Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237381040T>A | CA351216916 | COL6A3 | c.1154A>T (p.Glu385Val) c.1772A>T (p.Glu591Val) c.551A>T (p.Glu184Val) c.92-3696A>T (n.92-3696A>T) | |
2 | g.237381040T>C | CA351216912 | COL6A3 | c.1154A>G (p.Glu385Gly) c.1772A>G (p.Glu591Gly) c.551A>G (p.Glu184Gly) c.92-3696A>G (n.92-3696A>G) | |
2 | g.237381040T>G | CA351216907 | COL6A3 | c.1154A>C (p.Glu385Ala) c.1772A>C (p.Glu591Ala) c.551A>C (p.Glu184Ala) c.92-3696A>C (n.92-3696A>C) | |
2 | g.237381041C>A | CA351216932 | COL6A3 | c.1153G>T (p.Glu385Ter) c.1771G>T (p.Glu591Ter) c.550G>T (p.Glu184Ter) c.92-3697G>T (n.92-3697G>T) | |
2 | g.237381041C>G | CA351216933 | COL6A3 | c.1153G>C (p.Glu385Gln) c.1771G>C (p.Glu591Gln) c.550G>C (p.Glu184Gln) c.92-3697G>C (n.92-3697G>C) | |
2 | g.237381041C>T | CA351216935 | COL6A3 | c.1153G>A (p.Glu385Lys) c.1771G>A (p.Glu591Lys) c.550G>A (p.Glu184Lys) c.92-3697G>A (n.92-3697G>A) | COSMIC COSMIC |
2 | g.237381042A= | CA1337627237 | COL6A3 | c.1152T= (p.Ala384=) c.1770T= (p.Ala590=) c.549T= (p.Ala183=) c.92-3698T= (n.92-3698T=) | |
2 | g.237381042A>C | CA431712527 | COL6A3 | c.1152T>G (p.Ala384=) c.1770T>G (p.Ala590=) c.549T>G (p.Ala183=) c.92-3698T>G (n.92-3698T>G) | |
2 | g.237381042A>G | CA2189562 | COL6A3 | c.1152T>C (p.Ala384=) c.1770T>C (p.Ala590=) c.549T>C (p.Ala183=) c.92-3698T>C (n.92-3698T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237381042A>T | CA431712529 | COL6A3 | c.1152T>A (p.Ala384=) c.1770T>A (p.Ala590=) c.549T>A (p.Ala183=) c.92-3698T>A (n.92-3698T>A) | |
2 | g.237381043G>A | CA351216939 | COL6A3 | c.1151C>T (p.Ala384Val) c.1769C>T (p.Ala590Val) c.548C>T (p.Ala183Val) c.92-3699C>T (n.92-3699C>T) | |
2 | g.237381043G>C | CA351216940 | COL6A3 | c.1151C>G (p.Ala384Gly) c.1769C>G (p.Ala590Gly) c.548C>G (p.Ala183Gly) c.92-3699C>G (n.92-3699C>G) | gnomAD v4 |
2 | g.237381043G>T | CA351216942 | COL6A3 | c.1151C>A (p.Ala384Asp) c.1769C>A (p.Ala590Asp) c.548C>A (p.Ala183Asp) c.92-3699C>A (n.92-3699C>A) | |
2 | g.237381044C>A | CA351216945 | COL6A3 | c.1150G>T (p.Ala384Ser) c.1768G>T (p.Ala590Ser) c.547G>T (p.Ala183Ser) c.92-3700G>T (n.92-3700G>T) | |
2 | g.237381044C>G | CA351216946 | COL6A3 | c.1150G>C (p.Ala384Pro) c.1768G>C (p.Ala590Pro) c.547G>C (p.Ala183Pro) c.92-3700G>C (n.92-3700G>C) | |
2 | g.237381044C>T | CA351216947 | COL6A3 | c.1150G>A (p.Ala384Thr) c.1768G>A (p.Ala590Thr) c.547G>A (p.Ala183Thr) c.92-3700G>A (n.92-3700G>A) | |
2 | g.237381045C>A | CA351216949 | COL6A3 | c.1149G>T (p.Gln383His) c.1767G>T (p.Gln589His) c.546G>T (p.Gln182His) c.92-3701G>T (n.92-3701G>T) | |
2 | g.237381045C>G | CA351216954 | COL6A3 | c.1149G>C (p.Gln383His) c.1767G>C (p.Gln589His) c.546G>C (p.Gln182His) c.92-3701G>C (n.92-3701G>C) | |
2 | g.237381045C>T | CA431712532 | COL6A3 | c.1149G>A (p.Gln383=) c.1767G>A (p.Gln589=) c.546G>A (p.Gln182=) c.92-3701G>A (n.92-3701G>A) | gnomAD v4 COSMIC COSMIC |
2 | g.237381046T>A | CA351216972 | COL6A3 | c.1148A>T (p.Gln383Leu) c.1766A>T (p.Gln589Leu) c.545A>T (p.Gln182Leu) c.92-3702A>T (n.92-3702A>T) | |
2 | g.237381046T>C | CA351216961 | COL6A3 | c.1148A>G (p.Gln383Arg) c.1766A>G (p.Gln589Arg) c.545A>G (p.Gln182Arg) c.92-3702A>G (n.92-3702A>G) | |
2 | g.237381046T>G | CA351216970 | COL6A3 | c.1148A>C (p.Gln383Pro) c.1766A>C (p.Gln589Pro) c.545A>C (p.Gln182Pro) c.92-3702A>C (n.92-3702A>C) | |
2 | g.237381047G>A | CA351216977 | COL6A3 | c.1147C>T (p.Gln383Ter) c.1765C>T (p.Gln589Ter) c.544C>T (p.Gln182Ter) c.92-3703C>T (n.92-3703C>T) | |
2 | g.237381047G>C | CA351216983 | COL6A3 | c.1147C>G (p.Gln383Glu) c.1765C>G (p.Gln589Glu) c.544C>G (p.Gln182Glu) c.92-3703C>G (n.92-3703C>G) | |
2 | g.237381047G>T | CA351216981 | COL6A3 | c.1147C>A (p.Gln383Lys) c.1765C>A (p.Gln589Lys) c.544C>A (p.Gln182Lys) c.92-3703C>A (n.92-3703C>A) | |
2 | g.237381048A= | CA1337627238 | COL6A3 | c.1146T= (p.Asp382=) c.1764T= (p.Asp588=) c.543T= (p.Asp181=) c.92-3704T= (n.92-3704T=) | |
2 | g.237381048A>C | CA351216985 | COL6A3 | c.1146T>G (p.Asp382Glu) c.1764T>G (p.Asp588Glu) c.543T>G (p.Asp181Glu) c.92-3704T>G (n.92-3704T>G) | |
2 | g.237381048A>G | CA67830383 | COL6A3 | c.1146T>C (p.Asp382=) c.1764T>C (p.Asp588=) c.543T>C (p.Asp181=) c.92-3704T>C (n.92-3704T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381048A>T | CA351216988 | COL6A3 | c.1146T>A (p.Asp382Glu) c.1764T>A (p.Asp588Glu) c.543T>A (p.Asp181Glu) c.92-3704T>A (n.92-3704T>A) | |
2 | g.237381049T>A | CA351216993 | COL6A3 | c.1145A>T (p.Asp382Val) c.1763A>T (p.Asp588Val) c.542A>T (p.Asp181Val) c.92-3705A>T (n.92-3705A>T) | |
2 | g.237381049T>C | CA351216998 | COL6A3 | c.1145A>G (p.Asp382Gly) c.1763A>G (p.Asp588Gly) c.542A>G (p.Asp181Gly) c.92-3705A>G (n.92-3705A>G) | gnomAD v4 |
2 | g.237381049T>G | CA351217006 | COL6A3 | c.1145A>C (p.Asp382Ala) c.1763A>C (p.Asp588Ala) c.542A>C (p.Asp181Ala) c.92-3705A>C (n.92-3705A>C) | |
2 | g.237381050C>A | CA351217012 | COL6A3 | c.1144G>T (p.Asp382Tyr) c.1762G>T (p.Asp588Tyr) c.541G>T (p.Asp181Tyr) c.92-3706G>T (n.92-3706G>T) | gnomAD v4 |
2 | g.237381050C= | CA1337627239 | COL6A3 | c.1144G= (p.Asp382=) c.1762G= (p.Asp588=) c.541G= (p.Asp181=) c.92-3706G= (n.92-3706G=) | |
2 | g.237381050C>G | CA351217020 | COL6A3 | c.1144G>C (p.Asp382His) c.1762G>C (p.Asp588His) c.541G>C (p.Asp181His) c.92-3706G>C (n.92-3706G>C) | gnomAD v4 |
2 | g.237381050C>T | CA10605485 | COL6A3 | c.1144G>A (p.Asp382Asn) c.1762G>A (p.Asp588Asn) c.541G>A (p.Asp181Asn) c.92-3706G>A (n.92-3706G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381051G>A | CA246080 | COL6A3 | c.1143C>T (p.Ala381=) c.1761C>T (p.Ala587=) c.540C>T (p.Ala180=) c.92-3707C>T (n.92-3707C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381051G>C | CA431712537 | COL6A3 | c.1143C>G (p.Ala381=) c.1761C>G (p.Ala587=) c.540C>G (p.Ala180=) c.92-3707C>G (n.92-3707C>G) | |
2 | g.237381051G= | CA1337627240 | COL6A3 | c.1143C= (p.Ala381=) c.1761C= (p.Ala587=) c.540C= (p.Ala180=) c.92-3707C= (n.92-3707C=) | |
2 | g.237381051G>T | CA431712536 | COL6A3 | c.1143C>A (p.Ala381=) c.1761C>A (p.Ala587=) c.540C>A (p.Ala180=) c.92-3707C>A (n.92-3707C>A) | gnomAD v4 |
2 | g.237381052G>A | CA351217028 | COL6A3 | c.1142C>T (p.Ala381Val) c.1760C>T (p.Ala587Val) c.539C>T (p.Ala180Val) c.92-3708C>T (n.92-3708C>T) | |
2 | g.237381052G>C | CA351217032 | COL6A3 | c.1142C>G (p.Ala381Gly) c.1760C>G (p.Ala587Gly) c.539C>G (p.Ala180Gly) c.92-3708C>G (n.92-3708C>G) | gnomAD v4 |
2 | g.237381052G>T | CA351217041 | COL6A3 | c.1142C>A (p.Ala381Asp) c.1760C>A (p.Ala587Asp) c.539C>A (p.Ala180Asp) c.92-3708C>A (n.92-3708C>A) | |
2 | g.237381053C>A | CA351217044 | COL6A3 | c.1141G>T (p.Ala381Ser) c.1759G>T (p.Ala587Ser) c.538G>T (p.Ala180Ser) c.92-3709G>T (n.92-3709G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381053C= | CA1337627241 | COL6A3 | c.1141G= (p.Ala381=) c.1759G= (p.Ala587=) c.538G= (p.Ala180=) c.92-3709G= (n.92-3709G=) | |
2 | g.237381053C>G | CA351217042 | COL6A3 | c.1141G>C (p.Ala381Pro) c.1759G>C (p.Ala587Pro) c.538G>C (p.Ala180Pro) c.92-3709G>C (n.92-3709G>C) | |
2 | g.237381053C>T | CA351217043 | COL6A3 | c.1141G>A (p.Ala381Thr) c.1759G>A (p.Ala587Thr) c.538G>A (p.Ala180Thr) c.92-3709G>A (n.92-3709G>A) | gnomAD v4 |
2 | g.237381054A>C | CA431712540 | COL6A3 | c.1140T>G (p.Gly380=) c.1758T>G (p.Gly586=) c.537T>G (p.Gly179=) c.92-3710T>G (n.92-3710T>G) | |
2 | g.237381054A>G | CA431712538 | COL6A3 | c.1140T>C (p.Gly380=) c.1758T>C (p.Gly586=) c.537T>C (p.Gly179=) c.92-3710T>C (n.92-3710T>C) | gnomAD v4 |
2 | g.237381054A>T | CA431712539 | COL6A3 | c.1140T>A (p.Gly380=) c.1758T>A (p.Gly586=) c.537T>A (p.Gly179=) c.92-3710T>A (n.92-3710T>A) | |
2 | g.237381055C>A | CA351217045 | COL6A3 | c.1139G>T (p.Gly380Val) c.1757G>T (p.Gly586Val) c.536G>T (p.Gly179Val) c.92-3711G>T (n.92-3711G>T) | gnomAD v4 |
2 | g.237381055C>G | CA351217046 | COL6A3 | c.1139G>C (p.Gly380Ala) c.1757G>C (p.Gly586Ala) c.536G>C (p.Gly179Ala) c.92-3711G>C (n.92-3711G>C) | |
2 | g.237381055C>T | CA351217048 | COL6A3 | c.1139G>A (p.Gly380Asp) c.1757G>A (p.Gly586Asp) c.536G>A (p.Gly179Asp) c.92-3711G>A (n.92-3711G>A) | |
2 | g.237381056C>A | CA351217049 | COL6A3 | c.1138G>T (p.Gly380Cys) c.1756G>T (p.Gly586Cys) c.535G>T (p.Gly179Cys) c.92-3712G>T (n.92-3712G>T) | |
2 | g.237381056C>G | CA351217050 | COL6A3 | c.1138G>C (p.Gly380Arg) c.1756G>C (p.Gly586Arg) c.535G>C (p.Gly179Arg) c.92-3712G>C (n.92-3712G>C) | gnomAD v4 |
2 | g.237381056C>T | CA351217051 | COL6A3 | c.1138G>A (p.Gly380Ser) c.1756G>A (p.Gly586Ser) c.535G>A (p.Gly179Ser) c.92-3712G>A (n.92-3712G>A) | |
2 | g.237381057C>A | CA351217053 | COL6A3 | c.1137G>T (p.Lys379Asn) c.1755G>T (p.Lys585Asn) c.534G>T (p.Lys178Asn) c.92-3713G>T (n.92-3713G>T) | ClinVar |
2 | g.237381057C>G | CA351217055 | COL6A3 | c.1137G>C (p.Lys379Asn) c.1755G>C (p.Lys585Asn) c.534G>C (p.Lys178Asn) c.92-3713G>C (n.92-3713G>C) | gnomAD v4 |
2 | g.237381057C>T | CA431712543 | COL6A3 | c.1137G>A (p.Lys379=) c.1755G>A (p.Lys585=) c.534G>A (p.Lys178=) c.92-3713G>A (n.92-3713G>A) | |
2 | g.237381058T>A | CA351217060 | COL6A3 | c.1136A>T (p.Lys379Met) c.1754A>T (p.Lys585Met) c.533A>T (p.Lys178Met) c.92-3714A>T (n.92-3714A>T) | ClinVar dbSNP |
2 | g.237381058T>C | CA351217062 | COL6A3 | c.1136A>G (p.Lys379Arg) c.1754A>G (p.Lys585Arg) c.533A>G (p.Lys178Arg) c.92-3714A>G (n.92-3714A>G) | |
2 | g.237381058T>G | CA351217063 | COL6A3 | c.1136A>C (p.Lys379Thr) c.1754A>C (p.Lys585Thr) c.533A>C (p.Lys178Thr) c.92-3714A>C (n.92-3714A>C) | |
2 | g.237381058T= | CA1337627242 | COL6A3 | c.1136A= (p.Lys379=) c.1754A= (p.Lys585=) c.533A= (p.Lys178=) c.92-3714A= (n.92-3714A=) | |
2 | g.237381059T>A | CA351217067 | COL6A3 | c.1135A>T (p.Lys379Ter) c.1753A>T (p.Lys585Ter) c.532A>T (p.Lys178Ter) c.92-3715A>T (n.92-3715A>T) | |
2 | g.237381059T>C | CA351217066 | COL6A3 | c.1135A>G (p.Lys379Glu) c.1753A>G (p.Lys585Glu) c.532A>G (p.Lys178Glu) c.92-3715A>G (n.92-3715A>G) | dbSNP gnomAD v4 |
2 | g.237381059T>G | CA351217064 | COL6A3 | c.1135A>C (p.Lys379Gln) c.1753A>C (p.Lys585Gln) c.532A>C (p.Lys178Gln) c.92-3715A>C (n.92-3715A>C) | |
2 | g.237381059T= | CA1337627243 | COL6A3 | c.1135A= (p.Lys379=) c.1753A= (p.Lys585=) c.532A= (p.Lys178=) c.92-3715A= (n.92-3715A=) | |
2 | g.237381060G>A | CA431712547 | COL6A3 | c.1134C>T (p.Asn378=) c.1752C>T (p.Asn584=) c.531C>T (p.Asn177=) c.92-3716C>T (n.92-3716C>T) | |
2 | g.237381060G>C | CA351217069 | COL6A3 | c.1134C>G (p.Asn378Lys) c.1752C>G (p.Asn584Lys) c.531C>G (p.Asn177Lys) c.92-3716C>G (n.92-3716C>G) | |
2 | g.237381060G>T | CA351217068 | COL6A3 | c.1134C>A (p.Asn378Lys) c.1752C>A (p.Asn584Lys) c.531C>A (p.Asn177Lys) c.92-3716C>A (n.92-3716C>A) | |
2 | g.237381061T>A | CA351217070 | COL6A3 | c.1133A>T (p.Asn378Ile) c.1751A>T (p.Asn584Ile) c.530A>T (p.Asn177Ile) c.92-3717A>T (n.92-3717A>T) | |
2 | g.237381061T>C | CA2189563 | COL6A3 | c.1133A>G (p.Asn378Ser) c.1751A>G (p.Asn584Ser) c.530A>G (p.Asn177Ser) c.92-3717A>G (n.92-3717A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381061T>G | CA351217072 | COL6A3 | c.1133A>C (p.Asn378Thr) c.1751A>C (p.Asn584Thr) c.530A>C (p.Asn177Thr) c.92-3717A>C (n.92-3717A>C) | |
2 | g.237381061T= | CA1337627244 | COL6A3 | c.1133A= (p.Asn378=) c.1751A= (p.Asn584=) c.530A= (p.Asn177=) c.92-3717A= (n.92-3717A=) | |
2 | g.237381062T>A | CA351217074 | COL6A3 | c.1132A>T (p.Asn378Tyr) c.1750A>T (p.Asn584Tyr) c.529A>T (p.Asn177Tyr) c.92-3718A>T (n.92-3718A>T) | |
2 | g.237381062T>C | CA351217077 | COL6A3 | c.1132A>G (p.Asn378Asp) c.1750A>G (p.Asn584Asp) c.529A>G (p.Asn177Asp) c.92-3718A>G (n.92-3718A>G) | |
2 | g.237381062T>G | CA351217078 | COL6A3 | c.1132A>C (p.Asn378His) c.1750A>C (p.Asn584His) c.529A>C (p.Asn177His) c.92-3718A>C (n.92-3718A>C) | |
2 | g.237381063C>A | CA431712548 | COL6A3 | c.1131G>T (p.Gly377=) c.1749G>T (p.Gly583=) c.528G>T (p.Gly176=) c.92-3719G>T (n.92-3719G>T) | |
2 | g.237381063C>G | CA431712549 | COL6A3 | c.1131G>C (p.Gly377=) c.1749G>C (p.Gly583=) c.528G>C (p.Gly176=) c.92-3719G>C (n.92-3719G>C) | |
2 | g.237381063C>T | CA431712550 | COL6A3 | c.1131G>A (p.Gly377=) c.1749G>A (p.Gly583=) c.528G>A (p.Gly176=) c.92-3719G>A (n.92-3719G>A) | |
2 | g.237381064C>A | CA351217079 | COL6A3 | c.1130G>T (p.Gly377Val) c.1748G>T (p.Gly583Val) c.527G>T (p.Gly176Val) c.92-3720G>T (n.92-3720G>T) | |
2 | g.237381064C>G | CA351217082 | COL6A3 | c.1130G>C (p.Gly377Ala) c.1748G>C (p.Gly583Ala) c.527G>C (p.Gly176Ala) c.92-3720G>C (n.92-3720G>C) | |
2 | g.237381064C>T | CA351217080 | COL6A3 | c.1130G>A (p.Gly377Glu) c.1748G>A (p.Gly583Glu) c.527G>A (p.Gly176Glu) c.92-3720G>A (n.92-3720G>A) | |
2 | g.237381065C>A | CA351217084 | COL6A3 | c.1129G>T (p.Gly377Trp) c.1747G>T (p.Gly583Trp) c.526G>T (p.Gly176Trp) c.92-3721G>T (n.92-3721G>T) | |
2 | g.237381065C>G | CA351217086 | COL6A3 | c.1129G>C (p.Gly377Arg) c.1747G>C (p.Gly583Arg) c.526G>C (p.Gly176Arg) c.92-3721G>C (n.92-3721G>C) | |
2 | g.237381065C>T | CA351217088 | COL6A3 | c.1129G>A (p.Gly377Arg) c.1747G>A (p.Gly583Arg) c.526G>A (p.Gly176Arg) c.92-3721G>A (n.92-3721G>A) | |
2 | g.237381066A>C | CA351217091 | COL6A3 | c.1128T>G (p.Ile376Met) c.1746T>G (p.Ile582Met) c.525T>G (p.Ile175Met) c.92-3722T>G (n.92-3722T>G) | |
2 | g.237381066A>G | CA431712551 | COL6A3 | c.1128T>C (p.Ile376=) c.1746T>C (p.Ile582=) c.525T>C (p.Ile175=) c.92-3722T>C (n.92-3722T>C) | dbSNP |
2 | g.237381066A>T | CA431712552 | COL6A3 | c.1128T>A (p.Ile376=) c.1746T>A (p.Ile582=) c.525T>A (p.Ile175=) c.92-3722T>A (n.92-3722T>A) | gnomAD v4 |
2 | g.237381067A= | CA1337627245 | COL6A3 | c.1127T= (p.Ile376=) c.1745T= (p.Ile582=) c.524T= (p.Ile175=) c.92-3723T= (n.92-3723T=) | |
2 | g.237381067A>C | CA2189564 | COL6A3 | c.1127T>G (p.Ile376Ser) c.1745T>G (p.Ile582Ser) c.524T>G (p.Ile175Ser) c.92-3723T>G (n.92-3723T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381067A>G | CA351217098 | COL6A3 | c.1127T>C (p.Ile376Thr) c.1745T>C (p.Ile582Thr) c.524T>C (p.Ile175Thr) c.92-3723T>C (n.92-3723T>C) | |
2 | g.237381067A>T | CA351217096 | COL6A3 | c.1127T>A (p.Ile376Asn) c.1745T>A (p.Ile582Asn) c.524T>A (p.Ile175Asn) c.92-3723T>A (n.92-3723T>A) | |
2 | g.237381068T>A | CA351217101 | COL6A3 | c.1126A>T (p.Ile376Phe) c.1744A>T (p.Ile582Phe) c.523A>T (p.Ile175Phe) c.92-3724A>T (n.92-3724A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381068T>C | CA351217102 | COL6A3 | c.1126A>G (p.Ile376Val) c.1744A>G (p.Ile582Val) c.523A>G (p.Ile175Val) c.92-3724A>G (n.92-3724A>G) | gnomAD v4 |
2 | g.237381068T>G | CA351217104 | COL6A3 | c.1126A>C (p.Ile376Leu) c.1744A>C (p.Ile582Leu) c.523A>C (p.Ile175Leu) c.92-3724A>C (n.92-3724A>C) | |
2 | g.237381068T= | CA1337627246 | COL6A3 | c.1126A= (p.Ile376=) c.1744A= (p.Ile582=) c.523A= (p.Ile175=) c.92-3724A= (n.92-3724A=) | |
2 | g.237381069G>A | CA431712557 | COL6A3 | c.1125C>T (p.Ala375=) c.1743C>T (p.Ala581=) c.522C>T (p.Ala174=) c.92-3725C>T (n.92-3725C>T) | |
2 | g.237381069G>C | CA431712558 | COL6A3 | c.1125C>G (p.Ala375=) c.1743C>G (p.Ala581=) c.522C>G (p.Ala174=) c.92-3725C>G (n.92-3725C>G) | |
2 | g.237381069G>T | CA431712559 | COL6A3 | c.1125C>A (p.Ala375=) c.1743C>A (p.Ala581=) c.522C>A (p.Ala174=) c.92-3725C>A (n.92-3725C>A) | |
2 | g.237381070G>A | CA351217108 | COL6A3 | c.1124C>T (p.Ala375Val) c.1742C>T (p.Ala581Val) c.521C>T (p.Ala174Val) c.92-3726C>T (n.92-3726C>T) | |
2 | g.237381070G>C | CA351217109 | COL6A3 | c.1124C>G (p.Ala375Gly) c.1742C>G (p.Ala581Gly) c.521C>G (p.Ala174Gly) c.92-3726C>G (n.92-3726C>G) | |
2 | g.237381070G>T | CA351217112 | COL6A3 | c.1124C>A (p.Ala375Asp) c.1742C>A (p.Ala581Asp) c.521C>A (p.Ala174Asp) c.92-3726C>A (n.92-3726C>A) | |
2 | g.237381071C>A | CA351217114 | COL6A3 | c.1123G>T (p.Ala375Ser) c.1741G>T (p.Ala581Ser) c.520G>T (p.Ala174Ser) c.92-3727G>T (n.92-3727G>T) | |
2 | g.237381071C>G | CA351217116 | COL6A3 | c.1123G>C (p.Ala375Pro) c.1741G>C (p.Ala581Pro) c.520G>C (p.Ala174Pro) c.92-3727G>C (n.92-3727G>C) | |
2 | g.237381071C>T | CA351217118 | COL6A3 | c.1123G>A (p.Ala375Thr) c.1741G>A (p.Ala581Thr) c.520G>A (p.Ala174Thr) c.92-3727G>A (n.92-3727G>A) | gnomAD v4 |
2 | g.237381072A= | CA1337627247 | COL6A3 | c.1122T= (p.Phe374=) c.1740T= (p.Phe580=) c.519T= (p.Phe173=) c.92-3728T= (n.92-3728T=) | |
2 | g.237381072A>C | CA351217120 | COL6A3 | c.1122T>G (p.Phe374Leu) c.1740T>G (p.Phe580Leu) c.519T>G (p.Phe173Leu) c.92-3728T>G (n.92-3728T>G) | ClinVar dbSNP |
2 | g.237381072A>G | CA431712560 | COL6A3 | c.1122T>C (p.Phe374=) c.1740T>C (p.Phe580=) c.519T>C (p.Phe173=) c.92-3728T>C (n.92-3728T>C) | |
2 | g.237381072A>T | CA351217122 | COL6A3 | c.1122T>A (p.Phe374Leu) c.1740T>A (p.Phe580Leu) c.519T>A (p.Phe173Leu) c.92-3728T>A (n.92-3728T>A) | |
2 | g.237381073A>C | CA351217126 | COL6A3 | c.1121T>G (p.Phe374Cys) c.1739T>G (p.Phe580Cys) c.518T>G (p.Phe173Cys) c.92-3729T>G (n.92-3729T>G) | |
2 | g.237381073A>G | CA351217128 | COL6A3 | c.1121T>C (p.Phe374Ser) c.1739T>C (p.Phe580Ser) c.518T>C (p.Phe173Ser) c.92-3729T>C (n.92-3729T>C) | gnomAD v4 |
2 | g.237381073A>T | CA351217124 | COL6A3 | c.1121T>A (p.Phe374Tyr) c.1739T>A (p.Phe580Tyr) c.518T>A (p.Phe173Tyr) c.92-3729T>A (n.92-3729T>A) | |
2 | g.237381074A>C | CA351217130 | COL6A3 | c.1120T>G (p.Phe374Val) c.1738T>G (p.Phe580Val) c.517T>G (p.Phe173Val) c.92-3730T>G (n.92-3730T>G) | |
2 | g.237381074A>G | CA351217134 | COL6A3 | c.1120T>C (p.Phe374Leu) c.1738T>C (p.Phe580Leu) c.517T>C (p.Phe173Leu) c.92-3730T>C (n.92-3730T>C) | |
2 | g.237381074A>T | CA351217132 | COL6A3 | c.1120T>A (p.Phe374Ile) c.1738T>A (p.Phe580Ile) c.517T>A (p.Phe173Ile) c.92-3730T>A (n.92-3730T>A) | |
2 | g.237381075G>A | CA431712563 | COL6A3 | c.1119C>T (p.Ala373=) c.1737C>T (p.Ala579=) c.516C>T (p.Ala172=) c.92-3731C>T (n.92-3731C>T) | gnomAD v4 |
2 | g.237381075G>C | CA431712565 | COL6A3 | c.1119C>G (p.Ala373=) c.1737C>G (p.Ala579=) c.516C>G (p.Ala172=) c.92-3731C>G (n.92-3731C>G) | |
2 | g.237381075G>T | CA431712564 | COL6A3 | c.1119C>A (p.Ala373=) c.1737C>A (p.Ala579=) c.516C>A (p.Ala172=) c.92-3731C>A (n.92-3731C>A) | |
2 | g.237381076G>A | CA351217136 | COL6A3 | c.1118C>T (p.Ala373Val) c.1736C>T (p.Ala579Val) c.515C>T (p.Ala172Val) c.92-3732C>T (n.92-3732C>T) | |
2 | g.237381076G>C | CA351217138 | COL6A3 | c.1118C>G (p.Ala373Gly) c.1736C>G (p.Ala579Gly) c.515C>G (p.Ala172Gly) c.92-3732C>G (n.92-3732C>G) | |
2 | g.237381076G>T | CA351217137 | COL6A3 | c.1118C>A (p.Ala373Asp) c.1736C>A (p.Ala579Asp) c.515C>A (p.Ala172Asp) c.92-3732C>A (n.92-3732C>A) | |
2 | g.237381077C>A | CA351217139 | COL6A3 | c.1117G>T (p.Ala373Ser) c.1735G>T (p.Ala579Ser) c.514G>T (p.Ala172Ser) c.92-3733G>T (n.92-3733G>T) | |
2 | g.237381077C= | CA1337627248 | COL6A3 | c.1117G= (p.Ala373=) c.1735G= (p.Ala579=) c.514G= (p.Ala172=) c.92-3733G= (n.92-3733G=) | |
2 | g.237381077C>G | CA351217140 | COL6A3 | c.1117G>C (p.Ala373Pro) c.1735G>C (p.Ala579Pro) c.514G>C (p.Ala172Pro) c.92-3733G>C (n.92-3733G>C) | |
2 | g.237381077C>T | CA351217141 | COL6A3 | c.1117G>A (p.Ala373Thr) c.1735G>A (p.Ala579Thr) c.514G>A (p.Ala172Thr) c.92-3733G>A (n.92-3733G>A) | ClinVar dbSNP |
2 | g.237381078C>A | CA351217142 | COL6A3 | c.1116G>T (p.Met372Ile) c.1734G>T (p.Met578Ile) c.513G>T (p.Met171Ile) c.92-3734G>T (n.92-3734G>T) | |
2 | g.237381078C>G | CA351217143 | COL6A3 | c.1116G>C (p.Met372Ile) c.1734G>C (p.Met578Ile) c.513G>C (p.Met171Ile) c.92-3734G>C (n.92-3734G>C) | |
2 | g.237381078C>T | CA351217144 | COL6A3 | c.1116G>A (p.Met372Ile) c.1734G>A (p.Met578Ile) c.513G>A (p.Met171Ile) c.92-3734G>A (n.92-3734G>A) | |
2 | g.237381079A>C | CA351217145 | COL6A3 | c.1115T>G (p.Met372Arg) c.1733T>G (p.Met578Arg) c.512T>G (p.Met171Arg) c.92-3735T>G (n.92-3735T>G) | gnomAD v4 |
2 | g.237381079A>G | CA351217146 | COL6A3 | c.1115T>C (p.Met372Thr) c.1733T>C (p.Met578Thr) c.512T>C (p.Met171Thr) c.92-3735T>C (n.92-3735T>C) | |
2 | g.237381079A>T | CA351217147 | COL6A3 | c.1115T>A (p.Met372Lys) c.1733T>A (p.Met578Lys) c.512T>A (p.Met171Lys) c.92-3735T>A (n.92-3735T>A) | |
2 | g.237381080T>A | CA351217148 | COL6A3 | c.1114A>T (p.Met372Leu) c.1732A>T (p.Met578Leu) c.511A>T (p.Met171Leu) c.92-3736A>T (n.92-3736A>T) | |
2 | g.237381080T>C | CA351217149 | COL6A3 | c.1114A>G (p.Met372Val) c.1732A>G (p.Met578Val) c.511A>G (p.Met171Val) c.92-3736A>G (n.92-3736A>G) | dbSNP gnomAD v4 |
2 | g.237381080T>G | CA351217150 | COL6A3 | c.1114A>C (p.Met372Leu) c.1732A>C (p.Met578Leu) c.511A>C (p.Met171Leu) c.92-3736A>C (n.92-3736A>C) | |
2 | g.237381080T= | CA1337627249 | COL6A3 | c.1114A= (p.Met372=) c.1732A= (p.Met578=) c.511A= (p.Met171=) c.92-3736A= (n.92-3736A=) | |
2 | g.237381081T>A | CA431712568 | COL6A3 | c.1113A>T (p.Ile371=) c.1731A>T (p.Ile577=) c.510A>T (p.Ile170=) c.92-3737A>T (n.92-3737A>T) | |
2 | g.237381081T>C | CA351217151 | COL6A3 | c.1113A>G (p.Ile371Met) c.1731A>G (p.Ile577Met) c.510A>G (p.Ile170Met) c.92-3737A>G (n.92-3737A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381081T>G | CA431712570 | COL6A3 | c.1113A>C (p.Ile371=) c.1731A>C (p.Ile577=) c.510A>C (p.Ile170=) c.92-3737A>C (n.92-3737A>C) | |
2 | g.237381081T= | CA1337627250 | COL6A3 | c.1113A= (p.Ile371=) c.1731A= (p.Ile577=) c.510A= (p.Ile170=) c.92-3737A= (n.92-3737A=) | |
2 | g.237381082A= | CA1337627251 | COL6A3 | c.1112T= (p.Ile371=) c.1730T= (p.Ile577=) c.509T= (p.Ile170=) c.92-3738T= (n.92-3738T=) | |
2 | g.237381082A>C | CA351217152 | COL6A3 | c.1112T>G (p.Ile371Arg) c.1730T>G (p.Ile577Arg) c.509T>G (p.Ile170Arg) c.92-3738T>G (n.92-3738T>G) | |
2 | g.237381082A>G | CA351217153 | COL6A3 | c.1112T>C (p.Ile371Thr) c.1730T>C (p.Ile577Thr) c.509T>C (p.Ile170Thr) c.92-3738T>C (n.92-3738T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381082A>T | CA351217154 | COL6A3 | c.1112T>A (p.Ile371Lys) c.1730T>A (p.Ile577Lys) c.509T>A (p.Ile170Lys) c.92-3738T>A (n.92-3738T>A) | |
2 | g.237381083T>A | CA351217155 | COL6A3 | c.1111A>T (p.Ile371Leu) c.1729A>T (p.Ile577Leu) c.508A>T (p.Ile170Leu) c.92-3739A>T (n.92-3739A>T) | |
2 | g.237381083T>C | CA351217156 | COL6A3 | c.1111A>G (p.Ile371Val) c.1729A>G (p.Ile577Val) c.508A>G (p.Ile170Val) c.92-3739A>G (n.92-3739A>G) | ClinVar |
2 | g.237381083T>G | CA351217157 | COL6A3 | c.1111A>C (p.Ile371Leu) c.1729A>C (p.Ile577Leu) c.508A>C (p.Ile170Leu) c.92-3739A>C (n.92-3739A>C) | |
2 | g.237381084G>A | CA431712571 | COL6A3 | c.1110C>T (p.Ser370=) c.1728C>T (p.Ser576=) c.507C>T (p.Ser169=) c.92-3740C>T (n.92-3740C>T) | gnomAD v4 |
2 | g.237381084G>C | CA351217158 | COL6A3 | c.1110C>G (p.Ser370Arg) c.1728C>G (p.Ser576Arg) c.507C>G (p.Ser169Arg) c.92-3740C>G (n.92-3740C>G) | |
2 | g.237381084G= | CA1337627252 | COL6A3 | c.1110C= (p.Ser370=) c.1728C= (p.Ser576=) c.507C= (p.Ser169=) c.92-3740C= (n.92-3740C=) | |
2 | g.237381084G>T | CA2189565 | COL6A3 | c.1110C>A (p.Ser370Arg) c.1728C>A (p.Ser576Arg) c.507C>A (p.Ser169Arg) c.92-3740C>A (n.92-3740C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237381085C>A | CA351217159 | COL6A3 | c.1109G>T (p.Ser370Ile) c.1727G>T (p.Ser576Ile) c.506G>T (p.Ser169Ile) c.92-3741G>T (n.92-3741G>T) | |
2 | g.237381085C= | CA1337627253 | COL6A3 | c.1109G= (p.Ser370=) c.1727G= (p.Ser576=) c.506G= (p.Ser169=) c.92-3741G= (n.92-3741G=) | |
2 | g.237381085C>G | CA351217160 | COL6A3 | c.1109G>C (p.Ser370Thr) c.1727G>C (p.Ser576Thr) c.506G>C (p.Ser169Thr) c.92-3741G>C (n.92-3741G>C) | |
2 | g.237381085C>T | CA351217161 | COL6A3 | c.1109G>A (p.Ser370Asn) c.1727G>A (p.Ser576Asn) c.506G>A (p.Ser169Asn) c.92-3741G>A (n.92-3741G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381086T>A | CA351217164 | COL6A3 | c.1108A>T (p.Ser370Cys) c.1726A>T (p.Ser576Cys) c.505A>T (p.Ser169Cys) c.92-3742A>T (n.92-3742A>T) | |
2 | g.237381086T>C | CA351217163 | COL6A3 | c.1108A>G (p.Ser370Gly) c.1726A>G (p.Ser576Gly) c.505A>G (p.Ser169Gly) c.92-3742A>G (n.92-3742A>G) | |
2 | g.237381086T>G | CA351217162 | COL6A3 | c.1108A>C (p.Ser370Arg) c.1726A>C (p.Ser576Arg) c.505A>C (p.Ser169Arg) c.92-3742A>C (n.92-3742A>C) | |
2 | g.237381087G>A | CA431712575 | COL6A3 | c.1107C>T (p.Ser369=) c.1725C>T (p.Ser575=) c.504C>T (p.Ser168=) c.92-3743C>T (n.92-3743C>T) | |
2 | g.237381087G>C | CA351217165 | COL6A3 | c.1107C>G (p.Ser369Arg) c.1725C>G (p.Ser575Arg) c.504C>G (p.Ser168Arg) c.92-3743C>G (n.92-3743C>G) | |
2 | g.237381087G>T | CA351217166 | COL6A3 | c.1107C>A (p.Ser369Arg) c.1725C>A (p.Ser575Arg) c.504C>A (p.Ser168Arg) c.92-3743C>A (n.92-3743C>A) | |
2 | g.237381088C>A | CA351217167 | COL6A3 | c.1106G>T (p.Ser369Ile) c.1724G>T (p.Ser575Ile) c.503G>T (p.Ser168Ile) c.92-3744G>T (n.92-3744G>T) | |
2 | g.237381088C>G | CA351217168 | COL6A3 | c.1106G>C (p.Ser369Thr) c.1724G>C (p.Ser575Thr) c.503G>C (p.Ser168Thr) c.92-3744G>C (n.92-3744G>C) | |
2 | g.237381088C>T | CA351217169 | COL6A3 | c.1106G>A (p.Ser369Asn) c.1724G>A (p.Ser575Asn) c.503G>A (p.Ser168Asn) c.92-3744G>A (n.92-3744G>A) | |
2 | g.237381089T>A | CA351217170 | COL6A3 | c.1105A>T (p.Ser369Cys) c.1723A>T (p.Ser575Cys) c.502A>T (p.Ser168Cys) c.92-3745A>T (n.92-3745A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381089T>C | CA351217171 | COL6A3 | c.1105A>G (p.Ser369Gly) c.1723A>G (p.Ser575Gly) c.502A>G (p.Ser168Gly) c.92-3745A>G (n.92-3745A>G) | gnomAD v4 |
2 | g.237381089T>G | CA351217172 | COL6A3 | c.1105A>C (p.Ser369Arg) c.1723A>C (p.Ser575Arg) c.502A>C (p.Ser168Arg) c.92-3745A>C (n.92-3745A>C) | |
2 | g.237381089T= | CA1337627254 | COL6A3 | c.1105A= (p.Ser369=) c.1723A= (p.Ser575=) c.502A= (p.Ser168=) c.92-3745A= (n.92-3745A=) | |
2 | g.237381090T>A | CA351217173 | COL6A3 | c.1104A>T (p.Arg368Ser) c.1722A>T (p.Arg574Ser) c.501A>T (p.Arg167Ser) c.92-3746A>T (n.92-3746A>T) | |
2 | g.237381090T>C | CA431712577 | COL6A3 | c.1104A>G (p.Arg368=) c.1722A>G (p.Arg574=) c.501A>G (p.Arg167=) c.92-3746A>G (n.92-3746A>G) | |
2 | g.237381090T>G | CA351217174 | COL6A3 | c.1104A>C (p.Arg368Ser) c.1722A>C (p.Arg574Ser) c.501A>C (p.Arg167Ser) c.92-3746A>C (n.92-3746A>C) | |
2 | g.237381091C>A | CA351217175 | COL6A3 | c.1103G>T (p.Arg368Ile) c.1721G>T (p.Arg574Ile) c.500G>T (p.Arg167Ile) c.92-3747G>T (n.92-3747G>T) | COSMIC COSMIC |
2 | g.237381091C>G | CA351217176 | COL6A3 | c.1103G>C (p.Arg368Thr) c.1721G>C (p.Arg574Thr) c.500G>C (p.Arg167Thr) c.92-3747G>C (n.92-3747G>C) | |
2 | g.237381091C>T | CA351217177 | COL6A3 | c.1103G>A (p.Arg368Lys) c.1721G>A (p.Arg574Lys) c.500G>A (p.Arg167Lys) c.92-3747G>A (n.92-3747G>A) | |
2 | g.237381092T>A | CA351217178 | COL6A3 | c.1102A>T (p.Arg368Ter) c.1720A>T (p.Arg574Ter) c.499A>T (p.Arg167Ter) c.92-3748A>T (n.92-3748A>T) | |
2 | g.237381092T>C | CA351217179 | COL6A3 | c.1102A>G (p.Arg368Gly) c.1720A>G (p.Arg574Gly) c.499A>G (p.Arg167Gly) c.92-3748A>G (n.92-3748A>G) | |
2 | g.237381092T>G | CA431712579 | COL6A3 | c.1102A>C (p.Arg368=) c.1720A>C (p.Arg574=) c.499A>C (p.Arg167=) c.92-3748A>C (n.92-3748A>C) | |
2 | g.237381093C>A | CA351217180 | COL6A3 | c.1101G>T (p.Lys367Asn) c.1719G>T (p.Lys573Asn) c.498G>T (p.Lys166Asn) c.92-3749G>T (n.92-3749G>T) | |
2 | g.237381093C>G | CA351217181 | COL6A3 | c.1101G>C (p.Lys367Asn) c.1719G>C (p.Lys573Asn) c.498G>C (p.Lys166Asn) c.92-3749G>C (n.92-3749G>C) | dbSNP |
2 | g.237381093C>T | CA431712580 | COL6A3 | c.1101G>A (p.Lys367=) c.1719G>A (p.Lys573=) c.498G>A (p.Lys166=) c.92-3749G>A (n.92-3749G>A) | |
2 | g.237381094T>A | CA351217182 | COL6A3 | c.1100A>T (p.Lys367Met) c.1718A>T (p.Lys573Met) c.497A>T (p.Lys166Met) c.92-3750A>T (n.92-3750A>T) | |
2 | g.237381094T>C | CA351217183 | COL6A3 | c.1100A>G (p.Lys367Arg) c.1718A>G (p.Lys573Arg) c.497A>G (p.Lys166Arg) c.92-3750A>G (n.92-3750A>G) | |
2 | g.237381094T>G | CA351217184 | COL6A3 | c.1100A>C (p.Lys367Thr) c.1718A>C (p.Lys573Thr) c.497A>C (p.Lys166Thr) c.92-3750A>C (n.92-3750A>C) | |
2 | g.237381095T>A | CA351217185 | COL6A3 | c.1099A>T (p.Lys367Ter) c.1717A>T (p.Lys573Ter) c.496A>T (p.Lys166Ter) c.92-3751A>T (n.92-3751A>T) | |
2 | g.237381095T>C | CA351217186 | COL6A3 | c.1099A>G (p.Lys367Glu) c.1717A>G (p.Lys573Glu) c.496A>G (p.Lys166Glu) c.92-3751A>G (n.92-3751A>G) | |
2 | g.237381095T>G | CA351217187 | COL6A3 | c.1099A>C (p.Lys367Gln) c.1717A>C (p.Lys573Gln) c.496A>C (p.Lys166Gln) c.92-3751A>C (n.92-3751A>C) | |
2 | g.237381096C>A | CA431712584 | COL6A3 | c.1098G>T (p.Leu366=) c.1716G>T (p.Leu572=) c.495G>T (p.Leu165=) c.92-3752G>T (n.92-3752G>T) | |
2 | g.237381096C= | CA1337627255 | COL6A3 | c.1098G= (p.Leu366=) c.1716G= (p.Leu572=) c.495G= (p.Leu165=) c.92-3752G= (n.92-3752G=) | |
2 | g.237381096C>G | CA431712585 | COL6A3 | c.1098G>C (p.Leu366=) c.1716G>C (p.Leu572=) c.495G>C (p.Leu165=) c.92-3752G>C (n.92-3752G>C) | |
2 | g.237381096C>T | CA67830416 | COL6A3 | c.1098G>A (p.Leu366=) c.1716G>A (p.Leu572=) c.495G>A (p.Leu165=) c.92-3752G>A (n.92-3752G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381097A>C | CA351217188 | COL6A3 | c.1097T>G (p.Leu366Arg) c.1715T>G (p.Leu572Arg) c.494T>G (p.Leu165Arg) c.92-3753T>G (n.92-3753T>G) | |
2 | g.237381097A>G | CA351217189 | COL6A3 | c.1097T>C (p.Leu366Pro) c.1715T>C (p.Leu572Pro) c.494T>C (p.Leu165Pro) c.92-3753T>C (n.92-3753T>C) | |
2 | g.237381097A>T | CA351217190 | COL6A3 | c.1097T>A (p.Leu366Gln) c.1715T>A (p.Leu572Gln) c.494T>A (p.Leu165Gln) c.92-3753T>A (n.92-3753T>A) | |
2 | g.237381098G>A | CA2189566 | COL6A3 | c.1096C>T (p.Leu366=) c.1714C>T (p.Leu572=) c.493C>T (p.Leu165=) c.92-3754C>T (n.92-3754C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237381098G>C | CA351217192 | COL6A3 | c.1096C>G (p.Leu366Val) c.1714C>G (p.Leu572Val) c.493C>G (p.Leu165Val) c.92-3754C>G (n.92-3754C>G) | |
2 | g.237381098G= | CA1337627256 | COL6A3 | c.1096C= (p.Leu366=) c.1714C= (p.Leu572=) c.493C= (p.Leu165=) c.92-3754C= (n.92-3754C=) | |
2 | g.237381098G>T | CA351217191 | COL6A3 | c.1096C>A (p.Leu366Met) c.1714C>A (p.Leu572Met) c.493C>A (p.Leu165Met) c.92-3754C>A (n.92-3754C>A) | |
2 | g.237381099C>A | CA351217193 | COL6A3 | c.1095G>T (p.Glu365Asp) c.1713G>T (p.Glu571Asp) c.492G>T (p.Glu164Asp) c.92-3755G>T (n.92-3755G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381099C= | CA1337627257 | COL6A3 | c.1095G= (p.Glu365=) c.1713G= (p.Glu571=) c.492G= (p.Glu164=) c.92-3755G= (n.92-3755G=) | |
2 | g.237381099C>G | CA351217194 | COL6A3 | c.1095G>C (p.Glu365Asp) c.1713G>C (p.Glu571Asp) c.492G>C (p.Glu164Asp) c.92-3755G>C (n.92-3755G>C) | |
2 | g.237381099C>T | CA431712587 | COL6A3 | c.1095G>A (p.Glu365=) c.1713G>A (p.Glu571=) c.492G>A (p.Glu164=) c.92-3755G>A (n.92-3755G>A) | |
2 | g.237381100T>A | CA351217195 | COL6A3 | c.1094A>T (p.Glu365Val) c.1712A>T (p.Glu571Val) c.491A>T (p.Glu164Val) c.92-3756A>T (n.92-3756A>T) | |
2 | g.237381100T>C | CA351217196 | COL6A3 | c.1094A>G (p.Glu365Gly) c.1712A>G (p.Glu571Gly) c.491A>G (p.Glu164Gly) c.92-3756A>G (n.92-3756A>G) | |
2 | g.237381100T>G | CA351217197 | COL6A3 | c.1094A>C (p.Glu365Ala) c.1712A>C (p.Glu571Ala) c.491A>C (p.Glu164Ala) c.92-3756A>C (n.92-3756A>C) | |
2 | g.237381101C>A | CA351217198 | COL6A3 | c.1093G>T (p.Glu365Ter) c.1711G>T (p.Glu571Ter) c.490G>T (p.Glu164Ter) c.92-3757G>T (n.92-3757G>T) | |
2 | g.237381101C= | CA1337627258 | COL6A3 | c.1093G= (p.Glu365=) c.1711G= (p.Glu571=) c.490G= (p.Glu164=) c.92-3757G= (n.92-3757G=) | |
2 | g.237381101C>G | CA351217199 | COL6A3 | c.1093G>C (p.Glu365Gln) c.1711G>C (p.Glu571Gln) c.490G>C (p.Glu164Gln) c.92-3757G>C (n.92-3757G>C) | |
2 | g.237381101C>T | CA351217200 | COL6A3 | c.1093G>A (p.Glu365Lys) c.1711G>A (p.Glu571Lys) c.490G>A (p.Glu164Lys) c.92-3757G>A (n.92-3757G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381102C>A | CA351217201 | COL6A3 | c.1092G>T (p.Gln364His) c.1710G>T (p.Gln570His) c.489G>T (p.Gln163His) c.92-3758G>T (n.92-3758G>T) | |
2 | g.237381102C>G | CA351217202 | COL6A3 | c.1092G>C (p.Gln364His) c.1710G>C (p.Gln570His) c.489G>C (p.Gln163His) c.92-3758G>C (n.92-3758G>C) | |
2 | g.237381102C>T | CA431712588 | COL6A3 | c.1092G>A (p.Gln364=) c.1710G>A (p.Gln570=) c.489G>A (p.Gln163=) c.92-3758G>A (n.92-3758G>A) | |
2 | g.237381103T>A | CA351217203 | COL6A3 | c.1091A>T (p.Gln364Leu) c.1709A>T (p.Gln570Leu) c.488A>T (p.Gln163Leu) c.92-3759A>T (n.92-3759A>T) | |
2 | g.237381103T>C | CA351217204 | COL6A3 | c.1091A>G (p.Gln364Arg) c.1709A>G (p.Gln570Arg) c.488A>G (p.Gln163Arg) c.92-3759A>G (n.92-3759A>G) | |
2 | g.237381103T>G | CA351217205 | COL6A3 | c.1091A>C (p.Gln364Pro) c.1709A>C (p.Gln570Pro) c.488A>C (p.Gln163Pro) c.92-3759A>C (n.92-3759A>C) | |
2 | g.237381104G>A | CA351217208 | COL6A3 | c.1090C>T (p.Gln364Ter) c.1708C>T (p.Gln570Ter) c.487C>T (p.Gln163Ter) c.92-3760C>T (n.92-3760C>T) | |
2 | g.237381104G>C | CA351217207 | COL6A3 | c.1090C>G (p.Gln364Glu) c.1708C>G (p.Gln570Glu) c.487C>G (p.Gln163Glu) c.92-3760C>G (n.92-3760C>G) | |
2 | g.237381104G>T | CA351217206 | COL6A3 | c.1090C>A (p.Gln364Lys) c.1708C>A (p.Gln570Lys) c.487C>A (p.Gln163Lys) c.92-3760C>A (n.92-3760C>A) | gnomAD v4 |
2 | g.237381105G>A | CA431712591 | COL6A3 | c.1089C>T (p.Ala363=) c.1707C>T (p.Ala569=) c.486C>T (p.Ala162=) c.92-3761C>T (n.92-3761C>T) | dbSNP |
2 | g.237381105G>C | CA431712592 | COL6A3 | c.1089C>G (p.Ala363=) c.1707C>G (p.Ala569=) c.486C>G (p.Ala162=) c.92-3761C>G (n.92-3761C>G) | |
2 | g.237381105G= | CA1337627259 | COL6A3 | c.1089C= (p.Ala363=) c.1707C= (p.Ala569=) c.486C= (p.Ala162=) c.92-3761C= (n.92-3761C=) | |
2 | g.237381105G>T | CA431712593 | COL6A3 | c.1089C>A (p.Ala363=) c.1707C>A (p.Ala569=) c.486C>A (p.Ala162=) c.92-3761C>A (n.92-3761C>A) | |
2 | g.237381106G>A | CA351217209 | COL6A3 | c.1088C>T (p.Ala363Val) c.1706C>T (p.Ala569Val) c.485C>T (p.Ala162Val) c.92-3762C>T (n.92-3762C>T) | |
2 | g.237381106G>C | CA351217210 | COL6A3 | c.1088C>G (p.Ala363Gly) c.1706C>G (p.Ala569Gly) c.485C>G (p.Ala162Gly) c.92-3762C>G (n.92-3762C>G) | |
2 | g.237381106G>T | CA351217211 | COL6A3 | c.1088C>A (p.Ala363Asp) c.1706C>A (p.Ala569Asp) c.485C>A (p.Ala162Asp) c.92-3762C>A (n.92-3762C>A) | |
2 | g.237381107C>A | CA351217212 | COL6A3 | c.1087G>T (p.Ala363Ser) c.1705G>T (p.Ala569Ser) c.484G>T (p.Ala162Ser) c.92-3763G>T (n.92-3763G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381107C= | CA1337627260 | COL6A3 | c.1087G= (p.Ala363=) c.1705G= (p.Ala569=) c.484G= (p.Ala162=) c.92-3763G= (n.92-3763G=) | |
2 | g.237381107C>G | CA351217213 | COL6A3 | c.1087G>C (p.Ala363Pro) c.1705G>C (p.Ala569Pro) c.484G>C (p.Ala162Pro) c.92-3763G>C (n.92-3763G>C) | |
2 | g.237381107C>T | CA351217214 | COL6A3 | c.1087G>A (p.Ala363Thr) c.1705G>A (p.Ala569Thr) c.484G>A (p.Ala162Thr) c.92-3763G>A (n.92-3763G>A) | |
2 | g.237381108A= | CA1337627261 | COL6A3 | c.1086T= (p.Pro362=) c.1704T= (p.Pro568=) c.483T= (p.Pro161=) c.92-3764T= (n.92-3764T=) | |
2 | g.237381108A>C | CA431712594 | COL6A3 | c.1086T>G (p.Pro362=) c.1704T>G (p.Pro568=) c.483T>G (p.Pro161=) c.92-3764T>G (n.92-3764T>G) | |
2 | g.237381108A>G | CA431712596 | COL6A3 | c.1086T>C (p.Pro362=) c.1704T>C (p.Pro568=) c.483T>C (p.Pro161=) c.92-3764T>C (n.92-3764T>C) | dbSNP |
2 | g.237381108A>T | CA431712597 | COL6A3 | c.1086T>A (p.Pro362=) c.1704T>A (p.Pro568=) c.483T>A (p.Pro161=) c.92-3764T>A (n.92-3764T>A) | |
2 | g.237381109G>A | CA351217215 | COL6A3 | c.1085C>T (p.Pro362Leu) c.1703C>T (p.Pro568Leu) c.482C>T (p.Pro161Leu) c.92-3765C>T (n.92-3765C>T) | |
2 | g.237381109G>C | CA351217216 | COL6A3 | c.1085C>G (p.Pro362Arg) c.1703C>G (p.Pro568Arg) c.482C>G (p.Pro161Arg) c.92-3765C>G (n.92-3765C>G) | |
2 | g.237381109G>T | CA351217217 | COL6A3 | c.1085C>A (p.Pro362His) c.1703C>A (p.Pro568His) c.482C>A (p.Pro161His) c.92-3765C>A (n.92-3765C>A) | |
2 | g.237381110_237381114del | CA2580066111 | COL6A3 | c.1081_1085del (p.Gln361CysfsTer23) c.1699_1703del (p.Gln567CysfsTer23) c.478_482del (p.Gln160CysfsTer23) c.92-3769_92-3765del (n.92-3769_92-3765del) | ClinVar |
2 | g.237381110G>A | CA351217218 | COL6A3 | c.1084C>T (p.Pro362Ser) c.1702C>T (p.Pro568Ser) c.481C>T (p.Pro161Ser) c.92-3766C>T (n.92-3766C>T) | |
2 | g.237381110G>C | CA351217219 | COL6A3 | c.1084C>G (p.Pro362Ala) c.1702C>G (p.Pro568Ala) c.481C>G (p.Pro161Ala) c.92-3766C>G (n.92-3766C>G) | |
2 | g.237381110G= | CA1337627262 | COL6A3 | c.1084C= (p.Pro362=) c.1702C= (p.Pro568=) c.481C= (p.Pro161=) c.92-3766C= (n.92-3766C=) | |
2 | g.237381110G>T | CA67830444 | COL6A3 | c.1084C>A (p.Pro362Thr) c.1702C>A (p.Pro568Thr) c.481C>A (p.Pro161Thr) c.92-3766C>A (n.92-3766C>A) | dbSNP gnomAD v4 |
2 | g.237381111C>A | CA351217220 | COL6A3 | c.1083G>T (p.Gln361His) c.1701G>T (p.Gln567His) c.480G>T (p.Gln160His) c.92-3767G>T (n.92-3767G>T) | |
2 | g.237381111C>G | CA351217221 | COL6A3 | c.1083G>C (p.Gln361His) c.1701G>C (p.Gln567His) c.480G>C (p.Gln160His) c.92-3767G>C (n.92-3767G>C) | |
2 | g.237381111C>T | CA431712598 | COL6A3 | c.1083G>A (p.Gln361=) c.1701G>A (p.Gln567=) c.480G>A (p.Gln160=) c.92-3767G>A (n.92-3767G>A) | |
2 | g.237381112T>A | CA351217223 | COL6A3 | c.1082A>T (p.Gln361Leu) c.1700A>T (p.Gln567Leu) c.479A>T (p.Gln160Leu) c.92-3768A>T (n.92-3768A>T) | |
2 | g.237381112T>C | CA351217224 | COL6A3 | c.1082A>G (p.Gln361Arg) c.1700A>G (p.Gln567Arg) c.479A>G (p.Gln160Arg) c.92-3768A>G (n.92-3768A>G) | gnomAD v4 |
2 | g.237381112T>G | CA351217222 | COL6A3 | c.1082A>C (p.Gln361Pro) c.1700A>C (p.Gln567Pro) c.479A>C (p.Gln160Pro) c.92-3768A>C (n.92-3768A>C) | |
2 | g.237381113G>A | CA351217225 | COL6A3 | c.1081C>T (p.Gln361Ter) c.1699C>T (p.Gln567Ter) c.478C>T (p.Gln160Ter) c.92-3769C>T (n.92-3769C>T) | ClinVar dbSNP |
2 | g.237381113G>C | CA351217226 | COL6A3 | c.1081C>G (p.Gln361Glu) c.1699C>G (p.Gln567Glu) c.478C>G (p.Gln160Glu) c.92-3769C>G (n.92-3769C>G) | |
2 | g.237381113G= | CA1337627263 | COL6A3 | c.1081C= (p.Gln361=) c.1699C= (p.Gln567=) c.478C= (p.Gln160=) c.92-3769C= (n.92-3769C=) | |
2 | g.237381113G>T | CA351217227 | COL6A3 | c.1081C>A (p.Gln361Lys) c.1699C>A (p.Gln567Lys) c.478C>A (p.Gln160Lys) c.92-3769C>A (n.92-3769C>A) | |
2 | g.237381114G>A | CA431712600 | COL6A3 | c.1080C>T (p.Ser360=) c.1698C>T (p.Ser566=) c.477C>T (p.Ser159=) c.92-3770C>T (n.92-3770C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381114G>C | CA351217228 | COL6A3 | c.1080C>G (p.Ser360Arg) c.1698C>G (p.Ser566Arg) c.477C>G (p.Ser159Arg) c.92-3770C>G (n.92-3770C>G) | |
2 | g.237381114G= | CA1337627264 | COL6A3 | c.1080C= (p.Ser360=) c.1698C= (p.Ser566=) c.477C= (p.Ser159=) c.92-3770C= (n.92-3770C=) | |
2 | g.237381114G>T | CA351217229 | COL6A3 | c.1080C>A (p.Ser360Arg) c.1698C>A (p.Ser566Arg) c.477C>A (p.Ser159Arg) c.92-3770C>A (n.92-3770C>A) | |
2 | g.237381115C>A | CA351217230 | COL6A3 | c.1079G>T (p.Ser360Ile) c.1697G>T (p.Ser566Ile) c.476G>T (p.Ser159Ile) c.92-3771G>T (n.92-3771G>T) | |
2 | g.237381115C>G | CA351217231 | COL6A3 | c.1079G>C (p.Ser360Thr) c.1697G>C (p.Ser566Thr) c.476G>C (p.Ser159Thr) c.92-3771G>C (n.92-3771G>C) | |
2 | g.237381115C>T | CA351217232 | COL6A3 | c.1079G>A (p.Ser360Asn) c.1697G>A (p.Ser566Asn) c.476G>A (p.Ser159Asn) c.92-3771G>A (n.92-3771G>A) | |
2 | g.237381116T>A | CA351217233 | COL6A3 | c.1078A>T (p.Ser360Cys) c.1696A>T (p.Ser566Cys) c.475A>T (p.Ser159Cys) c.92-3772A>T (n.92-3772A>T) | |
2 | g.237381116T>C | CA351217234 | COL6A3 | c.1078A>G (p.Ser360Gly) c.1696A>G (p.Ser566Gly) c.475A>G (p.Ser159Gly) c.92-3772A>G (n.92-3772A>G) | |
2 | g.237381116T>G | CA351217235 | COL6A3 | c.1078A>C (p.Ser360Arg) c.1696A>C (p.Ser566Arg) c.475A>C (p.Ser159Arg) c.92-3772A>C (n.92-3772A>C) | |
2 | g.237381117G>A | CA431712601 | COL6A3 | c.1077C>T (p.Ile359=) c.1695C>T (p.Ile565=) c.474C>T (p.Ile158=) c.92-3773C>T (n.92-3773C>T) | |
2 | g.237381117G>C | CA351217236 | COL6A3 | c.1077C>G (p.Ile359Met) c.1695C>G (p.Ile565Met) c.474C>G (p.Ile158Met) c.92-3773C>G (n.92-3773C>G) | gnomAD v4 |
2 | g.237381117G>T | CA431712603 | COL6A3 | c.1077C>A (p.Ile359=) c.1695C>A (p.Ile565=) c.474C>A (p.Ile158=) c.92-3773C>A (n.92-3773C>A) | |
2 | g.237381118A>C | CA351217238 | COL6A3 | c.1076T>G (p.Ile359Ser) c.1694T>G (p.Ile565Ser) c.473T>G (p.Ile158Ser) c.92-3774T>G (n.92-3774T>G) | |
2 | g.237381118A>G | CA351217239 | COL6A3 | c.1076T>C (p.Ile359Thr) c.1694T>C (p.Ile565Thr) c.473T>C (p.Ile158Thr) c.92-3774T>C (n.92-3774T>C) | ClinVar |
2 | g.237381118A>T | CA351217237 | COL6A3 | c.1076T>A (p.Ile359Asn) c.1694T>A (p.Ile565Asn) c.473T>A (p.Ile158Asn) c.92-3774T>A (n.92-3774T>A) | |
2 | g.237381119T>A | CA351217240 | COL6A3 | c.1075A>T (p.Ile359Phe) c.1693A>T (p.Ile565Phe) c.472A>T (p.Ile158Phe) c.92-3775A>T (n.92-3775A>T) | |
2 | g.237381119T>C | CA351217241 | COL6A3 | c.1075A>G (p.Ile359Val) c.1693A>G (p.Ile565Val) c.472A>G (p.Ile158Val) c.92-3775A>G (n.92-3775A>G) | dbSNP |
2 | g.237381119T>G | CA351217242 | COL6A3 | c.1075A>C (p.Ile359Leu) c.1693A>C (p.Ile565Leu) c.472A>C (p.Ile158Leu) c.92-3775A>C (n.92-3775A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381119T= | CA1337627265 | COL6A3 | c.1075A= (p.Ile359=) c.1693A= (p.Ile565=) c.472A= (p.Ile158=) c.92-3775A= (n.92-3775A=) | |
2 | g.237381120T>A | CA351217243 | COL6A3 | c.1074A>T (p.Glu358Asp) c.1692A>T (p.Glu564Asp) c.471A>T (p.Glu157Asp) c.92-3776A>T (n.92-3776A>T) | |
2 | g.237381120T>C | CA431712604 | COL6A3 | c.1074A>G (p.Glu358=) c.1692A>G (p.Glu564=) c.471A>G (p.Glu157=) c.92-3776A>G (n.92-3776A>G) | |
2 | g.237381120T>G | CA351217244 | COL6A3 | c.1074A>C (p.Glu358Asp) c.1692A>C (p.Glu564Asp) c.471A>C (p.Glu157Asp) c.92-3776A>C (n.92-3776A>C) | |
2 | g.237381121T>A | CA351217247 | COL6A3 | c.1073A>T (p.Glu358Val) c.1691A>T (p.Glu564Val) c.470A>T (p.Glu157Val) c.92-3777A>T (n.92-3777A>T) | |
2 | g.237381121T>C | CA351217245 | COL6A3 | c.1073A>G (p.Glu358Gly) c.1691A>G (p.Glu564Gly) c.470A>G (p.Glu157Gly) c.92-3777A>G (n.92-3777A>G) | |
2 | g.237381121T>G | CA351217246 | COL6A3 | c.1073A>C (p.Glu358Ala) c.1691A>C (p.Glu564Ala) c.470A>C (p.Glu157Ala) c.92-3777A>C (n.92-3777A>C) | |
2 | g.237381122C>A | CA351217248 | COL6A3 | c.1072G>T (p.Glu358Ter) c.1690G>T (p.Glu564Ter) c.469G>T (p.Glu157Ter) c.92-3778G>T (n.92-3778G>T) | |
2 | g.237381122C>G | CA351217249 | COL6A3 | c.1072G>C (p.Glu358Gln) c.1690G>C (p.Glu564Gln) c.469G>C (p.Glu157Gln) c.92-3778G>C (n.92-3778G>C) | |
2 | g.237381122C>T | CA351217250 | COL6A3 | c.1072G>A (p.Glu358Lys) c.1690G>A (p.Glu564Lys) c.469G>A (p.Glu157Lys) c.92-3778G>A (n.92-3778G>A) | |
2 | g.237381123A= | CA1337627266 | COL6A3 | c.1071T= (p.Asp357=) c.1689T= (p.Asp563=) c.468T= (p.Asp156=) c.92-3779T= (n.92-3779T=) | |
2 | g.237381123A>C | CA351217251 | COL6A3 | c.1071T>G (p.Asp357Glu) c.1689T>G (p.Asp563Glu) c.468T>G (p.Asp156Glu) c.92-3779T>G (n.92-3779T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381123A>G | CA431712605 | COL6A3 | c.1071T>C (p.Asp357=) c.1689T>C (p.Asp563=) c.468T>C (p.Asp156=) c.92-3779T>C (n.92-3779T>C) | ClinVar dbSNP |
2 | g.237381123A>T | CA351217252 | COL6A3 | c.1071T>A (p.Asp357Glu) c.1689T>A (p.Asp563Glu) c.468T>A (p.Asp156Glu) c.92-3779T>A (n.92-3779T>A) | |
2 | g.237381124T>A | CA351217253 | COL6A3 | c.1070A>T (p.Asp357Val) c.1688A>T (p.Asp563Val) c.467A>T (p.Asp156Val) c.92-3780A>T (n.92-3780A>T) | ClinVar gnomAD v4 |
2 | g.237381124T>C | CA222588 | COL6A3 | c.1070A>G (p.Asp357Gly) c.1688A>G (p.Asp563Gly) c.467A>G (p.Asp156Gly) c.92-3780A>G (n.92-3780A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381124T>G | CA351217254 | COL6A3 | c.1070A>C (p.Asp357Ala) c.1688A>C (p.Asp563Ala) c.467A>C (p.Asp156Ala) c.92-3780A>C (n.92-3780A>C) | |
2 | g.237381124T= | CA1337627267 | COL6A3 | c.1070A= (p.Asp357=) c.1688A= (p.Asp563=) c.467A= (p.Asp156=) c.92-3780A= (n.92-3780A=) | |
2 | g.237381125C>A | CA351217255 | COL6A3 | c.1069G>T (p.Asp357Tyr) c.1687G>T (p.Asp563Tyr) c.466G>T (p.Asp156Tyr) c.92-3781G>T (n.92-3781G>T) | ClinVar |
2 | g.237381125C>G | CA351217257 | COL6A3 | c.1069G>C (p.Asp357His) c.1687G>C (p.Asp563His) c.466G>C (p.Asp156His) c.92-3781G>C (n.92-3781G>C) | |
2 | g.237381125C>T | CA351217256 | COL6A3 | c.1069G>A (p.Asp357Asn) c.1687G>A (p.Asp563Asn) c.466G>A (p.Asp156Asn) c.92-3781G>A (n.92-3781G>A) | |
2 | g.237381126T>A | CA431712608 | COL6A3 | c.1068A>T (p.Leu356=) c.1686A>T (p.Leu562=) c.465A>T (p.Leu155=) c.92-3782A>T (n.92-3782A>T) | |
2 | g.237381126T>C | CA431712606 | COL6A3 | c.1068A>G (p.Leu356=) c.1686A>G (p.Leu562=) c.465A>G (p.Leu155=) c.92-3782A>G (n.92-3782A>G) | |
2 | g.237381126T>G | CA431712607 | COL6A3 | c.1068A>C (p.Leu356=) c.1686A>C (p.Leu562=) c.465A>C (p.Leu155=) c.92-3782A>C (n.92-3782A>C) | |
2 | g.237381127A>C | CA351217258 | COL6A3 | c.1067T>G (p.Leu356Arg) c.1685T>G (p.Leu562Arg) c.464T>G (p.Leu155Arg) c.92-3783T>G (n.92-3783T>G) | |
2 | g.237381127A>G | CA351217260 | COL6A3 | c.1067T>C (p.Leu356Pro) c.1685T>C (p.Leu562Pro) c.464T>C (p.Leu155Pro) c.92-3783T>C (n.92-3783T>C) | gnomAD v4 |
2 | g.237381127A>T | CA351217259 | COL6A3 | c.1067T>A (p.Leu356Gln) c.1685T>A (p.Leu562Gln) c.464T>A (p.Leu155Gln) c.92-3783T>A (n.92-3783T>A) | |
2 | g.237381128G>A | CA431712609 | COL6A3 | c.1066C>T (p.Leu356=) c.1684C>T (p.Leu562=) c.463C>T (p.Leu155=) c.92-3784C>T (n.92-3784C>T) | COSMIC COSMIC |
2 | g.237381128G>C | CA351217261 | COL6A3 | c.1066C>G (p.Leu356Val) c.1684C>G (p.Leu562Val) c.463C>G (p.Leu155Val) c.92-3784C>G (n.92-3784C>G) | |
2 | g.237381128G>T | CA351217262 | COL6A3 | c.1066C>A (p.Leu356Ile) c.1684C>A (p.Leu562Ile) c.463C>A (p.Leu155Ile) c.92-3784C>A (n.92-3784C>A) | |
2 | g.237381129G>A | CA431712610 | COL6A3 | c.1065C>T (p.Ser355=) c.1683C>T (p.Ser561=) c.462C>T (p.Ser154=) c.92-3785C>T (n.92-3785C>T) | |
2 | g.237381129G>C | CA431712611 | COL6A3 | c.1065C>G (p.Ser355=) c.1683C>G (p.Ser561=) c.462C>G (p.Ser154=) c.92-3785C>G (n.92-3785C>G) | |
2 | g.237381129G>T | CA431712612 | COL6A3 | c.1065C>A (p.Ser355=) c.1683C>A (p.Ser561=) c.462C>A (p.Ser154=) c.92-3785C>A (n.92-3785C>A) | |
2 | g.237381130G>A | CA351217263 | COL6A3 | c.1064C>T (p.Ser355Phe) c.1682C>T (p.Ser561Phe) c.461C>T (p.Ser154Phe) c.92-3786C>T (n.92-3786C>T) | |
2 | g.237381130G>C | CA351217264 | COL6A3 | c.1064C>G (p.Ser355Cys) c.1682C>G (p.Ser561Cys) c.461C>G (p.Ser154Cys) c.92-3786C>G (n.92-3786C>G) | |
2 | g.237381130G>T | CA351217265 | COL6A3 | c.1064C>A (p.Ser355Tyr) c.1682C>A (p.Ser561Tyr) c.461C>A (p.Ser154Tyr) c.92-3786C>A (n.92-3786C>A) | |
2 | g.237381131A>C | CA351217266 | COL6A3 | c.1063T>G (p.Ser355Ala) c.1681T>G (p.Ser561Ala) c.460T>G (p.Ser154Ala) c.92-3787T>G (n.92-3787T>G) | |
2 | g.237381131A>G | CA351217267 | COL6A3 | c.1063T>C (p.Ser355Pro) c.1681T>C (p.Ser561Pro) c.460T>C (p.Ser154Pro) c.92-3787T>C (n.92-3787T>C) | |
2 | g.237381131A>T | CA351217268 | COL6A3 | c.1063T>A (p.Ser355Thr) c.1681T>A (p.Ser561Thr) c.460T>A (p.Ser154Thr) c.92-3787T>A (n.92-3787T>A) | |
2 | g.237381132C>A | CA351217269 | COL6A3 | c.1062G>T (p.Lys354Asn) c.1680G>T (p.Lys560Asn) c.459G>T (p.Lys153Asn) c.92-3788G>T (n.92-3788G>T) | |
2 | g.237381132C>G | CA351217270 | COL6A3 | c.1062G>C (p.Lys354Asn) c.1680G>C (p.Lys560Asn) c.459G>C (p.Lys153Asn) c.92-3788G>C (n.92-3788G>C) | |
2 | g.237381132C>T | CA431712613 | COL6A3 | c.1062G>A (p.Lys354=) c.1680G>A (p.Lys560=) c.459G>A (p.Lys153=) c.92-3788G>A (n.92-3788G>A) | |
2 | g.237381133T>A | CA351217271 | COL6A3 | c.1061A>T (p.Lys354Met) c.1679A>T (p.Lys560Met) c.458A>T (p.Lys153Met) c.92-3789A>T (n.92-3789A>T) | |
2 | g.237381133T>C | CA351217272 | COL6A3 | c.1061A>G (p.Lys354Arg) c.1679A>G (p.Lys560Arg) c.458A>G (p.Lys153Arg) c.92-3789A>G (n.92-3789A>G) | |
2 | g.237381133T>G | CA2189567 | COL6A3 | c.1061A>C (p.Lys354Thr) c.1679A>C (p.Lys560Thr) c.458A>C (p.Lys153Thr) c.92-3789A>C (n.92-3789A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381133T= | CA1337627268 | COL6A3 | c.1061A= (p.Lys354=) c.1679A= (p.Lys560=) c.458A= (p.Lys153=) c.92-3789A= (n.92-3789A=) | |
2 | g.237381134T>A | CA351217274 | COL6A3 | c.1060A>T (p.Lys354Ter) c.1678A>T (p.Lys560Ter) c.457A>T (p.Lys153Ter) c.92-3790A>T (n.92-3790A>T) | |
2 | g.237381134T>C | CA2189568 | COL6A3 | c.1060A>G (p.Lys354Glu) c.1678A>G (p.Lys560Glu) c.457A>G (p.Lys153Glu) c.92-3790A>G (n.92-3790A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237381134T>G | CA351217273 | COL6A3 | c.1060A>C (p.Lys354Gln) c.1678A>C (p.Lys560Gln) c.457A>C (p.Lys153Gln) c.92-3790A>C (n.92-3790A>C) | |
2 | g.237381134T= | CA1337627269 | COL6A3 | c.1060A= (p.Lys354=) c.1678A= (p.Lys560=) c.457A= (p.Lys153=) c.92-3790A= (n.92-3790A=) | |
2 | g.237381135A>C | CA431712614 | COL6A3 | c.1059T>G (p.Gly353=) c.1677T>G (p.Gly559=) c.456T>G (p.Gly152=) c.92-3791T>G (n.92-3791T>G) | |
2 | g.237381135A>G | CA431712616 | COL6A3 | c.1059T>C (p.Gly353=) c.1677T>C (p.Gly559=) c.456T>C (p.Gly152=) c.92-3791T>C (n.92-3791T>C) | gnomAD v4 |
2 | g.237381135A>T | CA431712615 | COL6A3 | c.1059T>A (p.Gly353=) c.1677T>A (p.Gly559=) c.456T>A (p.Gly152=) c.92-3791T>A (n.92-3791T>A) | |
2 | g.237381135dup | CA2586965617 | COL6A3 | c.1059dup (p.Lys354Ter) c.1677dup (p.Lys560Ter) c.456dup (p.Lys153Ter) c.92-3791dup (n.92-3791dup) | |
2 | g.237381136C>A | CA351217275 | COL6A3 | c.1058G>T (p.Gly353Val) c.1676G>T (p.Gly559Val) c.455G>T (p.Gly152Val) c.92-3792G>T (n.92-3792G>T) | |
2 | g.237381136C= | CA1337627270 | COL6A3 | c.1058G= (p.Gly353=) c.1676G= (p.Gly559=) c.455G= (p.Gly152=) c.92-3792G= (n.92-3792G=) | |
2 | g.237381136C>G | CA351217276 | COL6A3 | c.1058G>C (p.Gly353Ala) c.1676G>C (p.Gly559Ala) c.455G>C (p.Gly152Ala) c.92-3792G>C (n.92-3792G>C) | |
2 | g.237381136C>T | CA2189569 | COL6A3 | c.1058G>A (p.Gly353Asp) c.1676G>A (p.Gly559Asp) c.455G>A (p.Gly152Asp) c.92-3792G>A (n.92-3792G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381137C>A | CA351217277 | COL6A3 | c.1057G>T (p.Gly353Cys) c.1675G>T (p.Gly559Cys) c.454G>T (p.Gly152Cys) c.92-3793G>T (n.92-3793G>T) | |
2 | g.237381137C>G | CA351217278 | COL6A3 | c.1057G>C (p.Gly353Arg) c.1675G>C (p.Gly559Arg) c.454G>C (p.Gly152Arg) c.92-3793G>C (n.92-3793G>C) | |
2 | g.237381137C>T | CA351217279 | COL6A3 | c.1057G>A (p.Gly353Ser) c.1675G>A (p.Gly559Ser) c.454G>A (p.Gly152Ser) c.92-3793G>A (n.92-3793G>A) | |
2 | g.237381138A>C | CA431712617 | COL6A3 | c.1056T>G (p.Gly352=) c.1674T>G (p.Gly558=) c.453T>G (p.Gly151=) c.92-3794T>G (n.92-3794T>G) | |
2 | g.237381138A>G | CA431712618 | COL6A3 | c.1056T>C (p.Gly352=) c.1674T>C (p.Gly558=) c.453T>C (p.Gly151=) c.92-3794T>C (n.92-3794T>C) | gnomAD v4 |
2 | g.237381138A>T | CA431712619 | COL6A3 | c.1056T>A (p.Gly352=) c.1674T>A (p.Gly558=) c.453T>A (p.Gly151=) c.92-3794T>A (n.92-3794T>A) | |
2 | g.237381139C>A | CA351217280 | COL6A3 | c.1055G>T (p.Gly352Val) c.1673G>T (p.Gly558Val) c.452G>T (p.Gly151Val) c.92-3795G>T (n.92-3795G>T) | gnomAD v4 |
2 | g.237381139C>G | CA351217281 | COL6A3 | c.1055G>C (p.Gly352Ala) c.1673G>C (p.Gly558Ala) c.452G>C (p.Gly151Ala) c.92-3795G>C (n.92-3795G>C) | |
2 | g.237381139C>T | CA351217282 | COL6A3 | c.1055G>A (p.Gly352Asp) c.1673G>A (p.Gly558Asp) c.452G>A (p.Gly151Asp) c.92-3795G>A (n.92-3795G>A) | dbSNP gnomAD v4 |
2 | g.237381140C>A | CA351217283 | COL6A3 | c.1054G>T (p.Gly352Cys) c.1672G>T (p.Gly558Cys) c.451G>T (p.Gly151Cys) c.92-3796G>T (n.92-3796G>T) | gnomAD v4 |
2 | g.237381140C>G | CA351217284 | COL6A3 | c.1054G>C (p.Gly352Arg) c.1672G>C (p.Gly558Arg) c.451G>C (p.Gly151Arg) c.92-3796G>C (n.92-3796G>C) | |
2 | g.237381140C>T | CA351217285 | COL6A3 | c.1054G>A (p.Gly352Ser) c.1672G>A (p.Gly558Ser) c.451G>A (p.Gly151Ser) c.92-3796G>A (n.92-3796G>A) |