Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.19999538_20008463dup | CA2580611595 | MATN3 | c.224-2153_1168+903dup c.224-2153_1042+903dup | |
2 | g.20005853C>A | CA345950593 | MATN3 | c.681G>T (p.Met227Ile) | |
2 | g.20005853C>G | CA345950594 | MATN3 | c.681G>C (p.Met227Ile) | |
2 | g.20005853C>T | CA345950595 | MATN3 | c.681G>A (p.Met227Ile) | gnomAD v4 |
2 | g.20005854A= | CA2493007859 | MATN3 | c.680T= (p.Met227=) | |
2 | g.20005854A>C | CA345950596 | MATN3 | c.680T>G (p.Met227Arg) | |
2 | g.20005854A>G | CA345950597 | MATN3 | c.680T>C (p.Met227Thr) | dbSNP |
2 | g.20005854A>T | CA345950598 | MATN3 | c.680T>A (p.Met227Lys) | |
2 | g.20005855T>A | CA345950599 | MATN3 | c.679A>T (p.Met227Leu) | |
2 | g.20005855T>C | CA345950600 | MATN3 | c.679A>G (p.Met227Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005855T>G | CA345950601 | MATN3 | c.679A>C (p.Met227Leu) | |
2 | g.20005855T= | CA2493007860 | MATN3 | c.679A= (p.Met227=) | |
2 | g.20005856G>A | CA425340961 | MATN3 | c.678C>T (p.Asp226=) | gnomAD v4 |
2 | g.20005856G>C | CA345950602 | MATN3 | c.678C>G (p.Asp226Glu) | |
2 | g.20005856G= | CA2493007861 | MATN3 | c.678C= (p.Asp226=) | |
2 | g.20005856G>T | CA345950603 | MATN3 | c.678C>A (p.Asp226Glu) | dbSNP |
2 | g.20005857T>A | CA345950604 | MATN3 | c.677A>T (p.Asp226Val) | |
2 | g.20005857T>C | CA345950605 | MATN3 | c.677A>G (p.Asp226Gly) | |
2 | g.20005857T>G | CA345950606 | MATN3 | c.677A>C (p.Asp226Ala) | |
2 | g.20005858C>A | CA345950607 | MATN3 | c.676G>T (p.Asp226Tyr) | |
2 | g.20005858C>G | CA345950608 | MATN3 | c.676G>C (p.Asp226His) | |
2 | g.20005858C>T | CA345950609 | MATN3 | c.676G>A (p.Asp226Asn) | gnomAD v4 |
2 | g.20005859T>A | CA425340966 | MATN3 | c.675A>T (p.Ala225=) | |
2 | g.20005859T>C | CA425340967 | MATN3 | c.675A>G (p.Ala225=) | |
2 | g.20005859T>G | CA425340968 | MATN3 | c.675A>C (p.Ala225=) | |
2 | g.20005860G>A | CA345950610 | MATN3 | c.674C>T (p.Ala225Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.20005860G>C | CA345950611 | MATN3 | c.674C>G (p.Ala225Gly) | |
2 | g.20005860G= | CA2493007862 | MATN3 | c.674C= (p.Ala225=) | |
2 | g.20005860G>T | CA345950612 | MATN3 | c.674C>A (p.Ala225Glu) | gnomAD v4 |
2 | g.20005861C>A | CA345950613 | MATN3 | c.673G>T (p.Ala225Ser) | |
2 | g.20005861C>G | CA345950614 | MATN3 | c.673G>C (p.Ala225Pro) | |
2 | g.20005861C>T | CA345950615 | MATN3 | c.673G>A (p.Ala225Thr) | |
2 | g.20005862C>A | CA425340972 | MATN3 | c.672G>T (p.Arg224=) | gnomAD v4 |
2 | g.20005862C= | CA2493007863 | MATN3 | c.672G= (p.Arg224=) | |
2 | g.20005862C>G | CA425340971 | MATN3 | c.672G>C (p.Arg224=) | dbSNP |
2 | g.20005862C>T | CA425340970 | MATN3 | c.672G>A (p.Arg224=) | dbSNP |
2 | g.20005863C>A | CA345950616 | MATN3 | c.671G>T (p.Arg224Leu) | ClinVar gnomAD v4 |
2 | g.20005863C= | CA2493007864 | MATN3 | c.671G= (p.Arg224=) | |
2 | g.20005863C>G | CA345950617 | MATN3 | c.671G>C (p.Arg224Pro) | gnomAD v4 |
2 | g.20005863C>T | CA1543926 | MATN3 | c.671G>A (p.Arg224Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.20005864G>A | CA1543927 | MATN3 | c.670C>T (p.Arg224Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005864G>C | CA345950618 | MATN3 | c.670C>G (p.Arg224Gly) | |
2 | g.20005864G= | CA2493007865 | MATN3 | c.670C= (p.Arg224=) | |
2 | g.20005864G>T | CA425340974 | MATN3 | c.670C>A (p.Arg224=) | |
2 | g.20005865G>A | CA425340977 | MATN3 | c.669C>T (p.Asp223=) | |
2 | g.20005865G>C | CA345950619 | MATN3 | c.669C>G (p.Asp223Glu) | |
2 | g.20005865G>T | CA345950620 | MATN3 | c.669C>A (p.Asp223Glu) | |
2 | g.20005866T>A | CA345950623 | MATN3 | c.668A>T (p.Asp223Val) | |
2 | g.20005866T>C | CA345950622 | MATN3 | c.668A>G (p.Asp223Gly) | dbSNP |
2 | g.20005866T>G | CA345950621 | MATN3 | c.668A>C (p.Asp223Ala) | |
2 | g.20005866T= | CA2493007866 | MATN3 | c.668A= (p.Asp223=) | |
2 | g.20005867C>A | CA345950624 | MATN3 | c.667G>T (p.Asp223Tyr) | |
2 | g.20005867C= | CA2493007867 | MATN3 | c.667G= (p.Asp223=) | |
2 | g.20005867C>G | CA345950625 | MATN3 | c.667G>C (p.Asp223His) | gnomAD v4 |
2 | g.20005867C>T | CA345950626 | MATN3 | c.667G>A (p.Asp223Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005868C>A | CA425340979 | MATN3 | c.666G>T (p.Val222=) | |
2 | g.20005868C= | CA2493007868 | MATN3 | c.666G= (p.Val222=) | |
2 | g.20005868C>G | CA425340983 | MATN3 | c.666G>C (p.Val222=) | |
2 | g.20005868C>T | CA425340981 | MATN3 | c.666G>A (p.Val222=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.20005869A>C | CA345950627 | MATN3 | c.665T>G (p.Val222Gly) | |
2 | g.20005869A>G | CA345950628 | MATN3 | c.665T>C (p.Val222Ala) | |
2 | g.20005869A>T | CA345950629 | MATN3 | c.665T>A (p.Val222Glu) | |
2 | g.20005870C>A | CA345950631 | MATN3 | c.664G>T (p.Val222Leu) | |
2 | g.20005870C= | CA2493007869 | MATN3 | c.664G= (p.Val222=) | |
2 | g.20005870C>G | CA345950630 | MATN3 | c.664G>C (p.Val222Leu) | gnomAD v4 |
2 | g.20005870C>T | CA1543928 | MATN3 | c.664G>A (p.Val222Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005871G>A | CA1543929 | MATN3 | c.663C>T (p.Gly221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005871G>C | CA425340987 | MATN3 | c.663C>G (p.Gly221=) | |
2 | g.20005871G= | CA2493007870 | MATN3 | c.663C= (p.Gly221=) | |
2 | g.20005871G>T | CA425340989 | MATN3 | c.663C>A (p.Gly221=) | |
2 | g.20005872C>A | CA345950632 | MATN3 | c.662G>T (p.Gly221Val) | dbSNP |
2 | g.20005872C= | CA2493007871 | MATN3 | c.662G= (p.Gly221=) | |
2 | g.20005872C>G | CA345950633 | MATN3 | c.662G>C (p.Gly221Ala) | |
2 | g.20005872C>T | CA345950634 | MATN3 | c.662G>A (p.Gly221Asp) | |
2 | g.20005873C>A | CA345950635 | MATN3 | c.661G>T (p.Gly221Cys) | |
2 | g.20005873C= | CA2493007872 | MATN3 | c.661G= (p.Gly221=) | |
2 | g.20005873C>G | CA345950636 | MATN3 | c.661G>C (p.Gly221Arg) | |
2 | g.20005873C>T | CA345950637 | MATN3 | c.661G>A (p.Gly221Ser) | dbSNP gnomAD v2 |
2 | g.20005874C>A | CA425340991 | MATN3 | c.660G>T (p.Val220=) | |
2 | g.20005874C>G | CA425340993 | MATN3 | c.660G>C (p.Val220=) | |
2 | g.20005874C>T | CA425340994 | MATN3 | c.660G>A (p.Val220=) | |
2 | g.20005875A= | CA2493007873 | MATN3 | c.659T= (p.Val220=) | |
2 | g.20005875A>C | CA345950639 | MATN3 | c.659T>G (p.Val220Gly) | |
2 | g.20005875A>G | CA1543930 | MATN3 | c.659T>C (p.Val220Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005875A>T | CA345950638 | MATN3 | c.659T>A (p.Val220Glu) | |
2 | g.20005876C>A | CA345950640 | MATN3 | c.658G>T (p.Val220Leu) | |
2 | g.20005876C= | CA2493007874 | MATN3 | c.658G= (p.Val220=) | |
2 | g.20005876C>G | CA345950641 | MATN3 | c.658G>C (p.Val220Leu) | |
2 | g.20005876C>T | CA1543931 | MATN3 | c.658G>A (p.Val220Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005877A>C | CA425340995 | MATN3 | c.657T>G (p.Ala219=) | |
2 | g.20005877A>G | CA425340997 | MATN3 | c.657T>C (p.Ala219=) | |
2 | g.20005877A>T | CA425340998 | MATN3 | c.657T>A (p.Ala219=) | COSMIC |
2 | g.20005878G>A | CA345950642 | MATN3 | c.656C>T (p.Ala219Val) | dbSNP |
2 | g.20005878G>C | CA345950643 | MATN3 | c.656C>G (p.Ala219Gly) | |
2 | g.20005878G= | CA2493007875 | MATN3 | c.656C= (p.Ala219=) | |
2 | g.20005878G>T | CA254203 | MATN3 | c.656C>A (p.Ala219Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005879C>A | CA345950644 | MATN3 | c.655G>T (p.Ala219Ser) | |
2 | g.20005879C>G | CA345950646 | MATN3 | c.655G>C (p.Ala219Pro) | |
2 | g.20005879C>T | CA345950645 | MATN3 | c.655G>A (p.Ala219Thr) | |
2 | g.20005880A= | CA2493007876 | MATN3 | c.654T= (p.Tyr218=) | |
2 | g.20005880A>C | CA345950647 | MATN3 | c.654T>G (p.Tyr218Ter) | |
2 | g.20005880A>G | CA1543932 | MATN3 | c.654T>C (p.Tyr218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005880A>T | CA345950648 | MATN3 | c.654T>A (p.Tyr218Ter) | |
2 | g.20005881T>A | CA345950649 | MATN3 | c.653A>T (p.Tyr218Phe) | |
2 | g.20005881T>C | CA345950650 | MATN3 | c.653A>G (p.Tyr218Cys) | ClinVar dbSNP |
2 | g.20005881T>G | CA345950651 | MATN3 | c.653A>C (p.Tyr218Ser) | |
2 | g.20005881T= | CA2493007877 | MATN3 | c.653A= (p.Tyr218=) | |
2 | g.20005882A>C | CA345950652 | MATN3 | c.652T>G (p.Tyr218Asp) | gnomAD v4 |
2 | g.20005882A>G | CA345950653 | MATN3 | c.652T>C (p.Tyr218His) | gnomAD v4 |
2 | g.20005882A>T | CA345950654 | MATN3 | c.652T>A (p.Tyr218Asn) | ClinVar dbSNP |
2 | g.20005883G>A | CA1543933 | MATN3 | c.651C>T (p.Leu217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005883G>C | CA425341006 | MATN3 | c.651C>G (p.Leu217=) | |
2 | g.20005883G= | CA2493007878 | MATN3 | c.651C= (p.Leu217=) | |
2 | g.20005883G>T | CA425341007 | MATN3 | c.651C>A (p.Leu217=) | |
2 | g.20005883_20005884delinsTT | CA2739274136 | MATN3 | c.650_651delinsAA (p.Leu217Gln) | ClinVar |
2 | g.20005884A>C | CA345950655 | MATN3 | c.650T>G (p.Leu217Arg) | |
2 | g.20005884A>G | CA345950656 | MATN3 | c.650T>C (p.Leu217Pro) | |
2 | g.20005884A>T | CA345950657 | MATN3 | c.650T>A (p.Leu217His) | |
2 | g.20005885G>A | CA345950658 | MATN3 | c.649C>T (p.Leu217Phe) | |
2 | g.20005885G>C | CA345950660 | MATN3 | c.649C>G (p.Leu217Val) | gnomAD v4 |
2 | g.20005885G>T | CA345950659 | MATN3 | c.649C>A (p.Leu217Ile) | |
2 | g.20005886C>A | CA345950661 | MATN3 | c.648G>T (p.Glu216Asp) | COSMIC |
2 | g.20005886C>G | CA345950662 | MATN3 | c.648G>C (p.Glu216Asp) | |
2 | g.20005886C>T | CA425341012 | MATN3 | c.648G>A (p.Glu216=) | |
2 | g.20005887T>A | CA345950663 | MATN3 | c.647A>T (p.Glu216Val) | |
2 | g.20005887T>C | CA345950664 | MATN3 | c.647A>G (p.Glu216Gly) | dbSNP |
2 | g.20005887T>G | CA345950665 | MATN3 | c.647A>C (p.Glu216Ala) | |
2 | g.20005888C>A | CA345950666 | MATN3 | c.646G>T (p.Glu216Ter) | |
2 | g.20005888C= | CA2493007879 | MATN3 | c.646G= (p.Glu216=) | |
2 | g.20005888C>G | CA345950667 | MATN3 | c.646G>C (p.Glu216Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005888C>T | CA345950668 | MATN3 | c.646G>A (p.Glu216Lys) | |
2 | g.20005889A>C | CA345950669 | MATN3 | c.645T>G (p.Ile215Met) | ClinVar dbSNP gnomAD v4 |
2 | g.20005889A>G | CA425341016 | MATN3 | c.645T>C (p.Ile215=) | |
2 | g.20005889A>T | CA425341015 | MATN3 | c.645T>A (p.Ile215=) | |
2 | g.20005890A= | CA2493007880 | MATN3 | c.644T= (p.Ile215=) | |
2 | g.20005890A>C | CA345950670 | MATN3 | c.644T>G (p.Ile215Ser) | |
2 | g.20005890A>G | CA345950671 | MATN3 | c.644T>C (p.Ile215Thr) | |
2 | g.20005890A>T | CA345950672 | MATN3 | c.644T>A (p.Ile215Asn) | dbSNP |
2 | g.20005891T>A | CA345950674 | MATN3 | c.643A>T (p.Ile215Phe) | |
2 | g.20005891T>C | CA345950675 | MATN3 | c.643A>G (p.Ile215Val) | |
2 | g.20005891T>G | CA345950673 | MATN3 | c.643A>C (p.Ile215Leu) | |
2 | g.20005891dup | CA2580064968 | MATN3 | c.643dup (p.Ile215AsnfsTer2) | ClinVar |
2 | g.20005892A>C | CA425341020 | MATN3 | c.642T>G (p.Gly214=) | gnomAD v4 |
2 | g.20005892A>G | CA425341022 | MATN3 | c.642T>C (p.Gly214=) | |
2 | g.20005892A>T | CA425341023 | MATN3 | c.642T>A (p.Gly214=) | |
2 | g.20005893C>A | CA345950676 | MATN3 | c.641G>T (p.Gly214Val) | ClinVar |
2 | g.20005893C= | CA2493007881 | MATN3 | c.641G= (p.Gly214=) | |
2 | g.20005893C>G | CA1543934 | MATN3 | c.641G>C (p.Gly214Ala) | dbSNP ExAC gnomAD v2 |
2 | g.20005893C>T | CA345950677 | MATN3 | c.641G>A (p.Gly214Asp) | |
2 | g.20005894C>A | CA345950678 | MATN3 | c.640G>T (p.Gly214Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005894C= | CA2493007882 | MATN3 | c.640G= (p.Gly214=) | |
2 | g.20005894C>G | CA345950679 | MATN3 | c.640G>C (p.Gly214Arg) | |
2 | g.20005894C>T | CA345950680 | MATN3 | c.640G>A (p.Gly214Ser) | gnomAD v4 |
2 | g.20005895A>C | CA425341026 | MATN3 | c.639T>G (p.Ser213=) | |
2 | g.20005895A>G | CA425341028 | MATN3 | c.639T>C (p.Ser213=) | gnomAD v4 |
2 | g.20005895A>T | CA425341027 | MATN3 | c.639T>A (p.Ser213=) | |
2 | g.20005896G>A | CA345950681 | MATN3 | c.638C>T (p.Ser213Phe) | |
2 | g.20005896G>C | CA345950683 | MATN3 | c.638C>G (p.Ser213Cys) | |
2 | g.20005896G>T | CA345950682 | MATN3 | c.638C>A (p.Ser213Tyr) | |
2 | g.20005897A>C | CA345950684 | MATN3 | c.637T>G (p.Ser213Ala) | |
2 | g.20005897A>G | CA345950685 | MATN3 | c.637T>C (p.Ser213Pro) | |
2 | g.20005897A>T | CA345950686 | MATN3 | c.637T>A (p.Ser213Thr) | |
2 | g.20005898T>A | CA425341032 | MATN3 | c.636A>T (p.Ala212=) | |
2 | g.20005898T>C | CA1543935 | MATN3 | c.636A>G (p.Ala212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005898T>G | CA425341033 | MATN3 | c.636A>C (p.Ala212=) | |
2 | g.20005898T= | CA2493007883 | MATN3 | c.636A= (p.Ala212=) | |
2 | g.20005899G>A | CA345950687 | MATN3 | c.635C>T (p.Ala212Val) | gnomAD v4 |
2 | g.20005899G>C | CA345950689 | MATN3 | c.635C>G (p.Ala212Gly) | |
2 | g.20005899G>T | CA345950688 | MATN3 | c.635C>A (p.Ala212Glu) | gnomAD v4 |
2 | g.20005900C>A | CA345950690 | MATN3 | c.634G>T (p.Ala212Ser) | COSMIC |
2 | g.20005900C>G | CA345950692 | MATN3 | c.634G>C (p.Ala212Pro) | |
2 | g.20005900C>T | CA345950691 | MATN3 | c.634G>A (p.Ala212Thr) | |
2 | g.20005900_20005901insGA | CA2576684693 | MATN3 | c.633_634insTC (p.Ala212SerfsTer22) | |
2 | g.20005901T>A | CA345950693 | MATN3 | c.633A>T (p.Gln211His) | gnomAD v4 |
2 | g.20005901T>C | CA425341037 | MATN3 | c.633A>G (p.Gln211=) | |
2 | g.20005901T>G | CA345950694 | MATN3 | c.633A>C (p.Gln211His) | |
2 | g.20005902T>A | CA345950695 | MATN3 | c.632A>T (p.Gln211Leu) | |
2 | g.20005902T>C | CA345950696 | MATN3 | c.632A>G (p.Gln211Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005902T>G | CA345950697 | MATN3 | c.632A>C (p.Gln211Pro) | |
2 | g.20005902T= | CA2493007884 | MATN3 | c.632A= (p.Gln211=) | |
2 | g.20005903G>A | CA345950698 | MATN3 | c.631C>T (p.Gln211Ter) | |
2 | g.20005903G>C | CA345950699 | MATN3 | c.631C>G (p.Gln211Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005903G= | CA2493007885 | MATN3 | c.631C= (p.Gln211=) | |
2 | g.20005903G>T | CA345950700 | MATN3 | c.631C>A (p.Gln211Lys) | |
2 | g.20005904G>A | CA425341041 | MATN3 | c.630C>T (p.Ala210=) | gnomAD v4 |
2 | g.20005904G>C | CA43403684 | MATN3 | c.630C>G (p.Ala210=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005904G= | CA2493007886 | MATN3 | c.630C= (p.Ala210=) | |
2 | g.20005904G>T | CA425341042 | MATN3 | c.630C>A (p.Ala210=) | |
2 | g.20005905G>A | CA345950701 | MATN3 | c.629C>T (p.Ala210Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005905G>C | CA345950702 | MATN3 | c.629C>G (p.Ala210Gly) | |
2 | g.20005905G= | CA2493007887 | MATN3 | c.629C= (p.Ala210=) | |
2 | g.20005905G>T | CA345950703 | MATN3 | c.629C>A (p.Ala210Asp) | |
2 | g.20005906C>A | CA345950705 | MATN3 | c.628G>T (p.Ala210Ser) | gnomAD v4 |
2 | g.20005906C>G | CA501072 | MATN3 | c.628G>C (p.Ala210Pro) | gnomAD v4 |
2 | g.20005906C>T | CA345950704 | MATN3 | c.628G>A (p.Ala210Thr) | |
2 | g.20005907C>A | CA425341044 | MATN3 | c.627G>T (p.Arg209=) | |
2 | g.20005907C= | CA2493007888 | MATN3 | c.627G= (p.Arg209=) | |
2 | g.20005907C>G | CA1543936 | MATN3 | c.627G>C (p.Arg209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005907C>T | CA425341045 | MATN3 | c.627G>A (p.Arg209=) | |
2 | g.20005908C>A | CA345950706 | MATN3 | c.626G>T (p.Arg209Leu) | gnomAD v4 |
2 | g.20005908C= | CA2493007889 | MATN3 | c.626G= (p.Arg209=) | |
2 | g.20005908C>G | CA1543937 | MATN3 | c.626G>C (p.Arg209Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005908C>T | CA1543938 | MATN3 | c.626G>A (p.Arg209Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005909G>A | CA1543940 | MATN3 | c.625C>T (p.Arg209Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005909G>C | CA345950707 | MATN3 | c.625C>G (p.Arg209Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005909G= | CA2493007890 | MATN3 | c.625C= (p.Arg209=) | |
2 | g.20005909G>T | CA1543939 | MATN3 | c.625C>A (p.Arg209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005910A>C | CA425341050 | MATN3 | c.624T>G (p.Ala208=) | |
2 | g.20005910A>G | CA425341048 | MATN3 | c.624T>C (p.Ala208=) | |
2 | g.20005910A>T | CA425341049 | MATN3 | c.624T>A (p.Ala208=) | |
2 | g.20005910_20005913dup | CA2658010944 | MATN3 | c.621_624dup (p.Arg209GlyfsTer9) | ClinVar gnomAD v4 |
2 | g.20005911G>A | CA345950708 | MATN3 | c.623C>T (p.Ala208Val) | dbSNP gnomAD v4 |
2 | g.20005911G>C | CA345950709 | MATN3 | c.623C>G (p.Ala208Gly) | dbSNP |
2 | g.20005911G= | CA2493007891 | MATN3 | c.623C= (p.Ala208=) | |
2 | g.20005911G>T | CA345950710 | MATN3 | c.623C>A (p.Ala208Asp) | |
2 | g.20005912C>A | CA345950711 | MATN3 | c.622G>T (p.Ala208Ser) | COSMIC |
2 | g.20005912C= | CA2493007892 | MATN3 | c.622G= (p.Ala208=) | |
2 | g.20005912C>G | CA345950712 | MATN3 | c.622G>C (p.Ala208Pro) | dbSNP |
2 | g.20005912C>T | CA345950713 | MATN3 | c.622G>A (p.Ala208Thr) | dbSNP gnomAD v2 |
2 | g.20005913C>A | CA425341053 | MATN3 | c.621G>T (p.Ala207=) | gnomAD v4 |
2 | g.20005913C= | CA2493007893 | MATN3 | c.621G= (p.Ala207=) | |
2 | g.20005913C>G | CA425341054 | MATN3 | c.621G>C (p.Ala207=) | |
2 | g.20005913C>T | CA1543941 | MATN3 | c.621G>A (p.Ala207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005914G>A | CA1543942 | MATN3 | c.620C>T (p.Ala207Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005914G>C | CA345950714 | MATN3 | c.620C>G (p.Ala207Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005914G= | CA2493007894 | MATN3 | c.620C= (p.Ala207=) | |
2 | g.20005914G>T | CA345950715 | MATN3 | c.620C>A (p.Ala207Glu) | |
2 | g.20005915C>A | CA345950716 | MATN3 | c.619G>T (p.Ala207Ser) | |
2 | g.20005915C= | CA2493007895 | MATN3 | c.619G= (p.Ala207=) | |
2 | g.20005915C>G | CA345950717 | MATN3 | c.619G>C (p.Ala207Pro) | |
2 | g.20005915C>T | CA345950718 | MATN3 | c.619G>A (p.Ala207Thr) | dbSNP gnomAD v2 |
2 | g.20005916C>A | CA425341058 | MATN3 | c.618G>T (p.Val206=) | |
2 | g.20005916C>G | CA425341059 | MATN3 | c.618G>C (p.Val206=) | |
2 | g.20005916C>T | CA425341060 | MATN3 | c.618G>A (p.Val206=) | |
2 | g.20005917A>C | CA345950721 | MATN3 | c.617T>G (p.Val206Gly) | |
2 | g.20005917A>G | CA345950720 | MATN3 | c.617T>C (p.Val206Ala) | |
2 | g.20005917A>T | CA345950719 | MATN3 | c.617T>A (p.Val206Glu) | |
2 | g.20005918C>A | CA345950722 | MATN3 | c.616G>T (p.Val206Leu) | |
2 | g.20005918C>G | CA345950723 | MATN3 | c.616G>C (p.Val206Leu) | |
2 | g.20005918C>T | CA345950724 | MATN3 | c.616G>A (p.Val206Met) | |
2 | g.20005919C>A | CA345950725 | MATN3 | c.615G>T (p.Glu205Asp) | dbSNP |
2 | g.20005919C= | CA1630834300 | MATN3 | c.615G= (p.Glu205=) | |
2 | g.20005919C>G | CA345950726 | MATN3 | c.615G>C (p.Glu205Asp) | dbSNP |
2 | g.20005919C>T | CA201612 | MATN3 | c.615G>A (p.Glu205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005920T>A | CA345950727 | MATN3 | c.614A>T (p.Glu205Val) | |
2 | g.20005920T>C | CA345950729 | MATN3 | c.614A>G (p.Glu205Gly) | |
2 | g.20005920T>G | CA345950728 | MATN3 | c.614A>C (p.Glu205Ala) | |
2 | g.20005921C>A | CA1543943 | MATN3 | c.613G>T (p.Glu205Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005921C= | CA2493007896 | MATN3 | c.613G= (p.Glu205=) | |
2 | g.20005921C>G | CA345950730 | MATN3 | c.613G>C (p.Glu205Gln) | |
2 | g.20005921C>T | CA345950731 | MATN3 | c.613G>A (p.Glu205Lys) | gnomAD v4 |
2 | g.20005922A= | CA2493007897 | MATN3 | c.612T= (p.Asn204=) | |
2 | g.20005922A>C | CA345950732 | MATN3 | c.612T>G (p.Asn204Lys) | |
2 | g.20005922A>G | CA425341065 | MATN3 | c.612T>C (p.Asn204=) | |
2 | g.20005922A>T | CA345950733 | MATN3 | c.612T>A (p.Asn204Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005923T>A | CA345950734 | MATN3 | c.611A>T (p.Asn204Ile) | |
2 | g.20005923T>C | CA345950735 | MATN3 | c.611A>G (p.Asn204Ser) | gnomAD v4 |
2 | g.20005923T>G | CA345950736 | MATN3 | c.611A>C (p.Asn204Thr) | |
2 | g.20005924T>A | CA345950737 | MATN3 | c.610A>T (p.Asn204Tyr) | |
2 | g.20005924T>C | CA345950738 | MATN3 | c.610A>G (p.Asn204Asp) | |
2 | g.20005924T>G | CA345950739 | MATN3 | c.610A>C (p.Asn204His) | |
2 | g.20005925C>A | CA425341066 | MATN3 | c.609G>T (p.Val203=) | |
2 | g.20005925C>G | CA425341067 | MATN3 | c.609G>C (p.Val203=) | |
2 | g.20005925C>T | CA425341068 | MATN3 | c.609G>A (p.Val203=) | |
2 | g.20005926A>C | CA345950740 | MATN3 | c.608T>G (p.Val203Gly) | |
2 | g.20005926A>G | CA345950742 | MATN3 | c.608T>C (p.Val203Ala) | |
2 | g.20005926A>T | CA345950741 | MATN3 | c.608T>A (p.Val203Glu) | |
2 | g.20005927C>A | CA345950743 | MATN3 | c.607G>T (p.Val203Leu) | |
2 | g.20005927C= | CA2493007898 | MATN3 | c.607G= (p.Val203=) | |
2 | g.20005927C>G | CA345950744 | MATN3 | c.607G>C (p.Val203Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005927C>T | CA345950745 | MATN3 | c.607G>A (p.Val203Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005928C>A | CA345950746 | MATN3 | c.606G>T (p.Gln202His) | |
2 | g.20005928C>G | CA345950747 | MATN3 | c.606G>C (p.Gln202His) | |
2 | g.20005928C>T | CA425341069 | MATN3 | c.606G>A (p.Gln202=) | |
2 | g.20005929T>A | CA345950748 | MATN3 | c.605A>T (p.Gln202Leu) | |
2 | g.20005929T>C | CA345950749 | MATN3 | c.605A>G (p.Gln202Arg) | |
2 | g.20005929T>G | CA345950750 | MATN3 | c.605A>C (p.Gln202Pro) | |
2 | g.20005930G>A | CA345950751 | MATN3 | c.604C>T (p.Gln202Ter) | gnomAD v4 |
2 | g.20005930G>C | CA345950752 | MATN3 | c.604C>G (p.Gln202Glu) | gnomAD v4 |
2 | g.20005930G>T | CA345950753 | MATN3 | c.604C>A (p.Gln202Lys) | gnomAD v4 |
2 | g.20005931G>A | CA425341070 | MATN3 | c.603C>T (p.Asp201=) | dbSNP |
2 | g.20005931G>C | CA345950754 | MATN3 | c.603C>G (p.Asp201Glu) | |
2 | g.20005931G= | CA2493007899 | MATN3 | c.603C= (p.Asp201=) | |
2 | g.20005931G>T | CA345950755 | MATN3 | c.603C>A (p.Asp201Glu) | |
2 | g.20005932T>A | CA345950758 | MATN3 | c.602A>T (p.Asp201Val) | |
2 | g.20005932T>C | CA345950757 | MATN3 | c.602A>G (p.Asp201Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005932T>G | CA345950756 | MATN3 | c.602A>C (p.Asp201Ala) | |
2 | g.20005932T= | CA2493007900 | MATN3 | c.602A= (p.Asp201=) | |
2 | g.20005933C>A | CA345950759 | MATN3 | c.601G>T (p.Asp201Tyr) | |
2 | g.20005933C= | CA2493007901 | MATN3 | c.601G= (p.Asp201=) | |
2 | g.20005933C>G | CA345950760 | MATN3 | c.601G>C (p.Asp201His) | |
2 | g.20005933C>T | CA1543944 | MATN3 | c.601G>A (p.Asp201Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005934C>A | CA345950761 | MATN3 | c.600G>T (p.Gln200His) | |
2 | g.20005934C>G | CA345950762 | MATN3 | c.600G>C (p.Gln200His) | |
2 | g.20005934C>T | CA425341071 | MATN3 | c.600G>A (p.Gln200=) | |
2 | g.20005935T>A | CA345950763 | MATN3 | c.599A>T (p.Gln200Leu) | |
2 | g.20005935T>C | CA345950764 | MATN3 | c.599A>G (p.Gln200Arg) | gnomAD v4 |
2 | g.20005935T>G | CA345950765 | MATN3 | c.599A>C (p.Gln200Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005935T= | CA2493007902 | MATN3 | c.599A= (p.Gln200=) | |
2 | g.20005936G>A | CA345950766 | MATN3 | c.598C>T (p.Gln200Ter) | COSMIC |
2 | g.20005936G>C | CA345950767 | MATN3 | c.598C>G (p.Gln200Glu) | |
2 | g.20005936G>T | CA345950768 | MATN3 | c.598C>A (p.Gln200Lys) | |
2 | g.20005937G>A | CA425341072 | MATN3 | c.597C>T (p.Pro199=) | gnomAD v4 |
2 | g.20005937G>C | CA425341074 | MATN3 | c.597C>G (p.Pro199=) | dbSNP |
2 | g.20005937G= | CA2493007903 | MATN3 | c.597C= (p.Pro199=) | |
2 | g.20005937G>T | CA425341073 | MATN3 | c.597C>A (p.Pro199=) | gnomAD v4 |
2 | g.20005938G>A | CA345950769 | MATN3 | c.596C>T (p.Pro199Leu) | |
2 | g.20005938G>C | CA345950770 | MATN3 | c.596C>G (p.Pro199Arg) | |
2 | g.20005938G>T | CA345950771 | MATN3 | c.596C>A (p.Pro199His) | |
2 | g.20005939G>A | CA345950774 | MATN3 | c.595C>T (p.Pro199Ser) | |
2 | g.20005939G>C | CA345950773 | MATN3 | c.595C>G (p.Pro199Ala) | |
2 | g.20005939G>T | CA345950772 | MATN3 | c.595C>A (p.Pro199Thr) | |
2 | g.20005940C>A | CA345950775 | MATN3 | c.594G>T (p.Arg198Ser) | |
2 | g.20005940C= | CA2493007904 | MATN3 | c.594G= (p.Arg198=) | |
2 | g.20005940C>G | CA345950776 | MATN3 | c.594G>C (p.Arg198Ser) | |
2 | g.20005940C>T | CA1543945 | MATN3 | c.594G>A (p.Arg198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005941C>A | CA345950777 | MATN3 | c.593G>T (p.Arg198Met) | |
2 | g.20005941C= | CA2493007905 | MATN3 | c.593G= (p.Arg198=) | |
2 | g.20005941C>G | CA345950778 | MATN3 | c.593G>C (p.Arg198Thr) | |
2 | g.20005941C>T | CA345950779 | MATN3 | c.593G>A (p.Arg198Lys) | dbSNP |
2 | g.20005942T>A | CA345950780 | MATN3 | c.592A>T (p.Arg198Trp) | |
2 | g.20005942T>C | CA345950781 | MATN3 | c.592A>G (p.Arg198Gly) | gnomAD v4 |
2 | g.20005942T>G | CA425341075 | MATN3 | c.592A>C (p.Arg198=) | |
2 | g.20005943C>A | CA425341076 | MATN3 | c.591G>T (p.Gly197=) | |
2 | g.20005943C>G | CA425341077 | MATN3 | c.591G>C (p.Gly197=) | |
2 | g.20005943C>T | CA425341078 | MATN3 | c.591G>A (p.Gly197=) | |
2 | g.20005944C>A | CA345950782 | MATN3 | c.590G>T (p.Gly197Val) | |
2 | g.20005944C>G | CA345950783 | MATN3 | c.590G>C (p.Gly197Ala) | |
2 | g.20005944C>T | CA345950784 | MATN3 | c.590G>A (p.Gly197Glu) | |
2 | g.20005945C>A | CA345950785 | MATN3 | c.589G>T (p.Gly197Trp) | |
2 | g.20005945C= | CA2493007906 | MATN3 | c.589G= (p.Gly197=) | |
2 | g.20005945C>G | CA345950786 | MATN3 | c.589G>C (p.Gly197Arg) | |
2 | g.20005945C>T | CA345950787 | MATN3 | c.589G>A (p.Gly197Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005946A>C | CA345950788 | MATN3 | c.588T>G (p.Asp196Glu) | |
2 | g.20005946A>G | CA425341079 | MATN3 | c.588T>C (p.Asp196=) | gnomAD v4 |
2 | g.20005946A>T | CA345950789 | MATN3 | c.588T>A (p.Asp196Glu) | |
2 | g.20005947T>A | CA345950790 | MATN3 | c.587A>T (p.Asp196Val) | gnomAD v4 |
2 | g.20005947T>C | CA345950791 | MATN3 | c.587A>G (p.Asp196Gly) | |
2 | g.20005947T>G | CA345950792 | MATN3 | c.587A>C (p.Asp196Ala) | gnomAD v4 |
2 | g.20005948C>A | CA345950793 | MATN3 | c.586G>T (p.Asp196Tyr) | |
2 | g.20005948C>G | CA345950794 | MATN3 | c.586G>C (p.Asp196His) | |
2 | g.20005948C>T | CA345950795 | MATN3 | c.586G>A (p.Asp196Asn) | COSMIC |
2 | g.20005949T>A | CA425341080 | MATN3 | c.585A>T (p.Thr195=) | |
2 | g.20005949T>C | CA425341082 | MATN3 | c.585A>G (p.Thr195=) | gnomAD v4 |
2 | g.20005949T>G | CA425341081 | MATN3 | c.585A>C (p.Thr195=) | |
2 | g.20005950G>A | CA1543946 | MATN3 | c.584C>T (p.Thr195Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005950G>C | CA345950796 | MATN3 | c.584C>G (p.Thr195Arg) | |
2 | g.20005950G= | CA2493007907 | MATN3 | c.584C= (p.Thr195=) | |
2 | g.20005950G>T | CA345950797 | MATN3 | c.584C>A (p.Thr195Lys) | ClinVar dbSNP |
2 | g.20005951T>A | CA345950798 | MATN3 | c.583A>T (p.Thr195Ser) | |
2 | g.20005951T>C | CA345950799 | MATN3 | c.583A>G (p.Thr195Ala) | |
2 | g.20005951T>G | CA345950800 | MATN3 | c.583A>C (p.Thr195Pro) | |
2 | g.20005952A= | CA2493007908 | MATN3 | c.582T= (p.Val194=) | |
2 | g.20005952A>C | CA425341083 | MATN3 | c.582T>G (p.Val194=) | dbSNP |
2 | g.20005952A>G | CA425341084 | MATN3 | c.582T>C (p.Val194=) | |
2 | g.20005952A>T | CA425341085 | MATN3 | c.582T>A (p.Val194=) | |
2 | g.20005953A= | CA2493007909 | MATN3 | c.581T= (p.Val194=) | |
2 | g.20005953A>C | CA345950801 | MATN3 | c.581T>G (p.Val194Gly) | |
2 | g.20005953A>G | CA345950802 | MATN3 | c.581T>C (p.Val194Ala) | |
2 | g.20005953A>T | CA254202 | MATN3 | c.581T>A (p.Val194Asp) | ClinVar dbSNP |