Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237336271C>A | CA351191338 | COL6A3 | c.1474G>T c.8211G>T (p.Lys2737Asn) c.956G>T n.1096G>T c.8829G>T (p.Lys2943Asn) c.7005G>T (p.Lys2335Asn) c.7008G>T (p.Lys2336Asn) n.5271G>T c.8229G>T (p.Lys2743Asn) c.7608G>T (p.Lys2536Asn) c.8328G>T (p.Lys2776Asn) c.8826G>T (p.Lys2942Asn) c.6423G>T (p.Lys2141Asn) | |
2 | g.237336271C>G | CA351191340 | COL6A3 | c.1474G>C c.8211G>C (p.Lys2737Asn) c.956G>C n.1096G>C c.8829G>C (p.Lys2943Asn) c.7005G>C (p.Lys2335Asn) c.7008G>C (p.Lys2336Asn) n.5271G>C c.8229G>C (p.Lys2743Asn) c.7608G>C (p.Lys2536Asn) c.8328G>C (p.Lys2776Asn) c.8826G>C (p.Lys2942Asn) c.6423G>C (p.Lys2141Asn) | |
2 | g.237336271C>T | CA431701338 | COL6A3 | c.1474G>A c.8211G>A (p.Lys2737=) c.956G>A n.1096G>A c.8829G>A (p.Lys2943=) c.7005G>A (p.Lys2335=) c.7008G>A (p.Lys2336=) n.5271G>A c.8229G>A (p.Lys2743=) c.7608G>A (p.Lys2536=) c.8328G>A (p.Lys2776=) c.8826G>A (p.Lys2942=) c.6423G>A (p.Lys2141=) | gnomAD v4 |
2 | g.237336272T>A | CA351191343 | COL6A3 | c.1473A>T c.8210A>T (p.Lys2737Met) c.955A>T n.1095A>T c.8828A>T (p.Lys2943Met) c.7004A>T (p.Lys2335Met) c.7007A>T (p.Lys2336Met) n.5270A>T c.8228A>T (p.Lys2743Met) c.7607A>T (p.Lys2536Met) c.8327A>T (p.Lys2776Met) c.8825A>T (p.Lys2942Met) c.6422A>T (p.Lys2141Met) | |
2 | g.237336272T>C | CA351191346 | COL6A3 | c.1473A>G c.8210A>G (p.Lys2737Arg) c.955A>G n.1095A>G c.8828A>G (p.Lys2943Arg) c.7004A>G (p.Lys2335Arg) c.7007A>G (p.Lys2336Arg) n.5270A>G c.8228A>G (p.Lys2743Arg) c.7607A>G (p.Lys2536Arg) c.8327A>G (p.Lys2776Arg) c.8825A>G (p.Lys2942Arg) c.6422A>G (p.Lys2141Arg) | ClinVar dbSNP |
2 | g.237336272T>G | CA351191348 | COL6A3 | c.1473A>C c.8210A>C (p.Lys2737Thr) c.955A>C n.1095A>C c.8828A>C (p.Lys2943Thr) c.7004A>C (p.Lys2335Thr) c.7007A>C (p.Lys2336Thr) n.5270A>C c.8228A>C (p.Lys2743Thr) c.7607A>C (p.Lys2536Thr) c.8327A>C (p.Lys2776Thr) c.8825A>C (p.Lys2942Thr) c.6422A>C (p.Lys2141Thr) | |
2 | g.237336272T= | CA1337607110 | COL6A3 | c.1473A= c.8210A= (p.Lys2737=) c.955A= n.1095A= c.8828A= (p.Lys2943=) c.7004A= (p.Lys2335=) c.7007A= (p.Lys2336=) n.5270A= c.8228A= (p.Lys2743=) c.7607A= (p.Lys2536=) c.8327A= (p.Lys2776=) c.8825A= (p.Lys2942=) c.6422A= (p.Lys2141=) | |
2 | g.237336273T>A | CA351191350 | COL6A3 | c.1472A>T c.8209A>T (p.Lys2737Ter) c.954A>T n.1094A>T c.8827A>T (p.Lys2943Ter) c.7003A>T (p.Lys2335Ter) c.7006A>T (p.Lys2336Ter) n.5269A>T c.8227A>T (p.Lys2743Ter) c.7606A>T (p.Lys2536Ter) c.8326A>T (p.Lys2776Ter) c.8824A>T (p.Lys2942Ter) c.6421A>T (p.Lys2141Ter) | |
2 | g.237336273T>C | CA351191352 | COL6A3 | c.1472A>G c.8209A>G (p.Lys2737Glu) c.954A>G n.1094A>G c.8827A>G (p.Lys2943Glu) c.7003A>G (p.Lys2335Glu) c.7006A>G (p.Lys2336Glu) n.5269A>G c.8227A>G (p.Lys2743Glu) c.7606A>G (p.Lys2536Glu) c.8326A>G (p.Lys2776Glu) c.8824A>G (p.Lys2942Glu) c.6421A>G (p.Lys2141Glu) | |
2 | g.237336273T>G | CA351191354 | COL6A3 | c.1472A>C c.8209A>C (p.Lys2737Gln) c.954A>C n.1094A>C c.8827A>C (p.Lys2943Gln) c.7003A>C (p.Lys2335Gln) c.7006A>C (p.Lys2336Gln) n.5269A>C c.8227A>C (p.Lys2743Gln) c.7606A>C (p.Lys2536Gln) c.8326A>C (p.Lys2776Gln) c.8824A>C (p.Lys2942Gln) c.6421A>C (p.Lys2141Gln) | |
2 | g.237336274C>A | CA431701362 | COL6A3 | c.1471G>T c.8208G>T (p.Ala2736=) c.953G>T n.1093G>T c.8826G>T (p.Ala2942=) c.7002G>T (p.Ala2334=) c.7005G>T (p.Ala2335=) n.5268G>T c.8226G>T (p.Ala2742=) c.7605G>T (p.Ala2535=) c.8325G>T (p.Ala2775=) c.8823G>T (p.Ala2941=) c.6420G>T (p.Ala2140=) | gnomAD v4 |
2 | g.237336274C= | CA1337607111 | COL6A3 | c.1471G= c.8208G= (p.Ala2736=) c.953G= n.1093G= c.8826G= (p.Ala2942=) c.7002G= (p.Ala2334=) c.7005G= (p.Ala2335=) n.5268G= c.8226G= (p.Ala2742=) c.7605G= (p.Ala2535=) c.8325G= (p.Ala2775=) c.8823G= (p.Ala2941=) c.6420G= (p.Ala2140=) | |
2 | g.237336274C>G | CA431701367 | COL6A3 | c.1471G>C c.8208G>C (p.Ala2736=) c.953G>C n.1093G>C c.8826G>C (p.Ala2942=) c.7002G>C (p.Ala2334=) c.7005G>C (p.Ala2335=) n.5268G>C c.8226G>C (p.Ala2742=) c.7605G>C (p.Ala2535=) c.8325G>C (p.Ala2775=) c.8823G>C (p.Ala2941=) c.6420G>C (p.Ala2140=) | |
2 | g.237336274C>T | CA2187436 | COL6A3 | c.1471G>A c.8208G>A (p.Ala2736=) c.953G>A n.1093G>A c.8826G>A (p.Ala2942=) c.7002G>A (p.Ala2334=) c.7005G>A (p.Ala2335=) n.5268G>A c.8226G>A (p.Ala2742=) c.7605G>A (p.Ala2535=) c.8325G>A (p.Ala2775=) c.8823G>A (p.Ala2941=) c.6420G>A (p.Ala2140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336275G>A | CA2187437 | COL6A3 | c.1470C>T c.8207C>T (p.Ala2736Val) c.952C>T n.1092C>T c.8825C>T (p.Ala2942Val) c.7001C>T (p.Ala2334Val) c.7004C>T (p.Ala2335Val) n.5267C>T c.8225C>T (p.Ala2742Val) c.7604C>T (p.Ala2535Val) c.8324C>T (p.Ala2775Val) c.8822C>T (p.Ala2941Val) c.6419C>T (p.Ala2140Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237336275G>C | CA351191358 | COL6A3 | c.1470C>G c.8207C>G (p.Ala2736Gly) c.952C>G n.1092C>G c.8825C>G (p.Ala2942Gly) c.7001C>G (p.Ala2334Gly) c.7004C>G (p.Ala2335Gly) n.5267C>G c.8225C>G (p.Ala2742Gly) c.7604C>G (p.Ala2535Gly) c.8324C>G (p.Ala2775Gly) c.8822C>G (p.Ala2941Gly) c.6419C>G (p.Ala2140Gly) | |
2 | g.237336275G= | CA1337607112 | COL6A3 | c.1470C= c.8207C= (p.Ala2736=) c.952C= n.1092C= c.8825C= (p.Ala2942=) c.7001C= (p.Ala2334=) c.7004C= (p.Ala2335=) n.5267C= c.8225C= (p.Ala2742=) c.7604C= (p.Ala2535=) c.8324C= (p.Ala2775=) c.8822C= (p.Ala2941=) c.6419C= (p.Ala2140=) | |
2 | g.237336275G>T | CA351191360 | COL6A3 | c.1470C>A c.8207C>A (p.Ala2736Glu) c.952C>A n.1092C>A c.8825C>A (p.Ala2942Glu) c.7001C>A (p.Ala2334Glu) c.7004C>A (p.Ala2335Glu) n.5267C>A c.8225C>A (p.Ala2742Glu) c.7604C>A (p.Ala2535Glu) c.8324C>A (p.Ala2775Glu) c.8822C>A (p.Ala2941Glu) c.6419C>A (p.Ala2140Glu) | gnomAD v4 |
2 | g.237336276C>A | CA351191366 | COL6A3 | c.1469G>T c.8206G>T (p.Ala2736Ser) c.951G>T n.1091G>T c.8824G>T (p.Ala2942Ser) c.7000G>T (p.Ala2334Ser) c.7003G>T (p.Ala2335Ser) n.5266G>T c.8224G>T (p.Ala2742Ser) c.7603G>T (p.Ala2535Ser) c.8323G>T (p.Ala2775Ser) c.8821G>T (p.Ala2941Ser) c.6418G>T (p.Ala2140Ser) | |
2 | g.237336276C= | CA1337607113 | COL6A3 | c.1469G= c.8206G= (p.Ala2736=) c.951G= n.1091G= c.8824G= (p.Ala2942=) c.7000G= (p.Ala2334=) c.7003G= (p.Ala2335=) n.5266G= c.8224G= (p.Ala2742=) c.7603G= (p.Ala2535=) c.8323G= (p.Ala2775=) c.8821G= (p.Ala2941=) c.6418G= (p.Ala2140=) | |
2 | g.237336276C>G | CA351191368 | COL6A3 | c.1469G>C c.8206G>C (p.Ala2736Pro) c.951G>C n.1091G>C c.8824G>C (p.Ala2942Pro) c.7000G>C (p.Ala2334Pro) c.7003G>C (p.Ala2335Pro) n.5266G>C c.8224G>C (p.Ala2742Pro) c.7603G>C (p.Ala2535Pro) c.8323G>C (p.Ala2775Pro) c.8821G>C (p.Ala2941Pro) c.6418G>C (p.Ala2140Pro) | |
2 | g.237336276C>T | CA351191363 | COL6A3 | c.1469G>A c.8206G>A (p.Ala2736Thr) c.951G>A n.1091G>A c.8824G>A (p.Ala2942Thr) c.7000G>A (p.Ala2334Thr) c.7003G>A (p.Ala2335Thr) n.5266G>A c.8224G>A (p.Ala2742Thr) c.7603G>A (p.Ala2535Thr) c.8323G>A (p.Ala2775Thr) c.8821G>A (p.Ala2941Thr) c.6418G>A (p.Ala2140Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.237336277T>A | CA431701405 | COL6A3 | c.1468A>T c.8205A>T (p.Ala2735=) c.950A>T n.1090A>T c.8823A>T (p.Ala2941=) c.6999A>T (p.Ala2333=) c.7002A>T (p.Ala2334=) n.5265A>T c.8223A>T (p.Ala2741=) c.7602A>T (p.Ala2534=) c.8322A>T (p.Ala2774=) c.8820A>T (p.Ala2940=) c.6417A>T (p.Ala2139=) | |
2 | g.237336277T>C | CA431701408 | COL6A3 | c.1468A>G c.8205A>G (p.Ala2735=) c.950A>G n.1090A>G c.8823A>G (p.Ala2941=) c.6999A>G (p.Ala2333=) c.7002A>G (p.Ala2334=) n.5265A>G c.8223A>G (p.Ala2741=) c.7602A>G (p.Ala2534=) c.8322A>G (p.Ala2774=) c.8820A>G (p.Ala2940=) c.6417A>G (p.Ala2139=) | |
2 | g.237336277T>G | CA431701414 | COL6A3 | c.1468A>C c.8205A>C (p.Ala2735=) c.950A>C n.1090A>C c.8823A>C (p.Ala2941=) c.6999A>C (p.Ala2333=) c.7002A>C (p.Ala2334=) n.5265A>C c.8223A>C (p.Ala2741=) c.7602A>C (p.Ala2534=) c.8322A>C (p.Ala2774=) c.8820A>C (p.Ala2940=) c.6417A>C (p.Ala2139=) | |
2 | g.237336278G>A | CA148075 | COL6A3 | c.1467C>T c.8204C>T (p.Ala2735Val) c.949C>T n.1089C>T c.8822C>T (p.Ala2941Val) c.6998C>T (p.Ala2333Val) c.7001C>T (p.Ala2334Val) n.5264C>T c.8222C>T (p.Ala2741Val) c.7601C>T (p.Ala2534Val) c.8321C>T (p.Ala2774Val) c.8819C>T (p.Ala2940Val) c.6416C>T (p.Ala2139Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336278G>C | CA351191371 | COL6A3 | c.1467C>G c.8204C>G (p.Ala2735Gly) c.949C>G n.1089C>G c.8822C>G (p.Ala2941Gly) c.6998C>G (p.Ala2333Gly) c.7001C>G (p.Ala2334Gly) n.5264C>G c.8222C>G (p.Ala2741Gly) c.7601C>G (p.Ala2534Gly) c.8321C>G (p.Ala2774Gly) c.8819C>G (p.Ala2940Gly) c.6416C>G (p.Ala2139Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336278G= | CA1337607114 | COL6A3 | c.1467C= c.8204C= (p.Ala2735=) c.949C= n.1089C= c.8822C= (p.Ala2941=) c.6998C= (p.Ala2333=) c.7001C= (p.Ala2334=) n.5264C= c.8222C= (p.Ala2741=) c.7601C= (p.Ala2534=) c.8321C= (p.Ala2774=) c.8819C= (p.Ala2940=) c.6416C= (p.Ala2139=) | |
2 | g.237336278G>T | CA351191375 | COL6A3 | c.1467C>A c.8204C>A (p.Ala2735Glu) c.949C>A n.1089C>A c.8822C>A (p.Ala2941Glu) c.6998C>A (p.Ala2333Glu) c.7001C>A (p.Ala2334Glu) n.5264C>A c.8222C>A (p.Ala2741Glu) c.7601C>A (p.Ala2534Glu) c.8321C>A (p.Ala2774Glu) c.8819C>A (p.Ala2940Glu) c.6416C>A (p.Ala2139Glu) | |
2 | g.237336279C>A | CA351191378 | COL6A3 | c.1466G>T c.8203G>T (p.Ala2735Ser) c.948G>T n.1088G>T c.8821G>T (p.Ala2941Ser) c.6997G>T (p.Ala2333Ser) c.7000G>T (p.Ala2334Ser) n.5263G>T c.8221G>T (p.Ala2741Ser) c.7600G>T (p.Ala2534Ser) c.8320G>T (p.Ala2774Ser) c.8818G>T (p.Ala2940Ser) c.6415G>T (p.Ala2139Ser) | |
2 | g.237336279C>G | CA351191380 | COL6A3 | c.1466G>C c.8203G>C (p.Ala2735Pro) c.948G>C n.1088G>C c.8821G>C (p.Ala2941Pro) c.6997G>C (p.Ala2333Pro) c.7000G>C (p.Ala2334Pro) n.5263G>C c.8221G>C (p.Ala2741Pro) c.7600G>C (p.Ala2534Pro) c.8320G>C (p.Ala2774Pro) c.8818G>C (p.Ala2940Pro) c.6415G>C (p.Ala2139Pro) | |
2 | g.237336279C>T | CA351191382 | COL6A3 | c.1466G>A c.8203G>A (p.Ala2735Thr) c.948G>A n.1088G>A c.8821G>A (p.Ala2941Thr) c.6997G>A (p.Ala2333Thr) c.7000G>A (p.Ala2334Thr) n.5263G>A c.8221G>A (p.Ala2741Thr) c.7600G>A (p.Ala2534Thr) c.8320G>A (p.Ala2774Thr) c.8818G>A (p.Ala2940Thr) c.6415G>A (p.Ala2139Thr) | |
2 | g.237336280C>A | CA431701427 | COL6A3 | c.1465G>T c.8202G>T (p.Thr2734=) c.947G>T n.1087G>T c.8820G>T (p.Thr2940=) c.6996G>T (p.Thr2332=) c.6999G>T (p.Thr2333=) n.5262G>T c.8220G>T (p.Thr2740=) c.7599G>T (p.Thr2533=) c.8319G>T (p.Thr2773=) c.8817G>T (p.Thr2939=) c.6414G>T (p.Thr2138=) | |
2 | g.237336280C= | CA1337607115 | COL6A3 | c.1465G= c.8202G= (p.Thr2734=) c.947G= n.1087G= c.8820G= (p.Thr2940=) c.6996G= (p.Thr2332=) c.6999G= (p.Thr2333=) n.5262G= c.8220G= (p.Thr2740=) c.7599G= (p.Thr2533=) c.8319G= (p.Thr2773=) c.8817G= (p.Thr2939=) c.6414G= (p.Thr2138=) | |
2 | g.237336280C>G | CA67830523 | COL6A3 | c.1465G>C c.8202G>C (p.Thr2734=) c.947G>C n.1087G>C c.8820G>C (p.Thr2940=) c.6996G>C (p.Thr2332=) c.6999G>C (p.Thr2333=) n.5262G>C c.8220G>C (p.Thr2740=) c.7599G>C (p.Thr2533=) c.8319G>C (p.Thr2773=) c.8817G>C (p.Thr2939=) c.6414G>C (p.Thr2138=) | dbSNP |
2 | g.237336280C>T | CA148072 | COL6A3 | c.1465G>A c.8202G>A (p.Thr2734=) c.947G>A n.1087G>A c.8820G>A (p.Thr2940=) c.6996G>A (p.Thr2332=) c.6999G>A (p.Thr2333=) n.5262G>A c.8220G>A (p.Thr2740=) c.7599G>A (p.Thr2533=) c.8319G>A (p.Thr2773=) c.8817G>A (p.Thr2939=) c.6414G>A (p.Thr2138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336281G>A | CA245531 | COL6A3 | c.1464C>T c.8201C>T (p.Thr2734Met) c.946C>T n.1086C>T c.8819C>T (p.Thr2940Met) c.6995C>T (p.Thr2332Met) c.6998C>T (p.Thr2333Met) n.5261C>T c.8219C>T (p.Thr2740Met) c.7598C>T (p.Thr2533Met) c.8318C>T (p.Thr2773Met) c.8816C>T (p.Thr2939Met) c.6413C>T (p.Thr2138Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336281G>C | CA351191388 | COL6A3 | c.1464C>G c.8201C>G (p.Thr2734Arg) c.946C>G n.1086C>G c.8819C>G (p.Thr2940Arg) c.6995C>G (p.Thr2332Arg) c.6998C>G (p.Thr2333Arg) n.5261C>G c.8219C>G (p.Thr2740Arg) c.7598C>G (p.Thr2533Arg) c.8318C>G (p.Thr2773Arg) c.8816C>G (p.Thr2939Arg) c.6413C>G (p.Thr2138Arg) | |
2 | g.237336281G= | CA1337607116 | COL6A3 | c.1464C= c.8201C= (p.Thr2734=) c.946C= n.1086C= c.8819C= (p.Thr2940=) c.6995C= (p.Thr2332=) c.6998C= (p.Thr2333=) n.5261C= c.8219C= (p.Thr2740=) c.7598C= (p.Thr2533=) c.8318C= (p.Thr2773=) c.8816C= (p.Thr2939=) c.6413C= (p.Thr2138=) | |
2 | g.237336281G>T | CA351191389 | COL6A3 | c.1464C>A c.8201C>A (p.Thr2734Lys) c.946C>A n.1086C>A c.8819C>A (p.Thr2940Lys) c.6995C>A (p.Thr2332Lys) c.6998C>A (p.Thr2333Lys) n.5261C>A c.8219C>A (p.Thr2740Lys) c.7598C>A (p.Thr2533Lys) c.8318C>A (p.Thr2773Lys) c.8816C>A (p.Thr2939Lys) c.6413C>A (p.Thr2138Lys) | dbSNP |
2 | g.237336282T>A | CA351191393 | COL6A3 | c.1463A>T c.8200A>T (p.Thr2734Ser) c.945A>T n.1085A>T c.8818A>T (p.Thr2940Ser) c.6994A>T (p.Thr2332Ser) c.6997A>T (p.Thr2333Ser) n.5260A>T c.8218A>T (p.Thr2740Ser) c.7597A>T (p.Thr2533Ser) c.8317A>T (p.Thr2773Ser) c.8815A>T (p.Thr2939Ser) c.6412A>T (p.Thr2138Ser) | |
2 | g.237336282T>C | CA351191395 | COL6A3 | c.1463A>G c.8200A>G (p.Thr2734Ala) c.945A>G n.1085A>G c.8818A>G (p.Thr2940Ala) c.6994A>G (p.Thr2332Ala) c.6997A>G (p.Thr2333Ala) n.5260A>G c.8218A>G (p.Thr2740Ala) c.7597A>G (p.Thr2533Ala) c.8317A>G (p.Thr2773Ala) c.8815A>G (p.Thr2939Ala) c.6412A>G (p.Thr2138Ala) | |
2 | g.237336282T>G | CA351191397 | COL6A3 | c.1463A>C c.8200A>C (p.Thr2734Pro) c.945A>C n.1085A>C c.8818A>C (p.Thr2940Pro) c.6994A>C (p.Thr2332Pro) c.6997A>C (p.Thr2333Pro) n.5260A>C c.8218A>C (p.Thr2740Pro) c.7597A>C (p.Thr2533Pro) c.8317A>C (p.Thr2773Pro) c.8815A>C (p.Thr2939Pro) c.6412A>C (p.Thr2138Pro) | |
2 | g.237336283del | CA2663792158 | COL6A3 | c.1463del c.8200del (p.Thr2734ArgfsTer6) c.945del n.1085del c.8818del (p.Thr2940ArgfsTer6) c.6994del (p.Thr2332ArgfsTer6) c.6997del (p.Thr2333ArgfsTer6) n.5260del c.8218del (p.Thr2740ArgfsTer6) c.7597del (p.Thr2533ArgfsTer6) c.8317del (p.Thr2773ArgfsTer6) c.8815del (p.Thr2939ArgfsTer6) c.6412del (p.Thr2138ArgfsTer6) | gnomAD v4 |
2 | g.237336283T>A | CA431701450 | COL6A3 | c.1462A>T c.8199A>T (p.Ala2733=) c.944A>T n.1084A>T c.8817A>T (p.Ala2939=) c.6993A>T (p.Ala2331=) c.6996A>T (p.Ala2332=) n.5259A>T c.8217A>T (p.Ala2739=) c.7596A>T (p.Ala2532=) c.8316A>T (p.Ala2772=) c.8814A>T (p.Ala2938=) c.6411A>T (p.Ala2137=) | |
2 | g.237336283T>C | CA431701448 | COL6A3 | c.1462A>G c.8199A>G (p.Ala2733=) c.944A>G n.1084A>G c.8817A>G (p.Ala2939=) c.6993A>G (p.Ala2331=) c.6996A>G (p.Ala2332=) n.5259A>G c.8217A>G (p.Ala2739=) c.7596A>G (p.Ala2532=) c.8316A>G (p.Ala2772=) c.8814A>G (p.Ala2938=) c.6411A>G (p.Ala2137=) | |
2 | g.237336283T>G | CA431701449 | COL6A3 | c.1462A>C c.8199A>C (p.Ala2733=) c.944A>C n.1084A>C c.8817A>C (p.Ala2939=) c.6993A>C (p.Ala2331=) c.6996A>C (p.Ala2332=) n.5259A>C c.8217A>C (p.Ala2739=) c.7596A>C (p.Ala2532=) c.8316A>C (p.Ala2772=) c.8814A>C (p.Ala2938=) c.6411A>C (p.Ala2137=) | |
2 | g.237336284G>A | CA351191400 | COL6A3 | c.1461C>T c.8198C>T (p.Ala2733Val) c.943C>T n.1083C>T c.8816C>T (p.Ala2939Val) c.6992C>T (p.Ala2331Val) c.6995C>T (p.Ala2332Val) n.5258C>T c.8216C>T (p.Ala2739Val) c.7595C>T (p.Ala2532Val) c.8315C>T (p.Ala2772Val) c.8813C>T (p.Ala2938Val) c.6410C>T (p.Ala2137Val) | |
2 | g.237336284G>C | CA351191402 | COL6A3 | c.1461C>G c.8198C>G (p.Ala2733Gly) c.943C>G n.1083C>G c.8816C>G (p.Ala2939Gly) c.6992C>G (p.Ala2331Gly) c.6995C>G (p.Ala2332Gly) n.5258C>G c.8216C>G (p.Ala2739Gly) c.7595C>G (p.Ala2532Gly) c.8315C>G (p.Ala2772Gly) c.8813C>G (p.Ala2938Gly) c.6410C>G (p.Ala2137Gly) | |
2 | g.237336284G>T | CA351191404 | COL6A3 | c.1461C>A c.8198C>A (p.Ala2733Glu) c.943C>A n.1083C>A c.8816C>A (p.Ala2939Glu) c.6992C>A (p.Ala2331Glu) c.6995C>A (p.Ala2332Glu) n.5258C>A c.8216C>A (p.Ala2739Glu) c.7595C>A (p.Ala2532Glu) c.8315C>A (p.Ala2772Glu) c.8813C>A (p.Ala2938Glu) c.6410C>A (p.Ala2137Glu) | |
2 | g.237336285C>A | CA351191411 | COL6A3 | c.1460G>T c.8197G>T (p.Ala2733Ser) c.942G>T n.1082G>T c.8815G>T (p.Ala2939Ser) c.6991G>T (p.Ala2331Ser) c.6994G>T (p.Ala2332Ser) n.5257G>T c.8215G>T (p.Ala2739Ser) c.7594G>T (p.Ala2532Ser) c.8314G>T (p.Ala2772Ser) c.8812G>T (p.Ala2938Ser) c.6409G>T (p.Ala2137Ser) | |
2 | g.237336285C>G | CA351191407 | COL6A3 | c.1460G>C c.8197G>C (p.Ala2733Pro) c.942G>C n.1082G>C c.8815G>C (p.Ala2939Pro) c.6991G>C (p.Ala2331Pro) c.6994G>C (p.Ala2332Pro) n.5257G>C c.8215G>C (p.Ala2739Pro) c.7594G>C (p.Ala2532Pro) c.8314G>C (p.Ala2772Pro) c.8812G>C (p.Ala2938Pro) c.6409G>C (p.Ala2137Pro) | |
2 | g.237336285C>T | CA351191409 | COL6A3 | c.1460G>A c.8197G>A (p.Ala2733Thr) c.942G>A n.1082G>A c.8815G>A (p.Ala2939Thr) c.6991G>A (p.Ala2331Thr) c.6994G>A (p.Ala2332Thr) n.5257G>A c.8215G>A (p.Ala2739Thr) c.7594G>A (p.Ala2532Thr) c.8314G>A (p.Ala2772Thr) c.8812G>A (p.Ala2938Thr) c.6409G>A (p.Ala2137Thr) | |
2 | g.237336286T>A | CA431701469 | COL6A3 | c.1459A>T c.8196A>T (p.Pro2732=) c.941A>T n.1081A>T c.8814A>T (p.Pro2938=) c.6990A>T (p.Pro2330=) c.6993A>T (p.Pro2331=) n.5256A>T c.8214A>T (p.Pro2738=) c.7593A>T (p.Pro2531=) c.8313A>T (p.Pro2771=) c.8811A>T (p.Pro2937=) c.6408A>T (p.Pro2136=) | |
2 | g.237336286T>C | CA431701473 | COL6A3 | c.1459A>G c.8196A>G (p.Pro2732=) c.941A>G n.1081A>G c.8814A>G (p.Pro2938=) c.6990A>G (p.Pro2330=) c.6993A>G (p.Pro2331=) n.5256A>G c.8214A>G (p.Pro2738=) c.7593A>G (p.Pro2531=) c.8313A>G (p.Pro2771=) c.8811A>G (p.Pro2937=) c.6408A>G (p.Pro2136=) | dbSNP |
2 | g.237336286T>G | CA431701478 | COL6A3 | c.1459A>C c.8196A>C (p.Pro2732=) c.941A>C n.1081A>C c.8814A>C (p.Pro2938=) c.6990A>C (p.Pro2330=) c.6993A>C (p.Pro2331=) n.5256A>C c.8214A>C (p.Pro2738=) c.7593A>C (p.Pro2531=) c.8313A>C (p.Pro2771=) c.8811A>C (p.Pro2937=) c.6408A>C (p.Pro2136=) | |
2 | g.237336286T= | CA1337607117 | COL6A3 | c.1459A= c.8196A= (p.Pro2732=) c.941A= n.1081A= c.8814A= (p.Pro2938=) c.6990A= (p.Pro2330=) c.6993A= (p.Pro2331=) n.5256A= c.8214A= (p.Pro2738=) c.7593A= (p.Pro2531=) c.8313A= (p.Pro2771=) c.8811A= (p.Pro2937=) c.6408A= (p.Pro2136=) | |
2 | g.237336287G>A | CA351191414 | COL6A3 | c.1458C>T c.8195C>T (p.Pro2732Leu) c.940C>T n.1080C>T c.8813C>T (p.Pro2938Leu) c.6989C>T (p.Pro2330Leu) c.6992C>T (p.Pro2331Leu) n.5255C>T c.8213C>T (p.Pro2738Leu) c.7592C>T (p.Pro2531Leu) c.8312C>T (p.Pro2771Leu) c.8810C>T (p.Pro2937Leu) c.6407C>T (p.Pro2136Leu) | |
2 | g.237336287G>C | CA351191416 | COL6A3 | c.1458C>G c.8195C>G (p.Pro2732Arg) c.940C>G n.1080C>G c.8813C>G (p.Pro2938Arg) c.6989C>G (p.Pro2330Arg) c.6992C>G (p.Pro2331Arg) n.5255C>G c.8213C>G (p.Pro2738Arg) c.7592C>G (p.Pro2531Arg) c.8312C>G (p.Pro2771Arg) c.8810C>G (p.Pro2937Arg) c.6407C>G (p.Pro2136Arg) | |
2 | g.237336287G>T | CA351191418 | COL6A3 | c.1458C>A c.8195C>A (p.Pro2732Gln) c.940C>A n.1080C>A c.8813C>A (p.Pro2938Gln) c.6989C>A (p.Pro2330Gln) c.6992C>A (p.Pro2331Gln) n.5255C>A c.8213C>A (p.Pro2738Gln) c.7592C>A (p.Pro2531Gln) c.8312C>A (p.Pro2771Gln) c.8810C>A (p.Pro2937Gln) c.6407C>A (p.Pro2136Gln) | |
2 | g.237336288G>A | CA351191421 | COL6A3 | c.1457C>T c.8194C>T (p.Pro2732Ser) c.939C>T n.1079C>T c.8812C>T (p.Pro2938Ser) c.6988C>T (p.Pro2330Ser) c.6991C>T (p.Pro2331Ser) n.5254C>T c.8212C>T (p.Pro2738Ser) c.7591C>T (p.Pro2531Ser) c.8311C>T (p.Pro2771Ser) c.8809C>T (p.Pro2937Ser) c.6406C>T (p.Pro2136Ser) | |
2 | g.237336288G>C | CA351191423 | COL6A3 | c.1457C>G c.8194C>G (p.Pro2732Ala) c.939C>G n.1079C>G c.8812C>G (p.Pro2938Ala) c.6988C>G (p.Pro2330Ala) c.6991C>G (p.Pro2331Ala) n.5254C>G c.8212C>G (p.Pro2738Ala) c.7591C>G (p.Pro2531Ala) c.8311C>G (p.Pro2771Ala) c.8809C>G (p.Pro2937Ala) c.6406C>G (p.Pro2136Ala) | |
2 | g.237336288G>T | CA351191425 | COL6A3 | c.1457C>A c.8194C>A (p.Pro2732Thr) c.939C>A n.1079C>A c.8812C>A (p.Pro2938Thr) c.6988C>A (p.Pro2330Thr) c.6991C>A (p.Pro2331Thr) n.5254C>A c.8212C>A (p.Pro2738Thr) c.7591C>A (p.Pro2531Thr) c.8311C>A (p.Pro2771Thr) c.8809C>A (p.Pro2937Thr) c.6406C>A (p.Pro2136Thr) | |
2 | g.237336289C>A | CA351191428 | COL6A3 | c.1456G>T c.8193G>T (p.Lys2731Asn) c.938G>T n.1078G>T c.8811G>T (p.Lys2937Asn) c.6987G>T (p.Lys2329Asn) c.6990G>T (p.Lys2330Asn) n.5253G>T c.8211G>T (p.Lys2737Asn) c.7590G>T (p.Lys2530Asn) c.8310G>T (p.Lys2770Asn) c.8808G>T (p.Lys2936Asn) c.6405G>T (p.Lys2135Asn) | |
2 | g.237336289C>G | CA351191429 | COL6A3 | c.1456G>C c.8193G>C (p.Lys2731Asn) c.938G>C n.1078G>C c.8811G>C (p.Lys2937Asn) c.6987G>C (p.Lys2329Asn) c.6990G>C (p.Lys2330Asn) n.5253G>C c.8211G>C (p.Lys2737Asn) c.7590G>C (p.Lys2530Asn) c.8310G>C (p.Lys2770Asn) c.8808G>C (p.Lys2936Asn) c.6405G>C (p.Lys2135Asn) | |
2 | g.237336289C>T | CA431701509 | COL6A3 | c.1456G>A c.8193G>A (p.Lys2731=) c.938G>A n.1078G>A c.8811G>A (p.Lys2937=) c.6987G>A (p.Lys2329=) c.6990G>A (p.Lys2330=) n.5253G>A c.8211G>A (p.Lys2737=) c.7590G>A (p.Lys2530=) c.8310G>A (p.Lys2770=) c.8808G>A (p.Lys2936=) c.6405G>A (p.Lys2135=) | |
2 | g.237336290T>A | CA351191432 | COL6A3 | c.1455A>T c.8192A>T (p.Lys2731Met) c.937A>T n.1077A>T c.8810A>T (p.Lys2937Met) c.6986A>T (p.Lys2329Met) c.6989A>T (p.Lys2330Met) n.5252A>T c.8210A>T (p.Lys2737Met) c.7589A>T (p.Lys2530Met) c.8309A>T (p.Lys2770Met) c.8807A>T (p.Lys2936Met) c.6404A>T (p.Lys2135Met) | |
2 | g.237336290T>C | CA2187438 | COL6A3 | c.1455A>G c.8192A>G (p.Lys2731Arg) c.937A>G n.1077A>G c.8810A>G (p.Lys2937Arg) c.6986A>G (p.Lys2329Arg) c.6989A>G (p.Lys2330Arg) n.5252A>G c.8210A>G (p.Lys2737Arg) c.7589A>G (p.Lys2530Arg) c.8309A>G (p.Lys2770Arg) c.8807A>G (p.Lys2936Arg) c.6404A>G (p.Lys2135Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336290T>G | CA351191436 | COL6A3 | c.1455A>C c.8192A>C (p.Lys2731Thr) c.937A>C n.1077A>C c.8810A>C (p.Lys2937Thr) c.6986A>C (p.Lys2329Thr) c.6989A>C (p.Lys2330Thr) n.5252A>C c.8210A>C (p.Lys2737Thr) c.7589A>C (p.Lys2530Thr) c.8309A>C (p.Lys2770Thr) c.8807A>C (p.Lys2936Thr) c.6404A>C (p.Lys2135Thr) | |
2 | g.237336290T= | CA1337607118 | COL6A3 | c.1455A= c.8192A= (p.Lys2731=) c.937A= n.1077A= c.8810A= (p.Lys2937=) c.6986A= (p.Lys2329=) c.6989A= (p.Lys2330=) n.5252A= c.8210A= (p.Lys2737=) c.7589A= (p.Lys2530=) c.8309A= (p.Lys2770=) c.8807A= (p.Lys2936=) c.6404A= (p.Lys2135=) | |
2 | g.237336291T>A | CA351191444 | COL6A3 | c.1454A>T c.8191A>T (p.Lys2731Ter) c.936A>T n.1076A>T c.8809A>T (p.Lys2937Ter) c.6985A>T (p.Lys2329Ter) c.6988A>T (p.Lys2330Ter) n.5251A>T c.8209A>T (p.Lys2737Ter) c.7588A>T (p.Lys2530Ter) c.8308A>T (p.Lys2770Ter) c.8806A>T (p.Lys2936Ter) c.6403A>T (p.Lys2135Ter) | |
2 | g.237336291T>C | CA351191442 | COL6A3 | c.1454A>G c.8191A>G (p.Lys2731Glu) c.936A>G n.1076A>G c.8809A>G (p.Lys2937Glu) c.6985A>G (p.Lys2329Glu) c.6988A>G (p.Lys2330Glu) n.5251A>G c.8209A>G (p.Lys2737Glu) c.7588A>G (p.Lys2530Glu) c.8308A>G (p.Lys2770Glu) c.8806A>G (p.Lys2936Glu) c.6403A>G (p.Lys2135Glu) | |
2 | g.237336291T>G | CA351191439 | COL6A3 | c.1454A>C c.8191A>C (p.Lys2731Gln) c.936A>C n.1076A>C c.8809A>C (p.Lys2937Gln) c.6985A>C (p.Lys2329Gln) c.6988A>C (p.Lys2330Gln) n.5251A>C c.8209A>C (p.Lys2737Gln) c.7588A>C (p.Lys2530Gln) c.8308A>C (p.Lys2770Gln) c.8806A>C (p.Lys2936Gln) c.6403A>C (p.Lys2135Gln) | |
2 | g.237336291_237336297delinsTCACCGC | CA1337607119 | COL6A3 | c.1448_1454delinsGCGGTGA c.8185_8191delinsGCGGTGA (p.Ala2729=) c.930_936delinsGCGGTGA n.1070_1076delinsGCGGTGA c.8803_8809delinsGCGGTGA (p.Ala2935=) c.6979_6985delinsGCGGTGA (p.Ala2327=) c.6982_6988delinsGCGGTGA (p.Ala2328=) n.5245_5251delinsGCGGTGA c.8203_8209delinsGCGGTGA (p.Ala2735=) c.7582_7588delinsGCGGTGA (p.Ala2528=) c.8302_8308delinsGCGGTGA (p.Ala2768=) c.8800_8806delinsGCGGTGA (p.Ala2934=) c.6397_6403delinsGCGGTGA (p.Ala2133=) | |
2 | g.237336292C>A | CA431701535 | COL6A3 | c.1453G>T c.8190G>T (p.Val2730=) c.935G>T n.1075G>T c.8808G>T (p.Val2936=) c.6984G>T (p.Val2328=) c.6987G>T (p.Val2329=) n.5250G>T c.8208G>T (p.Val2736=) c.7587G>T (p.Val2529=) c.8307G>T (p.Val2769=) c.8805G>T (p.Val2935=) c.6402G>T (p.Val2134=) | COSMIC |
2 | g.237336292C= | CA1337607120 | COL6A3 | c.1453G= c.8190G= (p.Val2730=) c.935G= n.1075G= c.8808G= (p.Val2936=) c.6984G= (p.Val2328=) c.6987G= (p.Val2329=) n.5250G= c.8208G= (p.Val2736=) c.7587G= (p.Val2529=) c.8307G= (p.Val2769=) c.8805G= (p.Val2935=) c.6402G= (p.Val2134=) | |
2 | g.237336292C>G | CA431701538 | COL6A3 | c.1453G>C c.8190G>C (p.Val2730=) c.935G>C n.1075G>C c.8808G>C (p.Val2936=) c.6984G>C (p.Val2328=) c.6987G>C (p.Val2329=) n.5250G>C c.8208G>C (p.Val2736=) c.7587G>C (p.Val2529=) c.8307G>C (p.Val2769=) c.8805G>C (p.Val2935=) c.6402G>C (p.Val2134=) | |
2 | g.237336292C>T | CA2187439 | COL6A3 | c.1453G>A c.8190G>A (p.Val2730=) c.935G>A n.1075G>A c.8808G>A (p.Val2936=) c.6984G>A (p.Val2328=) c.6987G>A (p.Val2329=) n.5250G>A c.8208G>A (p.Val2736=) c.7587G>A (p.Val2529=) c.8307G>A (p.Val2769=) c.8805G>A (p.Val2935=) c.6402G>A (p.Val2134=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336295_237336300del | CA540749774 | COL6A3 | c.1448_1453del c.8185_8190del (p.Ala2729_Val2730del) c.930_935del n.1070_1075del c.8803_8808del (p.Ala2935_Val2936del) c.6979_6984del (p.Ala2327_Val2328del) c.6982_6987del (p.Ala2328_Val2329del) n.5245_5250del c.8203_8208del (p.Ala2735_Val2736del) c.7582_7587del (p.Ala2528_Val2529del) c.8302_8307del (p.Ala2768_Val2769del) c.8800_8805del (p.Ala2934_Val2935del) c.6397_6402del (p.Ala2133_Val2134del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336293A= | CA1337607121 | COL6A3 | c.1452T= c.8189T= (p.Val2730=) c.934T= n.1074T= c.8807T= (p.Val2936=) c.6983T= (p.Val2328=) c.6986T= (p.Val2329=) n.5249T= c.8207T= (p.Val2736=) c.7586T= (p.Val2529=) c.8306T= (p.Val2769=) c.8804T= (p.Val2935=) c.6401T= (p.Val2134=) | |
2 | g.237336293A>C | CA351191449 | COL6A3 | c.1452T>G c.8189T>G (p.Val2730Gly) c.934T>G n.1074T>G c.8807T>G (p.Val2936Gly) c.6983T>G (p.Val2328Gly) c.6986T>G (p.Val2329Gly) n.5249T>G c.8207T>G (p.Val2736Gly) c.7586T>G (p.Val2529Gly) c.8306T>G (p.Val2769Gly) c.8804T>G (p.Val2935Gly) c.6401T>G (p.Val2134Gly) | |
2 | g.237336293A>G | CA351191451 | COL6A3 | c.1452T>C c.8189T>C (p.Val2730Ala) c.934T>C n.1074T>C c.8807T>C (p.Val2936Ala) c.6983T>C (p.Val2328Ala) c.6986T>C (p.Val2329Ala) n.5249T>C c.8207T>C (p.Val2736Ala) c.7586T>C (p.Val2529Ala) c.8306T>C (p.Val2769Ala) c.8804T>C (p.Val2935Ala) c.6401T>C (p.Val2134Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336293A>T | CA351191475 | COL6A3 | c.1452T>A c.8189T>A (p.Val2730Glu) c.934T>A n.1074T>A c.8807T>A (p.Val2936Glu) c.6983T>A (p.Val2328Glu) c.6986T>A (p.Val2329Glu) n.5249T>A c.8207T>A (p.Val2736Glu) c.7586T>A (p.Val2529Glu) c.8306T>A (p.Val2769Glu) c.8804T>A (p.Val2935Glu) c.6401T>A (p.Val2134Glu) | |
2 | g.237336294C>A | CA351191479 | COL6A3 | c.1451G>T c.8188G>T (p.Val2730Leu) c.933G>T n.1073G>T c.8806G>T (p.Val2936Leu) c.6982G>T (p.Val2328Leu) c.6985G>T (p.Val2329Leu) n.5248G>T c.8206G>T (p.Val2736Leu) c.7585G>T (p.Val2529Leu) c.8305G>T (p.Val2769Leu) c.8803G>T (p.Val2935Leu) c.6400G>T (p.Val2134Leu) | |
2 | g.237336294C>G | CA351191481 | COL6A3 | c.1451G>C c.8188G>C (p.Val2730Leu) c.933G>C n.1073G>C c.8806G>C (p.Val2936Leu) c.6982G>C (p.Val2328Leu) c.6985G>C (p.Val2329Leu) n.5248G>C c.8206G>C (p.Val2736Leu) c.7585G>C (p.Val2529Leu) c.8305G>C (p.Val2769Leu) c.8803G>C (p.Val2935Leu) c.6400G>C (p.Val2134Leu) | |
2 | g.237336294C>T | CA351191483 | COL6A3 | c.1451G>A c.8188G>A (p.Val2730Met) c.933G>A n.1073G>A c.8806G>A (p.Val2936Met) c.6982G>A (p.Val2328Met) c.6985G>A (p.Val2329Met) n.5248G>A c.8206G>A (p.Val2736Met) c.7585G>A (p.Val2529Met) c.8305G>A (p.Val2769Met) c.8803G>A (p.Val2935Met) c.6400G>A (p.Val2134Met) | gnomAD v4 |
2 | g.237336295C>A | CA431701561 | COL6A3 | c.1450G>T c.8187G>T (p.Ala2729=) c.932G>T n.1072G>T c.8805G>T (p.Ala2935=) c.6981G>T (p.Ala2327=) c.6984G>T (p.Ala2328=) n.5247G>T c.8205G>T (p.Ala2735=) c.7584G>T (p.Ala2528=) c.8304G>T (p.Ala2768=) c.8802G>T (p.Ala2934=) c.6399G>T (p.Ala2133=) | |
2 | g.237336295C= | CA1337607122 | COL6A3 | c.1450G= c.8187G= (p.Ala2729=) c.932G= n.1072G= c.8805G= (p.Ala2935=) c.6981G= (p.Ala2327=) c.6984G= (p.Ala2328=) n.5247G= c.8205G= (p.Ala2735=) c.7584G= (p.Ala2528=) c.8304G= (p.Ala2768=) c.8802G= (p.Ala2934=) c.6399G= (p.Ala2133=) | |
2 | g.237336295C>G | CA431701557 | COL6A3 | c.1450G>C c.8187G>C (p.Ala2729=) c.932G>C n.1072G>C c.8805G>C (p.Ala2935=) c.6981G>C (p.Ala2327=) c.6984G>C (p.Ala2328=) n.5247G>C c.8205G>C (p.Ala2735=) c.7584G>C (p.Ala2528=) c.8304G>C (p.Ala2768=) c.8802G>C (p.Ala2934=) c.6399G>C (p.Ala2133=) | |
2 | g.237336295C>T | CA2187440 | COL6A3 | c.1450G>A c.8187G>A (p.Ala2729=) c.932G>A n.1072G>A c.8805G>A (p.Ala2935=) c.6981G>A (p.Ala2327=) c.6984G>A (p.Ala2328=) n.5247G>A c.8205G>A (p.Ala2735=) c.7584G>A (p.Ala2528=) c.8304G>A (p.Ala2768=) c.8802G>A (p.Ala2934=) c.6399G>A (p.Ala2133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237336296G>A | CA2187441 | COL6A3 | c.1449C>T c.8186C>T (p.Ala2729Val) c.931C>T n.1071C>T c.8804C>T (p.Ala2935Val) c.6980C>T (p.Ala2327Val) c.6983C>T (p.Ala2328Val) n.5246C>T c.8204C>T (p.Ala2735Val) c.7583C>T (p.Ala2528Val) c.8303C>T (p.Ala2768Val) c.8801C>T (p.Ala2934Val) c.6398C>T (p.Ala2133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336296G>C | CA351191489 | COL6A3 | c.1449C>G c.8186C>G (p.Ala2729Gly) c.931C>G n.1071C>G c.8804C>G (p.Ala2935Gly) c.6980C>G (p.Ala2327Gly) c.6983C>G (p.Ala2328Gly) n.5246C>G c.8204C>G (p.Ala2735Gly) c.7583C>G (p.Ala2528Gly) c.8303C>G (p.Ala2768Gly) c.8801C>G (p.Ala2934Gly) c.6398C>G (p.Ala2133Gly) | |
2 | g.237336296G= | CA1337607123 | COL6A3 | c.1449C= c.8186C= (p.Ala2729=) c.931C= n.1071C= c.8804C= (p.Ala2935=) c.6980C= (p.Ala2327=) c.6983C= (p.Ala2328=) n.5246C= c.8204C= (p.Ala2735=) c.7583C= (p.Ala2528=) c.8303C= (p.Ala2768=) c.8801C= (p.Ala2934=) c.6398C= (p.Ala2133=) | |
2 | g.237336296G>T | CA2187442 | COL6A3 | c.1449C>A c.8186C>A (p.Ala2729Glu) c.931C>A n.1071C>A c.8804C>A (p.Ala2935Glu) c.6980C>A (p.Ala2327Glu) c.6983C>A (p.Ala2328Glu) n.5246C>A c.8204C>A (p.Ala2735Glu) c.7583C>A (p.Ala2528Glu) c.8303C>A (p.Ala2768Glu) c.8801C>A (p.Ala2934Glu) c.6398C>A (p.Ala2133Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336297C>A | CA351191493 | COL6A3 | c.1448G>T c.8185G>T (p.Ala2729Ser) c.930G>T n.1070G>T c.8803G>T (p.Ala2935Ser) c.6979G>T (p.Ala2327Ser) c.6982G>T (p.Ala2328Ser) n.5245G>T c.8203G>T (p.Ala2735Ser) c.7582G>T (p.Ala2528Ser) c.8302G>T (p.Ala2768Ser) c.8800G>T (p.Ala2934Ser) c.6397G>T (p.Ala2133Ser) | |
2 | g.237336297C>G | CA351191495 | COL6A3 | c.1448G>C c.8185G>C (p.Ala2729Pro) c.930G>C n.1070G>C c.8803G>C (p.Ala2935Pro) c.6979G>C (p.Ala2327Pro) c.6982G>C (p.Ala2328Pro) n.5245G>C c.8203G>C (p.Ala2735Pro) c.7582G>C (p.Ala2528Pro) c.8302G>C (p.Ala2768Pro) c.8800G>C (p.Ala2934Pro) c.6397G>C (p.Ala2133Pro) | |
2 | g.237336297C>T | CA351191505 | COL6A3 | c.1448G>A c.8185G>A (p.Ala2729Thr) c.930G>A n.1070G>A c.8803G>A (p.Ala2935Thr) c.6979G>A (p.Ala2327Thr) c.6982G>A (p.Ala2328Thr) n.5245G>A c.8203G>A (p.Ala2735Thr) c.7582G>A (p.Ala2528Thr) c.8302G>A (p.Ala2768Thr) c.8800G>A (p.Ala2934Thr) c.6397G>A (p.Ala2133Thr) | gnomAD v4 |
2 | g.237336298C>A | CA431701590 | COL6A3 | c.1447G>T c.8184G>T (p.Val2728=) c.929G>T n.1069G>T c.8802G>T (p.Val2934=) c.6978G>T (p.Val2326=) c.6981G>T (p.Val2327=) n.5244G>T c.8202G>T (p.Val2734=) c.7581G>T (p.Val2527=) c.8301G>T (p.Val2767=) c.8799G>T (p.Val2933=) c.6396G>T (p.Val2132=) | |
2 | g.237336298C>G | CA431701593 | COL6A3 | c.1447G>C c.8184G>C (p.Val2728=) c.929G>C n.1069G>C c.8802G>C (p.Val2934=) c.6978G>C (p.Val2326=) c.6981G>C (p.Val2327=) n.5244G>C c.8202G>C (p.Val2734=) c.7581G>C (p.Val2527=) c.8301G>C (p.Val2767=) c.8799G>C (p.Val2933=) c.6396G>C (p.Val2132=) | |
2 | g.237336298C>T | CA431701596 | COL6A3 | c.1447G>A c.8184G>A (p.Val2728=) c.929G>A n.1069G>A c.8802G>A (p.Val2934=) c.6978G>A (p.Val2326=) c.6981G>A (p.Val2327=) n.5244G>A c.8202G>A (p.Val2734=) c.7581G>A (p.Val2527=) c.8301G>A (p.Val2767=) c.8799G>A (p.Val2933=) c.6396G>A (p.Val2132=) | |
2 | g.237336299A= | CA1337607124 | COL6A3 | c.1446T= c.8183T= (p.Val2728=) c.928T= n.1068T= c.8801T= (p.Val2934=) c.6977T= (p.Val2326=) c.6980T= (p.Val2327=) n.5243T= c.8201T= (p.Val2734=) c.7580T= (p.Val2527=) c.8300T= (p.Val2767=) c.8798T= (p.Val2933=) c.6395T= (p.Val2132=) | |
2 | g.237336299A>C | CA351191508 | COL6A3 | c.1446T>G c.8183T>G (p.Val2728Gly) c.928T>G n.1068T>G c.8801T>G (p.Val2934Gly) c.6977T>G (p.Val2326Gly) c.6980T>G (p.Val2327Gly) n.5243T>G c.8201T>G (p.Val2734Gly) c.7580T>G (p.Val2527Gly) c.8300T>G (p.Val2767Gly) c.8798T>G (p.Val2933Gly) c.6395T>G (p.Val2132Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336299A>G | CA351191512 | COL6A3 | c.1446T>C c.8183T>C (p.Val2728Ala) c.928T>C n.1068T>C c.8801T>C (p.Val2934Ala) c.6977T>C (p.Val2326Ala) c.6980T>C (p.Val2327Ala) n.5243T>C c.8201T>C (p.Val2734Ala) c.7580T>C (p.Val2527Ala) c.8300T>C (p.Val2767Ala) c.8798T>C (p.Val2933Ala) c.6395T>C (p.Val2132Ala) | |
2 | g.237336299A>T | CA351191511 | COL6A3 | c.1446T>A c.8183T>A (p.Val2728Glu) c.928T>A n.1068T>A c.8801T>A (p.Val2934Glu) c.6977T>A (p.Val2326Glu) c.6980T>A (p.Val2327Glu) n.5243T>A c.8201T>A (p.Val2734Glu) c.7580T>A (p.Val2527Glu) c.8300T>A (p.Val2767Glu) c.8798T>A (p.Val2933Glu) c.6395T>A (p.Val2132Glu) | gnomAD v4 |
2 | g.237336300C>A | CA351191513 | COL6A3 | c.1445G>T c.8182G>T (p.Val2728Leu) c.927G>T n.1067G>T c.8800G>T (p.Val2934Leu) c.6976G>T (p.Val2326Leu) c.6979G>T (p.Val2327Leu) n.5242G>T c.8200G>T (p.Val2734Leu) c.7579G>T (p.Val2527Leu) c.8299G>T (p.Val2767Leu) c.8797G>T (p.Val2933Leu) c.6394G>T (p.Val2132Leu) | |
2 | g.237336300C>G | CA351191514 | COL6A3 | c.1445G>C c.8182G>C (p.Val2728Leu) c.927G>C n.1067G>C c.8800G>C (p.Val2934Leu) c.6976G>C (p.Val2326Leu) c.6979G>C (p.Val2327Leu) n.5242G>C c.8200G>C (p.Val2734Leu) c.7579G>C (p.Val2527Leu) c.8299G>C (p.Val2767Leu) c.8797G>C (p.Val2933Leu) c.6394G>C (p.Val2132Leu) | |
2 | g.237336300C>T | CA351191516 | COL6A3 | c.1445G>A c.8182G>A (p.Val2728Met) c.927G>A n.1067G>A c.8800G>A (p.Val2934Met) c.6976G>A (p.Val2326Met) c.6979G>A (p.Val2327Met) n.5242G>A c.8200G>A (p.Val2734Met) c.7579G>A (p.Val2527Met) c.8299G>A (p.Val2767Met) c.8797G>A (p.Val2933Met) c.6394G>A (p.Val2132Met) | |
2 | g.237336301T>A | CA2187444 | COL6A3 | c.1444A>T c.8181A>T (p.Pro2727=) c.926A>T n.1066A>T c.8799A>T (p.Pro2933=) c.6975A>T (p.Pro2325=) c.6978A>T (p.Pro2326=) n.5241A>T c.8199A>T (p.Pro2733=) c.7578A>T (p.Pro2526=) c.8298A>T (p.Pro2766=) c.8796A>T (p.Pro2932=) c.6393A>T (p.Pro2131=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336301T>C | CA2187443 | COL6A3 | c.1444A>G c.8181A>G (p.Pro2727=) c.926A>G n.1066A>G c.8799A>G (p.Pro2933=) c.6975A>G (p.Pro2325=) c.6978A>G (p.Pro2326=) n.5241A>G c.8199A>G (p.Pro2733=) c.7578A>G (p.Pro2526=) c.8298A>G (p.Pro2766=) c.8796A>G (p.Pro2932=) c.6393A>G (p.Pro2131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336301T>G | CA431701617 | COL6A3 | c.1444A>C c.8181A>C (p.Pro2727=) c.926A>C n.1066A>C c.8799A>C (p.Pro2933=) c.6975A>C (p.Pro2325=) c.6978A>C (p.Pro2326=) n.5241A>C c.8199A>C (p.Pro2733=) c.7578A>C (p.Pro2526=) c.8298A>C (p.Pro2766=) c.8796A>C (p.Pro2932=) c.6393A>C (p.Pro2131=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336301T= | CA1337607125 | COL6A3 | c.1444A= c.8181A= (p.Pro2727=) c.926A= n.1066A= c.8799A= (p.Pro2933=) c.6975A= (p.Pro2325=) c.6978A= (p.Pro2326=) n.5241A= c.8199A= (p.Pro2733=) c.7578A= (p.Pro2526=) c.8298A= (p.Pro2766=) c.8796A= (p.Pro2932=) c.6393A= (p.Pro2131=) | |
2 | g.237336302G>A | CA2187445 | COL6A3 | c.1443C>T c.8180C>T (p.Pro2727Leu) c.925C>T n.1065C>T c.8798C>T (p.Pro2933Leu) c.6974C>T (p.Pro2325Leu) c.6977C>T (p.Pro2326Leu) n.5240C>T c.8198C>T (p.Pro2733Leu) c.7577C>T (p.Pro2526Leu) c.8297C>T (p.Pro2766Leu) c.8795C>T (p.Pro2932Leu) c.6392C>T (p.Pro2131Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336302G>C | CA351191523 | COL6A3 | c.1443C>G c.8180C>G (p.Pro2727Arg) c.925C>G n.1065C>G c.8798C>G (p.Pro2933Arg) c.6974C>G (p.Pro2325Arg) c.6977C>G (p.Pro2326Arg) n.5240C>G c.8198C>G (p.Pro2733Arg) c.7577C>G (p.Pro2526Arg) c.8297C>G (p.Pro2766Arg) c.8795C>G (p.Pro2932Arg) c.6392C>G (p.Pro2131Arg) | |
2 | g.237336302G= | CA1337607126 | COL6A3 | c.1443C= c.8180C= (p.Pro2727=) c.925C= n.1065C= c.8798C= (p.Pro2933=) c.6974C= (p.Pro2325=) c.6977C= (p.Pro2326=) n.5240C= c.8198C= (p.Pro2733=) c.7577C= (p.Pro2526=) c.8297C= (p.Pro2766=) c.8795C= (p.Pro2932=) c.6392C= (p.Pro2131=) | |
2 | g.237336302G>T | CA351191525 | COL6A3 | c.1443C>A c.8180C>A (p.Pro2727Gln) c.925C>A n.1065C>A c.8798C>A (p.Pro2933Gln) c.6974C>A (p.Pro2325Gln) c.6977C>A (p.Pro2326Gln) n.5240C>A c.8198C>A (p.Pro2733Gln) c.7577C>A (p.Pro2526Gln) c.8297C>A (p.Pro2766Gln) c.8795C>A (p.Pro2932Gln) c.6392C>A (p.Pro2131Gln) | ClinVar dbSNP |
2 | g.237336303G>A | CA351191530 | COL6A3 | c.1442C>T c.8179C>T (p.Pro2727Ser) c.924C>T n.1064C>T c.8797C>T (p.Pro2933Ser) c.6973C>T (p.Pro2325Ser) c.6976C>T (p.Pro2326Ser) n.5239C>T c.8197C>T (p.Pro2733Ser) c.7576C>T (p.Pro2526Ser) c.8296C>T (p.Pro2766Ser) c.8794C>T (p.Pro2932Ser) c.6391C>T (p.Pro2131Ser) | |
2 | g.237336303G>C | CA351191532 | COL6A3 | c.1442C>G c.8179C>G (p.Pro2727Ala) c.924C>G n.1064C>G c.8797C>G (p.Pro2933Ala) c.6973C>G (p.Pro2325Ala) c.6976C>G (p.Pro2326Ala) n.5239C>G c.8197C>G (p.Pro2733Ala) c.7576C>G (p.Pro2526Ala) c.8296C>G (p.Pro2766Ala) c.8794C>G (p.Pro2932Ala) c.6391C>G (p.Pro2131Ala) | COSMIC |
2 | g.237336303G>T | CA351191534 | COL6A3 | c.1442C>A c.8179C>A (p.Pro2727Thr) c.924C>A n.1064C>A c.8797C>A (p.Pro2933Thr) c.6973C>A (p.Pro2325Thr) c.6976C>A (p.Pro2326Thr) n.5239C>A c.8197C>A (p.Pro2733Thr) c.7576C>A (p.Pro2526Thr) c.8296C>A (p.Pro2766Thr) c.8794C>A (p.Pro2932Thr) c.6391C>A (p.Pro2131Thr) | |
2 | g.237336304G>A | CA431701640 | COL6A3 | c.1441C>T c.8178C>T (p.Pro2726=) c.923C>T n.1063C>T c.8796C>T (p.Pro2932=) c.6972C>T (p.Pro2324=) c.6975C>T (p.Pro2325=) n.5238C>T c.8196C>T (p.Pro2732=) c.7575C>T (p.Pro2525=) c.8295C>T (p.Pro2765=) c.8793C>T (p.Pro2931=) c.6390C>T (p.Pro2130=) | |
2 | g.237336304G>C | CA431701646 | COL6A3 | c.1441C>G c.8178C>G (p.Pro2726=) c.923C>G n.1063C>G c.8796C>G (p.Pro2932=) c.6972C>G (p.Pro2324=) c.6975C>G (p.Pro2325=) n.5238C>G c.8196C>G (p.Pro2732=) c.7575C>G (p.Pro2525=) c.8295C>G (p.Pro2765=) c.8793C>G (p.Pro2931=) c.6390C>G (p.Pro2130=) | dbSNP gnomAD v4 |
2 | g.237336304G= | CA1337607127 | COL6A3 | c.1441C= c.8178C= (p.Pro2726=) c.923C= n.1063C= c.8796C= (p.Pro2932=) c.6972C= (p.Pro2324=) c.6975C= (p.Pro2325=) n.5238C= c.8196C= (p.Pro2732=) c.7575C= (p.Pro2525=) c.8295C= (p.Pro2765=) c.8793C= (p.Pro2931=) c.6390C= (p.Pro2130=) | |
2 | g.237336304G>T | CA431701643 | COL6A3 | c.1441C>A c.8178C>A (p.Pro2726=) c.923C>A n.1063C>A c.8796C>A (p.Pro2932=) c.6972C>A (p.Pro2324=) c.6975C>A (p.Pro2325=) n.5238C>A c.8196C>A (p.Pro2732=) c.7575C>A (p.Pro2525=) c.8295C>A (p.Pro2765=) c.8793C>A (p.Pro2931=) c.6390C>A (p.Pro2130=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336305G>A | CA351191537 | COL6A3 | c.1440C>T c.8177C>T (p.Pro2726Leu) c.922C>T n.1062C>T c.8795C>T (p.Pro2932Leu) c.6971C>T (p.Pro2324Leu) c.6974C>T (p.Pro2325Leu) n.5237C>T c.8195C>T (p.Pro2732Leu) c.7574C>T (p.Pro2525Leu) c.8294C>T (p.Pro2765Leu) c.8792C>T (p.Pro2931Leu) c.6389C>T (p.Pro2130Leu) | |
2 | g.237336305G>C | CA351191536 | COL6A3 | c.1440C>G c.8177C>G (p.Pro2726Arg) c.922C>G n.1062C>G c.8795C>G (p.Pro2932Arg) c.6971C>G (p.Pro2324Arg) c.6974C>G (p.Pro2325Arg) n.5237C>G c.8195C>G (p.Pro2732Arg) c.7574C>G (p.Pro2525Arg) c.8294C>G (p.Pro2765Arg) c.8792C>G (p.Pro2931Arg) c.6389C>G (p.Pro2130Arg) | |
2 | g.237336305G>T | CA351191535 | COL6A3 | c.1440C>A c.8177C>A (p.Pro2726His) c.922C>A n.1062C>A c.8795C>A (p.Pro2932His) c.6971C>A (p.Pro2324His) c.6974C>A (p.Pro2325His) n.5237C>A c.8195C>A (p.Pro2732His) c.7574C>A (p.Pro2525His) c.8294C>A (p.Pro2765His) c.8792C>A (p.Pro2931His) c.6389C>A (p.Pro2130His) | |
2 | g.237336306G>A | CA67830560 | COL6A3 | c.1439C>T c.8176C>T (p.Pro2726Ser) c.921C>T n.1061C>T c.8794C>T (p.Pro2932Ser) c.6970C>T (p.Pro2324Ser) c.6973C>T (p.Pro2325Ser) n.5236C>T c.8194C>T (p.Pro2732Ser) c.7573C>T (p.Pro2525Ser) c.8293C>T (p.Pro2765Ser) c.8791C>T (p.Pro2931Ser) c.6388C>T (p.Pro2130Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336306G>C | CA351191540 | COL6A3 | c.1439C>G c.8176C>G (p.Pro2726Ala) c.921C>G n.1061C>G c.8794C>G (p.Pro2932Ala) c.6970C>G (p.Pro2324Ala) c.6973C>G (p.Pro2325Ala) n.5236C>G c.8194C>G (p.Pro2732Ala) c.7573C>G (p.Pro2525Ala) c.8293C>G (p.Pro2765Ala) c.8791C>G (p.Pro2931Ala) c.6388C>G (p.Pro2130Ala) | |
2 | g.237336306G= | CA1337607128 | COL6A3 | c.1439C= c.8176C= (p.Pro2726=) c.921C= n.1061C= c.8794C= (p.Pro2932=) c.6970C= (p.Pro2324=) c.6973C= (p.Pro2325=) n.5236C= c.8194C= (p.Pro2732=) c.7573C= (p.Pro2525=) c.8293C= (p.Pro2765=) c.8791C= (p.Pro2931=) c.6388C= (p.Pro2130=) | |
2 | g.237336306G>T | CA351191542 | COL6A3 | c.1439C>A c.8176C>A (p.Pro2726Thr) c.921C>A n.1061C>A c.8794C>A (p.Pro2932Thr) c.6970C>A (p.Pro2324Thr) c.6973C>A (p.Pro2325Thr) n.5236C>A c.8194C>A (p.Pro2732Thr) c.7573C>A (p.Pro2525Thr) c.8293C>A (p.Pro2765Thr) c.8791C>A (p.Pro2931Thr) c.6388C>A (p.Pro2130Thr) | gnomAD v4 |
2 | g.237336307T>A | CA351191545 | COL6A3 | c.1438A>T c.8175A>T (p.Arg2725Ser) c.920A>T n.1060A>T c.8793A>T (p.Arg2931Ser) c.6969A>T (p.Arg2323Ser) c.6972A>T (p.Arg2324Ser) n.5235A>T c.8193A>T (p.Arg2731Ser) c.7572A>T (p.Arg2524Ser) c.8292A>T (p.Arg2764Ser) c.8790A>T (p.Arg2930Ser) c.6387A>T (p.Arg2129Ser) | |
2 | g.237336307T>C | CA431701661 | COL6A3 | c.1438A>G c.8175A>G (p.Arg2725=) c.920A>G n.1060A>G c.8793A>G (p.Arg2931=) c.6969A>G (p.Arg2323=) c.6972A>G (p.Arg2324=) n.5235A>G c.8193A>G (p.Arg2731=) c.7572A>G (p.Arg2524=) c.8292A>G (p.Arg2764=) c.8790A>G (p.Arg2930=) c.6387A>G (p.Arg2129=) | |
2 | g.237336307T>G | CA351191547 | COL6A3 | c.1438A>C c.8175A>C (p.Arg2725Ser) c.920A>C n.1060A>C c.8793A>C (p.Arg2931Ser) c.6969A>C (p.Arg2323Ser) c.6972A>C (p.Arg2324Ser) n.5235A>C c.8193A>C (p.Arg2731Ser) c.7572A>C (p.Arg2524Ser) c.8292A>C (p.Arg2764Ser) c.8790A>C (p.Arg2930Ser) c.6387A>C (p.Arg2129Ser) | dbSNP |
2 | g.237336307T= | CA1337607129 | COL6A3 | c.1438A= c.8175A= (p.Arg2725=) c.920A= n.1060A= c.8793A= (p.Arg2931=) c.6969A= (p.Arg2323=) c.6972A= (p.Arg2324=) n.5235A= c.8193A= (p.Arg2731=) c.7572A= (p.Arg2524=) c.8292A= (p.Arg2764=) c.8790A= (p.Arg2930=) c.6387A= (p.Arg2129=) | |
2 | g.237336308C>A | CA351191551 | COL6A3 | c.1437G>T c.8174G>T (p.Arg2725Ile) c.919G>T n.1059G>T c.8792G>T (p.Arg2931Ile) c.6968G>T (p.Arg2323Ile) c.6971G>T (p.Arg2324Ile) n.5234G>T c.8192G>T (p.Arg2731Ile) c.7571G>T (p.Arg2524Ile) c.8291G>T (p.Arg2764Ile) c.8789G>T (p.Arg2930Ile) c.6386G>T (p.Arg2129Ile) | |
2 | g.237336308C>G | CA351191552 | COL6A3 | c.1437G>C c.8174G>C (p.Arg2725Thr) c.919G>C n.1059G>C c.8792G>C (p.Arg2931Thr) c.6968G>C (p.Arg2323Thr) c.6971G>C (p.Arg2324Thr) n.5234G>C c.8192G>C (p.Arg2731Thr) c.7571G>C (p.Arg2524Thr) c.8291G>C (p.Arg2764Thr) c.8789G>C (p.Arg2930Thr) c.6386G>C (p.Arg2129Thr) | |
2 | g.237336308C>T | CA351191555 | COL6A3 | c.1437G>A c.8174G>A (p.Arg2725Lys) c.919G>A n.1059G>A c.8792G>A (p.Arg2931Lys) c.6968G>A (p.Arg2323Lys) c.6971G>A (p.Arg2324Lys) n.5234G>A c.8192G>A (p.Arg2731Lys) c.7571G>A (p.Arg2524Lys) c.8291G>A (p.Arg2764Lys) c.8789G>A (p.Arg2930Lys) c.6386G>A (p.Arg2129Lys) | |
2 | g.237336309T>A | CA351191558 | COL6A3 | c.1436A>T c.8173A>T (p.Arg2725Ter) c.918A>T n.1058A>T c.8791A>T (p.Arg2931Ter) c.6967A>T (p.Arg2323Ter) c.6970A>T (p.Arg2324Ter) n.5233A>T c.8191A>T (p.Arg2731Ter) c.7570A>T (p.Arg2524Ter) c.8290A>T (p.Arg2764Ter) c.8788A>T (p.Arg2930Ter) c.6385A>T (p.Arg2129Ter) | |
2 | g.237336309T>C | CA351191560 | COL6A3 | c.1436A>G c.8173A>G (p.Arg2725Gly) c.918A>G n.1058A>G c.8791A>G (p.Arg2931Gly) c.6967A>G (p.Arg2323Gly) c.6970A>G (p.Arg2324Gly) n.5233A>G c.8191A>G (p.Arg2731Gly) c.7570A>G (p.Arg2524Gly) c.8290A>G (p.Arg2764Gly) c.8788A>G (p.Arg2930Gly) c.6385A>G (p.Arg2129Gly) | |
2 | g.237336309T>G | CA431701672 | COL6A3 | c.1436A>C c.8173A>C (p.Arg2725=) c.918A>C n.1058A>C c.8791A>C (p.Arg2931=) c.6967A>C (p.Arg2323=) c.6970A>C (p.Arg2324=) n.5233A>C c.8191A>C (p.Arg2731=) c.7570A>C (p.Arg2524=) c.8290A>C (p.Arg2764=) c.8788A>C (p.Arg2930=) c.6385A>C (p.Arg2129=) | |
2 | g.237336310A>C | CA431701675 | COL6A3 | c.1435T>G c.8172T>G (p.Val2724=) c.917T>G n.1057T>G c.8790T>G (p.Val2930=) c.6966T>G (p.Val2322=) c.6969T>G (p.Val2323=) n.5232T>G c.8190T>G (p.Val2730=) c.7569T>G (p.Val2523=) c.8289T>G (p.Val2763=) c.8787T>G (p.Val2929=) c.6384T>G (p.Val2128=) | |
2 | g.237336310A>G | CA431701678 | COL6A3 | c.1435T>C c.8172T>C (p.Val2724=) c.917T>C n.1057T>C c.8790T>C (p.Val2930=) c.6966T>C (p.Val2322=) c.6969T>C (p.Val2323=) n.5232T>C c.8190T>C (p.Val2730=) c.7569T>C (p.Val2523=) c.8289T>C (p.Val2763=) c.8787T>C (p.Val2929=) c.6384T>C (p.Val2128=) | |
2 | g.237336310A>T | CA431701682 | COL6A3 | c.1435T>A c.8172T>A (p.Val2724=) c.917T>A n.1057T>A c.8790T>A (p.Val2930=) c.6966T>A (p.Val2322=) c.6969T>A (p.Val2323=) n.5232T>A c.8190T>A (p.Val2730=) c.7569T>A (p.Val2523=) c.8289T>A (p.Val2763=) c.8787T>A (p.Val2929=) c.6384T>A (p.Val2128=) | |
2 | g.237336311A= | CA1337607130 | COL6A3 | c.1434T= c.8171T= (p.Val2724=) c.916T= n.1056T= c.8789T= (p.Val2930=) c.6965T= (p.Val2322=) c.6968T= (p.Val2323=) n.5231T= c.8189T= (p.Val2730=) c.7568T= (p.Val2523=) c.8288T= (p.Val2763=) c.8786T= (p.Val2929=) c.6383T= (p.Val2128=) | |
2 | g.237336311A>C | CA351191562 | COL6A3 | c.1434T>G c.8171T>G (p.Val2724Gly) c.916T>G n.1056T>G c.8789T>G (p.Val2930Gly) c.6965T>G (p.Val2322Gly) c.6968T>G (p.Val2323Gly) n.5231T>G c.8189T>G (p.Val2730Gly) c.7568T>G (p.Val2523Gly) c.8288T>G (p.Val2763Gly) c.8786T>G (p.Val2929Gly) c.6383T>G (p.Val2128Gly) | |
2 | g.237336311A>G | CA351191563 | COL6A3 | c.1434T>C c.8171T>C (p.Val2724Ala) c.916T>C n.1056T>C c.8789T>C (p.Val2930Ala) c.6965T>C (p.Val2322Ala) c.6968T>C (p.Val2323Ala) n.5231T>C c.8189T>C (p.Val2730Ala) c.7568T>C (p.Val2523Ala) c.8288T>C (p.Val2763Ala) c.8786T>C (p.Val2929Ala) c.6383T>C (p.Val2128Ala) | ClinVar dbSNP |
2 | g.237336311A>T | CA351191564 | COL6A3 | c.1434T>A c.8171T>A (p.Val2724Asp) c.916T>A n.1056T>A c.8789T>A (p.Val2930Asp) c.6965T>A (p.Val2322Asp) c.6968T>A (p.Val2323Asp) n.5231T>A c.8189T>A (p.Val2730Asp) c.7568T>A (p.Val2523Asp) c.8288T>A (p.Val2763Asp) c.8786T>A (p.Val2929Asp) c.6383T>A (p.Val2128Asp) | |
2 | g.237336312C>A | CA351191565 | COL6A3 | c.1433G>T c.8170G>T (p.Val2724Phe) c.915G>T n.1055G>T c.8788G>T (p.Val2930Phe) c.6964G>T (p.Val2322Phe) c.6967G>T (p.Val2323Phe) n.5230G>T c.8188G>T (p.Val2730Phe) c.7567G>T (p.Val2523Phe) c.8287G>T (p.Val2763Phe) c.8785G>T (p.Val2929Phe) c.6382G>T (p.Val2128Phe) | |
2 | g.237336312C= | CA1337607131 | COL6A3 | c.1433G= c.8170G= (p.Val2724=) c.915G= n.1055G= c.8788G= (p.Val2930=) c.6964G= (p.Val2322=) c.6967G= (p.Val2323=) n.5230G= c.8188G= (p.Val2730=) c.7567G= (p.Val2523=) c.8287G= (p.Val2763=) c.8785G= (p.Val2929=) c.6382G= (p.Val2128=) | |
2 | g.237336312C>G | CA351191567 | COL6A3 | c.1433G>C c.8170G>C (p.Val2724Leu) c.915G>C n.1055G>C c.8788G>C (p.Val2930Leu) c.6964G>C (p.Val2322Leu) c.6967G>C (p.Val2323Leu) n.5230G>C c.8188G>C (p.Val2730Leu) c.7567G>C (p.Val2523Leu) c.8287G>C (p.Val2763Leu) c.8785G>C (p.Val2929Leu) c.6382G>C (p.Val2128Leu) | |
2 | g.237336312C>T | CA351191569 | COL6A3 | c.1433G>A c.8170G>A (p.Val2724Ile) c.915G>A n.1055G>A c.8788G>A (p.Val2930Ile) c.6964G>A (p.Val2322Ile) c.6967G>A (p.Val2323Ile) n.5230G>A c.8188G>A (p.Val2730Ile) c.7567G>A (p.Val2523Ile) c.8287G>A (p.Val2763Ile) c.8785G>A (p.Val2929Ile) c.6382G>A (p.Val2128Ile) | dbSNP gnomAD v4 |
2 | g.237336313A>C | CA431701699 | COL6A3 | c.1432T>G c.8169T>G (p.Thr2723=) c.914T>G n.1054T>G c.8787T>G (p.Thr2929=) c.6963T>G (p.Thr2321=) c.6966T>G (p.Thr2322=) n.5229T>G c.8187T>G (p.Thr2729=) c.7566T>G (p.Thr2522=) c.8286T>G (p.Thr2762=) c.8784T>G (p.Thr2928=) c.6381T>G (p.Thr2127=) | |
2 | g.237336313A>G | CA431701700 | COL6A3 | c.1432T>C c.8169T>C (p.Thr2723=) c.914T>C n.1054T>C c.8787T>C (p.Thr2929=) c.6963T>C (p.Thr2321=) c.6966T>C (p.Thr2322=) n.5229T>C c.8187T>C (p.Thr2729=) c.7566T>C (p.Thr2522=) c.8286T>C (p.Thr2762=) c.8784T>C (p.Thr2928=) c.6381T>C (p.Thr2127=) | |
2 | g.237336313A>T | CA431701701 | COL6A3 | c.1432T>A c.8169T>A (p.Thr2723=) c.914T>A n.1054T>A c.8787T>A (p.Thr2929=) c.6963T>A (p.Thr2321=) c.6966T>A (p.Thr2322=) n.5229T>A c.8187T>A (p.Thr2729=) c.7566T>A (p.Thr2522=) c.8286T>A (p.Thr2762=) c.8784T>A (p.Thr2928=) c.6381T>A (p.Thr2127=) | |
2 | g.237336314G>A | CA351191572 | COL6A3 | c.1431C>T c.8168C>T (p.Thr2723Ile) c.913C>T n.1053C>T c.8786C>T (p.Thr2929Ile) c.6962C>T (p.Thr2321Ile) c.6965C>T (p.Thr2322Ile) n.5228C>T c.8186C>T (p.Thr2729Ile) c.7565C>T (p.Thr2522Ile) c.8285C>T (p.Thr2762Ile) c.8783C>T (p.Thr2928Ile) c.6380C>T (p.Thr2127Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336314G>C | CA351191581 | COL6A3 | c.1431C>G c.8168C>G (p.Thr2723Ser) c.913C>G n.1053C>G c.8786C>G (p.Thr2929Ser) c.6962C>G (p.Thr2321Ser) c.6965C>G (p.Thr2322Ser) n.5228C>G c.8186C>G (p.Thr2729Ser) c.7565C>G (p.Thr2522Ser) c.8285C>G (p.Thr2762Ser) c.8783C>G (p.Thr2928Ser) c.6380C>G (p.Thr2127Ser) | |
2 | g.237336314G= | CA1337607132 | COL6A3 | c.1431C= c.8168C= (p.Thr2723=) c.913C= n.1053C= c.8786C= (p.Thr2929=) c.6962C= (p.Thr2321=) c.6965C= (p.Thr2322=) n.5228C= c.8186C= (p.Thr2729=) c.7565C= (p.Thr2522=) c.8285C= (p.Thr2762=) c.8783C= (p.Thr2928=) c.6380C= (p.Thr2127=) | |
2 | g.237336314G>T | CA351191579 | COL6A3 | c.1431C>A c.8168C>A (p.Thr2723Asn) c.913C>A n.1053C>A c.8786C>A (p.Thr2929Asn) c.6962C>A (p.Thr2321Asn) c.6965C>A (p.Thr2322Asn) n.5228C>A c.8186C>A (p.Thr2729Asn) c.7565C>A (p.Thr2522Asn) c.8285C>A (p.Thr2762Asn) c.8783C>A (p.Thr2928Asn) c.6380C>A (p.Thr2127Asn) | |
2 | g.237336315T>A | CA351191584 | COL6A3 | c.1430A>T c.8167A>T (p.Thr2723Ser) c.912A>T n.1052A>T c.8785A>T (p.Thr2929Ser) c.6961A>T (p.Thr2321Ser) c.6964A>T (p.Thr2322Ser) n.5227A>T c.8185A>T (p.Thr2729Ser) c.7564A>T (p.Thr2522Ser) c.8284A>T (p.Thr2762Ser) c.8782A>T (p.Thr2928Ser) c.6379A>T (p.Thr2127Ser) | |
2 | g.237336315T>C | CA351191585 | COL6A3 | c.1430A>G c.8167A>G (p.Thr2723Ala) c.912A>G n.1052A>G c.8785A>G (p.Thr2929Ala) c.6961A>G (p.Thr2321Ala) c.6964A>G (p.Thr2322Ala) n.5227A>G c.8185A>G (p.Thr2729Ala) c.7564A>G (p.Thr2522Ala) c.8284A>G (p.Thr2762Ala) c.8782A>G (p.Thr2928Ala) c.6379A>G (p.Thr2127Ala) | |
2 | g.237336315T>G | CA351191586 | COL6A3 | c.1430A>C c.8167A>C (p.Thr2723Pro) c.912A>C n.1052A>C c.8785A>C (p.Thr2929Pro) c.6961A>C (p.Thr2321Pro) c.6964A>C (p.Thr2322Pro) n.5227A>C c.8185A>C (p.Thr2729Pro) c.7564A>C (p.Thr2522Pro) c.8284A>C (p.Thr2762Pro) c.8782A>C (p.Thr2928Pro) c.6379A>C (p.Thr2127Pro) | |
2 | g.237336316G>A | CA431701715 | COL6A3 | c.1429C>T c.8166C>T (p.Ala2722=) c.911C>T n.1051C>T c.8784C>T (p.Ala2928=) c.6960C>T (p.Ala2320=) c.6963C>T (p.Ala2321=) n.5226C>T c.8184C>T (p.Ala2728=) c.7563C>T (p.Ala2521=) c.8283C>T (p.Ala2761=) c.8781C>T (p.Ala2927=) c.6378C>T (p.Ala2126=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336316G>C | CA431701722 | COL6A3 | c.1429C>G c.8166C>G (p.Ala2722=) c.911C>G n.1051C>G c.8784C>G (p.Ala2928=) c.6960C>G (p.Ala2320=) c.6963C>G (p.Ala2321=) n.5226C>G c.8184C>G (p.Ala2728=) c.7563C>G (p.Ala2521=) c.8283C>G (p.Ala2761=) c.8781C>G (p.Ala2927=) c.6378C>G (p.Ala2126=) | |
2 | g.237336316G= | CA1337607133 | COL6A3 | c.1429C= c.8166C= (p.Ala2722=) c.911C= n.1051C= c.8784C= (p.Ala2928=) c.6960C= (p.Ala2320=) c.6963C= (p.Ala2321=) n.5226C= c.8184C= (p.Ala2728=) c.7563C= (p.Ala2521=) c.8283C= (p.Ala2761=) c.8781C= (p.Ala2927=) c.6378C= (p.Ala2126=) | |
2 | g.237336316G>T | CA431701718 | COL6A3 | c.1429C>A c.8166C>A (p.Ala2722=) c.911C>A n.1051C>A c.8784C>A (p.Ala2928=) c.6960C>A (p.Ala2320=) c.6963C>A (p.Ala2321=) n.5226C>A c.8184C>A (p.Ala2728=) c.7563C>A (p.Ala2521=) c.8283C>A (p.Ala2761=) c.8781C>A (p.Ala2927=) c.6378C>A (p.Ala2126=) | |
2 | g.237336317G>A | CA351191587 | COL6A3 | c.1428C>T c.8165C>T (p.Ala2722Val) c.910C>T n.1050C>T c.8783C>T (p.Ala2928Val) c.6959C>T (p.Ala2320Val) c.6962C>T (p.Ala2321Val) n.5225C>T c.8183C>T (p.Ala2728Val) c.7562C>T (p.Ala2521Val) c.8282C>T (p.Ala2761Val) c.8780C>T (p.Ala2927Val) c.6377C>T (p.Ala2126Val) | |
2 | g.237336317G>C | CA351191589 | COL6A3 | c.1428C>G c.8165C>G (p.Ala2722Gly) c.910C>G n.1050C>G c.8783C>G (p.Ala2928Gly) c.6959C>G (p.Ala2320Gly) c.6962C>G (p.Ala2321Gly) n.5225C>G c.8183C>G (p.Ala2728Gly) c.7562C>G (p.Ala2521Gly) c.8282C>G (p.Ala2761Gly) c.8780C>G (p.Ala2927Gly) c.6377C>G (p.Ala2126Gly) | |
2 | g.237336317G>T | CA351191590 | COL6A3 | c.1428C>A c.8165C>A (p.Ala2722Asp) c.910C>A n.1050C>A c.8783C>A (p.Ala2928Asp) c.6959C>A (p.Ala2320Asp) c.6962C>A (p.Ala2321Asp) n.5225C>A c.8183C>A (p.Ala2728Asp) c.7562C>A (p.Ala2521Asp) c.8282C>A (p.Ala2761Asp) c.8780C>A (p.Ala2927Asp) c.6377C>A (p.Ala2126Asp) | |
2 | g.237336318C>A | CA351191591 | COL6A3 | c.1427G>T c.8164G>T (p.Ala2722Ser) c.909G>T n.1049G>T c.8782G>T (p.Ala2928Ser) c.6958G>T (p.Ala2320Ser) c.6961G>T (p.Ala2321Ser) n.5224G>T c.8182G>T (p.Ala2728Ser) c.7561G>T (p.Ala2521Ser) c.8281G>T (p.Ala2761Ser) c.8779G>T (p.Ala2927Ser) c.6376G>T (p.Ala2126Ser) | |
2 | g.237336318C>G | CA351191592 | COL6A3 | c.1427G>C c.8164G>C (p.Ala2722Pro) c.909G>C n.1049G>C c.8782G>C (p.Ala2928Pro) c.6958G>C (p.Ala2320Pro) c.6961G>C (p.Ala2321Pro) n.5224G>C c.8182G>C (p.Ala2728Pro) c.7561G>C (p.Ala2521Pro) c.8281G>C (p.Ala2761Pro) c.8779G>C (p.Ala2927Pro) c.6376G>C (p.Ala2126Pro) | |
2 | g.237336318C>T | CA351191593 | COL6A3 | c.1427G>A c.8164G>A (p.Ala2722Thr) c.909G>A n.1049G>A c.8782G>A (p.Ala2928Thr) c.6958G>A (p.Ala2320Thr) c.6961G>A (p.Ala2321Thr) n.5224G>A c.8182G>A (p.Ala2728Thr) c.7561G>A (p.Ala2521Thr) c.8281G>A (p.Ala2761Thr) c.8779G>A (p.Ala2927Thr) c.6376G>A (p.Ala2126Thr) | ClinVar gnomAD v4 |
2 | g.237336319C>A | CA2187446 | COL6A3 | c.1426G>T c.8163G>T (p.Met2721Ile) c.908G>T n.1048G>T c.8781G>T (p.Met2927Ile) c.6957G>T (p.Met2319Ile) c.6960G>T (p.Met2320Ile) n.5223G>T c.8181G>T (p.Met2727Ile) c.7560G>T (p.Met2520Ile) c.8280G>T (p.Met2760Ile) c.8778G>T (p.Met2926Ile) c.6375G>T (p.Met2125Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336319C= | CA1337607134 | COL6A3 | c.1426G= c.8163G= (p.Met2721=) c.908G= n.1048G= c.8781G= (p.Met2927=) c.6957G= (p.Met2319=) c.6960G= (p.Met2320=) n.5223G= c.8181G= (p.Met2727=) c.7560G= (p.Met2520=) c.8280G= (p.Met2760=) c.8778G= (p.Met2926=) c.6375G= (p.Met2125=) | |
2 | g.237336319C>G | CA351191594 | COL6A3 | c.1426G>C c.8163G>C (p.Met2721Ile) c.908G>C n.1048G>C c.8781G>C (p.Met2927Ile) c.6957G>C (p.Met2319Ile) c.6960G>C (p.Met2320Ile) n.5223G>C c.8181G>C (p.Met2727Ile) c.7560G>C (p.Met2520Ile) c.8280G>C (p.Met2760Ile) c.8778G>C (p.Met2926Ile) c.6375G>C (p.Met2125Ile) | |
2 | g.237336319C>T | CA351191595 | COL6A3 | c.1426G>A c.8163G>A (p.Met2721Ile) c.908G>A n.1048G>A c.8781G>A (p.Met2927Ile) c.6957G>A (p.Met2319Ile) c.6960G>A (p.Met2320Ile) n.5223G>A c.8181G>A (p.Met2727Ile) c.7560G>A (p.Met2520Ile) c.8280G>A (p.Met2760Ile) c.8778G>A (p.Met2926Ile) c.6375G>A (p.Met2125Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336319_237336320delinsAG | CA2573135627 | COL6A3 | c.1425_1426delinsCT c.8162_8163delinsCT (p.Met2721Thr) c.907_908delinsCT n.1047_1048delinsCT c.8780_8781delinsCT (p.Met2927Thr) c.6956_6957delinsCT (p.Met2319Thr) c.6959_6960delinsCT (p.Met2320Thr) n.5222_5223delinsCT c.8180_8181delinsCT (p.Met2727Thr) c.7559_7560delinsCT (p.Met2520Thr) c.8279_8280delinsCT (p.Met2760Thr) c.8777_8778delinsCT (p.Met2926Thr) c.6374_6375delinsCT (p.Met2125Thr) | ClinVar dbSNP |
2 | g.237336319_237336320delinsTG | CA2580066109 | COL6A3 | c.1425_1426delinsCA c.8162_8163delinsCA (p.Met2721Thr) c.907_908delinsCA n.1047_1048delinsCA c.8780_8781delinsCA (p.Met2927Thr) c.6956_6957delinsCA (p.Met2319Thr) c.6959_6960delinsCA (p.Met2320Thr) n.5222_5223delinsCA c.8180_8181delinsCA (p.Met2727Thr) c.7559_7560delinsCA (p.Met2520Thr) c.8279_8280delinsCA (p.Met2760Thr) c.8777_8778delinsCA (p.Met2926Thr) c.6374_6375delinsCA (p.Met2125Thr) | ClinVar |
2 | g.237336320A= | CA1337607135 | COL6A3 | c.1425T= c.8162T= (p.Met2721=) c.907T= n.1047T= c.8780T= (p.Met2927=) c.6956T= (p.Met2319=) c.6959T= (p.Met2320=) n.5222T= c.8180T= (p.Met2727=) c.7559T= (p.Met2520=) c.8279T= (p.Met2760=) c.8777T= (p.Met2926=) c.6374T= (p.Met2125=) | |
2 | g.237336320A>C | CA351191596 | COL6A3 | c.1425T>G c.8162T>G (p.Met2721Arg) c.907T>G n.1047T>G c.8780T>G (p.Met2927Arg) c.6956T>G (p.Met2319Arg) c.6959T>G (p.Met2320Arg) n.5222T>G c.8180T>G (p.Met2727Arg) c.7559T>G (p.Met2520Arg) c.8279T>G (p.Met2760Arg) c.8777T>G (p.Met2926Arg) c.6374T>G (p.Met2125Arg) | dbSNP |
2 | g.237336320A>G | CA148069 | COL6A3 | c.1425T>C c.8162T>C (p.Met2721Thr) c.907T>C n.1047T>C c.8780T>C (p.Met2927Thr) c.6956T>C (p.Met2319Thr) c.6959T>C (p.Met2320Thr) n.5222T>C c.8180T>C (p.Met2727Thr) c.7559T>C (p.Met2520Thr) c.8279T>C (p.Met2760Thr) c.8777T>C (p.Met2926Thr) c.6374T>C (p.Met2125Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336320A>T | CA351191597 | COL6A3 | c.1425T>A c.8162T>A (p.Met2721Lys) c.907T>A n.1047T>A c.8780T>A (p.Met2927Lys) c.6956T>A (p.Met2319Lys) c.6959T>A (p.Met2320Lys) n.5222T>A c.8180T>A (p.Met2727Lys) c.7559T>A (p.Met2520Lys) c.8279T>A (p.Met2760Lys) c.8777T>A (p.Met2926Lys) c.6374T>A (p.Met2125Lys) | |
2 | g.237336320_237336321delinsGA | CA2573135628 | COL6A3 | c.1424_1425delinsTC c.8161_8162delinsTC (p.Met2721Ser) c.906_907delinsTC n.1046_1047delinsTC c.8779_8780delinsTC (p.Met2927Ser) c.6955_6956delinsTC (p.Met2319Ser) c.6958_6959delinsTC (p.Met2320Ser) n.5221_5222delinsTC c.8179_8180delinsTC (p.Met2727Ser) c.7558_7559delinsTC (p.Met2520Ser) c.8278_8279delinsTC (p.Met2760Ser) c.8776_8777delinsTC (p.Met2926Ser) c.6373_6374delinsTC (p.Met2125Ser) | ClinVar dbSNP |
2 | g.237336321T>A | CA351191599 | COL6A3 | c.1424A>T c.8161A>T (p.Met2721Leu) c.906A>T n.1046A>T c.8779A>T (p.Met2927Leu) c.6955A>T (p.Met2319Leu) c.6958A>T (p.Met2320Leu) n.5221A>T c.8179A>T (p.Met2727Leu) c.7558A>T (p.Met2520Leu) c.8278A>T (p.Met2760Leu) c.8776A>T (p.Met2926Leu) c.6373A>T (p.Met2125Leu) | gnomAD v4 |
2 | g.237336321T>C | CA351191601 | COL6A3 | c.1424A>G c.8161A>G (p.Met2721Val) c.906A>G n.1046A>G c.8779A>G (p.Met2927Val) c.6955A>G (p.Met2319Val) c.6958A>G (p.Met2320Val) n.5221A>G c.8179A>G (p.Met2727Val) c.7558A>G (p.Met2520Val) c.8278A>G (p.Met2760Val) c.8776A>G (p.Met2926Val) c.6373A>G (p.Met2125Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336321T>G | CA351191603 | COL6A3 | c.1424A>C c.8161A>C (p.Met2721Leu) c.906A>C n.1046A>C c.8779A>C (p.Met2927Leu) c.6955A>C (p.Met2319Leu) c.6958A>C (p.Met2320Leu) n.5221A>C c.8179A>C (p.Met2727Leu) c.7558A>C (p.Met2520Leu) c.8278A>C (p.Met2760Leu) c.8776A>C (p.Met2926Leu) c.6373A>C (p.Met2125Leu) | |
2 | g.237336321T= | CA1337607136 | COL6A3 | c.1424A= c.8161A= (p.Met2721=) c.906A= n.1046A= c.8779A= (p.Met2927=) c.6955A= (p.Met2319=) c.6958A= (p.Met2320=) n.5221A= c.8179A= (p.Met2727=) c.7558A= (p.Met2520=) c.8278A= (p.Met2760=) c.8776A= (p.Met2926=) c.6373A= (p.Met2125=) | |
2 | g.237336322C>A | CA351191605 | COL6A3 | c.1423G>T c.8160G>T (p.Lys2720Asn) c.905G>T n.1045G>T c.8778G>T (p.Lys2926Asn) c.6954G>T (p.Lys2318Asn) c.6957G>T (p.Lys2319Asn) n.5220G>T c.8178G>T (p.Lys2726Asn) c.7557G>T (p.Lys2519Asn) c.8277G>T (p.Lys2759Asn) c.8775G>T (p.Lys2925Asn) c.6372G>T (p.Lys2124Asn) | |
2 | g.237336322C= | CA1337607137 | COL6A3 | c.1423G= c.8160G= (p.Lys2720=) c.905G= n.1045G= c.8778G= (p.Lys2926=) c.6954G= (p.Lys2318=) c.6957G= (p.Lys2319=) n.5220G= c.8178G= (p.Lys2726=) c.7557G= (p.Lys2519=) c.8277G= (p.Lys2759=) c.8775G= (p.Lys2925=) c.6372G= (p.Lys2124=) | |
2 | g.237336322C>G | CA351191607 | COL6A3 | c.1423G>C c.8160G>C (p.Lys2720Asn) c.905G>C n.1045G>C c.8778G>C (p.Lys2926Asn) c.6954G>C (p.Lys2318Asn) c.6957G>C (p.Lys2319Asn) n.5220G>C c.8178G>C (p.Lys2726Asn) c.7557G>C (p.Lys2519Asn) c.8277G>C (p.Lys2759Asn) c.8775G>C (p.Lys2925Asn) c.6372G>C (p.Lys2124Asn) | dbSNP gnomAD v4 |
2 | g.237336322C>T | CA431701770 | COL6A3 | c.1423G>A c.8160G>A (p.Lys2720=) c.905G>A n.1045G>A c.8778G>A (p.Lys2926=) c.6954G>A (p.Lys2318=) c.6957G>A (p.Lys2319=) n.5220G>A c.8178G>A (p.Lys2726=) c.7557G>A (p.Lys2519=) c.8277G>A (p.Lys2759=) c.8775G>A (p.Lys2925=) c.6372G>A (p.Lys2124=) | |
2 | g.237336323T>A | CA351191610 | COL6A3 | c.1422A>T c.8159A>T (p.Lys2720Met) c.904A>T n.1044A>T c.8777A>T (p.Lys2926Met) c.6953A>T (p.Lys2318Met) c.6956A>T (p.Lys2319Met) n.5219A>T c.8177A>T (p.Lys2726Met) c.7556A>T (p.Lys2519Met) c.8276A>T (p.Lys2759Met) c.8774A>T (p.Lys2925Met) c.6371A>T (p.Lys2124Met) | |
2 | g.237336323T>C | CA351191609 | COL6A3 | c.1422A>G c.8159A>G (p.Lys2720Arg) c.904A>G n.1044A>G c.8777A>G (p.Lys2926Arg) c.6953A>G (p.Lys2318Arg) c.6956A>G (p.Lys2319Arg) n.5219A>G c.8177A>G (p.Lys2726Arg) c.7556A>G (p.Lys2519Arg) c.8276A>G (p.Lys2759Arg) c.8774A>G (p.Lys2925Arg) c.6371A>G (p.Lys2124Arg) | |
2 | g.237336323T>G | CA351191608 | COL6A3 | c.1422A>C c.8159A>C (p.Lys2720Thr) c.904A>C n.1044A>C c.8777A>C (p.Lys2926Thr) c.6953A>C (p.Lys2318Thr) c.6956A>C (p.Lys2319Thr) n.5219A>C c.8177A>C (p.Lys2726Thr) c.7556A>C (p.Lys2519Thr) c.8276A>C (p.Lys2759Thr) c.8774A>C (p.Lys2925Thr) c.6371A>C (p.Lys2124Thr) | |
2 | g.237336324T>A | CA351191612 | COL6A3 | c.1421A>T c.8158A>T (p.Lys2720Ter) c.903A>T n.1043A>T c.8776A>T (p.Lys2926Ter) c.6952A>T (p.Lys2318Ter) c.6955A>T (p.Lys2319Ter) n.5218A>T c.8176A>T (p.Lys2726Ter) c.7555A>T (p.Lys2519Ter) c.8275A>T (p.Lys2759Ter) c.8773A>T (p.Lys2925Ter) c.6370A>T (p.Lys2124Ter) | |
2 | g.237336324T>C | CA351191614 | COL6A3 | c.1421A>G c.8158A>G (p.Lys2720Glu) c.903A>G n.1043A>G c.8776A>G (p.Lys2926Glu) c.6952A>G (p.Lys2318Glu) c.6955A>G (p.Lys2319Glu) n.5218A>G c.8176A>G (p.Lys2726Glu) c.7555A>G (p.Lys2519Glu) c.8275A>G (p.Lys2759Glu) c.8773A>G (p.Lys2925Glu) c.6370A>G (p.Lys2124Glu) | |
2 | g.237336324T>G | CA351191616 | COL6A3 | c.1421A>C c.8158A>C (p.Lys2720Gln) c.903A>C n.1043A>C c.8776A>C (p.Lys2926Gln) c.6952A>C (p.Lys2318Gln) c.6955A>C (p.Lys2319Gln) n.5218A>C c.8176A>C (p.Lys2726Gln) c.7555A>C (p.Lys2519Gln) c.8275A>C (p.Lys2759Gln) c.8773A>C (p.Lys2925Gln) c.6370A>C (p.Lys2124Gln) | |
2 | g.237336325T>A | CA431701783 | COL6A3 | c.1420A>T c.8157A>T (p.Thr2719=) c.902A>T n.1042A>T c.8775A>T (p.Thr2925=) c.6951A>T (p.Thr2317=) c.6954A>T (p.Thr2318=) n.5217A>T c.8175A>T (p.Thr2725=) c.7554A>T (p.Thr2518=) c.8274A>T (p.Thr2758=) c.8772A>T (p.Thr2924=) c.6369A>T (p.Thr2123=) | |
2 | g.237336325T>C | CA431701785 | COL6A3 | c.1420A>G c.8157A>G (p.Thr2719=) c.902A>G n.1042A>G c.8775A>G (p.Thr2925=) c.6951A>G (p.Thr2317=) c.6954A>G (p.Thr2318=) n.5217A>G c.8175A>G (p.Thr2725=) c.7554A>G (p.Thr2518=) c.8274A>G (p.Thr2758=) c.8772A>G (p.Thr2924=) c.6369A>G (p.Thr2123=) | |
2 | g.237336325T>G | CA431701787 | COL6A3 | c.1420A>C c.8157A>C (p.Thr2719=) c.902A>C n.1042A>C c.8775A>C (p.Thr2925=) c.6951A>C (p.Thr2317=) c.6954A>C (p.Thr2318=) n.5217A>C c.8175A>C (p.Thr2725=) c.7554A>C (p.Thr2518=) c.8274A>C (p.Thr2758=) c.8772A>C (p.Thr2924=) c.6369A>C (p.Thr2123=) | |
2 | g.237336326G>A | CA351191617 | COL6A3 | c.1419C>T c.8156C>T (p.Thr2719Ile) c.901C>T n.1041C>T c.8774C>T (p.Thr2925Ile) c.6950C>T (p.Thr2317Ile) c.6953C>T (p.Thr2318Ile) n.5216C>T c.8174C>T (p.Thr2725Ile) c.7553C>T (p.Thr2518Ile) c.8273C>T (p.Thr2758Ile) c.8771C>T (p.Thr2924Ile) c.6368C>T (p.Thr2123Ile) | |
2 | g.237336326G>C | CA351191618 | COL6A3 | c.1419C>G c.8156C>G (p.Thr2719Arg) c.901C>G n.1041C>G c.8774C>G (p.Thr2925Arg) c.6950C>G (p.Thr2317Arg) c.6953C>G (p.Thr2318Arg) n.5216C>G c.8174C>G (p.Thr2725Arg) c.7553C>G (p.Thr2518Arg) c.8273C>G (p.Thr2758Arg) c.8771C>G (p.Thr2924Arg) c.6368C>G (p.Thr2123Arg) | |
2 | g.237336326G>T | CA351191619 | COL6A3 | c.1419C>A c.8156C>A (p.Thr2719Lys) c.901C>A n.1041C>A c.8774C>A (p.Thr2925Lys) c.6950C>A (p.Thr2317Lys) c.6953C>A (p.Thr2318Lys) n.5216C>A c.8174C>A (p.Thr2725Lys) c.7553C>A (p.Thr2518Lys) c.8273C>A (p.Thr2758Lys) c.8771C>A (p.Thr2924Lys) c.6368C>A (p.Thr2123Lys) | |
2 | g.237336327T>A | CA351191620 | COL6A3 | c.1418A>T c.8155A>T (p.Thr2719Ser) c.900A>T n.1040A>T c.8773A>T (p.Thr2925Ser) c.6949A>T (p.Thr2317Ser) c.6952A>T (p.Thr2318Ser) n.5215A>T c.8173A>T (p.Thr2725Ser) c.7552A>T (p.Thr2518Ser) c.8272A>T (p.Thr2758Ser) c.8770A>T (p.Thr2924Ser) c.6367A>T (p.Thr2123Ser) | |
2 | g.237336327T>C | CA351191623 | COL6A3 | c.1418A>G c.8155A>G (p.Thr2719Ala) c.900A>G n.1040A>G c.8773A>G (p.Thr2925Ala) c.6949A>G (p.Thr2317Ala) c.6952A>G (p.Thr2318Ala) n.5215A>G c.8173A>G (p.Thr2725Ala) c.7552A>G (p.Thr2518Ala) c.8272A>G (p.Thr2758Ala) c.8770A>G (p.Thr2924Ala) c.6367A>G (p.Thr2123Ala) | ClinVar gnomAD v4 |
2 | g.237336327T>G | CA351191621 | COL6A3 | c.1418A>C c.8155A>C (p.Thr2719Pro) c.900A>C n.1040A>C c.8773A>C (p.Thr2925Pro) c.6949A>C (p.Thr2317Pro) c.6952A>C (p.Thr2318Pro) n.5215A>C c.8173A>C (p.Thr2725Pro) c.7552A>C (p.Thr2518Pro) c.8272A>C (p.Thr2758Pro) c.8770A>C (p.Thr2924Pro) c.6367A>C (p.Thr2123Pro) | |
2 | g.237336328G>A | CA431701826 | COL6A3 | c.1417C>T c.8154C>T (p.Ala2718=) c.899C>T n.1039C>T c.8772C>T (p.Ala2924=) c.6948C>T (p.Ala2316=) c.6951C>T (p.Ala2317=) n.5214C>T c.8172C>T (p.Ala2724=) c.7551C>T (p.Ala2517=) c.8271C>T (p.Ala2757=) c.8769C>T (p.Ala2923=) c.6366C>T (p.Ala2122=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336328G>C | CA431701829 | COL6A3 | c.1417C>G c.8154C>G (p.Ala2718=) c.899C>G n.1039C>G c.8772C>G (p.Ala2924=) c.6948C>G (p.Ala2316=) c.6951C>G (p.Ala2317=) n.5214C>G c.8172C>G (p.Ala2724=) c.7551C>G (p.Ala2517=) c.8271C>G (p.Ala2757=) c.8769C>G (p.Ala2923=) c.6366C>G (p.Ala2122=) | gnomAD v4 |
2 | g.237336328G= | CA1337607138 | COL6A3 | c.1417C= c.8154C= (p.Ala2718=) c.899C= n.1039C= c.8772C= (p.Ala2924=) c.6948C= (p.Ala2316=) c.6951C= (p.Ala2317=) n.5214C= c.8172C= (p.Ala2724=) c.7551C= (p.Ala2517=) c.8271C= (p.Ala2757=) c.8769C= (p.Ala2923=) c.6366C= (p.Ala2122=) | |
2 | g.237336328G>T | CA431701835 | COL6A3 | c.1417C>A c.8154C>A (p.Ala2718=) c.899C>A n.1039C>A c.8772C>A (p.Ala2924=) c.6948C>A (p.Ala2316=) c.6951C>A (p.Ala2317=) n.5214C>A c.8172C>A (p.Ala2724=) c.7551C>A (p.Ala2517=) c.8271C>A (p.Ala2757=) c.8769C>A (p.Ala2923=) c.6366C>A (p.Ala2122=) | COSMIC |
2 | g.237336328_237336342dup | CA2580066110 | COL6A3 | c.1403_1417dup c.8140_8154dup (p.Ala2718_Thr2719insAlaLysProValAla) c.885_899dup n.1025_1039dup c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla) c.6934_6948dup (p.Ala2316_Thr2317insAlaLysProValAla) c.6937_6951dup (p.Ala2317_Thr2318insAlaLysProValAla) n.5200_5214dup c.8158_8172dup (p.Ala2724_Thr2725insAlaLysProValAla) c.7537_7551dup (p.Ala2517_Thr2518insAlaLysProValAla) c.8257_8271dup (p.Ala2757_Thr2758insAlaLysProValAla) c.8755_8769dup (p.Ala2923_Thr2924insAlaLysProValAla) c.6352_6366dup (p.Ala2122_Thr2123insAlaLysProValAla) | ClinVar |
2 | g.237336328_237336343delinsGGCCACAGGCTTGGCA | CA1337607139 | COL6A3 | c.1402_1417delinsTGCCAAGCCTGTGGCC c.8139_8154delinsTGCCAAGCCTGTGGCC (p.Ala2713=) c.884_899delinsTGCCAAGCCTGTGGCC n.1024_1039delinsTGCCAAGCCTGTGGCC c.8757_8772delinsTGCCAAGCCTGTGGCC (p.Ala2919=) c.6933_6948delinsTGCCAAGCCTGTGGCC (p.Ala2311=) c.6936_6951delinsTGCCAAGCCTGTGGCC (p.Ala2312=) n.5199_5214delinsTGCCAAGCCTGTGGCC c.8157_8172delinsTGCCAAGCCTGTGGCC (p.Ala2719=) c.7536_7551delinsTGCCAAGCCTGTGGCC (p.Ala2512=) c.8256_8271delinsTGCCAAGCCTGTGGCC (p.Ala2752=) c.8754_8769delinsTGCCAAGCCTGTGGCC (p.Ala2918=) c.6351_6366delinsTGCCAAGCCTGTGGCC (p.Ala2117=) | |
2 | g.237336329G>A | CA351191625 | COL6A3 | c.1416C>T c.8153C>T (p.Ala2718Val) c.898C>T n.1038C>T c.8771C>T (p.Ala2924Val) c.6947C>T (p.Ala2316Val) c.6950C>T (p.Ala2317Val) n.5213C>T c.8171C>T (p.Ala2724Val) c.7550C>T (p.Ala2517Val) c.8270C>T (p.Ala2757Val) c.8768C>T (p.Ala2923Val) c.6365C>T (p.Ala2122Val) | dbSNP |
2 | g.237336329G>C | CA351191627 | COL6A3 | c.1416C>G c.8153C>G (p.Ala2718Gly) c.898C>G n.1038C>G c.8771C>G (p.Ala2924Gly) c.6947C>G (p.Ala2316Gly) c.6950C>G (p.Ala2317Gly) n.5213C>G c.8171C>G (p.Ala2724Gly) c.7550C>G (p.Ala2517Gly) c.8270C>G (p.Ala2757Gly) c.8768C>G (p.Ala2923Gly) c.6365C>G (p.Ala2122Gly) | |
2 | g.237336329G= | CA1337607140 | COL6A3 | c.1416C= c.8153C= (p.Ala2718=) c.898C= n.1038C= c.8771C= (p.Ala2924=) c.6947C= (p.Ala2316=) c.6950C= (p.Ala2317=) n.5213C= c.8171C= (p.Ala2724=) c.7550C= (p.Ala2517=) c.8270C= (p.Ala2757=) c.8768C= (p.Ala2923=) c.6365C= (p.Ala2122=) | |
2 | g.237336329G>T | CA351191629 | COL6A3 | c.1416C>A c.8153C>A (p.Ala2718Asp) c.898C>A n.1038C>A c.8771C>A (p.Ala2924Asp) c.6947C>A (p.Ala2316Asp) c.6950C>A (p.Ala2317Asp) n.5213C>A c.8171C>A (p.Ala2724Asp) c.7550C>A (p.Ala2517Asp) c.8270C>A (p.Ala2757Asp) c.8768C>A (p.Ala2923Asp) c.6365C>A (p.Ala2122Asp) | |
2 | g.237336337_237336351del | CA2187447 | COL6A3 | c.1402_1416del c.8139_8153del (p.Ala2714_Ala2718del) c.884_898del n.1024_1038del c.8757_8771del (p.Ala2920_Ala2924del) c.6933_6947del (p.Ala2312_Ala2316del) c.6936_6950del (p.Ala2313_Ala2317del) n.5199_5213del c.8157_8171del (p.Ala2720_Ala2724del) c.7536_7550del (p.Ala2513_Ala2517del) c.8256_8270del (p.Ala2753_Ala2757del) c.8754_8768del (p.Ala2919_Ala2923del) c.6351_6365del (p.Ala2118_Ala2122del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336330C>A | CA351191633 | COL6A3 | c.1415G>T c.8152G>T (p.Ala2718Ser) c.897G>T n.1037G>T c.8770G>T (p.Ala2924Ser) c.6946G>T (p.Ala2316Ser) c.6949G>T (p.Ala2317Ser) n.5212G>T c.8170G>T (p.Ala2724Ser) c.7549G>T (p.Ala2517Ser) c.8269G>T (p.Ala2757Ser) c.8767G>T (p.Ala2923Ser) c.6364G>T (p.Ala2122Ser) | |
2 | g.237336330C>G | CA351191635 | COL6A3 | c.1415G>C c.8152G>C (p.Ala2718Pro) c.897G>C n.1037G>C c.8770G>C (p.Ala2924Pro) c.6946G>C (p.Ala2316Pro) c.6949G>C (p.Ala2317Pro) n.5212G>C c.8170G>C (p.Ala2724Pro) c.7549G>C (p.Ala2517Pro) c.8269G>C (p.Ala2757Pro) c.8767G>C (p.Ala2923Pro) c.6364G>C (p.Ala2122Pro) | |
2 | g.237336330C>T | CA351191637 | COL6A3 | c.1415G>A c.8152G>A (p.Ala2718Thr) c.897G>A n.1037G>A c.8770G>A (p.Ala2924Thr) c.6946G>A (p.Ala2316Thr) c.6949G>A (p.Ala2317Thr) n.5212G>A c.8170G>A (p.Ala2724Thr) c.7549G>A (p.Ala2517Thr) c.8269G>A (p.Ala2757Thr) c.8767G>A (p.Ala2923Thr) c.6364G>A (p.Ala2122Thr) | gnomAD v4 |
2 | g.237336331C>A | CA431701868 | COL6A3 | c.1414G>T c.8151G>T (p.Val2717=) c.896G>T n.1036G>T c.8769G>T (p.Val2923=) c.6945G>T (p.Val2315=) c.6948G>T (p.Val2316=) n.5211G>T c.8169G>T (p.Val2723=) c.7548G>T (p.Val2516=) c.8268G>T (p.Val2756=) c.8766G>T (p.Val2922=) c.6363G>T (p.Val2121=) | |
2 | g.237336331C>G | CA431701870 | COL6A3 | c.1414G>C c.8151G>C (p.Val2717=) c.896G>C n.1036G>C c.8769G>C (p.Val2923=) c.6945G>C (p.Val2315=) c.6948G>C (p.Val2316=) n.5211G>C c.8169G>C (p.Val2723=) c.7548G>C (p.Val2516=) c.8268G>C (p.Val2756=) c.8766G>C (p.Val2922=) c.6363G>C (p.Val2121=) | |
2 | g.237336331C>T | CA431701872 | COL6A3 | c.1414G>A c.8151G>A (p.Val2717=) c.896G>A n.1036G>A c.8769G>A (p.Val2923=) c.6945G>A (p.Val2315=) c.6948G>A (p.Val2316=) n.5211G>A c.8169G>A (p.Val2723=) c.7548G>A (p.Val2516=) c.8268G>A (p.Val2756=) c.8766G>A (p.Val2922=) c.6363G>A (p.Val2121=) | |
2 | g.237336332A>C | CA351191640 | COL6A3 | c.1413T>G c.8150T>G (p.Val2717Gly) c.895T>G n.1035T>G c.8768T>G (p.Val2923Gly) c.6944T>G (p.Val2315Gly) c.6947T>G (p.Val2316Gly) n.5210T>G c.8168T>G (p.Val2723Gly) c.7547T>G (p.Val2516Gly) c.8267T>G (p.Val2756Gly) c.8765T>G (p.Val2922Gly) c.6362T>G (p.Val2121Gly) | |
2 | g.237336332A>G | CA351191641 | COL6A3 | c.1413T>C c.8150T>C (p.Val2717Ala) c.895T>C n.1035T>C c.8768T>C (p.Val2923Ala) c.6944T>C (p.Val2315Ala) c.6947T>C (p.Val2316Ala) n.5210T>C c.8168T>C (p.Val2723Ala) c.7547T>C (p.Val2516Ala) c.8267T>C (p.Val2756Ala) c.8765T>C (p.Val2922Ala) c.6362T>C (p.Val2121Ala) | |
2 | g.237336332A>T | CA351191643 | COL6A3 | c.1413T>A c.8150T>A (p.Val2717Glu) c.895T>A n.1035T>A c.8768T>A (p.Val2923Glu) c.6944T>A (p.Val2315Glu) c.6947T>A (p.Val2316Glu) n.5210T>A c.8168T>A (p.Val2723Glu) c.7547T>A (p.Val2516Glu) c.8267T>A (p.Val2756Glu) c.8765T>A (p.Val2922Glu) c.6362T>A (p.Val2121Glu) | |
2 | g.237336333C>A | CA351191649 | COL6A3 | c.1412G>T c.8149G>T (p.Val2717Leu) c.894G>T n.1034G>T c.8767G>T (p.Val2923Leu) c.6943G>T (p.Val2315Leu) c.6946G>T (p.Val2316Leu) n.5209G>T c.8167G>T (p.Val2723Leu) c.7546G>T (p.Val2516Leu) c.8266G>T (p.Val2756Leu) c.8764G>T (p.Val2922Leu) c.6361G>T (p.Val2121Leu) | |
2 | g.237336333C>G | CA351191648 | COL6A3 | c.1412G>C c.8149G>C (p.Val2717Leu) c.894G>C n.1034G>C c.8767G>C (p.Val2923Leu) c.6943G>C (p.Val2315Leu) c.6946G>C (p.Val2316Leu) n.5209G>C c.8167G>C (p.Val2723Leu) c.7546G>C (p.Val2516Leu) c.8266G>C (p.Val2756Leu) c.8764G>C (p.Val2922Leu) c.6361G>C (p.Val2121Leu) | |
2 | g.237336333C>T | CA351191646 | COL6A3 | c.1412G>A c.8149G>A (p.Val2717Met) c.894G>A n.1034G>A c.8767G>A (p.Val2923Met) c.6943G>A (p.Val2315Met) c.6946G>A (p.Val2316Met) n.5209G>A c.8167G>A (p.Val2723Met) c.7546G>A (p.Val2516Met) c.8266G>A (p.Val2756Met) c.8764G>A (p.Val2922Met) c.6361G>A (p.Val2121Met) | |
2 | g.237336334A= | CA1337607141 | COL6A3 | c.1411T= c.8148T= (p.Pro2716=) c.893T= n.1033T= c.8766T= (p.Pro2922=) c.6942T= (p.Pro2314=) c.6945T= (p.Pro2315=) n.5208T= c.8166T= (p.Pro2722=) c.7545T= (p.Pro2515=) c.8265T= (p.Pro2755=) c.8763T= (p.Pro2921=) c.6360T= (p.Pro2120=) | |
2 | g.237336334A>C | CA431701895 | COL6A3 | c.1411T>G c.8148T>G (p.Pro2716=) c.893T>G n.1033T>G c.8766T>G (p.Pro2922=) c.6942T>G (p.Pro2314=) c.6945T>G (p.Pro2315=) n.5208T>G c.8166T>G (p.Pro2722=) c.7545T>G (p.Pro2515=) c.8265T>G (p.Pro2755=) c.8763T>G (p.Pro2921=) c.6360T>G (p.Pro2120=) | |
2 | g.237336334A>G | CA431701898 | COL6A3 | c.1411T>C c.8148T>C (p.Pro2716=) c.893T>C n.1033T>C c.8766T>C (p.Pro2922=) c.6942T>C (p.Pro2314=) c.6945T>C (p.Pro2315=) n.5208T>C c.8166T>C (p.Pro2722=) c.7545T>C (p.Pro2515=) c.8265T>C (p.Pro2755=) c.8763T>C (p.Pro2921=) c.6360T>C (p.Pro2120=) | dbSNP gnomAD v4 |
2 | g.237336334A>T | CA431701899 | COL6A3 | c.1411T>A c.8148T>A (p.Pro2716=) c.893T>A n.1033T>A c.8766T>A (p.Pro2922=) c.6942T>A (p.Pro2314=) c.6945T>A (p.Pro2315=) n.5208T>A c.8166T>A (p.Pro2722=) c.7545T>A (p.Pro2515=) c.8265T>A (p.Pro2755=) c.8763T>A (p.Pro2921=) c.6360T>A (p.Pro2120=) | |
2 | g.237336335G>A | CA351191650 | COL6A3 | c.1410C>T c.8147C>T (p.Pro2716Leu) c.892C>T n.1032C>T c.8765C>T (p.Pro2922Leu) c.6941C>T (p.Pro2314Leu) c.6944C>T (p.Pro2315Leu) n.5207C>T c.8165C>T (p.Pro2722Leu) c.7544C>T (p.Pro2515Leu) c.8264C>T (p.Pro2755Leu) c.8762C>T (p.Pro2921Leu) c.6359C>T (p.Pro2120Leu) | gnomAD v4 COSMIC |
2 | g.237336335G>C | CA351191653 | COL6A3 | c.1410C>G c.8147C>G (p.Pro2716Arg) c.892C>G n.1032C>G c.8765C>G (p.Pro2922Arg) c.6941C>G (p.Pro2314Arg) c.6944C>G (p.Pro2315Arg) n.5207C>G c.8165C>G (p.Pro2722Arg) c.7544C>G (p.Pro2515Arg) c.8264C>G (p.Pro2755Arg) c.8762C>G (p.Pro2921Arg) c.6359C>G (p.Pro2120Arg) | |
2 | g.237336335G>T | CA351191652 | COL6A3 | c.1410C>A c.8147C>A (p.Pro2716His) c.892C>A n.1032C>A c.8765C>A (p.Pro2922His) c.6941C>A (p.Pro2314His) c.6944C>A (p.Pro2315His) n.5207C>A c.8165C>A (p.Pro2722His) c.7544C>A (p.Pro2515His) c.8264C>A (p.Pro2755His) c.8762C>A (p.Pro2921His) c.6359C>A (p.Pro2120His) | |
2 | g.237336336dup | CA916807165 | COL6A3 | c.1410dup c.8147dup (p.Val2717CysfsTer9) c.892dup n.1032dup c.8765dup (p.Val2923CysfsTer9) c.6941dup (p.Val2315CysfsTer9) c.6944dup (p.Val2316CysfsTer9) n.5207dup c.8165dup (p.Val2723CysfsTer9) c.7544dup (p.Val2516CysfsTer9) c.8264dup (p.Val2756CysfsTer9) c.8762dup (p.Val2922CysfsTer9) c.6359dup (p.Val2121CysfsTer9) | dbSNP |
2 | g.237336336G>A | CA351191655 | COL6A3 | c.1409C>T c.8146C>T (p.Pro2716Ser) c.891C>T n.1031C>T c.8764C>T (p.Pro2922Ser) c.6940C>T (p.Pro2314Ser) c.6943C>T (p.Pro2315Ser) n.5206C>T c.8164C>T (p.Pro2722Ser) c.7543C>T (p.Pro2515Ser) c.8263C>T (p.Pro2755Ser) c.8761C>T (p.Pro2921Ser) c.6358C>T (p.Pro2120Ser) | ClinVar |
2 | g.237336336G>C | CA351191657 | COL6A3 | c.1409C>G c.8146C>G (p.Pro2716Ala) c.891C>G n.1031C>G c.8764C>G (p.Pro2922Ala) c.6940C>G (p.Pro2314Ala) c.6943C>G (p.Pro2315Ala) n.5206C>G c.8164C>G (p.Pro2722Ala) c.7543C>G (p.Pro2515Ala) c.8263C>G (p.Pro2755Ala) c.8761C>G (p.Pro2921Ala) c.6358C>G (p.Pro2120Ala) | |
2 | g.237336336G>T | CA351191656 | COL6A3 | c.1409C>A c.8146C>A (p.Pro2716Thr) c.891C>A n.1031C>A c.8764C>A (p.Pro2922Thr) c.6940C>A (p.Pro2314Thr) c.6943C>A (p.Pro2315Thr) n.5206C>A c.8164C>A (p.Pro2722Thr) c.7543C>A (p.Pro2515Thr) c.8263C>A (p.Pro2755Thr) c.8761C>A (p.Pro2921Thr) c.6358C>A (p.Pro2120Thr) | |
2 | g.237336336_237336346del | CA2663792159 | COL6A3 | c.1399_1409del c.8136_8146del (p.Ala2713CysfsTer9) c.881_891del n.1021_1031del c.8754_8764del (p.Ala2919CysfsTer9) c.6930_6940del (p.Ala2311CysfsTer9) c.6933_6943del (p.Ala2312CysfsTer9) n.5196_5206del c.8154_8164del (p.Ala2719CysfsTer9) c.7533_7543del (p.Ala2512CysfsTer9) c.8253_8263del (p.Ala2752CysfsTer9) c.8751_8761del (p.Ala2918CysfsTer9) c.6348_6358del (p.Ala2117CysfsTer9) | gnomAD v4 |
2 | g.237336337C>A | CA351191658 | COL6A3 | c.1408G>T c.8145G>T (p.Lys2715Asn) c.890G>T n.1030G>T c.8763G>T (p.Lys2921Asn) c.6939G>T (p.Lys2313Asn) c.6942G>T (p.Lys2314Asn) n.5205G>T c.8163G>T (p.Lys2721Asn) c.7542G>T (p.Lys2514Asn) c.8262G>T (p.Lys2754Asn) c.8760G>T (p.Lys2920Asn) c.6357G>T (p.Lys2119Asn) | gnomAD v4 |
2 | g.237336337C= | CA1337607142 | COL6A3 | c.1408G= c.8145G= (p.Lys2715=) c.890G= n.1030G= c.8763G= (p.Lys2921=) c.6939G= (p.Lys2313=) c.6942G= (p.Lys2314=) n.5205G= c.8163G= (p.Lys2721=) c.7542G= (p.Lys2514=) c.8262G= (p.Lys2754=) c.8760G= (p.Lys2920=) c.6357G= (p.Lys2119=) | |
2 | g.237336337C>G | CA351191659 | COL6A3 | c.1408G>C c.8145G>C (p.Lys2715Asn) c.890G>C n.1030G>C c.8763G>C (p.Lys2921Asn) c.6939G>C (p.Lys2313Asn) c.6942G>C (p.Lys2314Asn) n.5205G>C c.8163G>C (p.Lys2721Asn) c.7542G>C (p.Lys2514Asn) c.8262G>C (p.Lys2754Asn) c.8760G>C (p.Lys2920Asn) c.6357G>C (p.Lys2119Asn) | |
2 | g.237336337C>T | CA431701918 | COL6A3 | c.1408G>A c.8145G>A (p.Lys2715=) c.890G>A n.1030G>A c.8763G>A (p.Lys2921=) c.6939G>A (p.Lys2313=) c.6942G>A (p.Lys2314=) n.5205G>A c.8163G>A (p.Lys2721=) c.7542G>A (p.Lys2514=) c.8262G>A (p.Lys2754=) c.8760G>A (p.Lys2920=) c.6357G>A (p.Lys2119=) | dbSNP |
2 | g.237336338T>A | CA351191661 | COL6A3 | c.1407A>T c.8144A>T (p.Lys2715Met) c.889A>T n.1029A>T c.8762A>T (p.Lys2921Met) c.6938A>T (p.Lys2313Met) c.6941A>T (p.Lys2314Met) n.5204A>T c.8162A>T (p.Lys2721Met) c.7541A>T (p.Lys2514Met) c.8261A>T (p.Lys2754Met) c.8759A>T (p.Lys2920Met) c.6356A>T (p.Lys2119Met) | |
2 | g.237336338T>C | CA351191663 | COL6A3 | c.1407A>G c.8144A>G (p.Lys2715Arg) c.889A>G n.1029A>G c.8762A>G (p.Lys2921Arg) c.6938A>G (p.Lys2313Arg) c.6941A>G (p.Lys2314Arg) n.5204A>G c.8162A>G (p.Lys2721Arg) c.7541A>G (p.Lys2514Arg) c.8261A>G (p.Lys2754Arg) c.8759A>G (p.Lys2920Arg) c.6356A>G (p.Lys2119Arg) | gnomAD v4 |
2 | g.237336338T>G | CA351191664 | COL6A3 | c.1407A>C c.8144A>C (p.Lys2715Thr) c.889A>C n.1029A>C c.8762A>C (p.Lys2921Thr) c.6938A>C (p.Lys2313Thr) c.6941A>C (p.Lys2314Thr) n.5204A>C c.8162A>C (p.Lys2721Thr) c.7541A>C (p.Lys2514Thr) c.8261A>C (p.Lys2754Thr) c.8759A>C (p.Lys2920Thr) c.6356A>C (p.Lys2119Thr) | |
2 | g.237336339dup | CA540749777 | COL6A3 | c.1407dup c.8144dup (p.Pro2716AlafsTer10) c.889dup n.1029dup c.8762dup (p.Pro2922AlafsTer10) c.6938dup (p.Pro2314AlafsTer10) c.6941dup (p.Pro2315AlafsTer10) n.5204dup c.8162dup (p.Pro2722AlafsTer10) c.7541dup (p.Pro2515AlafsTer10) c.8261dup (p.Pro2755AlafsTer10) c.8759dup (p.Pro2921AlafsTer10) c.6356dup (p.Pro2120AlafsTer10) | dbSNP gnomAD v2 |
2 | g.237336339T>A | CA351191665 | COL6A3 | c.1406A>T c.8143A>T (p.Lys2715Ter) c.888A>T n.1028A>T c.8761A>T (p.Lys2921Ter) c.6937A>T (p.Lys2313Ter) c.6940A>T (p.Lys2314Ter) n.5203A>T c.8161A>T (p.Lys2721Ter) c.7540A>T (p.Lys2514Ter) c.8260A>T (p.Lys2754Ter) c.8758A>T (p.Lys2920Ter) c.6355A>T (p.Lys2119Ter) | |
2 | g.237336339T>C | CA351191666 | COL6A3 | c.1406A>G c.8143A>G (p.Lys2715Glu) c.888A>G n.1028A>G c.8761A>G (p.Lys2921Glu) c.6937A>G (p.Lys2313Glu) c.6940A>G (p.Lys2314Glu) n.5203A>G c.8161A>G (p.Lys2721Glu) c.7540A>G (p.Lys2514Glu) c.8260A>G (p.Lys2754Glu) c.8758A>G (p.Lys2920Glu) c.6355A>G (p.Lys2119Glu) | gnomAD v4 |
2 | g.237336339T>G | CA351191667 | COL6A3 | c.1406A>C c.8143A>C (p.Lys2715Gln) c.888A>C n.1028A>C c.8761A>C (p.Lys2921Gln) c.6937A>C (p.Lys2313Gln) c.6940A>C (p.Lys2314Gln) n.5203A>C c.8161A>C (p.Lys2721Gln) c.7540A>C (p.Lys2514Gln) c.8260A>C (p.Lys2754Gln) c.8758A>C (p.Lys2920Gln) c.6355A>C (p.Lys2119Gln) | dbSNP |
2 | g.237336339T= | CA1337607143 | COL6A3 | c.1406A= c.8143A= (p.Lys2715=) c.888A= n.1028A= c.8761A= (p.Lys2921=) c.6937A= (p.Lys2313=) c.6940A= (p.Lys2314=) n.5203A= c.8161A= (p.Lys2721=) c.7540A= (p.Lys2514=) c.8260A= (p.Lys2754=) c.8758A= (p.Lys2920=) c.6355A= (p.Lys2119=) | |
2 | g.237336340G>A | CA431701964 | COL6A3 | c.1405C>T c.8142C>T (p.Ala2714=) c.887C>T n.1027C>T c.8760C>T (p.Ala2920=) c.6936C>T (p.Ala2312=) c.6939C>T (p.Ala2313=) n.5202C>T c.8160C>T (p.Ala2720=) c.7539C>T (p.Ala2513=) c.8259C>T (p.Ala2753=) c.8757C>T (p.Ala2919=) c.6354C>T (p.Ala2118=) | |
2 | g.237336340G>C | CA431701958 | COL6A3 | c.1405C>G c.8142C>G (p.Ala2714=) c.887C>G n.1027C>G c.8760C>G (p.Ala2920=) c.6936C>G (p.Ala2312=) c.6939C>G (p.Ala2313=) n.5202C>G c.8160C>G (p.Ala2720=) c.7539C>G (p.Ala2513=) c.8259C>G (p.Ala2753=) c.8757C>G (p.Ala2919=) c.6354C>G (p.Ala2118=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336340G= | CA1337607144 | COL6A3 | c.1405C= c.8142C= (p.Ala2714=) c.887C= n.1027C= c.8760C= (p.Ala2920=) c.6936C= (p.Ala2312=) c.6939C= (p.Ala2313=) n.5202C= c.8160C= (p.Ala2720=) c.7539C= (p.Ala2513=) c.8259C= (p.Ala2753=) c.8757C= (p.Ala2919=) c.6354C= (p.Ala2118=) | |
2 | g.237336340G>T | CA2187448 | COL6A3 | c.1405C>A c.8142C>A (p.Ala2714=) c.887C>A n.1027C>A c.8760C>A (p.Ala2920=) c.6936C>A (p.Ala2312=) c.6939C>A (p.Ala2313=) n.5202C>A c.8160C>A (p.Ala2720=) c.7539C>A (p.Ala2513=) c.8259C>A (p.Ala2753=) c.8757C>A (p.Ala2919=) c.6354C>A (p.Ala2118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336341G>A | CA351191668 | COL6A3 | c.1404C>T c.8141C>T (p.Ala2714Val) c.886C>T n.1026C>T c.8759C>T (p.Ala2920Val) c.6935C>T (p.Ala2312Val) c.6938C>T (p.Ala2313Val) n.5201C>T c.8159C>T (p.Ala2720Val) c.7538C>T (p.Ala2513Val) c.8258C>T (p.Ala2753Val) c.8756C>T (p.Ala2919Val) c.6353C>T (p.Ala2118Val) | |
2 | g.237336341G>C | CA351191670 | COL6A3 | c.1404C>G c.8141C>G (p.Ala2714Gly) c.886C>G n.1026C>G c.8759C>G (p.Ala2920Gly) c.6935C>G (p.Ala2312Gly) c.6938C>G (p.Ala2313Gly) n.5201C>G c.8159C>G (p.Ala2720Gly) c.7538C>G (p.Ala2513Gly) c.8258C>G (p.Ala2753Gly) c.8756C>G (p.Ala2919Gly) c.6353C>G (p.Ala2118Gly) | dbSNP gnomAD v2 |
2 | g.237336341G= | CA1337607145 | COL6A3 | c.1404C= c.8141C= (p.Ala2714=) c.886C= n.1026C= c.8759C= (p.Ala2920=) c.6935C= (p.Ala2312=) c.6938C= (p.Ala2313=) n.5201C= c.8159C= (p.Ala2720=) c.7538C= (p.Ala2513=) c.8258C= (p.Ala2753=) c.8756C= (p.Ala2919=) c.6353C= (p.Ala2118=) | |
2 | g.237336341G>T | CA351191672 | COL6A3 | c.1404C>A c.8141C>A (p.Ala2714Asp) c.886C>A n.1026C>A c.8759C>A (p.Ala2920Asp) c.6935C>A (p.Ala2312Asp) c.6938C>A (p.Ala2313Asp) n.5201C>A c.8159C>A (p.Ala2720Asp) c.7538C>A (p.Ala2513Asp) c.8258C>A (p.Ala2753Asp) c.8756C>A (p.Ala2919Asp) c.6353C>A (p.Ala2118Asp) | ClinVar dbSNP |
2 | g.237336342C>A | CA351191674 | COL6A3 | c.1403G>T c.8140G>T (p.Ala2714Ser) c.885G>T n.1025G>T c.8758G>T (p.Ala2920Ser) c.6934G>T (p.Ala2312Ser) c.6937G>T (p.Ala2313Ser) n.5200G>T c.8158G>T (p.Ala2720Ser) c.7537G>T (p.Ala2513Ser) c.8257G>T (p.Ala2753Ser) c.8755G>T (p.Ala2919Ser) c.6352G>T (p.Ala2118Ser) | |
2 | g.237336342C= | CA1337607146 | COL6A3 | c.1403G= c.8140G= (p.Ala2714=) c.885G= n.1025G= c.8758G= (p.Ala2920=) c.6934G= (p.Ala2312=) c.6937G= (p.Ala2313=) n.5200G= c.8158G= (p.Ala2720=) c.7537G= (p.Ala2513=) c.8257G= (p.Ala2753=) c.8755G= (p.Ala2919=) c.6352G= (p.Ala2118=) | |
2 | g.237336342C>G | CA351191678 | COL6A3 | c.1403G>C c.8140G>C (p.Ala2714Pro) c.885G>C n.1025G>C c.8758G>C (p.Ala2920Pro) c.6934G>C (p.Ala2312Pro) c.6937G>C (p.Ala2313Pro) n.5200G>C c.8158G>C (p.Ala2720Pro) c.7537G>C (p.Ala2513Pro) c.8257G>C (p.Ala2753Pro) c.8755G>C (p.Ala2919Pro) c.6352G>C (p.Ala2118Pro) | dbSNP gnomAD v2 |
2 | g.237336342C>T | CA351191679 | COL6A3 | c.1403G>A c.8140G>A (p.Ala2714Thr) c.885G>A n.1025G>A c.8758G>A (p.Ala2920Thr) c.6934G>A (p.Ala2312Thr) c.6937G>A (p.Ala2313Thr) n.5200G>A c.8158G>A (p.Ala2720Thr) c.7537G>A (p.Ala2513Thr) c.8257G>A (p.Ala2753Thr) c.8755G>A (p.Ala2919Thr) c.6352G>A (p.Ala2118Thr) | |
2 | g.237336343A>C | CA431701986 | COL6A3 | c.1402T>G c.8139T>G (p.Ala2713=) c.884T>G n.1024T>G c.8757T>G (p.Ala2919=) c.6933T>G (p.Ala2311=) c.6936T>G (p.Ala2312=) n.5199T>G c.8157T>G (p.Ala2719=) c.7536T>G (p.Ala2512=) c.8256T>G (p.Ala2752=) c.8754T>G (p.Ala2918=) c.6351T>G (p.Ala2117=) | |
2 | g.237336343A>G | CA431701988 | COL6A3 | c.1402T>C c.8139T>C (p.Ala2713=) c.884T>C n.1024T>C c.8757T>C (p.Ala2919=) c.6933T>C (p.Ala2311=) c.6936T>C (p.Ala2312=) n.5199T>C c.8157T>C (p.Ala2719=) c.7536T>C (p.Ala2512=) c.8256T>C (p.Ala2752=) c.8754T>C (p.Ala2918=) c.6351T>C (p.Ala2117=) | |
2 | g.237336343A>T | CA431701991 | COL6A3 | c.1402T>A c.8139T>A (p.Ala2713=) c.884T>A n.1024T>A c.8757T>A (p.Ala2919=) c.6933T>A (p.Ala2311=) c.6936T>A (p.Ala2312=) n.5199T>A c.8157T>A (p.Ala2719=) c.7536T>A (p.Ala2512=) c.8256T>A (p.Ala2752=) c.8754T>A (p.Ala2918=) c.6351T>A (p.Ala2117=) | |
2 | g.237336344G>A | CA351191680 | COL6A3 | c.1401C>T c.8138C>T (p.Ala2713Val) c.883C>T n.1023C>T c.8756C>T (p.Ala2919Val) c.6932C>T (p.Ala2311Val) c.6935C>T (p.Ala2312Val) n.5198C>T c.8156C>T (p.Ala2719Val) c.7535C>T (p.Ala2512Val) c.8255C>T (p.Ala2752Val) c.8753C>T (p.Ala2918Val) c.6350C>T (p.Ala2117Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336344G>C | CA351191682 | COL6A3 | c.1401C>G c.8138C>G (p.Ala2713Gly) c.883C>G n.1023C>G c.8756C>G (p.Ala2919Gly) c.6932C>G (p.Ala2311Gly) c.6935C>G (p.Ala2312Gly) n.5198C>G c.8156C>G (p.Ala2719Gly) c.7535C>G (p.Ala2512Gly) c.8255C>G (p.Ala2752Gly) c.8753C>G (p.Ala2918Gly) c.6350C>G (p.Ala2117Gly) | |
2 | g.237336344G= | CA1337607147 | COL6A3 | c.1401C= c.8138C= (p.Ala2713=) c.883C= n.1023C= c.8756C= (p.Ala2919=) c.6932C= (p.Ala2311=) c.6935C= (p.Ala2312=) n.5198C= c.8156C= (p.Ala2719=) c.7535C= (p.Ala2512=) c.8255C= (p.Ala2752=) c.8753C= (p.Ala2918=) c.6350C= (p.Ala2117=) | |
2 | g.237336344G>T | CA351191681 | COL6A3 | c.1401C>A c.8138C>A (p.Ala2713Asp) c.883C>A n.1023C>A c.8756C>A (p.Ala2919Asp) c.6932C>A (p.Ala2311Asp) c.6935C>A (p.Ala2312Asp) n.5198C>A c.8156C>A (p.Ala2719Asp) c.7535C>A (p.Ala2512Asp) c.8255C>A (p.Ala2752Asp) c.8753C>A (p.Ala2918Asp) c.6350C>A (p.Ala2117Asp) | |
2 | g.237336345C>A | CA351191683 | COL6A3 | c.1400G>T c.8137G>T (p.Ala2713Ser) c.882G>T n.1022G>T c.8755G>T (p.Ala2919Ser) c.6931G>T (p.Ala2311Ser) c.6934G>T (p.Ala2312Ser) n.5197G>T c.8155G>T (p.Ala2719Ser) c.7534G>T (p.Ala2512Ser) c.8254G>T (p.Ala2752Ser) c.8752G>T (p.Ala2918Ser) c.6349G>T (p.Ala2117Ser) | |
2 | g.237336345C>G | CA351191685 | COL6A3 | c.1400G>C c.8137G>C (p.Ala2713Pro) c.882G>C n.1022G>C c.8755G>C (p.Ala2919Pro) c.6931G>C (p.Ala2311Pro) c.6934G>C (p.Ala2312Pro) n.5197G>C c.8155G>C (p.Ala2719Pro) c.7534G>C (p.Ala2512Pro) c.8254G>C (p.Ala2752Pro) c.8752G>C (p.Ala2918Pro) c.6349G>C (p.Ala2117Pro) | |
2 | g.237336345C>T | CA351191686 | COL6A3 | c.1400G>A c.8137G>A (p.Ala2713Thr) c.882G>A n.1022G>A c.8755G>A (p.Ala2919Thr) c.6931G>A (p.Ala2311Thr) c.6934G>A (p.Ala2312Thr) n.5197G>A c.8155G>A (p.Ala2719Thr) c.7534G>A (p.Ala2512Thr) c.8254G>A (p.Ala2752Thr) c.8752G>A (p.Ala2918Thr) c.6349G>A (p.Ala2117Thr) | dbSNP gnomAD v4 |
2 | g.237336346C>A | CA431702009 | COL6A3 | c.1399G>T c.8136G>T (p.Val2712=) c.881G>T n.1021G>T c.8754G>T (p.Val2918=) c.6930G>T (p.Val2310=) c.6933G>T (p.Val2311=) n.5196G>T c.8154G>T (p.Val2718=) c.7533G>T (p.Val2511=) c.8253G>T (p.Val2751=) c.8751G>T (p.Val2917=) c.6348G>T (p.Val2116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336346C= | CA1337607148 | COL6A3 | c.1399G= c.8136G= (p.Val2712=) c.881G= n.1021G= c.8754G= (p.Val2918=) c.6930G= (p.Val2310=) c.6933G= (p.Val2311=) n.5196G= c.8154G= (p.Val2718=) c.7533G= (p.Val2511=) c.8253G= (p.Val2751=) c.8751G= (p.Val2917=) c.6348G= (p.Val2116=) | |
2 | g.237336346C>G | CA431702012 | COL6A3 | c.1399G>C c.8136G>C (p.Val2712=) c.881G>C n.1021G>C c.8754G>C (p.Val2918=) c.6930G>C (p.Val2310=) c.6933G>C (p.Val2311=) n.5196G>C c.8154G>C (p.Val2718=) c.7533G>C (p.Val2511=) c.8253G>C (p.Val2751=) c.8751G>C (p.Val2917=) c.6348G>C (p.Val2116=) | |
2 | g.237336346C>T | CA431702016 | COL6A3 | c.1399G>A c.8136G>A (p.Val2712=) c.881G>A n.1021G>A c.8754G>A (p.Val2918=) c.6930G>A (p.Val2310=) c.6933G>A (p.Val2311=) n.5196G>A c.8154G>A (p.Val2718=) c.7533G>A (p.Val2511=) c.8253G>A (p.Val2751=) c.8751G>A (p.Val2917=) c.6348G>A (p.Val2116=) | ClinVar dbSNP |
2 | g.237336347A>C | CA351191688 | COL6A3 | c.1398T>G c.8135T>G (p.Val2712Gly) c.880T>G n.1020T>G c.8753T>G (p.Val2918Gly) c.6929T>G (p.Val2310Gly) c.6932T>G (p.Val2311Gly) n.5195T>G c.8153T>G (p.Val2718Gly) c.7532T>G (p.Val2511Gly) c.8252T>G (p.Val2751Gly) c.8750T>G (p.Val2917Gly) c.6347T>G (p.Val2116Gly) | |
2 | g.237336347A>G | CA351191690 | COL6A3 | c.1398T>C c.8135T>C (p.Val2712Ala) c.880T>C n.1020T>C c.8753T>C (p.Val2918Ala) c.6929T>C (p.Val2310Ala) c.6932T>C (p.Val2311Ala) n.5195T>C c.8153T>C (p.Val2718Ala) c.7532T>C (p.Val2511Ala) c.8252T>C (p.Val2751Ala) c.8750T>C (p.Val2917Ala) c.6347T>C (p.Val2116Ala) | |
2 | g.237336347A>T | CA351191692 | COL6A3 | c.1398T>A c.8135T>A (p.Val2712Glu) c.880T>A n.1020T>A c.8753T>A (p.Val2918Glu) c.6929T>A (p.Val2310Glu) c.6932T>A (p.Val2311Glu) n.5195T>A c.8153T>A (p.Val2718Glu) c.7532T>A (p.Val2511Glu) c.8252T>A (p.Val2751Glu) c.8750T>A (p.Val2917Glu) c.6347T>A (p.Val2116Glu) | gnomAD v4 |
2 | g.237336348C>A | CA351191694 | COL6A3 | c.1397G>T c.8134G>T (p.Val2712Leu) c.879G>T n.1019G>T c.8752G>T (p.Val2918Leu) c.6928G>T (p.Val2310Leu) c.6931G>T (p.Val2311Leu) n.5194G>T c.8152G>T (p.Val2718Leu) c.7531G>T (p.Val2511Leu) c.8251G>T (p.Val2751Leu) c.8749G>T (p.Val2917Leu) c.6346G>T (p.Val2116Leu) | |
2 | g.237336348C>G | CA351191696 | COL6A3 | c.1397G>C c.8134G>C (p.Val2712Leu) c.879G>C n.1019G>C c.8752G>C (p.Val2918Leu) c.6928G>C (p.Val2310Leu) c.6931G>C (p.Val2311Leu) n.5194G>C c.8152G>C (p.Val2718Leu) c.7531G>C (p.Val2511Leu) c.8251G>C (p.Val2751Leu) c.8749G>C (p.Val2917Leu) c.6346G>C (p.Val2116Leu) | |
2 | g.237336348C>T | CA351191698 | COL6A3 | c.1397G>A c.8134G>A (p.Val2712Met) c.879G>A n.1019G>A c.8752G>A (p.Val2918Met) c.6928G>A (p.Val2310Met) c.6931G>A (p.Val2311Met) n.5194G>A c.8152G>A (p.Val2718Met) c.7531G>A (p.Val2511Met) c.8251G>A (p.Val2751Met) c.8749G>A (p.Val2917Met) c.6346G>A (p.Val2116Met) | gnomAD v4 |
2 | g.237336349A>C | CA431702046 | COL6A3 | c.1396T>G c.8133T>G (p.Pro2711=) c.878T>G n.1018T>G c.8751T>G (p.Pro2917=) c.6927T>G (p.Pro2309=) c.6930T>G (p.Pro2310=) n.5193T>G c.8151T>G (p.Pro2717=) c.7530T>G (p.Pro2510=) c.8250T>G (p.Pro2750=) c.8748T>G (p.Pro2916=) c.6345T>G (p.Pro2115=) | |
2 | g.237336349A>G | CA431702049 | COL6A3 | c.1396T>C c.8133T>C (p.Pro2711=) c.878T>C n.1018T>C c.8751T>C (p.Pro2917=) c.6927T>C (p.Pro2309=) c.6930T>C (p.Pro2310=) n.5193T>C c.8151T>C (p.Pro2717=) c.7530T>C (p.Pro2510=) c.8250T>C (p.Pro2750=) c.8748T>C (p.Pro2916=) c.6345T>C (p.Pro2115=) | |
2 | g.237336349A>T | CA431702054 | COL6A3 | c.1396T>A c.8133T>A (p.Pro2711=) c.878T>A n.1018T>A c.8751T>A (p.Pro2917=) c.6927T>A (p.Pro2309=) c.6930T>A (p.Pro2310=) n.5193T>A c.8151T>A (p.Pro2717=) c.7530T>A (p.Pro2510=) c.8250T>A (p.Pro2750=) c.8748T>A (p.Pro2916=) c.6345T>A (p.Pro2115=) | |
2 | g.237336350G>A | CA351191700 | COL6A3 | c.1395C>T c.8132C>T (p.Pro2711Leu) c.877C>T n.1017C>T c.8750C>T (p.Pro2917Leu) c.6926C>T (p.Pro2309Leu) c.6929C>T (p.Pro2310Leu) n.5192C>T c.8150C>T (p.Pro2717Leu) c.7529C>T (p.Pro2510Leu) c.8249C>T (p.Pro2750Leu) c.8747C>T (p.Pro2916Leu) c.6344C>T (p.Pro2115Leu) | |
2 | g.237336350G>C | CA351191702 | COL6A3 | c.1395C>G c.8132C>G (p.Pro2711Arg) c.877C>G n.1017C>G c.8750C>G (p.Pro2917Arg) c.6926C>G (p.Pro2309Arg) c.6929C>G (p.Pro2310Arg) n.5192C>G c.8150C>G (p.Pro2717Arg) c.7529C>G (p.Pro2510Arg) c.8249C>G (p.Pro2750Arg) c.8747C>G (p.Pro2916Arg) c.6344C>G (p.Pro2115Arg) | |
2 | g.237336350G= | CA1337607149 | COL6A3 | c.1395C= c.8132C= (p.Pro2711=) c.877C= n.1017C= c.8750C= (p.Pro2917=) c.6926C= (p.Pro2309=) c.6929C= (p.Pro2310=) n.5192C= c.8150C= (p.Pro2717=) c.7529C= (p.Pro2510=) c.8249C= (p.Pro2750=) c.8747C= (p.Pro2916=) c.6344C= (p.Pro2115=) | |
2 | g.237336350G>T | CA351191703 | COL6A3 | c.1395C>A c.8132C>A (p.Pro2711His) c.877C>A n.1017C>A c.8750C>A (p.Pro2917His) c.6926C>A (p.Pro2309His) c.6929C>A (p.Pro2310His) n.5192C>A c.8150C>A (p.Pro2717His) c.7529C>A (p.Pro2510His) c.8249C>A (p.Pro2750His) c.8747C>A (p.Pro2916His) c.6344C>A (p.Pro2115His) | ClinVar dbSNP |
2 | g.237336351G>A | CA2187449 | COL6A3 | c.1394C>T c.8131C>T (p.Pro2711Ser) c.876C>T n.1016C>T c.8749C>T (p.Pro2917Ser) c.6925C>T (p.Pro2309Ser) c.6928C>T (p.Pro2310Ser) n.5191C>T c.8149C>T (p.Pro2717Ser) c.7528C>T (p.Pro2510Ser) c.8248C>T (p.Pro2750Ser) c.8746C>T (p.Pro2916Ser) c.6343C>T (p.Pro2115Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336351G>C | CA351191711 | COL6A3 | c.1394C>G c.8131C>G (p.Pro2711Ala) c.876C>G n.1016C>G c.8749C>G (p.Pro2917Ala) c.6925C>G (p.Pro2309Ala) c.6928C>G (p.Pro2310Ala) n.5191C>G c.8149C>G (p.Pro2717Ala) c.7528C>G (p.Pro2510Ala) c.8248C>G (p.Pro2750Ala) c.8746C>G (p.Pro2916Ala) c.6343C>G (p.Pro2115Ala) | |
2 | g.237336351G= | CA1337607150 | COL6A3 | c.1394C= c.8131C= (p.Pro2711=) c.876C= n.1016C= c.8749C= (p.Pro2917=) c.6925C= (p.Pro2309=) c.6928C= (p.Pro2310=) n.5191C= c.8149C= (p.Pro2717=) c.7528C= (p.Pro2510=) c.8248C= (p.Pro2750=) c.8746C= (p.Pro2916=) c.6343C= (p.Pro2115=) | |
2 | g.237336351G>T | CA351191709 | COL6A3 | c.1394C>A c.8131C>A (p.Pro2711Thr) c.876C>A n.1016C>A c.8749C>A (p.Pro2917Thr) c.6925C>A (p.Pro2309Thr) c.6928C>A (p.Pro2310Thr) n.5191C>A c.8149C>A (p.Pro2717Thr) c.7528C>A (p.Pro2510Thr) c.8248C>A (p.Pro2750Thr) c.8746C>A (p.Pro2916Thr) c.6343C>A (p.Pro2115Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336352T>A | CA351191712 | COL6A3 | c.1393A>T c.8130A>T (p.Lys2710Asn) c.875A>T n.1015A>T c.8748A>T (p.Lys2916Asn) c.6924A>T (p.Lys2308Asn) c.6927A>T (p.Lys2309Asn) n.5190A>T c.8148A>T (p.Lys2716Asn) c.7527A>T (p.Lys2509Asn) c.8247A>T (p.Lys2749Asn) c.8745A>T (p.Lys2915Asn) c.6342A>T (p.Lys2114Asn) | gnomAD v4 |
2 | g.237336352T>C | CA431702063 | COL6A3 | c.1393A>G c.8130A>G (p.Lys2710=) c.875A>G n.1015A>G c.8748A>G (p.Lys2916=) c.6924A>G (p.Lys2308=) c.6927A>G (p.Lys2309=) n.5190A>G c.8148A>G (p.Lys2716=) c.7527A>G (p.Lys2509=) c.8247A>G (p.Lys2749=) c.8745A>G (p.Lys2915=) c.6342A>G (p.Lys2114=) | |
2 | g.237336352T>G | CA2187450 | COL6A3 | c.1393A>C c.8130A>C (p.Lys2710Asn) c.875A>C n.1015A>C c.8748A>C (p.Lys2916Asn) c.6924A>C (p.Lys2308Asn) c.6927A>C (p.Lys2309Asn) n.5190A>C c.8148A>C (p.Lys2716Asn) c.7527A>C (p.Lys2509Asn) c.8247A>C (p.Lys2749Asn) c.8745A>C (p.Lys2915Asn) c.6342A>C (p.Lys2114Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336352T= | CA1337607151 | COL6A3 | c.1393A= c.8130A= (p.Lys2710=) c.875A= n.1015A= c.8748A= (p.Lys2916=) c.6924A= (p.Lys2308=) c.6927A= (p.Lys2309=) n.5190A= c.8148A= (p.Lys2716=) c.7527A= (p.Lys2509=) c.8247A= (p.Lys2749=) c.8745A= (p.Lys2915=) c.6342A= (p.Lys2114=) | |
2 | g.237336353T>A | CA351191715 | COL6A3 | c.1392A>T c.8129A>T (p.Lys2710Ile) c.874A>T n.1014A>T c.8747A>T (p.Lys2916Ile) c.6923A>T (p.Lys2308Ile) c.6926A>T (p.Lys2309Ile) n.5189A>T c.8147A>T (p.Lys2716Ile) c.7526A>T (p.Lys2509Ile) c.8246A>T (p.Lys2749Ile) c.8744A>T (p.Lys2915Ile) c.6341A>T (p.Lys2114Ile) | |
2 | g.237336353T>C | CA351191716 | COL6A3 | c.1392A>G c.8129A>G (p.Lys2710Arg) c.874A>G n.1014A>G c.8747A>G (p.Lys2916Arg) c.6923A>G (p.Lys2308Arg) c.6926A>G (p.Lys2309Arg) n.5189A>G c.8147A>G (p.Lys2716Arg) c.7526A>G (p.Lys2509Arg) c.8246A>G (p.Lys2749Arg) c.8744A>G (p.Lys2915Arg) c.6341A>G (p.Lys2114Arg) | |
2 | g.237336353T>G | CA351191717 | COL6A3 | c.1392A>C c.8129A>C (p.Lys2710Thr) c.874A>C n.1014A>C c.8747A>C (p.Lys2916Thr) c.6923A>C (p.Lys2308Thr) c.6926A>C (p.Lys2309Thr) n.5189A>C c.8147A>C (p.Lys2716Thr) c.7526A>C (p.Lys2509Thr) c.8246A>C (p.Lys2749Thr) c.8744A>C (p.Lys2915Thr) c.6341A>C (p.Lys2114Thr) | |
2 | g.237336354T>A | CA351191718 | COL6A3 | c.1391A>T c.8128A>T (p.Lys2710Ter) c.873A>T n.1013A>T c.8746A>T (p.Lys2916Ter) c.6922A>T (p.Lys2308Ter) c.6925A>T (p.Lys2309Ter) n.5188A>T c.8146A>T (p.Lys2716Ter) c.7525A>T (p.Lys2509Ter) c.8245A>T (p.Lys2749Ter) c.8743A>T (p.Lys2915Ter) c.6340A>T (p.Lys2114Ter) | |
2 | g.237336354T>C | CA351191719 | COL6A3 | c.1391A>G c.8128A>G (p.Lys2710Glu) c.873A>G n.1013A>G c.8746A>G (p.Lys2916Glu) c.6922A>G (p.Lys2308Glu) c.6925A>G (p.Lys2309Glu) n.5188A>G c.8146A>G (p.Lys2716Glu) c.7525A>G (p.Lys2509Glu) c.8245A>G (p.Lys2749Glu) c.8743A>G (p.Lys2915Glu) c.6340A>G (p.Lys2114Glu) | COSMIC |
2 | g.237336354T>G | CA351191722 | COL6A3 | c.1391A>C c.8128A>C (p.Lys2710Gln) c.873A>C n.1013A>C c.8746A>C (p.Lys2916Gln) c.6922A>C (p.Lys2308Gln) c.6925A>C (p.Lys2309Gln) n.5188A>C c.8146A>C (p.Lys2716Gln) c.7525A>C (p.Lys2509Gln) c.8245A>C (p.Lys2749Gln) c.8743A>C (p.Lys2915Gln) c.6340A>C (p.Lys2114Gln) | |
2 | g.237336355C>A | CA431702076 | COL6A3 | c.1390G>T c.8127G>T (p.Ala2709=) c.872G>T n.1012G>T c.8745G>T (p.Ala2915=) c.6921G>T (p.Ala2307=) c.6924G>T (p.Ala2308=) n.5187G>T c.8145G>T (p.Ala2715=) c.7524G>T (p.Ala2508=) c.8244G>T (p.Ala2748=) c.8742G>T (p.Ala2914=) c.6339G>T (p.Ala2113=) | dbSNP |
2 | g.237336355C= | CA1337607152 | COL6A3 | c.1390G= c.8127G= (p.Ala2709=) c.872G= n.1012G= c.8745G= (p.Ala2915=) c.6921G= (p.Ala2307=) c.6924G= (p.Ala2308=) n.5187G= c.8145G= (p.Ala2715=) c.7524G= (p.Ala2508=) c.8244G= (p.Ala2748=) c.8742G= (p.Ala2914=) c.6339G= (p.Ala2113=) | |
2 | g.237336355C>G | CA431702078 | COL6A3 | c.1390G>C c.8127G>C (p.Ala2709=) c.872G>C n.1012G>C c.8745G>C (p.Ala2915=) c.6921G>C (p.Ala2307=) c.6924G>C (p.Ala2308=) n.5187G>C c.8145G>C (p.Ala2715=) c.7524G>C (p.Ala2508=) c.8244G>C (p.Ala2748=) c.8742G>C (p.Ala2914=) c.6339G>C (p.Ala2113=) | |
2 | g.237336355C>T | CA202878 | COL6A3 | c.1390G>A c.8127G>A (p.Ala2709=) c.872G>A n.1012G>A c.8745G>A (p.Ala2915=) c.6921G>A (p.Ala2307=) c.6924G>A (p.Ala2308=) n.5187G>A c.8145G>A (p.Ala2715=) c.7524G>A (p.Ala2508=) c.8244G>A (p.Ala2748=) c.8742G>A (p.Ala2914=) c.6339G>A (p.Ala2113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336356G>A | CA2187451 | COL6A3 | c.1389C>T c.8126C>T (p.Ala2709Val) c.871C>T n.1011C>T c.8744C>T (p.Ala2915Val) c.6920C>T (p.Ala2307Val) c.6923C>T (p.Ala2308Val) n.5186C>T c.8144C>T (p.Ala2715Val) c.7523C>T (p.Ala2508Val) c.8243C>T (p.Ala2748Val) c.8741C>T (p.Ala2914Val) c.6338C>T (p.Ala2113Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237336356G>C | CA351191728 | COL6A3 | c.1389C>G c.8126C>G (p.Ala2709Gly) c.871C>G n.1011C>G c.8744C>G (p.Ala2915Gly) c.6920C>G (p.Ala2307Gly) c.6923C>G (p.Ala2308Gly) n.5186C>G c.8144C>G (p.Ala2715Gly) c.7523C>G (p.Ala2508Gly) c.8243C>G (p.Ala2748Gly) c.8741C>G (p.Ala2914Gly) c.6338C>G (p.Ala2113Gly) | |
2 | g.237336356G= | CA1337607153 | COL6A3 | c.1389C= c.8126C= (p.Ala2709=) c.871C= n.1011C= c.8744C= (p.Ala2915=) c.6920C= (p.Ala2307=) c.6923C= (p.Ala2308=) n.5186C= c.8144C= (p.Ala2715=) c.7523C= (p.Ala2508=) c.8243C= (p.Ala2748=) c.8741C= (p.Ala2914=) c.6338C= (p.Ala2113=) | |
2 | g.237336356G>T | CA351191731 | COL6A3 | c.1389C>A c.8126C>A (p.Ala2709Glu) c.871C>A n.1011C>A c.8744C>A (p.Ala2915Glu) c.6920C>A (p.Ala2307Glu) c.6923C>A (p.Ala2308Glu) n.5186C>A c.8144C>A (p.Ala2715Glu) c.7523C>A (p.Ala2508Glu) c.8243C>A (p.Ala2748Glu) c.8741C>A (p.Ala2914Glu) c.6338C>A (p.Ala2113Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336360_237336374del | CA2663792160 | COL6A3 | c.1375_1389del c.8112_8126del (p.Lys2705_Ala2709del) c.857_871del n.997_1011del c.8730_8744del (p.Lys2911_Ala2915del) c.6906_6920del (p.Lys2303_Ala2307del) c.6909_6923del (p.Lys2304_Ala2308del) n.5172_5186del c.8130_8144del (p.Lys2711_Ala2715del) c.7509_7523del (p.Lys2504_Ala2508del) c.8229_8243del (p.Lys2744_Ala2748del) c.8727_8741del (p.Lys2910_Ala2914del) c.6324_6338del (p.Lys2109_Ala2113del) | gnomAD v4 |
2 | g.237336357C>A | CA351191735 | COL6A3 | c.1388G>T c.8125G>T (p.Ala2709Ser) c.870G>T n.1010G>T c.8743G>T (p.Ala2915Ser) c.6919G>T (p.Ala2307Ser) c.6922G>T (p.Ala2308Ser) n.5185G>T c.8143G>T (p.Ala2715Ser) c.7522G>T (p.Ala2508Ser) c.8242G>T (p.Ala2748Ser) c.8740G>T (p.Ala2914Ser) c.6337G>T (p.Ala2113Ser) | |
2 | g.237336357C= | CA1337607154 | COL6A3 | c.1388G= c.8125G= (p.Ala2709=) c.870G= n.1010G= c.8743G= (p.Ala2915=) c.6919G= (p.Ala2307=) c.6922G= (p.Ala2308=) n.5185G= c.8143G= (p.Ala2715=) c.7522G= (p.Ala2508=) c.8242G= (p.Ala2748=) c.8740G= (p.Ala2914=) c.6337G= (p.Ala2113=) | |
2 | g.237336357C>G | CA351191734 | COL6A3 | c.1388G>C c.8125G>C (p.Ala2709Pro) c.870G>C n.1010G>C c.8743G>C (p.Ala2915Pro) c.6919G>C (p.Ala2307Pro) c.6922G>C (p.Ala2308Pro) n.5185G>C c.8143G>C (p.Ala2715Pro) c.7522G>C (p.Ala2508Pro) c.8242G>C (p.Ala2748Pro) c.8740G>C (p.Ala2914Pro) c.6337G>C (p.Ala2113Pro) | |
2 | g.237336357C>T | CA2187452 | COL6A3 | c.1388G>A c.8125G>A (p.Ala2709Thr) c.870G>A n.1010G>A c.8743G>A (p.Ala2915Thr) c.6919G>A (p.Ala2307Thr) c.6922G>A (p.Ala2308Thr) n.5185G>A c.8143G>A (p.Ala2715Thr) c.7522G>A (p.Ala2508Thr) c.8242G>A (p.Ala2748Thr) c.8740G>A (p.Ala2914Thr) c.6337G>A (p.Ala2113Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336358A>C | CA431702098 | COL6A3 | c.1387T>G c.8124T>G (p.Pro2708=) c.869T>G n.1009T>G c.8742T>G (p.Pro2914=) c.6918T>G (p.Pro2306=) c.6921T>G (p.Pro2307=) n.5184T>G c.8142T>G (p.Pro2714=) c.7521T>G (p.Pro2507=) c.8241T>G (p.Pro2747=) c.8739T>G (p.Pro2913=) c.6336T>G (p.Pro2112=) | |
2 | g.237336358A>G | CA431702100 | COL6A3 | c.1387T>C c.8124T>C (p.Pro2708=) c.869T>C n.1009T>C c.8742T>C (p.Pro2914=) c.6918T>C (p.Pro2306=) c.6921T>C (p.Pro2307=) n.5184T>C c.8142T>C (p.Pro2714=) c.7521T>C (p.Pro2507=) c.8241T>C (p.Pro2747=) c.8739T>C (p.Pro2913=) c.6336T>C (p.Pro2112=) | |
2 | g.237336358A>T | CA431702102 | COL6A3 | c.1387T>A c.8124T>A (p.Pro2708=) c.869T>A n.1009T>A c.8742T>A (p.Pro2914=) c.6918T>A (p.Pro2306=) c.6921T>A (p.Pro2307=) n.5184T>A c.8142T>A (p.Pro2714=) c.7521T>A (p.Pro2507=) c.8241T>A (p.Pro2747=) c.8739T>A (p.Pro2913=) c.6336T>A (p.Pro2112=) | |
2 | g.237336359G>A | CA2187453 | COL6A3 | c.1386C>T c.8123C>T (p.Pro2708Leu) c.868C>T n.1008C>T c.8741C>T (p.Pro2914Leu) c.6917C>T (p.Pro2306Leu) c.6920C>T (p.Pro2307Leu) n.5183C>T c.8141C>T (p.Pro2714Leu) c.7520C>T (p.Pro2507Leu) c.8240C>T (p.Pro2747Leu) c.8738C>T (p.Pro2913Leu) c.6335C>T (p.Pro2112Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336359G>C | CA351191736 | COL6A3 | c.1386C>G c.8123C>G (p.Pro2708Arg) c.868C>G n.1008C>G c.8741C>G (p.Pro2914Arg) c.6917C>G (p.Pro2306Arg) c.6920C>G (p.Pro2307Arg) n.5183C>G c.8141C>G (p.Pro2714Arg) c.7520C>G (p.Pro2507Arg) c.8240C>G (p.Pro2747Arg) c.8738C>G (p.Pro2913Arg) c.6335C>G (p.Pro2112Arg) | |
2 | g.237336359G= | CA1337607155 | COL6A3 | c.1386C= c.8123C= (p.Pro2708=) c.868C= n.1008C= c.8741C= (p.Pro2914=) c.6917C= (p.Pro2306=) c.6920C= (p.Pro2307=) n.5183C= c.8141C= (p.Pro2714=) c.7520C= (p.Pro2507=) c.8240C= (p.Pro2747=) c.8738C= (p.Pro2913=) c.6335C= (p.Pro2112=) | |
2 | g.237336359G>T | CA351191737 | COL6A3 | c.1386C>A c.8123C>A (p.Pro2708His) c.868C>A n.1008C>A c.8741C>A (p.Pro2914His) c.6917C>A (p.Pro2306His) c.6920C>A (p.Pro2307His) n.5183C>A c.8141C>A (p.Pro2714His) c.7520C>A (p.Pro2507His) c.8240C>A (p.Pro2747His) c.8738C>A (p.Pro2913His) c.6335C>A (p.Pro2112His) | |
2 | g.237336360G>A | CA351191738 | COL6A3 | c.1385C>T c.8122C>T (p.Pro2708Ser) c.867C>T n.1007C>T c.8740C>T (p.Pro2914Ser) c.6916C>T (p.Pro2306Ser) c.6919C>T (p.Pro2307Ser) n.5182C>T c.8140C>T (p.Pro2714Ser) c.7519C>T (p.Pro2507Ser) c.8239C>T (p.Pro2747Ser) c.8737C>T (p.Pro2913Ser) c.6334C>T (p.Pro2112Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336360G>C | CA351191739 | COL6A3 | c.1385C>G c.8122C>G (p.Pro2708Ala) c.867C>G n.1007C>G c.8740C>G (p.Pro2914Ala) c.6916C>G (p.Pro2306Ala) c.6919C>G (p.Pro2307Ala) n.5182C>G c.8140C>G (p.Pro2714Ala) c.7519C>G (p.Pro2507Ala) c.8239C>G (p.Pro2747Ala) c.8737C>G (p.Pro2913Ala) c.6334C>G (p.Pro2112Ala) | |
2 | g.237336360G= | CA1337607156 | COL6A3 | c.1385C= c.8122C= (p.Pro2708=) c.867C= n.1007C= c.8740C= (p.Pro2914=) c.6916C= (p.Pro2306=) c.6919C= (p.Pro2307=) n.5182C= c.8140C= (p.Pro2714=) c.7519C= (p.Pro2507=) c.8239C= (p.Pro2747=) c.8737C= (p.Pro2913=) c.6334C= (p.Pro2112=) | |
2 | g.237336360G>T | CA351191740 | COL6A3 | c.1385C>A c.8122C>A (p.Pro2708Thr) c.867C>A n.1007C>A c.8740C>A (p.Pro2914Thr) c.6916C>A (p.Pro2306Thr) c.6919C>A (p.Pro2307Thr) n.5182C>A c.8140C>A (p.Pro2714Thr) c.7519C>A (p.Pro2507Thr) c.8239C>A (p.Pro2747Thr) c.8737C>A (p.Pro2913Thr) c.6334C>A (p.Pro2112Thr) | |
2 | g.237336361G>A | CA431702114 | COL6A3 | c.1384C>T c.8121C>T (p.Ala2707=) c.866C>T n.1006C>T c.8739C>T (p.Ala2913=) c.6915C>T (p.Ala2305=) c.6918C>T (p.Ala2306=) n.5181C>T c.8139C>T (p.Ala2713=) c.7518C>T (p.Ala2506=) c.8238C>T (p.Ala2746=) c.8736C>T (p.Ala2912=) c.6333C>T (p.Ala2111=) | dbSNP |
2 | g.237336361G>C | CA431702118 | COL6A3 | c.1384C>G c.8121C>G (p.Ala2707=) c.866C>G n.1006C>G c.8739C>G (p.Ala2913=) c.6915C>G (p.Ala2305=) c.6918C>G (p.Ala2306=) n.5181C>G c.8139C>G (p.Ala2713=) c.7518C>G (p.Ala2506=) c.8238C>G (p.Ala2746=) c.8736C>G (p.Ala2912=) c.6333C>G (p.Ala2111=) | |
2 | g.237336361G= | CA1337607157 | COL6A3 | c.1384C= c.8121C= (p.Ala2707=) c.866C= n.1006C= c.8739C= (p.Ala2913=) c.6915C= (p.Ala2305=) c.6918C= (p.Ala2306=) n.5181C= c.8139C= (p.Ala2713=) c.7518C= (p.Ala2506=) c.8238C= (p.Ala2746=) c.8736C= (p.Ala2912=) c.6333C= (p.Ala2111=) | |
2 | g.237336361G>T | CA431702116 | COL6A3 | c.1384C>A c.8121C>A (p.Ala2707=) c.866C>A n.1006C>A c.8739C>A (p.Ala2913=) c.6915C>A (p.Ala2305=) c.6918C>A (p.Ala2306=) n.5181C>A c.8139C>A (p.Ala2713=) c.7518C>A (p.Ala2506=) c.8238C>A (p.Ala2746=) c.8736C>A (p.Ala2912=) c.6333C>A (p.Ala2111=) | |
2 | g.237336362G>A | CA351191741 | COL6A3 | c.1383C>T c.8120C>T (p.Ala2707Val) c.865C>T n.1005C>T c.8738C>T (p.Ala2913Val) c.6914C>T (p.Ala2305Val) c.6917C>T (p.Ala2306Val) n.5180C>T c.8138C>T (p.Ala2713Val) c.7517C>T (p.Ala2506Val) c.8237C>T (p.Ala2746Val) c.8735C>T (p.Ala2912Val) c.6332C>T (p.Ala2111Val) | gnomAD v4 |
2 | g.237336362G>C | CA351191742 | COL6A3 | c.1383C>G c.8120C>G (p.Ala2707Gly) c.865C>G n.1005C>G c.8738C>G (p.Ala2913Gly) c.6914C>G (p.Ala2305Gly) c.6917C>G (p.Ala2306Gly) n.5180C>G c.8138C>G (p.Ala2713Gly) c.7517C>G (p.Ala2506Gly) c.8237C>G (p.Ala2746Gly) c.8735C>G (p.Ala2912Gly) c.6332C>G (p.Ala2111Gly) | gnomAD v4 |
2 | g.237336362G= | CA1337607158 | COL6A3 | c.1383C= c.8120C= (p.Ala2707=) c.865C= n.1005C= c.8738C= (p.Ala2913=) c.6914C= (p.Ala2305=) c.6917C= (p.Ala2306=) n.5180C= c.8138C= (p.Ala2713=) c.7517C= (p.Ala2506=) c.8237C= (p.Ala2746=) c.8735C= (p.Ala2912=) c.6332C= (p.Ala2111=) | |
2 | g.237336362G>T | CA351191743 | COL6A3 | c.1383C>A c.8120C>A (p.Ala2707Asp) c.865C>A n.1005C>A c.8738C>A (p.Ala2913Asp) c.6914C>A (p.Ala2305Asp) c.6917C>A (p.Ala2306Asp) n.5180C>A c.8138C>A (p.Ala2713Asp) c.7517C>A (p.Ala2506Asp) c.8237C>A (p.Ala2746Asp) c.8735C>A (p.Ala2912Asp) c.6332C>A (p.Ala2111Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336363C>A | CA351191744 | COL6A3 | c.1382G>T c.8119G>T (p.Ala2707Ser) c.864G>T n.1004G>T c.8737G>T (p.Ala2913Ser) c.6913G>T (p.Ala2305Ser) c.6916G>T (p.Ala2306Ser) n.5179G>T c.8137G>T (p.Ala2713Ser) c.7516G>T (p.Ala2506Ser) c.8236G>T (p.Ala2746Ser) c.8734G>T (p.Ala2912Ser) c.6331G>T (p.Ala2111Ser) | gnomAD v4 |
2 | g.237336363C>G | CA351191745 | COL6A3 | c.1382G>C c.8119G>C (p.Ala2707Pro) c.864G>C n.1004G>C c.8737G>C (p.Ala2913Pro) c.6913G>C (p.Ala2305Pro) c.6916G>C (p.Ala2306Pro) n.5179G>C c.8137G>C (p.Ala2713Pro) c.7516G>C (p.Ala2506Pro) c.8236G>C (p.Ala2746Pro) c.8734G>C (p.Ala2912Pro) c.6331G>C (p.Ala2111Pro) | |
2 | g.237336363C>T | CA351191746 | COL6A3 | c.1382G>A c.8119G>A (p.Ala2707Thr) c.864G>A n.1004G>A c.8737G>A (p.Ala2913Thr) c.6913G>A (p.Ala2305Thr) c.6916G>A (p.Ala2306Thr) n.5179G>A c.8137G>A (p.Ala2713Thr) c.7516G>A (p.Ala2506Thr) c.8236G>A (p.Ala2746Thr) c.8734G>A (p.Ala2912Thr) c.6331G>A (p.Ala2111Thr) | |
2 | g.237336364del | CA2573130114 | COL6A3 | c.1382del c.8119del (p.Ala2707ProfsTer24) c.864del n.1004del c.8737del (p.Ala2913ProfsTer24) c.6913del (p.Ala2305ProfsTer24) c.6916del (p.Ala2306ProfsTer24) n.5179del c.8137del (p.Ala2713ProfsTer24) c.7516del (p.Ala2506ProfsTer24) c.8236del (p.Ala2746ProfsTer24) c.8734del (p.Ala2912ProfsTer24) c.6331del (p.Ala2111ProfsTer24) | |
2 | g.237336364C>A | CA2187454 | COL6A3 | c.1381G>T c.8118G>T (p.Pro2706=) c.863G>T n.1003G>T c.8736G>T (p.Pro2912=) c.6912G>T (p.Pro2304=) c.6915G>T (p.Pro2305=) n.5178G>T c.8136G>T (p.Pro2712=) c.7515G>T (p.Pro2505=) c.8235G>T (p.Pro2745=) c.8733G>T (p.Pro2911=) c.6330G>T (p.Pro2110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336364C= | CA1337607159 | COL6A3 | c.1381G= c.8118G= (p.Pro2706=) c.863G= n.1003G= c.8736G= (p.Pro2912=) c.6912G= (p.Pro2304=) c.6915G= (p.Pro2305=) n.5178G= c.8136G= (p.Pro2712=) c.7515G= (p.Pro2505=) c.8235G= (p.Pro2745=) c.8733G= (p.Pro2911=) c.6330G= (p.Pro2110=) | |
2 | g.237336364C>G | CA431702129 | COL6A3 | c.1381G>C c.8118G>C (p.Pro2706=) c.863G>C n.1003G>C c.8736G>C (p.Pro2912=) c.6912G>C (p.Pro2304=) c.6915G>C (p.Pro2305=) n.5178G>C c.8136G>C (p.Pro2712=) c.7515G>C (p.Pro2505=) c.8235G>C (p.Pro2745=) c.8733G>C (p.Pro2911=) c.6330G>C (p.Pro2110=) | |
2 | g.237336364C>T | CA2187455 | COL6A3 | c.1381G>A c.8118G>A (p.Pro2706=) c.863G>A n.1003G>A c.8736G>A (p.Pro2912=) c.6912G>A (p.Pro2304=) c.6915G>A (p.Pro2305=) n.5178G>A c.8136G>A (p.Pro2712=) c.7515G>A (p.Pro2505=) c.8235G>A (p.Pro2745=) c.8733G>A (p.Pro2911=) c.6330G>A (p.Pro2110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336364_237336379delinsCGGCTTTGCAGCGGCT | CA1337607160 | COL6A3 | c.1366_1381delinsAGCCGCTGCAAAGCCG c.8103_8118delinsAGCCGCTGCAAAGCCG (p.Pro2701=) c.848_863delinsAGCCGCTGCAAAGCCG n.988_1003delinsAGCCGCTGCAAAGCCG c.8721_8736delinsAGCCGCTGCAAAGCCG (p.Pro2907=) c.6897_6912delinsAGCCGCTGCAAAGCCG (p.Pro2299=) c.6900_6915delinsAGCCGCTGCAAAGCCG (p.Pro2300=) n.5163_5178delinsAGCCGCTGCAAAGCCG c.8121_8136delinsAGCCGCTGCAAAGCCG (p.Pro2707=) c.7500_7515delinsAGCCGCTGCAAAGCCG (p.Pro2500=) c.8220_8235delinsAGCCGCTGCAAAGCCG (p.Pro2740=) c.8718_8733delinsAGCCGCTGCAAAGCCG (p.Pro2906=) c.6315_6330delinsAGCCGCTGCAAAGCCG (p.Pro2105=) | |
2 | g.237336365G>A | CA179921 | COL6A3 | c.1380C>T c.8117C>T (p.Pro2706Leu) c.862C>T n.1002C>T c.8735C>T (p.Pro2912Leu) c.6911C>T (p.Pro2304Leu) c.6914C>T (p.Pro2305Leu) n.5177C>T c.8135C>T (p.Pro2712Leu) c.7514C>T (p.Pro2505Leu) c.8234C>T (p.Pro2745Leu) c.8732C>T (p.Pro2911Leu) c.6329C>T (p.Pro2110Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237336365G>C | CA351191747 | COL6A3 | c.1380C>G c.8117C>G (p.Pro2706Arg) c.862C>G n.1002C>G c.8735C>G (p.Pro2912Arg) c.6911C>G (p.Pro2304Arg) c.6914C>G (p.Pro2305Arg) n.5177C>G c.8135C>G (p.Pro2712Arg) c.7514C>G (p.Pro2505Arg) c.8234C>G (p.Pro2745Arg) c.8732C>G (p.Pro2911Arg) c.6329C>G (p.Pro2110Arg) | |
2 | g.237336365G= | CA1337607162 | COL6A3 | c.1380C= c.8117C= (p.Pro2706=) c.862C= n.1002C= c.8735C= (p.Pro2912=) c.6911C= (p.Pro2304=) c.6914C= (p.Pro2305=) n.5177C= c.8135C= (p.Pro2712=) c.7514C= (p.Pro2505=) c.8234C= (p.Pro2745=) c.8732C= (p.Pro2911=) c.6329C= (p.Pro2110=) | |
2 | g.237336365G>T | CA351191748 | COL6A3 | c.1380C>A c.8117C>A (p.Pro2706Gln) c.862C>A n.1002C>A c.8735C>A (p.Pro2912Gln) c.6911C>A (p.Pro2304Gln) c.6914C>A (p.Pro2305Gln) n.5177C>A c.8135C>A (p.Pro2712Gln) c.7514C>A (p.Pro2505Gln) c.8234C>A (p.Pro2745Gln) c.8732C>A (p.Pro2911Gln) c.6329C>A (p.Pro2110Gln) | gnomAD v4 |
2 | g.237336370_237336384del | CA1337607161 | COL6A3 | c.1366_1380del c.8103_8117del (p.Ala2702_Pro2706del) c.848_862del n.988_1002del c.8721_8735del (p.Ala2908_Pro2912del) c.6897_6911del (p.Ala2300_Pro2304del) c.6900_6914del (p.Ala2301_Pro2305del) n.5163_5177del c.8121_8135del (p.Ala2708_Pro2712del) c.7500_7514del (p.Ala2501_Pro2505del) c.8220_8234del (p.Ala2741_Pro2745del) c.8718_8732del (p.Ala2907_Pro2911del) c.6315_6329del (p.Ala2106_Pro2110del) | dbSNP gnomAD v4 |
2 | g.237336366G>A | CA351191749 | COL6A3 | c.1379C>T c.8116C>T (p.Pro2706Ser) c.861C>T n.1001C>T c.8734C>T (p.Pro2912Ser) c.6910C>T (p.Pro2304Ser) c.6913C>T (p.Pro2305Ser) n.5176C>T c.8134C>T (p.Pro2712Ser) c.7513C>T (p.Pro2505Ser) c.8233C>T (p.Pro2745Ser) c.8731C>T (p.Pro2911Ser) c.6328C>T (p.Pro2110Ser) | |
2 | g.237336366G>C | CA351191750 | COL6A3 | c.1379C>G c.8116C>G (p.Pro2706Ala) c.861C>G n.1001C>G c.8734C>G (p.Pro2912Ala) c.6910C>G (p.Pro2304Ala) c.6913C>G (p.Pro2305Ala) n.5176C>G c.8134C>G (p.Pro2712Ala) c.7513C>G (p.Pro2505Ala) c.8233C>G (p.Pro2745Ala) c.8731C>G (p.Pro2911Ala) c.6328C>G (p.Pro2110Ala) | |
2 | g.237336366G>T | CA351191751 | COL6A3 | c.1379C>A c.8116C>A (p.Pro2706Thr) c.861C>A n.1001C>A c.8734C>A (p.Pro2912Thr) c.6910C>A (p.Pro2304Thr) c.6913C>A (p.Pro2305Thr) n.5176C>A c.8134C>A (p.Pro2712Thr) c.7513C>A (p.Pro2505Thr) c.8233C>A (p.Pro2745Thr) c.8731C>A (p.Pro2911Thr) c.6328C>A (p.Pro2110Thr) | |
2 | g.237336367C>A | CA351191753 | COL6A3 | c.1378G>T c.8115G>T (p.Lys2705Asn) c.860G>T n.1000G>T c.8733G>T (p.Lys2911Asn) c.6909G>T (p.Lys2303Asn) c.6912G>T (p.Lys2304Asn) n.5175G>T c.8133G>T (p.Lys2711Asn) c.7512G>T (p.Lys2504Asn) c.8232G>T (p.Lys2744Asn) c.8730G>T (p.Lys2910Asn) c.6327G>T (p.Lys2109Asn) | COSMIC |
2 | g.237336367C= | CA1337607163 | COL6A3 | c.1378G= c.8115G= (p.Lys2705=) c.860G= n.1000G= c.8733G= (p.Lys2911=) c.6909G= (p.Lys2303=) c.6912G= (p.Lys2304=) n.5175G= c.8133G= (p.Lys2711=) c.7512G= (p.Lys2504=) c.8232G= (p.Lys2744=) c.8730G= (p.Lys2910=) c.6327G= (p.Lys2109=) | |
2 | g.237336367C>G | CA351191752 | COL6A3 | c.1378G>C c.8115G>C (p.Lys2705Asn) c.860G>C n.1000G>C c.8733G>C (p.Lys2911Asn) c.6909G>C (p.Lys2303Asn) c.6912G>C (p.Lys2304Asn) n.5175G>C c.8133G>C (p.Lys2711Asn) c.7512G>C (p.Lys2504Asn) c.8232G>C (p.Lys2744Asn) c.8730G>C (p.Lys2910Asn) c.6327G>C (p.Lys2109Asn) | dbSNP |
2 | g.237336367C>T | CA431702148 | COL6A3 | c.1378G>A c.8115G>A (p.Lys2705=) c.860G>A n.1000G>A c.8733G>A (p.Lys2911=) c.6909G>A (p.Lys2303=) c.6912G>A (p.Lys2304=) n.5175G>A c.8133G>A (p.Lys2711=) c.7512G>A (p.Lys2504=) c.8232G>A (p.Lys2744=) c.8730G>A (p.Lys2910=) c.6327G>A (p.Lys2109=) | gnomAD v4 |
2 | g.237336368T>A | CA351191754 | COL6A3 | c.1377A>T c.8114A>T (p.Lys2705Met) c.859A>T n.999A>T c.8732A>T (p.Lys2911Met) c.6908A>T (p.Lys2303Met) c.6911A>T (p.Lys2304Met) n.5174A>T c.8132A>T (p.Lys2711Met) c.7511A>T (p.Lys2504Met) c.8231A>T (p.Lys2744Met) c.8729A>T (p.Lys2910Met) c.6326A>T (p.Lys2109Met) | |
2 | g.237336368T>C | CA351191755 | COL6A3 | c.1377A>G c.8114A>G (p.Lys2705Arg) c.859A>G n.999A>G c.8732A>G (p.Lys2911Arg) c.6908A>G (p.Lys2303Arg) c.6911A>G (p.Lys2304Arg) n.5174A>G c.8132A>G (p.Lys2711Arg) c.7511A>G (p.Lys2504Arg) c.8231A>G (p.Lys2744Arg) c.8729A>G (p.Lys2910Arg) c.6326A>G (p.Lys2109Arg) | |
2 | g.237336368T>G | CA351191756 | COL6A3 | c.1377A>C c.8114A>C (p.Lys2705Thr) c.859A>C n.999A>C c.8732A>C (p.Lys2911Thr) c.6908A>C (p.Lys2303Thr) c.6911A>C (p.Lys2304Thr) n.5174A>C c.8132A>C (p.Lys2711Thr) c.7511A>C (p.Lys2504Thr) c.8231A>C (p.Lys2744Thr) c.8729A>C (p.Lys2910Thr) c.6326A>C (p.Lys2109Thr) | |
2 | g.237336369T>A | CA351191757 | COL6A3 | c.1376A>T c.8113A>T (p.Lys2705Ter) c.858A>T n.998A>T c.8731A>T (p.Lys2911Ter) c.6907A>T (p.Lys2303Ter) c.6910A>T (p.Lys2304Ter) n.5173A>T c.8131A>T (p.Lys2711Ter) c.7510A>T (p.Lys2504Ter) c.8230A>T (p.Lys2744Ter) c.8728A>T (p.Lys2910Ter) c.6325A>T (p.Lys2109Ter) | |
2 | g.237336369T>C | CA351191758 | COL6A3 | c.1376A>G c.8113A>G (p.Lys2705Glu) c.858A>G n.998A>G c.8731A>G (p.Lys2911Glu) c.6907A>G (p.Lys2303Glu) c.6910A>G (p.Lys2304Glu) n.5173A>G c.8131A>G (p.Lys2711Glu) c.7510A>G (p.Lys2504Glu) c.8230A>G (p.Lys2744Glu) c.8728A>G (p.Lys2910Glu) c.6325A>G (p.Lys2109Glu) | |
2 | g.237336369T>G | CA351191759 | COL6A3 | c.1376A>C c.8113A>C (p.Lys2705Gln) c.858A>C n.998A>C c.8731A>C (p.Lys2911Gln) c.6907A>C (p.Lys2303Gln) c.6910A>C (p.Lys2304Gln) n.5173A>C c.8131A>C (p.Lys2711Gln) c.7510A>C (p.Lys2504Gln) c.8230A>C (p.Lys2744Gln) c.8728A>C (p.Lys2910Gln) c.6325A>C (p.Lys2109Gln) | |
2 | g.237336370T>A | CA431702156 | COL6A3 | c.1375A>T c.8112A>T (p.Ala2704=) c.857A>T n.997A>T c.8730A>T (p.Ala2910=) c.6906A>T (p.Ala2302=) c.6909A>T (p.Ala2303=) n.5172A>T c.8130A>T (p.Ala2710=) c.7509A>T (p.Ala2503=) c.8229A>T (p.Ala2743=) c.8727A>T (p.Ala2909=) c.6324A>T (p.Ala2108=) | |
2 | g.237336370T>C | CA431702158 | COL6A3 | c.1375A>G c.8112A>G (p.Ala2704=) c.857A>G n.997A>G c.8730A>G (p.Ala2910=) c.6906A>G (p.Ala2302=) c.6909A>G (p.Ala2303=) n.5172A>G c.8130A>G (p.Ala2710=) c.7509A>G (p.Ala2503=) c.8229A>G (p.Ala2743=) c.8727A>G (p.Ala2909=) c.6324A>G (p.Ala2108=) | |
2 | g.237336370T>G | CA431702159 | COL6A3 | c.1375A>C c.8112A>C (p.Ala2704=) c.857A>C n.997A>C c.8730A>C (p.Ala2910=) c.6906A>C (p.Ala2302=) c.6909A>C (p.Ala2303=) n.5172A>C c.8130A>C (p.Ala2710=) c.7509A>C (p.Ala2503=) c.8229A>C (p.Ala2743=) c.8727A>C (p.Ala2909=) c.6324A>C (p.Ala2108=) | |
2 | g.237336371G>A | CA2187456 | COL6A3 | c.1374C>T c.8111C>T (p.Ala2704Val) c.856C>T n.996C>T c.8729C>T (p.Ala2910Val) c.6905C>T (p.Ala2302Val) c.6908C>T (p.Ala2303Val) n.5171C>T c.8129C>T (p.Ala2710Val) c.7508C>T (p.Ala2503Val) c.8228C>T (p.Ala2743Val) c.8726C>T (p.Ala2909Val) c.6323C>T (p.Ala2108Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336371G>C | CA351191760 | COL6A3 | c.1374C>G c.8111C>G (p.Ala2704Gly) c.856C>G n.996C>G c.8729C>G (p.Ala2910Gly) c.6905C>G (p.Ala2302Gly) c.6908C>G (p.Ala2303Gly) n.5171C>G c.8129C>G (p.Ala2710Gly) c.7508C>G (p.Ala2503Gly) c.8228C>G (p.Ala2743Gly) c.8726C>G (p.Ala2909Gly) c.6323C>G (p.Ala2108Gly) | |
2 | g.237336371G= | CA1337607164 | COL6A3 | c.1374C= c.8111C= (p.Ala2704=) c.856C= n.996C= c.8729C= (p.Ala2910=) c.6905C= (p.Ala2302=) c.6908C= (p.Ala2303=) n.5171C= c.8129C= (p.Ala2710=) c.7508C= (p.Ala2503=) c.8228C= (p.Ala2743=) c.8726C= (p.Ala2909=) c.6323C= (p.Ala2108=) | |
2 | g.237336371G>T | CA351191761 | COL6A3 | c.1374C>A c.8111C>A (p.Ala2704Glu) c.856C>A n.996C>A c.8729C>A (p.Ala2910Glu) c.6905C>A (p.Ala2302Glu) c.6908C>A (p.Ala2303Glu) n.5171C>A c.8129C>A (p.Ala2710Glu) c.7508C>A (p.Ala2503Glu) c.8228C>A (p.Ala2743Glu) c.8726C>A (p.Ala2909Glu) c.6323C>A (p.Ala2108Glu) |