Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237366821A>C | CA351187631 | COL6A3 | c.4748T>G (p.Ile1583Arg) c.5366T>G (p.Ile1789Arg) c.3545T>G (p.Ile1182Arg) c.4766T>G (p.Ile1589Arg) c.4145T>G (p.Ile1382Arg) c.4865T>G (p.Ile1622Arg) c.5363T>G (p.Ile1788Arg) c.2960T>G (p.Ile987Arg) | |
2 | g.237366821A>G | CA351187632 | COL6A3 | c.4748T>C (p.Ile1583Thr) c.5366T>C (p.Ile1789Thr) c.3545T>C (p.Ile1182Thr) c.4766T>C (p.Ile1589Thr) c.4145T>C (p.Ile1382Thr) c.4865T>C (p.Ile1622Thr) c.5363T>C (p.Ile1788Thr) c.2960T>C (p.Ile987Thr) | gnomAD v4 |
2 | g.237366821A>T | CA351187633 | COL6A3 | c.4748T>A (p.Ile1583Lys) c.5366T>A (p.Ile1789Lys) c.3545T>A (p.Ile1182Lys) c.4766T>A (p.Ile1589Lys) c.4145T>A (p.Ile1382Lys) c.4865T>A (p.Ile1622Lys) c.5363T>A (p.Ile1788Lys) c.2960T>A (p.Ile987Lys) | |
2 | g.237366822T>A | CA351187634 | COL6A3 | c.4747A>T (p.Ile1583Leu) c.5365A>T (p.Ile1789Leu) c.3544A>T (p.Ile1182Leu) c.4765A>T (p.Ile1589Leu) c.4144A>T (p.Ile1382Leu) c.4864A>T (p.Ile1622Leu) c.5362A>T (p.Ile1788Leu) c.2959A>T (p.Ile987Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366822T>C | CA351187635 | COL6A3 | c.4747A>G (p.Ile1583Val) c.5365A>G (p.Ile1789Val) c.3544A>G (p.Ile1182Val) c.4765A>G (p.Ile1589Val) c.4144A>G (p.Ile1382Val) c.4864A>G (p.Ile1622Val) c.5362A>G (p.Ile1788Val) c.2959A>G (p.Ile987Val) | |
2 | g.237366822T>G | CA351187636 | COL6A3 | c.4747A>C (p.Ile1583Leu) c.5365A>C (p.Ile1789Leu) c.3544A>C (p.Ile1182Leu) c.4765A>C (p.Ile1589Leu) c.4144A>C (p.Ile1382Leu) c.4864A>C (p.Ile1622Leu) c.5362A>C (p.Ile1788Leu) c.2959A>C (p.Ile987Leu) | |
2 | g.237366822T= | CA1337620904 | COL6A3 | c.4747A= (p.Ile1583=) c.5365A= (p.Ile1789=) c.3544A= (p.Ile1182=) c.4765A= (p.Ile1589=) c.4144A= (p.Ile1382=) c.4864A= (p.Ile1622=) c.5362A= (p.Ile1788=) c.2959A= (p.Ile987=) | |
2 | g.237366823C>A | CA351187637 | COL6A3 | c.4746G>T (p.Lys1582Asn) c.5364G>T (p.Lys1788Asn) c.3543G>T (p.Lys1181Asn) c.4764G>T (p.Lys1588Asn) c.4143G>T (p.Lys1381Asn) c.4863G>T (p.Lys1621Asn) c.5361G>T (p.Lys1787Asn) c.2958G>T (p.Lys986Asn) | |
2 | g.237366823C>G | CA351187638 | COL6A3 | c.4746G>C (p.Lys1582Asn) c.5364G>C (p.Lys1788Asn) c.3543G>C (p.Lys1181Asn) c.4764G>C (p.Lys1588Asn) c.4143G>C (p.Lys1381Asn) c.4863G>C (p.Lys1621Asn) c.5361G>C (p.Lys1787Asn) c.2958G>C (p.Lys986Asn) | dbSNP |
2 | g.237366823C>T | CA431710933 | COL6A3 | c.4746G>A (p.Lys1582=) c.5364G>A (p.Lys1788=) c.3543G>A (p.Lys1181=) c.4764G>A (p.Lys1588=) c.4143G>A (p.Lys1381=) c.4863G>A (p.Lys1621=) c.5361G>A (p.Lys1787=) c.2958G>A (p.Lys986=) | gnomAD v4 |
2 | g.237366824T>A | CA351187640 | COL6A3 | c.4745A>T (p.Lys1582Met) c.5363A>T (p.Lys1788Met) c.3542A>T (p.Lys1181Met) c.4763A>T (p.Lys1588Met) c.4142A>T (p.Lys1381Met) c.4862A>T (p.Lys1621Met) c.5360A>T (p.Lys1787Met) c.2957A>T (p.Lys986Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366824T>C | CA351187641 | COL6A3 | c.4745A>G (p.Lys1582Arg) c.5363A>G (p.Lys1788Arg) c.3542A>G (p.Lys1181Arg) c.4763A>G (p.Lys1588Arg) c.4142A>G (p.Lys1381Arg) c.4862A>G (p.Lys1621Arg) c.5360A>G (p.Lys1787Arg) c.2957A>G (p.Lys986Arg) | |
2 | g.237366824T>G | CA351187639 | COL6A3 | c.4745A>C (p.Lys1582Thr) c.5363A>C (p.Lys1788Thr) c.3542A>C (p.Lys1181Thr) c.4763A>C (p.Lys1588Thr) c.4142A>C (p.Lys1381Thr) c.4862A>C (p.Lys1621Thr) c.5360A>C (p.Lys1787Thr) c.2957A>C (p.Lys986Thr) | |
2 | g.237366824T= | CA1337620905 | COL6A3 | c.4745A= (p.Lys1582=) c.5363A= (p.Lys1788=) c.3542A= (p.Lys1181=) c.4763A= (p.Lys1588=) c.4142A= (p.Lys1381=) c.4862A= (p.Lys1621=) c.5360A= (p.Lys1787=) c.2957A= (p.Lys986=) | |
2 | g.237366825T>A | CA351187644 | COL6A3 | c.4744A>T (p.Lys1582Ter) c.5362A>T (p.Lys1788Ter) c.3541A>T (p.Lys1181Ter) c.4762A>T (p.Lys1588Ter) c.4141A>T (p.Lys1381Ter) c.4861A>T (p.Lys1621Ter) c.5359A>T (p.Lys1787Ter) c.2956A>T (p.Lys986Ter) | |
2 | g.237366825T>C | CA351187642 | COL6A3 | c.4744A>G (p.Lys1582Glu) c.5362A>G (p.Lys1788Glu) c.3541A>G (p.Lys1181Glu) c.4762A>G (p.Lys1588Glu) c.4141A>G (p.Lys1381Glu) c.4861A>G (p.Lys1621Glu) c.5359A>G (p.Lys1787Glu) c.2956A>G (p.Lys986Glu) | |
2 | g.237366825T>G | CA351187643 | COL6A3 | c.4744A>C (p.Lys1582Gln) c.5362A>C (p.Lys1788Gln) c.3541A>C (p.Lys1181Gln) c.4762A>C (p.Lys1588Gln) c.4141A>C (p.Lys1381Gln) c.4861A>C (p.Lys1621Gln) c.5359A>C (p.Lys1787Gln) c.2956A>C (p.Lys986Gln) | |
2 | g.237366826T>A | CA431710937 | COL6A3 | c.4743A>T (p.Gly1581=) c.5361A>T (p.Gly1787=) c.3540A>T (p.Gly1180=) c.4761A>T (p.Gly1587=) c.4140A>T (p.Gly1380=) c.4860A>T (p.Gly1620=) c.5358A>T (p.Gly1786=) c.2955A>T (p.Gly985=) | |
2 | g.237366826T>C | CA431710935 | COL6A3 | c.4743A>G (p.Gly1581=) c.5361A>G (p.Gly1787=) c.3540A>G (p.Gly1180=) c.4761A>G (p.Gly1587=) c.4140A>G (p.Gly1380=) c.4860A>G (p.Gly1620=) c.5358A>G (p.Gly1786=) c.2955A>G (p.Gly985=) | |
2 | g.237366826T>G | CA431710936 | COL6A3 | c.4743A>C (p.Gly1581=) c.5361A>C (p.Gly1787=) c.3540A>C (p.Gly1180=) c.4761A>C (p.Gly1587=) c.4140A>C (p.Gly1380=) c.4860A>C (p.Gly1620=) c.5358A>C (p.Gly1786=) c.2955A>C (p.Gly985=) | |
2 | g.237366827C>A | CA351187645 | COL6A3 | c.4742G>T (p.Gly1581Val) c.5360G>T (p.Gly1787Val) c.3539G>T (p.Gly1180Val) c.4760G>T (p.Gly1587Val) c.4139G>T (p.Gly1380Val) c.4859G>T (p.Gly1620Val) c.5357G>T (p.Gly1786Val) c.2954G>T (p.Gly985Val) | |
2 | g.237366827C>G | CA351187646 | COL6A3 | c.4742G>C (p.Gly1581Ala) c.5360G>C (p.Gly1787Ala) c.3539G>C (p.Gly1180Ala) c.4760G>C (p.Gly1587Ala) c.4139G>C (p.Gly1380Ala) c.4859G>C (p.Gly1620Ala) c.5357G>C (p.Gly1786Ala) c.2954G>C (p.Gly985Ala) | |
2 | g.237366827C>T | CA351187647 | COL6A3 | c.4742G>A (p.Gly1581Glu) c.5360G>A (p.Gly1787Glu) c.3539G>A (p.Gly1180Glu) c.4760G>A (p.Gly1587Glu) c.4139G>A (p.Gly1380Glu) c.4859G>A (p.Gly1620Glu) c.5357G>A (p.Gly1786Glu) c.2954G>A (p.Gly985Glu) | COSMIC |
2 | g.237366828C>A | CA351187648 | COL6A3 | c.4741G>T (p.Gly1581Ter) c.5359G>T (p.Gly1787Ter) c.3538G>T (p.Gly1180Ter) c.4759G>T (p.Gly1587Ter) c.4138G>T (p.Gly1380Ter) c.4858G>T (p.Gly1620Ter) c.5356G>T (p.Gly1786Ter) c.2953G>T (p.Gly985Ter) | |
2 | g.237366828C>G | CA351187649 | COL6A3 | c.4741G>C (p.Gly1581Arg) c.5359G>C (p.Gly1787Arg) c.3538G>C (p.Gly1180Arg) c.4759G>C (p.Gly1587Arg) c.4138G>C (p.Gly1380Arg) c.4858G>C (p.Gly1620Arg) c.5356G>C (p.Gly1786Arg) c.2953G>C (p.Gly985Arg) | |
2 | g.237366828C>T | CA351187650 | COL6A3 | c.4741G>A (p.Gly1581Arg) c.5359G>A (p.Gly1787Arg) c.3538G>A (p.Gly1180Arg) c.4759G>A (p.Gly1587Arg) c.4138G>A (p.Gly1380Arg) c.4858G>A (p.Gly1620Arg) c.5356G>A (p.Gly1786Arg) c.2953G>A (p.Gly985Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.237366828_237366829delinsCA | CA1337620906 | COL6A3 | c.4740_4741delinsTG (p.Val1580=) c.5358_5359delinsTG (p.Val1786=) c.3537_3538delinsTG (p.Val1179=) c.4758_4759delinsTG (p.Val1586=) c.4137_4138delinsTG (p.Val1379=) c.4857_4858delinsTG (p.Val1619=) c.5355_5356delinsTG (p.Val1785=) c.2952_2953delinsTG (p.Val984=) | |
2 | g.237366829A= | CA1337620907 | COL6A3 | c.4740T= (p.Val1580=) c.5358T= (p.Val1786=) c.3537T= (p.Val1179=) c.4758T= (p.Val1586=) c.4137T= (p.Val1379=) c.4857T= (p.Val1619=) c.5355T= (p.Val1785=) c.2952T= (p.Val984=) | |
2 | g.237366829A>C | CA431710945 | COL6A3 | c.4740T>G (p.Val1580=) c.5358T>G (p.Val1786=) c.3537T>G (p.Val1179=) c.4758T>G (p.Val1586=) c.4137T>G (p.Val1379=) c.4857T>G (p.Val1619=) c.5355T>G (p.Val1785=) c.2952T>G (p.Val984=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366829A>G | CA431710946 | COL6A3 | c.4740T>C (p.Val1580=) c.5358T>C (p.Val1786=) c.3537T>C (p.Val1179=) c.4758T>C (p.Val1586=) c.4137T>C (p.Val1379=) c.4857T>C (p.Val1619=) c.5355T>C (p.Val1785=) c.2952T>C (p.Val984=) | |
2 | g.237366829A>T | CA431710949 | COL6A3 | c.4740T>A (p.Val1580=) c.5358T>A (p.Val1786=) c.3537T>A (p.Val1179=) c.4758T>A (p.Val1586=) c.4137T>A (p.Val1379=) c.4857T>A (p.Val1619=) c.5355T>A (p.Val1785=) c.2952T>A (p.Val984=) | |
2 | g.237366830del | CA2188685 | COL6A3 | c.4740del (p.Gly1581GlufsTer3) c.5358del (p.Gly1787GlufsTer3) c.3537del (p.Gly1180GlufsTer3) c.4758del (p.Gly1587GlufsTer3) c.4137del (p.Gly1380GlufsTer3) c.4857del (p.Gly1620GlufsTer3) c.5355del (p.Gly1786GlufsTer3) c.2952del (p.Gly985GlufsTer3) | dbSNP ExAC |
2 | g.237366830A= | CA1337620908 | COL6A3 | c.4739T= (p.Val1580=) c.5357T= (p.Val1786=) c.3536T= (p.Val1179=) c.4757T= (p.Val1586=) c.4136T= (p.Val1379=) c.4856T= (p.Val1619=) c.5354T= (p.Val1785=) c.2951T= (p.Val984=) | |
2 | g.237366830A>C | CA351187651 | COL6A3 | c.4739T>G (p.Val1580Gly) c.5357T>G (p.Val1786Gly) c.3536T>G (p.Val1179Gly) c.4757T>G (p.Val1586Gly) c.4136T>G (p.Val1379Gly) c.4856T>G (p.Val1619Gly) c.5354T>G (p.Val1785Gly) c.2951T>G (p.Val984Gly) | |
2 | g.237366830A>G | CA351187652 | COL6A3 | c.4739T>C (p.Val1580Ala) c.5357T>C (p.Val1786Ala) c.3536T>C (p.Val1179Ala) c.4757T>C (p.Val1586Ala) c.4136T>C (p.Val1379Ala) c.4856T>C (p.Val1619Ala) c.5354T>C (p.Val1785Ala) c.2951T>C (p.Val984Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.237366830A>T | CA351187653 | COL6A3 | c.4739T>A (p.Val1580Asp) c.5357T>A (p.Val1786Asp) c.3536T>A (p.Val1179Asp) c.4757T>A (p.Val1586Asp) c.4136T>A (p.Val1379Asp) c.4856T>A (p.Val1619Asp) c.5354T>A (p.Val1785Asp) c.2951T>A (p.Val984Asp) | |
2 | g.237366830_237366831delinsAC | CA1337620909 | COL6A3 | c.4738_4739delinsGT (p.Val1580=) c.5356_5357delinsGT (p.Val1786=) c.3535_3536delinsGT (p.Val1179=) c.4756_4757delinsGT (p.Val1586=) c.4135_4136delinsGT (p.Val1379=) c.4855_4856delinsGT (p.Val1619=) c.5353_5354delinsGT (p.Val1785=) c.2950_2951delinsGT (p.Val984=) | |
2 | g.237366831C>A | CA351187656 | COL6A3 | c.4738G>T (p.Val1580Phe) c.5356G>T (p.Val1786Phe) c.3535G>T (p.Val1179Phe) c.4756G>T (p.Val1586Phe) c.4135G>T (p.Val1379Phe) c.4855G>T (p.Val1619Phe) c.5353G>T (p.Val1785Phe) c.2950G>T (p.Val984Phe) | |
2 | g.237366831C>G | CA351187655 | COL6A3 | c.4738G>C (p.Val1580Leu) c.5356G>C (p.Val1786Leu) c.3535G>C (p.Val1179Leu) c.4756G>C (p.Val1586Leu) c.4135G>C (p.Val1379Leu) c.4855G>C (p.Val1619Leu) c.5353G>C (p.Val1785Leu) c.2950G>C (p.Val984Leu) | |
2 | g.237366831C>T | CA351187654 | COL6A3 | c.4738G>A (p.Val1580Ile) c.5356G>A (p.Val1786Ile) c.3535G>A (p.Val1179Ile) c.4756G>A (p.Val1586Ile) c.4135G>A (p.Val1379Ile) c.4855G>A (p.Val1619Ile) c.5353G>A (p.Val1785Ile) c.2950G>A (p.Val984Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.237366832del | CA540749816 | COL6A3 | c.4738del (p.Val1580LeufsTer4) c.5356del (p.Val1786LeufsTer4) c.3535del (p.Val1179LeufsTer4) c.4756del (p.Val1586LeufsTer4) c.4135del (p.Val1379LeufsTer4) c.4855del (p.Val1619LeufsTer4) c.5353del (p.Val1785LeufsTer4) c.2950del (p.Val984LeufsTer4) | dbSNP gnomAD v2 |
2 | g.237366832C>A | CA2188686 | COL6A3 | c.4737G>T (p.Glu1579Asp) c.5355G>T (p.Glu1785Asp) c.3534G>T (p.Glu1178Asp) c.4755G>T (p.Glu1585Asp) c.4134G>T (p.Glu1378Asp) c.4854G>T (p.Glu1618Asp) c.5352G>T (p.Glu1784Asp) c.2949G>T (p.Glu983Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366832C= | CA1337620910 | COL6A3 | c.4737G= (p.Glu1579=) c.5355G= (p.Glu1785=) c.3534G= (p.Glu1178=) c.4755G= (p.Glu1585=) c.4134G= (p.Glu1378=) c.4854G= (p.Glu1618=) c.5352G= (p.Glu1784=) c.2949G= (p.Glu983=) | |
2 | g.237366832C>G | CA351187657 | COL6A3 | c.4737G>C (p.Glu1579Asp) c.5355G>C (p.Glu1785Asp) c.3534G>C (p.Glu1178Asp) c.4755G>C (p.Glu1585Asp) c.4134G>C (p.Glu1378Asp) c.4854G>C (p.Glu1618Asp) c.5352G>C (p.Glu1784Asp) c.2949G>C (p.Glu983Asp) | |
2 | g.237366832C>T | CA431710954 | COL6A3 | c.4737G>A (p.Glu1579=) c.5355G>A (p.Glu1785=) c.3534G>A (p.Glu1178=) c.4755G>A (p.Glu1585=) c.4134G>A (p.Glu1378=) c.4854G>A (p.Glu1618=) c.5352G>A (p.Glu1784=) c.2949G>A (p.Glu983=) | |
2 | g.237366833T>A | CA351187658 | COL6A3 | c.4736A>T (p.Glu1579Val) c.5354A>T (p.Glu1785Val) c.3533A>T (p.Glu1178Val) c.4754A>T (p.Glu1585Val) c.4133A>T (p.Glu1378Val) c.4853A>T (p.Glu1618Val) c.5351A>T (p.Glu1784Val) c.2948A>T (p.Glu983Val) | |
2 | g.237366833T>C | CA351187659 | COL6A3 | c.4736A>G (p.Glu1579Gly) c.5354A>G (p.Glu1785Gly) c.3533A>G (p.Glu1178Gly) c.4754A>G (p.Glu1585Gly) c.4133A>G (p.Glu1378Gly) c.4853A>G (p.Glu1618Gly) c.5351A>G (p.Glu1784Gly) c.2948A>G (p.Glu983Gly) | |
2 | g.237366833T>G | CA351187660 | COL6A3 | c.4736A>C (p.Glu1579Ala) c.5354A>C (p.Glu1785Ala) c.3533A>C (p.Glu1178Ala) c.4754A>C (p.Glu1585Ala) c.4133A>C (p.Glu1378Ala) c.4853A>C (p.Glu1618Ala) c.5351A>C (p.Glu1784Ala) c.2948A>C (p.Glu983Ala) | |
2 | g.237366834C>A | CA351187661 | COL6A3 | c.4735G>T (p.Glu1579Ter) c.5353G>T (p.Glu1785Ter) c.3532G>T (p.Glu1178Ter) c.4753G>T (p.Glu1585Ter) c.4132G>T (p.Glu1378Ter) c.4852G>T (p.Glu1618Ter) c.5350G>T (p.Glu1784Ter) c.2947G>T (p.Glu983Ter) | |
2 | g.237366834C>G | CA351187662 | COL6A3 | c.4735G>C (p.Glu1579Gln) c.5353G>C (p.Glu1785Gln) c.3532G>C (p.Glu1178Gln) c.4753G>C (p.Glu1585Gln) c.4132G>C (p.Glu1378Gln) c.4852G>C (p.Glu1618Gln) c.5350G>C (p.Glu1784Gln) c.2947G>C (p.Glu983Gln) | |
2 | g.237366834C>T | CA351187663 | COL6A3 | c.4735G>A (p.Glu1579Lys) c.5353G>A (p.Glu1785Lys) c.3532G>A (p.Glu1178Lys) c.4753G>A (p.Glu1585Lys) c.4132G>A (p.Glu1378Lys) c.4852G>A (p.Glu1618Lys) c.5350G>A (p.Glu1784Lys) c.2947G>A (p.Glu983Lys) | |
2 | g.237366835C>A | CA351187664 | COL6A3 | c.4734G>T (p.Glu1578Asp) c.5352G>T (p.Glu1784Asp) c.3531G>T (p.Glu1177Asp) c.4752G>T (p.Glu1584Asp) c.4131G>T (p.Glu1377Asp) c.4851G>T (p.Glu1617Asp) c.5349G>T (p.Glu1783Asp) c.2946G>T (p.Glu982Asp) | |
2 | g.237366835C>G | CA351187665 | COL6A3 | c.4734G>C (p.Glu1578Asp) c.5352G>C (p.Glu1784Asp) c.3531G>C (p.Glu1177Asp) c.4752G>C (p.Glu1584Asp) c.4131G>C (p.Glu1377Asp) c.4851G>C (p.Glu1617Asp) c.5349G>C (p.Glu1783Asp) c.2946G>C (p.Glu982Asp) | |
2 | g.237366835C>T | CA431710961 | COL6A3 | c.4734G>A (p.Glu1578=) c.5352G>A (p.Glu1784=) c.3531G>A (p.Glu1177=) c.4752G>A (p.Glu1584=) c.4131G>A (p.Glu1377=) c.4851G>A (p.Glu1617=) c.5349G>A (p.Glu1783=) c.2946G>A (p.Glu982=) | dbSNP gnomAD v4 COSMIC |
2 | g.237366836T>A | CA351187666 | COL6A3 | c.4733A>T (p.Glu1578Val) c.5351A>T (p.Glu1784Val) c.3530A>T (p.Glu1177Val) c.4751A>T (p.Glu1584Val) c.4130A>T (p.Glu1377Val) c.4850A>T (p.Glu1617Val) c.5348A>T (p.Glu1783Val) c.2945A>T (p.Glu982Val) | |
2 | g.237366836T>C | CA351187667 | COL6A3 | c.4733A>G (p.Glu1578Gly) c.5351A>G (p.Glu1784Gly) c.3530A>G (p.Glu1177Gly) c.4751A>G (p.Glu1584Gly) c.4130A>G (p.Glu1377Gly) c.4850A>G (p.Glu1617Gly) c.5348A>G (p.Glu1783Gly) c.2945A>G (p.Glu982Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.237366836T>G | CA351187668 | COL6A3 | c.4733A>C (p.Glu1578Ala) c.5351A>C (p.Glu1784Ala) c.3530A>C (p.Glu1177Ala) c.4751A>C (p.Glu1584Ala) c.4130A>C (p.Glu1377Ala) c.4850A>C (p.Glu1617Ala) c.5348A>C (p.Glu1783Ala) c.2945A>C (p.Glu982Ala) | |
2 | g.237366836T= | CA1337620911 | COL6A3 | c.4733A= (p.Glu1578=) c.5351A= (p.Glu1784=) c.3530A= (p.Glu1177=) c.4751A= (p.Glu1584=) c.4130A= (p.Glu1377=) c.4850A= (p.Glu1617=) c.5348A= (p.Glu1783=) c.2945A= (p.Glu982=) | |
2 | g.237366837C>A | CA351187671 | COL6A3 | c.4732G>T (p.Glu1578Ter) c.5350G>T (p.Glu1784Ter) c.3529G>T (p.Glu1177Ter) c.4750G>T (p.Glu1584Ter) c.4129G>T (p.Glu1377Ter) c.4849G>T (p.Glu1617Ter) c.5347G>T (p.Glu1783Ter) c.2944G>T (p.Glu982Ter) | |
2 | g.237366837C>G | CA351187670 | COL6A3 | c.4732G>C (p.Glu1578Gln) c.5350G>C (p.Glu1784Gln) c.3529G>C (p.Glu1177Gln) c.4750G>C (p.Glu1584Gln) c.4129G>C (p.Glu1377Gln) c.4849G>C (p.Glu1617Gln) c.5347G>C (p.Glu1783Gln) c.2944G>C (p.Glu982Gln) | |
2 | g.237366837C>T | CA351187669 | COL6A3 | c.4732G>A (p.Glu1578Lys) c.5350G>A (p.Glu1784Lys) c.3529G>A (p.Glu1177Lys) c.4750G>A (p.Glu1584Lys) c.4129G>A (p.Glu1377Lys) c.4849G>A (p.Glu1617Lys) c.5347G>A (p.Glu1783Lys) c.2944G>A (p.Glu982Lys) | |
2 | g.237366837_237366843del | CA2577290090 | COL6A3 | c.4726_4732del (p.Asp1576ArgfsTer6) c.5344_5350del (p.Asp1782ArgfsTer6) c.3523_3529del (p.Asp1175ArgfsTer6) c.4744_4750del (p.Asp1582ArgfsTer6) c.4123_4129del (p.Asp1375ArgfsTer6) c.4843_4849del (p.Asp1615ArgfsTer6) c.5341_5347del (p.Asp1781ArgfsTer6) c.2938_2944del (p.Asp980ArgfsTer6) | |
2 | g.237366838C>A | CA431710970 | COL6A3 | c.4731G>T (p.Ser1577=) c.5349G>T (p.Ser1783=) c.3528G>T (p.Ser1176=) c.4749G>T (p.Ser1583=) c.4128G>T (p.Ser1376=) c.4848G>T (p.Ser1616=) c.5346G>T (p.Ser1782=) c.2943G>T (p.Ser981=) | |
2 | g.237366838C= | CA1337620912 | COL6A3 | c.4731G= (p.Ser1577=) c.5349G= (p.Ser1783=) c.3528G= (p.Ser1176=) c.4749G= (p.Ser1583=) c.4128G= (p.Ser1376=) c.4848G= (p.Ser1616=) c.5346G= (p.Ser1782=) c.2943G= (p.Ser981=) | |
2 | g.237366838C>G | CA431710971 | COL6A3 | c.4731G>C (p.Ser1577=) c.5349G>C (p.Ser1783=) c.3528G>C (p.Ser1176=) c.4749G>C (p.Ser1583=) c.4128G>C (p.Ser1376=) c.4848G>C (p.Ser1616=) c.5346G>C (p.Ser1782=) c.2943G>C (p.Ser981=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366838C>T | CA2188687 | COL6A3 | c.4731G>A (p.Ser1577=) c.5349G>A (p.Ser1783=) c.3528G>A (p.Ser1176=) c.4749G>A (p.Ser1583=) c.4128G>A (p.Ser1376=) c.4848G>A (p.Ser1616=) c.5346G>A (p.Ser1782=) c.2943G>A (p.Ser981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366839G>A | CA351187672 | COL6A3 | c.4730C>T (p.Ser1577Leu) c.5348C>T (p.Ser1783Leu) c.3527C>T (p.Ser1176Leu) c.4748C>T (p.Ser1583Leu) c.4127C>T (p.Ser1376Leu) c.4847C>T (p.Ser1616Leu) c.5345C>T (p.Ser1782Leu) c.2942C>T (p.Ser981Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366839G>C | CA351187673 | COL6A3 | c.4730C>G (p.Ser1577Trp) c.5348C>G (p.Ser1783Trp) c.3527C>G (p.Ser1176Trp) c.4748C>G (p.Ser1583Trp) c.4127C>G (p.Ser1376Trp) c.4847C>G (p.Ser1616Trp) c.5345C>G (p.Ser1782Trp) c.2942C>G (p.Ser981Trp) | |
2 | g.237366839G= | CA1337620913 | COL6A3 | c.4730C= (p.Ser1577=) c.5348C= (p.Ser1783=) c.3527C= (p.Ser1176=) c.4748C= (p.Ser1583=) c.4127C= (p.Ser1376=) c.4847C= (p.Ser1616=) c.5345C= (p.Ser1782=) c.2942C= (p.Ser981=) | |
2 | g.237366839G>T | CA351187674 | COL6A3 | c.4730C>A (p.Ser1577Ter) c.5348C>A (p.Ser1783Ter) c.3527C>A (p.Ser1176Ter) c.4748C>A (p.Ser1583Ter) c.4127C>A (p.Ser1376Ter) c.4847C>A (p.Ser1616Ter) c.5345C>A (p.Ser1782Ter) c.2942C>A (p.Ser981Ter) | |
2 | g.237366840A>C | CA351187675 | COL6A3 | c.4729T>G (p.Ser1577Ala) c.5347T>G (p.Ser1783Ala) c.3526T>G (p.Ser1176Ala) c.4747T>G (p.Ser1583Ala) c.4126T>G (p.Ser1376Ala) c.4846T>G (p.Ser1616Ala) c.5344T>G (p.Ser1782Ala) c.2941T>G (p.Ser981Ala) | COSMIC |
2 | g.237366840A>G | CA351187676 | COL6A3 | c.4729T>C (p.Ser1577Pro) c.5347T>C (p.Ser1783Pro) c.3526T>C (p.Ser1176Pro) c.4747T>C (p.Ser1583Pro) c.4126T>C (p.Ser1376Pro) c.4846T>C (p.Ser1616Pro) c.5344T>C (p.Ser1782Pro) c.2941T>C (p.Ser981Pro) | |
2 | g.237366840A>T | CA351187677 | COL6A3 | c.4729T>A (p.Ser1577Thr) c.5347T>A (p.Ser1783Thr) c.3526T>A (p.Ser1176Thr) c.4747T>A (p.Ser1583Thr) c.4126T>A (p.Ser1376Thr) c.4846T>A (p.Ser1616Thr) c.5344T>A (p.Ser1782Thr) c.2941T>A (p.Ser981Thr) | COSMIC |
2 | g.237366841G>A | CA431710977 | COL6A3 | c.4728C>T (p.Asp1576=) c.5346C>T (p.Asp1782=) c.3525C>T (p.Asp1175=) c.4746C>T (p.Asp1582=) c.4125C>T (p.Asp1375=) c.4845C>T (p.Asp1615=) c.5343C>T (p.Asp1781=) c.2940C>T (p.Asp980=) | |
2 | g.237366841G>C | CA351187678 | COL6A3 | c.4728C>G (p.Asp1576Glu) c.5346C>G (p.Asp1782Glu) c.3525C>G (p.Asp1175Glu) c.4746C>G (p.Asp1582Glu) c.4125C>G (p.Asp1375Glu) c.4845C>G (p.Asp1615Glu) c.5343C>G (p.Asp1781Glu) c.2940C>G (p.Asp980Glu) | |
2 | g.237366841G>T | CA351187679 | COL6A3 | c.4728C>A (p.Asp1576Glu) c.5346C>A (p.Asp1782Glu) c.3525C>A (p.Asp1175Glu) c.4746C>A (p.Asp1582Glu) c.4125C>A (p.Asp1375Glu) c.4845C>A (p.Asp1615Glu) c.5343C>A (p.Asp1781Glu) c.2940C>A (p.Asp980Glu) | |
2 | g.237366842T>A | CA351187680 | COL6A3 | c.4727A>T (p.Asp1576Val) c.5345A>T (p.Asp1782Val) c.3524A>T (p.Asp1175Val) c.4745A>T (p.Asp1582Val) c.4124A>T (p.Asp1375Val) c.4844A>T (p.Asp1615Val) c.5342A>T (p.Asp1781Val) c.2939A>T (p.Asp980Val) | gnomAD v4 |
2 | g.237366842T>C | CA351187681 | COL6A3 | c.4727A>G (p.Asp1576Gly) c.5345A>G (p.Asp1782Gly) c.3524A>G (p.Asp1175Gly) c.4745A>G (p.Asp1582Gly) c.4124A>G (p.Asp1375Gly) c.4844A>G (p.Asp1615Gly) c.5342A>G (p.Asp1781Gly) c.2939A>G (p.Asp980Gly) | |
2 | g.237366842T>G | CA351187682 | COL6A3 | c.4727A>C (p.Asp1576Ala) c.5345A>C (p.Asp1782Ala) c.3524A>C (p.Asp1175Ala) c.4745A>C (p.Asp1582Ala) c.4124A>C (p.Asp1375Ala) c.4844A>C (p.Asp1615Ala) c.5342A>C (p.Asp1781Ala) c.2939A>C (p.Asp980Ala) | |
2 | g.237366843C>A | CA351187683 | COL6A3 | c.4726G>T (p.Asp1576Tyr) c.5344G>T (p.Asp1782Tyr) c.3523G>T (p.Asp1175Tyr) c.4744G>T (p.Asp1582Tyr) c.4123G>T (p.Asp1375Tyr) c.4843G>T (p.Asp1615Tyr) c.5341G>T (p.Asp1781Tyr) c.2938G>T (p.Asp980Tyr) | gnomAD v4 |
2 | g.237366843C= | CA1337620914 | COL6A3 | c.4726G= (p.Asp1576=) c.5344G= (p.Asp1782=) c.3523G= (p.Asp1175=) c.4744G= (p.Asp1582=) c.4123G= (p.Asp1375=) c.4843G= (p.Asp1615=) c.5341G= (p.Asp1781=) c.2938G= (p.Asp980=) | |
2 | g.237366843C>G | CA351187684 | COL6A3 | c.4726G>C (p.Asp1576His) c.5344G>C (p.Asp1782His) c.3523G>C (p.Asp1175His) c.4744G>C (p.Asp1582His) c.4123G>C (p.Asp1375His) c.4843G>C (p.Asp1615His) c.5341G>C (p.Asp1781His) c.2938G>C (p.Asp980His) | |
2 | g.237366843C>T | CA2188688 | COL6A3 | c.4726G>A (p.Asp1576Asn) c.5344G>A (p.Asp1782Asn) c.3523G>A (p.Asp1175Asn) c.4744G>A (p.Asp1582Asn) c.4123G>A (p.Asp1375Asn) c.4843G>A (p.Asp1615Asn) c.5341G>A (p.Asp1781Asn) c.2938G>A (p.Asp980Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366844G>A | CA2188689 | COL6A3 | c.4725C>T (p.Ile1575=) c.5343C>T (p.Ile1781=) c.3522C>T (p.Ile1174=) c.4743C>T (p.Ile1581=) c.4122C>T (p.Ile1374=) c.4842C>T (p.Ile1614=) c.5340C>T (p.Ile1780=) c.2937C>T (p.Ile979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366844G>C | CA351187685 | COL6A3 | c.4725C>G (p.Ile1575Met) c.5343C>G (p.Ile1781Met) c.3522C>G (p.Ile1174Met) c.4743C>G (p.Ile1581Met) c.4122C>G (p.Ile1374Met) c.4842C>G (p.Ile1614Met) c.5340C>G (p.Ile1780Met) c.2937C>G (p.Ile979Met) | |
2 | g.237366844G= | CA1337620915 | COL6A3 | c.4725C= (p.Ile1575=) c.5343C= (p.Ile1781=) c.3522C= (p.Ile1174=) c.4743C= (p.Ile1581=) c.4122C= (p.Ile1374=) c.4842C= (p.Ile1614=) c.5340C= (p.Ile1780=) c.2937C= (p.Ile979=) | |
2 | g.237366844G>T | CA431710981 | COL6A3 | c.4725C>A (p.Ile1575=) c.5343C>A (p.Ile1781=) c.3522C>A (p.Ile1174=) c.4743C>A (p.Ile1581=) c.4122C>A (p.Ile1374=) c.4842C>A (p.Ile1614=) c.5340C>A (p.Ile1780=) c.2937C>A (p.Ile979=) | ClinVar gnomAD v4 |
2 | g.237366845A= | CA1337620916 | COL6A3 | c.4724T= (p.Ile1575=) c.5342T= (p.Ile1781=) c.3521T= (p.Ile1174=) c.4742T= (p.Ile1581=) c.4121T= (p.Ile1374=) c.4841T= (p.Ile1614=) c.5339T= (p.Ile1780=) c.2936T= (p.Ile979=) | |
2 | g.237366845A>C | CA351187686 | COL6A3 | c.4724T>G (p.Ile1575Ser) c.5342T>G (p.Ile1781Ser) c.3521T>G (p.Ile1174Ser) c.4742T>G (p.Ile1581Ser) c.4121T>G (p.Ile1374Ser) c.4841T>G (p.Ile1614Ser) c.5339T>G (p.Ile1780Ser) c.2936T>G (p.Ile979Ser) | |
2 | g.237366845A>G | CA67814277 | COL6A3 | c.4724T>C (p.Ile1575Thr) c.5342T>C (p.Ile1781Thr) c.3521T>C (p.Ile1174Thr) c.4742T>C (p.Ile1581Thr) c.4121T>C (p.Ile1374Thr) c.4841T>C (p.Ile1614Thr) c.5339T>C (p.Ile1780Thr) c.2936T>C (p.Ile979Thr) | dbSNP |
2 | g.237366845A>T | CA351187687 | COL6A3 | c.4724T>A (p.Ile1575Asn) c.5342T>A (p.Ile1781Asn) c.3521T>A (p.Ile1174Asn) c.4742T>A (p.Ile1581Asn) c.4121T>A (p.Ile1374Asn) c.4841T>A (p.Ile1614Asn) c.5339T>A (p.Ile1780Asn) c.2936T>A (p.Ile979Asn) | |
2 | g.237366846T>A | CA351187688 | COL6A3 | c.4723A>T (p.Ile1575Phe) c.5341A>T (p.Ile1781Phe) c.3520A>T (p.Ile1174Phe) c.4741A>T (p.Ile1581Phe) c.4120A>T (p.Ile1374Phe) c.4840A>T (p.Ile1614Phe) c.5338A>T (p.Ile1780Phe) c.2935A>T (p.Ile979Phe) | |
2 | g.237366846T>C | CA239566 | COL6A3 | c.4723A>G (p.Ile1575Val) c.5341A>G (p.Ile1781Val) c.3520A>G (p.Ile1174Val) c.4741A>G (p.Ile1581Val) c.4120A>G (p.Ile1374Val) c.4840A>G (p.Ile1614Val) c.5338A>G (p.Ile1780Val) c.2935A>G (p.Ile979Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366846T>G | CA351187689 | COL6A3 | c.4723A>C (p.Ile1575Leu) c.5341A>C (p.Ile1781Leu) c.3520A>C (p.Ile1174Leu) c.4741A>C (p.Ile1581Leu) c.4120A>C (p.Ile1374Leu) c.4840A>C (p.Ile1614Leu) c.5338A>C (p.Ile1780Leu) c.2935A>C (p.Ile979Leu) | |
2 | g.237366846T= | CA1337620917 | COL6A3 | c.4723A= (p.Ile1575=) c.5341A= (p.Ile1781=) c.3520A= (p.Ile1174=) c.4741A= (p.Ile1581=) c.4120A= (p.Ile1374=) c.4840A= (p.Ile1614=) c.5338A= (p.Ile1780=) c.2935A= (p.Ile979=) | |
2 | g.237366847A>C | CA351187690 | COL6A3 | c.4722T>G (p.Asn1574Lys) c.5340T>G (p.Asn1780Lys) c.3519T>G (p.Asn1173Lys) c.4740T>G (p.Asn1580Lys) c.4119T>G (p.Asn1373Lys) c.4839T>G (p.Asn1613Lys) c.5337T>G (p.Asn1779Lys) c.2934T>G (p.Asn978Lys) | |
2 | g.237366847A>G | CA431710985 | COL6A3 | c.4722T>C (p.Asn1574=) c.5340T>C (p.Asn1780=) c.3519T>C (p.Asn1173=) c.4740T>C (p.Asn1580=) c.4119T>C (p.Asn1373=) c.4839T>C (p.Asn1613=) c.5337T>C (p.Asn1779=) c.2934T>C (p.Asn978=) | gnomAD v4 |
2 | g.237366847A>T | CA351187691 | COL6A3 | c.4722T>A (p.Asn1574Lys) c.5340T>A (p.Asn1780Lys) c.3519T>A (p.Asn1173Lys) c.4740T>A (p.Asn1580Lys) c.4119T>A (p.Asn1373Lys) c.4839T>A (p.Asn1613Lys) c.5337T>A (p.Asn1779Lys) c.2934T>A (p.Asn978Lys) | |
2 | g.237366848T>A | CA351187692 | COL6A3 | c.4721A>T (p.Asn1574Ile) c.5339A>T (p.Asn1780Ile) c.3518A>T (p.Asn1173Ile) c.4739A>T (p.Asn1580Ile) c.4118A>T (p.Asn1373Ile) c.4838A>T (p.Asn1613Ile) c.5336A>T (p.Asn1779Ile) c.2933A>T (p.Asn978Ile) | |
2 | g.237366848T>C | CA67814314 | COL6A3 | c.4721A>G (p.Asn1574Ser) c.5339A>G (p.Asn1780Ser) c.3518A>G (p.Asn1173Ser) c.4739A>G (p.Asn1580Ser) c.4118A>G (p.Asn1373Ser) c.4838A>G (p.Asn1613Ser) c.5336A>G (p.Asn1779Ser) c.2933A>G (p.Asn978Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366848T>G | CA351187693 | COL6A3 | c.4721A>C (p.Asn1574Thr) c.5339A>C (p.Asn1780Thr) c.3518A>C (p.Asn1173Thr) c.4739A>C (p.Asn1580Thr) c.4118A>C (p.Asn1373Thr) c.4838A>C (p.Asn1613Thr) c.5336A>C (p.Asn1779Thr) c.2933A>C (p.Asn978Thr) | gnomAD v4 |
2 | g.237366848T= | CA1337620918 | COL6A3 | c.4721A= (p.Asn1574=) c.5339A= (p.Asn1780=) c.3518A= (p.Asn1173=) c.4739A= (p.Asn1580=) c.4118A= (p.Asn1373=) c.4838A= (p.Asn1613=) c.5336A= (p.Asn1779=) c.2933A= (p.Asn978=) | |
2 | g.237366849T>A | CA351187694 | COL6A3 | c.4720A>T (p.Asn1574Tyr) c.5338A>T (p.Asn1780Tyr) c.3517A>T (p.Asn1173Tyr) c.4738A>T (p.Asn1580Tyr) c.4117A>T (p.Asn1373Tyr) c.4837A>T (p.Asn1613Tyr) c.5335A>T (p.Asn1779Tyr) c.2932A>T (p.Asn978Tyr) | |
2 | g.237366849T>C | CA351187695 | COL6A3 | c.4720A>G (p.Asn1574Asp) c.5338A>G (p.Asn1780Asp) c.3517A>G (p.Asn1173Asp) c.4738A>G (p.Asn1580Asp) c.4117A>G (p.Asn1373Asp) c.4837A>G (p.Asn1613Asp) c.5335A>G (p.Asn1779Asp) c.2932A>G (p.Asn978Asp) | |
2 | g.237366849T>G | CA351187696 | COL6A3 | c.4720A>C (p.Asn1574His) c.5338A>C (p.Asn1780His) c.3517A>C (p.Asn1173His) c.4738A>C (p.Asn1580His) c.4117A>C (p.Asn1373His) c.4837A>C (p.Asn1613His) c.5335A>C (p.Asn1779His) c.2932A>C (p.Asn978His) | |
2 | g.237366850C>A | CA351187697 | COL6A3 | c.4719G>T (p.Arg1573Ser) c.5337G>T (p.Arg1779Ser) c.3516G>T (p.Arg1172Ser) c.4737G>T (p.Arg1579Ser) c.4116G>T (p.Arg1372Ser) c.4836G>T (p.Arg1612Ser) c.5334G>T (p.Arg1778Ser) c.2931G>T (p.Arg977Ser) | |
2 | g.237366850C= | CA1337620919 | COL6A3 | c.4719G= (p.Arg1573=) c.5337G= (p.Arg1779=) c.3516G= (p.Arg1172=) c.4737G= (p.Arg1579=) c.4116G= (p.Arg1372=) c.4836G= (p.Arg1612=) c.5334G= (p.Arg1778=) c.2931G= (p.Arg977=) | |
2 | g.237366850C>G | CA351187698 | COL6A3 | c.4719G>C (p.Arg1573Ser) c.5337G>C (p.Arg1779Ser) c.3516G>C (p.Arg1172Ser) c.4737G>C (p.Arg1579Ser) c.4116G>C (p.Arg1372Ser) c.4836G>C (p.Arg1612Ser) c.5334G>C (p.Arg1778Ser) c.2931G>C (p.Arg977Ser) | |
2 | g.237366850C>T | CA2188690 | COL6A3 | c.4719G>A (p.Arg1573=) c.5337G>A (p.Arg1779=) c.3516G>A (p.Arg1172=) c.4737G>A (p.Arg1579=) c.4116G>A (p.Arg1372=) c.4836G>A (p.Arg1612=) c.5334G>A (p.Arg1778=) c.2931G>A (p.Arg977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237366851C>A | CA351187699 | COL6A3 | c.4718G>T (p.Arg1573Met) c.5336G>T (p.Arg1779Met) c.3515G>T (p.Arg1172Met) c.4736G>T (p.Arg1579Met) c.4115G>T (p.Arg1372Met) c.4835G>T (p.Arg1612Met) c.5333G>T (p.Arg1778Met) c.2930G>T (p.Arg977Met) | |
2 | g.237366851C= | CA1337620920 | COL6A3 | c.4718G= (p.Arg1573=) c.5336G= (p.Arg1779=) c.3515G= (p.Arg1172=) c.4736G= (p.Arg1579=) c.4115G= (p.Arg1372=) c.4835G= (p.Arg1612=) c.5333G= (p.Arg1778=) c.2930G= (p.Arg977=) | |
2 | g.237366851C>G | CA2188691 | COL6A3 | c.4718G>C (p.Arg1573Thr) c.5336G>C (p.Arg1779Thr) c.3515G>C (p.Arg1172Thr) c.4736G>C (p.Arg1579Thr) c.4115G>C (p.Arg1372Thr) c.4835G>C (p.Arg1612Thr) c.5333G>C (p.Arg1778Thr) c.2930G>C (p.Arg977Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366851C>T | CA351187700 | COL6A3 | c.4718G>A (p.Arg1573Lys) c.5336G>A (p.Arg1779Lys) c.3515G>A (p.Arg1172Lys) c.4736G>A (p.Arg1579Lys) c.4115G>A (p.Arg1372Lys) c.4835G>A (p.Arg1612Lys) c.5333G>A (p.Arg1778Lys) c.2930G>A (p.Arg977Lys) | |
2 | g.237366852T>A | CA351187701 | COL6A3 | c.4717A>T (p.Arg1573Trp) c.5335A>T (p.Arg1779Trp) c.3514A>T (p.Arg1172Trp) c.4735A>T (p.Arg1579Trp) c.4114A>T (p.Arg1372Trp) c.4834A>T (p.Arg1612Trp) c.5332A>T (p.Arg1778Trp) c.2929A>T (p.Arg977Trp) | |
2 | g.237366852T>C | CA351187702 | COL6A3 | c.4717A>G (p.Arg1573Gly) c.5335A>G (p.Arg1779Gly) c.3514A>G (p.Arg1172Gly) c.4735A>G (p.Arg1579Gly) c.4114A>G (p.Arg1372Gly) c.4834A>G (p.Arg1612Gly) c.5332A>G (p.Arg1778Gly) c.2929A>G (p.Arg977Gly) | |
2 | g.237366852T>G | CA431710996 | COL6A3 | c.4717A>C (p.Arg1573=) c.5335A>C (p.Arg1779=) c.3514A>C (p.Arg1172=) c.4735A>C (p.Arg1579=) c.4114A>C (p.Arg1372=) c.4834A>C (p.Arg1612=) c.5332A>C (p.Arg1778=) c.2929A>C (p.Arg977=) | |
2 | g.237366853C>A | CA2188692 | COL6A3 | c.4716G>T (p.Val1572=) c.5334G>T (p.Val1778=) c.3513G>T (p.Val1171=) c.4734G>T (p.Val1578=) c.4113G>T (p.Val1371=) c.4833G>T (p.Val1611=) c.5331G>T (p.Val1777=) c.2928G>T (p.Val976=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.237366853C= | CA1337620921 | COL6A3 | c.4716G= (p.Val1572=) c.5334G= (p.Val1778=) c.3513G= (p.Val1171=) c.4734G= (p.Val1578=) c.4113G= (p.Val1371=) c.4833G= (p.Val1611=) c.5331G= (p.Val1777=) c.2928G= (p.Val976=) | |
2 | g.237366853C>G | CA431711001 | COL6A3 | c.4716G>C (p.Val1572=) c.5334G>C (p.Val1778=) c.3513G>C (p.Val1171=) c.4734G>C (p.Val1578=) c.4113G>C (p.Val1371=) c.4833G>C (p.Val1611=) c.5331G>C (p.Val1777=) c.2928G>C (p.Val976=) | |
2 | g.237366853C>T | CA431711002 | COL6A3 | c.4716G>A (p.Val1572=) c.5334G>A (p.Val1778=) c.3513G>A (p.Val1171=) c.4734G>A (p.Val1578=) c.4113G>A (p.Val1371=) c.4833G>A (p.Val1611=) c.5331G>A (p.Val1777=) c.2928G>A (p.Val976=) | |
2 | g.237366854A= | CA1337620922 | COL6A3 | c.4715T= (p.Val1572=) c.5333T= (p.Val1778=) c.3512T= (p.Val1171=) c.4733T= (p.Val1578=) c.4112T= (p.Val1371=) c.4832T= (p.Val1611=) c.5330T= (p.Val1777=) c.2927T= (p.Val976=) | |
2 | g.237366854A>C | CA351187703 | COL6A3 | c.4715T>G (p.Val1572Gly) c.5333T>G (p.Val1778Gly) c.3512T>G (p.Val1171Gly) c.4733T>G (p.Val1578Gly) c.4112T>G (p.Val1371Gly) c.4832T>G (p.Val1611Gly) c.5330T>G (p.Val1777Gly) c.2927T>G (p.Val976Gly) | gnomAD v4 |
2 | g.237366854A>G | CA351187704 | COL6A3 | c.4715T>C (p.Val1572Ala) c.5333T>C (p.Val1778Ala) c.3512T>C (p.Val1171Ala) c.4733T>C (p.Val1578Ala) c.4112T>C (p.Val1371Ala) c.4832T>C (p.Val1611Ala) c.5330T>C (p.Val1777Ala) c.2927T>C (p.Val976Ala) | |
2 | g.237366854A>T | CA351187705 | COL6A3 | c.4715T>A (p.Val1572Glu) c.5333T>A (p.Val1778Glu) c.3512T>A (p.Val1171Glu) c.4733T>A (p.Val1578Glu) c.4112T>A (p.Val1371Glu) c.4832T>A (p.Val1611Glu) c.5330T>A (p.Val1777Glu) c.2927T>A (p.Val976Glu) | dbSNP gnomAD v4 |
2 | g.237366855C>A | CA351187706 | COL6A3 | c.4714G>T (p.Val1572Leu) c.5332G>T (p.Val1778Leu) c.3511G>T (p.Val1171Leu) c.4732G>T (p.Val1578Leu) c.4111G>T (p.Val1371Leu) c.4831G>T (p.Val1611Leu) c.5329G>T (p.Val1777Leu) c.2926G>T (p.Val976Leu) | |
2 | g.237366855C= | CA1337620923 | COL6A3 | c.4714G= (p.Val1572=) c.5332G= (p.Val1778=) c.3511G= (p.Val1171=) c.4732G= (p.Val1578=) c.4111G= (p.Val1371=) c.4831G= (p.Val1611=) c.5329G= (p.Val1777=) c.2926G= (p.Val976=) | |
2 | g.237366855C>G | CA351187707 | COL6A3 | c.4714G>C (p.Val1572Leu) c.5332G>C (p.Val1778Leu) c.3511G>C (p.Val1171Leu) c.4732G>C (p.Val1578Leu) c.4111G>C (p.Val1371Leu) c.4831G>C (p.Val1611Leu) c.5329G>C (p.Val1777Leu) c.2926G>C (p.Val976Leu) | |
2 | g.237366855C>T | CA351187708 | COL6A3 | c.4714G>A (p.Val1572Met) c.5332G>A (p.Val1778Met) c.3511G>A (p.Val1171Met) c.4732G>A (p.Val1578Met) c.4111G>A (p.Val1371Met) c.4831G>A (p.Val1611Met) c.5329G>A (p.Val1777Met) c.2926G>A (p.Val976Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366856T>A | CA431711005 | COL6A3 | c.4713A>T (p.Gly1571=) c.5331A>T (p.Gly1777=) c.3510A>T (p.Gly1170=) c.4731A>T (p.Gly1577=) c.4110A>T (p.Gly1370=) c.4830A>T (p.Gly1610=) c.5328A>T (p.Gly1776=) c.2925A>T (p.Gly975=) | |
2 | g.237366856T>C | CA431711006 | COL6A3 | c.4713A>G (p.Gly1571=) c.5331A>G (p.Gly1777=) c.3510A>G (p.Gly1170=) c.4731A>G (p.Gly1577=) c.4110A>G (p.Gly1370=) c.4830A>G (p.Gly1610=) c.5328A>G (p.Gly1776=) c.2925A>G (p.Gly975=) | |
2 | g.237366856T>G | CA431711007 | COL6A3 | c.4713A>C (p.Gly1571=) c.5331A>C (p.Gly1777=) c.3510A>C (p.Gly1170=) c.4731A>C (p.Gly1577=) c.4110A>C (p.Gly1370=) c.4830A>C (p.Gly1610=) c.5328A>C (p.Gly1776=) c.2925A>C (p.Gly975=) | |
2 | g.237366857C>A | CA351187709 | COL6A3 | c.4712G>T (p.Gly1571Val) c.5330G>T (p.Gly1777Val) c.3509G>T (p.Gly1170Val) c.4730G>T (p.Gly1577Val) c.4109G>T (p.Gly1370Val) c.4829G>T (p.Gly1610Val) c.5327G>T (p.Gly1776Val) c.2924G>T (p.Gly975Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366857C= | CA1337620924 | COL6A3 | c.4712G= (p.Gly1571=) c.5330G= (p.Gly1777=) c.3509G= (p.Gly1170=) c.4730G= (p.Gly1577=) c.4109G= (p.Gly1370=) c.4829G= (p.Gly1610=) c.5327G= (p.Gly1776=) c.2924G= (p.Gly975=) | |
2 | g.237366857C>G | CA351187710 | COL6A3 | c.4712G>C (p.Gly1571Ala) c.5330G>C (p.Gly1777Ala) c.3509G>C (p.Gly1170Ala) c.4730G>C (p.Gly1577Ala) c.4109G>C (p.Gly1370Ala) c.4829G>C (p.Gly1610Ala) c.5327G>C (p.Gly1776Ala) c.2924G>C (p.Gly975Ala) | |
2 | g.237366857C>T | CA351187711 | COL6A3 | c.4712G>A (p.Gly1571Glu) c.5330G>A (p.Gly1777Glu) c.3509G>A (p.Gly1170Glu) c.4730G>A (p.Gly1577Glu) c.4109G>A (p.Gly1370Glu) c.4829G>A (p.Gly1610Glu) c.5327G>A (p.Gly1776Glu) c.2924G>A (p.Gly975Glu) | ClinVar |
2 | g.237366858C>A | CA351187714 | COL6A3 | c.4711G>T (p.Gly1571Ter) c.5329G>T (p.Gly1777Ter) c.3508G>T (p.Gly1170Ter) c.4729G>T (p.Gly1577Ter) c.4108G>T (p.Gly1370Ter) c.4828G>T (p.Gly1610Ter) c.5326G>T (p.Gly1776Ter) c.2923G>T (p.Gly975Ter) | gnomAD v4 |
2 | g.237366858C>G | CA351187712 | COL6A3 | c.4711G>C (p.Gly1571Arg) c.5329G>C (p.Gly1777Arg) c.3508G>C (p.Gly1170Arg) c.4729G>C (p.Gly1577Arg) c.4108G>C (p.Gly1370Arg) c.4828G>C (p.Gly1610Arg) c.5326G>C (p.Gly1776Arg) c.2923G>C (p.Gly975Arg) | |
2 | g.237366858C>T | CA351187713 | COL6A3 | c.4711G>A (p.Gly1571Arg) c.5329G>A (p.Gly1777Arg) c.3508G>A (p.Gly1170Arg) c.4729G>A (p.Gly1577Arg) c.4108G>A (p.Gly1370Arg) c.4828G>A (p.Gly1610Arg) c.5326G>A (p.Gly1776Arg) c.2923G>A (p.Gly975Arg) | gnomAD v4 |
2 | g.237366859A>C | CA431711016 | COL6A3 | c.4710T>G (p.Val1570=) c.5328T>G (p.Val1776=) c.3507T>G (p.Val1169=) c.4728T>G (p.Val1576=) c.4107T>G (p.Val1369=) c.4827T>G (p.Val1609=) c.5325T>G (p.Val1775=) c.2922T>G (p.Val974=) | |
2 | g.237366859A>G | CA431711012 | COL6A3 | c.4710T>C (p.Val1570=) c.5328T>C (p.Val1776=) c.3507T>C (p.Val1169=) c.4728T>C (p.Val1576=) c.4107T>C (p.Val1369=) c.4827T>C (p.Val1609=) c.5325T>C (p.Val1775=) c.2922T>C (p.Val974=) | |
2 | g.237366859A>T | CA431711014 | COL6A3 | c.4710T>A (p.Val1570=) c.5328T>A (p.Val1776=) c.3507T>A (p.Val1169=) c.4728T>A (p.Val1576=) c.4107T>A (p.Val1369=) c.4827T>A (p.Val1609=) c.5325T>A (p.Val1775=) c.2922T>A (p.Val974=) | |
2 | g.237366860A= | CA1337620925 | COL6A3 | c.4709T= (p.Val1570=) c.5327T= (p.Val1776=) c.3506T= (p.Val1169=) c.4727T= (p.Val1576=) c.4106T= (p.Val1369=) c.4826T= (p.Val1609=) c.5324T= (p.Val1775=) c.2921T= (p.Val974=) | |
2 | g.237366860A>C | CA351187715 | COL6A3 | c.4709T>G (p.Val1570Gly) c.5327T>G (p.Val1776Gly) c.3506T>G (p.Val1169Gly) c.4727T>G (p.Val1576Gly) c.4106T>G (p.Val1369Gly) c.4826T>G (p.Val1609Gly) c.5324T>G (p.Val1775Gly) c.2921T>G (p.Val974Gly) | |
2 | g.237366860A>G | CA351187716 | COL6A3 | c.4709T>C (p.Val1570Ala) c.5327T>C (p.Val1776Ala) c.3506T>C (p.Val1169Ala) c.4727T>C (p.Val1576Ala) c.4106T>C (p.Val1369Ala) c.4826T>C (p.Val1609Ala) c.5324T>C (p.Val1775Ala) c.2921T>C (p.Val974Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366860A>T | CA351187717 | COL6A3 | c.4709T>A (p.Val1570Asp) c.5327T>A (p.Val1776Asp) c.3506T>A (p.Val1169Asp) c.4727T>A (p.Val1576Asp) c.4106T>A (p.Val1369Asp) c.4826T>A (p.Val1609Asp) c.5324T>A (p.Val1775Asp) c.2921T>A (p.Val974Asp) | |
2 | g.237366861C>A | CA2188693 | COL6A3 | c.4708G>T (p.Val1570Phe) c.5326G>T (p.Val1776Phe) c.3505G>T (p.Val1169Phe) c.4726G>T (p.Val1576Phe) c.4105G>T (p.Val1369Phe) c.4825G>T (p.Val1609Phe) c.5323G>T (p.Val1775Phe) c.2920G>T (p.Val974Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366861C= | CA1337620926 | COL6A3 | c.4708G= (p.Val1570=) c.5326G= (p.Val1776=) c.3505G= (p.Val1169=) c.4726G= (p.Val1576=) c.4105G= (p.Val1369=) c.4825G= (p.Val1609=) c.5323G= (p.Val1775=) c.2920G= (p.Val974=) | |
2 | g.237366861C>G | CA351187718 | COL6A3 | c.4708G>C (p.Val1570Leu) c.5326G>C (p.Val1776Leu) c.3505G>C (p.Val1169Leu) c.4726G>C (p.Val1576Leu) c.4105G>C (p.Val1369Leu) c.4825G>C (p.Val1609Leu) c.5323G>C (p.Val1775Leu) c.2920G>C (p.Val974Leu) | |
2 | g.237366861C>T | CA351187719 | COL6A3 | c.4708G>A (p.Val1570Ile) c.5326G>A (p.Val1776Ile) c.3505G>A (p.Val1169Ile) c.4726G>A (p.Val1576Ile) c.4105G>A (p.Val1369Ile) c.4825G>A (p.Val1609Ile) c.5323G>A (p.Val1775Ile) c.2920G>A (p.Val974Ile) | |
2 | g.237366862A>C | CA431711023 | COL6A3 | c.4707T>G (p.Ala1569=) c.5325T>G (p.Ala1775=) c.3504T>G (p.Ala1168=) c.4725T>G (p.Ala1575=) c.4104T>G (p.Ala1368=) c.4824T>G (p.Ala1608=) c.5322T>G (p.Ala1774=) c.2919T>G (p.Ala973=) | |
2 | g.237366862A>G | CA431711024 | COL6A3 | c.4707T>C (p.Ala1569=) c.5325T>C (p.Ala1775=) c.3504T>C (p.Ala1168=) c.4725T>C (p.Ala1575=) c.4104T>C (p.Ala1368=) c.4824T>C (p.Ala1608=) c.5322T>C (p.Ala1774=) c.2919T>C (p.Ala973=) | gnomAD v4 |
2 | g.237366862A>T | CA431711025 | COL6A3 | c.4707T>A (p.Ala1569=) c.5325T>A (p.Ala1775=) c.3504T>A (p.Ala1168=) c.4725T>A (p.Ala1575=) c.4104T>A (p.Ala1368=) c.4824T>A (p.Ala1608=) c.5322T>A (p.Ala1774=) c.2919T>A (p.Ala973=) | |
2 | g.237366863G>A | CA351187720 | COL6A3 | c.4706C>T (p.Ala1569Val) c.5324C>T (p.Ala1775Val) c.3503C>T (p.Ala1168Val) c.4724C>T (p.Ala1575Val) c.4103C>T (p.Ala1368Val) c.4823C>T (p.Ala1608Val) c.5321C>T (p.Ala1774Val) c.2918C>T (p.Ala973Val) | |
2 | g.237366863G>C | CA351187721 | COL6A3 | c.4706C>G (p.Ala1569Gly) c.5324C>G (p.Ala1775Gly) c.3503C>G (p.Ala1168Gly) c.4724C>G (p.Ala1575Gly) c.4103C>G (p.Ala1368Gly) c.4823C>G (p.Ala1608Gly) c.5321C>G (p.Ala1774Gly) c.2918C>G (p.Ala973Gly) | |
2 | g.237366863G>T | CA351187722 | COL6A3 | c.4706C>A (p.Ala1569Asp) c.5324C>A (p.Ala1775Asp) c.3503C>A (p.Ala1168Asp) c.4724C>A (p.Ala1575Asp) c.4103C>A (p.Ala1368Asp) c.4823C>A (p.Ala1608Asp) c.5321C>A (p.Ala1774Asp) c.2918C>A (p.Ala973Asp) | |
2 | g.237366864C>A | CA351187723 | COL6A3 | c.4705G>T (p.Ala1569Ser) c.5323G>T (p.Ala1775Ser) c.3502G>T (p.Ala1168Ser) c.4723G>T (p.Ala1575Ser) c.4102G>T (p.Ala1368Ser) c.4822G>T (p.Ala1608Ser) c.5320G>T (p.Ala1774Ser) c.2917G>T (p.Ala973Ser) | |
2 | g.237366864C= | CA1337620927 | COL6A3 | c.4705G= (p.Ala1569=) c.5323G= (p.Ala1775=) c.3502G= (p.Ala1168=) c.4723G= (p.Ala1575=) c.4102G= (p.Ala1368=) c.4822G= (p.Ala1608=) c.5320G= (p.Ala1774=) c.2917G= (p.Ala973=) | |
2 | g.237366864C>G | CA2188694 | COL6A3 | c.4705G>C (p.Ala1569Pro) c.5323G>C (p.Ala1775Pro) c.3502G>C (p.Ala1168Pro) c.4723G>C (p.Ala1575Pro) c.4102G>C (p.Ala1368Pro) c.4822G>C (p.Ala1608Pro) c.5320G>C (p.Ala1774Pro) c.2917G>C (p.Ala973Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366864C>T | CA351187724 | COL6A3 | c.4705G>A (p.Ala1569Thr) c.5323G>A (p.Ala1775Thr) c.3502G>A (p.Ala1168Thr) c.4723G>A (p.Ala1575Thr) c.4102G>A (p.Ala1368Thr) c.4822G>A (p.Ala1608Thr) c.5320G>A (p.Ala1774Thr) c.2917G>A (p.Ala973Thr) | |
2 | g.237366865A>C | CA351187725 | COL6A3 | c.4704T>G (p.Phe1568Leu) c.5322T>G (p.Phe1774Leu) c.3501T>G (p.Phe1167Leu) c.4722T>G (p.Phe1574Leu) c.4101T>G (p.Phe1367Leu) c.4821T>G (p.Phe1607Leu) c.5319T>G (p.Phe1773Leu) c.2916T>G (p.Phe972Leu) | |
2 | g.237366865A>G | CA431711030 | COL6A3 | c.4704T>C (p.Phe1568=) c.5322T>C (p.Phe1774=) c.3501T>C (p.Phe1167=) c.4722T>C (p.Phe1574=) c.4101T>C (p.Phe1367=) c.4821T>C (p.Phe1607=) c.5319T>C (p.Phe1773=) c.2916T>C (p.Phe972=) | |
2 | g.237366865A>T | CA351187726 | COL6A3 | c.4704T>A (p.Phe1568Leu) c.5322T>A (p.Phe1774Leu) c.3501T>A (p.Phe1167Leu) c.4722T>A (p.Phe1574Leu) c.4101T>A (p.Phe1367Leu) c.4821T>A (p.Phe1607Leu) c.5319T>A (p.Phe1773Leu) c.2916T>A (p.Phe972Leu) | |
2 | g.237366866A>C | CA351187727 | COL6A3 | c.4703T>G (p.Phe1568Cys) c.5321T>G (p.Phe1774Cys) c.3500T>G (p.Phe1167Cys) c.4721T>G (p.Phe1574Cys) c.4100T>G (p.Phe1367Cys) c.4820T>G (p.Phe1607Cys) c.5318T>G (p.Phe1773Cys) c.2915T>G (p.Phe972Cys) | |
2 | g.237366866A>G | CA351187728 | COL6A3 | c.4703T>C (p.Phe1568Ser) c.5321T>C (p.Phe1774Ser) c.3500T>C (p.Phe1167Ser) c.4721T>C (p.Phe1574Ser) c.4100T>C (p.Phe1367Ser) c.4820T>C (p.Phe1607Ser) c.5318T>C (p.Phe1773Ser) c.2915T>C (p.Phe972Ser) | |
2 | g.237366866A>T | CA351187729 | COL6A3 | c.4703T>A (p.Phe1568Tyr) c.5321T>A (p.Phe1774Tyr) c.3500T>A (p.Phe1167Tyr) c.4721T>A (p.Phe1574Tyr) c.4100T>A (p.Phe1367Tyr) c.4820T>A (p.Phe1607Tyr) c.5318T>A (p.Phe1773Tyr) c.2915T>A (p.Phe972Tyr) | |
2 | g.237366867A>C | CA351187730 | COL6A3 | c.4702T>G (p.Phe1568Val) c.5320T>G (p.Phe1774Val) c.3499T>G (p.Phe1167Val) c.4720T>G (p.Phe1574Val) c.4099T>G (p.Phe1367Val) c.4819T>G (p.Phe1607Val) c.5317T>G (p.Phe1773Val) c.2914T>G (p.Phe972Val) | |
2 | g.237366867A>G | CA351187731 | COL6A3 | c.4702T>C (p.Phe1568Leu) c.5320T>C (p.Phe1774Leu) c.3499T>C (p.Phe1167Leu) c.4720T>C (p.Phe1574Leu) c.4099T>C (p.Phe1367Leu) c.4819T>C (p.Phe1607Leu) c.5317T>C (p.Phe1773Leu) c.2914T>C (p.Phe972Leu) | |
2 | g.237366867A>T | CA351187732 | COL6A3 | c.4702T>A (p.Phe1568Ile) c.5320T>A (p.Phe1774Ile) c.3499T>A (p.Phe1167Ile) c.4720T>A (p.Phe1574Ile) c.4099T>A (p.Phe1367Ile) c.4819T>A (p.Phe1607Ile) c.5317T>A (p.Phe1773Ile) c.2914T>A (p.Phe972Ile) | |
2 | g.237366868C>A | CA431711034 | COL6A3 | c.4701G>T (p.Val1567=) c.5319G>T (p.Val1773=) c.3498G>T (p.Val1166=) c.4719G>T (p.Val1573=) c.4098G>T (p.Val1366=) c.4818G>T (p.Val1606=) c.5316G>T (p.Val1772=) c.2913G>T (p.Val971=) | |
2 | g.237366868C= | CA1337620928 | COL6A3 | c.4701G= (p.Val1567=) c.5319G= (p.Val1773=) c.3498G= (p.Val1166=) c.4719G= (p.Val1573=) c.4098G= (p.Val1366=) c.4818G= (p.Val1606=) c.5316G= (p.Val1772=) c.2913G= (p.Val971=) | |
2 | g.237366868C>G | CA431711035 | COL6A3 | c.4701G>C (p.Val1567=) c.5319G>C (p.Val1773=) c.3498G>C (p.Val1166=) c.4719G>C (p.Val1573=) c.4098G>C (p.Val1366=) c.4818G>C (p.Val1606=) c.5316G>C (p.Val1772=) c.2913G>C (p.Val971=) | |
2 | g.237366868C>T | CA2188695 | COL6A3 | c.4701G>A (p.Val1567=) c.5319G>A (p.Val1773=) c.3498G>A (p.Val1166=) c.4719G>A (p.Val1573=) c.4098G>A (p.Val1366=) c.4818G>A (p.Val1606=) c.5316G>A (p.Val1772=) c.2913G>A (p.Val971=) | dbSNP ExAC gnomAD v2 |
2 | g.237366869A= | CA1337620929 | COL6A3 | c.4700T= (p.Val1567=) c.5318T= (p.Val1773=) c.3497T= (p.Val1166=) c.4718T= (p.Val1573=) c.4097T= (p.Val1366=) c.4817T= (p.Val1606=) c.5315T= (p.Val1772=) c.2912T= (p.Val971=) | |
2 | g.237366869A>C | CA351187733 | COL6A3 | c.4700T>G (p.Val1567Gly) c.5318T>G (p.Val1773Gly) c.3497T>G (p.Val1166Gly) c.4718T>G (p.Val1573Gly) c.4097T>G (p.Val1366Gly) c.4817T>G (p.Val1606Gly) c.5315T>G (p.Val1772Gly) c.2912T>G (p.Val971Gly) | |
2 | g.237366869A>G | CA2188696 | COL6A3 | c.4700T>C (p.Val1567Ala) c.5318T>C (p.Val1773Ala) c.3497T>C (p.Val1166Ala) c.4718T>C (p.Val1573Ala) c.4097T>C (p.Val1366Ala) c.4817T>C (p.Val1606Ala) c.5315T>C (p.Val1772Ala) c.2912T>C (p.Val971Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366869A>T | CA351187734 | COL6A3 | c.4700T>A (p.Val1567Glu) c.5318T>A (p.Val1773Glu) c.3497T>A (p.Val1166Glu) c.4718T>A (p.Val1573Glu) c.4097T>A (p.Val1366Glu) c.4817T>A (p.Val1606Glu) c.5315T>A (p.Val1772Glu) c.2912T>A (p.Val971Glu) | |
2 | g.237366870C>A | CA351187735 | COL6A3 | c.4699G>T (p.Val1567Leu) c.5317G>T (p.Val1773Leu) c.3496G>T (p.Val1166Leu) c.4717G>T (p.Val1573Leu) c.4096G>T (p.Val1366Leu) c.4816G>T (p.Val1606Leu) c.5314G>T (p.Val1772Leu) c.2911G>T (p.Val971Leu) | |
2 | g.237366870C= | CA1337620930 | COL6A3 | c.4699G= (p.Val1567=) c.5317G= (p.Val1773=) c.3496G= (p.Val1166=) c.4717G= (p.Val1573=) c.4096G= (p.Val1366=) c.4816G= (p.Val1606=) c.5314G= (p.Val1772=) c.2911G= (p.Val971=) | |
2 | g.237366870C>G | CA351187737 | COL6A3 | c.4699G>C (p.Val1567Leu) c.5317G>C (p.Val1773Leu) c.3496G>C (p.Val1166Leu) c.4717G>C (p.Val1573Leu) c.4096G>C (p.Val1366Leu) c.4816G>C (p.Val1606Leu) c.5314G>C (p.Val1772Leu) c.2911G>C (p.Val971Leu) | |
2 | g.237366870C>T | CA2188697 | COL6A3 | c.4699G>A (p.Val1567Met) c.5317G>A (p.Val1773Met) c.3496G>A (p.Val1166Met) c.4717G>A (p.Val1573Met) c.4096G>A (p.Val1366Met) c.4816G>A (p.Val1606Met) c.5314G>A (p.Val1772Met) c.2911G>A (p.Val971Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366871T>A | CA351187739 | COL6A3 | c.4698A>T (p.Lys1566Asn) c.5316A>T (p.Lys1772Asn) c.3495A>T (p.Lys1165Asn) c.4716A>T (p.Lys1572Asn) c.4095A>T (p.Lys1365Asn) c.4815A>T (p.Lys1605Asn) c.5313A>T (p.Lys1771Asn) c.2910A>T (p.Lys970Asn) | |
2 | g.237366871T>C | CA431711044 | COL6A3 | c.4698A>G (p.Lys1566=) c.5316A>G (p.Lys1772=) c.3495A>G (p.Lys1165=) c.4716A>G (p.Lys1572=) c.4095A>G (p.Lys1365=) c.4815A>G (p.Lys1605=) c.5313A>G (p.Lys1771=) c.2910A>G (p.Lys970=) | |
2 | g.237366871T>G | CA351187738 | COL6A3 | c.4698A>C (p.Lys1566Asn) c.5316A>C (p.Lys1772Asn) c.3495A>C (p.Lys1165Asn) c.4716A>C (p.Lys1572Asn) c.4095A>C (p.Lys1365Asn) c.4815A>C (p.Lys1605Asn) c.5313A>C (p.Lys1771Asn) c.2910A>C (p.Lys970Asn) | |
2 | g.237366872T>A | CA351187740 | COL6A3 | c.4697A>T (p.Lys1566Ile) c.5315A>T (p.Lys1772Ile) c.3494A>T (p.Lys1165Ile) c.4715A>T (p.Lys1572Ile) c.4094A>T (p.Lys1365Ile) c.4814A>T (p.Lys1605Ile) c.5312A>T (p.Lys1771Ile) c.2909A>T (p.Lys970Ile) | |
2 | g.237366872T>C | CA2188698 | COL6A3 | c.4697A>G (p.Lys1566Arg) c.5315A>G (p.Lys1772Arg) c.3494A>G (p.Lys1165Arg) c.4715A>G (p.Lys1572Arg) c.4094A>G (p.Lys1365Arg) c.4814A>G (p.Lys1605Arg) c.5312A>G (p.Lys1771Arg) c.2909A>G (p.Lys970Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366872T>G | CA351187741 | COL6A3 | c.4697A>C (p.Lys1566Thr) c.5315A>C (p.Lys1772Thr) c.3494A>C (p.Lys1165Thr) c.4715A>C (p.Lys1572Thr) c.4094A>C (p.Lys1365Thr) c.4814A>C (p.Lys1605Thr) c.5312A>C (p.Lys1771Thr) c.2909A>C (p.Lys970Thr) | |
2 | g.237366872T= | CA1337620931 | COL6A3 | c.4697A= (p.Lys1566=) c.5315A= (p.Lys1772=) c.3494A= (p.Lys1165=) c.4715A= (p.Lys1572=) c.4094A= (p.Lys1365=) c.4814A= (p.Lys1605=) c.5312A= (p.Lys1771=) c.2909A= (p.Lys970=) | |
2 | g.237366873T>A | CA351187742 | COL6A3 | c.4696A>T (p.Lys1566Ter) c.5314A>T (p.Lys1772Ter) c.3493A>T (p.Lys1165Ter) c.4714A>T (p.Lys1572Ter) c.4093A>T (p.Lys1365Ter) c.4813A>T (p.Lys1605Ter) c.5311A>T (p.Lys1771Ter) c.2908A>T (p.Lys970Ter) | |
2 | g.237366873T>C | CA351187743 | COL6A3 | c.4696A>G (p.Lys1566Glu) c.5314A>G (p.Lys1772Glu) c.3493A>G (p.Lys1165Glu) c.4714A>G (p.Lys1572Glu) c.4093A>G (p.Lys1365Glu) c.4813A>G (p.Lys1605Glu) c.5311A>G (p.Lys1771Glu) c.2908A>G (p.Lys970Glu) | |
2 | g.237366873T>G | CA351187744 | COL6A3 | c.4696A>C (p.Lys1566Gln) c.5314A>C (p.Lys1772Gln) c.3493A>C (p.Lys1165Gln) c.4714A>C (p.Lys1572Gln) c.4093A>C (p.Lys1365Gln) c.4813A>C (p.Lys1605Gln) c.5311A>C (p.Lys1771Gln) c.2908A>C (p.Lys970Gln) | |
2 | g.237366874G>A | CA431711052 | COL6A3 | c.4695C>T (p.Val1565=) c.5313C>T (p.Val1771=) c.3492C>T (p.Val1164=) c.4713C>T (p.Val1571=) c.4092C>T (p.Val1364=) c.4812C>T (p.Val1604=) c.5310C>T (p.Val1770=) c.2907C>T (p.Val969=) | |
2 | g.237366874G>C | CA2188699 | COL6A3 | c.4695C>G (p.Val1565=) c.5313C>G (p.Val1771=) c.3492C>G (p.Val1164=) c.4713C>G (p.Val1571=) c.4092C>G (p.Val1364=) c.4812C>G (p.Val1604=) c.5310C>G (p.Val1770=) c.2907C>G (p.Val969=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366874G= | CA1337620932 | COL6A3 | c.4695C= (p.Val1565=) c.5313C= (p.Val1771=) c.3492C= (p.Val1164=) c.4713C= (p.Val1571=) c.4092C= (p.Val1364=) c.4812C= (p.Val1604=) c.5310C= (p.Val1770=) c.2907C= (p.Val969=) | |
2 | g.237366874G>T | CA431711053 | COL6A3 | c.4695C>A (p.Val1565=) c.5313C>A (p.Val1771=) c.3492C>A (p.Val1164=) c.4713C>A (p.Val1571=) c.4092C>A (p.Val1364=) c.4812C>A (p.Val1604=) c.5310C>A (p.Val1770=) c.2907C>A (p.Val969=) | |
2 | g.237366875A= | CA1337620933 | COL6A3 | c.4694T= (p.Val1565=) c.5312T= (p.Val1771=) c.3491T= (p.Val1164=) c.4712T= (p.Val1571=) c.4091T= (p.Val1364=) c.4811T= (p.Val1604=) c.5309T= (p.Val1770=) c.2906T= (p.Val969=) | |
2 | g.237366875A>C | CA2188700 | COL6A3 | c.4694T>G (p.Val1565Gly) c.5312T>G (p.Val1771Gly) c.3491T>G (p.Val1164Gly) c.4712T>G (p.Val1571Gly) c.4091T>G (p.Val1364Gly) c.4811T>G (p.Val1604Gly) c.5309T>G (p.Val1770Gly) c.2906T>G (p.Val969Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366875A>G | CA351187745 | COL6A3 | c.4694T>C (p.Val1565Ala) c.5312T>C (p.Val1771Ala) c.3491T>C (p.Val1164Ala) c.4712T>C (p.Val1571Ala) c.4091T>C (p.Val1364Ala) c.4811T>C (p.Val1604Ala) c.5309T>C (p.Val1770Ala) c.2906T>C (p.Val969Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366875A>T | CA67814368 | COL6A3 | c.4694T>A (p.Val1565Asp) c.5312T>A (p.Val1771Asp) c.3491T>A (p.Val1164Asp) c.4712T>A (p.Val1571Asp) c.4091T>A (p.Val1364Asp) c.4811T>A (p.Val1604Asp) c.5309T>A (p.Val1770Asp) c.2906T>A (p.Val969Asp) | dbSNP |
2 | g.237366876C>A | CA351187746 | COL6A3 | c.4693G>T (p.Val1565Phe) c.5311G>T (p.Val1771Phe) c.3490G>T (p.Val1164Phe) c.4711G>T (p.Val1571Phe) c.4090G>T (p.Val1364Phe) c.4810G>T (p.Val1604Phe) c.5308G>T (p.Val1770Phe) c.2905G>T (p.Val969Phe) | |
2 | g.237366876C= | CA1337620934 | COL6A3 | c.4693G= (p.Val1565=) c.5311G= (p.Val1771=) c.3490G= (p.Val1164=) c.4711G= (p.Val1571=) c.4090G= (p.Val1364=) c.4810G= (p.Val1604=) c.5308G= (p.Val1770=) c.2905G= (p.Val969=) | |
2 | g.237366876C>G | CA351187747 | COL6A3 | c.4693G>C (p.Val1565Leu) c.5311G>C (p.Val1771Leu) c.3490G>C (p.Val1164Leu) c.4711G>C (p.Val1571Leu) c.4090G>C (p.Val1364Leu) c.4810G>C (p.Val1604Leu) c.5308G>C (p.Val1770Leu) c.2905G>C (p.Val969Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.237366876C>T | CA351187748 | COL6A3 | c.4693G>A (p.Val1565Ile) c.5311G>A (p.Val1771Ile) c.3490G>A (p.Val1164Ile) c.4711G>A (p.Val1571Ile) c.4090G>A (p.Val1364Ile) c.4810G>A (p.Val1604Ile) c.5308G>A (p.Val1770Ile) c.2905G>A (p.Val969Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366881dup | CA2663798499 | COL6A3 | c.4693dup (p.Val1565GlyfsTer?) c.5311dup (p.Val1771GlyfsTer?) c.3490dup (p.Val1164GlyfsTer?) c.4711dup (p.Val1571GlyfsTer?) c.4090dup (p.Val1364GlyfsTer?) c.4810dup (p.Val1604GlyfsTer?) c.5308dup (p.Val1770GlyfsTer?) c.2905dup (p.Val969GlyfsTer?) | gnomAD v4 |
2 | g.237366881del | CA645514273 | COL6A3 | c.4693del (p.Val1565SerfsTer8) c.5311del (p.Val1771SerfsTer8) c.3490del (p.Val1164SerfsTer8) c.4711del (p.Val1571SerfsTer8) c.4090del (p.Val1364SerfsTer8) c.4810del (p.Val1604SerfsTer8) c.5308del (p.Val1770SerfsTer8) c.2905del (p.Val969SerfsTer8) | ClinVar COSMIC |
2 | g.237366877C>A | CA431711066 | COL6A3 | c.4692G>T (p.Gly1564=) c.5310G>T (p.Gly1770=) c.3489G>T (p.Gly1163=) c.4710G>T (p.Gly1570=) c.4089G>T (p.Gly1363=) c.4809G>T (p.Gly1603=) c.5307G>T (p.Gly1769=) c.2904G>T (p.Gly968=) | |
2 | g.237366877C= | CA1337620935 | COL6A3 | c.4692G= (p.Gly1564=) c.5310G= (p.Gly1770=) c.3489G= (p.Gly1163=) c.4710G= (p.Gly1570=) c.4089G= (p.Gly1363=) c.4809G= (p.Gly1603=) c.5307G= (p.Gly1769=) c.2904G= (p.Gly968=) | |
2 | g.237366877C>G | CA431711068 | COL6A3 | c.4692G>C (p.Gly1564=) c.5310G>C (p.Gly1770=) c.3489G>C (p.Gly1163=) c.4710G>C (p.Gly1570=) c.4089G>C (p.Gly1363=) c.4809G>C (p.Gly1603=) c.5307G>C (p.Gly1769=) c.2904G>C (p.Gly968=) | gnomAD v4 |
2 | g.237366877C>T | CA431711069 | COL6A3 | c.4692G>A (p.Gly1564=) c.5310G>A (p.Gly1770=) c.3489G>A (p.Gly1163=) c.4710G>A (p.Gly1570=) c.4089G>A (p.Gly1363=) c.4809G>A (p.Gly1603=) c.5307G>A (p.Gly1769=) c.2904G>A (p.Gly968=) | dbSNP gnomAD v4 |
2 | g.237366878C>A | CA351187749 | COL6A3 | c.4691G>T (p.Gly1564Val) c.5309G>T (p.Gly1770Val) c.3488G>T (p.Gly1163Val) c.4709G>T (p.Gly1570Val) c.4088G>T (p.Gly1363Val) c.4808G>T (p.Gly1603Val) c.5306G>T (p.Gly1769Val) c.2903G>T (p.Gly968Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366878C= | CA1337620936 | COL6A3 | c.4691G= (p.Gly1564=) c.5309G= (p.Gly1770=) c.3488G= (p.Gly1163=) c.4709G= (p.Gly1570=) c.4088G= (p.Gly1363=) c.4808G= (p.Gly1603=) c.5306G= (p.Gly1769=) c.2903G= (p.Gly968=) | |
2 | g.237366878C>G | CA351187751 | COL6A3 | c.4691G>C (p.Gly1564Ala) c.5309G>C (p.Gly1770Ala) c.3488G>C (p.Gly1163Ala) c.4709G>C (p.Gly1570Ala) c.4088G>C (p.Gly1363Ala) c.4808G>C (p.Gly1603Ala) c.5306G>C (p.Gly1769Ala) c.2903G>C (p.Gly968Ala) | |
2 | g.237366878C>T | CA351187750 | COL6A3 | c.4691G>A (p.Gly1564Glu) c.5309G>A (p.Gly1770Glu) c.3488G>A (p.Gly1163Glu) c.4709G>A (p.Gly1570Glu) c.4088G>A (p.Gly1363Glu) c.4808G>A (p.Gly1603Glu) c.5306G>A (p.Gly1769Glu) c.2903G>A (p.Gly968Glu) | |
2 | g.237366879C>A | CA351187752 | COL6A3 | c.4690G>T (p.Gly1564Trp) c.5308G>T (p.Gly1770Trp) c.3487G>T (p.Gly1163Trp) c.4708G>T (p.Gly1570Trp) c.4087G>T (p.Gly1363Trp) c.4807G>T (p.Gly1603Trp) c.5305G>T (p.Gly1769Trp) c.2902G>T (p.Gly968Trp) | |
2 | g.237366879C= | CA1337620937 | COL6A3 | c.4690G= (p.Gly1564=) c.5308G= (p.Gly1770=) c.3487G= (p.Gly1163=) c.4708G= (p.Gly1570=) c.4087G= (p.Gly1363=) c.4807G= (p.Gly1603=) c.5305G= (p.Gly1769=) c.2902G= (p.Gly968=) | |
2 | g.237366879C>G | CA2188701 | COL6A3 | c.4690G>C (p.Gly1564Arg) c.5308G>C (p.Gly1770Arg) c.3487G>C (p.Gly1163Arg) c.4708G>C (p.Gly1570Arg) c.4087G>C (p.Gly1363Arg) c.4807G>C (p.Gly1603Arg) c.5305G>C (p.Gly1769Arg) c.2902G>C (p.Gly968Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366879C>T | CA351187753 | COL6A3 | c.4690G>A (p.Gly1564Arg) c.5308G>A (p.Gly1770Arg) c.3487G>A (p.Gly1163Arg) c.4708G>A (p.Gly1570Arg) c.4087G>A (p.Gly1363Arg) c.4807G>A (p.Gly1603Arg) c.5305G>A (p.Gly1769Arg) c.2902G>A (p.Gly968Arg) | gnomAD v4 |
2 | g.237366879_237366891delinsCCCTCTGGGTGAG | CA1337620938 | COL6A3 | c.4678_4690delinsCTCACCCAGAGGG (p.Leu1560=) c.5296_5308delinsCTCACCCAGAGGG (p.Leu1766=) c.3475_3487delinsCTCACCCAGAGGG (p.Leu1159=) c.4696_4708delinsCTCACCCAGAGGG (p.Leu1566=) c.4075_4087delinsCTCACCCAGAGGG (p.Leu1359=) c.4795_4807delinsCTCACCCAGAGGG (p.Leu1599=) c.5293_5305delinsCTCACCCAGAGGG (p.Leu1765=) c.2890_2902delinsCTCACCCAGAGGG (p.Leu964=) | |
2 | g.237366880C>A | CA2188702 | COL6A3 | c.4689G>T (p.Arg1563Ser) c.5307G>T (p.Arg1769Ser) c.3486G>T (p.Arg1162Ser) c.4707G>T (p.Arg1569Ser) c.4086G>T (p.Arg1362Ser) c.4806G>T (p.Arg1602Ser) c.5304G>T (p.Arg1768Ser) c.2901G>T (p.Arg967Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366880C= | CA1337620940 | COL6A3 | c.4689G= (p.Arg1563=) c.5307G= (p.Arg1769=) c.3486G= (p.Arg1162=) c.4707G= (p.Arg1569=) c.4086G= (p.Arg1362=) c.4806G= (p.Arg1602=) c.5304G= (p.Arg1768=) c.2901G= (p.Arg967=) | |
2 | g.237366880C>G | CA351187754 | COL6A3 | c.4689G>C (p.Arg1563Ser) c.5307G>C (p.Arg1769Ser) c.3486G>C (p.Arg1162Ser) c.4707G>C (p.Arg1569Ser) c.4086G>C (p.Arg1362Ser) c.4806G>C (p.Arg1602Ser) c.5304G>C (p.Arg1768Ser) c.2901G>C (p.Arg967Ser) | dbSNP gnomAD v4 |
2 | g.237366880C>T | CA431711076 | COL6A3 | c.4689G>A (p.Arg1563=) c.5307G>A (p.Arg1769=) c.3486G>A (p.Arg1162=) c.4707G>A (p.Arg1569=) c.4086G>A (p.Arg1362=) c.4806G>A (p.Arg1602=) c.5304G>A (p.Arg1768=) c.2901G>A (p.Arg967=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366880_237366891del | CA1337620939 | COL6A3 | c.4678_4689del (p.Leu1560_Arg1563del) c.5296_5307del (p.Leu1766_Arg1769del) c.3475_3486del (p.Leu1159_Arg1162del) c.4696_4707del (p.Leu1566_Arg1569del) c.4075_4086del (p.Leu1359_Arg1362del) c.4795_4806del (p.Leu1599_Arg1602del) c.5293_5304del (p.Leu1765_Arg1768del) c.2890_2901del (p.Leu964_Arg967del) | dbSNP gnomAD v4 |
2 | g.237366881C>A | CA351187755 | COL6A3 | c.4688G>T (p.Arg1563Met) c.5306G>T (p.Arg1769Met) c.3485G>T (p.Arg1162Met) c.4706G>T (p.Arg1569Met) c.4085G>T (p.Arg1362Met) c.4805G>T (p.Arg1602Met) c.5303G>T (p.Arg1768Met) c.2900G>T (p.Arg967Met) | |
2 | g.237366881C= | CA1337620941 | COL6A3 | c.4688G= (p.Arg1563=) c.5306G= (p.Arg1769=) c.3485G= (p.Arg1162=) c.4706G= (p.Arg1569=) c.4085G= (p.Arg1362=) c.4805G= (p.Arg1602=) c.5303G= (p.Arg1768=) c.2900G= (p.Arg967=) | |
2 | g.237366881C>G | CA2188703 | COL6A3 | c.4688G>C (p.Arg1563Thr) c.5306G>C (p.Arg1769Thr) c.3485G>C (p.Arg1162Thr) c.4706G>C (p.Arg1569Thr) c.4085G>C (p.Arg1362Thr) c.4805G>C (p.Arg1602Thr) c.5303G>C (p.Arg1768Thr) c.2900G>C (p.Arg967Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366881C>T | CA351187756 | COL6A3 | c.4688G>A (p.Arg1563Lys) c.5306G>A (p.Arg1769Lys) c.3485G>A (p.Arg1162Lys) c.4706G>A (p.Arg1569Lys) c.4085G>A (p.Arg1362Lys) c.4805G>A (p.Arg1602Lys) c.5303G>A (p.Arg1768Lys) c.2900G>A (p.Arg967Lys) | dbSNP |
2 | g.237366881_237366882delinsCT | CA1337620942 | COL6A3 | c.4687_4688delinsAG (p.Arg1563=) c.5305_5306delinsAG (p.Arg1769=) c.3484_3485delinsAG (p.Arg1162=) c.4705_4706delinsAG (p.Arg1569=) c.4084_4085delinsAG (p.Arg1362=) c.4804_4805delinsAG (p.Arg1602=) c.5302_5303delinsAG (p.Arg1768=) c.2899_2900delinsAG (p.Arg967=) | |
2 | g.237366882del | CA916807418 | COL6A3 | c.4687del (p.Arg1563GlyfsTer10) c.5305del (p.Arg1769GlyfsTer10) c.3484del (p.Arg1162GlyfsTer10) c.4705del (p.Arg1569GlyfsTer10) c.4084del (p.Arg1362GlyfsTer10) c.4804del (p.Arg1602GlyfsTer10) c.5302del (p.Arg1768GlyfsTer10) c.2899del (p.Arg967GlyfsTer10) | dbSNP |
2 | g.237366882T>A | CA351187757 | COL6A3 | c.4687A>T (p.Arg1563Trp) c.5305A>T (p.Arg1769Trp) c.3484A>T (p.Arg1162Trp) c.4705A>T (p.Arg1569Trp) c.4084A>T (p.Arg1362Trp) c.4804A>T (p.Arg1602Trp) c.5302A>T (p.Arg1768Trp) c.2899A>T (p.Arg967Trp) | ClinVar dbSNP gnomAD v4 |
2 | g.237366882T>C | CA351187758 | COL6A3 | c.4687A>G (p.Arg1563Gly) c.5305A>G (p.Arg1769Gly) c.3484A>G (p.Arg1162Gly) c.4705A>G (p.Arg1569Gly) c.4084A>G (p.Arg1362Gly) c.4804A>G (p.Arg1602Gly) c.5302A>G (p.Arg1768Gly) c.2899A>G (p.Arg967Gly) | |
2 | g.237366882T>G | CA431711080 | COL6A3 | c.4687A>C (p.Arg1563=) c.5305A>C (p.Arg1769=) c.3484A>C (p.Arg1162=) c.4705A>C (p.Arg1569=) c.4084A>C (p.Arg1362=) c.4804A>C (p.Arg1602=) c.5302A>C (p.Arg1768=) c.2899A>C (p.Arg967=) | |
2 | g.237366883C>A | CA351187759 | COL6A3 | c.4686G>T (p.Gln1562His) c.5304G>T (p.Gln1768His) c.3483G>T (p.Gln1161His) c.4704G>T (p.Gln1568His) c.4083G>T (p.Gln1361His) c.4803G>T (p.Gln1601His) c.5301G>T (p.Gln1767His) c.2898G>T (p.Gln966His) | |
2 | g.237366883C>G | CA351187760 | COL6A3 | c.4686G>C (p.Gln1562His) c.5304G>C (p.Gln1768His) c.3483G>C (p.Gln1161His) c.4704G>C (p.Gln1568His) c.4083G>C (p.Gln1361His) c.4803G>C (p.Gln1601His) c.5301G>C (p.Gln1767His) c.2898G>C (p.Gln966His) | |
2 | g.237366883C>T | CA431711082 | COL6A3 | c.4686G>A (p.Gln1562=) c.5304G>A (p.Gln1768=) c.3483G>A (p.Gln1161=) c.4704G>A (p.Gln1568=) c.4083G>A (p.Gln1361=) c.4803G>A (p.Gln1601=) c.5301G>A (p.Gln1767=) c.2898G>A (p.Gln966=) | gnomAD v4 |
2 | g.237366884T>A | CA351187761 | COL6A3 | c.4685A>T (p.Gln1562Leu) c.5303A>T (p.Gln1768Leu) c.3482A>T (p.Gln1161Leu) c.4703A>T (p.Gln1568Leu) c.4082A>T (p.Gln1361Leu) c.4802A>T (p.Gln1601Leu) c.5300A>T (p.Gln1767Leu) c.2897A>T (p.Gln966Leu) | |
2 | g.237366884T>C | CA351187762 | COL6A3 | c.4685A>G (p.Gln1562Arg) c.5303A>G (p.Gln1768Arg) c.3482A>G (p.Gln1161Arg) c.4703A>G (p.Gln1568Arg) c.4082A>G (p.Gln1361Arg) c.4802A>G (p.Gln1601Arg) c.5300A>G (p.Gln1767Arg) c.2897A>G (p.Gln966Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366884T>G | CA351187763 | COL6A3 | c.4685A>C (p.Gln1562Pro) c.5303A>C (p.Gln1768Pro) c.3482A>C (p.Gln1161Pro) c.4703A>C (p.Gln1568Pro) c.4082A>C (p.Gln1361Pro) c.4802A>C (p.Gln1601Pro) c.5300A>C (p.Gln1767Pro) c.2897A>C (p.Gln966Pro) | gnomAD v4 |
2 | g.237366884T= | CA1337620943 | COL6A3 | c.4685A= (p.Gln1562=) c.5303A= (p.Gln1768=) c.3482A= (p.Gln1161=) c.4703A= (p.Gln1568=) c.4082A= (p.Gln1361=) c.4802A= (p.Gln1601=) c.5300A= (p.Gln1767=) c.2897A= (p.Gln966=) | |
2 | g.237366885G>A | CA351187766 | COL6A3 | c.4684C>T (p.Gln1562Ter) c.5302C>T (p.Gln1768Ter) c.3481C>T (p.Gln1161Ter) c.4702C>T (p.Gln1568Ter) c.4081C>T (p.Gln1361Ter) c.4801C>T (p.Gln1601Ter) c.5299C>T (p.Gln1767Ter) c.2896C>T (p.Gln966Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366885G>C | CA351187764 | COL6A3 | c.4684C>G (p.Gln1562Glu) c.5302C>G (p.Gln1768Glu) c.3481C>G (p.Gln1161Glu) c.4702C>G (p.Gln1568Glu) c.4081C>G (p.Gln1361Glu) c.4801C>G (p.Gln1601Glu) c.5299C>G (p.Gln1767Glu) c.2896C>G (p.Gln966Glu) | |
2 | g.237366885G= | CA1337620944 | COL6A3 | c.4684C= (p.Gln1562=) c.5302C= (p.Gln1768=) c.3481C= (p.Gln1161=) c.4702C= (p.Gln1568=) c.4081C= (p.Gln1361=) c.4801C= (p.Gln1601=) c.5299C= (p.Gln1767=) c.2896C= (p.Gln966=) | |
2 | g.237366885G>T | CA351187765 | COL6A3 | c.4684C>A (p.Gln1562Lys) c.5302C>A (p.Gln1768Lys) c.3481C>A (p.Gln1161Lys) c.4702C>A (p.Gln1568Lys) c.4081C>A (p.Gln1361Lys) c.4801C>A (p.Gln1601Lys) c.5299C>A (p.Gln1767Lys) c.2896C>A (p.Gln966Lys) | |
2 | g.237366886G>A | CA431711089 | COL6A3 | c.4683C>T (p.Thr1561=) c.5301C>T (p.Thr1767=) c.3480C>T (p.Thr1160=) c.4701C>T (p.Thr1567=) c.4080C>T (p.Thr1360=) c.4800C>T (p.Thr1600=) c.5298C>T (p.Thr1766=) c.2895C>T (p.Thr965=) | |
2 | g.237366886G>C | CA431711090 | COL6A3 | c.4683C>G (p.Thr1561=) c.5301C>G (p.Thr1767=) c.3480C>G (p.Thr1160=) c.4701C>G (p.Thr1567=) c.4080C>G (p.Thr1360=) c.4800C>G (p.Thr1600=) c.5298C>G (p.Thr1766=) c.2895C>G (p.Thr965=) | |
2 | g.237366886G>T | CA431711091 | COL6A3 | c.4683C>A (p.Thr1561=) c.5301C>A (p.Thr1767=) c.3480C>A (p.Thr1160=) c.4701C>A (p.Thr1567=) c.4080C>A (p.Thr1360=) c.4800C>A (p.Thr1600=) c.5298C>A (p.Thr1766=) c.2895C>A (p.Thr965=) | |
2 | g.237366887G>A | CA351187767 | COL6A3 | c.4682C>T (p.Thr1561Ile) c.5300C>T (p.Thr1767Ile) c.3479C>T (p.Thr1160Ile) c.4700C>T (p.Thr1567Ile) c.4079C>T (p.Thr1360Ile) c.4799C>T (p.Thr1600Ile) c.5297C>T (p.Thr1766Ile) c.2894C>T (p.Thr965Ile) | gnomAD v4 |
2 | g.237366887G>C | CA351187768 | COL6A3 | c.4682C>G (p.Thr1561Ser) c.5300C>G (p.Thr1767Ser) c.3479C>G (p.Thr1160Ser) c.4700C>G (p.Thr1567Ser) c.4079C>G (p.Thr1360Ser) c.4799C>G (p.Thr1600Ser) c.5297C>G (p.Thr1766Ser) c.2894C>G (p.Thr965Ser) | |
2 | g.237366887G>T | CA351187769 | COL6A3 | c.4682C>A (p.Thr1561Asn) c.5300C>A (p.Thr1767Asn) c.3479C>A (p.Thr1160Asn) c.4700C>A (p.Thr1567Asn) c.4079C>A (p.Thr1360Asn) c.4799C>A (p.Thr1600Asn) c.5297C>A (p.Thr1766Asn) c.2894C>A (p.Thr965Asn) | |
2 | g.237366888T>A | CA351187770 | COL6A3 | c.4681A>T (p.Thr1561Ser) c.5299A>T (p.Thr1767Ser) c.3478A>T (p.Thr1160Ser) c.4699A>T (p.Thr1567Ser) c.4078A>T (p.Thr1360Ser) c.4798A>T (p.Thr1600Ser) c.5296A>T (p.Thr1766Ser) c.2893A>T (p.Thr965Ser) | |
2 | g.237366888T>C | CA351187771 | COL6A3 | c.4681A>G (p.Thr1561Ala) c.5299A>G (p.Thr1767Ala) c.3478A>G (p.Thr1160Ala) c.4699A>G (p.Thr1567Ala) c.4078A>G (p.Thr1360Ala) c.4798A>G (p.Thr1600Ala) c.5296A>G (p.Thr1766Ala) c.2893A>G (p.Thr965Ala) | |
2 | g.237366888T>G | CA351187772 | COL6A3 | c.4681A>C (p.Thr1561Pro) c.5299A>C (p.Thr1767Pro) c.3478A>C (p.Thr1160Pro) c.4699A>C (p.Thr1567Pro) c.4078A>C (p.Thr1360Pro) c.4798A>C (p.Thr1600Pro) c.5296A>C (p.Thr1766Pro) c.2893A>C (p.Thr965Pro) | gnomAD v4 |
2 | g.237366889G>A | CA431711096 | COL6A3 | c.4680C>T (p.Leu1560=) c.5298C>T (p.Leu1766=) c.3477C>T (p.Leu1159=) c.4698C>T (p.Leu1566=) c.4077C>T (p.Leu1359=) c.4797C>T (p.Leu1599=) c.5295C>T (p.Leu1765=) c.2892C>T (p.Leu964=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366889G>C | CA431711097 | COL6A3 | c.4680C>G (p.Leu1560=) c.5298C>G (p.Leu1766=) c.3477C>G (p.Leu1159=) c.4698C>G (p.Leu1566=) c.4077C>G (p.Leu1359=) c.4797C>G (p.Leu1599=) c.5295C>G (p.Leu1765=) c.2892C>G (p.Leu964=) | |
2 | g.237366889G= | CA1337620945 | COL6A3 | c.4680C= (p.Leu1560=) c.5298C= (p.Leu1766=) c.3477C= (p.Leu1159=) c.4698C= (p.Leu1566=) c.4077C= (p.Leu1359=) c.4797C= (p.Leu1599=) c.5295C= (p.Leu1765=) c.2892C= (p.Leu964=) | |
2 | g.237366889G>T | CA2188704 | COL6A3 | c.4680C>A (p.Leu1560=) c.5298C>A (p.Leu1766=) c.3477C>A (p.Leu1159=) c.4698C>A (p.Leu1566=) c.4077C>A (p.Leu1359=) c.4797C>A (p.Leu1599=) c.5295C>A (p.Leu1765=) c.2892C>A (p.Leu964=) | dbSNP ExAC gnomAD v2 |
2 | g.237366890A>C | CA351187773 | COL6A3 | c.4679T>G (p.Leu1560Arg) c.5297T>G (p.Leu1766Arg) c.3476T>G (p.Leu1159Arg) c.4697T>G (p.Leu1566Arg) c.4076T>G (p.Leu1359Arg) c.4796T>G (p.Leu1599Arg) c.5294T>G (p.Leu1765Arg) c.2891T>G (p.Leu964Arg) | |
2 | g.237366890A>G | CA351187774 | COL6A3 | c.4679T>C (p.Leu1560Pro) c.5297T>C (p.Leu1766Pro) c.3476T>C (p.Leu1159Pro) c.4697T>C (p.Leu1566Pro) c.4076T>C (p.Leu1359Pro) c.4796T>C (p.Leu1599Pro) c.5294T>C (p.Leu1765Pro) c.2891T>C (p.Leu964Pro) | |
2 | g.237366890A>T | CA351187775 | COL6A3 | c.4679T>A (p.Leu1560His) c.5297T>A (p.Leu1766His) c.3476T>A (p.Leu1159His) c.4697T>A (p.Leu1566His) c.4076T>A (p.Leu1359His) c.4796T>A (p.Leu1599His) c.5294T>A (p.Leu1765His) c.2891T>A (p.Leu964His) | |
2 | g.237366891G>A | CA351187776 | COL6A3 | c.4678C>T (p.Leu1560Phe) c.5296C>T (p.Leu1766Phe) c.3475C>T (p.Leu1159Phe) c.4696C>T (p.Leu1566Phe) c.4075C>T (p.Leu1359Phe) c.4795C>T (p.Leu1599Phe) c.5293C>T (p.Leu1765Phe) c.2890C>T (p.Leu964Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366891G>C | CA10606139 | COL6A3 | c.4678C>G (p.Leu1560Val) c.5296C>G (p.Leu1766Val) c.3475C>G (p.Leu1159Val) c.4696C>G (p.Leu1566Val) c.4075C>G (p.Leu1359Val) c.4795C>G (p.Leu1599Val) c.5293C>G (p.Leu1765Val) c.2890C>G (p.Leu964Val) | ClinVar dbSNP gnomAD v4 |
2 | g.237366891G= | CA1337620946 | COL6A3 | c.4678C= (p.Leu1560=) c.5296C= (p.Leu1766=) c.3475C= (p.Leu1159=) c.4696C= (p.Leu1566=) c.4075C= (p.Leu1359=) c.4795C= (p.Leu1599=) c.5293C= (p.Leu1765=) c.2890C= (p.Leu964=) | |
2 | g.237366891G>T | CA351187777 | COL6A3 | c.4678C>A (p.Leu1560Ile) c.5296C>A (p.Leu1766Ile) c.3475C>A (p.Leu1159Ile) c.4696C>A (p.Leu1566Ile) c.4075C>A (p.Leu1359Ile) c.4795C>A (p.Leu1599Ile) c.5293C>A (p.Leu1765Ile) c.2890C>A (p.Leu964Ile) | |
2 | g.237366892G>A | CA431711102 | COL6A3 | c.4677C>T (p.Ala1559=) c.5295C>T (p.Ala1765=) c.3474C>T (p.Ala1158=) c.4695C>T (p.Ala1565=) c.4074C>T (p.Ala1358=) c.4794C>T (p.Ala1598=) c.5292C>T (p.Ala1764=) c.2889C>T (p.Ala963=) | |
2 | g.237366892G>C | CA431711104 | COL6A3 | c.4677C>G (p.Ala1559=) c.5295C>G (p.Ala1765=) c.3474C>G (p.Ala1158=) c.4695C>G (p.Ala1565=) c.4074C>G (p.Ala1358=) c.4794C>G (p.Ala1598=) c.5292C>G (p.Ala1764=) c.2889C>G (p.Ala963=) | |
2 | g.237366892G>T | CA431711103 | COL6A3 | c.4677C>A (p.Ala1559=) c.5295C>A (p.Ala1765=) c.3474C>A (p.Ala1158=) c.4695C>A (p.Ala1565=) c.4074C>A (p.Ala1358=) c.4794C>A (p.Ala1598=) c.5292C>A (p.Ala1764=) c.2889C>A (p.Ala963=) | |
2 | g.237366893G>A | CA351187778 | COL6A3 | c.4676C>T (p.Ala1559Val) c.5294C>T (p.Ala1765Val) c.3473C>T (p.Ala1158Val) c.4694C>T (p.Ala1565Val) c.4073C>T (p.Ala1358Val) c.4793C>T (p.Ala1598Val) c.5291C>T (p.Ala1764Val) c.2888C>T (p.Ala963Val) | gnomAD v4 |
2 | g.237366893G>C | CA351187780 | COL6A3 | c.4676C>G (p.Ala1559Gly) c.5294C>G (p.Ala1765Gly) c.3473C>G (p.Ala1158Gly) c.4694C>G (p.Ala1565Gly) c.4073C>G (p.Ala1358Gly) c.4793C>G (p.Ala1598Gly) c.5291C>G (p.Ala1764Gly) c.2888C>G (p.Ala963Gly) | |
2 | g.237366893G>T | CA351187779 | COL6A3 | c.4676C>A (p.Ala1559Asp) c.5294C>A (p.Ala1765Asp) c.3473C>A (p.Ala1158Asp) c.4694C>A (p.Ala1565Asp) c.4073C>A (p.Ala1358Asp) c.4793C>A (p.Ala1598Asp) c.5291C>A (p.Ala1764Asp) c.2888C>A (p.Ala963Asp) | |
2 | g.237366894C>A | CA351187781 | COL6A3 | c.4675G>T (p.Ala1559Ser) c.5293G>T (p.Ala1765Ser) c.3472G>T (p.Ala1158Ser) c.4693G>T (p.Ala1565Ser) c.4072G>T (p.Ala1358Ser) c.4792G>T (p.Ala1598Ser) c.5290G>T (p.Ala1764Ser) c.2887G>T (p.Ala963Ser) | |
2 | g.237366894C>G | CA351187782 | COL6A3 | c.4675G>C (p.Ala1559Pro) c.5293G>C (p.Ala1765Pro) c.3472G>C (p.Ala1158Pro) c.4693G>C (p.Ala1565Pro) c.4072G>C (p.Ala1358Pro) c.4792G>C (p.Ala1598Pro) c.5290G>C (p.Ala1764Pro) c.2887G>C (p.Ala963Pro) | |
2 | g.237366894C>T | CA351187783 | COL6A3 | c.4675G>A (p.Ala1559Thr) c.5293G>A (p.Ala1765Thr) c.3472G>A (p.Ala1158Thr) c.4693G>A (p.Ala1565Thr) c.4072G>A (p.Ala1358Thr) c.4792G>A (p.Ala1598Thr) c.5290G>A (p.Ala1764Thr) c.2887G>A (p.Ala963Thr) | |
2 | g.237366895C>A | CA431711110 | COL6A3 | c.4674G>T (p.Leu1558=) c.5292G>T (p.Leu1764=) c.3471G>T (p.Leu1157=) c.4692G>T (p.Leu1564=) c.4071G>T (p.Leu1357=) c.4791G>T (p.Leu1597=) c.5289G>T (p.Leu1763=) c.2886G>T (p.Leu962=) | |
2 | g.237366895C= | CA1337620947 | COL6A3 | c.4674G= (p.Leu1558=) c.5292G= (p.Leu1764=) c.3471G= (p.Leu1157=) c.4692G= (p.Leu1564=) c.4071G= (p.Leu1357=) c.4791G= (p.Leu1597=) c.5289G= (p.Leu1763=) c.2886G= (p.Leu962=) | |
2 | g.237366895C>G | CA431711109 | COL6A3 | c.4674G>C (p.Leu1558=) c.5292G>C (p.Leu1764=) c.3471G>C (p.Leu1157=) c.4692G>C (p.Leu1564=) c.4071G>C (p.Leu1357=) c.4791G>C (p.Leu1597=) c.5289G>C (p.Leu1763=) c.2886G>C (p.Leu962=) | |
2 | g.237366895C>T | CA2188705 | COL6A3 | c.4674G>A (p.Leu1558=) c.5292G>A (p.Leu1764=) c.3471G>A (p.Leu1157=) c.4692G>A (p.Leu1564=) c.4071G>A (p.Leu1357=) c.4791G>A (p.Leu1597=) c.5289G>A (p.Leu1763=) c.2886G>A (p.Leu962=) | dbSNP ExAC |
2 | g.237366896A= | CA1337620948 | COL6A3 | c.4673T= (p.Leu1558=) c.5291T= (p.Leu1764=) c.3470T= (p.Leu1157=) c.4691T= (p.Leu1564=) c.4070T= (p.Leu1357=) c.4790T= (p.Leu1597=) c.5288T= (p.Leu1763=) c.2885T= (p.Leu962=) | |
2 | g.237366896A>C | CA351187784 | COL6A3 | c.4673T>G (p.Leu1558Arg) c.5291T>G (p.Leu1764Arg) c.3470T>G (p.Leu1157Arg) c.4691T>G (p.Leu1564Arg) c.4070T>G (p.Leu1357Arg) c.4790T>G (p.Leu1597Arg) c.5288T>G (p.Leu1763Arg) c.2885T>G (p.Leu962Arg) | |
2 | g.237366896A>G | CA351187785 | COL6A3 | c.4673T>C (p.Leu1558Pro) c.5291T>C (p.Leu1764Pro) c.3470T>C (p.Leu1157Pro) c.4691T>C (p.Leu1564Pro) c.4070T>C (p.Leu1357Pro) c.4790T>C (p.Leu1597Pro) c.5288T>C (p.Leu1763Pro) c.2885T>C (p.Leu962Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366896A>T | CA351187786 | COL6A3 | c.4673T>A (p.Leu1558Gln) c.5291T>A (p.Leu1764Gln) c.3470T>A (p.Leu1157Gln) c.4691T>A (p.Leu1564Gln) c.4070T>A (p.Leu1357Gln) c.4790T>A (p.Leu1597Gln) c.5288T>A (p.Leu1763Gln) c.2885T>A (p.Leu962Gln) | |
2 | g.237366897G>A | CA431711112 | COL6A3 | c.4672C>T (p.Leu1558=) c.5290C>T (p.Leu1764=) c.3469C>T (p.Leu1157=) c.4690C>T (p.Leu1564=) c.4069C>T (p.Leu1357=) c.4789C>T (p.Leu1597=) c.5287C>T (p.Leu1763=) c.2884C>T (p.Leu962=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366897G>C | CA351187787 | COL6A3 | c.4672C>G (p.Leu1558Val) c.5290C>G (p.Leu1764Val) c.3469C>G (p.Leu1157Val) c.4690C>G (p.Leu1564Val) c.4069C>G (p.Leu1357Val) c.4789C>G (p.Leu1597Val) c.5287C>G (p.Leu1763Val) c.2884C>G (p.Leu962Val) | |
2 | g.237366897G= | CA1337620949 | COL6A3 | c.4672C= (p.Leu1558=) c.5290C= (p.Leu1764=) c.3469C= (p.Leu1157=) c.4690C= (p.Leu1564=) c.4069C= (p.Leu1357=) c.4789C= (p.Leu1597=) c.5287C= (p.Leu1763=) c.2884C= (p.Leu962=) | |
2 | g.237366897G>T | CA351187788 | COL6A3 | c.4672C>A (p.Leu1558Met) c.5290C>A (p.Leu1764Met) c.3469C>A (p.Leu1157Met) c.4690C>A (p.Leu1564Met) c.4069C>A (p.Leu1357Met) c.4789C>A (p.Leu1597Met) c.5287C>A (p.Leu1763Met) c.2884C>A (p.Leu962Met) | |
2 | g.237366898G>A | CA431711116 | COL6A3 | c.4671C>T (p.Ser1557=) c.5289C>T (p.Ser1763=) c.3468C>T (p.Ser1156=) c.4689C>T (p.Ser1563=) c.4068C>T (p.Ser1356=) c.4788C>T (p.Ser1596=) c.5286C>T (p.Ser1762=) c.2883C>T (p.Ser961=) | |
2 | g.237366898G>C | CA351187789 | COL6A3 | c.4671C>G (p.Ser1557Arg) c.5289C>G (p.Ser1763Arg) c.3468C>G (p.Ser1156Arg) c.4689C>G (p.Ser1563Arg) c.4068C>G (p.Ser1356Arg) c.4788C>G (p.Ser1596Arg) c.5286C>G (p.Ser1762Arg) c.2883C>G (p.Ser961Arg) | |
2 | g.237366898G>T | CA351187790 | COL6A3 | c.4671C>A (p.Ser1557Arg) c.5289C>A (p.Ser1763Arg) c.3468C>A (p.Ser1156Arg) c.4689C>A (p.Ser1563Arg) c.4068C>A (p.Ser1356Arg) c.4788C>A (p.Ser1596Arg) c.5286C>A (p.Ser1762Arg) c.2883C>A (p.Ser961Arg) | dbSNP |
2 | g.237366899C>A | CA351187791 | COL6A3 | c.4670G>T (p.Ser1557Ile) c.5288G>T (p.Ser1763Ile) c.3467G>T (p.Ser1156Ile) c.4688G>T (p.Ser1563Ile) c.4067G>T (p.Ser1356Ile) c.4787G>T (p.Ser1596Ile) c.5285G>T (p.Ser1762Ile) c.2882G>T (p.Ser961Ile) | dbSNP |
2 | g.237366899C= | CA1337620950 | COL6A3 | c.4670G= (p.Ser1557=) c.5288G= (p.Ser1763=) c.3467G= (p.Ser1156=) c.4688G= (p.Ser1563=) c.4067G= (p.Ser1356=) c.4787G= (p.Ser1596=) c.5285G= (p.Ser1762=) c.2882G= (p.Ser961=) | |
2 | g.237366899C>G | CA351187792 | COL6A3 | c.4670G>C (p.Ser1557Thr) c.5288G>C (p.Ser1763Thr) c.3467G>C (p.Ser1156Thr) c.4688G>C (p.Ser1563Thr) c.4067G>C (p.Ser1356Thr) c.4787G>C (p.Ser1596Thr) c.5285G>C (p.Ser1762Thr) c.2882G>C (p.Ser961Thr) | |
2 | g.237366899C>T | CA351187793 | COL6A3 | c.4670G>A (p.Ser1557Asn) c.5288G>A (p.Ser1763Asn) c.3467G>A (p.Ser1156Asn) c.4688G>A (p.Ser1563Asn) c.4067G>A (p.Ser1356Asn) c.4787G>A (p.Ser1596Asn) c.5285G>A (p.Ser1762Asn) c.2882G>A (p.Ser961Asn) | |
2 | g.237366900T>A | CA351187794 | COL6A3 | c.4669A>T (p.Ser1557Cys) c.5287A>T (p.Ser1763Cys) c.3466A>T (p.Ser1156Cys) c.4687A>T (p.Ser1563Cys) c.4066A>T (p.Ser1356Cys) c.4786A>T (p.Ser1596Cys) c.5284A>T (p.Ser1762Cys) c.2881A>T (p.Ser961Cys) | |
2 | g.237366900T>C | CA351187796 | COL6A3 | c.4669A>G (p.Ser1557Gly) c.5287A>G (p.Ser1763Gly) c.3466A>G (p.Ser1156Gly) c.4687A>G (p.Ser1563Gly) c.4066A>G (p.Ser1356Gly) c.4786A>G (p.Ser1596Gly) c.5284A>G (p.Ser1762Gly) c.2881A>G (p.Ser961Gly) | gnomAD v4 |
2 | g.237366900T>G | CA351187795 | COL6A3 | c.4669A>C (p.Ser1557Arg) c.5287A>C (p.Ser1763Arg) c.3466A>C (p.Ser1156Arg) c.4687A>C (p.Ser1563Arg) c.4066A>C (p.Ser1356Arg) c.4786A>C (p.Ser1596Arg) c.5284A>C (p.Ser1762Arg) c.2881A>C (p.Ser961Arg) | |
2 | g.237366901C>A | CA431711119 | COL6A3 | c.4668G>T (p.Val1556=) c.5286G>T (p.Val1762=) c.3465G>T (p.Val1155=) c.4686G>T (p.Val1562=) c.4065G>T (p.Val1355=) c.4785G>T (p.Val1595=) c.5283G>T (p.Val1761=) c.2880G>T (p.Val960=) | |
2 | g.237366901C>G | CA431711120 | COL6A3 | c.4668G>C (p.Val1556=) c.5286G>C (p.Val1762=) c.3465G>C (p.Val1155=) c.4686G>C (p.Val1562=) c.4065G>C (p.Val1355=) c.4785G>C (p.Val1595=) c.5283G>C (p.Val1761=) c.2880G>C (p.Val960=) | |
2 | g.237366901C>T | CA431711121 | COL6A3 | c.4668G>A (p.Val1556=) c.5286G>A (p.Val1762=) c.3465G>A (p.Val1155=) c.4686G>A (p.Val1562=) c.4065G>A (p.Val1355=) c.4785G>A (p.Val1595=) c.5283G>A (p.Val1761=) c.2880G>A (p.Val960=) | dbSNP gnomAD v4 |
2 | g.237366902A= | CA1337620951 | COL6A3 | c.4667T= (p.Val1556=) c.5285T= (p.Val1762=) c.3464T= (p.Val1155=) c.4685T= (p.Val1562=) c.4064T= (p.Val1355=) c.4784T= (p.Val1595=) c.5282T= (p.Val1761=) c.2879T= (p.Val960=) | |
2 | g.237366902A>C | CA351187797 | COL6A3 | c.4667T>G (p.Val1556Gly) c.5285T>G (p.Val1762Gly) c.3464T>G (p.Val1155Gly) c.4685T>G (p.Val1562Gly) c.4064T>G (p.Val1355Gly) c.4784T>G (p.Val1595Gly) c.5282T>G (p.Val1761Gly) c.2879T>G (p.Val960Gly) | gnomAD v4 |
2 | g.237366902A>G | CA351187798 | COL6A3 | c.4667T>C (p.Val1556Ala) c.5285T>C (p.Val1762Ala) c.3464T>C (p.Val1155Ala) c.4685T>C (p.Val1562Ala) c.4064T>C (p.Val1355Ala) c.4784T>C (p.Val1595Ala) c.5282T>C (p.Val1761Ala) c.2879T>C (p.Val960Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366902A>T | CA351187799 | COL6A3 | c.4667T>A (p.Val1556Glu) c.5285T>A (p.Val1762Glu) c.3464T>A (p.Val1155Glu) c.4685T>A (p.Val1562Glu) c.4064T>A (p.Val1355Glu) c.4784T>A (p.Val1595Glu) c.5282T>A (p.Val1761Glu) c.2879T>A (p.Val960Glu) | |
2 | g.237366903C>A | CA351187800 | COL6A3 | c.4666G>T (p.Val1556Leu) c.5284G>T (p.Val1762Leu) c.3463G>T (p.Val1155Leu) c.4684G>T (p.Val1562Leu) c.4063G>T (p.Val1355Leu) c.4783G>T (p.Val1595Leu) c.5281G>T (p.Val1761Leu) c.2878G>T (p.Val960Leu) | |
2 | g.237366903C>G | CA351187801 | COL6A3 | c.4666G>C (p.Val1556Leu) c.5284G>C (p.Val1762Leu) c.3463G>C (p.Val1155Leu) c.4684G>C (p.Val1562Leu) c.4063G>C (p.Val1355Leu) c.4783G>C (p.Val1595Leu) c.5281G>C (p.Val1761Leu) c.2878G>C (p.Val960Leu) | |
2 | g.237366903C>T | CA351187802 | COL6A3 | c.4666G>A (p.Val1556Met) c.5284G>A (p.Val1762Met) c.3463G>A (p.Val1155Met) c.4684G>A (p.Val1562Met) c.4063G>A (p.Val1355Met) c.4783G>A (p.Val1595Met) c.5281G>A (p.Val1761Met) c.2878G>A (p.Val960Met) | |
2 | g.237366904A= | CA1337620952 | COL6A3 | c.4665T= (p.Asp1555=) c.5283T= (p.Asp1761=) c.3462T= (p.Asp1154=) c.4683T= (p.Asp1561=) c.4062T= (p.Asp1354=) c.4782T= (p.Asp1594=) c.5280T= (p.Asp1760=) c.2877T= (p.Asp959=) | |
2 | g.237366904A>C | CA351187803 | COL6A3 | c.4665T>G (p.Asp1555Glu) c.5283T>G (p.Asp1761Glu) c.3462T>G (p.Asp1154Glu) c.4683T>G (p.Asp1561Glu) c.4062T>G (p.Asp1354Glu) c.4782T>G (p.Asp1594Glu) c.5280T>G (p.Asp1760Glu) c.2877T>G (p.Asp959Glu) | |
2 | g.237366904A>G | CA431711130 | COL6A3 | c.4665T>C (p.Asp1555=) c.5283T>C (p.Asp1761=) c.3462T>C (p.Asp1154=) c.4683T>C (p.Asp1561=) c.4062T>C (p.Asp1354=) c.4782T>C (p.Asp1594=) c.5280T>C (p.Asp1760=) c.2877T>C (p.Asp959=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237366904A>T | CA351187804 | COL6A3 | c.4665T>A (p.Asp1555Glu) c.5283T>A (p.Asp1761Glu) c.3462T>A (p.Asp1154Glu) c.4683T>A (p.Asp1561Glu) c.4062T>A (p.Asp1354Glu) c.4782T>A (p.Asp1594Glu) c.5280T>A (p.Asp1760Glu) c.2877T>A (p.Asp959Glu) | |
2 | g.237366905T>A | CA351187805 | COL6A3 | c.4664A>T (p.Asp1555Val) c.5282A>T (p.Asp1761Val) c.3461A>T (p.Asp1154Val) c.4682A>T (p.Asp1561Val) c.4061A>T (p.Asp1354Val) c.4781A>T (p.Asp1594Val) c.5279A>T (p.Asp1760Val) c.2876A>T (p.Asp959Val) | |
2 | g.237366905T>C | CA351187806 | COL6A3 | c.4664A>G (p.Asp1555Gly) c.5282A>G (p.Asp1761Gly) c.3461A>G (p.Asp1154Gly) c.4682A>G (p.Asp1561Gly) c.4061A>G (p.Asp1354Gly) c.4781A>G (p.Asp1594Gly) c.5279A>G (p.Asp1760Gly) c.2876A>G (p.Asp959Gly) | gnomAD v4 |
2 | g.237366905T>G | CA351187807 | COL6A3 | c.4664A>C (p.Asp1555Ala) c.5282A>C (p.Asp1761Ala) c.3461A>C (p.Asp1154Ala) c.4682A>C (p.Asp1561Ala) c.4061A>C (p.Asp1354Ala) c.4781A>C (p.Asp1594Ala) c.5279A>C (p.Asp1760Ala) c.2876A>C (p.Asp959Ala) | |
2 | g.237366906C>A | CA351187808 | COL6A3 | c.4663G>T (p.Asp1555Tyr) c.5281G>T (p.Asp1761Tyr) c.3460G>T (p.Asp1154Tyr) c.4681G>T (p.Asp1561Tyr) c.4060G>T (p.Asp1354Tyr) c.4780G>T (p.Asp1594Tyr) c.5278G>T (p.Asp1760Tyr) c.2875G>T (p.Asp959Tyr) | |
2 | g.237366906C= | CA1337620953 | COL6A3 | c.4663G= (p.Asp1555=) c.5281G= (p.Asp1761=) c.3460G= (p.Asp1154=) c.4681G= (p.Asp1561=) c.4060G= (p.Asp1354=) c.4780G= (p.Asp1594=) c.5278G= (p.Asp1760=) c.2875G= (p.Asp959=) | |
2 | g.237366906C>G | CA351187809 | COL6A3 | c.4663G>C (p.Asp1555His) c.5281G>C (p.Asp1761His) c.3460G>C (p.Asp1154His) c.4681G>C (p.Asp1561His) c.4060G>C (p.Asp1354His) c.4780G>C (p.Asp1594His) c.5278G>C (p.Asp1760His) c.2875G>C (p.Asp959His) | |
2 | g.237366906C>T | CA67814393 | COL6A3 | c.4663G>A (p.Asp1555Asn) c.5281G>A (p.Asp1761Asn) c.3460G>A (p.Asp1154Asn) c.4681G>A (p.Asp1561Asn) c.4060G>A (p.Asp1354Asn) c.4780G>A (p.Asp1594Asn) c.5278G>A (p.Asp1760Asn) c.2875G>A (p.Asp959Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366907del | CA2695197704 | COL6A3 | c.4663del (p.Asp1555MetfsTer2) c.5281del (p.Asp1761MetfsTer2) c.3460del (p.Asp1154MetfsTer2) c.4681del (p.Asp1561MetfsTer2) c.4060del (p.Asp1354MetfsTer2) c.4780del (p.Asp1594MetfsTer2) c.5278del (p.Asp1760MetfsTer2) c.2875del (p.Asp959MetfsTer2) | ClinVar |
2 | g.237366907C>A | CA351187810 | COL6A3 | c.4662G>T (p.Gln1554His) c.5280G>T (p.Gln1760His) c.3459G>T (p.Gln1153His) c.4680G>T (p.Gln1560His) c.4059G>T (p.Gln1353His) c.4779G>T (p.Gln1593His) c.5277G>T (p.Gln1759His) c.2874G>T (p.Gln958His) | |
2 | g.237366907C>G | CA351187811 | COL6A3 | c.4662G>C (p.Gln1554His) c.5280G>C (p.Gln1760His) c.3459G>C (p.Gln1153His) c.4680G>C (p.Gln1560His) c.4059G>C (p.Gln1353His) c.4779G>C (p.Gln1593His) c.5277G>C (p.Gln1759His) c.2874G>C (p.Gln958His) | |
2 | g.237366907C>T | CA431711142 | COL6A3 | c.4662G>A (p.Gln1554=) c.5280G>A (p.Gln1760=) c.3459G>A (p.Gln1153=) c.4680G>A (p.Gln1560=) c.4059G>A (p.Gln1353=) c.4779G>A (p.Gln1593=) c.5277G>A (p.Gln1759=) c.2874G>A (p.Gln958=) | |
2 | g.237366908T>A | CA351187812 | COL6A3 | c.4661A>T (p.Gln1554Leu) c.5279A>T (p.Gln1760Leu) c.3458A>T (p.Gln1153Leu) c.4679A>T (p.Gln1560Leu) c.4058A>T (p.Gln1353Leu) c.4778A>T (p.Gln1593Leu) c.5276A>T (p.Gln1759Leu) c.2873A>T (p.Gln958Leu) | |
2 | g.237366908T>C | CA351187813 | COL6A3 | c.4661A>G (p.Gln1554Arg) c.5279A>G (p.Gln1760Arg) c.3458A>G (p.Gln1153Arg) c.4679A>G (p.Gln1560Arg) c.4058A>G (p.Gln1353Arg) c.4778A>G (p.Gln1593Arg) c.5276A>G (p.Gln1759Arg) c.2873A>G (p.Gln958Arg) | gnomAD v4 |
2 | g.237366908T>G | CA351187814 | COL6A3 | c.4661A>C (p.Gln1554Pro) c.5279A>C (p.Gln1760Pro) c.3458A>C (p.Gln1153Pro) c.4679A>C (p.Gln1560Pro) c.4058A>C (p.Gln1353Pro) c.4778A>C (p.Gln1593Pro) c.5276A>C (p.Gln1759Pro) c.2873A>C (p.Gln958Pro) | |
2 | g.237366909G>A | CA351187815 | COL6A3 | c.4660C>T (p.Gln1554Ter) c.5278C>T (p.Gln1760Ter) c.3457C>T (p.Gln1153Ter) c.4678C>T (p.Gln1560Ter) c.4057C>T (p.Gln1353Ter) c.4777C>T (p.Gln1593Ter) c.5275C>T (p.Gln1759Ter) c.2872C>T (p.Gln958Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366909G>C | CA351187816 | COL6A3 | c.4660C>G (p.Gln1554Glu) c.5278C>G (p.Gln1760Glu) c.3457C>G (p.Gln1153Glu) c.4678C>G (p.Gln1560Glu) c.4057C>G (p.Gln1353Glu) c.4777C>G (p.Gln1593Glu) c.5275C>G (p.Gln1759Glu) c.2872C>G (p.Gln958Glu) | |
2 | g.237366909G= | CA1337620954 | COL6A3 | c.4660C= (p.Gln1554=) c.5278C= (p.Gln1760=) c.3457C= (p.Gln1153=) c.4678C= (p.Gln1560=) c.4057C= (p.Gln1353=) c.4777C= (p.Gln1593=) c.5275C= (p.Gln1759=) c.2872C= (p.Gln958=) | |
2 | g.237366909G>T | CA351187817 | COL6A3 | c.4660C>A (p.Gln1554Lys) c.5278C>A (p.Gln1760Lys) c.3457C>A (p.Gln1153Lys) c.4678C>A (p.Gln1560Lys) c.4057C>A (p.Gln1353Lys) c.4777C>A (p.Gln1593Lys) c.5275C>A (p.Gln1759Lys) c.2872C>A (p.Gln958Lys) | |
2 | g.237366910T>A | CA431711147 | COL6A3 | c.4659A>T (p.Ala1553=) c.5277A>T (p.Ala1759=) c.3456A>T (p.Ala1152=) c.4677A>T (p.Ala1559=) c.4056A>T (p.Ala1352=) c.4776A>T (p.Ala1592=) c.5274A>T (p.Ala1758=) c.2871A>T (p.Ala957=) | |
2 | g.237366910T>C | CA2188706 | COL6A3 | c.4659A>G (p.Ala1553=) c.5277A>G (p.Ala1759=) c.3456A>G (p.Ala1152=) c.4677A>G (p.Ala1559=) c.4056A>G (p.Ala1352=) c.4776A>G (p.Ala1592=) c.5274A>G (p.Ala1758=) c.2871A>G (p.Ala957=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366910T>G | CA431711148 | COL6A3 | c.4659A>C (p.Ala1553=) c.5277A>C (p.Ala1759=) c.3456A>C (p.Ala1152=) c.4677A>C (p.Ala1559=) c.4056A>C (p.Ala1352=) c.4776A>C (p.Ala1592=) c.5274A>C (p.Ala1758=) c.2871A>C (p.Ala957=) | |
2 | g.237366910T= | CA1337620955 | COL6A3 | c.4659A= (p.Ala1553=) c.5277A= (p.Ala1759=) c.3456A= (p.Ala1152=) c.4677A= (p.Ala1559=) c.4056A= (p.Ala1352=) c.4776A= (p.Ala1592=) c.5274A= (p.Ala1758=) c.2871A= (p.Ala957=) | |
2 | g.237366911G>A | CA351187818 | COL6A3 | c.4658C>T (p.Ala1553Val) c.5276C>T (p.Ala1759Val) c.3455C>T (p.Ala1152Val) c.4676C>T (p.Ala1559Val) c.4055C>T (p.Ala1352Val) c.4775C>T (p.Ala1592Val) c.5273C>T (p.Ala1758Val) c.2870C>T (p.Ala957Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366911G>C | CA2188707 | COL6A3 | c.4658C>G (p.Ala1553Gly) c.5276C>G (p.Ala1759Gly) c.3455C>G (p.Ala1152Gly) c.4676C>G (p.Ala1559Gly) c.4055C>G (p.Ala1352Gly) c.4775C>G (p.Ala1592Gly) c.5273C>G (p.Ala1758Gly) c.2870C>G (p.Ala957Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366911G= | CA1337620956 | COL6A3 | c.4658C= (p.Ala1553=) c.5276C= (p.Ala1759=) c.3455C= (p.Ala1152=) c.4676C= (p.Ala1559=) c.4055C= (p.Ala1352=) c.4775C= (p.Ala1592=) c.5273C= (p.Ala1758=) c.2870C= (p.Ala957=) | |
2 | g.237366911G>T | CA2188708 | COL6A3 | c.4658C>A (p.Ala1553Glu) c.5276C>A (p.Ala1759Glu) c.3455C>A (p.Ala1152Glu) c.4676C>A (p.Ala1559Glu) c.4055C>A (p.Ala1352Glu) c.4775C>A (p.Ala1592Glu) c.5273C>A (p.Ala1758Glu) c.2870C>A (p.Ala957Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237366912C>A | CA351187819 | COL6A3 | c.4657G>T (p.Ala1553Ser) c.5275G>T (p.Ala1759Ser) c.3454G>T (p.Ala1152Ser) c.4675G>T (p.Ala1559Ser) c.4054G>T (p.Ala1352Ser) c.4774G>T (p.Ala1592Ser) c.5272G>T (p.Ala1758Ser) c.2869G>T (p.Ala957Ser) | |
2 | g.237366912C= | CA1337620957 | COL6A3 | c.4657G= (p.Ala1553=) c.5275G= (p.Ala1759=) c.3454G= (p.Ala1152=) c.4675G= (p.Ala1559=) c.4054G= (p.Ala1352=) c.4774G= (p.Ala1592=) c.5272G= (p.Ala1758=) c.2869G= (p.Ala957=) | |
2 | g.237366912C>G | CA351187820 | COL6A3 | c.4657G>C (p.Ala1553Pro) c.5275G>C (p.Ala1759Pro) c.3454G>C (p.Ala1152Pro) c.4675G>C (p.Ala1559Pro) c.4054G>C (p.Ala1352Pro) c.4774G>C (p.Ala1592Pro) c.5272G>C (p.Ala1758Pro) c.2869G>C (p.Ala957Pro) | |
2 | g.237366912C>T | CA351187821 | COL6A3 | c.4657G>A (p.Ala1553Thr) c.5275G>A (p.Ala1759Thr) c.3454G>A (p.Ala1152Thr) c.4675G>A (p.Ala1559Thr) c.4054G>A (p.Ala1352Thr) c.4774G>A (p.Ala1592Thr) c.5272G>A (p.Ala1758Thr) c.2869G>A (p.Ala957Thr) | dbSNP gnomAD v4 |
2 | g.237366913A= | CA1337620958 | COL6A3 | c.4656T= (p.Asp1552=) c.5274T= (p.Asp1758=) c.3453T= (p.Asp1151=) c.4674T= (p.Asp1558=) c.4053T= (p.Asp1351=) c.4773T= (p.Asp1591=) c.5271T= (p.Asp1757=) c.2868T= (p.Asp956=) | |
2 | g.237366913A>C | CA67814403 | COL6A3 | c.4656T>G (p.Asp1552Glu) c.5274T>G (p.Asp1758Glu) c.3453T>G (p.Asp1151Glu) c.4674T>G (p.Asp1558Glu) c.4053T>G (p.Asp1351Glu) c.4773T>G (p.Asp1591Glu) c.5271T>G (p.Asp1757Glu) c.2868T>G (p.Asp956Glu) | dbSNP gnomAD v4 |
2 | g.237366913A>G | CA431711155 | COL6A3 | c.4656T>C (p.Asp1552=) c.5274T>C (p.Asp1758=) c.3453T>C (p.Asp1151=) c.4674T>C (p.Asp1558=) c.4053T>C (p.Asp1351=) c.4773T>C (p.Asp1591=) c.5271T>C (p.Asp1757=) c.2868T>C (p.Asp956=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237366913A>T | CA351187822 | COL6A3 | c.4656T>A (p.Asp1552Glu) c.5274T>A (p.Asp1758Glu) c.3453T>A (p.Asp1151Glu) c.4674T>A (p.Asp1558Glu) c.4053T>A (p.Asp1351Glu) c.4773T>A (p.Asp1591Glu) c.5271T>A (p.Asp1757Glu) c.2868T>A (p.Asp956Glu) | gnomAD v4 |
2 | g.237366914T>A | CA351187823 | COL6A3 | c.4655A>T (p.Asp1552Val) c.5273A>T (p.Asp1758Val) c.3452A>T (p.Asp1151Val) c.4673A>T (p.Asp1558Val) c.4052A>T (p.Asp1351Val) c.4772A>T (p.Asp1591Val) c.5270A>T (p.Asp1757Val) c.2867A>T (p.Asp956Val) | |
2 | g.237366914T>C | CA351187824 | COL6A3 | c.4655A>G (p.Asp1552Gly) c.5273A>G (p.Asp1758Gly) c.3452A>G (p.Asp1151Gly) c.4673A>G (p.Asp1558Gly) c.4052A>G (p.Asp1351Gly) c.4772A>G (p.Asp1591Gly) c.5270A>G (p.Asp1757Gly) c.2867A>G (p.Asp956Gly) | |
2 | g.237366914T>G | CA351187825 | COL6A3 | c.4655A>C (p.Asp1552Ala) c.5273A>C (p.Asp1758Ala) c.3452A>C (p.Asp1151Ala) c.4673A>C (p.Asp1558Ala) c.4052A>C (p.Asp1351Ala) c.4772A>C (p.Asp1591Ala) c.5270A>C (p.Asp1757Ala) c.2867A>C (p.Asp956Ala) | |
2 | g.237366915C>A | CA351187826 | COL6A3 | c.4654G>T (p.Asp1552Tyr) c.5272G>T (p.Asp1758Tyr) c.3451G>T (p.Asp1151Tyr) c.4672G>T (p.Asp1558Tyr) c.4051G>T (p.Asp1351Tyr) c.4771G>T (p.Asp1591Tyr) c.5269G>T (p.Asp1757Tyr) c.2866G>T (p.Asp956Tyr) | |
2 | g.237366915C= | CA1337620959 | COL6A3 | c.4654G= (p.Asp1552=) c.5272G= (p.Asp1758=) c.3451G= (p.Asp1151=) c.4672G= (p.Asp1558=) c.4051G= (p.Asp1351=) c.4771G= (p.Asp1591=) c.5269G= (p.Asp1757=) c.2866G= (p.Asp956=) | |
2 | g.237366915C>G | CA351187827 | COL6A3 | c.4654G>C (p.Asp1552His) c.5272G>C (p.Asp1758His) c.3451G>C (p.Asp1151His) c.4672G>C (p.Asp1558His) c.4051G>C (p.Asp1351His) c.4771G>C (p.Asp1591His) c.5269G>C (p.Asp1757His) c.2866G>C (p.Asp956His) | |
2 | g.237366915C>T | CA2188709 | COL6A3 | c.4654G>A (p.Asp1552Asn) c.5272G>A (p.Asp1758Asn) c.3451G>A (p.Asp1151Asn) c.4672G>A (p.Asp1558Asn) c.4051G>A (p.Asp1351Asn) c.4771G>A (p.Asp1591Asn) c.5269G>A (p.Asp1757Asn) c.2866G>A (p.Asp956Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237366916T>A | CA351187828 | COL6A3 | c.4653A>T (p.Glu1551Asp) c.5271A>T (p.Glu1757Asp) c.3450A>T (p.Glu1150Asp) c.4671A>T (p.Glu1557Asp) c.4050A>T (p.Glu1350Asp) c.4770A>T (p.Glu1590Asp) c.5268A>T (p.Glu1756Asp) c.2865A>T (p.Glu955Asp) | |
2 | g.237366916T>C | CA431710624 | COL6A3 | c.4653A>G (p.Glu1551=) c.5271A>G (p.Glu1757=) c.3450A>G (p.Glu1150=) c.4671A>G (p.Glu1557=) c.4050A>G (p.Glu1350=) c.4770A>G (p.Glu1590=) c.5268A>G (p.Glu1756=) c.2865A>G (p.Glu955=) | |
2 | g.237366916T>G | CA351187829 | COL6A3 | c.4653A>C (p.Glu1551Asp) c.5271A>C (p.Glu1757Asp) c.3450A>C (p.Glu1150Asp) c.4671A>C (p.Glu1557Asp) c.4050A>C (p.Glu1350Asp) c.4770A>C (p.Glu1590Asp) c.5268A>C (p.Glu1756Asp) c.2865A>C (p.Glu955Asp) | gnomAD v4 |
2 | g.237366917T>A | CA351187830 | COL6A3 | c.4652A>T (p.Glu1551Val) c.5270A>T (p.Glu1757Val) c.3449A>T (p.Glu1150Val) c.4670A>T (p.Glu1557Val) c.4049A>T (p.Glu1350Val) c.4769A>T (p.Glu1590Val) c.5267A>T (p.Glu1756Val) c.2864A>T (p.Glu955Val) | |
2 | g.237366917T>C | CA351187831 | COL6A3 | c.4652A>G (p.Glu1551Gly) c.5270A>G (p.Glu1757Gly) c.3449A>G (p.Glu1150Gly) c.4670A>G (p.Glu1557Gly) c.4049A>G (p.Glu1350Gly) c.4769A>G (p.Glu1590Gly) c.5267A>G (p.Glu1756Gly) c.2864A>G (p.Glu955Gly) | gnomAD v4 |
2 | g.237366917T>G | CA351187832 | COL6A3 | c.4652A>C (p.Glu1551Ala) c.5270A>C (p.Glu1757Ala) c.3449A>C (p.Glu1150Ala) c.4670A>C (p.Glu1557Ala) c.4049A>C (p.Glu1350Ala) c.4769A>C (p.Glu1590Ala) c.5267A>C (p.Glu1756Ala) c.2864A>C (p.Glu955Ala) | |
2 | g.237366918C>A | CA351187835 | COL6A3 | c.4651G>T (p.Glu1551Ter) c.5269G>T (p.Glu1757Ter) c.3448G>T (p.Glu1150Ter) c.4669G>T (p.Glu1557Ter) c.4048G>T (p.Glu1350Ter) c.4768G>T (p.Glu1590Ter) c.5266G>T (p.Glu1756Ter) c.2863G>T (p.Glu955Ter) | |
2 | g.237366918C= | CA1337620960 | COL6A3 | c.4651G= (p.Glu1551=) c.5269G= (p.Glu1757=) c.3448G= (p.Glu1150=) c.4669G= (p.Glu1557=) c.4048G= (p.Glu1350=) c.4768G= (p.Glu1590=) c.5266G= (p.Glu1756=) c.2863G= (p.Glu955=) | |
2 | g.237366918C>G | CA351187834 | COL6A3 | c.4651G>C (p.Glu1551Gln) c.5269G>C (p.Glu1757Gln) c.3448G>C (p.Glu1150Gln) c.4669G>C (p.Glu1557Gln) c.4048G>C (p.Glu1350Gln) c.4768G>C (p.Glu1590Gln) c.5266G>C (p.Glu1756Gln) c.2863G>C (p.Glu955Gln) | ClinVar |
2 | g.237366918C>T | CA351187833 | COL6A3 | c.4651G>A (p.Glu1551Lys) c.5269G>A (p.Glu1757Lys) c.3448G>A (p.Glu1150Lys) c.4669G>A (p.Glu1557Lys) c.4048G>A (p.Glu1350Lys) c.4768G>A (p.Glu1590Lys) c.5266G>A (p.Glu1756Lys) c.2863G>A (p.Glu955Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |