Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237366919C>A | CA431710625 | COL6A3 | c.4650G>T (p.Val1550=) c.5268G>T (p.Val1756=) c.3447G>T (p.Val1149=) c.4668G>T (p.Val1556=) c.4047G>T (p.Val1349=) c.4767G>T (p.Val1589=) c.5265G>T (p.Val1755=) c.2862G>T (p.Val954=) | gnomAD v4 |
2 | g.237366919C>G | CA431710626 | COL6A3 | c.4650G>C (p.Val1550=) c.5268G>C (p.Val1756=) c.3447G>C (p.Val1149=) c.4668G>C (p.Val1556=) c.4047G>C (p.Val1349=) c.4767G>C (p.Val1589=) c.5265G>C (p.Val1755=) c.2862G>C (p.Val954=) | |
2 | g.237366919C>T | CA431710627 | COL6A3 | c.4650G>A (p.Val1550=) c.5268G>A (p.Val1756=) c.3447G>A (p.Val1149=) c.4668G>A (p.Val1556=) c.4047G>A (p.Val1349=) c.4767G>A (p.Val1589=) c.5265G>A (p.Val1755=) c.2862G>A (p.Val954=) | |
2 | g.237366920A>C | CA351187836 | COL6A3 | c.4649T>G (p.Val1550Gly) c.5267T>G (p.Val1756Gly) c.3446T>G (p.Val1149Gly) c.4667T>G (p.Val1556Gly) c.4046T>G (p.Val1349Gly) c.4766T>G (p.Val1589Gly) c.5264T>G (p.Val1755Gly) c.2861T>G (p.Val954Gly) | |
2 | g.237366920A>G | CA351187837 | COL6A3 | c.4649T>C (p.Val1550Ala) c.5267T>C (p.Val1756Ala) c.3446T>C (p.Val1149Ala) c.4667T>C (p.Val1556Ala) c.4046T>C (p.Val1349Ala) c.4766T>C (p.Val1589Ala) c.5264T>C (p.Val1755Ala) c.2861T>C (p.Val954Ala) | |
2 | g.237366920A>T | CA351187838 | COL6A3 | c.4649T>A (p.Val1550Glu) c.5267T>A (p.Val1756Glu) c.3446T>A (p.Val1149Glu) c.4667T>A (p.Val1556Glu) c.4046T>A (p.Val1349Glu) c.4766T>A (p.Val1589Glu) c.5264T>A (p.Val1755Glu) c.2861T>A (p.Val954Glu) | |
2 | g.237366921C>A | CA351187839 | COL6A3 | c.4648G>T (p.Val1550Leu) c.5266G>T (p.Val1756Leu) c.3445G>T (p.Val1149Leu) c.4666G>T (p.Val1556Leu) c.4045G>T (p.Val1349Leu) c.4765G>T (p.Val1589Leu) c.5263G>T (p.Val1755Leu) c.2860G>T (p.Val954Leu) | gnomAD v4 |
2 | g.237366921C= | CA1337620961 | COL6A3 | c.4648G= (p.Val1550=) c.5266G= (p.Val1756=) c.3445G= (p.Val1149=) c.4666G= (p.Val1556=) c.4045G= (p.Val1349=) c.4765G= (p.Val1589=) c.5263G= (p.Val1755=) c.2860G= (p.Val954=) | |
2 | g.237366921C>G | CA351187840 | COL6A3 | c.4648G>C (p.Val1550Leu) c.5266G>C (p.Val1756Leu) c.3445G>C (p.Val1149Leu) c.4666G>C (p.Val1556Leu) c.4045G>C (p.Val1349Leu) c.4765G>C (p.Val1589Leu) c.5263G>C (p.Val1755Leu) c.2860G>C (p.Val954Leu) | |
2 | g.237366921C>T | CA67814409 | COL6A3 | c.4648G>A (p.Val1550Met) c.5266G>A (p.Val1756Met) c.3445G>A (p.Val1149Met) c.4666G>A (p.Val1556Met) c.4045G>A (p.Val1349Met) c.4765G>A (p.Val1589Met) c.5263G>A (p.Val1755Met) c.2860G>A (p.Val954Met) | dbSNP |
2 | g.237366922C>A | CA431710628 | COL6A3 | c.4647G>T (p.Ser1549=) c.5265G>T (p.Ser1755=) c.3444G>T (p.Ser1148=) c.4665G>T (p.Ser1555=) c.4044G>T (p.Ser1348=) c.4764G>T (p.Ser1588=) c.5262G>T (p.Ser1754=) c.2859G>T (p.Ser953=) | dbSNP gnomAD v4 |
2 | g.237366922C= | CA1337620962 | COL6A3 | c.4647G= (p.Ser1549=) c.5265G= (p.Ser1755=) c.3444G= (p.Ser1148=) c.4665G= (p.Ser1555=) c.4044G= (p.Ser1348=) c.4764G= (p.Ser1588=) c.5262G= (p.Ser1754=) c.2859G= (p.Ser953=) | |
2 | g.237366922C>G | CA431710629 | COL6A3 | c.4647G>C (p.Ser1549=) c.5265G>C (p.Ser1755=) c.3444G>C (p.Ser1148=) c.4665G>C (p.Ser1555=) c.4044G>C (p.Ser1348=) c.4764G>C (p.Ser1588=) c.5262G>C (p.Ser1754=) c.2859G>C (p.Ser953=) | |
2 | g.237366922C>T | CA2188710 | COL6A3 | c.4647G>A (p.Ser1549=) c.5265G>A (p.Ser1755=) c.3444G>A (p.Ser1148=) c.4665G>A (p.Ser1555=) c.4044G>A (p.Ser1348=) c.4764G>A (p.Ser1588=) c.5262G>A (p.Ser1754=) c.2859G>A (p.Ser953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237366923G>A | CA2188711 | COL6A3 | c.4646C>T (p.Ser1549Leu) c.5264C>T (p.Ser1755Leu) c.3443C>T (p.Ser1148Leu) c.4664C>T (p.Ser1555Leu) c.4043C>T (p.Ser1348Leu) c.4763C>T (p.Ser1588Leu) c.5261C>T (p.Ser1754Leu) c.2858C>T (p.Ser953Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366923G>C | CA351187841 | COL6A3 | c.4646C>G (p.Ser1549Trp) c.5264C>G (p.Ser1755Trp) c.3443C>G (p.Ser1148Trp) c.4664C>G (p.Ser1555Trp) c.4043C>G (p.Ser1348Trp) c.4763C>G (p.Ser1588Trp) c.5261C>G (p.Ser1754Trp) c.2858C>G (p.Ser953Trp) | |
2 | g.237366923G= | CA1337620963 | COL6A3 | c.4646C= (p.Ser1549=) c.5264C= (p.Ser1755=) c.3443C= (p.Ser1148=) c.4664C= (p.Ser1555=) c.4043C= (p.Ser1348=) c.4763C= (p.Ser1588=) c.5261C= (p.Ser1754=) c.2858C= (p.Ser953=) | |
2 | g.237366923G>T | CA351187842 | COL6A3 | c.4646C>A (p.Ser1549Ter) c.5264C>A (p.Ser1755Ter) c.3443C>A (p.Ser1148Ter) c.4664C>A (p.Ser1555Ter) c.4043C>A (p.Ser1348Ter) c.4763C>A (p.Ser1588Ter) c.5261C>A (p.Ser1754Ter) c.2858C>A (p.Ser953Ter) | |
2 | g.237366924A>C | CA351187843 | COL6A3 | c.4645T>G (p.Ser1549Ala) c.5263T>G (p.Ser1755Ala) c.3442T>G (p.Ser1148Ala) c.4663T>G (p.Ser1555Ala) c.4042T>G (p.Ser1348Ala) c.4762T>G (p.Ser1588Ala) c.5260T>G (p.Ser1754Ala) c.2857T>G (p.Ser953Ala) | |
2 | g.237366924A>G | CA351187844 | COL6A3 | c.4645T>C (p.Ser1549Pro) c.5263T>C (p.Ser1755Pro) c.3442T>C (p.Ser1148Pro) c.4663T>C (p.Ser1555Pro) c.4042T>C (p.Ser1348Pro) c.4762T>C (p.Ser1588Pro) c.5260T>C (p.Ser1754Pro) c.2857T>C (p.Ser953Pro) | |
2 | g.237366924A>T | CA351187845 | COL6A3 | c.4645T>A (p.Ser1549Thr) c.5263T>A (p.Ser1755Thr) c.3442T>A (p.Ser1148Thr) c.4663T>A (p.Ser1555Thr) c.4042T>A (p.Ser1348Thr) c.4762T>A (p.Ser1588Thr) c.5260T>A (p.Ser1754Thr) c.2857T>A (p.Ser953Thr) | |
2 | g.237366925C>A | CA351187847 | COL6A3 | c.4644G>T (p.Lys1548Asn) c.5262G>T (p.Lys1754Asn) c.3441G>T (p.Lys1147Asn) c.4662G>T (p.Lys1554Asn) c.4041G>T (p.Lys1347Asn) c.4761G>T (p.Lys1587Asn) c.5259G>T (p.Lys1753Asn) c.2856G>T (p.Lys952Asn) | |
2 | g.237366925C>G | CA351187846 | COL6A3 | c.4644G>C (p.Lys1548Asn) c.5262G>C (p.Lys1754Asn) c.3441G>C (p.Lys1147Asn) c.4662G>C (p.Lys1554Asn) c.4041G>C (p.Lys1347Asn) c.4761G>C (p.Lys1587Asn) c.5259G>C (p.Lys1753Asn) c.2856G>C (p.Lys952Asn) | |
2 | g.237366925C>T | CA431710630 | COL6A3 | c.4644G>A (p.Lys1548=) c.5262G>A (p.Lys1754=) c.3441G>A (p.Lys1147=) c.4662G>A (p.Lys1554=) c.4041G>A (p.Lys1347=) c.4761G>A (p.Lys1587=) c.5259G>A (p.Lys1753=) c.2856G>A (p.Lys952=) | |
2 | g.237366926T>A | CA351187848 | COL6A3 | c.4643A>T (p.Lys1548Met) c.5261A>T (p.Lys1754Met) c.3440A>T (p.Lys1147Met) c.4661A>T (p.Lys1554Met) c.4040A>T (p.Lys1347Met) c.4760A>T (p.Lys1587Met) c.5258A>T (p.Lys1753Met) c.2855A>T (p.Lys952Met) | ClinVar |
2 | g.237366926T>C | CA248670 | COL6A3 | c.4643A>G (p.Lys1548Arg) c.5261A>G (p.Lys1754Arg) c.3440A>G (p.Lys1147Arg) c.4661A>G (p.Lys1554Arg) c.4040A>G (p.Lys1347Arg) c.4760A>G (p.Lys1587Arg) c.5258A>G (p.Lys1753Arg) c.2855A>G (p.Lys952Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366926T>G | CA351187849 | COL6A3 | c.4643A>C (p.Lys1548Thr) c.5261A>C (p.Lys1754Thr) c.3440A>C (p.Lys1147Thr) c.4661A>C (p.Lys1554Thr) c.4040A>C (p.Lys1347Thr) c.4760A>C (p.Lys1587Thr) c.5258A>C (p.Lys1753Thr) c.2855A>C (p.Lys952Thr) | |
2 | g.237366926T= | CA1337620964 | COL6A3 | c.4643A= (p.Lys1548=) c.5261A= (p.Lys1754=) c.3440A= (p.Lys1147=) c.4661A= (p.Lys1554=) c.4040A= (p.Lys1347=) c.4760A= (p.Lys1587=) c.5258A= (p.Lys1753=) c.2855A= (p.Lys952=) | |
2 | g.237366927T>A | CA351187850 | COL6A3 | c.4642A>T (p.Lys1548Ter) c.5260A>T (p.Lys1754Ter) c.3439A>T (p.Lys1147Ter) c.4660A>T (p.Lys1554Ter) c.4039A>T (p.Lys1347Ter) c.4759A>T (p.Lys1587Ter) c.5257A>T (p.Lys1753Ter) c.2854A>T (p.Lys952Ter) | |
2 | g.237366927T>C | CA351187851 | COL6A3 | c.4642A>G (p.Lys1548Glu) c.5260A>G (p.Lys1754Glu) c.3439A>G (p.Lys1147Glu) c.4660A>G (p.Lys1554Glu) c.4039A>G (p.Lys1347Glu) c.4759A>G (p.Lys1587Glu) c.5257A>G (p.Lys1753Glu) c.2854A>G (p.Lys952Glu) | |
2 | g.237366927T>G | CA351187852 | COL6A3 | c.4642A>C (p.Lys1548Gln) c.5260A>C (p.Lys1754Gln) c.3439A>C (p.Lys1147Gln) c.4660A>C (p.Lys1554Gln) c.4039A>C (p.Lys1347Gln) c.4759A>C (p.Lys1587Gln) c.5257A>C (p.Lys1753Gln) c.2854A>C (p.Lys952Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366927T= | CA1337620965 | COL6A3 | c.4642A= (p.Lys1548=) c.5260A= (p.Lys1754=) c.3439A= (p.Lys1147=) c.4660A= (p.Lys1554=) c.4039A= (p.Lys1347=) c.4759A= (p.Lys1587=) c.5257A= (p.Lys1753=) c.2854A= (p.Lys952=) | |
2 | g.237366928T>A | CA431710631 | COL6A3 | c.4641A>T (p.Gly1547=) c.5259A>T (p.Gly1753=) c.3438A>T (p.Gly1146=) c.4659A>T (p.Gly1553=) c.4038A>T (p.Gly1346=) c.4758A>T (p.Gly1586=) c.5256A>T (p.Gly1752=) c.2853A>T (p.Gly951=) | |
2 | g.237366928T>C | CA431710633 | COL6A3 | c.4641A>G (p.Gly1547=) c.5259A>G (p.Gly1753=) c.3438A>G (p.Gly1146=) c.4659A>G (p.Gly1553=) c.4038A>G (p.Gly1346=) c.4758A>G (p.Gly1586=) c.5256A>G (p.Gly1752=) c.2853A>G (p.Gly951=) | dbSNP |
2 | g.237366928T>G | CA431710632 | COL6A3 | c.4641A>C (p.Gly1547=) c.5259A>C (p.Gly1753=) c.3438A>C (p.Gly1146=) c.4659A>C (p.Gly1553=) c.4038A>C (p.Gly1346=) c.4758A>C (p.Gly1586=) c.5256A>C (p.Gly1752=) c.2853A>C (p.Gly951=) | |
2 | g.237366928T= | CA1337620966 | COL6A3 | c.4641A= (p.Gly1547=) c.5259A= (p.Gly1753=) c.3438A= (p.Gly1146=) c.4659A= (p.Gly1553=) c.4038A= (p.Gly1346=) c.4758A= (p.Gly1586=) c.5256A= (p.Gly1752=) c.2853A= (p.Gly951=) | |
2 | g.237366929C>A | CA351187853 | COL6A3 | c.4640G>T (p.Gly1547Val) c.5258G>T (p.Gly1753Val) c.3437G>T (p.Gly1146Val) c.4658G>T (p.Gly1553Val) c.4037G>T (p.Gly1346Val) c.4757G>T (p.Gly1586Val) c.5255G>T (p.Gly1752Val) c.2852G>T (p.Gly951Val) | |
2 | g.237366929C>G | CA351187854 | COL6A3 | c.4640G>C (p.Gly1547Ala) c.5258G>C (p.Gly1753Ala) c.3437G>C (p.Gly1146Ala) c.4658G>C (p.Gly1553Ala) c.4037G>C (p.Gly1346Ala) c.4757G>C (p.Gly1586Ala) c.5255G>C (p.Gly1752Ala) c.2852G>C (p.Gly951Ala) | |
2 | g.237366929C>T | CA351187855 | COL6A3 | c.4640G>A (p.Gly1547Glu) c.5258G>A (p.Gly1753Glu) c.3437G>A (p.Gly1146Glu) c.4658G>A (p.Gly1553Glu) c.4037G>A (p.Gly1346Glu) c.4757G>A (p.Gly1586Glu) c.5255G>A (p.Gly1752Glu) c.2852G>A (p.Gly951Glu) | |
2 | g.237366930C>A | CA351187856 | COL6A3 | c.4639G>T (p.Gly1547Ter) c.5257G>T (p.Gly1753Ter) c.3436G>T (p.Gly1146Ter) c.4657G>T (p.Gly1553Ter) c.4036G>T (p.Gly1346Ter) c.4756G>T (p.Gly1586Ter) c.5254G>T (p.Gly1752Ter) c.2851G>T (p.Gly951Ter) | |
2 | g.237366930C>G | CA351187857 | COL6A3 | c.4639G>C (p.Gly1547Arg) c.5257G>C (p.Gly1753Arg) c.3436G>C (p.Gly1146Arg) c.4657G>C (p.Gly1553Arg) c.4036G>C (p.Gly1346Arg) c.4756G>C (p.Gly1586Arg) c.5254G>C (p.Gly1752Arg) c.2851G>C (p.Gly951Arg) | |
2 | g.237366930C>T | CA351187858 | COL6A3 | c.4639G>A (p.Gly1547Arg) c.5257G>A (p.Gly1753Arg) c.3436G>A (p.Gly1146Arg) c.4657G>A (p.Gly1553Arg) c.4036G>A (p.Gly1346Arg) c.4756G>A (p.Gly1586Arg) c.5254G>A (p.Gly1752Arg) c.2851G>A (p.Gly951Arg) | gnomAD v4 |
2 | g.237366931T>A | CA431710634 | COL6A3 | c.4638A>T (p.Gly1546=) c.5256A>T (p.Gly1752=) c.3435A>T (p.Gly1145=) c.4656A>T (p.Gly1552=) c.4035A>T (p.Gly1345=) c.4755A>T (p.Gly1585=) c.5253A>T (p.Gly1751=) c.2850A>T (p.Gly950=) | |
2 | g.237366931T>C | CA431710635 | COL6A3 | c.4638A>G (p.Gly1546=) c.5256A>G (p.Gly1752=) c.3435A>G (p.Gly1145=) c.4656A>G (p.Gly1552=) c.4035A>G (p.Gly1345=) c.4755A>G (p.Gly1585=) c.5253A>G (p.Gly1751=) c.2850A>G (p.Gly950=) | gnomAD v4 |
2 | g.237366931T>G | CA431710636 | COL6A3 | c.4638A>C (p.Gly1546=) c.5256A>C (p.Gly1752=) c.3435A>C (p.Gly1145=) c.4656A>C (p.Gly1552=) c.4035A>C (p.Gly1345=) c.4755A>C (p.Gly1585=) c.5253A>C (p.Gly1751=) c.2850A>C (p.Gly950=) | |
2 | g.237366932C>A | CA351187861 | COL6A3 | c.4637G>T (p.Gly1546Val) c.5255G>T (p.Gly1752Val) c.3434G>T (p.Gly1145Val) c.4655G>T (p.Gly1552Val) c.4034G>T (p.Gly1345Val) c.4754G>T (p.Gly1585Val) c.5252G>T (p.Gly1751Val) c.2849G>T (p.Gly950Val) | |
2 | g.237366932C>G | CA351187860 | COL6A3 | c.4637G>C (p.Gly1546Ala) c.5255G>C (p.Gly1752Ala) c.3434G>C (p.Gly1145Ala) c.4655G>C (p.Gly1552Ala) c.4034G>C (p.Gly1345Ala) c.4754G>C (p.Gly1585Ala) c.5252G>C (p.Gly1751Ala) c.2849G>C (p.Gly950Ala) | |
2 | g.237366932C>T | CA351187859 | COL6A3 | c.4637G>A (p.Gly1546Glu) c.5255G>A (p.Gly1752Glu) c.3434G>A (p.Gly1145Glu) c.4655G>A (p.Gly1552Glu) c.4034G>A (p.Gly1345Glu) c.4754G>A (p.Gly1585Glu) c.5252G>A (p.Gly1751Glu) c.2849G>A (p.Gly950Glu) | COSMIC |
2 | g.237366933C>A | CA351187862 | COL6A3 | c.4636G>T (p.Gly1546Ter) c.5254G>T (p.Gly1752Ter) c.3433G>T (p.Gly1145Ter) c.4654G>T (p.Gly1552Ter) c.4033G>T (p.Gly1345Ter) c.4753G>T (p.Gly1585Ter) c.5251G>T (p.Gly1751Ter) c.2848G>T (p.Gly950Ter) | |
2 | g.237366933C>G | CA351187864 | COL6A3 | c.4636G>C (p.Gly1546Arg) c.5254G>C (p.Gly1752Arg) c.3433G>C (p.Gly1145Arg) c.4654G>C (p.Gly1552Arg) c.4033G>C (p.Gly1345Arg) c.4753G>C (p.Gly1585Arg) c.5251G>C (p.Gly1751Arg) c.2848G>C (p.Gly950Arg) | |
2 | g.237366933C>T | CA351187863 | COL6A3 | c.4636G>A (p.Gly1546Arg) c.5254G>A (p.Gly1752Arg) c.3433G>A (p.Gly1145Arg) c.4654G>A (p.Gly1552Arg) c.4033G>A (p.Gly1345Arg) c.4753G>A (p.Gly1585Arg) c.5251G>A (p.Gly1751Arg) c.2848G>A (p.Gly950Arg) | |
2 | g.237366934C>A | CA431710637 | COL6A3 | c.4635G>T (p.Thr1545=) c.5253G>T (p.Thr1751=) c.3432G>T (p.Thr1144=) c.4653G>T (p.Thr1551=) c.4032G>T (p.Thr1344=) c.4752G>T (p.Thr1584=) c.5250G>T (p.Thr1750=) c.2847G>T (p.Thr949=) | |
2 | g.237366934C= | CA1337620967 | COL6A3 | c.4635G= (p.Thr1545=) c.5253G= (p.Thr1751=) c.3432G= (p.Thr1144=) c.4653G= (p.Thr1551=) c.4032G= (p.Thr1344=) c.4752G= (p.Thr1584=) c.5250G= (p.Thr1750=) c.2847G= (p.Thr949=) | |
2 | g.237366934C>G | CA431710638 | COL6A3 | c.4635G>C (p.Thr1545=) c.5253G>C (p.Thr1751=) c.3432G>C (p.Thr1144=) c.4653G>C (p.Thr1551=) c.4032G>C (p.Thr1344=) c.4752G>C (p.Thr1584=) c.5250G>C (p.Thr1750=) c.2847G>C (p.Thr949=) | |
2 | g.237366934C>T | CA10605201 | COL6A3 | c.4635G>A (p.Thr1545=) c.5253G>A (p.Thr1751=) c.3432G>A (p.Thr1144=) c.4653G>A (p.Thr1551=) c.4032G>A (p.Thr1344=) c.4752G>A (p.Thr1584=) c.5250G>A (p.Thr1750=) c.2847G>A (p.Thr949=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366935G>A | CA2188712 | COL6A3 | c.4634C>T (p.Thr1545Met) c.5252C>T (p.Thr1751Met) c.3431C>T (p.Thr1144Met) c.4652C>T (p.Thr1551Met) c.4031C>T (p.Thr1344Met) c.4751C>T (p.Thr1584Met) c.5249C>T (p.Thr1750Met) c.2846C>T (p.Thr949Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366935G>C | CA351187865 | COL6A3 | c.4634C>G (p.Thr1545Arg) c.5252C>G (p.Thr1751Arg) c.3431C>G (p.Thr1144Arg) c.4652C>G (p.Thr1551Arg) c.4031C>G (p.Thr1344Arg) c.4751C>G (p.Thr1584Arg) c.5249C>G (p.Thr1750Arg) c.2846C>G (p.Thr949Arg) | |
2 | g.237366935G= | CA1337620968 | COL6A3 | c.4634C= (p.Thr1545=) c.5252C= (p.Thr1751=) c.3431C= (p.Thr1144=) c.4652C= (p.Thr1551=) c.4031C= (p.Thr1344=) c.4751C= (p.Thr1584=) c.5249C= (p.Thr1750=) c.2846C= (p.Thr949=) | |
2 | g.237366935G>T | CA351187866 | COL6A3 | c.4634C>A (p.Thr1545Lys) c.5252C>A (p.Thr1751Lys) c.3431C>A (p.Thr1144Lys) c.4652C>A (p.Thr1551Lys) c.4031C>A (p.Thr1344Lys) c.4751C>A (p.Thr1584Lys) c.5249C>A (p.Thr1750Lys) c.2846C>A (p.Thr949Lys) | |
2 | g.237366936T>A | CA351187867 | COL6A3 | c.4633A>T (p.Thr1545Ser) c.5251A>T (p.Thr1751Ser) c.3430A>T (p.Thr1144Ser) c.4651A>T (p.Thr1551Ser) c.4030A>T (p.Thr1344Ser) c.4750A>T (p.Thr1584Ser) c.5248A>T (p.Thr1750Ser) c.2845A>T (p.Thr949Ser) | dbSNP |
2 | g.237366936T>C | CA351187869 | COL6A3 | c.4633A>G (p.Thr1545Ala) c.5251A>G (p.Thr1751Ala) c.3430A>G (p.Thr1144Ala) c.4651A>G (p.Thr1551Ala) c.4030A>G (p.Thr1344Ala) c.4750A>G (p.Thr1584Ala) c.5248A>G (p.Thr1750Ala) c.2845A>G (p.Thr949Ala) | gnomAD v4 |
2 | g.237366936T>G | CA351187868 | COL6A3 | c.4633A>C (p.Thr1545Pro) c.5251A>C (p.Thr1751Pro) c.3430A>C (p.Thr1144Pro) c.4651A>C (p.Thr1551Pro) c.4030A>C (p.Thr1344Pro) c.4750A>C (p.Thr1584Pro) c.5248A>C (p.Thr1750Pro) c.2845A>C (p.Thr949Pro) | |
2 | g.237366937G>A | CA431710639 | COL6A3 | c.4632C>T (p.Ile1544=) c.5250C>T (p.Ile1750=) c.3429C>T (p.Ile1143=) c.4650C>T (p.Ile1550=) c.4029C>T (p.Ile1343=) c.4749C>T (p.Ile1583=) c.5247C>T (p.Ile1749=) c.2844C>T (p.Ile948=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.237366937G>C | CA351187870 | COL6A3 | c.4632C>G (p.Ile1544Met) c.5250C>G (p.Ile1750Met) c.3429C>G (p.Ile1143Met) c.4650C>G (p.Ile1550Met) c.4029C>G (p.Ile1343Met) c.4749C>G (p.Ile1583Met) c.5247C>G (p.Ile1749Met) c.2844C>G (p.Ile948Met) | |
2 | g.237366937G= | CA1337620969 | COL6A3 | c.4632C= (p.Ile1544=) c.5250C= (p.Ile1750=) c.3429C= (p.Ile1143=) c.4650C= (p.Ile1550=) c.4029C= (p.Ile1343=) c.4749C= (p.Ile1583=) c.5247C= (p.Ile1749=) c.2844C= (p.Ile948=) | |
2 | g.237366937G>T | CA431710640 | COL6A3 | c.4632C>A (p.Ile1544=) c.5250C>A (p.Ile1750=) c.3429C>A (p.Ile1143=) c.4650C>A (p.Ile1550=) c.4029C>A (p.Ile1343=) c.4749C>A (p.Ile1583=) c.5247C>A (p.Ile1749=) c.2844C>A (p.Ile948=) | |
2 | g.237366938A>C | CA351187871 | COL6A3 | c.4631T>G (p.Ile1544Ser) c.5249T>G (p.Ile1750Ser) c.3428T>G (p.Ile1143Ser) c.4649T>G (p.Ile1550Ser) c.4028T>G (p.Ile1343Ser) c.4748T>G (p.Ile1583Ser) c.5246T>G (p.Ile1749Ser) c.2843T>G (p.Ile948Ser) | |
2 | g.237366938A>G | CA351187872 | COL6A3 | c.4631T>C (p.Ile1544Thr) c.5249T>C (p.Ile1750Thr) c.3428T>C (p.Ile1143Thr) c.4649T>C (p.Ile1550Thr) c.4028T>C (p.Ile1343Thr) c.4748T>C (p.Ile1583Thr) c.5246T>C (p.Ile1749Thr) c.2843T>C (p.Ile948Thr) | gnomAD v4 |
2 | g.237366938A>T | CA351187873 | COL6A3 | c.4631T>A (p.Ile1544Asn) c.5249T>A (p.Ile1750Asn) c.3428T>A (p.Ile1143Asn) c.4649T>A (p.Ile1550Asn) c.4028T>A (p.Ile1343Asn) c.4748T>A (p.Ile1583Asn) c.5246T>A (p.Ile1749Asn) c.2843T>A (p.Ile948Asn) | |
2 | g.237366939T>A | CA351187874 | COL6A3 | c.4630A>T (p.Ile1544Phe) c.5248A>T (p.Ile1750Phe) c.3427A>T (p.Ile1143Phe) c.4648A>T (p.Ile1550Phe) c.4027A>T (p.Ile1343Phe) c.4747A>T (p.Ile1583Phe) c.5245A>T (p.Ile1749Phe) c.2842A>T (p.Ile948Phe) | |
2 | g.237366939T>C | CA351187875 | COL6A3 | c.4630A>G (p.Ile1544Val) c.5248A>G (p.Ile1750Val) c.3427A>G (p.Ile1143Val) c.4648A>G (p.Ile1550Val) c.4027A>G (p.Ile1343Val) c.4747A>G (p.Ile1583Val) c.5245A>G (p.Ile1749Val) c.2842A>G (p.Ile948Val) | |
2 | g.237366939T>G | CA351187876 | COL6A3 | c.4630A>C (p.Ile1544Leu) c.5248A>C (p.Ile1750Leu) c.3427A>C (p.Ile1143Leu) c.4648A>C (p.Ile1550Leu) c.4027A>C (p.Ile1343Leu) c.4747A>C (p.Ile1583Leu) c.5245A>C (p.Ile1749Leu) c.2842A>C (p.Ile948Leu) | |
2 | g.237366940C>A | CA431710641 | COL6A3 | c.4629G>T (p.Val1543=) c.5247G>T (p.Val1749=) c.3426G>T (p.Val1142=) c.4647G>T (p.Val1549=) c.4026G>T (p.Val1342=) c.4746G>T (p.Val1582=) c.5244G>T (p.Val1748=) c.2841G>T (p.Val947=) | |
2 | g.237366940C>G | CA431710643 | COL6A3 | c.4629G>C (p.Val1543=) c.5247G>C (p.Val1749=) c.3426G>C (p.Val1142=) c.4647G>C (p.Val1549=) c.4026G>C (p.Val1342=) c.4746G>C (p.Val1582=) c.5244G>C (p.Val1748=) c.2841G>C (p.Val947=) | |
2 | g.237366940C>T | CA431710642 | COL6A3 | c.4629G>A (p.Val1543=) c.5247G>A (p.Val1749=) c.3426G>A (p.Val1142=) c.4647G>A (p.Val1549=) c.4026G>A (p.Val1342=) c.4746G>A (p.Val1582=) c.5244G>A (p.Val1748=) c.2841G>A (p.Val947=) | |
2 | g.237366941A>C | CA351187877 | COL6A3 | c.4628T>G (p.Val1543Gly) c.5246T>G (p.Val1749Gly) c.3425T>G (p.Val1142Gly) c.4646T>G (p.Val1549Gly) c.4025T>G (p.Val1342Gly) c.4745T>G (p.Val1582Gly) c.5243T>G (p.Val1748Gly) c.2840T>G (p.Val947Gly) | |
2 | g.237366941A>G | CA351187878 | COL6A3 | c.4628T>C (p.Val1543Ala) c.5246T>C (p.Val1749Ala) c.3425T>C (p.Val1142Ala) c.4646T>C (p.Val1549Ala) c.4025T>C (p.Val1342Ala) c.4745T>C (p.Val1582Ala) c.5243T>C (p.Val1748Ala) c.2840T>C (p.Val947Ala) | |
2 | g.237366941A>T | CA351187879 | COL6A3 | c.4628T>A (p.Val1543Glu) c.5246T>A (p.Val1749Glu) c.3425T>A (p.Val1142Glu) c.4646T>A (p.Val1549Glu) c.4025T>A (p.Val1342Glu) c.4745T>A (p.Val1582Glu) c.5243T>A (p.Val1748Glu) c.2840T>A (p.Val947Glu) | |
2 | g.237366942C>A | CA351187880 | COL6A3 | c.4627G>T (p.Val1543Leu) c.5245G>T (p.Val1749Leu) c.3424G>T (p.Val1142Leu) c.4645G>T (p.Val1549Leu) c.4024G>T (p.Val1342Leu) c.4744G>T (p.Val1582Leu) c.5242G>T (p.Val1748Leu) c.2839G>T (p.Val947Leu) | |
2 | g.237366942C>G | CA351187881 | COL6A3 | c.4627G>C (p.Val1543Leu) c.5245G>C (p.Val1749Leu) c.3424G>C (p.Val1142Leu) c.4645G>C (p.Val1549Leu) c.4024G>C (p.Val1342Leu) c.4744G>C (p.Val1582Leu) c.5242G>C (p.Val1748Leu) c.2839G>C (p.Val947Leu) | |
2 | g.237366942C>T | CA351187882 | COL6A3 | c.4627G>A (p.Val1543Met) c.5245G>A (p.Val1749Met) c.3424G>A (p.Val1142Met) c.4645G>A (p.Val1549Met) c.4024G>A (p.Val1342Met) c.4744G>A (p.Val1582Met) c.5242G>A (p.Val1748Met) c.2839G>A (p.Val947Met) | |
2 | g.237366943A= | CA1337620970 | COL6A3 | c.4626T= (p.Phe1542=) c.5244T= (p.Phe1748=) c.3423T= (p.Phe1141=) c.4644T= (p.Phe1548=) c.4023T= (p.Phe1341=) c.4743T= (p.Phe1581=) c.5241T= (p.Phe1747=) c.2838T= (p.Phe946=) | |
2 | g.237366943A>C | CA351187883 | COL6A3 | c.4626T>G (p.Phe1542Leu) c.5244T>G (p.Phe1748Leu) c.3423T>G (p.Phe1141Leu) c.4644T>G (p.Phe1548Leu) c.4023T>G (p.Phe1341Leu) c.4743T>G (p.Phe1581Leu) c.5241T>G (p.Phe1747Leu) c.2838T>G (p.Phe946Leu) | |
2 | g.237366943A>G | CA431710644 | COL6A3 | c.4626T>C (p.Phe1542=) c.5244T>C (p.Phe1748=) c.3423T>C (p.Phe1141=) c.4644T>C (p.Phe1548=) c.4023T>C (p.Phe1341=) c.4743T>C (p.Phe1581=) c.5241T>C (p.Phe1747=) c.2838T>C (p.Phe946=) | |
2 | g.237366943A>T | CA2188713 | COL6A3 | c.4626T>A (p.Phe1542Leu) c.5244T>A (p.Phe1748Leu) c.3423T>A (p.Phe1141Leu) c.4644T>A (p.Phe1548Leu) c.4023T>A (p.Phe1341Leu) c.4743T>A (p.Phe1581Leu) c.5241T>A (p.Phe1747Leu) c.2838T>A (p.Phe946Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366944A>C | CA351187884 | COL6A3 | c.4625T>G (p.Phe1542Cys) c.5243T>G (p.Phe1748Cys) c.3422T>G (p.Phe1141Cys) c.4643T>G (p.Phe1548Cys) c.4022T>G (p.Phe1341Cys) c.4742T>G (p.Phe1581Cys) c.5240T>G (p.Phe1747Cys) c.2837T>G (p.Phe946Cys) | |
2 | g.237366944A>G | CA351187885 | COL6A3 | c.4625T>C (p.Phe1542Ser) c.5243T>C (p.Phe1748Ser) c.3422T>C (p.Phe1141Ser) c.4643T>C (p.Phe1548Ser) c.4022T>C (p.Phe1341Ser) c.4742T>C (p.Phe1581Ser) c.5240T>C (p.Phe1747Ser) c.2837T>C (p.Phe946Ser) | |
2 | g.237366944A>T | CA351187886 | COL6A3 | c.4625T>A (p.Phe1542Tyr) c.5243T>A (p.Phe1748Tyr) c.3422T>A (p.Phe1141Tyr) c.4643T>A (p.Phe1548Tyr) c.4022T>A (p.Phe1341Tyr) c.4742T>A (p.Phe1581Tyr) c.5240T>A (p.Phe1747Tyr) c.2837T>A (p.Phe946Tyr) | |
2 | g.237366945A= | CA1337620971 | COL6A3 | c.4624T= (p.Phe1542=) c.5242T= (p.Phe1748=) c.3421T= (p.Phe1141=) c.4642T= (p.Phe1548=) c.4021T= (p.Phe1341=) c.4741T= (p.Phe1581=) c.5239T= (p.Phe1747=) c.2836T= (p.Phe946=) | |
2 | g.237366945A>C | CA351187887 | COL6A3 | c.4624T>G (p.Phe1542Val) c.5242T>G (p.Phe1748Val) c.3421T>G (p.Phe1141Val) c.4642T>G (p.Phe1548Val) c.4021T>G (p.Phe1341Val) c.4741T>G (p.Phe1581Val) c.5239T>G (p.Phe1747Val) c.2836T>G (p.Phe946Val) | |
2 | g.237366945A>G | CA351187888 | COL6A3 | c.4624T>C (p.Phe1542Leu) c.5242T>C (p.Phe1748Leu) c.3421T>C (p.Phe1141Leu) c.4642T>C (p.Phe1548Leu) c.4021T>C (p.Phe1341Leu) c.4741T>C (p.Phe1581Leu) c.5239T>C (p.Phe1747Leu) c.2836T>C (p.Phe946Leu) | gnomAD v4 |
2 | g.237366945A>T | CA351187889 | COL6A3 | c.4624T>A (p.Phe1542Ile) c.5242T>A (p.Phe1748Ile) c.3421T>A (p.Phe1141Ile) c.4642T>A (p.Phe1548Ile) c.4021T>A (p.Phe1341Ile) c.4741T>A (p.Phe1581Ile) c.5239T>A (p.Phe1747Ile) c.2836T>A (p.Phe946Ile) | dbSNP gnomAD v2 |
2 | g.237366946G>A | CA2188714 | COL6A3 | c.4623C>T (p.Ala1541=) c.5241C>T (p.Ala1747=) c.3420C>T (p.Ala1140=) c.4641C>T (p.Ala1547=) c.4020C>T (p.Ala1340=) c.4740C>T (p.Ala1580=) c.5238C>T (p.Ala1746=) c.2835C>T (p.Ala945=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366946G>C | CA431710646 | COL6A3 | c.4623C>G (p.Ala1541=) c.5241C>G (p.Ala1747=) c.3420C>G (p.Ala1140=) c.4641C>G (p.Ala1547=) c.4020C>G (p.Ala1340=) c.4740C>G (p.Ala1580=) c.5238C>G (p.Ala1746=) c.2835C>G (p.Ala945=) | |
2 | g.237366946G= | CA1337620972 | COL6A3 | c.4623C= (p.Ala1541=) c.5241C= (p.Ala1747=) c.3420C= (p.Ala1140=) c.4641C= (p.Ala1547=) c.4020C= (p.Ala1340=) c.4740C= (p.Ala1580=) c.5238C= (p.Ala1746=) c.2835C= (p.Ala945=) | |
2 | g.237366946G>T | CA431710647 | COL6A3 | c.4623C>A (p.Ala1541=) c.5241C>A (p.Ala1747=) c.3420C>A (p.Ala1140=) c.4641C>A (p.Ala1547=) c.4020C>A (p.Ala1340=) c.4740C>A (p.Ala1580=) c.5238C>A (p.Ala1746=) c.2835C>A (p.Ala945=) | |
2 | g.237366947G>A | CA351187890 | COL6A3 | c.4622C>T (p.Ala1541Val) c.5240C>T (p.Ala1747Val) c.3419C>T (p.Ala1140Val) c.4640C>T (p.Ala1547Val) c.4019C>T (p.Ala1340Val) c.4739C>T (p.Ala1580Val) c.5237C>T (p.Ala1746Val) c.2834C>T (p.Ala945Val) | |
2 | g.237366947G>C | CA351187891 | COL6A3 | c.4622C>G (p.Ala1541Gly) c.5240C>G (p.Ala1747Gly) c.3419C>G (p.Ala1140Gly) c.4640C>G (p.Ala1547Gly) c.4019C>G (p.Ala1340Gly) c.4739C>G (p.Ala1580Gly) c.5237C>G (p.Ala1746Gly) c.2834C>G (p.Ala945Gly) | gnomAD v4 |
2 | g.237366947G>T | CA351187892 | COL6A3 | c.4622C>A (p.Ala1541Asp) c.5240C>A (p.Ala1747Asp) c.3419C>A (p.Ala1140Asp) c.4640C>A (p.Ala1547Asp) c.4019C>A (p.Ala1340Asp) c.4739C>A (p.Ala1580Asp) c.5237C>A (p.Ala1746Asp) c.2834C>A (p.Ala945Asp) | |
2 | g.237366948C>A | CA351187893 | COL6A3 | c.4621G>T (p.Ala1541Ser) c.5239G>T (p.Ala1747Ser) c.3418G>T (p.Ala1140Ser) c.4639G>T (p.Ala1547Ser) c.4018G>T (p.Ala1340Ser) c.4738G>T (p.Ala1580Ser) c.5236G>T (p.Ala1746Ser) c.2833G>T (p.Ala945Ser) | |
2 | g.237366948C>G | CA351187894 | COL6A3 | c.4621G>C (p.Ala1541Pro) c.5239G>C (p.Ala1747Pro) c.3418G>C (p.Ala1140Pro) c.4639G>C (p.Ala1547Pro) c.4018G>C (p.Ala1340Pro) c.4738G>C (p.Ala1580Pro) c.5236G>C (p.Ala1746Pro) c.2833G>C (p.Ala945Pro) | |
2 | g.237366948C>T | CA351187895 | COL6A3 | c.4621G>A (p.Ala1541Thr) c.5239G>A (p.Ala1747Thr) c.3418G>A (p.Ala1140Thr) c.4639G>A (p.Ala1547Thr) c.4018G>A (p.Ala1340Thr) c.4738G>A (p.Ala1580Thr) c.5236G>A (p.Ala1746Thr) c.2833G>A (p.Ala945Thr) | |
2 | g.237366949A>C | CA351187896 | COL6A3 | c.4620T>G (p.Ile1540Met) c.5238T>G (p.Ile1746Met) c.3417T>G (p.Ile1139Met) c.4638T>G (p.Ile1546Met) c.4017T>G (p.Ile1339Met) c.4737T>G (p.Ile1579Met) c.5235T>G (p.Ile1745Met) c.2832T>G (p.Ile944Met) | gnomAD v4 |
2 | g.237366949A>G | CA431710651 | COL6A3 | c.4620T>C (p.Ile1540=) c.5238T>C (p.Ile1746=) c.3417T>C (p.Ile1139=) c.4638T>C (p.Ile1546=) c.4017T>C (p.Ile1339=) c.4737T>C (p.Ile1579=) c.5235T>C (p.Ile1745=) c.2832T>C (p.Ile944=) | |
2 | g.237366949A>T | CA431710652 | COL6A3 | c.4620T>A (p.Ile1540=) c.5238T>A (p.Ile1746=) c.3417T>A (p.Ile1139=) c.4638T>A (p.Ile1546=) c.4017T>A (p.Ile1339=) c.4737T>A (p.Ile1579=) c.5235T>A (p.Ile1745=) c.2832T>A (p.Ile944=) | |
2 | g.237366950A>C | CA351187899 | COL6A3 | c.4619T>G (p.Ile1540Ser) c.5237T>G (p.Ile1746Ser) c.3416T>G (p.Ile1139Ser) c.4637T>G (p.Ile1546Ser) c.4016T>G (p.Ile1339Ser) c.4736T>G (p.Ile1579Ser) c.5234T>G (p.Ile1745Ser) c.2831T>G (p.Ile944Ser) | |
2 | g.237366950A>G | CA351187897 | COL6A3 | c.4619T>C (p.Ile1540Thr) c.5237T>C (p.Ile1746Thr) c.3416T>C (p.Ile1139Thr) c.4637T>C (p.Ile1546Thr) c.4016T>C (p.Ile1339Thr) c.4736T>C (p.Ile1579Thr) c.5234T>C (p.Ile1745Thr) c.2831T>C (p.Ile944Thr) | gnomAD v4 |
2 | g.237366950A>T | CA351187898 | COL6A3 | c.4619T>A (p.Ile1540Asn) c.5237T>A (p.Ile1746Asn) c.3416T>A (p.Ile1139Asn) c.4637T>A (p.Ile1546Asn) c.4016T>A (p.Ile1339Asn) c.4736T>A (p.Ile1579Asn) c.5234T>A (p.Ile1745Asn) c.2831T>A (p.Ile944Asn) | |
2 | g.237366951T>A | CA351187900 | COL6A3 | c.4618A>T (p.Ile1540Phe) c.5236A>T (p.Ile1746Phe) c.3415A>T (p.Ile1139Phe) c.4636A>T (p.Ile1546Phe) c.4015A>T (p.Ile1339Phe) c.4735A>T (p.Ile1579Phe) c.5233A>T (p.Ile1745Phe) c.2830A>T (p.Ile944Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366951T>C | CA351187901 | COL6A3 | c.4618A>G (p.Ile1540Val) c.5236A>G (p.Ile1746Val) c.3415A>G (p.Ile1139Val) c.4636A>G (p.Ile1546Val) c.4015A>G (p.Ile1339Val) c.4735A>G (p.Ile1579Val) c.5233A>G (p.Ile1745Val) c.2830A>G (p.Ile944Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366951T>G | CA351187902 | COL6A3 | c.4618A>C (p.Ile1540Leu) c.5236A>C (p.Ile1746Leu) c.3415A>C (p.Ile1139Leu) c.4636A>C (p.Ile1546Leu) c.4015A>C (p.Ile1339Leu) c.4735A>C (p.Ile1579Leu) c.5233A>C (p.Ile1745Leu) c.2830A>C (p.Ile944Leu) | |
2 | g.237366951T= | CA1337620973 | COL6A3 | c.4618A= (p.Ile1540=) c.5236A= (p.Ile1746=) c.3415A= (p.Ile1139=) c.4636A= (p.Ile1546=) c.4015A= (p.Ile1339=) c.4735A= (p.Ile1579=) c.5233A= (p.Ile1745=) c.2830A= (p.Ile944=) | |
2 | g.237366952C>A | CA351187903 | COL6A3 | c.4617G>T (p.Gln1539His) c.5235G>T (p.Gln1745His) c.3414G>T (p.Gln1138His) c.4635G>T (p.Gln1545His) c.4014G>T (p.Gln1338His) c.4734G>T (p.Gln1578His) c.5232G>T (p.Gln1744His) c.2829G>T (p.Gln943His) | |
2 | g.237366952C= | CA1337620974 | COL6A3 | c.4617G= (p.Gln1539=) c.5235G= (p.Gln1745=) c.3414G= (p.Gln1138=) c.4635G= (p.Gln1545=) c.4014G= (p.Gln1338=) c.4734G= (p.Gln1578=) c.5232G= (p.Gln1744=) c.2829G= (p.Gln943=) | |
2 | g.237366952C>G | CA351187904 | COL6A3 | c.4617G>C (p.Gln1539His) c.5235G>C (p.Gln1745His) c.3414G>C (p.Gln1138His) c.4635G>C (p.Gln1545His) c.4014G>C (p.Gln1338His) c.4734G>C (p.Gln1578His) c.5232G>C (p.Gln1744His) c.2829G>C (p.Gln943His) | dbSNP |
2 | g.237366952C>T | CA431710656 | COL6A3 | c.4617G>A (p.Gln1539=) c.5235G>A (p.Gln1745=) c.3414G>A (p.Gln1138=) c.4635G>A (p.Gln1545=) c.4014G>A (p.Gln1338=) c.4734G>A (p.Gln1578=) c.5232G>A (p.Gln1744=) c.2829G>A (p.Gln943=) | |
2 | g.237366953T>A | CA351187905 | COL6A3 | c.4616A>T (p.Gln1539Leu) c.5234A>T (p.Gln1745Leu) c.3413A>T (p.Gln1138Leu) c.4634A>T (p.Gln1545Leu) c.4013A>T (p.Gln1338Leu) c.4733A>T (p.Gln1578Leu) c.5231A>T (p.Gln1744Leu) c.2828A>T (p.Gln943Leu) | |
2 | g.237366953T>C | CA2188715 | COL6A3 | c.4616A>G (p.Gln1539Arg) c.5234A>G (p.Gln1745Arg) c.3413A>G (p.Gln1138Arg) c.4634A>G (p.Gln1545Arg) c.4013A>G (p.Gln1338Arg) c.4733A>G (p.Gln1578Arg) c.5231A>G (p.Gln1744Arg) c.2828A>G (p.Gln943Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366953T>G | CA351187906 | COL6A3 | c.4616A>C (p.Gln1539Pro) c.5234A>C (p.Gln1745Pro) c.3413A>C (p.Gln1138Pro) c.4634A>C (p.Gln1545Pro) c.4013A>C (p.Gln1338Pro) c.4733A>C (p.Gln1578Pro) c.5231A>C (p.Gln1744Pro) c.2828A>C (p.Gln943Pro) | gnomAD v4 |
2 | g.237366953T= | CA1337620975 | COL6A3 | c.4616A= (p.Gln1539=) c.5234A= (p.Gln1745=) c.3413A= (p.Gln1138=) c.4634A= (p.Gln1545=) c.4013A= (p.Gln1338=) c.4733A= (p.Gln1578=) c.5231A= (p.Gln1744=) c.2828A= (p.Gln943=) | |
2 | g.237366954G>A | CA351187907 | COL6A3 | c.4615C>T (p.Gln1539Ter) c.5233C>T (p.Gln1745Ter) c.3412C>T (p.Gln1138Ter) c.4633C>T (p.Gln1545Ter) c.4012C>T (p.Gln1338Ter) c.4732C>T (p.Gln1578Ter) c.5230C>T (p.Gln1744Ter) c.2827C>T (p.Gln943Ter) | |
2 | g.237366954G>C | CA351187908 | COL6A3 | c.4615C>G (p.Gln1539Glu) c.5233C>G (p.Gln1745Glu) c.3412C>G (p.Gln1138Glu) c.4633C>G (p.Gln1545Glu) c.4012C>G (p.Gln1338Glu) c.4732C>G (p.Gln1578Glu) c.5230C>G (p.Gln1744Glu) c.2827C>G (p.Gln943Glu) | |
2 | g.237366954G>T | CA351187909 | COL6A3 | c.4615C>A (p.Gln1539Lys) c.5233C>A (p.Gln1745Lys) c.3412C>A (p.Gln1138Lys) c.4633C>A (p.Gln1545Lys) c.4012C>A (p.Gln1338Lys) c.4732C>A (p.Gln1578Lys) c.5230C>A (p.Gln1744Lys) c.2827C>A (p.Gln943Lys) | |
2 | g.237366955A>C | CA431710659 | COL6A3 | c.4614T>G (p.Pro1538=) c.5232T>G (p.Pro1744=) c.3411T>G (p.Pro1137=) c.4632T>G (p.Pro1544=) c.4011T>G (p.Pro1337=) c.4731T>G (p.Pro1577=) c.5229T>G (p.Pro1743=) c.2826T>G (p.Pro942=) | |
2 | g.237366955A>G | CA431710657 | COL6A3 | c.4614T>C (p.Pro1538=) c.5232T>C (p.Pro1744=) c.3411T>C (p.Pro1137=) c.4632T>C (p.Pro1544=) c.4011T>C (p.Pro1337=) c.4731T>C (p.Pro1577=) c.5229T>C (p.Pro1743=) c.2826T>C (p.Pro942=) | |
2 | g.237366955A>T | CA431710658 | COL6A3 | c.4614T>A (p.Pro1538=) c.5232T>A (p.Pro1744=) c.3411T>A (p.Pro1137=) c.4632T>A (p.Pro1544=) c.4011T>A (p.Pro1337=) c.4731T>A (p.Pro1577=) c.5229T>A (p.Pro1743=) c.2826T>A (p.Pro942=) | |
2 | g.237366956G>A | CA351187912 | COL6A3 | c.4613C>T (p.Pro1538Leu) c.5231C>T (p.Pro1744Leu) c.3410C>T (p.Pro1137Leu) c.4631C>T (p.Pro1544Leu) c.4010C>T (p.Pro1337Leu) c.4730C>T (p.Pro1577Leu) c.5228C>T (p.Pro1743Leu) c.2825C>T (p.Pro942Leu) | ClinVar |
2 | g.237366956G>C | CA351187910 | COL6A3 | c.4613C>G (p.Pro1538Arg) c.5231C>G (p.Pro1744Arg) c.3410C>G (p.Pro1137Arg) c.4631C>G (p.Pro1544Arg) c.4010C>G (p.Pro1337Arg) c.4730C>G (p.Pro1577Arg) c.5228C>G (p.Pro1743Arg) c.2825C>G (p.Pro942Arg) | |
2 | g.237366956G>T | CA351187911 | COL6A3 | c.4613C>A (p.Pro1538His) c.5231C>A (p.Pro1744His) c.3410C>A (p.Pro1137His) c.4631C>A (p.Pro1544His) c.4010C>A (p.Pro1337His) c.4730C>A (p.Pro1577His) c.5228C>A (p.Pro1743His) c.2825C>A (p.Pro942His) | |
2 | g.237366957G>A | CA2188716 | COL6A3 | c.4612C>T (p.Pro1538Ser) c.5230C>T (p.Pro1744Ser) c.3409C>T (p.Pro1137Ser) c.4630C>T (p.Pro1544Ser) c.4009C>T (p.Pro1337Ser) c.4729C>T (p.Pro1577Ser) c.5227C>T (p.Pro1743Ser) c.2824C>T (p.Pro942Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366957G>C | CA351187913 | COL6A3 | c.4612C>G (p.Pro1538Ala) c.5230C>G (p.Pro1744Ala) c.3409C>G (p.Pro1137Ala) c.4630C>G (p.Pro1544Ala) c.4009C>G (p.Pro1337Ala) c.4729C>G (p.Pro1577Ala) c.5227C>G (p.Pro1743Ala) c.2824C>G (p.Pro942Ala) | |
2 | g.237366957G= | CA1337620976 | COL6A3 | c.4612C= (p.Pro1538=) c.5230C= (p.Pro1744=) c.3409C= (p.Pro1137=) c.4630C= (p.Pro1544=) c.4009C= (p.Pro1337=) c.4729C= (p.Pro1577=) c.5227C= (p.Pro1743=) c.2824C= (p.Pro942=) | |
2 | g.237366957G>T | CA351187914 | COL6A3 | c.4612C>A (p.Pro1538Thr) c.5230C>A (p.Pro1744Thr) c.3409C>A (p.Pro1137Thr) c.4630C>A (p.Pro1544Thr) c.4009C>A (p.Pro1337Thr) c.4729C>A (p.Pro1577Thr) c.5227C>A (p.Pro1743Thr) c.2824C>A (p.Pro942Thr) | |
2 | g.237366958G>A | CA431710666 | COL6A3 | c.4611C>T (p.Val1537=) c.5229C>T (p.Val1743=) c.3408C>T (p.Val1136=) c.4629C>T (p.Val1543=) c.4008C>T (p.Val1336=) c.4728C>T (p.Val1576=) c.5226C>T (p.Val1742=) c.2823C>T (p.Val941=) | gnomAD v4 COSMIC |
2 | g.237366958G>C | CA431710667 | COL6A3 | c.4611C>G (p.Val1537=) c.5229C>G (p.Val1743=) c.3408C>G (p.Val1136=) c.4629C>G (p.Val1543=) c.4008C>G (p.Val1336=) c.4728C>G (p.Val1576=) c.5226C>G (p.Val1742=) c.2823C>G (p.Val941=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366958G= | CA1337620977 | COL6A3 | c.4611C= (p.Val1537=) c.5229C= (p.Val1743=) c.3408C= (p.Val1136=) c.4629C= (p.Val1543=) c.4008C= (p.Val1336=) c.4728C= (p.Val1576=) c.5226C= (p.Val1742=) c.2823C= (p.Val941=) | |
2 | g.237366958G>T | CA431710668 | COL6A3 | c.4611C>A (p.Val1537=) c.5229C>A (p.Val1743=) c.3408C>A (p.Val1136=) c.4629C>A (p.Val1543=) c.4008C>A (p.Val1336=) c.4728C>A (p.Val1576=) c.5226C>A (p.Val1742=) c.2823C>A (p.Val941=) | |
2 | g.237366959A= | CA1337620978 | COL6A3 | c.4610T= (p.Val1537=) c.5228T= (p.Val1743=) c.3407T= (p.Val1136=) c.4628T= (p.Val1543=) c.4007T= (p.Val1336=) c.4727T= (p.Val1576=) c.5225T= (p.Val1742=) c.2822T= (p.Val941=) | |
2 | g.237366959A>C | CA351187915 | COL6A3 | c.4610T>G (p.Val1537Gly) c.5228T>G (p.Val1743Gly) c.3407T>G (p.Val1136Gly) c.4628T>G (p.Val1543Gly) c.4007T>G (p.Val1336Gly) c.4727T>G (p.Val1576Gly) c.5225T>G (p.Val1742Gly) c.2822T>G (p.Val941Gly) | dbSNP |
2 | g.237366959A>G | CA351187916 | COL6A3 | c.4610T>C (p.Val1537Ala) c.5228T>C (p.Val1743Ala) c.3407T>C (p.Val1136Ala) c.4628T>C (p.Val1543Ala) c.4007T>C (p.Val1336Ala) c.4727T>C (p.Val1576Ala) c.5225T>C (p.Val1742Ala) c.2822T>C (p.Val941Ala) | |
2 | g.237366959A>T | CA351187917 | COL6A3 | c.4610T>A (p.Val1537Asp) c.5228T>A (p.Val1743Asp) c.3407T>A (p.Val1136Asp) c.4628T>A (p.Val1543Asp) c.4007T>A (p.Val1336Asp) c.4727T>A (p.Val1576Asp) c.5225T>A (p.Val1742Asp) c.2822T>A (p.Val941Asp) | |
2 | g.237366960C>A | CA351187918 | COL6A3 | c.4609G>T (p.Val1537Phe) c.5227G>T (p.Val1743Phe) c.3406G>T (p.Val1136Phe) c.4627G>T (p.Val1543Phe) c.4006G>T (p.Val1336Phe) c.4726G>T (p.Val1576Phe) c.5224G>T (p.Val1742Phe) c.2821G>T (p.Val941Phe) | |
2 | g.237366960C>G | CA351187919 | COL6A3 | c.4609G>C (p.Val1537Leu) c.5227G>C (p.Val1743Leu) c.3406G>C (p.Val1136Leu) c.4627G>C (p.Val1543Leu) c.4006G>C (p.Val1336Leu) c.4726G>C (p.Val1576Leu) c.5224G>C (p.Val1742Leu) c.2821G>C (p.Val941Leu) | |
2 | g.237366960C>T | CA351187920 | COL6A3 | c.4609G>A (p.Val1537Ile) c.5227G>A (p.Val1743Ile) c.3406G>A (p.Val1136Ile) c.4627G>A (p.Val1543Ile) c.4006G>A (p.Val1336Ile) c.4726G>A (p.Val1576Ile) c.5224G>A (p.Val1742Ile) c.2821G>A (p.Val941Ile) | gnomAD v4 |
2 | g.237366961C>A | CA431710673 | COL6A3 | c.4608G>T (p.Arg1536=) c.5226G>T (p.Arg1742=) c.3405G>T (p.Arg1135=) c.4626G>T (p.Arg1542=) c.4005G>T (p.Arg1335=) c.4725G>T (p.Arg1575=) c.5223G>T (p.Arg1741=) c.2820G>T (p.Arg940=) | COSMIC |
2 | g.237366961C= | CA1337620979 | COL6A3 | c.4608G= (p.Arg1536=) c.5226G= (p.Arg1742=) c.3405G= (p.Arg1135=) c.4626G= (p.Arg1542=) c.4005G= (p.Arg1335=) c.4725G= (p.Arg1575=) c.5223G= (p.Arg1741=) c.2820G= (p.Arg940=) | |
2 | g.237366961C>G | CA431710675 | COL6A3 | c.4608G>C (p.Arg1536=) c.5226G>C (p.Arg1742=) c.3405G>C (p.Arg1135=) c.4626G>C (p.Arg1542=) c.4005G>C (p.Arg1335=) c.4725G>C (p.Arg1575=) c.5223G>C (p.Arg1741=) c.2820G>C (p.Arg940=) | dbSNP |
2 | g.237366961C>T | CA431710676 | COL6A3 | c.4608G>A (p.Arg1536=) c.5226G>A (p.Arg1742=) c.3405G>A (p.Arg1135=) c.4626G>A (p.Arg1542=) c.4005G>A (p.Arg1335=) c.4725G>A (p.Arg1575=) c.5223G>A (p.Arg1741=) c.2820G>A (p.Arg940=) | gnomAD v4 |
2 | g.237366962C>A | CA351187921 | COL6A3 | c.4607G>T (p.Arg1536Leu) c.5225G>T (p.Arg1742Leu) c.3404G>T (p.Arg1135Leu) c.4625G>T (p.Arg1542Leu) c.4004G>T (p.Arg1335Leu) c.4724G>T (p.Arg1575Leu) c.5222G>T (p.Arg1741Leu) c.2819G>T (p.Arg940Leu) | |
2 | g.237366962C= | CA1337620980 | COL6A3 | c.4607G= (p.Arg1536=) c.5225G= (p.Arg1742=) c.3404G= (p.Arg1135=) c.4625G= (p.Arg1542=) c.4004G= (p.Arg1335=) c.4724G= (p.Arg1575=) c.5222G= (p.Arg1741=) c.2819G= (p.Arg940=) | |
2 | g.237366962C>G | CA351187922 | COL6A3 | c.4607G>C (p.Arg1536Pro) c.5225G>C (p.Arg1742Pro) c.3404G>C (p.Arg1135Pro) c.4625G>C (p.Arg1542Pro) c.4004G>C (p.Arg1335Pro) c.4724G>C (p.Arg1575Pro) c.5222G>C (p.Arg1741Pro) c.2819G>C (p.Arg940Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366962C>T | CA10604777 | COL6A3 | c.4607G>A (p.Arg1536Gln) c.5225G>A (p.Arg1742Gln) c.3404G>A (p.Arg1135Gln) c.4625G>A (p.Arg1542Gln) c.4004G>A (p.Arg1335Gln) c.4724G>A (p.Arg1575Gln) c.5222G>A (p.Arg1741Gln) c.2819G>A (p.Arg940Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366963G>A | CA2188717 | COL6A3 | c.4606C>T (p.Arg1536Trp) c.5224C>T (p.Arg1742Trp) c.3403C>T (p.Arg1135Trp) c.4624C>T (p.Arg1542Trp) c.4003C>T (p.Arg1335Trp) c.4723C>T (p.Arg1575Trp) c.5221C>T (p.Arg1741Trp) c.2818C>T (p.Arg940Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.237366963G>C | CA351187923 | COL6A3 | c.4606C>G (p.Arg1536Gly) c.5224C>G (p.Arg1742Gly) c.3403C>G (p.Arg1135Gly) c.4624C>G (p.Arg1542Gly) c.4003C>G (p.Arg1335Gly) c.4723C>G (p.Arg1575Gly) c.5221C>G (p.Arg1741Gly) c.2818C>G (p.Arg940Gly) | |
2 | g.237366963G= | CA1337620981 | COL6A3 | c.4606C= (p.Arg1536=) c.5224C= (p.Arg1742=) c.3403C= (p.Arg1135=) c.4624C= (p.Arg1542=) c.4003C= (p.Arg1335=) c.4723C= (p.Arg1575=) c.5221C= (p.Arg1741=) c.2818C= (p.Arg940=) | |
2 | g.237366963G>T | CA67814479 | COL6A3 | c.4606C>A (p.Arg1536=) c.5224C>A (p.Arg1742=) c.3403C>A (p.Arg1135=) c.4624C>A (p.Arg1542=) c.4003C>A (p.Arg1335=) c.4723C>A (p.Arg1575=) c.5221C>A (p.Arg1741=) c.2818C>A (p.Arg940=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366964C>A | CA351187924 | COL6A3 | c.4605G>T (p.Gln1535His) c.5223G>T (p.Gln1741His) c.3402G>T (p.Gln1134His) c.4623G>T (p.Gln1541His) c.4002G>T (p.Gln1334His) c.4722G>T (p.Gln1574His) c.5220G>T (p.Gln1740His) c.2817G>T (p.Gln939His) | |
2 | g.237366964C>G | CA351187925 | COL6A3 | c.4605G>C (p.Gln1535His) c.5223G>C (p.Gln1741His) c.3402G>C (p.Gln1134His) c.4623G>C (p.Gln1541His) c.4002G>C (p.Gln1334His) c.4722G>C (p.Gln1574His) c.5220G>C (p.Gln1740His) c.2817G>C (p.Gln939His) | |
2 | g.237366964C>T | CA431710683 | COL6A3 | c.4605G>A (p.Gln1535=) c.5223G>A (p.Gln1741=) c.3402G>A (p.Gln1134=) c.4623G>A (p.Gln1541=) c.4002G>A (p.Gln1334=) c.4722G>A (p.Gln1574=) c.5220G>A (p.Gln1740=) c.2817G>A (p.Gln939=) | |
2 | g.237366965T>A | CA2188718 | COL6A3 | c.4604A>T (p.Gln1535Leu) c.5222A>T (p.Gln1741Leu) c.3401A>T (p.Gln1134Leu) c.4622A>T (p.Gln1541Leu) c.4001A>T (p.Gln1334Leu) c.4721A>T (p.Gln1574Leu) c.5219A>T (p.Gln1740Leu) c.2816A>T (p.Gln939Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366965T>C | CA351187926 | COL6A3 | c.4604A>G (p.Gln1535Arg) c.5222A>G (p.Gln1741Arg) c.3401A>G (p.Gln1134Arg) c.4622A>G (p.Gln1541Arg) c.4001A>G (p.Gln1334Arg) c.4721A>G (p.Gln1574Arg) c.5219A>G (p.Gln1740Arg) c.2816A>G (p.Gln939Arg) | |
2 | g.237366965T>G | CA351187927 | COL6A3 | c.4604A>C (p.Gln1535Pro) c.5222A>C (p.Gln1741Pro) c.3401A>C (p.Gln1134Pro) c.4622A>C (p.Gln1541Pro) c.4001A>C (p.Gln1334Pro) c.4721A>C (p.Gln1574Pro) c.5219A>C (p.Gln1740Pro) c.2816A>C (p.Gln939Pro) | |
2 | g.237366965T= | CA1337620982 | COL6A3 | c.4604A= (p.Gln1535=) c.5222A= (p.Gln1741=) c.3401A= (p.Gln1134=) c.4622A= (p.Gln1541=) c.4001A= (p.Gln1334=) c.4721A= (p.Gln1574=) c.5219A= (p.Gln1740=) c.2816A= (p.Gln939=) | |
2 | g.237366966G>A | CA351187928 | COL6A3 | c.4603C>T (p.Gln1535Ter) c.5221C>T (p.Gln1741Ter) c.3400C>T (p.Gln1134Ter) c.4621C>T (p.Gln1541Ter) c.4000C>T (p.Gln1334Ter) c.4720C>T (p.Gln1574Ter) c.5218C>T (p.Gln1740Ter) c.2815C>T (p.Gln939Ter) | |
2 | g.237366966G>C | CA351187930 | COL6A3 | c.4603C>G (p.Gln1535Glu) c.5221C>G (p.Gln1741Glu) c.3400C>G (p.Gln1134Glu) c.4621C>G (p.Gln1541Glu) c.4000C>G (p.Gln1334Glu) c.4720C>G (p.Gln1574Glu) c.5218C>G (p.Gln1740Glu) c.2815C>G (p.Gln939Glu) | |
2 | g.237366966G>T | CA351187932 | COL6A3 | c.4603C>A (p.Gln1535Lys) c.5221C>A (p.Gln1741Lys) c.3400C>A (p.Gln1134Lys) c.4621C>A (p.Gln1541Lys) c.4000C>A (p.Gln1334Lys) c.4720C>A (p.Gln1574Lys) c.5218C>A (p.Gln1740Lys) c.2815C>A (p.Gln939Lys) | ClinVar |
2 | g.237366967G>A | CA431710688 | COL6A3 | c.4602C>T (p.Asp1534=) c.5220C>T (p.Asp1740=) c.3399C>T (p.Asp1133=) c.4620C>T (p.Asp1540=) c.3999C>T (p.Asp1333=) c.4719C>T (p.Asp1573=) c.5217C>T (p.Asp1739=) c.2814C>T (p.Asp938=) | |
2 | g.237366967G>C | CA351187933 | COL6A3 | c.4602C>G (p.Asp1534Glu) c.5220C>G (p.Asp1740Glu) c.3399C>G (p.Asp1133Glu) c.4620C>G (p.Asp1540Glu) c.3999C>G (p.Asp1333Glu) c.4719C>G (p.Asp1573Glu) c.5217C>G (p.Asp1739Glu) c.2814C>G (p.Asp938Glu) | |
2 | g.237366967G>T | CA351187935 | COL6A3 | c.4602C>A (p.Asp1534Glu) c.5220C>A (p.Asp1740Glu) c.3399C>A (p.Asp1133Glu) c.4620C>A (p.Asp1540Glu) c.3999C>A (p.Asp1333Glu) c.4719C>A (p.Asp1573Glu) c.5217C>A (p.Asp1739Glu) c.2814C>A (p.Asp938Glu) | |
2 | g.237366968T>A | CA351187937 | COL6A3 | c.4601A>T (p.Asp1534Val) c.5219A>T (p.Asp1740Val) c.3398A>T (p.Asp1133Val) c.4619A>T (p.Asp1540Val) c.3998A>T (p.Asp1333Val) c.4718A>T (p.Asp1573Val) c.5216A>T (p.Asp1739Val) c.2813A>T (p.Asp938Val) | |
2 | g.237366968T>C | CA351187939 | COL6A3 | c.4601A>G (p.Asp1534Gly) c.5219A>G (p.Asp1740Gly) c.3398A>G (p.Asp1133Gly) c.4619A>G (p.Asp1540Gly) c.3998A>G (p.Asp1333Gly) c.4718A>G (p.Asp1573Gly) c.5216A>G (p.Asp1739Gly) c.2813A>G (p.Asp938Gly) | |
2 | g.237366968T>G | CA351187942 | COL6A3 | c.4601A>C (p.Asp1534Ala) c.5219A>C (p.Asp1740Ala) c.3398A>C (p.Asp1133Ala) c.4619A>C (p.Asp1540Ala) c.3998A>C (p.Asp1333Ala) c.4718A>C (p.Asp1573Ala) c.5216A>C (p.Asp1739Ala) c.2813A>C (p.Asp938Ala) | |
2 | g.237366969C>A | CA351187948 | COL6A3 | c.4600G>T (p.Asp1534Tyr) c.5218G>T (p.Asp1740Tyr) c.3397G>T (p.Asp1133Tyr) c.4618G>T (p.Asp1540Tyr) c.3997G>T (p.Asp1333Tyr) c.4717G>T (p.Asp1573Tyr) c.5215G>T (p.Asp1739Tyr) c.2812G>T (p.Asp938Tyr) | |
2 | g.237366969C>G | CA351187947 | COL6A3 | c.4600G>C (p.Asp1534His) c.5218G>C (p.Asp1740His) c.3397G>C (p.Asp1133His) c.4618G>C (p.Asp1540His) c.3997G>C (p.Asp1333His) c.4717G>C (p.Asp1573His) c.5215G>C (p.Asp1739His) c.2812G>C (p.Asp938His) | |
2 | g.237366969C>T | CA351187945 | COL6A3 | c.4600G>A (p.Asp1534Asn) c.5218G>A (p.Asp1740Asn) c.3397G>A (p.Asp1133Asn) c.4618G>A (p.Asp1540Asn) c.3997G>A (p.Asp1333Asn) c.4717G>A (p.Asp1573Asn) c.5215G>A (p.Asp1739Asn) c.2812G>A (p.Asp938Asn) | COSMIC |
2 | g.237366970C>A | CA431710692 | COL6A3 | c.4599G>T (p.Leu1533=) c.5217G>T (p.Leu1739=) c.3396G>T (p.Leu1132=) c.4617G>T (p.Leu1539=) c.3996G>T (p.Leu1332=) c.4716G>T (p.Leu1572=) c.5214G>T (p.Leu1738=) c.2811G>T (p.Leu937=) | COSMIC |
2 | g.237366970C= | CA1337620983 | COL6A3 | c.4599G= (p.Leu1533=) c.5217G= (p.Leu1739=) c.3396G= (p.Leu1132=) c.4617G= (p.Leu1539=) c.3996G= (p.Leu1332=) c.4716G= (p.Leu1572=) c.5214G= (p.Leu1738=) c.2811G= (p.Leu937=) | |
2 | g.237366970C>G | CA431710693 | COL6A3 | c.4599G>C (p.Leu1533=) c.5217G>C (p.Leu1739=) c.3396G>C (p.Leu1132=) c.4617G>C (p.Leu1539=) c.3996G>C (p.Leu1332=) c.4716G>C (p.Leu1572=) c.5214G>C (p.Leu1738=) c.2811G>C (p.Leu937=) | dbSNP |
2 | g.237366970C>T | CA431710696 | COL6A3 | c.4599G>A (p.Leu1533=) c.5217G>A (p.Leu1739=) c.3396G>A (p.Leu1132=) c.4617G>A (p.Leu1539=) c.3996G>A (p.Leu1332=) c.4716G>A (p.Leu1572=) c.5214G>A (p.Leu1738=) c.2811G>A (p.Leu937=) | dbSNP COSMIC |
2 | g.237366971A= | CA1337620984 | COL6A3 | c.4598T= (p.Leu1533=) c.5216T= (p.Leu1739=) c.3395T= (p.Leu1132=) c.4616T= (p.Leu1539=) c.3995T= (p.Leu1332=) c.4715T= (p.Leu1572=) c.5213T= (p.Leu1738=) c.2810T= (p.Leu937=) | |
2 | g.237366971A>C | CA351187953 | COL6A3 | c.4598T>G (p.Leu1533Arg) c.5216T>G (p.Leu1739Arg) c.3395T>G (p.Leu1132Arg) c.4616T>G (p.Leu1539Arg) c.3995T>G (p.Leu1332Arg) c.4715T>G (p.Leu1572Arg) c.5213T>G (p.Leu1738Arg) c.2810T>G (p.Leu937Arg) | |
2 | g.237366971A>G | CA351187954 | COL6A3 | c.4598T>C (p.Leu1533Pro) c.5216T>C (p.Leu1739Pro) c.3395T>C (p.Leu1132Pro) c.4616T>C (p.Leu1539Pro) c.3995T>C (p.Leu1332Pro) c.4715T>C (p.Leu1572Pro) c.5213T>C (p.Leu1738Pro) c.2810T>C (p.Leu937Pro) | dbSNP |
2 | g.237366971A>T | CA351187957 | COL6A3 | c.4598T>A (p.Leu1533Gln) c.5216T>A (p.Leu1739Gln) c.3395T>A (p.Leu1132Gln) c.4616T>A (p.Leu1539Gln) c.3995T>A (p.Leu1332Gln) c.4715T>A (p.Leu1572Gln) c.5213T>A (p.Leu1738Gln) c.2810T>A (p.Leu937Gln) | |
2 | g.237366972G>A | CA431710697 | COL6A3 | c.4597C>T (p.Leu1533=) c.5215C>T (p.Leu1739=) c.3394C>T (p.Leu1132=) c.4615C>T (p.Leu1539=) c.3994C>T (p.Leu1332=) c.4714C>T (p.Leu1572=) c.5212C>T (p.Leu1738=) c.2809C>T (p.Leu937=) | |
2 | g.237366972G>C | CA351187959 | COL6A3 | c.4597C>G (p.Leu1533Val) c.5215C>G (p.Leu1739Val) c.3394C>G (p.Leu1132Val) c.4615C>G (p.Leu1539Val) c.3994C>G (p.Leu1332Val) c.4714C>G (p.Leu1572Val) c.5212C>G (p.Leu1738Val) c.2809C>G (p.Leu937Val) | |
2 | g.237366972G= | CA1337620985 | COL6A3 | c.4597C= (p.Leu1533=) c.5215C= (p.Leu1739=) c.3394C= (p.Leu1132=) c.4615C= (p.Leu1539=) c.3994C= (p.Leu1332=) c.4714C= (p.Leu1572=) c.5212C= (p.Leu1738=) c.2809C= (p.Leu937=) | |
2 | g.237366972G>T | CA351187962 | COL6A3 | c.4597C>A (p.Leu1533Met) c.5215C>A (p.Leu1739Met) c.3394C>A (p.Leu1132Met) c.4615C>A (p.Leu1539Met) c.3994C>A (p.Leu1332Met) c.4714C>A (p.Leu1572Met) c.5212C>A (p.Leu1738Met) c.2809C>A (p.Leu937Met) | ClinVar dbSNP gnomAD v4 |
2 | g.237366973G>A | CA431710699 | COL6A3 | c.4596C>T (p.Arg1532=) c.5214C>T (p.Arg1738=) c.3393C>T (p.Arg1131=) c.4614C>T (p.Arg1538=) c.3993C>T (p.Arg1331=) c.4713C>T (p.Arg1571=) c.5211C>T (p.Arg1737=) c.2808C>T (p.Arg936=) | ClinVar dbSNP |
2 | g.237366973G>C | CA431710700 | COL6A3 | c.4596C>G (p.Arg1532=) c.5214C>G (p.Arg1738=) c.3393C>G (p.Arg1131=) c.4614C>G (p.Arg1538=) c.3993C>G (p.Arg1331=) c.4713C>G (p.Arg1571=) c.5211C>G (p.Arg1737=) c.2808C>G (p.Arg936=) | |
2 | g.237366973G= | CA1337620986 | COL6A3 | c.4596C= (p.Arg1532=) c.5214C= (p.Arg1738=) c.3393C= (p.Arg1131=) c.4614C= (p.Arg1538=) c.3993C= (p.Arg1331=) c.4713C= (p.Arg1571=) c.5211C= (p.Arg1737=) c.2808C= (p.Arg936=) | |
2 | g.237366973G>T | CA431710701 | COL6A3 | c.4596C>A (p.Arg1532=) c.5214C>A (p.Arg1738=) c.3393C>A (p.Arg1131=) c.4614C>A (p.Arg1538=) c.3993C>A (p.Arg1331=) c.4713C>A (p.Arg1571=) c.5211C>A (p.Arg1737=) c.2808C>A (p.Arg936=) | |
2 | g.237366974C>A | CA351187964 | COL6A3 | c.4595G>T (p.Arg1532Leu) c.5213G>T (p.Arg1738Leu) c.3392G>T (p.Arg1131Leu) c.4613G>T (p.Arg1538Leu) c.3992G>T (p.Arg1331Leu) c.4712G>T (p.Arg1571Leu) c.5210G>T (p.Arg1737Leu) c.2807G>T (p.Arg936Leu) | gnomAD v4 |
2 | g.237366974C= | CA1337620987 | COL6A3 | c.4595G= (p.Arg1532=) c.5213G= (p.Arg1738=) c.3392G= (p.Arg1131=) c.4613G= (p.Arg1538=) c.3992G= (p.Arg1331=) c.4712G= (p.Arg1571=) c.5210G= (p.Arg1737=) c.2807G= (p.Arg936=) | |
2 | g.237366974C>G | CA351187966 | COL6A3 | c.4595G>C (p.Arg1532Pro) c.5213G>C (p.Arg1738Pro) c.3392G>C (p.Arg1131Pro) c.4613G>C (p.Arg1538Pro) c.3992G>C (p.Arg1331Pro) c.4712G>C (p.Arg1571Pro) c.5210G>C (p.Arg1737Pro) c.2807G>C (p.Arg936Pro) | |
2 | g.237366974C>T | CA2188719 | COL6A3 | c.4595G>A (p.Arg1532His) c.5213G>A (p.Arg1738His) c.3392G>A (p.Arg1131His) c.4613G>A (p.Arg1538His) c.3992G>A (p.Arg1331His) c.4712G>A (p.Arg1571His) c.5210G>A (p.Arg1737His) c.2807G>A (p.Arg936His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237366975G>A | CA67814486 | COL6A3 | c.4594C>T (p.Arg1532Cys) c.5212C>T (p.Arg1738Cys) c.3391C>T (p.Arg1131Cys) c.4612C>T (p.Arg1538Cys) c.3991C>T (p.Arg1331Cys) c.4711C>T (p.Arg1571Cys) c.5209C>T (p.Arg1737Cys) c.2806C>T (p.Arg936Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366975G>C | CA351187973 | COL6A3 | c.4594C>G (p.Arg1532Gly) c.5212C>G (p.Arg1738Gly) c.3391C>G (p.Arg1131Gly) c.4612C>G (p.Arg1538Gly) c.3991C>G (p.Arg1331Gly) c.4711C>G (p.Arg1571Gly) c.5209C>G (p.Arg1737Gly) c.2806C>G (p.Arg936Gly) | |
2 | g.237366975G= | CA1337620988 | COL6A3 | c.4594C= (p.Arg1532=) c.5212C= (p.Arg1738=) c.3391C= (p.Arg1131=) c.4612C= (p.Arg1538=) c.3991C= (p.Arg1331=) c.4711C= (p.Arg1571=) c.5209C= (p.Arg1737=) c.2806C= (p.Arg936=) | |
2 | g.237366975G>T | CA351187975 | COL6A3 | c.4594C>A (p.Arg1532Ser) c.5212C>A (p.Arg1738Ser) c.3391C>A (p.Arg1131Ser) c.4612C>A (p.Arg1538Ser) c.3991C>A (p.Arg1331Ser) c.4711C>A (p.Arg1571Ser) c.5209C>A (p.Arg1737Ser) c.2806C>A (p.Arg936Ser) | |
2 | g.237366976G>A | CA431710709 | COL6A3 | c.4593C>T (p.Ser1531=) c.5211C>T (p.Ser1737=) c.3390C>T (p.Ser1130=) c.4611C>T (p.Ser1537=) c.3990C>T (p.Ser1330=) c.4710C>T (p.Ser1570=) c.5208C>T (p.Ser1736=) c.2805C>T (p.Ser935=) | |
2 | g.237366976G>C | CA2188720 | COL6A3 | c.4593C>G (p.Ser1531Arg) c.5211C>G (p.Ser1737Arg) c.3390C>G (p.Ser1130Arg) c.4611C>G (p.Ser1537Arg) c.3990C>G (p.Ser1330Arg) c.4710C>G (p.Ser1570Arg) c.5208C>G (p.Ser1736Arg) c.2805C>G (p.Ser935Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366976G= | CA1337620989 | COL6A3 | c.4593C= (p.Ser1531=) c.5211C= (p.Ser1737=) c.3390C= (p.Ser1130=) c.4611C= (p.Ser1537=) c.3990C= (p.Ser1330=) c.4710C= (p.Ser1570=) c.5208C= (p.Ser1736=) c.2805C= (p.Ser935=) | |
2 | g.237366976G>T | CA351187978 | COL6A3 | c.4593C>A (p.Ser1531Arg) c.5211C>A (p.Ser1737Arg) c.3390C>A (p.Ser1130Arg) c.4611C>A (p.Ser1537Arg) c.3990C>A (p.Ser1330Arg) c.4710C>A (p.Ser1570Arg) c.5208C>A (p.Ser1736Arg) c.2805C>A (p.Ser935Arg) | |
2 | g.237366977C>A | CA351187983 | COL6A3 | c.4592G>T (p.Ser1531Ile) c.5210G>T (p.Ser1737Ile) c.3389G>T (p.Ser1130Ile) c.4610G>T (p.Ser1537Ile) c.3989G>T (p.Ser1330Ile) c.4709G>T (p.Ser1570Ile) c.5207G>T (p.Ser1736Ile) c.2804G>T (p.Ser935Ile) | |
2 | g.237366977C>G | CA351187985 | COL6A3 | c.4592G>C (p.Ser1531Thr) c.5210G>C (p.Ser1737Thr) c.3389G>C (p.Ser1130Thr) c.4610G>C (p.Ser1537Thr) c.3989G>C (p.Ser1330Thr) c.4709G>C (p.Ser1570Thr) c.5207G>C (p.Ser1736Thr) c.2804G>C (p.Ser935Thr) | dbSNP |
2 | g.237366977C>T | CA351187981 | COL6A3 | c.4592G>A (p.Ser1531Asn) c.5210G>A (p.Ser1737Asn) c.3389G>A (p.Ser1130Asn) c.4610G>A (p.Ser1537Asn) c.3989G>A (p.Ser1330Asn) c.4709G>A (p.Ser1570Asn) c.5207G>A (p.Ser1736Asn) c.2804G>A (p.Ser935Asn) | ClinVar gnomAD v4 |
2 | g.237366978T>A | CA351187988 | COL6A3 | c.4591A>T (p.Ser1531Cys) c.5209A>T (p.Ser1737Cys) c.3388A>T (p.Ser1130Cys) c.4609A>T (p.Ser1537Cys) c.3988A>T (p.Ser1330Cys) c.4708A>T (p.Ser1570Cys) c.5206A>T (p.Ser1736Cys) c.2803A>T (p.Ser935Cys) | |
2 | g.237366978T>C | CA351187989 | COL6A3 | c.4591A>G (p.Ser1531Gly) c.5209A>G (p.Ser1737Gly) c.3388A>G (p.Ser1130Gly) c.4609A>G (p.Ser1537Gly) c.3988A>G (p.Ser1330Gly) c.4708A>G (p.Ser1570Gly) c.5206A>G (p.Ser1736Gly) c.2803A>G (p.Ser935Gly) | |
2 | g.237366978T>G | CA351187991 | COL6A3 | c.4591A>C (p.Ser1531Arg) c.5209A>C (p.Ser1737Arg) c.3388A>C (p.Ser1130Arg) c.4609A>C (p.Ser1537Arg) c.3988A>C (p.Ser1330Arg) c.4708A>C (p.Ser1570Arg) c.5206A>C (p.Ser1736Arg) c.2803A>C (p.Ser935Arg) | |
2 | g.237366979G>A | CA431710714 | COL6A3 | c.4590C>T (p.Gly1530=) c.5208C>T (p.Gly1736=) c.3387C>T (p.Gly1129=) c.4608C>T (p.Gly1536=) c.3987C>T (p.Gly1329=) c.4707C>T (p.Gly1569=) c.5205C>T (p.Gly1735=) c.2802C>T (p.Gly934=) | |
2 | g.237366979G>C | CA431710715 | COL6A3 | c.4590C>G (p.Gly1530=) c.5208C>G (p.Gly1736=) c.3387C>G (p.Gly1129=) c.4608C>G (p.Gly1536=) c.3987C>G (p.Gly1329=) c.4707C>G (p.Gly1569=) c.5205C>G (p.Gly1735=) c.2802C>G (p.Gly934=) | |
2 | g.237366979G>T | CA431710716 | COL6A3 | c.4590C>A (p.Gly1530=) c.5208C>A (p.Gly1736=) c.3387C>A (p.Gly1129=) c.4608C>A (p.Gly1536=) c.3987C>A (p.Gly1329=) c.4707C>A (p.Gly1569=) c.5205C>A (p.Gly1735=) c.2802C>A (p.Gly934=) | |
2 | g.237366980C>A | CA351187994 | COL6A3 | c.4589G>T (p.Gly1530Val) c.5207G>T (p.Gly1736Val) c.3386G>T (p.Gly1129Val) c.4607G>T (p.Gly1536Val) c.3986G>T (p.Gly1329Val) c.4706G>T (p.Gly1569Val) c.5204G>T (p.Gly1735Val) c.2801G>T (p.Gly934Val) | |
2 | g.237366980C>G | CA351187995 | COL6A3 | c.4589G>C (p.Gly1530Ala) c.5207G>C (p.Gly1736Ala) c.3386G>C (p.Gly1129Ala) c.4607G>C (p.Gly1536Ala) c.3986G>C (p.Gly1329Ala) c.4706G>C (p.Gly1569Ala) c.5204G>C (p.Gly1735Ala) c.2801G>C (p.Gly934Ala) | |
2 | g.237366980C>T | CA351187998 | COL6A3 | c.4589G>A (p.Gly1530Asp) c.5207G>A (p.Gly1736Asp) c.3386G>A (p.Gly1129Asp) c.4607G>A (p.Gly1536Asp) c.3986G>A (p.Gly1329Asp) c.4706G>A (p.Gly1569Asp) c.5204G>A (p.Gly1735Asp) c.2801G>A (p.Gly934Asp) | COSMIC |
2 | g.237366981C>A | CA351188000 | COL6A3 | c.4588G>T (p.Gly1530Cys) c.5206G>T (p.Gly1736Cys) c.3385G>T (p.Gly1129Cys) c.4606G>T (p.Gly1536Cys) c.3985G>T (p.Gly1329Cys) c.4705G>T (p.Gly1569Cys) c.5203G>T (p.Gly1735Cys) c.2800G>T (p.Gly934Cys) | |
2 | g.237366981C>G | CA351188002 | COL6A3 | c.4588G>C (p.Gly1530Arg) c.5206G>C (p.Gly1736Arg) c.3385G>C (p.Gly1129Arg) c.4606G>C (p.Gly1536Arg) c.3985G>C (p.Gly1329Arg) c.4705G>C (p.Gly1569Arg) c.5203G>C (p.Gly1735Arg) c.2800G>C (p.Gly934Arg) | |
2 | g.237366981C>T | CA351188004 | COL6A3 | c.4588G>A (p.Gly1530Ser) c.5206G>A (p.Gly1736Ser) c.3385G>A (p.Gly1129Ser) c.4606G>A (p.Gly1536Ser) c.3985G>A (p.Gly1329Ser) c.4705G>A (p.Gly1569Ser) c.5203G>A (p.Gly1735Ser) c.2800G>A (p.Gly934Ser) | COSMIC |
2 | g.237366982T>A | CA431710720 | COL6A3 | c.4587A>T (p.Ala1529=) c.5205A>T (p.Ala1735=) c.3384A>T (p.Ala1128=) c.4605A>T (p.Ala1535=) c.3984A>T (p.Ala1328=) c.4704A>T (p.Ala1568=) c.5202A>T (p.Ala1734=) c.2799A>T (p.Ala933=) | |
2 | g.237366982T>C | CA431710721 | COL6A3 | c.4587A>G (p.Ala1529=) c.5205A>G (p.Ala1735=) c.3384A>G (p.Ala1128=) c.4605A>G (p.Ala1535=) c.3984A>G (p.Ala1328=) c.4704A>G (p.Ala1568=) c.5202A>G (p.Ala1734=) c.2799A>G (p.Ala933=) | dbSNP |
2 | g.237366982T>G | CA431710723 | COL6A3 | c.4587A>C (p.Ala1529=) c.5205A>C (p.Ala1735=) c.3384A>C (p.Ala1128=) c.4605A>C (p.Ala1535=) c.3984A>C (p.Ala1328=) c.4704A>C (p.Ala1568=) c.5202A>C (p.Ala1734=) c.2799A>C (p.Ala933=) | gnomAD v4 |
2 | g.237366982T= | CA1337620990 | COL6A3 | c.4587A= (p.Ala1529=) c.5205A= (p.Ala1735=) c.3384A= (p.Ala1128=) c.4605A= (p.Ala1535=) c.3984A= (p.Ala1328=) c.4704A= (p.Ala1568=) c.5202A= (p.Ala1734=) c.2799A= (p.Ala933=) | |
2 | g.237366983G>A | CA351188007 | COL6A3 | c.4586C>T (p.Ala1529Val) c.5204C>T (p.Ala1735Val) c.3383C>T (p.Ala1128Val) c.4604C>T (p.Ala1535Val) c.3983C>T (p.Ala1328Val) c.4703C>T (p.Ala1568Val) c.5201C>T (p.Ala1734Val) c.2798C>T (p.Ala933Val) | |
2 | g.237366983G>C | CA351188009 | COL6A3 | c.4586C>G (p.Ala1529Gly) c.5204C>G (p.Ala1735Gly) c.3383C>G (p.Ala1128Gly) c.4604C>G (p.Ala1535Gly) c.3983C>G (p.Ala1328Gly) c.4703C>G (p.Ala1568Gly) c.5201C>G (p.Ala1734Gly) c.2798C>G (p.Ala933Gly) | |
2 | g.237366983G= | CA1337620991 | COL6A3 | c.4586C= (p.Ala1529=) c.5204C= (p.Ala1735=) c.3383C= (p.Ala1128=) c.4604C= (p.Ala1535=) c.3983C= (p.Ala1328=) c.4703C= (p.Ala1568=) c.5201C= (p.Ala1734=) c.2798C= (p.Ala933=) | |
2 | g.237366983G>T | CA351188011 | COL6A3 | c.4586C>A (p.Ala1529Glu) c.5204C>A (p.Ala1735Glu) c.3383C>A (p.Ala1128Glu) c.4604C>A (p.Ala1535Glu) c.3983C>A (p.Ala1328Glu) c.4703C>A (p.Ala1568Glu) c.5201C>A (p.Ala1734Glu) c.2798C>A (p.Ala933Glu) | dbSNP gnomAD v2 |
2 | g.237366984C>A | CA10606460 | COL6A3 | c.4585G>T (p.Ala1529Ser) c.5203G>T (p.Ala1735Ser) c.3382G>T (p.Ala1128Ser) c.4603G>T (p.Ala1535Ser) c.3982G>T (p.Ala1328Ser) c.4702G>T (p.Ala1568Ser) c.5200G>T (p.Ala1734Ser) c.2797G>T (p.Ala933Ser) | ClinVar dbSNP |
2 | g.237366984C= | CA1337620992 | COL6A3 | c.4585G= (p.Ala1529=) c.5203G= (p.Ala1735=) c.3382G= (p.Ala1128=) c.4603G= (p.Ala1535=) c.3982G= (p.Ala1328=) c.4702G= (p.Ala1568=) c.5200G= (p.Ala1734=) c.2797G= (p.Ala933=) | |
2 | g.237366984C>G | CA351188013 | COL6A3 | c.4585G>C (p.Ala1529Pro) c.5203G>C (p.Ala1735Pro) c.3382G>C (p.Ala1128Pro) c.4603G>C (p.Ala1535Pro) c.3982G>C (p.Ala1328Pro) c.4702G>C (p.Ala1568Pro) c.5200G>C (p.Ala1734Pro) c.2797G>C (p.Ala933Pro) | |
2 | g.237366984C>T | CA351188015 | COL6A3 | c.4585G>A (p.Ala1529Thr) c.5203G>A (p.Ala1735Thr) c.3382G>A (p.Ala1128Thr) c.4603G>A (p.Ala1535Thr) c.3982G>A (p.Ala1328Thr) c.4702G>A (p.Ala1568Thr) c.5200G>A (p.Ala1734Thr) c.2797G>A (p.Ala933Thr) | gnomAD v4 COSMIC |
2 | g.237366985C>A | CA351188018 | COL6A3 | c.4584G>T (p.Glu1528Asp) c.5202G>T (p.Glu1734Asp) c.3381G>T (p.Glu1127Asp) c.4602G>T (p.Glu1534Asp) c.3981G>T (p.Glu1327Asp) c.4701G>T (p.Glu1567Asp) c.5199G>T (p.Glu1733Asp) c.2796G>T (p.Glu932Asp) | |
2 | g.237366985C>G | CA351188023 | COL6A3 | c.4584G>C (p.Glu1528Asp) c.5202G>C (p.Glu1734Asp) c.3381G>C (p.Glu1127Asp) c.4602G>C (p.Glu1534Asp) c.3981G>C (p.Glu1327Asp) c.4701G>C (p.Glu1567Asp) c.5199G>C (p.Glu1733Asp) c.2796G>C (p.Glu932Asp) | |
2 | g.237366985C>T | CA431710730 | COL6A3 | c.4584G>A (p.Glu1528=) c.5202G>A (p.Glu1734=) c.3381G>A (p.Glu1127=) c.4602G>A (p.Glu1534=) c.3981G>A (p.Glu1327=) c.4701G>A (p.Glu1567=) c.5199G>A (p.Glu1733=) c.2796G>A (p.Glu932=) | |
2 | g.237366986T>A | CA351188027 | COL6A3 | c.4583A>T (p.Glu1528Val) c.5201A>T (p.Glu1734Val) c.3380A>T (p.Glu1127Val) c.4601A>T (p.Glu1534Val) c.3980A>T (p.Glu1327Val) c.4700A>T (p.Glu1567Val) c.5198A>T (p.Glu1733Val) c.2795A>T (p.Glu932Val) | |
2 | g.237366986T>C | CA351188028 | COL6A3 | c.4583A>G (p.Glu1528Gly) c.5201A>G (p.Glu1734Gly) c.3380A>G (p.Glu1127Gly) c.4601A>G (p.Glu1534Gly) c.3980A>G (p.Glu1327Gly) c.4700A>G (p.Glu1567Gly) c.5198A>G (p.Glu1733Gly) c.2795A>G (p.Glu932Gly) | |
2 | g.237366986T>G | CA351188031 | COL6A3 | c.4583A>C (p.Glu1528Ala) c.5201A>C (p.Glu1734Ala) c.3380A>C (p.Glu1127Ala) c.4601A>C (p.Glu1534Ala) c.3980A>C (p.Glu1327Ala) c.4700A>C (p.Glu1567Ala) c.5198A>C (p.Glu1733Ala) c.2795A>C (p.Glu932Ala) | |
2 | g.237366987C>A | CA351188036 | COL6A3 | c.4582G>T (p.Glu1528Ter) c.5200G>T (p.Glu1734Ter) c.3379G>T (p.Glu1127Ter) c.4600G>T (p.Glu1534Ter) c.3979G>T (p.Glu1327Ter) c.4699G>T (p.Glu1567Ter) c.5197G>T (p.Glu1733Ter) c.2794G>T (p.Glu932Ter) | COSMIC |
2 | g.237366987C>G | CA351188038 | COL6A3 | c.4582G>C (p.Glu1528Gln) c.5200G>C (p.Glu1734Gln) c.3379G>C (p.Glu1127Gln) c.4600G>C (p.Glu1534Gln) c.3979G>C (p.Glu1327Gln) c.4699G>C (p.Glu1567Gln) c.5197G>C (p.Glu1733Gln) c.2794G>C (p.Glu932Gln) | |
2 | g.237366987C>T | CA351188040 | COL6A3 | c.4582G>A (p.Glu1528Lys) c.5200G>A (p.Glu1734Lys) c.3379G>A (p.Glu1127Lys) c.4600G>A (p.Glu1534Lys) c.3979G>A (p.Glu1327Lys) c.4699G>A (p.Glu1567Lys) c.5197G>A (p.Glu1733Lys) c.2794G>A (p.Glu932Lys) | gnomAD v4 |
2 | g.237366988A>C | CA431710732 | COL6A3 | c.4581T>G (p.Pro1527=) c.5199T>G (p.Pro1733=) c.3378T>G (p.Pro1126=) c.4599T>G (p.Pro1533=) c.3978T>G (p.Pro1326=) c.4698T>G (p.Pro1566=) c.5196T>G (p.Pro1732=) c.2793T>G (p.Pro931=) | gnomAD v4 |
2 | g.237366988A>G | CA431710734 | COL6A3 | c.4581T>C (p.Pro1527=) c.5199T>C (p.Pro1733=) c.3378T>C (p.Pro1126=) c.4599T>C (p.Pro1533=) c.3978T>C (p.Pro1326=) c.4698T>C (p.Pro1566=) c.5196T>C (p.Pro1732=) c.2793T>C (p.Pro931=) | gnomAD v4 |
2 | g.237366988A>T | CA431710733 | COL6A3 | c.4581T>A (p.Pro1527=) c.5199T>A (p.Pro1733=) c.3378T>A (p.Pro1126=) c.4599T>A (p.Pro1533=) c.3978T>A (p.Pro1326=) c.4698T>A (p.Pro1566=) c.5196T>A (p.Pro1732=) c.2793T>A (p.Pro931=) | |
2 | g.237366989G>A | CA351188042 | COL6A3 | c.4580C>T (p.Pro1527Leu) c.5198C>T (p.Pro1733Leu) c.3377C>T (p.Pro1126Leu) c.4598C>T (p.Pro1533Leu) c.3977C>T (p.Pro1326Leu) c.4697C>T (p.Pro1566Leu) c.5195C>T (p.Pro1732Leu) c.2792C>T (p.Pro931Leu) | |
2 | g.237366989G>C | CA351188044 | COL6A3 | c.4580C>G (p.Pro1527Arg) c.5198C>G (p.Pro1733Arg) c.3377C>G (p.Pro1126Arg) c.4598C>G (p.Pro1533Arg) c.3977C>G (p.Pro1326Arg) c.4697C>G (p.Pro1566Arg) c.5195C>G (p.Pro1732Arg) c.2792C>G (p.Pro931Arg) | |
2 | g.237366989G>T | CA351188048 | COL6A3 | c.4580C>A (p.Pro1527His) c.5198C>A (p.Pro1733His) c.3377C>A (p.Pro1126His) c.4598C>A (p.Pro1533His) c.3977C>A (p.Pro1326His) c.4697C>A (p.Pro1566His) c.5195C>A (p.Pro1732His) c.2792C>A (p.Pro931His) | |
2 | g.237366990G>A | CA351188053 | COL6A3 | c.4579C>T (p.Pro1527Ser) c.5197C>T (p.Pro1733Ser) c.3376C>T (p.Pro1126Ser) c.4597C>T (p.Pro1533Ser) c.3976C>T (p.Pro1326Ser) c.4696C>T (p.Pro1566Ser) c.5194C>T (p.Pro1732Ser) c.2791C>T (p.Pro931Ser) | |
2 | g.237366990G>C | CA351188056 | COL6A3 | c.4579C>G (p.Pro1527Ala) c.5197C>G (p.Pro1733Ala) c.3376C>G (p.Pro1126Ala) c.4597C>G (p.Pro1533Ala) c.3976C>G (p.Pro1326Ala) c.4696C>G (p.Pro1566Ala) c.5194C>G (p.Pro1732Ala) c.2791C>G (p.Pro931Ala) | |
2 | g.237366990G>T | CA351188052 | COL6A3 | c.4579C>A (p.Pro1527Thr) c.5197C>A (p.Pro1733Thr) c.3376C>A (p.Pro1126Thr) c.4597C>A (p.Pro1533Thr) c.3976C>A (p.Pro1326Thr) c.4696C>A (p.Pro1566Thr) c.5194C>A (p.Pro1732Thr) c.2791C>A (p.Pro931Thr) | |
2 | g.237366991C>A | CA431710740 | COL6A3 | c.4578G>T (p.Val1526=) c.5196G>T (p.Val1732=) c.3375G>T (p.Val1125=) c.4596G>T (p.Val1532=) c.3975G>T (p.Val1325=) c.4695G>T (p.Val1565=) c.5193G>T (p.Val1731=) c.2790G>T (p.Val930=) | |
2 | g.237366991C>G | CA431710738 | COL6A3 | c.4578G>C (p.Val1526=) c.5196G>C (p.Val1732=) c.3375G>C (p.Val1125=) c.4596G>C (p.Val1532=) c.3975G>C (p.Val1325=) c.4695G>C (p.Val1565=) c.5193G>C (p.Val1731=) c.2790G>C (p.Val930=) | |
2 | g.237366991C>T | CA431710739 | COL6A3 | c.4578G>A (p.Val1526=) c.5196G>A (p.Val1732=) c.3375G>A (p.Val1125=) c.4596G>A (p.Val1532=) c.3975G>A (p.Val1325=) c.4695G>A (p.Val1565=) c.5193G>A (p.Val1731=) c.2790G>A (p.Val930=) | gnomAD v4 |
2 | g.237366992A>C | CA351188063 | COL6A3 | c.4577T>G (p.Val1526Gly) c.5195T>G (p.Val1732Gly) c.3374T>G (p.Val1125Gly) c.4595T>G (p.Val1532Gly) c.3974T>G (p.Val1325Gly) c.4694T>G (p.Val1565Gly) c.5192T>G (p.Val1731Gly) c.2789T>G (p.Val930Gly) | |
2 | g.237366992A>G | CA351188060 | COL6A3 | c.4577T>C (p.Val1526Ala) c.5195T>C (p.Val1732Ala) c.3374T>C (p.Val1125Ala) c.4595T>C (p.Val1532Ala) c.3974T>C (p.Val1325Ala) c.4694T>C (p.Val1565Ala) c.5192T>C (p.Val1731Ala) c.2789T>C (p.Val930Ala) | gnomAD v4 |
2 | g.237366992A>T | CA351188065 | COL6A3 | c.4577T>A (p.Val1526Glu) c.5195T>A (p.Val1732Glu) c.3374T>A (p.Val1125Glu) c.4595T>A (p.Val1532Glu) c.3974T>A (p.Val1325Glu) c.4694T>A (p.Val1565Glu) c.5192T>A (p.Val1731Glu) c.2789T>A (p.Val930Glu) | |
2 | g.237366993C>A | CA351188067 | COL6A3 | c.4576G>T (p.Val1526Leu) c.5194G>T (p.Val1732Leu) c.3373G>T (p.Val1125Leu) c.4594G>T (p.Val1532Leu) c.3973G>T (p.Val1325Leu) c.4693G>T (p.Val1565Leu) c.5191G>T (p.Val1731Leu) c.2788G>T (p.Val930Leu) | |
2 | g.237366993C>G | CA351188069 | COL6A3 | c.4576G>C (p.Val1526Leu) c.5194G>C (p.Val1732Leu) c.3373G>C (p.Val1125Leu) c.4594G>C (p.Val1532Leu) c.3973G>C (p.Val1325Leu) c.4693G>C (p.Val1565Leu) c.5191G>C (p.Val1731Leu) c.2788G>C (p.Val930Leu) | |
2 | g.237366993C>T | CA351188071 | COL6A3 | c.4576G>A (p.Val1526Met) c.5194G>A (p.Val1732Met) c.3373G>A (p.Val1125Met) c.4594G>A (p.Val1532Met) c.3973G>A (p.Val1325Met) c.4693G>A (p.Val1565Met) c.5191G>A (p.Val1731Met) c.2788G>A (p.Val930Met) | |
2 | g.237366994A>C | CA351188074 | COL6A3 | c.4575T>G (p.Phe1525Leu) c.5193T>G (p.Phe1731Leu) c.3372T>G (p.Phe1124Leu) c.4593T>G (p.Phe1531Leu) c.3972T>G (p.Phe1324Leu) c.4692T>G (p.Phe1564Leu) c.5190T>G (p.Phe1730Leu) c.2787T>G (p.Phe929Leu) | |
2 | g.237366994A>G | CA431710745 | COL6A3 | c.4575T>C (p.Phe1525=) c.5193T>C (p.Phe1731=) c.3372T>C (p.Phe1124=) c.4593T>C (p.Phe1531=) c.3972T>C (p.Phe1324=) c.4692T>C (p.Phe1564=) c.5190T>C (p.Phe1730=) c.2787T>C (p.Phe929=) | |
2 | g.237366994A>T | CA351188075 | COL6A3 | c.4575T>A (p.Phe1525Leu) c.5193T>A (p.Phe1731Leu) c.3372T>A (p.Phe1124Leu) c.4593T>A (p.Phe1531Leu) c.3972T>A (p.Phe1324Leu) c.4692T>A (p.Phe1564Leu) c.5190T>A (p.Phe1730Leu) c.2787T>A (p.Phe929Leu) | |
2 | g.237366995A>C | CA351188077 | COL6A3 | c.4574T>G (p.Phe1525Cys) c.5192T>G (p.Phe1731Cys) c.3371T>G (p.Phe1124Cys) c.4592T>G (p.Phe1531Cys) c.3971T>G (p.Phe1324Cys) c.4691T>G (p.Phe1564Cys) c.5189T>G (p.Phe1730Cys) c.2786T>G (p.Phe929Cys) | |
2 | g.237366995A>G | CA351188080 | COL6A3 | c.4574T>C (p.Phe1525Ser) c.5192T>C (p.Phe1731Ser) c.3371T>C (p.Phe1124Ser) c.4592T>C (p.Phe1531Ser) c.3971T>C (p.Phe1324Ser) c.4691T>C (p.Phe1564Ser) c.5189T>C (p.Phe1730Ser) c.2786T>C (p.Phe929Ser) | gnomAD v4 |
2 | g.237366995A>T | CA351188083 | COL6A3 | c.4574T>A (p.Phe1525Tyr) c.5192T>A (p.Phe1731Tyr) c.3371T>A (p.Phe1124Tyr) c.4592T>A (p.Phe1531Tyr) c.3971T>A (p.Phe1324Tyr) c.4691T>A (p.Phe1564Tyr) c.5189T>A (p.Phe1730Tyr) c.2786T>A (p.Phe929Tyr) | |
2 | g.237366996A>C | CA351188088 | COL6A3 | c.4573T>G (p.Phe1525Val) c.5191T>G (p.Phe1731Val) c.3370T>G (p.Phe1124Val) c.4591T>G (p.Phe1531Val) c.3970T>G (p.Phe1324Val) c.4690T>G (p.Phe1564Val) c.5188T>G (p.Phe1730Val) c.2785T>G (p.Phe929Val) | gnomAD v4 |
2 | g.237366996A>G | CA351188091 | COL6A3 | c.4573T>C (p.Phe1525Leu) c.5191T>C (p.Phe1731Leu) c.3370T>C (p.Phe1124Leu) c.4591T>C (p.Phe1531Leu) c.3970T>C (p.Phe1324Leu) c.4690T>C (p.Phe1564Leu) c.5188T>C (p.Phe1730Leu) c.2785T>C (p.Phe929Leu) | |
2 | g.237366996A>T | CA351188095 | COL6A3 | c.4573T>A (p.Phe1525Ile) c.5191T>A (p.Phe1731Ile) c.3370T>A (p.Phe1124Ile) c.4591T>A (p.Phe1531Ile) c.3970T>A (p.Phe1324Ile) c.4690T>A (p.Phe1564Ile) c.5188T>A (p.Phe1730Ile) c.2785T>A (p.Phe929Ile) | |
2 | g.237366997G>A | CA431710750 | COL6A3 | c.4572C>T (p.His1524=) c.5190C>T (p.His1730=) c.3369C>T (p.His1123=) c.4590C>T (p.His1530=) c.3969C>T (p.His1323=) c.4689C>T (p.His1563=) c.5187C>T (p.His1729=) c.2784C>T (p.His928=) | |
2 | g.237366997G>C | CA351188098 | COL6A3 | c.4572C>G (p.His1524Gln) c.5190C>G (p.His1730Gln) c.3369C>G (p.His1123Gln) c.4590C>G (p.His1530Gln) c.3969C>G (p.His1323Gln) c.4689C>G (p.His1563Gln) c.5187C>G (p.His1729Gln) c.2784C>G (p.His928Gln) | |
2 | g.237366997G>T | CA351188101 | COL6A3 | c.4572C>A (p.His1524Gln) c.5190C>A (p.His1730Gln) c.3369C>A (p.His1123Gln) c.4590C>A (p.His1530Gln) c.3969C>A (p.His1323Gln) c.4689C>A (p.His1563Gln) c.5187C>A (p.His1729Gln) c.2784C>A (p.His928Gln) | |
2 | g.237366998T>A | CA351188116 | COL6A3 | c.4571A>T (p.His1524Leu) c.5189A>T (p.His1730Leu) c.3368A>T (p.His1123Leu) c.4589A>T (p.His1530Leu) c.3968A>T (p.His1323Leu) c.4688A>T (p.His1563Leu) c.5186A>T (p.His1729Leu) c.2783A>T (p.His928Leu) | |
2 | g.237366998T>C | CA351188105 | COL6A3 | c.4571A>G (p.His1524Arg) c.5189A>G (p.His1730Arg) c.3368A>G (p.His1123Arg) c.4589A>G (p.His1530Arg) c.3968A>G (p.His1323Arg) c.4688A>G (p.His1563Arg) c.5186A>G (p.His1729Arg) c.2783A>G (p.His928Arg) | |
2 | g.237366998T>G | CA351188107 | COL6A3 | c.4571A>C (p.His1524Pro) c.5189A>C (p.His1730Pro) c.3368A>C (p.His1123Pro) c.4589A>C (p.His1530Pro) c.3968A>C (p.His1323Pro) c.4688A>C (p.His1563Pro) c.5186A>C (p.His1729Pro) c.2783A>C (p.His928Pro) | |
2 | g.237366999G>A | CA351188120 | COL6A3 | c.4570C>T (p.His1524Tyr) c.5188C>T (p.His1730Tyr) c.3367C>T (p.His1123Tyr) c.4588C>T (p.His1530Tyr) c.3967C>T (p.His1323Tyr) c.4687C>T (p.His1563Tyr) c.5185C>T (p.His1729Tyr) c.2782C>T (p.His928Tyr) | |
2 | g.237366999G>C | CA351188123 | COL6A3 | c.4570C>G (p.His1524Asp) c.5188C>G (p.His1730Asp) c.3367C>G (p.His1123Asp) c.4588C>G (p.His1530Asp) c.3967C>G (p.His1323Asp) c.4687C>G (p.His1563Asp) c.5185C>G (p.His1729Asp) c.2782C>G (p.His928Asp) | |
2 | g.237366999G>T | CA351188125 | COL6A3 | c.4570C>A (p.His1524Asn) c.5188C>A (p.His1730Asn) c.3367C>A (p.His1123Asn) c.4588C>A (p.His1530Asn) c.3967C>A (p.His1323Asn) c.4687C>A (p.His1563Asn) c.5185C>A (p.His1729Asn) c.2782C>A (p.His928Asn) | |
2 | g.237367000G>A | CA431710756 | COL6A3 | c.4569C>T (p.Asn1523=) c.5187C>T (p.Asn1729=) c.3366C>T (p.Asn1122=) c.4587C>T (p.Asn1529=) c.3966C>T (p.Asn1322=) c.4686C>T (p.Asn1562=) c.5184C>T (p.Asn1728=) c.2781C>T (p.Asn927=) | gnomAD v4 |
2 | g.237367000G>C | CA351188129 | COL6A3 | c.4569C>G (p.Asn1523Lys) c.5187C>G (p.Asn1729Lys) c.3366C>G (p.Asn1122Lys) c.4587C>G (p.Asn1529Lys) c.3966C>G (p.Asn1322Lys) c.4686C>G (p.Asn1562Lys) c.5184C>G (p.Asn1728Lys) c.2781C>G (p.Asn927Lys) | |
2 | g.237367000G>T | CA351188132 | COL6A3 | c.4569C>A (p.Asn1523Lys) c.5187C>A (p.Asn1729Lys) c.3366C>A (p.Asn1122Lys) c.4587C>A (p.Asn1529Lys) c.3966C>A (p.Asn1322Lys) c.4686C>A (p.Asn1562Lys) c.5184C>A (p.Asn1728Lys) c.2781C>A (p.Asn927Lys) | gnomAD v4 |
2 | g.237367001T>A | CA351188136 | COL6A3 | c.4568A>T (p.Asn1523Ile) c.5186A>T (p.Asn1729Ile) c.3365A>T (p.Asn1122Ile) c.4586A>T (p.Asn1529Ile) c.3965A>T (p.Asn1322Ile) c.4685A>T (p.Asn1562Ile) c.5183A>T (p.Asn1728Ile) c.2780A>T (p.Asn927Ile) | |
2 | g.237367001T>C | CA351188139 | COL6A3 | c.4568A>G (p.Asn1523Ser) c.5186A>G (p.Asn1729Ser) c.3365A>G (p.Asn1122Ser) c.4586A>G (p.Asn1529Ser) c.3965A>G (p.Asn1322Ser) c.4685A>G (p.Asn1562Ser) c.5183A>G (p.Asn1728Ser) c.2780A>G (p.Asn927Ser) | |
2 | g.237367001T>G | CA351188140 | COL6A3 | c.4568A>C (p.Asn1523Thr) c.5186A>C (p.Asn1729Thr) c.3365A>C (p.Asn1122Thr) c.4586A>C (p.Asn1529Thr) c.3965A>C (p.Asn1322Thr) c.4685A>C (p.Asn1562Thr) c.5183A>C (p.Asn1728Thr) c.2780A>C (p.Asn927Thr) | dbSNP |
2 | g.237367001T= | CA1337620993 | COL6A3 | c.4568A= (p.Asn1523=) c.5186A= (p.Asn1729=) c.3365A= (p.Asn1122=) c.4586A= (p.Asn1529=) c.3965A= (p.Asn1322=) c.4685A= (p.Asn1562=) c.5183A= (p.Asn1728=) c.2780A= (p.Asn927=) | |
2 | g.237367002T>A | CA351188146 | COL6A3 | c.4567A>T (p.Asn1523Tyr) c.5185A>T (p.Asn1729Tyr) c.3364A>T (p.Asn1122Tyr) c.4585A>T (p.Asn1529Tyr) c.3964A>T (p.Asn1322Tyr) c.4684A>T (p.Asn1562Tyr) c.5182A>T (p.Asn1728Tyr) c.2779A>T (p.Asn927Tyr) | dbSNP |
2 | g.237367002T>C | CA351188148 | COL6A3 | c.4567A>G (p.Asn1523Asp) c.5185A>G (p.Asn1729Asp) c.3364A>G (p.Asn1122Asp) c.4585A>G (p.Asn1529Asp) c.3964A>G (p.Asn1322Asp) c.4684A>G (p.Asn1562Asp) c.5182A>G (p.Asn1728Asp) c.2779A>G (p.Asn927Asp) | |
2 | g.237367002T>G | CA351188151 | COL6A3 | c.4567A>C (p.Asn1523His) c.5185A>C (p.Asn1729His) c.3364A>C (p.Asn1122His) c.4585A>C (p.Asn1529His) c.3964A>C (p.Asn1322His) c.4684A>C (p.Asn1562His) c.5182A>C (p.Asn1728His) c.2779A>C (p.Asn927His) | |
2 | g.237367002T= | CA1337620994 | COL6A3 | c.4567A= (p.Asn1523=) c.5185A= (p.Asn1729=) c.3364A= (p.Asn1122=) c.4585A= (p.Asn1529=) c.3964A= (p.Asn1322=) c.4684A= (p.Asn1562=) c.5182A= (p.Asn1728=) c.2779A= (p.Asn927=) | |
2 | g.237367003T>A | CA431710766 | COL6A3 | c.4566A>T (p.Val1522=) c.5184A>T (p.Val1728=) c.3363A>T (p.Val1121=) c.4584A>T (p.Val1528=) c.3963A>T (p.Val1321=) c.4683A>T (p.Val1561=) c.5181A>T (p.Val1727=) c.2778A>T (p.Val926=) | |
2 | g.237367003T>C | CA431710764 | COL6A3 | c.4566A>G (p.Val1522=) c.5184A>G (p.Val1728=) c.3363A>G (p.Val1121=) c.4584A>G (p.Val1528=) c.3963A>G (p.Val1321=) c.4683A>G (p.Val1561=) c.5181A>G (p.Val1727=) c.2778A>G (p.Val926=) | |
2 | g.237367003T>G | CA431710765 | COL6A3 | c.4566A>C (p.Val1522=) c.5184A>C (p.Val1728=) c.3363A>C (p.Val1121=) c.4584A>C (p.Val1528=) c.3963A>C (p.Val1321=) c.4683A>C (p.Val1561=) c.5181A>C (p.Val1727=) c.2778A>C (p.Val926=) | |
2 | g.237367004A>C | CA351188161 | COL6A3 | c.4565T>G (p.Val1522Gly) c.5183T>G (p.Val1728Gly) c.3362T>G (p.Val1121Gly) c.4583T>G (p.Val1528Gly) c.3962T>G (p.Val1321Gly) c.4682T>G (p.Val1561Gly) c.5180T>G (p.Val1727Gly) c.2777T>G (p.Val926Gly) | |
2 | g.237367004A>G | CA351188158 | COL6A3 | c.4565T>C (p.Val1522Ala) c.5183T>C (p.Val1728Ala) c.3362T>C (p.Val1121Ala) c.4583T>C (p.Val1528Ala) c.3962T>C (p.Val1321Ala) c.4682T>C (p.Val1561Ala) c.5180T>C (p.Val1727Ala) c.2777T>C (p.Val926Ala) | COSMIC |
2 | g.237367004A>T | CA351188155 | COL6A3 | c.4565T>A (p.Val1522Glu) c.5183T>A (p.Val1728Glu) c.3362T>A (p.Val1121Glu) c.4583T>A (p.Val1528Glu) c.3962T>A (p.Val1321Glu) c.4682T>A (p.Val1561Glu) c.5180T>A (p.Val1727Glu) c.2777T>A (p.Val926Glu) | |
2 | g.237367005C>A | CA351188164 | COL6A3 | c.4564G>T (p.Val1522Leu) c.5182G>T (p.Val1728Leu) c.3361G>T (p.Val1121Leu) c.4582G>T (p.Val1528Leu) c.3961G>T (p.Val1321Leu) c.4681G>T (p.Val1561Leu) c.5179G>T (p.Val1727Leu) c.2776G>T (p.Val926Leu) | COSMIC |
2 | g.237367005C= | CA1337620995 | COL6A3 | c.4564G= (p.Val1522=) c.5182G= (p.Val1728=) c.3361G= (p.Val1121=) c.4582G= (p.Val1528=) c.3961G= (p.Val1321=) c.4681G= (p.Val1561=) c.5179G= (p.Val1727=) c.2776G= (p.Val926=) | |
2 | g.237367005C>G | CA351188169 | COL6A3 | c.4564G>C (p.Val1522Leu) c.5182G>C (p.Val1728Leu) c.3361G>C (p.Val1121Leu) c.4582G>C (p.Val1528Leu) c.3961G>C (p.Val1321Leu) c.4681G>C (p.Val1561Leu) c.5179G>C (p.Val1727Leu) c.2776G>C (p.Val926Leu) | |
2 | g.237367005C>T | CA2188721 | COL6A3 | c.4564G>A (p.Val1522Ile) c.5182G>A (p.Val1728Ile) c.3361G>A (p.Val1121Ile) c.4582G>A (p.Val1528Ile) c.3961G>A (p.Val1321Ile) c.4681G>A (p.Val1561Ile) c.5179G>A (p.Val1727Ile) c.2776G>A (p.Val926Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237367006C>A | CA431710771 | COL6A3 | c.4563G>T (p.Arg1521=) c.5181G>T (p.Arg1727=) c.3360G>T (p.Arg1120=) c.4581G>T (p.Arg1527=) c.3960G>T (p.Arg1320=) c.4680G>T (p.Arg1560=) c.5178G>T (p.Arg1726=) c.2775G>T (p.Arg925=) | dbSNP gnomAD v4 |
2 | g.237367006C= | CA1337620996 | COL6A3 | c.4563G= (p.Arg1521=) c.5181G= (p.Arg1727=) c.3360G= (p.Arg1120=) c.4581G= (p.Arg1527=) c.3960G= (p.Arg1320=) c.4680G= (p.Arg1560=) c.5178G= (p.Arg1726=) c.2775G= (p.Arg925=) | |
2 | g.237367006C>G | CA2188722 | COL6A3 | c.4563G>C (p.Arg1521=) c.5181G>C (p.Arg1727=) c.3360G>C (p.Arg1120=) c.4581G>C (p.Arg1527=) c.3960G>C (p.Arg1320=) c.4680G>C (p.Arg1560=) c.5178G>C (p.Arg1726=) c.2775G>C (p.Arg925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237367006C>T | CA431710772 | COL6A3 | c.4563G>A (p.Arg1521=) c.5181G>A (p.Arg1727=) c.3360G>A (p.Arg1120=) c.4581G>A (p.Arg1527=) c.3960G>A (p.Arg1320=) c.4680G>A (p.Arg1560=) c.5178G>A (p.Arg1726=) c.2775G>A (p.Arg925=) | |
2 | g.237367007C>A | CA351188180 | COL6A3 | c.4562G>T (p.Arg1521Leu) c.5180G>T (p.Arg1727Leu) c.3359G>T (p.Arg1120Leu) c.4580G>T (p.Arg1527Leu) c.3959G>T (p.Arg1320Leu) c.4679G>T (p.Arg1560Leu) c.5177G>T (p.Arg1726Leu) c.2774G>T (p.Arg925Leu) | |
2 | g.237367007C= | CA1337620997 | COL6A3 | c.4562G= (p.Arg1521=) c.5180G= (p.Arg1727=) c.3359G= (p.Arg1120=) c.4580G= (p.Arg1527=) c.3959G= (p.Arg1320=) c.4679G= (p.Arg1560=) c.5177G= (p.Arg1726=) c.2774G= (p.Arg925=) | |
2 | g.237367007C>G | CA351188181 | COL6A3 | c.4562G>C (p.Arg1521Pro) c.5180G>C (p.Arg1727Pro) c.3359G>C (p.Arg1120Pro) c.4580G>C (p.Arg1527Pro) c.3959G>C (p.Arg1320Pro) c.4679G>C (p.Arg1560Pro) c.5177G>C (p.Arg1726Pro) c.2774G>C (p.Arg925Pro) | |
2 | g.237367007C>T | CA2188723 | COL6A3 | c.4562G>A (p.Arg1521Gln) c.5180G>A (p.Arg1727Gln) c.3359G>A (p.Arg1120Gln) c.4580G>A (p.Arg1527Gln) c.3959G>A (p.Arg1320Gln) c.4679G>A (p.Arg1560Gln) c.5177G>A (p.Arg1726Gln) c.2774G>A (p.Arg925Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237367008G>A | CA2188724 | COL6A3 | c.4561C>T (p.Arg1521Trp) c.5179C>T (p.Arg1727Trp) c.3358C>T (p.Arg1120Trp) c.4579C>T (p.Arg1527Trp) c.3958C>T (p.Arg1320Trp) c.4678C>T (p.Arg1560Trp) c.5176C>T (p.Arg1726Trp) c.2773C>T (p.Arg925Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237367008G>C | CA351188188 | COL6A3 | c.4561C>G (p.Arg1521Gly) c.5179C>G (p.Arg1727Gly) c.3358C>G (p.Arg1120Gly) c.4579C>G (p.Arg1527Gly) c.3958C>G (p.Arg1320Gly) c.4678C>G (p.Arg1560Gly) c.5176C>G (p.Arg1726Gly) c.2773C>G (p.Arg925Gly) | |
2 | g.237367008G= | CA1337620998 | COL6A3 | c.4561C= (p.Arg1521=) c.5179C= (p.Arg1727=) c.3358C= (p.Arg1120=) c.4579C= (p.Arg1527=) c.3958C= (p.Arg1320=) c.4678C= (p.Arg1560=) c.5176C= (p.Arg1726=) c.2773C= (p.Arg925=) | |
2 | g.237367008G>T | CA431710776 | COL6A3 | c.4561C>A (p.Arg1521=) c.5179C>A (p.Arg1727=) c.3358C>A (p.Arg1120=) c.4579C>A (p.Arg1527=) c.3958C>A (p.Arg1320=) c.4678C>A (p.Arg1560=) c.5176C>A (p.Arg1726=) c.2773C>A (p.Arg925=) | |
2 | g.237367009C>A | CA431710777 | COL6A3 | c.4560G>T (p.Leu1520=) c.5178G>T (p.Leu1726=) c.3357G>T (p.Leu1119=) c.4578G>T (p.Leu1526=) c.3957G>T (p.Leu1319=) c.4677G>T (p.Leu1559=) c.5175G>T (p.Leu1725=) c.2772G>T (p.Leu924=) | |
2 | g.237367009C= | CA1337620999 | COL6A3 | c.4560G= (p.Leu1520=) c.5178G= (p.Leu1726=) c.3357G= (p.Leu1119=) c.4578G= (p.Leu1526=) c.3957G= (p.Leu1319=) c.4677G= (p.Leu1559=) c.5175G= (p.Leu1725=) c.2772G= (p.Leu924=) | |
2 | g.237367009C>G | CA431710778 | COL6A3 | c.4560G>C (p.Leu1520=) c.5178G>C (p.Leu1726=) c.3357G>C (p.Leu1119=) c.4578G>C (p.Leu1526=) c.3957G>C (p.Leu1319=) c.4677G>C (p.Leu1559=) c.5175G>C (p.Leu1725=) c.2772G>C (p.Leu924=) | |
2 | g.237367009C>T | CA67814512 | COL6A3 | c.4560G>A (p.Leu1520=) c.5178G>A (p.Leu1726=) c.3357G>A (p.Leu1119=) c.4578G>A (p.Leu1526=) c.3957G>A (p.Leu1319=) c.4677G>A (p.Leu1559=) c.5175G>A (p.Leu1725=) c.2772G>A (p.Leu924=) | dbSNP |
2 | g.237367010A= | CA1337621000 | COL6A3 | c.4559T= (p.Leu1520=) c.5177T= (p.Leu1726=) c.3356T= (p.Leu1119=) c.4577T= (p.Leu1526=) c.3956T= (p.Leu1319=) c.4676T= (p.Leu1559=) c.5174T= (p.Leu1725=) c.2771T= (p.Leu924=) | |
2 | g.237367010A>C | CA257718 | COL6A3 | c.4559T>G (p.Leu1520Arg) c.5177T>G (p.Leu1726Arg) c.3356T>G (p.Leu1119Arg) c.4577T>G (p.Leu1526Arg) c.3956T>G (p.Leu1319Arg) c.4676T>G (p.Leu1559Arg) c.5174T>G (p.Leu1725Arg) c.2771T>G (p.Leu924Arg) | ClinVar dbSNP |
2 | g.237367010A>G | CA351188195 | COL6A3 | c.4559T>C (p.Leu1520Pro) c.5177T>C (p.Leu1726Pro) c.3356T>C (p.Leu1119Pro) c.4577T>C (p.Leu1526Pro) c.3956T>C (p.Leu1319Pro) c.4676T>C (p.Leu1559Pro) c.5174T>C (p.Leu1725Pro) c.2771T>C (p.Leu924Pro) | |
2 | g.237367010A>T | CA351188199 | COL6A3 | c.4559T>A (p.Leu1520Gln) c.5177T>A (p.Leu1726Gln) c.3356T>A (p.Leu1119Gln) c.4577T>A (p.Leu1526Gln) c.3956T>A (p.Leu1319Gln) c.4676T>A (p.Leu1559Gln) c.5174T>A (p.Leu1725Gln) c.2771T>A (p.Leu924Gln) | |
2 | g.237367013_237367021del | CA2586965623 | COL6A3 | c.4551_4559del (p.Glu1518_Leu1520del) c.5169_5177del (p.Glu1724_Leu1726del) c.3348_3356del (p.Glu1117_Leu1119del) c.4569_4577del (p.Glu1524_Leu1526del) c.3948_3956del (p.Glu1317_Leu1319del) c.4668_4676del (p.Glu1557_Leu1559del) c.5166_5174del (p.Glu1723_Leu1725del) c.2763_2771del (p.Glu922_Leu924del) | |
2 | g.237367011G>A | CA431710779 | COL6A3 | c.4558C>T (p.Leu1520=) c.5176C>T (p.Leu1726=) c.3355C>T (p.Leu1119=) c.4576C>T (p.Leu1526=) c.3955C>T (p.Leu1319=) c.4675C>T (p.Leu1559=) c.5173C>T (p.Leu1725=) c.2770C>T (p.Leu924=) | |
2 | g.237367011G>C | CA351188201 | COL6A3 | c.4558C>G (p.Leu1520Val) c.5176C>G (p.Leu1726Val) c.3355C>G (p.Leu1119Val) c.4576C>G (p.Leu1526Val) c.3955C>G (p.Leu1319Val) c.4675C>G (p.Leu1559Val) c.5173C>G (p.Leu1725Val) c.2770C>G (p.Leu924Val) | |
2 | g.237367011G>T | CA351188204 | COL6A3 | c.4558C>A (p.Leu1520Met) c.5176C>A (p.Leu1726Met) c.3355C>A (p.Leu1119Met) c.4576C>A (p.Leu1526Met) c.3955C>A (p.Leu1319Met) c.4675C>A (p.Leu1559Met) c.5173C>A (p.Leu1725Met) c.2770C>A (p.Leu924Met) | ClinVar dbSNP |
2 | g.237367012G>A | CA431710780 | COL6A3 | c.4557C>T (p.His1519=) c.5175C>T (p.His1725=) c.3354C>T (p.His1118=) c.4575C>T (p.His1525=) c.3954C>T (p.His1318=) c.4674C>T (p.His1558=) c.5172C>T (p.His1724=) c.2769C>T (p.His923=) | |
2 | g.237367012G>C | CA351188205 | COL6A3 | c.4557C>G (p.His1519Gln) c.5175C>G (p.His1725Gln) c.3354C>G (p.His1118Gln) c.4575C>G (p.His1525Gln) c.3954C>G (p.His1318Gln) c.4674C>G (p.His1558Gln) c.5172C>G (p.His1724Gln) c.2769C>G (p.His923Gln) | |
2 | g.237367012G>T | CA351188206 | COL6A3 | c.4557C>A (p.His1519Gln) c.5175C>A (p.His1725Gln) c.3354C>A (p.His1118Gln) c.4575C>A (p.His1525Gln) c.3954C>A (p.His1318Gln) c.4674C>A (p.His1558Gln) c.5172C>A (p.His1724Gln) c.2769C>A (p.His923Gln) | gnomAD v4 |
2 | g.237367013T>A | CA351188208 | COL6A3 | c.4556A>T (p.His1519Leu) c.5174A>T (p.His1725Leu) c.3353A>T (p.His1118Leu) c.4574A>T (p.His1525Leu) c.3953A>T (p.His1318Leu) c.4673A>T (p.His1558Leu) c.5171A>T (p.His1724Leu) c.2768A>T (p.His923Leu) | |
2 | g.237367013T>C | CA351188209 | COL6A3 | c.4556A>G (p.His1519Arg) c.5174A>G (p.His1725Arg) c.3353A>G (p.His1118Arg) c.4574A>G (p.His1525Arg) c.3953A>G (p.His1318Arg) c.4673A>G (p.His1558Arg) c.5171A>G (p.His1724Arg) c.2768A>G (p.His923Arg) | |
2 | g.237367013T>G | CA351188212 | COL6A3 | c.4556A>C (p.His1519Pro) c.5174A>C (p.His1725Pro) c.3353A>C (p.His1118Pro) c.4574A>C (p.His1525Pro) c.3953A>C (p.His1318Pro) c.4673A>C (p.His1558Pro) c.5171A>C (p.His1724Pro) c.2768A>C (p.His923Pro) | ClinVar dbSNP |
2 | g.237367013T= | CA1337621001 | COL6A3 | c.4556A= (p.His1519=) c.5174A= (p.His1725=) c.3353A= (p.His1118=) c.4574A= (p.His1525=) c.3953A= (p.His1318=) c.4673A= (p.His1558=) c.5171A= (p.His1724=) c.2768A= (p.His923=) | |
2 | g.237367014G>A | CA2188725 | COL6A3 | c.4555C>T (p.His1519Tyr) c.5173C>T (p.His1725Tyr) c.3352C>T (p.His1118Tyr) c.4573C>T (p.His1525Tyr) c.3952C>T (p.His1318Tyr) c.4672C>T (p.His1558Tyr) c.5170C>T (p.His1724Tyr) c.2767C>T (p.His923Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237367014G>C | CA351188215 | COL6A3 | c.4555C>G (p.His1519Asp) c.5173C>G (p.His1725Asp) c.3352C>G (p.His1118Asp) c.4573C>G (p.His1525Asp) c.3952C>G (p.His1318Asp) c.4672C>G (p.His1558Asp) c.5170C>G (p.His1724Asp) c.2767C>G (p.His923Asp) | |
2 | g.237367014G= | CA1337621002 | COL6A3 | c.4555C= (p.His1519=) c.5173C= (p.His1725=) c.3352C= (p.His1118=) c.4573C= (p.His1525=) c.3952C= (p.His1318=) c.4672C= (p.His1558=) c.5170C= (p.His1724=) c.2767C= (p.His923=) | |
2 | g.237367014G>T | CA351188216 | COL6A3 | c.4555C>A (p.His1519Asn) c.5173C>A (p.His1725Asn) c.3352C>A (p.His1118Asn) c.4573C>A (p.His1525Asn) c.3952C>A (p.His1318Asn) c.4672C>A (p.His1558Asn) c.5170C>A (p.His1724Asn) c.2767C>A (p.His923Asn) | |
2 | g.237367015C>A | CA351188217 | COL6A3 | c.4554G>T (p.Glu1518Asp) c.5172G>T (p.Glu1724Asp) c.3351G>T (p.Glu1117Asp) c.4572G>T (p.Glu1524Asp) c.3951G>T (p.Glu1317Asp) c.4671G>T (p.Glu1557Asp) c.5169G>T (p.Glu1723Asp) c.2766G>T (p.Glu922Asp) | |
2 | g.237367015C= | CA1337621003 | COL6A3 | c.4554G= (p.Glu1518=) c.5172G= (p.Glu1724=) c.3351G= (p.Glu1117=) c.4572G= (p.Glu1524=) c.3951G= (p.Glu1317=) c.4671G= (p.Glu1557=) c.5169G= (p.Glu1723=) c.2766G= (p.Glu922=) | |
2 | g.237367015C>G | CA351188218 | COL6A3 | c.4554G>C (p.Glu1518Asp) c.5172G>C (p.Glu1724Asp) c.3351G>C (p.Glu1117Asp) c.4572G>C (p.Glu1524Asp) c.3951G>C (p.Glu1317Asp) c.4671G>C (p.Glu1557Asp) c.5169G>C (p.Glu1723Asp) c.2766G>C (p.Glu922Asp) | |
2 | g.237367015C>T | CA67814531 | COL6A3 | c.4554G>A (p.Glu1518=) c.5172G>A (p.Glu1724=) c.3351G>A (p.Glu1117=) c.4572G>A (p.Glu1524=) c.3951G>A (p.Glu1317=) c.4671G>A (p.Glu1557=) c.5169G>A (p.Glu1723=) c.2766G>A (p.Glu922=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237367016T>A | CA351188221 | COL6A3 | c.4553A>T (p.Glu1518Val) c.5171A>T (p.Glu1724Val) c.3350A>T (p.Glu1117Val) c.4571A>T (p.Glu1524Val) c.3950A>T (p.Glu1317Val) c.4670A>T (p.Glu1557Val) c.5168A>T (p.Glu1723Val) c.2765A>T (p.Glu922Val) | |
2 | g.237367016T>C | CA351188223 | COL6A3 | c.4553A>G (p.Glu1518Gly) c.5171A>G (p.Glu1724Gly) c.3350A>G (p.Glu1117Gly) c.4571A>G (p.Glu1524Gly) c.3950A>G (p.Glu1317Gly) c.4670A>G (p.Glu1557Gly) c.5168A>G (p.Glu1723Gly) c.2765A>G (p.Glu922Gly) | |
2 | g.237367016T>G | CA351188227 | COL6A3 | c.4553A>C (p.Glu1518Ala) c.5171A>C (p.Glu1724Ala) c.3350A>C (p.Glu1117Ala) c.4571A>C (p.Glu1524Ala) c.3950A>C (p.Glu1317Ala) c.4670A>C (p.Glu1557Ala) c.5168A>C (p.Glu1723Ala) c.2765A>C (p.Glu922Ala) | |
2 | g.237367017C>A | CA351188236 | COL6A3 | c.4552G>T (p.Glu1518Ter) c.5170G>T (p.Glu1724Ter) c.3349G>T (p.Glu1117Ter) c.4570G>T (p.Glu1524Ter) c.3949G>T (p.Glu1317Ter) c.4669G>T (p.Glu1557Ter) c.5167G>T (p.Glu1723Ter) c.2764G>T (p.Glu922Ter) | |
2 | g.237367017C= | CA1337621004 | COL6A3 | c.4552G= (p.Glu1518=) c.5170G= (p.Glu1724=) c.3349G= (p.Glu1117=) c.4570G= (p.Glu1524=) c.3949G= (p.Glu1317=) c.4669G= (p.Glu1557=) c.5167G= (p.Glu1723=) c.2764G= (p.Glu922=) | |
2 | g.237367017C>G | CA351188231 | COL6A3 | c.4552G>C (p.Glu1518Gln) c.5170G>C (p.Glu1724Gln) c.3349G>C (p.Glu1117Gln) c.4570G>C (p.Glu1524Gln) c.3949G>C (p.Glu1317Gln) c.4669G>C (p.Glu1557Gln) c.5167G>C (p.Glu1723Gln) c.2764G>C (p.Glu922Gln) | |
2 | g.237367017C>T | CA222617 | COL6A3 | c.4552G>A (p.Glu1518Lys) c.5170G>A (p.Glu1724Lys) c.3349G>A (p.Glu1117Lys) c.4570G>A (p.Glu1524Lys) c.3949G>A (p.Glu1317Lys) c.4669G>A (p.Glu1557Lys) c.5167G>A (p.Glu1723Lys) c.2764G>A (p.Glu922Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.237367018A>C | CA431710792 | COL6A3 | c.4551T>G (p.Leu1517=) c.5169T>G (p.Leu1723=) c.3348T>G (p.Leu1116=) c.4569T>G (p.Leu1523=) c.3948T>G (p.Leu1316=) c.4668T>G (p.Leu1556=) c.5166T>G (p.Leu1722=) c.2763T>G (p.Leu921=) | |
2 | g.237367018A>G | CA431710793 | COL6A3 | c.4551T>C (p.Leu1517=) c.5169T>C (p.Leu1723=) c.3348T>C (p.Leu1116=) c.4569T>C (p.Leu1523=) c.3948T>C (p.Leu1316=) c.4668T>C (p.Leu1556=) c.5166T>C (p.Leu1722=) c.2763T>C (p.Leu921=) | |
2 | g.237367018A>T | CA431710794 | COL6A3 | c.4551T>A (p.Leu1517=) c.5169T>A (p.Leu1723=) c.3348T>A (p.Leu1116=) c.4569T>A (p.Leu1523=) c.3948T>A (p.Leu1316=) c.4668T>A (p.Leu1556=) c.5166T>A (p.Leu1722=) c.2763T>A (p.Leu921=) | |
2 | g.237367019A>C | CA351188239 | COL6A3 | c.4550T>G (p.Leu1517Arg) c.5168T>G (p.Leu1723Arg) c.3347T>G (p.Leu1116Arg) c.4568T>G (p.Leu1523Arg) c.3947T>G (p.Leu1316Arg) c.4667T>G (p.Leu1556Arg) c.5165T>G (p.Leu1722Arg) c.2762T>G (p.Leu921Arg) | ClinVar |
2 | g.237367019A>G | CA351188242 | COL6A3 | c.4550T>C (p.Leu1517Pro) c.5168T>C (p.Leu1723Pro) c.3347T>C (p.Leu1116Pro) c.4568T>C (p.Leu1523Pro) c.3947T>C (p.Leu1316Pro) c.4667T>C (p.Leu1556Pro) c.5165T>C (p.Leu1722Pro) c.2762T>C (p.Leu921Pro) | |
2 | g.237367019A>T | CA351188246 | COL6A3 | c.4550T>A (p.Leu1517His) c.5168T>A (p.Leu1723His) c.3347T>A (p.Leu1116His) c.4568T>A (p.Leu1523His) c.3947T>A (p.Leu1316His) c.4667T>A (p.Leu1556His) c.5165T>A (p.Leu1722His) c.2762T>A (p.Leu921His) |