Asp469Gly) n.5990A>G n.448A>G c.578A>G (p.Asp193Gly) c.1409A>G (p.Asp470Gly) c.1400A>G (p.Asp467Gly) c.1370A>G (p.Asp457Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325561A>T | CA361146422 | MATR3 | c.2270A>T (p.Asp757Val) c.2414A>T (p.Asp805Val) n.1723A>T c.1256A>T (p.Asp419Val) c.1406A>T (p.Asp469Val) n.5990A>T n.448A>T c.578A>T (p.Asp193Val) c.1409A>T (p.Asp470Val) c.1400A>T (p.Asp467Val) c.1370A>T (p.Asp457Val) | |
5 | g.139325562T>A | CA361146424 | MATR3 | c.2271T>A (p.Asp757Glu) c.2415T>A (p.Asp805Glu) n.1724T>A c.1257T>A (p.Asp419Glu) c.1407T>A (p.Asp469Glu) n.5991T>A n.449T>A c.579T>A (p.Asp193Glu) c.1410T>A (p.Asp470Glu) c.1401T>A (p.Asp467Glu) c.1371T>A (p.Asp457Glu) | |
5 | g.139325562T>C | CA3433406 | MATR3 | c.2271T>C (p.Asp757=) c.2415T>C (p.Asp805=) n.1724T>C c.1257T>C (p.Asp419=) c.1407T>C (p.Asp469=) n.5991T>C n.449T>C c.579T>C (p.Asp193=) c.1410T>C (p.Asp470=) c.1401T>C (p.Asp467=) c.1371T>C (p.Asp457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325562T>G | CA361146426 | MATR3 | c.2271T>G (p.Asp757Glu) c.2415T>G (p.Asp805Glu) n.1724T>G c.1257T>G (p.Asp419Glu) c.1407T>G (p.Asp469Glu) n.5991T>G n.449T>G c.579T>G (p.Asp193Glu) c.1410T>G (p.Asp470Glu) c.1401T>G (p.Asp467Glu) c.1371T>G (p.Asp457Glu) | |
5 | g.139325562T= | CA1586265135 | MATR3 | c.2271T= (p.Asp757=) c.2415T= (p.Asp805=) n.1724T= c.1257T= (p.Asp419=) c.1407T= (p.Asp469=) n.5991T= n.449T= c.579T= (p.Asp193=) c.1410T= (p.Asp470=) c.1401T= (p.Asp467=) c.1371T= (p.Asp457=) | |
5 | g.139325563A= | CA1586265143 | MATR3 | c.2272A= (p.Thr758=) c.2416A= (p.Thr806=) n.1725A= c.1258A= (p.Thr420=) c.1408A= (p.Thr470=) n.5992A= n.450A= c.580A= (p.Thr194=) c.1411A= (p.Thr471=) c.1402A= (p.Thr468=) c.1372A= (p.Thr458=) | |
5 | g.139325563A>C | CA361146428 | MATR3 | c.2272A>C (p.Thr758Pro) c.2416A>C (p.Thr806Pro) n.1725A>C c.1258A>C (p.Thr420Pro) c.1408A>C (p.Thr470Pro) n.5992A>C n.450A>C c.580A>C (p.Thr194Pro) c.1411A>C (p.Thr471Pro) c.1402A>C (p.Thr468Pro) c.1372A>C (p.Thr458Pro) | |
5 | g.139325563A>G | CA361146430 | MATR3 | c.2272A>G (p.Thr758Ala) c.2416A>G (p.Thr806Ala) n.1725A>G c.1258A>G (p.Thr420Ala) c.1408A>G (p.Thr470Ala) n.5992A>G n.450A>G c.580A>G (p.Thr194Ala) c.1411A>G (p.Thr471Ala) c.1402A>G (p.Thr468Ala) c.1372A>G (p.Thr458Ala) | dbSNP |
5 | g.139325563A>T | CA361146432 | MATR3 | c.2272A>T (p.Thr758Ser) c.2416A>T (p.Thr806Ser) n.1725A>T c.1258A>T (p.Thr420Ser) c.1408A>T (p.Thr470Ser) n.5992A>T n.450A>T c.580A>T (p.Thr194Ser) c.1411A>T (p.Thr471Ser) c.1402A>T (p.Thr468Ser) c.1372A>T (p.Thr458Ser) | |
5 | g.139325564C>A | CA3433407 | MATR3 | c.2273C>A (p.Thr758Lys) c.2417C>A (p.Thr806Lys) n.1726C>A c.1259C>A (p.Thr420Lys) c.1409C>A (p.Thr470Lys) n.5993C>A n.451C>A c.581C>A (p.Thr194Lys) c.1412C>A (p.Thr471Lys) c.1403C>A (p.Thr468Lys) c.1373C>A (p.Thr458Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325564C= | CA1586265150 | MATR3 | c.2273C= (p.Thr758=) c.2417C= (p.Thr806=) n.1726C= c.1259C= (p.Thr420=) c.1409C= (p.Thr470=) n.5993C= n.451C= c.581C= (p.Thr194=) c.1412C= (p.Thr471=) c.1403C= (p.Thr468=) c.1373C= (p.Thr458=) | |
5 | g.139325564C>G | CA3433408 | MATR3 | c.2273C>G (p.Thr758Arg) c.2417C>G (p.Thr806Arg) n.1726C>G c.1259C>G (p.Thr420Arg) c.1409C>G (p.Thr470Arg) n.5993C>G n.451C>G c.581C>G (p.Thr194Arg) c.1412C>G (p.Thr471Arg) c.1403C>G (p.Thr468Arg) c.1373C>G (p.Thr458Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325564C>T | CA361146435 | MATR3 | c.2273C>T (p.Thr758Ile) c.2417C>T (p.Thr806Ile) n.1726C>T c.1259C>T (p.Thr420Ile) c.1409C>T (p.Thr470Ile) n.5993C>T n.451C>T c.581C>T (p.Thr194Ile) c.1412C>T (p.Thr471Ile) c.1403C>T (p.Thr468Ile) c.1373C>T (p.Thr458Ile) | dbSNP |
5 | g.139325565A= | CA1586265160 | MATR3 | c.2274A= (p.Thr758=) c.2418A= (p.Thr806=) n.1727A= c.1260A= (p.Thr420=) c.1410A= (p.Thr470=) n.5994A= n.452A= c.582A= (p.Thr194=) c.1413A= (p.Thr471=) c.1404A= (p.Thr468=) c.1374A= (p.Thr458=) | |
5 | g.139325565A>C | CA446793667 | MATR3 | c.2274A>C (p.Thr758=) c.2418A>C (p.Thr806=) n.1727A>C c.1260A>C (p.Thr420=) c.1410A>C (p.Thr470=) n.5994A>C n.452A>C c.582A>C (p.Thr194=) c.1413A>C (p.Thr471=) c.1404A>C (p.Thr468=) c.1374A>C (p.Thr458=) | |
5 | g.139325565A>G | CA3433409 | MATR3 | c.2274A>G (p.Thr758=) c.2418A>G (p.Thr806=) n.1727A>G c.1260A>G (p.Thr420=) c.1410A>G (p.Thr470=) n.5994A>G n.452A>G c.582A>G (p.Thr194=) c.1413A>G (p.Thr471=) c.1404A>G (p.Thr468=) c.1374A>G (p.Thr458=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325565A>T | CA446793669 | MATR3 | c.2274A>T (p.Thr758=) c.2418A>T (p.Thr806=) n.1727A>T c.1260A>T (p.Thr420=) c.1410A>T (p.Thr470=) n.5994A>T n.452A>T c.582A>T (p.Thr194=) c.1413A>T (p.Thr471=) c.1404A>T (p.Thr468=) c.1374A>T (p.Thr458=) | |
5 | g.139325566A= | CA1586265165 | MATR3 | c.2275A= (p.Ser759=) c.2419A= (p.Ser807=) n.1728A= c.1261A= (p.Ser421=) c.1411A= (p.Ser471=) n.5995A= n.453A= c.583A= (p.Ser195=) c.1414A= (p.Ser472=) c.1405A= (p.Ser469=) c.1375A= (p.Ser459=) | |
5 | g.139325566A>C | CA361146438 | MATR3 | c.2275A>C (p.Ser759Arg) c.2419A>C (p.Ser807Arg) n.1728A>C c.1261A>C (p.Ser421Arg) c.1411A>C (p.Ser471Arg) n.5995A>C n.453A>C c.583A>C (p.Ser195Arg) c.1414A>C (p.Ser472Arg) c.1405A>C (p.Ser469Arg) c.1375A>C (p.Ser459Arg) | |
5 | g.139325566A>G | CA361146439 | MATR3 | c.2275A>G (p.Ser759Gly) c.2419A>G (p.Ser807Gly) n.1728A>G c.1261A>G (p.Ser421Gly) c.1411A>G (p.Ser471Gly) n.5995A>G n.453A>G c.583A>G (p.Ser195Gly) c.1414A>G (p.Ser472Gly) c.1405A>G (p.Ser469Gly) c.1375A>G (p.Ser459Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139325566A>T | CA361146441 | MATR3 | c.2275A>T (p.Ser759Cys) c.2419A>T (p.Ser807Cys) n.1728A>T c.1261A>T (p.Ser421Cys) c.1411A>T (p.Ser471Cys) n.5995A>T n.453A>T c.583A>T (p.Ser195Cys) c.1414A>T (p.Ser472Cys) c.1405A>T (p.Ser469Cys) c.1375A>T (p.Ser459Cys) | |
5 | g.139325567G>A | CA361146446 | MATR3 | c.2276G>A (p.Ser759Asn) c.2420G>A (p.Ser807Asn) n.1729G>A c.1262G>A (p.Ser421Asn) c.1412G>A (p.Ser471Asn) n.5996G>A n.454G>A c.584G>A (p.Ser195Asn) c.1415G>A (p.Ser472Asn) c.1406G>A (p.Ser469Asn) c.1376G>A (p.Ser459Asn) | |
5 | g.139325567G>C | CA361146445 | MATR3 | c.2276G>C (p.Ser759Thr) c.2420G>C (p.Ser807Thr) n.1729G>C c.1262G>C (p.Ser421Thr) c.1412G>C (p.Ser471Thr) n.5996G>C n.454G>C c.584G>C (p.Ser195Thr) c.1415G>C (p.Ser472Thr) c.1406G>C (p.Ser469Thr) c.1376G>C (p.Ser459Thr) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139325567G= | CA1586265169 | MATR3 | c.2276G= (p.Ser759=) c.2420G= (p.Ser807=) n.1729G= c.1262G= (p.Ser421=) c.1412G= (p.Ser471=) n.5996G= n.454G= c.584G= (p.Ser195=) c.1415G= (p.Ser472=) c.1406G= (p.Ser469=) c.1376G= (p.Ser459=) | |
5 | g.139325567G>T | CA361146443 | MATR3 | c.2276G>T (p.Ser759Ile) c.2420G>T (p.Ser807Ile) n.1729G>T c.1262G>T (p.Ser421Ile) c.1412G>T (p.Ser471Ile) n.5996G>T n.454G>T c.584G>T (p.Ser195Ile) c.1415G>T (p.Ser472Ile) c.1406G>T (p.Ser469Ile) c.1376G>T (p.Ser459Ile) | |
5 | g.139325568T>A | CA361146448 | MATR3 | c.2277T>A (p.Ser759Arg) c.2421T>A (p.Ser807Arg) n.1730T>A c.1263T>A (p.Ser421Arg) c.1413T>A (p.Ser471Arg) n.5997T>A n.455T>A c.585T>A (p.Ser195Arg) c.1416T>A (p.Ser472Arg) c.1407T>A (p.Ser469Arg) c.1377T>A (p.Ser459Arg) | |
5 | g.139325568T>C | CA446793670 | MATR3 | c.2277T>C (p.Ser759=) c.2421T>C (p.Ser807=) n.1730T>C c.1263T>C (p.Ser421=) c.1413T>C (p.Ser471=) n.5997T>C n.455T>C c.585T>C (p.Ser195=) c.1416T>C (p.Ser472=) c.1407T>C (p.Ser469=) c.1377T>C (p.Ser459=) | |
5 | g.139325568T>G | CA361146450 | MATR3 | c.2277T>G (p.Ser759Arg) c.2421T>G (p.Ser807Arg) n.1730T>G c.1263T>G (p.Ser421Arg) c.1413T>G (p.Ser471Arg) n.5997T>G n.455T>G c.585T>G (p.Ser195Arg) c.1416T>G (p.Ser472Arg) c.1407T>G (p.Ser469Arg) c.1377T>G (p.Ser459Arg) | |
5 | g.139325569G>A | CA361146452 | MATR3 | c.2278G>A (p.Glu760Lys) c.2422G>A (p.Glu808Lys) n.1731G>A c.1264G>A (p.Glu422Lys) c.1414G>A (p.Glu472Lys) n.5998G>A n.456G>A c.586G>A (p.Glu196Lys) c.1417G>A (p.Glu473Lys) c.1408G>A (p.Glu470Lys) c.1378G>A (p.Glu460Lys) | |
5 | g.139325569G>C | CA361146453 | MATR3 | c.2278G>C (p.Glu760Gln) c.2422G>C (p.Glu808Gln) n.1731G>C c.1264G>C (p.Glu422Gln) c.1414G>C (p.Glu472Gln) n.5998G>C n.456G>C c.586G>C (p.Glu196Gln) c.1417G>C (p.Glu473Gln) c.1408G>C (p.Glu470Gln) c.1378G>C (p.Glu460Gln) | |
5 | g.139325569G>T | CA361146455 | MATR3 | c.2278G>T (p.Glu760Ter) c.2422G>T (p.Glu808Ter) n.1731G>T c.1264G>T (p.Glu422Ter) c.1414G>T (p.Glu472Ter) n.5998G>T n.456G>T c.586G>T (p.Glu196Ter) c.1417G>T (p.Glu473Ter) c.1408G>T (p.Glu470Ter) c.1378G>T (p.Glu460Ter) | |
5 | g.139325570A>C | CA361146457 | MATR3 | c.2279A>C (p.Glu760Ala) c.2423A>C (p.Glu808Ala) n.1732A>C c.1265A>C (p.Glu422Ala) c.1415A>C (p.Glu472Ala) n.5999A>C n.457A>C c.587A>C (p.Glu196Ala) c.1418A>C (p.Glu473Ala) c.1409A>C (p.Glu470Ala) c.1379A>C (p.Glu460Ala) | |
5 | g.139325570A>G | CA361146459 | MATR3 | c.2279A>G (p.Glu760Gly) c.2423A>G (p.Glu808Gly) n.1732A>G c.1265A>G (p.Glu422Gly) c.1415A>G (p.Glu472Gly) n.5999A>G n.457A>G c.587A>G (p.Glu196Gly) c.1418A>G (p.Glu473Gly) c.1409A>G (p.Glu470Gly) c.1379A>G (p.Glu460Gly) | ClinVar gnomAD v4 |
5 | g.139325570A>T | CA361146460 | MATR3 | c.2279A>T (p.Glu760Val) c.2423A>T (p.Glu808Val) n.1732A>T c.1265A>T (p.Glu422Val) c.1415A>T (p.Glu472Val) n.5999A>T n.457A>T c.587A>T (p.Glu196Val) c.1418A>T (p.Glu473Val) c.1409A>T (p.Glu470Val) c.1379A>T (p.Glu460Val) | |
5 | g.139325571A>C | CA361146462 | MATR3 | c.2280A>C (p.Glu760Asp) c.2424A>C (p.Glu808Asp) n.1733A>C c.1266A>C (p.Glu422Asp) c.1416A>C (p.Glu472Asp) n.6000A>C n.458A>C c.588A>C (p.Glu196Asp) c.1419A>C (p.Glu473Asp) c.1410A>C (p.Glu470Asp) c.1380A>C (p.Glu460Asp) | |
5 | g.139325571A>G | CA446793673 | MATR3 | c.2280A>G (p.Glu760=) c.2424A>G (p.Glu808=) n.1733A>G c.1266A>G (p.Glu422=) c.1416A>G (p.Glu472=) n.6000A>G n.458A>G c.588A>G (p.Glu196=) c.1419A>G (p.Glu473=) c.1410A>G (p.Glu470=) c.1380A>G (p.Glu460=) | |
5 | g.139325571A>T | CA361146464 | MATR3 | c.2280A>T (p.Glu760Asp) c.2424A>T (p.Glu808Asp) n.1733A>T c.1266A>T (p.Glu422Asp) c.1416A>T (p.Glu472Asp) n.6000A>T n.458A>T c.588A>T (p.Glu196Asp) c.1419A>T (p.Glu473Asp) c.1410A>T (p.Glu470Asp) c.1380A>T (p.Glu460Asp) | |
5 | g.139325572A>C | CA361146466 | MATR3 | c.2281A>C (p.Asn761His) c.2425A>C (p.Asn809His) n.1734A>C c.1267A>C (p.Asn423His) c.1417A>C (p.Asn473His) n.6001A>C n.459A>C c.589A>C (p.Asn197His) c.1420A>C (p.Asn474His) c.1411A>C (p.Asn471His) c.1381A>C (p.Asn461His) | |
5 | g.139325572A>G | CA361146467 | MATR3 | c.2281A>G (p.Asn761Asp) c.2425A>G (p.Asn809Asp) n.1734A>G c.1267A>G (p.Asn423Asp) c.1417A>G (p.Asn473Asp) n.6001A>G n.459A>G c.589A>G (p.Asn197Asp) c.1420A>G (p.Asn474Asp) c.1411A>G (p.Asn471Asp) c.1381A>G (p.Asn461Asp) | gnomAD v4 |
5 | g.139325572A>T | CA361146468 | MATR3 | c.2281A>T (p.Asn761Tyr) c.2425A>T (p.Asn809Tyr) n.1734A>T c.1267A>T (p.Asn423Tyr) c.1417A>T (p.Asn473Tyr) n.6001A>T n.459A>T c.589A>T (p.Asn197Tyr) c.1420A>T (p.Asn474Tyr) c.1411A>T (p.Asn471Tyr) c.1381A>T (p.Asn461Tyr) | |
5 | g.139325573A= | CA1586265175 | MATR3 | c.2282A= (p.Asn761=) c.2426A= (p.Asn809=) n.1735A= c.1268A= (p.Asn423=) c.1418A= (p.Asn473=) n.6002A= n.460A= c.590A= (p.Asn197=) c.1421A= (p.Asn474=) c.1412A= (p.Asn471=) c.1382A= (p.Asn461=) | |
5 | g.139325573A>C | CA361146472 | MATR3 | c.2282A>C (p.Asn761Thr) c.2426A>C (p.Asn809Thr) n.1735A>C c.1268A>C (p.Asn423Thr) c.1418A>C (p.Asn473Thr) n.6002A>C n.460A>C c.590A>C (p.Asn197Thr) c.1421A>C (p.Asn474Thr) c.1412A>C (p.Asn471Thr) c.1382A>C (p.Asn461Thr) | |
5 | g.139325573A>G | CA3433410 | MATR3 | c.2282A>G (p.Asn761Ser) c.2426A>G (p.Asn809Ser) n.1735A>G c.1268A>G (p.Asn423Ser) c.1418A>G (p.Asn473Ser) n.6002A>G n.460A>G c.590A>G (p.Asn197Ser) c.1421A>G (p.Asn474Ser) c.1412A>G (p.Asn471Ser) c.1382A>G (p.Asn461Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325573A>T | CA361146471 | MATR3 | c.2282A>T (p.Asn761Ile) c.2426A>T (p.Asn809Ile) n.1735A>T c.1268A>T (p.Asn423Ile) c.1418A>T (p.Asn473Ile) n.6002A>T n.460A>T c.590A>T (p.Asn197Ile) c.1421A>T (p.Asn474Ile) c.1412A>T (p.Asn471Ile) c.1382A>T (p.Asn461Ile) | |
5 | g.139325574C>A | CA361146474 | MATR3 | c.2283C>A (p.Asn761Lys) c.2427C>A (p.Asn809Lys) n.1736C>A c.1269C>A (p.Asn423Lys) c.1419C>A (p.Asn473Lys) n.6003C>A n.461C>A c.591C>A (p.Asn197Lys) c.1422C>A (p.Asn474Lys) c.1413C>A (p.Asn471Lys) c.1383C>A (p.Asn461Lys) | |
5 | g.139325574C= | CA1586265181 | MATR3 | c.2283C= (p.Asn761=) c.2427C= (p.Asn809=) n.1736C= c.1269C= (p.Asn423=) c.1419C= (p.Asn473=) n.6003C= n.461C= c.591C= (p.Asn197=) c.1422C= (p.Asn474=) c.1413C= (p.Asn471=) c.1383C= (p.Asn461=) | |
5 | g.139325574C>G | CA361146476 | MATR3 | c.2283C>G (p.Asn761Lys) c.2427C>G (p.Asn809Lys) n.1736C>G c.1269C>G (p.Asn423Lys) c.1419C>G (p.Asn473Lys) n.6003C>G n.461C>G c.591C>G (p.Asn197Lys) c.1422C>G (p.Asn474Lys) c.1413C>G (p.Asn471Lys) c.1383C>G (p.Asn461Lys) | |
5 | g.139325574C>T | CA3433411 | MATR3 | c.2283C>T (p.Asn761=) c.2427C>T (p.Asn809=) n.1736C>T c.1269C>T (p.Asn423=) c.1419C>T (p.Asn473=) n.6003C>T n.461C>T c.591C>T (p.Asn197=) c.1422C>T (p.Asn474=) c.1413C>T (p.Asn471=) c.1383C>T (p.Asn461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325575G>A | CA3433412 | MATR3 | c.2284G>A (p.Ala762Thr) c.2428G>A (p.Ala810Thr) n.1737G>A c.1270G>A (p.Ala424Thr) c.1420G>A (p.Ala474Thr) n.6004G>A n.462G>A c.592G>A (p.Ala198Thr) c.1423G>A (p.Ala475Thr) c.1414G>A (p.Ala472Thr) c.1384G>A (p.Ala462Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325575G>C | CA361146479 | MATR3 | c.2284G>C (p.Ala762Pro) c.2428G>C (p.Ala810Pro) n.1737G>C c.1270G>C (p.Ala424Pro) c.1420G>C (p.Ala474Pro) n.6004G>C n.462G>C c.592G>C (p.Ala198Pro) c.1423G>C (p.Ala475Pro) c.1414G>C (p.Ala472Pro) c.1384G>C (p.Ala462Pro) | |
5 | g.139325575G= | CA1586265188 | MATR3 | c.2284G= (p.Ala762=) c.2428G= (p.Ala810=) n.1737G= c.1270G= (p.Ala424=) c.1420G= (p.Ala474=) n.6004G= n.462G= c.592G= (p.Ala198=) c.1423G= (p.Ala475=) c.1414G= (p.Ala472=) c.1384G= (p.Ala462=) | |
5 | g.139325575G>T | CA361146481 | MATR3 | c.2284G>T (p.Ala762Ser) c.2428G>T (p.Ala810Ser) n.1737G>T c.1270G>T (p.Ala424Ser) c.1420G>T (p.Ala474Ser) n.6004G>T n.462G>T c.592G>T (p.Ala198Ser) c.1423G>T (p.Ala475Ser) c.1414G>T (p.Ala472Ser) c.1384G>T (p.Ala462Ser) | |
5 | g.139325576C>A | CA361146483 | MATR3 | c.2285C>A (p.Ala762Glu) c.2429C>A (p.Ala810Glu) n.1738C>A c.1271C>A (p.Ala424Glu) c.1421C>A (p.Ala474Glu) n.6005C>A n.463C>A c.593C>A (p.Ala198Glu) c.1424C>A (p.Ala475Glu) c.1415C>A (p.Ala472Glu) c.1385C>A (p.Ala462Glu) | |
5 | g.139325576C= | CA1586265192 | MATR3 | c.2285C= (p.Ala762=) c.2429C= (p.Ala810=) n.1738C= c.1271C= (p.Ala424=) c.1421C= (p.Ala474=) n.6005C= n.463C= c.593C= (p.Ala198=) c.1424C= (p.Ala475=) c.1415C= (p.Ala472=) c.1385C= (p.Ala462=) | |
5 | g.139325576C>G | CA361146485 | MATR3 | c.2285C>G (p.Ala762Gly) c.2429C>G (p.Ala810Gly) n.1738C>G c.1271C>G (p.Ala424Gly) c.1421C>G (p.Ala474Gly) n.6005C>G n.463C>G c.593C>G (p.Ala198Gly) c.1424C>G (p.Ala475Gly) c.1415C>G (p.Ala472Gly) c.1385C>G (p.Ala462Gly) | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.139325576C>T | CA361146487 | MATR3 | c.2285C>T (p.Ala762Val) c.2429C>T (p.Ala810Val) n.1738C>T c.1271C>T (p.Ala424Val) c.1421C>T (p.Ala474Val) n.6005C>T n.463C>T c.593C>T (p.Ala198Val) c.1424C>T (p.Ala475Val) c.1415C>T (p.Ala472Val) c.1385C>T (p.Ala462Val) | gnomAD v4 |
5 | g.139325577A>C | CA446793680 | MATR3 | c.2286A>C (p.Ala762=) c.2430A>C (p.Ala810=) n.1739A>C c.1272A>C (p.Ala424=) c.1422A>C (p.Ala474=) n.6006A>C n.464A>C c.594A>C (p.Ala198=) c.1425A>C (p.Ala475=) c.1416A>C (p.Ala472=) c.1386A>C (p.Ala462=) | |
5 | g.139325577A>G | CA446793681 | MATR3 | c.2286A>G (p.Ala762=) c.2430A>G (p.Ala810=) n.1739A>G c.1272A>G (p.Ala424=) c.1422A>G (p.Ala474=) n.6006A>G n.464A>G c.594A>G (p.Ala198=) c.1425A>G (p.Ala475=) c.1416A>G (p.Ala472=) c.1386A>G (p.Ala462=) | |
5 | g.139325577A>T | CA446793682 | MATR3 | c.2286A>T (p.Ala762=) c.2430A>T (p.Ala810=) n.1739A>T c.1272A>T (p.Ala424=) c.1422A>T (p.Ala474=) n.6006A>T n.464A>T c.594A>T (p.Ala198=) c.1425A>T (p.Ala475=) c.1416A>T (p.Ala472=) c.1386A>T (p.Ala462=) | |
5 | g.139325578G>A | CA361146488 | MATR3 | c.2287G>A (p.Asp763Asn) c.2431G>A (p.Asp811Asn) n.1740G>A c.1273G>A (p.Asp425Asn) c.1423G>A (p.Asp475Asn) n.6007G>A n.465G>A c.595G>A (p.Asp199Asn) c.1426G>A (p.Asp476Asn) c.1417G>A (p.Asp473Asn) c.1387G>A (p.Asp463Asn) | |
5 | g.139325578G>C | CA361146490 | MATR3 | c.2287G>C (p.Asp763His) c.2431G>C (p.Asp811His) n.1740G>C c.1273G>C (p.Asp425His) c.1423G>C (p.Asp475His) n.6007G>C n.465G>C c.595G>C (p.Asp199His) c.1426G>C (p.Asp476His) c.1417G>C (p.Asp473His) c.1387G>C (p.Asp463His) | gnomAD v4 |
5 | g.139325578G>T | CA361146492 | MATR3 | c.2287G>T (p.Asp763Tyr) c.2431G>T (p.Asp811Tyr) n.1740G>T c.1273G>T (p.Asp425Tyr) c.1423G>T (p.Asp475Tyr) n.6007G>T n.465G>T c.595G>T (p.Asp199Tyr) c.1426G>T (p.Asp476Tyr) c.1417G>T (p.Asp473Tyr) c.1387G>T (p.Asp463Tyr) | |
5 | g.139325579A= | CA1586265194 | MATR3 | c.2288A= (p.Asp763=) c.2432A= (p.Asp811=) n.1741A= c.1274A= (p.Asp425=) c.1424A= (p.Asp475=) n.6008A= n.466A= c.596A= (p.Asp199=) c.1427A= (p.Asp476=) c.1418A= (p.Asp473=) c.1388A= (p.Asp463=) | |
5 | g.139325579A>C | CA361146496 | MATR3 | c.2288A>C (p.Asp763Ala) c.2432A>C (p.Asp811Ala) n.1741A>C c.1274A>C (p.Asp425Ala) c.1424A>C (p.Asp475Ala) n.6008A>C n.466A>C c.596A>C (p.Asp199Ala) c.1427A>C (p.Asp476Ala) c.1418A>C (p.Asp473Ala) c.1388A>C (p.Asp463Ala) | |
5 | g.139325579A>G | CA361146494 | MATR3 | c.2288A>G (p.Asp763Gly) c.2432A>G (p.Asp811Gly) n.1741A>G c.1274A>G (p.Asp425Gly) c.1424A>G (p.Asp475Gly) n.6008A>G n.466A>G c.596A>G (p.Asp199Gly) c.1427A>G (p.Asp476Gly) c.1418A>G (p.Asp473Gly) c.1388A>G (p.Asp463Gly) | gnomAD v4 |
5 | g.139325579A>T | CA128241127 | MATR3 | c.2288A>T (p.Asp763Val) c.2432A>T (p.Asp811Val) n.1741A>T c.1274A>T (p.Asp425Val) c.1424A>T (p.Asp475Val) n.6008A>T n.466A>T c.596A>T (p.Asp199Val) c.1427A>T (p.Asp476Val) c.1418A>T (p.Asp473Val) c.1388A>T (p.Asp463Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325580T>A | CA361146498 | MATR3 | c.2289T>A (p.Asp763Glu) c.2433T>A (p.Asp811Glu) n.1742T>A c.1275T>A (p.Asp425Glu) c.1425T>A (p.Asp475Glu) n.6009T>A n.467T>A c.597T>A (p.Asp199Glu) c.1428T>A (p.Asp476Glu) c.1419T>A (p.Asp473Glu) c.1389T>A (p.Asp463Glu) | |
5 | g.139325580T>C | CA446793686 | MATR3 | c.2289T>C (p.Asp763=) c.2433T>C (p.Asp811=) n.1742T>C c.1275T>C (p.Asp425=) c.1425T>C (p.Asp475=) n.6009T>C n.467T>C c.597T>C (p.Asp199=) c.1428T>C (p.Asp476=) c.1419T>C (p.Asp473=) c.1389T>C (p.Asp463=) | |
5 | g.139325580T>G | CA361146500 | MATR3 | c.2289T>G (p.Asp763Glu) c.2433T>G (p.Asp811Glu) n.1742T>G c.1275T>G (p.Asp425Glu) c.1425T>G (p.Asp475Glu) n.6009T>G n.467T>G c.597T>G (p.Asp199Glu) c.1428T>G (p.Asp476Glu) c.1419T>G (p.Asp473Glu) c.1389T>G (p.Asp463Glu) | |
5 | g.139325581G>A | CA361146501 | MATR3 | c.2290G>A (p.Gly764Ser) c.2434G>A (p.Gly812Ser) n.1743G>A c.1276G>A (p.Gly426Ser) c.1426G>A (p.Gly476Ser) n.6010G>A n.468G>A c.598G>A (p.Gly200Ser) c.1429G>A (p.Gly477Ser) c.1420G>A (p.Gly474Ser) c.1390G>A (p.Gly464Ser) | |
5 | g.139325581G>C | CA361146504 | MATR3 | c.2290G>C (p.Gly764Arg) c.2434G>C (p.Gly812Arg) n.1743G>C c.1276G>C (p.Gly426Arg) c.1426G>C (p.Gly476Arg) n.6010G>C n.468G>C c.598G>C (p.Gly200Arg) c.1429G>C (p.Gly477Arg) c.1420G>C (p.Gly474Arg) c.1390G>C (p.Gly464Arg) | |
5 | g.139325581G>T | CA361146503 | MATR3 | c.2290G>T (p.Gly764Cys) c.2434G>T (p.Gly812Cys) n.1743G>T c.1276G>T (p.Gly426Cys) c.1426G>T (p.Gly476Cys) n.6010G>T n.468G>T c.598G>T (p.Gly200Cys) c.1429G>T (p.Gly477Cys) c.1420G>T (p.Gly474Cys) c.1390G>T (p.Gly464Cys) | |
5 | g.139325582G>A | CA361146507 | MATR3 | c.2291G>A (p.Gly764Asp) c.2435G>A (p.Gly812Asp) n.1744G>A c.1277G>A (p.Gly426Asp) c.1427G>A (p.Gly476Asp) n.6011G>A n.469G>A c.599G>A (p.Gly200Asp) c.1430G>A (p.Gly477Asp) c.1421G>A (p.Gly474Asp) c.1391G>A (p.Gly464Asp) | |
5 | g.139325582G>C | CA361146508 | MATR3 | c.2291G>C (p.Gly764Ala) c.2435G>C (p.Gly812Ala) n.1744G>C c.1277G>C (p.Gly426Ala) c.1427G>C (p.Gly476Ala) n.6011G>C n.469G>C c.599G>C (p.Gly200Ala) c.1430G>C (p.Gly477Ala) c.1421G>C (p.Gly474Ala) c.1391G>C (p.Gly464Ala) | |
5 | g.139325582G>T | CA361146509 | MATR3 | c.2291G>T (p.Gly764Val) c.2435G>T (p.Gly812Val) n.1744G>T c.1277G>T (p.Gly426Val) c.1427G>T (p.Gly476Val) n.6011G>T n.469G>T c.599G>T (p.Gly200Val) c.1430G>T (p.Gly477Val) c.1421G>T (p.Gly474Val) c.1391G>T (p.Gly464Val) | |
5 | g.139325583T>A | CA446793691 | MATR3 | c.2292T>A (p.Gly764=) c.2436T>A (p.Gly812=) n.1745T>A c.1278T>A (p.Gly426=) c.1428T>A (p.Gly476=) n.6012T>A n.470T>A c.600T>A (p.Gly200=) c.1431T>A (p.Gly477=) c.1422T>A (p.Gly474=) c.1392T>A (p.Gly464=) | |
5 | g.139325583T>C | CA446793688 | MATR3 | c.2292T>C (p.Gly764=) c.2436T>C (p.Gly812=) n.1745T>C c.1278T>C (p.Gly426=) c.1428T>C (p.Gly476=) n.6012T>C n.470T>C c.600T>C (p.Gly200=) c.1431T>C (p.Gly477=) c.1422T>C (p.Gly474=) c.1392T>C (p.Gly464=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139325583T>G | CA446793689 | MATR3 | c.2292T>G (p.Gly764=) c.2436T>G (p.Gly812=) n.1745T>G c.1278T>G (p.Gly426=) c.1428T>G (p.Gly476=) n.6012T>G n.470T>G c.600T>G (p.Gly200=) c.1431T>G (p.Gly477=) c.1422T>G (p.Gly474=) c.1392T>G (p.Gly464=) | |
5 | g.139325583T= | CA1586265197 | MATR3 | c.2292T= (p.Gly764=) c.2436T= (p.Gly812=) n.1745T= c.1278T= (p.Gly426=) c.1428T= (p.Gly476=) n.6012T= n.470T= c.600T= (p.Gly200=) c.1431T= (p.Gly477=) c.1422T= (p.Gly474=) c.1392T= (p.Gly464=) | |
5 | g.139325584C>A | CA361146511 | MATR3 | c.2293C>A (p.Gln765Lys) c.2437C>A (p.Gln813Lys) n.1746C>A c.1279C>A (p.Gln427Lys) c.1429C>A (p.Gln477Lys) n.6013C>A n.471C>A c.601C>A (p.Gln201Lys) c.1432C>A (p.Gln478Lys) c.1423C>A (p.Gln475Lys) c.1393C>A (p.Gln465Lys) | gnomAD v4 |
5 | g.139325584C>G | CA361146513 | MATR3 | c.2293C>G (p.Gln765Glu) c.2437C>G (p.Gln813Glu) n.1746C>G c.1279C>G (p.Gln427Glu) c.1429C>G (p.Gln477Glu) n.6013C>G n.471C>G c.601C>G (p.Gln201Glu) c.1432C>G (p.Gln478Glu) c.1423C>G (p.Gln475Glu) c.1393C>G (p.Gln465Glu) | |
5 | g.139325584C>T | CA361146515 | MATR3 | c.2293C>T (p.Gln765Ter) c.2437C>T (p.Gln813Ter) n.1746C>T c.1279C>T (p.Gln427Ter) c.1429C>T (p.Gln477Ter) n.6013C>T n.471C>T c.601C>T (p.Gln201Ter) c.1432C>T (p.Gln478Ter) c.1423C>T (p.Gln475Ter) c.1393C>T (p.Gln465Ter) | |
5 | g.139325585A= | CA1586265200 | MATR3 | c.2294A= (p.Gln765=) c.2438A= (p.Gln813=) n.1747A= c.1280A= (p.Gln427=) c.1430A= (p.Gln477=) n.6014A= n.472A= c.602A= (p.Gln201=) c.1433A= (p.Gln478=) c.1424A= (p.Gln475=) c.1394A= (p.Gln465=) | |
5 | g.139325585A>C | CA361146517 | MATR3 | c.2294A>C (p.Gln765Pro) c.2438A>C (p.Gln813Pro) n.1747A>C c.1280A>C (p.Gln427Pro) c.1430A>C (p.Gln477Pro) n.6014A>C n.472A>C c.602A>C (p.Gln201Pro) c.1433A>C (p.Gln478Pro) c.1424A>C (p.Gln475Pro) c.1394A>C (p.Gln465Pro) | |
5 | g.139325585A>G | CA128241143 | MATR3 | c.2294A>G (p.Gln765Arg) c.2438A>G (p.Gln813Arg) n.1747A>G c.1280A>G (p.Gln427Arg) c.1430A>G (p.Gln477Arg) n.6014A>G n.472A>G c.602A>G (p.Gln201Arg) c.1433A>G (p.Gln478Arg) c.1424A>G (p.Gln475Arg) c.1394A>G (p.Gln465Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325585A>T | CA361146519 | MATR3 | c.2294A>T (p.Gln765Leu) c.2438A>T (p.Gln813Leu) n.1747A>T c.1280A>T (p.Gln427Leu) c.1430A>T (p.Gln477Leu) n.6014A>T n.472A>T c.602A>T (p.Gln201Leu) c.1433A>T (p.Gln478Leu) c.1424A>T (p.Gln475Leu) c.1394A>T (p.Gln465Leu) | |
5 | g.139325586A= | CA1586265203 | MATR3 | c.2295A= (p.Gln765=) c.2439A= (p.Gln813=) n.1748A= c.1281A= (p.Gln427=) c.1431A= (p.Gln477=) n.6015A= n.473A= c.603A= (p.Gln201=) c.1434A= (p.Gln478=) c.1425A= (p.Gln475=) c.1395A= (p.Gln465=) | |
5 | g.139325586A>C | CA3433413 | MATR3 | c.2295A>C (p.Gln765His) c.2439A>C (p.Gln813His) n.1748A>C c.1281A>C (p.Gln427His) c.1431A>C (p.Gln477His) n.6015A>C n.473A>C c.603A>C (p.Gln201His) c.1434A>C (p.Gln478His) c.1425A>C (p.Gln475His) c.1395A>C (p.Gln465His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325586A>G | CA446793698 | MATR3 | c.2295A>G (p.Gln765=) c.2439A>G (p.Gln813=) n.1748A>G c.1281A>G (p.Gln427=) c.1431A>G (p.Gln477=) n.6015A>G n.473A>G c.603A>G (p.Gln201=) c.1434A>G (p.Gln478=) c.1425A>G (p.Gln475=) c.1395A>G (p.Gln465=) | |
5 | g.139325586A>T | CA361146520 | MATR3 | c.2295A>T (p.Gln765His) c.2439A>T (p.Gln813His) n.1748A>T c.1281A>T (p.Gln427His) c.1431A>T (p.Gln477His) n.6015A>T n.473A>T c.603A>T (p.Gln201His) c.1434A>T (p.Gln478His) c.1425A>T (p.Gln475His) c.1395A>T (p.Gln465His) | |
5 | g.139325587A>C | CA361146523 | MATR3 | c.2296A>C (p.Ser766Arg) c.2440A>C (p.Ser814Arg) n.1749A>C c.1282A>C (p.Ser428Arg) c.1432A>C (p.Ser478Arg) n.6016A>C n.474A>C c.604A>C (p.Ser202Arg) c.1435A>C (p.Ser479Arg) c.1426A>C (p.Ser476Arg) c.1396A>C (p.Ser466Arg) | |
5 | g.139325587A>G | CA361146521 | MATR3 | c.2296A>G (p.Ser766Gly) c.2440A>G (p.Ser814Gly) n.1749A>G c.1282A>G (p.Ser428Gly) c.1432A>G (p.Ser478Gly) n.6016A>G n.474A>G c.604A>G (p.Ser202Gly) c.1435A>G (p.Ser479Gly) c.1426A>G (p.Ser476Gly) c.1396A>G (p.Ser466Gly) | |
5 | g.139325587A>T | CA361146522 | MATR3 | c.2296A>T (p.Ser766Cys) c.2440A>T (p.Ser814Cys) n.1749A>T c.1282A>T (p.Ser428Cys) c.1432A>T (p.Ser478Cys) n.6016A>T n.474A>T c.604A>T (p.Ser202Cys) c.1435A>T (p.Ser479Cys) c.1426A>T (p.Ser476Cys) c.1396A>T (p.Ser466Cys) | |
5 | g.139325589_139325595del | CA2675515000 | MATR3 | c.2298_2304del (p.Ser766ArgfsTer25) c.2442_2448del (p.Ser814ArgfsTer25) n.1751_1757del c.1284_1290del (p.Ser428ArgfsTer25) c.1434_1440del (p.Ser478ArgfsTer25) n.6018_6024del c.2298_2304del (p.Ser766ArgfsTer?) n.476_482del c.606_612del (p.Ser202ArgfsTer25) c.1437_1443del (p.Ser479ArgfsTer25) c.1428_1434del (p.Ser476ArgfsTer25) c.1398_1404del (p.Ser466ArgfsTer25) | gnomAD v4 |
5 | g.139325588G>A | CA361146524 | MATR3 | c.2297G>A (p.Ser766Asn) c.2441G>A (p.Ser814Asn) n.1750G>A c.1283G>A (p.Ser428Asn) c.1433G>A (p.Ser478Asn) n.6017G>A n.475G>A c.605G>A (p.Ser202Asn) c.1436G>A (p.Ser479Asn) c.1427G>A (p.Ser476Asn) c.1397G>A (p.Ser466Asn) | |
5 | g.139325588G>C | CA361146525 | MATR3 | c.2297G>C (p.Ser766Thr) c.2441G>C (p.Ser814Thr) n.1750G>C c.1283G>C (p.Ser428Thr) c.1433G>C (p.Ser478Thr) n.6017G>C n.475G>C c.605G>C (p.Ser202Thr) c.1436G>C (p.Ser479Thr) c.1427G>C (p.Ser476Thr) c.1397G>C (p.Ser466Thr) | |
5 | g.139325588G= | CA1586265206 | MATR3 | c.2297G= (p.Ser766=) c.2441G= (p.Ser814=) n.1750G= c.1283G= (p.Ser428=) c.1433G= (p.Ser478=) n.6017G= n.475G= c.605G= (p.Ser202=) c.1436G= (p.Ser479=) c.1427G= (p.Ser476=) c.1397G= (p.Ser466=) | |
5 | g.139325588G>T | CA3433414 | MATR3 | c.2297G>T (p.Ser766Ile) c.2441G>T (p.Ser814Ile) n.1750G>T c.1283G>T (p.Ser428Ile) c.1433G>T (p.Ser478Ile) n.6017G>T n.475G>T c.605G>T (p.Ser202Ile) c.1436G>T (p.Ser479Ile) c.1427G>T (p.Ser476Ile) c.1397G>T (p.Ser466Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325589T>A | CA361146526 | MATR3 | c.2298T>A (p.Ser766Arg) c.2442T>A (p.Ser814Arg) n.1751T>A c.1284T>A (p.Ser428Arg) c.1434T>A (p.Ser478Arg) n.6018T>A n.476T>A c.606T>A (p.Ser202Arg) c.1437T>A (p.Ser479Arg) c.1428T>A (p.Ser476Arg) c.1398T>A (p.Ser466Arg) | |
5 | g.139325589T>C | CA446793700 | MATR3 | c.2298T>C (p.Ser766=) c.2442T>C (p.Ser814=) n.1751T>C c.1284T>C (p.Ser428=) c.1434T>C (p.Ser478=) n.6018T>C n.476T>C c.606T>C (p.Ser202=) c.1437T>C (p.Ser479=) c.1428T>C (p.Ser476=) c.1398T>C (p.Ser466=) | |
5 | g.139325589T>G | CA361146527 | MATR3 | c.2298T>G (p.Ser766Arg) c.2442T>G (p.Ser814Arg) n.1751T>G c.1284T>G (p.Ser428Arg) c.1434T>G (p.Ser478Arg) n.6018T>G n.476T>G c.606T>G (p.Ser202Arg) c.1437T>G (p.Ser479Arg) c.1428T>G (p.Ser476Arg) c.1398T>G (p.Ser466Arg) | |
5 | g.139325590G>A | CA361146528 | MATR3 | c.2299G>A (p.Asp767Asn) c.2443G>A (p.Asp815Asn) n.1752G>A c.1285G>A (p.Asp429Asn) c.1435G>A (p.Asp479Asn) n.6019G>A n.477G>A c.607G>A (p.Asp203Asn) c.1438G>A (p.Asp480Asn) c.1429G>A (p.Asp477Asn) c.1399G>A (p.Asp467Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139325590G>C | CA361146529 | MATR3 | c.2299G>C (p.Asp767His) c.2443G>C (p.Asp815His) n.1752G>C c.1285G>C (p.Asp429His) c.1435G>C (p.Asp479His) n.6019G>C n.477G>C c.607G>C (p.Asp203His) c.1438G>C (p.Asp480His) c.1429G>C (p.Asp477His) c.1399G>C (p.Asp467His) | |
5 | g.139325590G= | CA1586265212 | MATR3 | c.2299G= (p.Asp767=) c.2443G= (p.Asp815=) n.1752G= c.1285G= (p.Asp429=) c.1435G= (p.Asp479=) n.6019G= n.477G= c.607G= (p.Asp203=) c.1438G= (p.Asp480=) c.1429G= (p.Asp477=) c.1399G= (p.Asp467=) | |
5 | g.139325590G>T | CA361146530 | MATR3 | c.2299G>T (p.Asp767Tyr) c.2443G>T (p.Asp815Tyr) n.1752G>T c.1285G>T (p.Asp429Tyr) c.1435G>T (p.Asp479Tyr) n.6019G>T n.477G>T c.607G>T (p.Asp203Tyr) c.1438G>T (p.Asp480Tyr) c.1429G>T (p.Asp477Tyr) c.1399G>T (p.Asp467Tyr) | |
5 | g.139325591A>C | CA361146531 | MATR3 | c.2300A>C (p.Asp767Ala) c.2444A>C (p.Asp815Ala) n.1753A>C c.1286A>C (p.Asp429Ala) c.1436A>C (p.Asp479Ala) n.6020A>C n.478A>C c.608A>C (p.Asp203Ala) c.1439A>C (p.Asp480Ala) c.1430A>C (p.Asp477Ala) c.1400A>C (p.Asp467Ala) | |
5 | g.139325591A>G | CA361146532 | MATR3 | c.2300A>G (p.Asp767Gly) c.2444A>G (p.Asp815Gly) n.1753A>G c.1286A>G (p.Asp429Gly) c.1436A>G (p.Asp479Gly) n.6020A>G n.478A>G c.608A>G (p.Asp203Gly) c.1439A>G (p.Asp480Gly) c.1430A>G (p.Asp477Gly) c.1400A>G (p.Asp467Gly) | |
5 | g.139325591A>T | CA361146533 | MATR3 | c.2300A>T (p.Asp767Val) c.2444A>T (p.Asp815Val) n.1753A>T c.1286A>T (p.Asp429Val) c.1436A>T (p.Asp479Val) n.6020A>T n.478A>T c.608A>T (p.Asp203Val) c.1439A>T (p.Asp480Val) c.1430A>T (p.Asp477Val) c.1400A>T (p.Asp467Val) | ClinVar gnomAD v4 |
5 | g.139325592T>A | CA3433416 | MATR3 | c.2301T>A (p.Asp767Glu) c.2445T>A (p.Asp815Glu) n.1754T>A c.1287T>A (p.Asp429Glu) c.1437T>A (p.Asp479Glu) n.6021T>A n.479T>A c.609T>A (p.Asp203Glu) c.1440T>A (p.Asp480Glu) c.1431T>A (p.Asp477Glu) c.1401T>A (p.Asp467Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325592T>C | CA3433415 | MATR3 | c.2301T>C (p.Asp767=) c.2445T>C (p.Asp815=) n.1754T>C c.1287T>C (p.Asp429=) c.1437T>C (p.Asp479=) n.6021T>C n.479T>C c.609T>C (p.Asp203=) c.1440T>C (p.Asp480=) c.1431T>C (p.Asp477=) c.1401T>C (p.Asp467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325592T>G | CA361146534 | MATR3 | c.2301T>G (p.Asp767Glu) c.2445T>G (p.Asp815Glu) n.1754T>G c.1287T>G (p.Asp429Glu) c.1437T>G (p.Asp479Glu) n.6021T>G n.479T>G c.609T>G (p.Asp203Glu) c.1440T>G (p.Asp480Glu) c.1431T>G (p.Asp477Glu) c.1401T>G (p.Asp467Glu) | |
5 | g.139325592T= | CA1586265215 | MATR3 | c.2301T= (p.Asp767=) c.2445T= (p.Asp815=) n.1754T= c.1287T= (p.Asp429=) c.1437T= (p.Asp479=) n.6021T= n.479T= c.609T= (p.Asp203=) c.1440T= (p.Asp480=) c.1431T= (p.Asp477=) c.1401T= (p.Asp467=) | |
5 | g.139325593G>A | CA361146535 | MATR3 | c.2302G>A (p.Glu768Lys) c.2446G>A (p.Glu816Lys) n.1755G>A c.1288G>A (p.Glu430Lys) c.1438G>A (p.Glu480Lys) n.6022G>A n.480G>A c.610G>A (p.Glu204Lys) c.1441G>A (p.Glu481Lys) c.1432G>A (p.Glu478Lys) c.1402G>A (p.Glu468Lys) | |
5 | g.139325593G>C | CA361146536 | MATR3 | c.2302G>C (p.Glu768Gln) c.2446G>C (p.Glu816Gln) n.1755G>C c.1288G>C (p.Glu430Gln) c.1438G>C (p.Glu480Gln) n.6022G>C n.480G>C c.610G>C (p.Glu204Gln) c.1441G>C (p.Glu481Gln) c.1432G>C (p.Glu478Gln) c.1402G>C (p.Glu468Gln) | |
5 | g.139325593G>T | CA361146537 | MATR3 | c.2302G>T (p.Glu768Ter) c.2446G>T (p.Glu816Ter) n.1755G>T c.1288G>T (p.Glu430Ter) c.1438G>T (p.Glu480Ter) n.6022G>T n.480G>T c.610G>T (p.Glu204Ter) c.1441G>T (p.Glu481Ter) c.1432G>T (p.Glu478Ter) c.1402G>T (p.Glu468Ter) | |
5 | g.139325593_139325595del | CA2739275104 | MATR3 | c.2302_2304del (p.Glu768del) c.2446_2448del (p.Glu816del) n.1755_1757del c.1288_1290del (p.Glu430del) c.1438_1440del (p.Glu480del) n.6022_6024del n.480_482del c.610_612del (p.Glu204del) c.1441_1443del (p.Glu481del) c.1432_1434del (p.Glu478del) c.1402_1404del (p.Glu468del) | ClinVar |
5 | g.139325594A>C | CA361146538 | MATR3 | c.2303A>C (p.Glu768Ala) c.2447A>C (p.Glu816Ala) n.1756A>C c.1289A>C (p.Glu430Ala) c.1439A>C (p.Glu480Ala) n.6023A>C n.481A>C c.611A>C (p.Glu204Ala) c.1442A>C (p.Glu481Ala) c.1433A>C (p.Glu478Ala) c.1403A>C (p.Glu468Ala) | |
5 | g.139325594A>G | CA361146539 | MATR3 | c.2303A>G (p.Glu768Gly) c.2447A>G (p.Glu816Gly) n.1756A>G c.1289A>G (p.Glu430Gly) c.1439A>G (p.Glu480Gly) n.6023A>G n.481A>G c.611A>G (p.Glu204Gly) c.1442A>G (p.Glu481Gly) c.1433A>G (p.Glu478Gly) c.1403A>G (p.Glu468Gly) | |
5 | g.139325594A>T | CA361146540 | MATR3 | c.2303A>T (p.Glu768Val) c.2447A>T (p.Glu816Val) n.1756A>T c.1289A>T (p.Glu430Val) c.1439A>T (p.Glu480Val) n.6023A>T n.481A>T c.611A>T (p.Glu204Val) c.1442A>T (p.Glu481Val) c.1433A>T (p.Glu478Val) c.1403A>T (p.Glu468Val) | |
5 | g.139325595G>A | CA446793708 | MATR3 | c.2304G>A (p.Glu768=) c.2448G>A (p.Glu816=) n.1757G>A c.1290G>A (p.Glu430=) c.1440G>A (p.Glu480=) n.6024G>A n.482G>A c.612G>A (p.Glu204=) c.1443G>A (p.Glu481=) c.1434G>A (p.Glu478=) c.1404G>A (p.Glu468=) | |
5 | g.139325595G>C | CA361146541 | MATR3 | c.2304G>C (p.Glu768Asp) c.2448G>C (p.Glu816Asp) n.1757G>C c.1290G>C (p.Glu430Asp) c.1440G>C (p.Glu480Asp) n.6024G>C n.482G>C c.612G>C (p.Glu204Asp) c.1443G>C (p.Glu481Asp) c.1434G>C (p.Glu478Asp) c.1404G>C (p.Glu468Asp) | |
5 | g.139325595G>T | CA361146542 | MATR3 | c.2304G>T (p.Glu768Asp) c.2448G>T (p.Glu816Asp) n.1757G>T c.1290G>T (p.Glu430Asp) c.1440G>T (p.Glu480Asp) n.6024G>T n.482G>T c.612G>T (p.Glu204Asp) c.1443G>T (p.Glu481Asp) c.1434G>T (p.Glu478Asp) c.1404G>T (p.Glu468Asp) | |
5 | g.139325596A>C | CA361146543 | MATR3 | c.2305A>C (p.Asn769His) c.2449A>C (p.Asn817His) n.1758A>C c.1291A>C (p.Asn431His) c.1441A>C (p.Asn481His) n.6025A>C n.483A>C c.613A>C (p.Asn205His) c.1444A>C (p.Asn482His) c.1435A>C (p.Asn479His) c.1405A>C (p.Asn469His) | |
5 | g.139325596A>G | CA361146544 | MATR3 | c.2305A>G (p.Asn769Asp) c.2449A>G (p.Asn817Asp) n.1758A>G c.1291A>G (p.Asn431Asp) c.1441A>G (p.Asn481Asp) n.6025A>G n.483A>G c.613A>G (p.Asn205Asp) c.1444A>G (p.Asn482Asp) c.1435A>G (p.Asn479Asp) c.1405A>G (p.Asn469Asp) | |
5 | g.139325596A>T | CA361146545 | MATR3 | c.2305A>T (p.Asn769Tyr) c.2449A>T (p.Asn817Tyr) n.1758A>T c.1291A>T (p.Asn431Tyr) c.1441A>T (p.Asn481Tyr) n.6025A>T n.483A>T c.613A>T (p.Asn205Tyr) c.1444A>T (p.Asn482Tyr) c.1435A>T (p.Asn479Tyr) c.1405A>T (p.Asn469Tyr) | |
5 | g.139325597A= | CA1586265217 | MATR3 | c.2306A= (p.Asn769=) c.2450A= (p.Asn817=) n.1759A= c.1292A= (p.Asn431=) c.1442A= (p.Asn481=) n.6026A= n.484A= c.614A= (p.Asn205=) c.1445A= (p.Asn482=) c.1436A= (p.Asn479=) c.1406A= (p.Asn469=) | |
5 | g.139325597A>C | CA361146546 | MATR3 | c.2306A>C (p.Asn769Thr) c.2450A>C (p.Asn817Thr) n.1759A>C c.1292A>C (p.Asn431Thr) c.1442A>C (p.Asn481Thr) n.6026A>C n.484A>C c.614A>C (p.Asn205Thr) c.1445A>C (p.Asn482Thr) c.1436A>C (p.Asn479Thr) c.1406A>C (p.Asn469Thr) | |
5 | g.139325597A>G | CA361146547 | MATR3 | c.2306A>G (p.Asn769Ser) c.2450A>G (p.Asn817Ser) n.1759A>G c.1292A>G (p.Asn431Ser) c.1442A>G (p.Asn481Ser) n.6026A>G n.484A>G c.614A>G (p.Asn205Ser) c.1445A>G (p.Asn482Ser) c.1436A>G (p.Asn479Ser) c.1406A>G (p.Asn469Ser) | gnomAD v4 |
5 | g.139325597A>T | CA361146548 | MATR3 | c.2306A>T (p.Asn769Ile) c.2450A>T (p.Asn817Ile) n.1759A>T c.1292A>T (p.Asn431Ile) c.1442A>T (p.Asn481Ile) n.6026A>T n.484A>T c.614A>T (p.Asn205Ile) c.1445A>T (p.Asn482Ile) c.1436A>T (p.Asn479Ile) c.1406A>T (p.Asn469Ile) | dbSNP gnomAD v4 |
5 | g.139325598C>A | CA361146549 | MATR3 | c.2307C>A (p.Asn769Lys) c.2451C>A (p.Asn817Lys) n.1760C>A c.1293C>A (p.Asn431Lys) c.1443C>A (p.Asn481Lys) n.6027C>A n.485C>A c.615C>A (p.Asn205Lys) c.1446C>A (p.Asn482Lys) c.1437C>A (p.Asn479Lys) c.1407C>A (p.Asn469Lys) | dbSNP |
5 | g.139325598C= | CA1586265221 | MATR3 | c.2307C= (p.Asn769=) c.2451C= (p.Asn817=) n.1760C= c.1293C= (p.Asn431=) c.1443C= (p.Asn481=) n.6027C= n.485C= c.615C= (p.Asn205=) c.1446C= (p.Asn482=) c.1437C= (p.Asn479=) c.1407C= (p.Asn469=) | |
5 | g.139325598C>G | CA361146550 | MATR3 | c.2307C>G (p.Asn769Lys) c.2451C>G (p.Asn817Lys) n.1760C>G c.1293C>G (p.Asn431Lys) c.1443C>G (p.Asn481Lys) n.6027C>G n.485C>G c.615C>G (p.Asn205Lys) c.1446C>G (p.Asn482Lys) c.1437C>G (p.Asn479Lys) c.1407C>G (p.Asn469Lys) | |
5 | g.139325598C>T | CA446793713 | MATR3 | c.2307C>T (p.Asn769=) c.2451C>T (p.Asn817=) n.1760C>T c.1293C>T (p.Asn431=) c.1443C>T (p.Asn481=) n.6027C>T n.485C>T c.615C>T (p.Asn205=) c.1446C>T (p.Asn482=) c.1437C>T (p.Asn479=) c.1407C>T (p.Asn469=) | |
5 | g.139325599A= | CA1586265222 | MATR3 | c.2308A= (p.Lys770=) c.2452A= (p.Lys818=) n.1761A= c.1294A= (p.Lys432=) c.1444A= (p.Lys482=) n.6028A= n.486A= c.616A= (p.Lys206=) c.1447A= (p.Lys483=) c.1438A= (p.Lys480=) c.1408A= (p.Lys470=) | |
5 | g.139325599A>C | CA361146551 | MATR3 | c.2308A>C (p.Lys770Gln) c.2452A>C (p.Lys818Gln) n.1761A>C c.1294A>C (p.Lys432Gln) c.1444A>C (p.Lys482Gln) n.6028A>C n.486A>C c.616A>C (p.Lys206Gln) c.1447A>C (p.Lys483Gln) c.1438A>C (p.Lys480Gln) c.1408A>C (p.Lys470Gln) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139325599A>G | CA361146552 | MATR3 | c.2308A>G (p.Lys770Glu) c.2452A>G (p.Lys818Glu) n.1761A>G c.1294A>G (p.Lys432Glu) c.1444A>G (p.Lys482Glu) n.6028A>G n.486A>G c.616A>G (p.Lys206Glu) c.1447A>G (p.Lys483Glu) c.1438A>G (p.Lys480Glu) c.1408A>G (p.Lys470Glu) | |
5 | g.139325599A>T | CA361146553 | MATR3 | c.2308A>T (p.Lys770Ter) c.2452A>T (p.Lys818Ter) n.1761A>T c.1294A>T (p.Lys432Ter) c.1444A>T (p.Lys482Ter) n.6028A>T n.486A>T c.616A>T (p.Lys206Ter) c.1447A>T (p.Lys483Ter) c.1438A>T (p.Lys480Ter) c.1408A>T (p.Lys470Ter) | |
5 | g.139325600A>C | CA361146554 | MATR3 | c.2309A>C (p.Lys770Thr) c.2453A>C (p.Lys818Thr) n.1762A>C c.1295A>C (p.Lys432Thr) c.1445A>C (p.Lys482Thr) n.6029A>C n.487A>C c.617A>C (p.Lys206Thr) c.1448A>C (p.Lys483Thr) c.1439A>C (p.Lys480Thr) c.1409A>C (p.Lys470Thr) | |
5 | g.139325600A>G | CA361146555 | MATR3 | c.2309A>G (p.Lys770Arg) c.2453A>G (p.Lys818Arg) n.1762A>G c.1295A>G (p.Lys432Arg) c.1445A>G (p.Lys482Arg) n.6029A>G n.487A>G c.617A>G (p.Lys206Arg) c.1448A>G (p.Lys483Arg) c.1439A>G (p.Lys480Arg) c.1409A>G (p.Lys470Arg) | |
5 | g.139325600A>T | CA361146556 | MATR3 | c.2309A>T (p.Lys770Met) c.2453A>T (p.Lys818Met) n.1762A>T c.1295A>T (p.Lys432Met) c.1445A>T (p.Lys482Met) n.6029A>T n.487A>T c.617A>T (p.Lys206Met) c.1448A>T (p.Lys483Met) c.1439A>T (p.Lys480Met) c.1409A>T (p.Lys470Met) | |
5 | g.139325601G>A | CA446793719 | MATR3 | c.2310G>A (p.Lys770=) c.2454G>A (p.Lys818=) n.1763G>A c.1296G>A (p.Lys432=) c.1446G>A (p.Lys482=) n.6030G>A n.488G>A c.618G>A (p.Lys206=) c.1449G>A (p.Lys483=) c.1440G>A (p.Lys480=) c.1410G>A (p.Lys470=) | gnomAD v4 |
5 | g.139325601G>C | CA361146557 | MATR3 | c.2310G>C (p.Lys770Asn) c.2454G>C (p.Lys818Asn) n.1763G>C c.1296G>C (p.Lys432Asn) c.1446G>C (p.Lys482Asn) n.6030G>C n.488G>C c.618G>C (p.Lys206Asn) c.1449G>C (p.Lys483Asn) c.1440G>C (p.Lys480Asn) c.1410G>C (p.Lys470Asn) | ClinVar dbSNP gnomAD v4 |
5 | g.139325601G= | CA1586265225 | MATR3 | c.2310G= (p.Lys770=) c.2454G= (p.Lys818=) n.1763G= c.1296G= (p.Lys432=) c.1446G= (p.Lys482=) n.6030G= n.488G= c.618G= (p.Lys206=) c.1449G= (p.Lys483=) c.1440G= (p.Lys480=) c.1410G= (p.Lys470=) | |
5 | g.139325601G>T | CA361146558 | MATR3 | c.2310G>T (p.Lys770Asn) c.2454G>T (p.Lys818Asn) n.1763G>T c.1296G>T (p.Lys432Asn) c.1446G>T (p.Lys482Asn) n.6030G>T n.488G>T c.618G>T (p.Lys206Asn) c.1449G>T (p.Lys483Asn) c.1440G>T (p.Lys480Asn) c.1410G>T (p.Lys470Asn) | |
5 | g.139325602G>A | CA361146559 | MATR3 | c.2311G>A (p.Asp771Asn) c.2455G>A (p.Asp819Asn) n.1764G>A c.1297G>A (p.Asp433Asn) c.1447G>A (p.Asp483Asn) n.6031G>A n.489G>A c.619G>A (p.Asp207Asn) c.1450G>A (p.Asp484Asn) c.1441G>A (p.Asp481Asn) c.1411G>A (p.Asp471Asn) | |
5 | g.139325602G>C | CA361146560 | MATR3 | c.2311G>C (p.Asp771His) c.2455G>C (p.Asp819His) n.1764G>C c.1297G>C (p.Asp433His) c.1447G>C (p.Asp483His) n.6031G>C n.489G>C c.619G>C (p.Asp207His) c.1450G>C (p.Asp484His) c.1441G>C (p.Asp481His) c.1411G>C (p.Asp471His) | |
5 | g.139325602G>T | CA361146561 | MATR3 | c.2311G>T (p.Asp771Tyr) c.2455G>T (p.Asp819Tyr) n.1764G>T c.1297G>T (p.Asp433Tyr) c.1447G>T (p.Asp483Tyr) n.6031G>T n.489G>T c.619G>T (p.Asp207Tyr) c.1450G>T (p.Asp484Tyr) c.1441G>T (p.Asp481Tyr) c.1411G>T (p.Asp471Tyr) | |
5 | g.139325603A>C | CA361146562 | MATR3 | c.2312A>C (p.Asp771Ala) c.2456A>C (p.Asp819Ala) n.1765A>C c.1298A>C (p.Asp433Ala) c.1448A>C (p.Asp483Ala) n.6032A>C n.490A>C c.620A>C (p.Asp207Ala) c.1451A>C (p.Asp484Ala) c.1442A>C (p.Asp481Ala) c.1412A>C (p.Asp471Ala) | |
5 | g.139325603A>G | CA361146563 | MATR3 | c.2312A>G (p.Asp771Gly) c.2456A>G (p.Asp819Gly) n.1765A>G c.1298A>G (p.Asp433Gly) c.1448A>G (p.Asp483Gly) n.6032A>G n.490A>G c.620A>G (p.Asp207Gly) c.1451A>G (p.Asp484Gly) c.1442A>G (p.Asp481Gly) c.1412A>G (p.Asp471Gly) | |
5 | g.139325603A>T | CA361146564 | MATR3 | c.2312A>T (p.Asp771Val) c.2456A>T (p.Asp819Val) n.1765A>T c.1298A>T (p.Asp433Val) c.1448A>T (p.Asp483Val) n.6032A>T n.490A>T c.620A>T (p.Asp207Val) c.1451A>T (p.Asp484Val) c.1442A>T (p.Asp481Val) c.1412A>T (p.Asp471Val) | |
5 | g.139325604C>A | CA361146565 | MATR3 | c.2313C>A (p.Asp771Glu) c.2457C>A (p.Asp819Glu) n.1766C>A c.1299C>A (p.Asp433Glu) c.1449C>A (p.Asp483Glu) n.6033C>A n.491C>A c.621C>A (p.Asp207Glu) c.1452C>A (p.Asp484Glu) c.1443C>A (p.Asp481Glu) c.1413C>A (p.Asp471Glu) | |
5 | g.139325604C= | CA1586265228 | MATR3 | c.2313C= (p.Asp771=) c.2457C= (p.Asp819=) n.1766C= c.1299C= (p.Asp433=) c.1449C= (p.Asp483=) n.6033C= n.491C= c.621C= (p.Asp207=) c.1452C= (p.Asp484=) c.1443C= (p.Asp481=) c.1413C= (p.Asp471=) | |
5 | g.139325604C>G | CA361146566 | MATR3 | c.2313C>G (p.Asp771Glu) c.2457C>G (p.Asp819Glu) n.1766C>G c.1299C>G (p.Asp433Glu) c.1449C>G (p.Asp483Glu) n.6033C>G n.491C>G c.621C>G (p.Asp207Glu) c.1452C>G (p.Asp484Glu) c.1443C>G (p.Asp481Glu) c.1413C>G (p.Asp471Glu) | dbSNP |
5 | g.139325604C>T | CA446793724 | MATR3 | c.2313C>T (p.Asp771=) c.2457C>T (p.Asp819=) n.1766C>T c.1299C>T (p.Asp433=) c.1449C>T (p.Asp483=) n.6033C>T n.491C>T c.621C>T (p.Asp207=) c.1452C>T (p.Asp484=) c.1443C>T (p.Asp481=) c.1413C>T (p.Asp471=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325605G>A | CA3433417 | MATR3 | c.2314G>A (p.Asp772Asn) c.2458G>A (p.Asp820Asn) n.1767G>A c.1300G>A (p.Asp434Asn) c.1450G>A (p.Asp484Asn) n.6034G>A n.492G>A c.622G>A (p.Asp208Asn) c.1453G>A (p.Asp485Asn) c.1444G>A (p.Asp482Asn) c.1414G>A (p.Asp472Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325605G>C | CA361146568 | MATR3 | c.2314G>C (p.Asp772His) c.2458G>C (p.Asp820His) n.1767G>C c.1300G>C (p.Asp434His) c.1450G>C (p.Asp484His) n.6034G>C n.492G>C c.622G>C (p.Asp208His) c.1453G>C (p.Asp485His) c.1444G>C (p.Asp482His) c.1414G>C (p.Asp472His) | |
5 | g.139325605G= | CA1586265233 | MATR3 | c.2314G= (p.Asp772=) c.2458G= (p.Asp820=) n.1767G= c.1300G= (p.Asp434=) c.1450G= (p.Asp484=) n.6034G= n.492G= c.622G= (p.Asp208=) c.1453G= (p.Asp485=) c.1444G= (p.Asp482=) c.1414G= (p.Asp472=) | |
5 | g.139325605G>T | CA361146567 | MATR3 | c.2314G>T (p.Asp772Tyr) c.2458G>T (p.Asp820Tyr) n.1767G>T c.1300G>T (p.Asp434Tyr) c.1450G>T (p.Asp484Tyr) n.6034G>T n.492G>T c.622G>T (p.Asp208Tyr) c.1453G>T (p.Asp485Tyr) c.1444G>T (p.Asp482Tyr) c.1414G>T (p.Asp472Tyr) | |
5 | g.139325606A>C | CA361146569 | MATR3 | c.2315A>C (p.Asp772Ala) c.2459A>C (p.Asp820Ala) n.1768A>C c.1301A>C (p.Asp434Ala) c.1451A>C (p.Asp484Ala) n.6035A>C n.493A>C c.623A>C (p.Asp208Ala) c.1454A>C (p.Asp485Ala) c.1445A>C (p.Asp482Ala) c.1415A>C (p.Asp472Ala) | |
5 | g.139325606A>G | CA361146570 | MATR3 | c.2315A>G (p.Asp772Gly) c.2459A>G (p.Asp820Gly) n.1768A>G c.1301A>G (p.Asp434Gly) c.1451A>G (p.Asp484Gly) n.6035A>G n.493A>G c.623A>G (p.Asp208Gly) c.1454A>G (p.Asp485Gly) c.1445A>G (p.Asp482Gly) c.1415A>G (p.Asp472Gly) | gnomAD v4 |
5 | g.139325606A>T | CA361146571 | MATR3 | c.2315A>T (p.Asp772Val) c.2459A>T (p.Asp820Val) n.1768A>T c.1301A>T (p.Asp434Val) c.1451A>T (p.Asp484Val) n.6035A>T n.493A>T c.623A>T (p.Asp208Val) c.1454A>T (p.Asp485Val) c.1445A>T (p.Asp482Val) c.1415A>T (p.Asp472Val) | |
5 | g.139325607C>A | CA361146572 | MATR3 | c.2316C>A (p.Asp772Glu) c.2460C>A (p.Asp820Glu) n.1769C>A c.1302C>A (p.Asp434Glu) c.1452C>A (p.Asp484Glu) n.6036C>A n.494C>A c.624C>A (p.Asp208Glu) c.1455C>A (p.Asp485Glu) c.1446C>A (p.Asp482Glu) c.1416C>A (p.Asp472Glu) | |
5 | g.139325607C= | CA1586265238 | MATR3 | c.2316C= (p.Asp772=) c.2460C= (p.Asp820=) n.1769C= c.1302C= (p.Asp434=) c.1452C= (p.Asp484=) n.6036C= n.494C= c.624C= (p.Asp208=) c.1455C= (p.Asp485=) c.1446C= (p.Asp482=) c.1416C= (p.Asp472=) | |
5 | g.139325607C>G | CA3433418 | MATR3 | c.2316C>G (p.Asp772Glu) c.2460C>G (p.Asp820Glu) n.1769C>G c.1302C>G (p.Asp434Glu) c.1452C>G (p.Asp484Glu) n.6036C>G n.494C>G c.624C>G (p.Asp208Glu) c.1455C>G (p.Asp485Glu) c.1446C>G (p.Asp482Glu) c.1416C>G (p.Asp472Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325607C>T | CA446793731 | MATR3 | c.2316C>T (p.Asp772=) c.2460C>T (p.Asp820=) n.1769C>T c.1302C>T (p.Asp434=) c.1452C>T (p.Asp484=) n.6036C>T n.494C>T c.624C>T (p.Asp208=) c.1455C>T (p.Asp485=) c.1446C>T (p.Asp482=) c.1416C>T (p.Asp472=) | |
5 | g.139325608T>A | CA361146573 | MATR3 | c.2317T>A (p.Tyr773Asn) c.2461T>A (p.Tyr821Asn) n.1770T>A c.1303T>A (p.Tyr435Asn) c.1453T>A (p.Tyr485Asn) n.6037T>A n.495T>A c.625T>A (p.Tyr209Asn) c.1456T>A (p.Tyr486Asn) c.1447T>A (p.Tyr483Asn) c.1417T>A (p.Tyr473Asn) | ClinVar |
5 | g.139325608T>C | CA128241171 | MATR3 | c.2317T>C (p.Tyr773His) c.2461T>C (p.Tyr821His) n.1770T>C c.1303T>C (p.Tyr435His) c.1453T>C (p.Tyr485His) n.6037T>C n.495T>C c.625T>C (p.Tyr209His) c.1456T>C (p.Tyr486His) c.1447T>C (p.Tyr483His) c.1417T>C (p.Tyr473His) | dbSNP gnomAD v4 |
5 | g.139325608T>G | CA3433419 | MATR3 | c.2317T>G (p.Tyr773Asp) c.2461T>G (p.Tyr821Asp) n.1770T>G c.1303T>G (p.Tyr435Asp) c.1453T>G (p.Tyr485Asp) n.6037T>G n.495T>G c.625T>G (p.Tyr209Asp) c.1456T>G (p.Tyr486Asp) c.1447T>G (p.Tyr483Asp) c.1417T>G (p.Tyr473Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325608T= | CA1586265240 | MATR3 | c.2317T= (p.Tyr773=) c.2461T= (p.Tyr821=) n.1770T= c.1303T= (p.Tyr435=) c.1453T= (p.Tyr485=) n.6037T= n.495T= c.625T= (p.Tyr209=) c.1456T= (p.Tyr486=) c.1447T= (p.Tyr483=) c.1417T= (p.Tyr473=) | |
5 | g.139325609A= | CA1586265252 | MATR3 | c.2318A= (p.Tyr773=) c.2462A= (p.Tyr821=) n.1771A= c.1304A= (p.Tyr435=) c.1454A= (p.Tyr485=) n.6038A= n.496A= c.626A= (p.Tyr209=) c.1457A= (p.Tyr486=) c.1448A= (p.Tyr483=) c.1418A= (p.Tyr473=) | |
5 | g.139325609A>C | CA3433420 | MATR3 | c.2318A>C (p.Tyr773Ser) c.2462A>C (p.Tyr821Ser) n.1771A>C c.1304A>C (p.Tyr435Ser) c.1454A>C (p.Tyr485Ser) n.6038A>C n.496A>C c.626A>C (p.Tyr209Ser) c.1457A>C (p.Tyr486Ser) c.1448A>C (p.Tyr483Ser) c.1418A>C (p.Tyr473Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325609A>G | CA3433421 | MATR3 | c.2318A>G (p.Tyr773Cys) c.2462A>G (p.Tyr821Cys) n.1771A>G c.1304A>G (p.Tyr435Cys) c.1454A>G (p.Tyr485Cys) n.6038A>G n.496A>G c.626A>G (p.Tyr209Cys) c.1457A>G (p.Tyr486Cys) c.1448A>G (p.Tyr483Cys) c.1418A>G (p.Tyr473Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325609A>T | CA361146574 | MATR3 | c.2318A>T (p.Tyr773Phe) c.2462A>T (p.Tyr821Phe) n.1771A>T c.1304A>T (p.Tyr435Phe) c.1454A>T (p.Tyr485Phe) n.6038A>T n.496A>T c.626A>T (p.Tyr209Phe) c.1457A>T (p.Tyr486Phe) c.1448A>T (p.Tyr483Phe) c.1418A>T (p.Tyr473Phe) | |
5 | g.139325610T>A | CA361146575 | MATR3 | c.2319T>A (p.Tyr773Ter) c.2463T>A (p.Tyr821Ter) n.1772T>A c.1305T>A (p.Tyr435Ter) c.1455T>A (p.Tyr485Ter) n.6039T>A n.497T>A c.627T>A (p.Tyr209Ter) c.1458T>A (p.Tyr486Ter) c.1449T>A (p.Tyr483Ter) c.1419T>A (p.Tyr473Ter) | |
5 | g.139325610T>C | CA446793734 | MATR3 | c.2319T>C (p.Tyr773=) c.2463T>C (p.Tyr821=) n.1772T>C c.1305T>C (p.Tyr435=) c.1455T>C (p.Tyr485=) n.6039T>C n.497T>C c.627T>C (p.Tyr209=) c.1458T>C (p.Tyr486=) c.1449T>C (p.Tyr483=) c.1419T>C (p.Tyr473=) | |
5 | g.139325610T>G | CA361146576 | MATR3 | c.2319T>G (p.Tyr773Ter) c.2463T>G (p.Tyr821Ter) n.1772T>G c.1305T>G (p.Tyr435Ter) c.1455T>G (p.Tyr485Ter) n.6039T>G n.497T>G c.627T>G (p.Tyr209Ter) c.1458T>G (p.Tyr486Ter) c.1449T>G (p.Tyr483Ter) c.1419T>G (p.Tyr473Ter) | |
5 | g.139325611A= | CA1586265255 | MATR3 | c.2320A= (p.Thr774=) c.2464A= (p.Thr822=) n.1773A= c.1306A= (p.Thr436=) c.1456A= (p.Thr486=) n.6040A= n.498A= c.628A= (p.Thr210=) c.1459A= (p.Thr487=) c.1450A= (p.Thr484=) c.1420A= (p.Thr474=) | |
5 | g.139325611A>C | CA361146577 | MATR3 | c.2320A>C (p.Thr774Pro) c.2464A>C (p.Thr822Pro) n.1773A>C c.1306A>C (p.Thr436Pro) c.1456A>C (p.Thr486Pro) n.6040A>C n.498A>C c.628A>C (p.Thr210Pro) c.1459A>C (p.Thr487Pro) c.1450A>C (p.Thr484Pro) c.1420A>C (p.Thr474Pro) | |
5 | g.139325611A>G | CA361146579 | MATR3 | c.2320A>G (p.Thr774Ala) c.2464A>G (p.Thr822Ala) n.1773A>G c.1306A>G (p.Thr436Ala) c.1456A>G (p.Thr486Ala) n.6040A>G n.498A>G c.628A>G (p.Thr210Ala) c.1459A>G (p.Thr487Ala) c.1450A>G (p.Thr484Ala) c.1420A>G (p.Thr474Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139325611A>T | CA361146578 | MATR3 | c.2320A>T (p.Thr774Ser) c.2464A>T (p.Thr822Ser) n.1773A>T c.1306A>T (p.Thr436Ser) c.1456A>T (p.Thr486Ser) n.6040A>T n.498A>T c.628A>T (p.Thr210Ser) c.1459A>T (p.Thr487Ser) c.1450A>T (p.Thr484Ser) c.1420A>T (p.Thr474Ser) | |
5 | g.139325612C>A | CA361146580 | MATR3 | c.2321C>A (p.Thr774Lys) c.2465C>A (p.Thr822Lys) n.1774C>A c.1307C>A (p.Thr436Lys) c.1457C>A (p.Thr486Lys) n.6041C>A n.499C>A c.629C>A (p.Thr210Lys) c.1460C>A (p.Thr487Lys) c.1451C>A (p.Thr484Lys) c.1421C>A (p.Thr474Lys) | |
5 | g.139325612C= | CA1586265258 | MATR3 | c.2321C= (p.Thr774=) c.2465C= (p.Thr822=) n.1774C= c.1307C= (p.Thr436=) c.1457C= (p.Thr486=) n.6041C= n.499C= c.629C= (p.Thr210=) c.1460C= (p.Thr487=) c.1451C= (p.Thr484=) c.1421C= (p.Thr474=) | |
5 | g.139325612C>G | CA361146581 | MATR3 | c.2321C>G (p.Thr774Arg) c.2465C>G (p.Thr822Arg) n.1774C>G c.1307C>G (p.Thr436Arg) c.1457C>G (p.Thr486Arg) n.6041C>G n.499C>G c.629C>G (p.Thr210Arg) c.1460C>G (p.Thr487Arg) c.1451C>G (p.Thr484Arg) c.1421C>G (p.Thr474Arg) | gnomAD v4 |
5 | g.139325612C>T | CA361146582 | MATR3 | c.2321C>T (p.Thr774Ile) c.2465C>T (p.Thr822Ile) n.1774C>T c.1307C>T (p.Thr436Ile) c.1457C>T (p.Thr486Ile) n.6041C>T n.499C>T c.629C>T (p.Thr210Ile) c.1460C>T (p.Thr487Ile) c.1451C>T (p.Thr484Ile) c.1421C>T (p.Thr474Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.139325613A>C | CA446793739 | MATR3 | c.2322A>C (p.Thr774=) c.2466A>C (p.Thr822=) n.1775A>C c.1308A>C (p.Thr436=) c.1458A>C (p.Thr486=) n.6042A>C n.500A>C c.630A>C (p.Thr210=) c.1461A>C (p.Thr487=) c.1452A>C (p.Thr484=) c.1422A>C (p.Thr474=) | |
5 | g.139325613A>G | CA446793740 | MATR3 | c.2322A>G (p.Thr774=) c.2466A>G (p.Thr822=) n.1775A>G c.1308A>G (p.Thr436=) c.1458A>G (p.Thr486=) n.6042A>G n.500A>G c.630A>G (p.Thr210=) c.1461A>G (p.Thr487=) c.1452A>G (p.Thr484=) c.1422A>G (p.Thr474=) | |
5 | g.139325613A>T | CA446793741 | MATR3 | c.2322A>T (p.Thr774=) c.2466A>T (p.Thr822=) n.1775A>T c.1308A>T (p.Thr436=) c.1458A>T (p.Thr486=) n.6042A>T n.500A>T c.630A>T (p.Thr210=) c.1461A>T (p.Thr487=) c.1452A>T (p.Thr484=) c.1422A>T (p.Thr474=) | |
5 | g.139325614A= | CA1586265262 | MATR3 | c.2323A= (p.Ile775=) c.2467A= (p.Ile823=) n.1776A= c.1309A= (p.Ile437=) c.1459A= (p.Ile487=) n.6043A= n.501A= c.631A= (p.Ile211=) c.1462A= (p.Ile488=) c.1453A= (p.Ile485=) c.1423A= (p.Ile475=) | |
5 | g.139325614A>C | CA361146583 | MATR3 | c.2323A>C (p.Ile775Leu) c.2467A>C (p.Ile823Leu) n.1776A>C c.1309A>C (p.Ile437Leu) c.1459A>C (p.Ile487Leu) n.6043A>C n.501A>C c.631A>C (p.Ile211Leu) c.1462A>C (p.Ile488Leu) c.1453A>C (p.Ile485Leu) c.1423A>C (p.Ile475Leu) | |
5 | g.139325614A>G | CA3433422 | MATR3 | c.2323A>G (p.Ile775Val) c.2467A>G (p.Ile823Val) n.1776A>G c.1309A>G (p.Ile437Val) c.1459A>G (p.Ile487Val) n.6043A>G n.501A>G c.631A>G (p.Ile211Val) c.1462A>G (p.Ile488Val) c.1453A>G (p.Ile485Val) c.1423A>G (p.Ile475Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325614A>T | CA361146584 | MATR3 | c.2323A>T (p.Ile775Phe) c.2467A>T (p.Ile823Phe) n.1776A>T c.1309A>T (p.Ile437Phe) c.1459A>T (p.Ile487Phe) n.6043A>T n.501A>T c.631A>T (p.Ile211Phe) c.1462A>T (p.Ile488Phe) c.1453A>T (p.Ile485Phe) c.1423A>T (p.Ile475Phe) | |
5 | g.139325615T>A | CA361146585 | MATR3 | c.2324T>A (p.Ile775Asn) c.2468T>A (p.Ile823Asn) n.1777T>A c.1310T>A (p.Ile437Asn) c.1460T>A (p.Ile487Asn) n.6044T>A n.502T>A c.632T>A (p.Ile211Asn) c.1463T>A (p.Ile488Asn) c.1454T>A (p.Ile485Asn) c.1424T>A (p.Ile475Asn) | |
5 | g.139325615T>C | CA361146586 | MATR3 | c.2324T>C (p.Ile775Thr) c.2468T>C (p.Ile823Thr) n.1777T>C c.1310T>C (p.Ile437Thr) c.1460T>C (p.Ile487Thr) n.6044T>C n.502T>C c.632T>C (p.Ile211Thr) c.1463T>C (p.Ile488Thr) c.1454T>C (p.Ile485Thr) c.1424T>C (p.Ile475Thr) | |
5 | g.139325615T>G | CA361146587 | MATR3 | c.2324T>G (p.Ile775Ser) c.2468T>G (p.Ile823Ser) n.1777T>G c.1310T>G (p.Ile437Ser) c.1460T>G (p.Ile487Ser) n.6044T>G n.502T>G c.632T>G (p.Ile211Ser) c.1463T>G (p.Ile488Ser) c.1454T>G (p.Ile485Ser) c.1424T>G (p.Ile475Ser) | |
5 | g.139325616C>A | CA446793346 | MATR3 | c.2325C>A (p.Ile775=) c.2469C>A (p.Ile823=) n.1778C>A c.1311C>A (p.Ile437=) c.1461C>A (p.Ile487=) n.6045C>A n.503C>A c.633C>A (p.Ile211=) c.1464C>A (p.Ile488=) c.1455C>A (p.Ile485=) c.1425C>A (p.Ile475=) | |
5 | g.139325616C>G | CA361146588 | MATR3 | c.2325C>G (p.Ile775Met) c.2469C>G (p.Ile823Met) n.1778C>G c.1311C>G (p.Ile437Met) c.1461C>G (p.Ile487Met) n.6045C>G n.503C>G c.633C>G (p.Ile211Met) c.1464C>G (p.Ile488Met) c.1455C>G (p.Ile485Met) c.1425C>G (p.Ile475Met) | |
5 | g.139325616C>T | CA446793347 | MATR3 | c.2325C>T (p.Ile775=) c.2469C>T (p.Ile823=) n.1778C>T c.1311C>T (p.Ile437=) c.1461C>T (p.Ile487=) n.6045C>T n.503C>T c.633C>T (p.Ile211=) c.1464C>T (p.Ile488=) c.1455C>T (p.Ile485=) c.1425C>T (p.Ile475=) | |
5 | g.139325617C>A | CA361146589 | MATR3 | c.2326C>A (p.Pro776Thr) c.2470C>A (p.Pro824Thr) n.1779C>A c.1312C>A (p.Pro438Thr) c.1462C>A (p.Pro488Thr) n.6046C>A n.504C>A c.634C>A (p.Pro212Thr) c.1465C>A (p.Pro489Thr) c.1456C>A (p.Pro486Thr) c.1426C>A (p.Pro476Thr) | |
5 | g.139325617C= | CA1586265264 | MATR3 | c.2326C= (p.Pro776=) c.2470C= (p.Pro824=) n.1779C= c.1312C= (p.Pro438=) c.1462C= (p.Pro488=) n.6046C= n.504C= c.634C= (p.Pro212=) c.1465C= (p.Pro489=) c.1456C= (p.Pro486=) c.1426C= (p.Pro476=) | |
5 | g.139325617C>G | CA361146590 | MATR3 | c.2326C>G (p.Pro776Ala) c.2470C>G (p.Pro824Ala) n.1779C>G c.1312C>G (p.Pro438Ala) c.1462C>G (p.Pro488Ala) n.6046C>G n.504C>G c.634C>G (p.Pro212Ala) c.1465C>G (p.Pro489Ala) c.1456C>G (p.Pro486Ala) c.1426C>G (p.Pro476Ala) | gnomAD v4 |
5 | g.139325617C>T | CA3433423 | MATR3 | c.2326C>T (p.Pro776Ser) c.2470C>T (p.Pro824Ser) n.1779C>T c.1312C>T (p.Pro438Ser) c.1462C>T (p.Pro488Ser) n.6046C>T n.504C>T c.634C>T (p.Pro212Ser) c.1465C>T (p.Pro489Ser) c.1456C>T (p.Pro486Ser) c.1426C>T (p.Pro476Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325618C>A | CA361146591 | MATR3 | c.2327C>A (p.Pro776Gln) c.2471C>A (p.Pro824Gln) n.1780C>A c.1313C>A (p.Pro438Gln) c.1463C>A (p.Pro488Gln) n.6047C>A n.505C>A c.635C>A (p.Pro212Gln) c.1466C>A (p.Pro489Gln) c.1457C>A (p.Pro486Gln) c.1427C>A (p.Pro476Gln) | |
5 | g.139325618C>G | CA361146592 | MATR3 | c.2327C>G (p.Pro776Arg) c.2471C>G (p.Pro824Arg) n.1780C>G c.1313C>G (p.Pro438Arg) c.1463C>G (p.Pro488Arg) n.6047C>G n.505C>G c.635C>G (p.Pro212Arg) c.1466C>G (p.Pro489Arg) c.1457C>G (p.Pro486Arg) c.1427C>G (p.Pro476Arg) | |
5 | g.139325618C>T | CA361146593 | MATR3 | c.2327C>T (p.Pro776Leu) c.2471C>T (p.Pro824Leu) n.1780C>T c.1313C>T (p.Pro438Leu) c.1463C>T (p.Pro488Leu) n.6047C>T n.505C>T c.635C>T (p.Pro212Leu) c.1466C>T (p.Pro489Leu) c.1457C>T (p.Pro486Leu) c.1427C>T (p.Pro476Leu) | ClinVar COSMIC COSMIC |
5 | g.139325619A>C | CA446793348 | MATR3 | c.2328A>C (p.Pro776=) c.2472A>C (p.Pro824=) n.1781A>C c.1314A>C (p.Pro438=) c.1464A>C (p.Pro488=) n.6048A>C n.506A>C c.636A>C (p.Pro212=) c.1467A>C (p.Pro489=) c.1458A>C (p.Pro486=) c.1428A>C (p.Pro476=) | |
5 | g.139325619A>G | CA446793349 | MATR3 | c.2328A>G (p.Pro776=) c.2472A>G (p.Pro824=) n.1781A>G c.1314A>G (p.Pro438=) c.1464A>G (p.Pro488=) n.6048A>G n.506A>G c.636A>G (p.Pro212=) c.1467A>G (p.Pro489=) c.1458A>G (p.Pro486=) c.1428A>G (p.Pro476=) | gnomAD v4 |
5 | g.139325619A>T | CA446793350 | MATR3 | c.2328A>T (p.Pro776=) c.2472A>T (p.Pro824=) n.1781A>T c.1314A>T (p.Pro438=) c.1464A>T (p.Pro488=) n.6048A>T n.506A>T c.636A>T (p.Pro212=) c.1467A>T (p.Pro489=) c.1458A>T (p.Pro486=) c.1428A>T (p.Pro476=) | |
5 | g.139325620G>A | CA361146594 | MATR3 | c.2329G>A (p.Asp777Asn) c.2473G>A (p.Asp825Asn) n.1782G>A c.1315G>A (p.Asp439Asn) c.1465G>A (p.Asp489Asn) n.6049G>A n.507G>A c.637G>A (p.Asp213Asn) c.1468G>A (p.Asp490Asn) c.1459G>A (p.Asp487Asn) c.1429G>A (p.Asp477Asn) | |
5 | g.139325620G>C | CA361146595 | MATR3 | c.2329G>C (p.Asp777His) c.2473G>C (p.Asp825His) n.1782G>C c.1315G>C (p.Asp439His) c.1465G>C (p.Asp489His) n.6049G>C n.507G>C c.637G>C (p.Asp213His) c.1468G>C (p.Asp490His) c.1459G>C (p.Asp487His) c.1429G>C (p.Asp477His) | |
5 | g.139325620G>T | CA361146596 | MATR3 | c.2329G>T (p.Asp777Tyr) c.2473G>T (p.Asp825Tyr) n.1782G>T c.1315G>T (p.Asp439Tyr) c.1465G>T (p.Asp489Tyr) n.6049G>T n.507G>T c.637G>T (p.Asp213Tyr) c.1468G>T (p.Asp490Tyr) c.1459G>T (p.Asp487Tyr) c.1429G>T (p.Asp477Tyr) | |
5 | g.139325621A>C | CA361146599 | MATR3 | c.2330A>C (p.Asp777Ala) c.2474A>C (p.Asp825Ala) n.1783A>C c.1316A>C (p.Asp439Ala) c.1466A>C (p.Asp489Ala) n.6050A>C n.508A>C c.638A>C (p.Asp213Ala) c.1469A>C (p.Asp490Ala) c.1460A>C (p.Asp487Ala) c.1430A>C (p.Asp477Ala) | |
5 | g.139325621A>G | CA361146597 | MATR3 | c.2330A>G (p.Asp777Gly) c.2474A>G (p.Asp825Gly) n.1783A>G c.1316A>G (p.Asp439Gly) c.1466A>G (p.Asp489Gly) n.6050A>G n.508A>G c.638A>G (p.Asp213Gly) c.1469A>G (p.Asp490Gly) c.1460A>G (p.Asp487Gly) c.1430A>G (p.Asp477Gly) | COSMIC COSMIC |
5 | g.139325621A>T | CA361146598 | MATR3 | c.2330A>T (p.Asp777Val) c.2474A>T (p.Asp825Val) n.1783A>T c.1316A>T (p.Asp439Val) c.1466A>T (p.Asp489Val) n.6050A>T n.508A>T c.638A>T (p.Asp213Val) c.1469A>T (p.Asp490Val) c.1460A>T (p.Asp487Val) c.1430A>T (p.Asp477Val) | |
5 | g.139325622T>A | CA361146600 | MATR3 | c.2331T>A (p.Asp777Glu) c.2475T>A (p.Asp825Glu) n.1784T>A c.1317T>A (p.Asp439Glu) c.1467T>A (p.Asp489Glu) n.6051T>A n.509T>A c.639T>A (p.Asp213Glu) c.1470T>A (p.Asp490Glu) c.1461T>A (p.Asp487Glu) c.1431T>A (p.Asp477Glu) | |
5 | g.139325622T>C | CA446793352 | MATR3 | c.2331T>C (p.Asp777=) c.2475T>C (p.Asp825=) n.1784T>C c.1317T>C (p.Asp439=) c.1467T>C (p.Asp489=) n.6051T>C n.509T>C c.639T>C (p.Asp213=) c.1470T>C (p.Asp490=) c.1461T>C (p.Asp487=) c.1431T>C (p.Asp477=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.139325622T>G | CA361146601 | MATR3 | c.2331T>G (p.Asp777Glu) c.2475T>G (p.Asp825Glu) n.1784T>G c.1317T>G (p.Asp439Glu) c.1467T>G (p.Asp489Glu) n.6051T>G n.509T>G c.639T>G (p.Asp213Glu) c.1470T>G (p.Asp490Glu) c.1461T>G (p.Asp487Glu) c.1431T>G (p.Asp477Glu) | gnomAD v4 |
5 | g.139325622T= | CA1586265267 | MATR3 | c.2331T= (p.Asp777=) c.2475T= (p.Asp825=) n.1784T= c.1317T= (p.Asp439=) c.1467T= (p.Asp489=) n.6051T= n.509T= c.639T= (p.Asp213=) c.1470T= (p.Asp490=) c.1461T= (p.Asp487=) c.1431T= (p.Asp477=) | |
5 | g.139325623G>A | CA361146602 | MATR3 | c.2332G>A (p.Glu778Lys) c.2476G>A (p.Glu826Lys) n.1785G>A c.1318G>A (p.Glu440Lys) c.1468G>A (p.Glu490Lys) n.6052G>A n.510G>A c.640G>A (p.Glu214Lys) c.1471G>A (p.Glu491Lys) c.1462G>A (p.Glu488Lys) c.1432G>A (p.Glu478Lys) | |
5 | g.139325623G>C | CA361146603 | MATR3 | c.2332G>C (p.Glu778Gln) c.2476G>C (p.Glu826Gln) n.1785G>C c.1318G>C (p.Glu440Gln) c.1468G>C (p.Glu490Gln) n.6052G>C n.510G>C c.640G>C (p.Glu214Gln) c.1471G>C (p.Glu491Gln) c.1462G>C (p.Glu488Gln) c.1432G>C (p.Glu478Gln) | |
5 | g.139325623G>T | CA361146604 | MATR3 | c.2332G>T (p.Glu778Ter) c.2476G>T (p.Glu826Ter) n.1785G>T c.1318G>T (p.Glu440Ter) c.1468G>T (p.Glu490Ter) n.6052G>T n.510G>T c.640G>T (p.Glu214Ter) c.1471G>T (p.Glu491Ter) c.1462G>T (p.Glu488Ter) c.1432G>T (p.Glu478Ter) | |
5 | g.139325624A= | CA1586265273 | MATR3 | c.2333A= (p.Glu778=) c.2477A= (p.Glu826=) n.1786A= c.1319A= (p.Glu440=) c.1469A= (p.Glu490=) n.6053A= n.511A= c.641A= (p.Glu214=) c.1472A= (p.Glu491=) c.1463A= (p.Glu488=) c.1433A= (p.Glu478=) | |
5 | g.139325624A>C | CA361146605 | MATR3 | c.2333A>C (p.Glu778Ala) c.2477A>C (p.Glu826Ala) n.1786A>C c.1319A>C (p.Glu440Ala) c.1469A>C (p.Glu490Ala) n.6053A>C n.511A>C c.641A>C (p.Glu214Ala) c.1472A>C (p.Glu491Ala) c.1463A>C (p.Glu488Ala) c.1433A>C (p.Glu478Ala) | |
5 | g.139325624A>G | CA361146607 | MATR3 | c.2333A>G (p.Glu778Gly) c.2477A>G (p.Glu826Gly) n.1786A>G c.1319A>G (p.Glu440Gly) c.1469A>G (p.Glu490Gly) n.6053A>G n.511A>G c.641A>G (p.Glu214Gly) c.1472A>G (p.Glu491Gly) c.1463A>G (p.Glu488Gly) c.1433A>G (p.Glu478Gly) | dbSNP |
5 | g.139325624A>T | CA361146606 | MATR3 | c.2333A>T (p.Glu778Val) c.2477A>T (p.Glu826Val) n.1786A>T c.1319A>T (p.Glu440Val) c.1469A>T (p.Glu490Val) n.6053A>T n.511A>T c.641A>T (p.Glu214Val) c.1472A>T (p.Glu491Val) c.1463A>T (p.Glu488Val) c.1433A>T (p.Glu478Val) | |
5 | g.139325625G>A | CA446793353 | MATR3 | c.2334G>A (p.Glu778=) c.2478G>A (p.Glu826=) n.1787G>A c.1320G>A (p.Glu440=) c.1470G>A (p.Glu490=) n.6054G>A n.512G>A c.642G>A (p.Glu214=) c.1473G>A (p.Glu491=) c.1464G>A (p.Glu488=) c.1434G>A (p.Glu478=) | dbSNP |
5 | g.139325625G>C | CA361146608 | MATR3 | c.2334G>C (p.Glu778Asp) c.2478G>C (p.Glu826Asp) n.1787G>C c.1320G>C (p.Glu440Asp) c.1470G>C (p.Glu490Asp) n.6054G>C n.512G>C c.642G>C (p.Glu214Asp) c.1473G>C (p.Glu491Asp) c.1464G>C (p.Glu488Asp) c.1434G>C (p.Glu478Asp) | |
5 | g.139325625G= | CA1586265276 | MATR3 | c.2334G= (p.Glu778=) c.2478G= (p.Glu826=) n.1787G= c.1320G= (p.Glu440=) c.1470G= (p.Glu490=) n.6054G= n.512G= c.642G= (p.Glu214=) c.1473G= (p.Glu491=) c.1464G= (p.Glu488=) c.1434G= (p.Glu478=) | |
5 | g.139325625G>T | CA361146609 | MATR3 | c.2334G>T (p.Glu778Asp) c.2478G>T (p.Glu826Asp) n.1787G>T c.1320G>T (p.Glu440Asp) c.1470G>T (p.Glu490Asp) n.6054G>T n.512G>T c.642G>T (p.Glu214Asp) c.1473G>T (p.Glu491Asp) c.1464G>T (p.Glu488Asp) c.1434G>T (p.Glu478Asp) | |
5 | g.139325626T>A | CA361146610 | MATR3 | c.2335T>A (p.Tyr779Asn) c.2479T>A (p.Tyr827Asn) n.1788T>A c.1321T>A (p.Tyr441Asn) c.1471T>A (p.Tyr491Asn) n.6055T>A n.513T>A c.643T>A (p.Tyr215Asn) c.1474T>A (p.Tyr492Asn) c.1465T>A (p.Tyr489Asn) c.1435T>A (p.Tyr479Asn) | |
5 | g.139325626T>C | CA361146611 | MATR3 | c.2335T>C (p.Tyr779His) c.2479T>C (p.Tyr827His) n.1788T>C c.1321T>C (p.Tyr441His) c.1471T>C (p.Tyr491His) n.6055T>C n.513T>C c.643T>C (p.Tyr215His) c.1474T>C (p.Tyr492His) c.1465T>C (p.Tyr489His) c.1435T>C (p.Tyr479His) | |
5 | g.139325626T>G | CA361146612 | MATR3 | c.2335T>G (p.Tyr779Asp) c.2479T>G (p.Tyr827Asp) n.1788T>G c.1321T>G (p.Tyr441Asp) c.1471T>G (p.Tyr491Asp) n.6055T>G n.513T>G c.643T>G (p.Tyr215Asp) c.1474T>G (p.Tyr492Asp) c.1465T>G (p.Tyr489Asp) c.1435T>G (p.Tyr479Asp) | |
5 | g.139325627A= | CA1586265280 | MATR3 | c.2336A= (p.Tyr779=) c.2480A= (p.Tyr827=) n.1789A= c.1322A= (p.Tyr441=) c.1472A= (p.Tyr491=) n.6056A= n.514A= c.644A= (p.Tyr215=) c.1475A= (p.Tyr492=) c.1466A= (p.Tyr489=) c.1436A= (p.Tyr479=) | |
5 | g.139325627A>C | CA361146613 | MATR3 | c.2336A>C (p.Tyr779Ser) c.2480A>C (p.Tyr827Ser) n.1789A>C c.1322A>C (p.Tyr441Ser) c.1472A>C (p.Tyr491Ser) n.6056A>C n.514A>C c.644A>C (p.Tyr215Ser) c.1475A>C (p.Tyr492Ser) c.1466A>C (p.Tyr489Ser) c.1436A>C (p.Tyr479Ser) | |
5 | g.139325627A>G | CA361146614 | MATR3 | c.2336A>G (p.Tyr779Cys) c.2480A>G (p.Tyr827Cys) n.1789A>G c.1322A>G (p.Tyr441Cys) c.1472A>G (p.Tyr491Cys) n.6056A>G n.514A>G c.644A>G (p.Tyr215Cys) c.1475A>G (p.Tyr492Cys) c.1466A>G (p.Tyr489Cys) c.1436A>G (p.Tyr479Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325627A>T | CA361146615 | MATR3 | c.2336A>T (p.Tyr779Phe) c.2480A>T (p.Tyr827Phe) n.1789A>T c.1322A>T (p.Tyr441Phe) c.1472A>T (p.Tyr491Phe) n.6056A>T n.514A>T c.644A>T (p.Tyr215Phe) c.1475A>T (p.Tyr492Phe) c.1466A>T (p.Tyr489Phe) c.1436A>T (p.Tyr479Phe) | |
5 | g.139325628T>A | CA361146616 | MATR3 | c.2337T>A (p.Tyr779Ter) c.2481T>A (p.Tyr827Ter) n.1790T>A c.1323T>A (p.Tyr441Ter) c.1473T>A (p.Tyr491Ter) n.6057T>A n.515T>A c.645T>A (p.Tyr215Ter) c.1476T>A (p.Tyr492Ter) c.1467T>A (p.Tyr489Ter) c.1437T>A (p.Tyr479Ter) | |
5 | g.139325628T>C | CA446793354 | MATR3 | c.2337T>C (p.Tyr779=) c.2481T>C (p.Tyr827=) n.1790T>C c.1323T>C (p.Tyr441=) c.1473T>C (p.Tyr491=) n.6057T>C n.515T>C c.645T>C (p.Tyr215=) c.1476T>C (p.Tyr492=) c.1467T>C (p.Tyr489=) c.1437T>C (p.Tyr479=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.139325628T>G | CA361146617 | MATR3 | c.2337T>G (p.Tyr779Ter) c.2481T>G (p.Tyr827Ter) n.1790T>G c.1323T>G (p.Tyr441Ter) c.1473T>G (p.Tyr491Ter) n.6057T>G n.515T>G c.645T>G (p.Tyr215Ter) c.1476T>G (p.Tyr492Ter) c.1467T>G (p.Tyr489Ter) c.1437T>G (p.Tyr479Ter) | |
5 | g.139325628T= | CA1586265282 | MATR3 | c.2337T= (p.Tyr779=) c.2481T= (p.Tyr827=) n.1790T= c.1323T= (p.Tyr441=) c.1473T= (p.Tyr491=) n.6057T= n.515T= c.645T= (p.Tyr215=) c.1476T= (p.Tyr492=) c.1467T= (p.Tyr489=) c.1437T= (p.Tyr479=) | |
5 | g.139325629A>C | CA446793355 | MATR3 | c.2338A>C (p.Arg780=) c.2482A>C (p.Arg828=) n.1791A>C c.1324A>C (p.Arg442=) c.1474A>C (p.Arg492=) n.6058A>C n.516A>C c.646A>C (p.Arg216=) c.1477A>C (p.Arg493=) c.1468A>C (p.Arg490=) c.1438A>C (p.Arg480=) | |
5 | g.139325629A>G | CA361146618 | MATR3 | c.2338A>G (p.Arg780Gly) c.2482A>G (p.Arg828Gly) n.1791A>G c.1324A>G (p.Arg442Gly) c.1474A>G (p.Arg492Gly) n.6058A>G n.516A>G c.646A>G (p.Arg216Gly) c.1477A>G (p.Arg493Gly) c.1468A>G (p.Arg490Gly) c.1438A>G (p.Arg480Gly) | gnomAD v4 |
5 | g.139325629A>T | CA361146619 | MATR3 | c.2338A>T (p.Arg780Ter) c.2482A>T (p.Arg828Ter) n.1791A>T c.1324A>T (p.Arg442Ter) c.1474A>T (p.Arg492Ter) n.6058A>T n.516A>T c.646A>T (p.Arg216Ter) c.1477A>T (p.Arg493Ter) c.1468A>T (p.Arg490Ter) c.1438A>T (p.Arg480Ter) | |
5 | g.139325630G>A | CA361146622 | MATR3 | c.2339G>A (p.Arg780Lys) c.2483G>A (p.Arg828Lys) n.1792G>A c.1325G>A (p.Arg442Lys) c.1475G>A (p.Arg492Lys) n.6059G>A n.517G>A c.647G>A (p.Arg216Lys) c.1478G>A (p.Arg493Lys) c.1469G>A (p.Arg490Lys) c.1439G>A (p.Arg480Lys) | |
5 | g.139325630G>C | CA361146620 | MATR3 | c.2339G>C (p.Arg780Thr) c.2483G>C (p.Arg828Thr) n.1792G>C c.1325G>C (p.Arg442Thr) c.1475G>C (p.Arg492Thr) n.6059G>C n.517G>C c.647G>C (p.Arg216Thr) c.1478G>C (p.Arg493Thr) c.1469G>C (p.Arg490Thr) c.1439G>C (p.Arg480Thr) | COSMIC COSMIC |
5 | g.139325630G>T | CA361146621 | MATR3 | c.2339G>T (p.Arg780Ile) c.2483G>T (p.Arg828Ile) n.1792G>T c.1325G>T (p.Arg442Ile) c.1475G>T (p.Arg492Ile) n.6059G>T n.517G>T c.647G>T (p.Arg216Ile) c.1478G>T (p.Arg493Ile) c.1469G>T (p.Arg490Ile) c.1439G>T (p.Arg480Ile) | |
5 | g.139325631A>C | CA361146623 | MATR3 | c.2340A>C (p.Arg780Ser) c.2484A>C (p.Arg828Ser) n.1793A>C c.1326A>C (p.Arg442Ser) c.1476A>C (p.Arg492Ser) n.6060A>C n.518A>C c.648A>C (p.Arg216Ser) c.1479A>C (p.Arg493Ser) c.1470A>C (p.Arg490Ser) c.1440A>C (p.Arg480Ser) | |
5 | g.139325631A>G | CA446793357 | MATR3 | c.2340A>G (p.Arg780=) c.2484A>G (p.Arg828=) n.1793A>G c.1326A>G (p.Arg442=) c.1476A>G (p.Arg492=) n.6060A>G n.518A>G c.648A>G (p.Arg216=) c.1479A>G (p.Arg493=) c.1470A>G (p.Arg490=) c.1440A>G (p.Arg480=) | gnomAD v4 |
5 | g.139325631A>T | CA361146624 | MATR3 | c.2340A>T (p.Arg780Ser) c.2484A>T (p.Arg828Ser) n.1793A>T c.1326A>T (p.Arg442Ser) c.1476A>T (p.Arg492Ser) n.6060A>T n.518A>T c.648A>T (p.Arg216Ser) c.1479A>T (p.Arg493Ser) c.1470A>T (p.Arg490Ser) c.1440A>T (p.Arg480Ser) | |
5 | g.139325632A>C | CA361146625 | MATR3 | c.2341A>C (p.Ile781Leu) c.2485A>C (p.Ile829Leu) n.1794A>C c.1327A>C (p.Ile443Leu) c.1477A>C (p.Ile493Leu) n.6061A>C n.519A>C c.649A>C (p.Ile217Leu) c.1480A>C (p.Ile494Leu) c.1471A>C (p.Ile491Leu) c.1441A>C (p.Ile481Leu) | |
5 | g.139325632A>G | CA361146626 | MATR3 | c.2341A>G (p.Ile781Val) c.2485A>G (p.Ile829Val) n.1794A>G c.1327A>G (p.Ile443Val) c.1477A>G (p.Ile493Val) n.6061A>G n.519A>G c.649A>G (p.Ile217Val) c.1480A>G (p.Ile494Val) c.1471A>G (p.Ile491Val) c.1441A>G (p.Ile481Val) | |
5 | g.139325632A>T | CA361146627 | MATR3 | c.2341A>T (p.Ile781Phe) c.2485A>T (p.Ile829Phe) n.1794A>T c.1327A>T (p.Ile443Phe) c.1477A>T (p.Ile493Phe) n.6061A>T n.519A>T c.649A>T (p.Ile217Phe) c.1480A>T (p.Ile494Phe) c.1471A>T (p.Ile491Phe) c.1441A>T (p.Ile481Phe) | |
5 | g.139325633T>A | CA361146628 | MATR3 | c.2342T>A (p.Ile781Asn) c.2486T>A (p.Ile829Asn) n.1795T>A c.1328T>A (p.Ile443Asn) c.1478T>A (p.Ile493Asn) n.6062T>A n.520T>A c.650T>A (p.Ile217Asn) c.1481T>A (p.Ile494Asn) c.1472T>A (p.Ile491Asn) c.1442T>A (p.Ile481Asn) | |
5 | g.139325633T>C | CA361146629 | MATR3 | c.2342T>C (p.Ile781Thr) c.2486T>C (p.Ile829Thr) n.1795T>C c.1328T>C (p.Ile443Thr) c.1478T>C (p.Ile493Thr) n.6062T>C n.520T>C c.650T>C (p.Ile217Thr) c.1481T>C (p.Ile494Thr) c.1472T>C (p.Ile491Thr) c.1442T>C (p.Ile481Thr) | |
5 | g.139325633T>G | CA361146630 | MATR3 | c.2342T>G (p.Ile781Ser) c.2486T>G (p.Ile829Ser) n.1795T>G c.1328T>G (p.Ile443Ser) c.1478T>G (p.Ile493Ser) n.6062T>G n.520T>G c.650T>G (p.Ile217Ser) c.1481T>G (p.Ile494Ser) c.1472T>G (p.Ile491Ser) c.1442T>G (p.Ile481Ser) | |
5 | g.139325634T>A | CA446793358 | MATR3 | c.2343T>A (p.Ile781=) c.2487T>A (p.Ile829=) n.1796T>A c.1329T>A (p.Ile443=) c.1479T>A (p.Ile493=) n.6063T>A n.521T>A c.651T>A (p.Ile217=) c.1482T>A (p.Ile494=) c.1473T>A (p.Ile491=) c.1443T>A (p.Ile481=) | |
5 | g.139325634T>C | CA446793359 | MATR3 | c.2343T>C (p.Ile781=) c.2487T>C (p.Ile829=) n.1796T>C c.1329T>C (p.Ile443=) c.1479T>C (p.Ile493=) n.6063T>C n.521T>C c.651T>C (p.Ile217=) c.1482T>C (p.Ile494=) c.1473T>C (p.Ile491=) c.1443T>C (p.Ile481=) | |
5 | g.139325634T>G | CA361146631 | MATR3 | c.2343T>G (p.Ile781Met) c.2487T>G (p.Ile829Met) n.1796T>G c.1329T>G (p.Ile443Met) c.1479T>G (p.Ile493Met) n.6063T>G n.521T>G c.651T>G (p.Ile217Met) c.1482T>G (p.Ile494Met) c.1473T>G (p.Ile491Met) c.1443T>G (p.Ile481Met) | |
5 | g.139325635G>A | CA361146632 | MATR3 | c.2344G>A (p.Gly782Arg) c.2488G>A (p.Gly830Arg) n.1797G>A c.1330G>A (p.Gly444Arg) c.1480G>A (p.Gly494Arg) n.6064G>A n.522G>A c.652G>A (p.Gly218Arg) c.1483G>A (p.Gly495Arg) c.1474G>A (p.Gly492Arg) c.1444G>A (p.Gly482Arg) | |
5 | g.139325635G>C | CA361146633 | MATR3 | c.2344G>C (p.Gly782Arg) c.2488G>C (p.Gly830Arg) n.1797G>C c.1330G>C (p.Gly444Arg) c.1480G>C (p.Gly494Arg) n.6064G>C n.522G>C c.652G>C (p.Gly218Arg) c.1483G>C (p.Gly495Arg) c.1474G>C (p.Gly492Arg) c.1444G>C (p.Gly482Arg) | |
5 | g.139325635G>T | CA361146634 | MATR3 | c.2344G>T (p.Gly782Ter) c.2488G>T (p.Gly830Ter) n.1797G>T c.1330G>T (p.Gly444Ter) c.1480G>T (p.Gly494Ter) n.6064G>T n.522G>T c.652G>T (p.Gly218Ter) c.1483G>T (p.Gly495Ter) c.1474G>T (p.Gly492Ter) c.1444G>T (p.Gly482Ter) | |
5 | g.139325636G>A | CA361146635 | MATR3 | c.2345G>A (p.Gly782Glu) c.2489G>A (p.Gly830Glu) n.1798G>A c.1331G>A (p.Gly444Glu) c.1481G>A (p.Gly494Glu) n.6065G>A n.523G>A c.653G>A (p.Gly218Glu) c.1484G>A (p.Gly495Glu) c.1475G>A (p.Gly492Glu) c.1445G>A (p.Gly482Glu) | |
5 | g.139325636G>C | CA361146636 | MATR3 | c.2345G>C (p.Gly782Ala) c.2489G>C (p.Gly830Ala) n.1798G>C c.1331G>C (p.Gly444Ala) c.1481G>C (p.Gly494Ala) n.6065G>C n.523G>C c.653G>C (p.Gly218Ala) c.1484G>C (p.Gly495Ala) c.1475G>C (p.Gly492Ala) c.1445G>C (p.Gly482Ala) | |
5 | g.139325636G>T | CA361146637 | MATR3 | c.2345G>T (p.Gly782Val) c.2489G>T (p.Gly830Val) n.1798G>T c.1331G>T (p.Gly444Val) c.1481G>T (p.Gly494Val) n.6065G>T n.523G>T c.653G>T (p.Gly218Val) c.1484G>T (p.Gly495Val) c.1475G>T (p.Gly492Val) c.1445G>T (p.Gly482Val) | |
5 | g.139325637A= | CA1586265284 | MATR3 | c.2346A= (p.Gly782=) c.2490A= (p.Gly830=) n.1799A= c.1332A= (p.Gly444=) c.1482A= (p.Gly494=) n.6066A= n.524A= c.654A= (p.Gly218=) c.1485A= (p.Gly495=) c.1476A= (p.Gly492=) c.1446A= (p.Gly482=) | |
5 | g.139325637A>C | CA446793362 | MATR3 | c.2346A>C (p.Gly782=) c.2490A>C (p.Gly830=) n.1799A>C c.1332A>C (p.Gly444=) c.1482A>C (p.Gly494=) n.6066A>C n.524A>C c.654A>C (p.Gly218=) c.1485A>C (p.Gly495=) c.1476A>C (p.Gly492=) c.1446A>C (p.Gly482=) | |
5 | g.139325637A>G | CA446793363 | MATR3 | c.2346A>G (p.Gly782=) c.2490A>G (p.Gly830=) n.1799A>G c.1332A>G (p.Gly444=) c.1482A>G (p.Gly494=) n.6066A>G n.524A>G c.654A>G (p.Gly218=) c.1485A>G (p.Gly495=) c.1476A>G (p.Gly492=) c.1446A>G (p.Gly482=) | dbSNP gnomAD v4 |
5 | g.139325637A>T | CA446793364 | MATR3 | c.2346A>T (p.Gly782=) c.2490A>T (p.Gly830=) n.1799A>T c.1332A>T (p.Gly444=) c.1482A>T (p.Gly494=) n.6066A>T n.524A>T c.654A>T (p.Gly218=) c.1485A>T (p.Gly495=) c.1476A>T (p.Gly492=) c.1446A>T (p.Gly482=) | |
5 | g.139325638C>A | CA361146638 | MATR3 | c.2347C>A (p.Pro783Thr) c.2491C>A (p.Pro831Thr) n.1800C>A c.1333C>A (p.Pro445Thr) c.1483C>A (p.Pro495Thr) n.6067C>A n.525C>A c.655C>A (p.Pro219Thr) c.1486C>A (p.Pro496Thr) c.1477C>A (p.Pro493Thr) c.1447C>A (p.Pro483Thr) | |
5 | g.139325638C>G | CA361146640 | MATR3 | c.2347C>G (p.Pro783Ala) c.2491C>G (p.Pro831Ala) n.1800C>G c.1333C>G (p.Pro445Ala) c.1483C>G (p.Pro495Ala) n.6067C>G n.525C>G c.655C>G (p.Pro219Ala) c.1486C>G (p.Pro496Ala) c.1477C>G (p.Pro493Ala) c.1447C>G (p.Pro483Ala) | |
5 | g.139325638C>T | CA361146639 | MATR3 | c.2347C>T (p.Pro783Ser) c.2491C>T (p.Pro831Ser) n.1800C>T c.1333C>T (p.Pro445Ser) c.1483C>T (p.Pro495Ser) n.6067C>T n.525C>T c.655C>T (p.Pro219Ser) c.1486C>T (p.Pro496Ser) c.1477C>T (p.Pro493Ser) c.1447C>T (p.Pro483Ser) | |
5 | g.139325639C>A | CA361146641 | MATR3 | c.2348C>A (p.Pro783Gln) c.2492C>A (p.Pro831Gln) n.1801C>A c.1334C>A (p.Pro445Gln) c.1484C>A (p.Pro495Gln) n.6068C>A n.526C>A c.656C>A (p.Pro219Gln) c.1487C>A (p.Pro496Gln) c.1478C>A (p.Pro493Gln) c.1448C>A (p.Pro483Gln) | ClinVar |
5 | g.139325639C= | CA1586265286 | MATR3 | c.2348C= (p.Pro783=) c.2492C= (p.Pro831=) n.1801C= c.1334C= (p.Pro445=) c.1484C= (p.Pro495=) n.6068C= n.526C= c.656C= (p.Pro219=) c.1487C= (p.Pro496=) c.1478C= (p.Pro493=) c.1448C= (p.Pro483=) | |
5 | g.139325639C>G | CA361146642 | MATR3 | c.2348C>G (p.Pro783Arg) c.2492C>G (p.Pro831Arg) n.1801C>G c.1334C>G (p.Pro445Arg) c.1484C>G (p.Pro495Arg) n.6068C>G n.526C>G c.656C>G (p.Pro219Arg) c.1487C>G (p.Pro496Arg) c.1478C>G (p.Pro493Arg) c.1448C>G (p.Pro483Arg) | ClinVar |
5 | g.139325639C>T | CA361146643 | MATR3 | c.2348C>T (p.Pro783Leu) c.2492C>T (p.Pro831Leu) n.1801C>T c.1334C>T (p.Pro445Leu) c.1484C>T (p.Pro495Leu) n.6068C>T n.526C>T c.656C>T (p.Pro219Leu) c.1487C>T (p.Pro496Leu) c.1478C>T (p.Pro493Leu) c.1448C>T (p.Pro483Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139325640A= | CA1586265289 | MATR3 | c.2349A= (p.Pro783=) c.2493A= (p.Pro831=) n.1802A= c.1335A= (p.Pro445=) c.1485A= (p.Pro495=) n.6069A= n.527A= c.657A= (p.Pro219=) c.1488A= (p.Pro496=) c.1479A= (p.Pro493=) c.1449A= (p.Pro483=) | |
5 | g.139325640A>C | CA446793366 | MATR3 | c.2349A>C (p.Pro783=) c.2493A>C (p.Pro831=) n.1802A>C c.1335A>C (p.Pro445=) c.1485A>C (p.Pro495=) n.6069A>C n.527A>C c.657A>C (p.Pro219=) c.1488A>C (p.Pro496=) c.1479A>C (p.Pro493=) c.1449A>C (p.Pro483=) | |
5 | g.139325640A>G | CA446793367 | MATR3 | c.2349A>G (p.Pro783=) c.2493A>G (p.Pro831=) n.1802A>G c.1335A>G (p.Pro445=) c.1485A>G (p.Pro495=) n.6069A>G n.527A>G c.657A>G (p.Pro219=) c.1488A>G (p.Pro496=) c.1479A>G (p.Pro493=) c.1449A>G (p.Pro483=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.139325640A>T | CA446793369 | MATR3 | c.2349A>T (p.Pro783=) c.2493A>T (p.Pro831=) n.1802A>T c.1335A>T (p.Pro445=) c.1485A>T (p.Pro495=) n.6069A>T n.527A>T c.657A>T (p.Pro219=) c.1488A>T (p.Pro496=) c.1479A>T (p.Pro493=) c.1449A>T (p.Pro483=) | gnomAD v4 |
5 | g.139325641T>A | CA361146644 | MATR3 | c.2350T>A (p.Tyr784Asn) c.2494T>A (p.Tyr832Asn) n.1803T>A c.1336T>A (p.Tyr446Asn) c.1486T>A (p.Tyr496Asn) n.6070T>A n.528T>A c.658T>A (p.Tyr220Asn) c.1489T>A (p.Tyr497Asn) c.1480T>A (p.Tyr494Asn) c.1450T>A (p.Tyr484Asn) | |
5 | g.139325641T>C | CA361146645 | MATR3 | c.2350T>C (p.Tyr784His) c.2494T>C (p.Tyr832His) n.1803T>C c.1336T>C (p.Tyr446His) c.1486T>C (p.Tyr496His) n.6070T>C n.528T>C c.658T>C (p.Tyr220His) c.1489T>C (p.Tyr497His) c.1480T>C (p.Tyr494His) c.1450T>C (p.Tyr484His) | |
5 | g.139325641T>G | CA361146646 | MATR3 | c.2350T>G (p.Tyr784Asp) c.2494T>G (p.Tyr832Asp) n.1803T>G c.1336T>G (p.Tyr446Asp) c.1486T>G (p.Tyr496Asp) n.6070T>G n.528T>G c.658T>G (p.Tyr220Asp) c.1489T>G (p.Tyr497Asp) c.1480T>G (p.Tyr494Asp) c.1450T>G (p.Tyr484Asp) | |
5 | g.139325642A>C | CA361146647 | MATR3 | c.2351A>C (p.Tyr784Ser) c.2495A>C (p.Tyr832Ser) n.1804A>C c.1337A>C (p.Tyr446Ser) c.1487A>C (p.Tyr496Ser) n.6071A>C n.529A>C c.659A>C (p.Tyr220Ser) c.1490A>C (p.Tyr497Ser) c.1481A>C (p.Tyr494Ser) c.1451A>C (p.Tyr484Ser) | |
5 | g.139325642A>G | CA361146648 | MATR3 | c.2351A>G (p.Tyr784Cys) c.2495A>G (p.Tyr832Cys) n.1804A>G c.1337A>G (p.Tyr446Cys) c.1487A>G (p.Tyr496Cys) n.6071A>G n.529A>G c.659A>G (p.Tyr220Cys) c.1490A>G (p.Tyr497Cys) c.1481A>G (p.Tyr494Cys) c.1451A>G (p.Tyr484Cys) | |
5 | g.139325642A>T | CA361146649 | MATR3 | c.2351A>T (p.Tyr784Phe) c.2495A>T (p.Tyr832Phe) n.1804A>T c.1337A>T (p.Tyr446Phe) c.1487A>T (p.Tyr496Phe) n.6071A>T n.529A>T c.659A>T (p.Tyr220Phe) c.1490A>T (p.Tyr497Phe) c.1481A>T (p.Tyr494Phe) c.1451A>T (p.Tyr484Phe) | |
5 | g.139325643T>A | CA361146650 | MATR3 | c.2352T>A (p.Tyr784Ter) c.2496T>A (p.Tyr832Ter) n.1805T>A c.1338T>A (p.Tyr446Ter) c.1488T>A (p.Tyr496Ter) n.6072T>A n.530T>A c.660T>A (p.Tyr220Ter) c.1491T>A (p.Tyr497Ter) c.1482T>A (p.Tyr494Ter) c.1452T>A (p.Tyr484Ter) | |
5 | g.139325643T>C | CA446793371 | MATR3 | c.2352T>C (p.Tyr784=) c.2496T>C (p.Tyr832=) n.1805T>C c.1338T>C (p.Tyr446=) c.1488T>C (p.Tyr496=) n.6072T>C n.530T>C c.660T>C (p.Tyr220=) c.1491T>C (p.Tyr497=) c.1482T>C (p.Tyr494=) c.1452T>C (p.Tyr484=) | |
5 | g.139325643T>G | CA361146651 | MATR3 | c.2352T>G (p.Tyr784Ter) c.2496T>G (p.Tyr832Ter) n.1805T>G c.1338T>G (p.Tyr446Ter) c.1488T>G (p.Tyr496Ter) n.6072T>G n.530T>G c.660T>G (p.Tyr220Ter) c.1491T>G (p.Tyr497Ter) c.1482T>G (p.Tyr494Ter) c.1452T>G (p.Tyr484Ter) | |
5 | g.139325644C>A | CA361146654 | MATR3 | c.2353C>A (p.Gln785Lys) c.2497C>A (p.Gln833Lys) n.1806C>A c.1339C>A (p.Gln447Lys) c.1489C>A (p.Gln497Lys) n.6073C>A n.531C>A c.661C>A (p.Gln221Lys) c.1492C>A (p.Gln498Lys) c.1483C>A (p.Gln495Lys) c.1453C>A (p.Gln485Lys) | |
5 | g.139325644C>G | CA361146653 | MATR3 | c.2353C>G (p.Gln785Glu) c.2497C>G (p.Gln833Glu) n.1806C>G c.1339C>G (p.Gln447Glu) c.1489C>G (p.Gln497Glu) n.6073C>G n.531C>G c.661C>G (p.Gln221Glu) c.1492C>G (p.Gln498Glu) c.1483C>G (p.Gln495Glu) c.1453C>G (p.Gln485Glu) | gnomAD v4 |
5 | g.139325644C>T | CA361146652 | MATR3 | c.2353C>T (p.Gln785Ter) c.2497C>T (p.Gln833Ter) n.1806C>T c.1339C>T (p.Gln447Ter) c.1489C>T (p.Gln497Ter) n.6073C>T n.531C>T c.661C>T (p.Gln221Ter) c.1492C>T (p.Gln498Ter) c.1483C>T (p.Gln495Ter) c.1453C>T (p.Gln485Ter) | COSMIC COSMIC |
5 | g.139325645A>C | CA361146657 | MATR3 | c.2354A>C (p.Gln785Pro) c.2498A>C (p.Gln833Pro) n.1807A>C c.1340A>C (p.Gln447Pro) c.1490A>C (p.Gln497Pro) n.6074A>C n.532A>C c.662A>C (p.Gln221Pro) c.1493A>C (p.Gln498Pro) c.1484A>C (p.Gln495Pro) c.1454A>C (p.Gln485Pro) | |
5 | g.139325645A>G | CA361146655 | MATR3 | c.2354A>G (p.Gln785Arg) c.2498A>G (p.Gln833Arg) n.1807A>G c.1340A>G (p.Gln447Arg) c.1490A>G (p.Gln497Arg) n.6074A>G n.532A>G c.662A>G (p.Gln221Arg) c.1493A>G (p.Gln498Arg) c.1484A>G (p.Gln495Arg) c.1454A>G (p.Gln485Arg) | |
5 | g.139325645A>T | CA361146656 | MATR3 | c.2354A>T (p.Gln785Leu) c.2498A>T (p.Gln833Leu) n.1807A>T c.1340A>T (p.Gln447Leu) c.1490A>T (p.Gln497Leu) n.6074A>T n.532A>T c.662A>T (p.Gln221Leu) c.1493A>T (p.Gln498Leu) c.1484A>T (p.Gln495Leu) c.1454A>T (p.Gln485Leu) | |
5 | g.139325646G>A | CA3433424 | MATR3 | c.2355G>A (p.Gln785=) c.2499G>A (p.Gln833=) n.1808G>A c.1341G>A (p.Gln447=) c.1491G>A (p.Gln497=) n.6075G>A n.533G>A c.663G>A (p.Gln221=) c.1494G>A (p.Gln498=) c.1485G>A (p.Gln495=) c.1455G>A (p.Gln485=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.139325646G>C | CA361146658 | MATR3 | c.2355G>C (p.Gln785His) c.2499G>C (p.Gln833His) n.1808G>C c.1341G>C (p.Gln447His) c.1491G>C (p.Gln497His) n.6075G>C n.533G>C c.663G>C (p.Gln221His) c.1494G>C (p.Gln498His) c.1485G>C (p.Gln495His) c.1455G>C (p.Gln485His) | |
5 | g.139325646G= | CA1586265292 | MATR3 | c.2355G= (p.Gln785=) c.2499G= (p.Gln833=) n.1808G= c.1341G= (p.Gln447=) c.1491G= (p.Gln497=) n.6075G= n.533G= c.663G= (p.Gln221=) c.1494G= (p.Gln498=) c.1485G= (p.Gln495=) c.1455G= (p.Gln485=) | |
5 | g.139325646G>T | CA361146659 | MATR3 | c.2355G>T (p.Gln785His) c.2499G>T (p.Gln833His) n.1808G>T c.1341G>T (p.Gln447His) c.1491G>T (p.Gln497His) n.6075G>T n.533G>T c.663G>T (p.Gln221His) c.1494G>T (p.Gln498His) c.1485G>T (p.Gln495His) c.1455G>T (p.Gln485His) |