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.20005774G>A | CA345950419 | MATN3 | c.760C>T (p.Leu254Phe) | |
2 | g.20005774G>C | CA345950418 | MATN3 | c.760C>G (p.Leu254Val) | |
2 | g.20005774G= | CA2493007821 | MATN3 | c.760C= (p.Leu254=) | |
2 | g.20005774G>T | CA345950417 | MATN3 | c.760C>A (p.Leu254Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005775T>A | CA345950420 | MATN3 | c.759A>T (p.Lys253Asn) | |
2 | g.20005775T>C | CA1543910 | MATN3 | c.759A>G (p.Lys253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005775T>G | CA345950421 | MATN3 | c.759A>C (p.Lys253Asn) | |
2 | g.20005775T= | CA2493007823 | MATN3 | c.759A= (p.Lys253=) | |
2 | g.20005777dup | CA2493007822 | MATN3 | c.759dup (p.Leu254ThrfsTer4) | dbSNP |
2 | g.20005776T>A | CA345950422 | MATN3 | c.758A>T (p.Lys253Ile) | |
2 | g.20005776T>C | CA345950423 | MATN3 | c.758A>G (p.Lys253Arg) | |
2 | g.20005776T>G | CA345950424 | MATN3 | c.758A>C (p.Lys253Thr) | |
2 | g.20005777T>A | CA345950425 | MATN3 | c.757A>T (p.Lys253Ter) | |
2 | g.20005777T>C | CA43403539 | MATN3 | c.757A>G (p.Lys253Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005777T>G | CA345950426 | MATN3 | c.757A>C (p.Lys253Gln) | |
2 | g.20005777T= | CA2493007824 | MATN3 | c.757A= (p.Lys253=) | |
2 | g.20005778C>A | CA345950427 | MATN3 | c.756G>T (p.Glu252Asp) | |
2 | g.20005778C>G | CA345950428 | MATN3 | c.756G>C (p.Glu252Asp) | |
2 | g.20005778C>T | CA425340831 | MATN3 | c.756G>A (p.Glu252=) | |
2 | g.20005779T>A | CA345950429 | MATN3 | c.755A>T (p.Glu252Val) | |
2 | g.20005779T>C | CA345950430 | MATN3 | c.755A>G (p.Glu252Gly) | |
2 | g.20005779T>G | CA345950431 | MATN3 | c.755A>C (p.Glu252Ala) | |
2 | g.20005779_20005781delinsTCA | CA2493007825 | MATN3 | c.753_755delinsTGA (p.Ile251=) | |
2 | g.20005780C>A | CA345950432 | MATN3 | c.754G>T (p.Glu252Ter) | gnomAD v4 |
2 | g.20005780C= | CA2493007827 | MATN3 | c.754G= (p.Glu252=) | |
2 | g.20005780C>G | CA345950433 | MATN3 | c.754G>C (p.Glu252Gln) | |
2 | g.20005780C>T | CA1543911 | MATN3 | c.754G>A (p.Glu252Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005780_20005781del | CA2493007826 | MATN3 | c.753_754del (p.Lys253ThrfsTer4) | dbSNP |
2 | g.20005781A>C | CA345950434 | MATN3 | c.753T>G (p.Ile251Met) | |
2 | g.20005781A>G | CA425340835 | MATN3 | c.753T>C (p.Ile251=) | |
2 | g.20005781A>T | CA425340836 | MATN3 | c.753T>A (p.Ile251=) | |
2 | g.20005782A= | CA2493007828 | MATN3 | c.752T= (p.Ile251=) | |
2 | g.20005782A>C | CA345950435 | MATN3 | c.752T>G (p.Ile251Ser) | |
2 | g.20005782A>G | CA1543912 | MATN3 | c.752T>C (p.Ile251Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005782A>T | CA345950436 | MATN3 | c.752T>A (p.Ile251Asn) | |
2 | g.20005783T>A | CA345950437 | MATN3 | c.751A>T (p.Ile251Phe) | |
2 | g.20005783T>C | CA345950438 | MATN3 | c.751A>G (p.Ile251Val) | |
2 | g.20005783T>G | CA345950439 | MATN3 | c.751A>C (p.Ile251Leu) | |
2 | g.20005784G>A | CA425340841 | MATN3 | c.750C>T (p.Val250=) | gnomAD v4 |
2 | g.20005784G>C | CA425340842 | MATN3 | c.750C>G (p.Val250=) | |
2 | g.20005784G>T | CA425340843 | MATN3 | c.750C>A (p.Val250=) | gnomAD v4 |
2 | g.20005785A>C | CA345950440 | MATN3 | c.749T>G (p.Val250Gly) | |
2 | g.20005785A>G | CA345950441 | MATN3 | c.749T>C (p.Val250Ala) | |
2 | g.20005785A>T | CA345950442 | MATN3 | c.749T>A (p.Val250Asp) | |
2 | g.20005786C>A | CA345950443 | MATN3 | c.748G>T (p.Val250Phe) | |
2 | g.20005786C>G | CA345950444 | MATN3 | c.748G>C (p.Val250Leu) | |
2 | g.20005786C>T | CA345950445 | MATN3 | c.748G>A (p.Val250Ile) | |
2 | g.20005789dup | CA2749074460 | MATN3 | c.748dup (p.Val250GlyfsTer3) | |
2 | g.20005787C>A | CA425340849 | MATN3 | c.747G>T (p.Gly249=) | |
2 | g.20005787C>G | CA425340848 | MATN3 | c.747G>C (p.Gly249=) | |
2 | g.20005787C>T | CA425340847 | MATN3 | c.747G>A (p.Gly249=) | |
2 | g.20005788C>A | CA345950448 | MATN3 | c.746G>T (p.Gly249Val) | |
2 | g.20005788C>G | CA345950446 | MATN3 | c.746G>C (p.Gly249Ala) | gnomAD v4 |
2 | g.20005788C>T | CA345950447 | MATN3 | c.746G>A (p.Gly249Glu) | |
2 | g.20005789C>A | CA345950449 | MATN3 | c.745G>T (p.Gly249Trp) | gnomAD v4 |
2 | g.20005789C>G | CA345950450 | MATN3 | c.745G>C (p.Gly249Arg) | |
2 | g.20005789C>T | CA345950451 | MATN3 | c.745G>A (p.Gly249Arg) | gnomAD v4 |
2 | g.20005790A>C | CA345950452 | MATN3 | c.744T>G (p.Tyr248Ter) | gnomAD v4 |
2 | g.20005790A>G | CA425340853 | MATN3 | c.744T>C (p.Tyr248=) | gnomAD v4 |
2 | g.20005790A>T | CA345950453 | MATN3 | c.744T>A (p.Tyr248Ter) | |
2 | g.20005791T>A | CA345950454 | MATN3 | c.743A>T (p.Tyr248Phe) | |
2 | g.20005791T>C | CA345950455 | MATN3 | c.743A>G (p.Tyr248Cys) | |
2 | g.20005791T>G | CA345950456 | MATN3 | c.743A>C (p.Tyr248Ser) | |
2 | g.20005792A>C | CA345950457 | MATN3 | c.742T>G (p.Tyr248Asp) | |
2 | g.20005792A>G | CA345950458 | MATN3 | c.742T>C (p.Tyr248His) | |
2 | g.20005792A>T | CA345950459 | MATN3 | c.742T>A (p.Tyr248Asn) | |
2 | g.20005793G>A | CA425340856 | MATN3 | c.741C>T (p.Thr247=) | |
2 | g.20005793G>C | CA425340858 | MATN3 | c.741C>G (p.Thr247=) | |
2 | g.20005793G>T | CA425340857 | MATN3 | c.741C>A (p.Thr247=) | |
2 | g.20005794G>A | CA345950460 | MATN3 | c.740C>T (p.Thr247Ile) | gnomAD v4 |
2 | g.20005794G>C | CA345950462 | MATN3 | c.740C>G (p.Thr247Ser) | |
2 | g.20005794G>T | CA345950461 | MATN3 | c.740C>A (p.Thr247Asn) | |
2 | g.20005795T>A | CA345950463 | MATN3 | c.739A>T (p.Thr247Ser) | |
2 | g.20005795T>C | CA345950465 | MATN3 | c.739A>G (p.Thr247Ala) | gnomAD v4 |
2 | g.20005795T>G | CA345950464 | MATN3 | c.739A>C (p.Thr247Pro) | |
2 | g.20005796C>A | CA1543913 | MATN3 | c.738G>T (p.Glu246Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005796C= | CA2493007829 | MATN3 | c.738G= (p.Glu246=) | |
2 | g.20005796C>G | CA345950466 | MATN3 | c.738G>C (p.Glu246Asp) | |
2 | g.20005796C>T | CA425340864 | MATN3 | c.738G>A (p.Glu246=) | |
2 | g.20005797T>A | CA345950467 | MATN3 | c.737A>T (p.Glu246Val) | |
2 | g.20005797T>C | CA345950468 | MATN3 | c.737A>G (p.Glu246Gly) | gnomAD v4 |
2 | g.20005797T>G | CA345950469 | MATN3 | c.737A>C (p.Glu246Ala) | |
2 | g.20005798C>A | CA345950470 | MATN3 | c.736G>T (p.Glu246Ter) | gnomAD v4 |
2 | g.20005798C>G | CA345950471 | MATN3 | c.736G>C (p.Glu246Gln) | |
2 | g.20005798C>T | CA345950472 | MATN3 | c.736G>A (p.Glu246Lys) | |
2 | g.20005799C>A | CA425340869 | MATN3 | c.735G>T (p.Val245=) | gnomAD v4 |
2 | g.20005799C>G | CA425340871 | MATN3 | c.735G>C (p.Val245=) | |
2 | g.20005799C>T | CA425340873 | MATN3 | c.735G>A (p.Val245=) | |
2 | g.20005800A= | CA2493007830 | MATN3 | c.734T= (p.Val245=) | |
2 | g.20005800A>C | CA345950473 | MATN3 | c.734T>G (p.Val245Gly) | |
2 | g.20005800A>G | CA345950474 | MATN3 | c.734T>C (p.Val245Ala) | dbSNP |
2 | g.20005800A>T | CA345950475 | MATN3 | c.734T>A (p.Val245Glu) | |
2 | g.20005801C>A | CA345950476 | MATN3 | c.733G>T (p.Val245Leu) | ClinVar dbSNP |
2 | g.20005801C= | CA2493007831 | MATN3 | c.733G= (p.Val245=) | |
2 | g.20005801C>G | CA1543915 | MATN3 | c.733G>C (p.Val245Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005801C>T | CA1543914 | MATN3 | c.733G>A (p.Val245Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005802G>A | CA1543916 | MATN3 | c.732C>T (p.Tyr244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005802G>C | CA345950477 | MATN3 | c.732C>G (p.Tyr244Ter) | |
2 | g.20005802G= | CA2493007832 | MATN3 | c.732C= (p.Tyr244=) | |
2 | g.20005802G>T | CA345950478 | MATN3 | c.732C>A (p.Tyr244Ter) | gnomAD v4 |
2 | g.20005803T>A | CA345950479 | MATN3 | c.731A>T (p.Tyr244Phe) | gnomAD v4 |
2 | g.20005803T>C | CA345950480 | MATN3 | c.731A>G (p.Tyr244Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005803T>G | CA345950481 | MATN3 | c.731A>C (p.Tyr244Ser) | |
2 | g.20005803T= | CA2493007833 | MATN3 | c.731A= (p.Tyr244=) | |
2 | g.20005804A= | CA2493007834 | MATN3 | c.730T= (p.Tyr244=) | |
2 | g.20005804A>C | CA345950482 | MATN3 | c.730T>G (p.Tyr244Asp) | |
2 | g.20005804A>G | CA345950483 | MATN3 | c.730T>C (p.Tyr244His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005804A>T | CA345950484 | MATN3 | c.730T>A (p.Tyr244Asn) | |
2 | g.20005805G>A | CA425340883 | MATN3 | c.729C>T (p.Phe243=) | gnomAD v4 |
2 | g.20005805G>C | CA345950485 | MATN3 | c.729C>G (p.Phe243Leu) | |
2 | g.20005805G= | CA2493007835 | MATN3 | c.729C= (p.Phe243=) | |
2 | g.20005805G>T | CA345950486 | MATN3 | c.729C>A (p.Phe243Leu) | dbSNP gnomAD v2 |
2 | g.20005806A>C | CA345950489 | MATN3 | c.728T>G (p.Phe243Cys) | |
2 | g.20005806A>G | CA345950488 | MATN3 | c.728T>C (p.Phe243Ser) | gnomAD v4 |
2 | g.20005806A>T | CA345950487 | MATN3 | c.728T>A (p.Phe243Tyr) | |
2 | g.20005807A>C | CA345950490 | MATN3 | c.727T>G (p.Phe243Val) | |
2 | g.20005807A>G | CA345950491 | MATN3 | c.727T>C (p.Phe243Leu) | |
2 | g.20005807A>T | CA345950492 | MATN3 | c.727T>A (p.Phe243Ile) | |
2 | g.20005808A>C | CA425340891 | MATN3 | c.726T>G (p.Val242=) | |
2 | g.20005808A>G | CA425340890 | MATN3 | c.726T>C (p.Val242=) | |
2 | g.20005808A>T | CA425340889 | MATN3 | c.726T>A (p.Val242=) | |
2 | g.20005809A>C | CA345950493 | MATN3 | c.725T>G (p.Val242Gly) | |
2 | g.20005809A>G | CA345950494 | MATN3 | c.725T>C (p.Val242Ala) | |
2 | g.20005809A>T | CA345950495 | MATN3 | c.725T>A (p.Val242Asp) | |
2 | g.20005810C>A | CA345950498 | MATN3 | c.724G>T (p.Val242Phe) | |
2 | g.20005810C>G | CA345950496 | MATN3 | c.724G>C (p.Val242Leu) | |
2 | g.20005810C>T | CA345950497 | MATN3 | c.724G>A (p.Val242Ile) | gnomAD v4 |
2 | g.20005811A= | CA2493007836 | MATN3 | c.723T= (p.His241=) | |
2 | g.20005811A>C | CA345950499 | MATN3 | c.723T>G (p.His241Gln) | gnomAD v4 |
2 | g.20005811A>G | CA43403571 | MATN3 | c.723T>C (p.His241=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005811A>T | CA345950500 | MATN3 | c.723T>A (p.His241Gln) | gnomAD v4 |
2 | g.20005812T>A | CA345950501 | MATN3 | c.722A>T (p.His241Leu) | |
2 | g.20005812T>C | CA345950502 | MATN3 | c.722A>G (p.His241Arg) | |
2 | g.20005812T>G | CA345950503 | MATN3 | c.722A>C (p.His241Pro) | |
2 | g.20005813G>A | CA345950504 | MATN3 | c.721C>T (p.His241Tyr) | gnomAD v4 |
2 | g.20005813G>C | CA345950506 | MATN3 | c.721C>G (p.His241Asp) | |
2 | g.20005813G>T | CA345950505 | MATN3 | c.721C>A (p.His241Asn) | |
2 | g.20005814C>A | CA345950507 | MATN3 | c.720G>T (p.Glu240Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005814C= | CA2493007837 | MATN3 | c.720G= (p.Glu240=) | |
2 | g.20005814C>G | CA345950508 | MATN3 | c.720G>C (p.Glu240Asp) | |
2 | g.20005814C>T | CA425340902 | MATN3 | c.720G>A (p.Glu240=) | gnomAD v4 |
2 | g.20005815T>A | CA345950509 | MATN3 | c.719A>T (p.Glu240Val) | |
2 | g.20005815T>C | CA345950510 | MATN3 | c.719A>G (p.Glu240Gly) | |
2 | g.20005815T>G | CA345950511 | MATN3 | c.719A>C (p.Glu240Ala) | |
2 | g.20005816C>A | CA345950512 | MATN3 | c.718G>T (p.Glu240Ter) | |
2 | g.20005816C>G | CA345950513 | MATN3 | c.718G>C (p.Glu240Gln) | |
2 | g.20005816C>T | CA345950514 | MATN3 | c.718G>A (p.Glu240Lys) | gnomAD v4 |
2 | g.20005817C>A | CA345950515 | MATN3 | c.717G>T (p.Glu239Asp) | |
2 | g.20005817C= | CA2493007838 | MATN3 | c.717G= (p.Glu239=) | |
2 | g.20005817C>G | CA345950516 | MATN3 | c.717G>C (p.Glu239Asp) | gnomAD v3 gnomAD v4 |
2 | g.20005817C>T | CA425340907 | MATN3 | c.717G>A (p.Glu239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005818T>A | CA345950519 | MATN3 | c.716A>T (p.Glu239Val) | |
2 | g.20005818T>C | CA345950518 | MATN3 | c.716A>G (p.Glu239Gly) | |
2 | g.20005818T>G | CA345950517 | MATN3 | c.716A>C (p.Glu239Ala) | |
2 | g.20005819C>A | CA345950520 | MATN3 | c.715G>T (p.Glu239Ter) | |
2 | g.20005819C= | CA2493007839 | MATN3 | c.715G= (p.Glu239=) | |
2 | g.20005819C>G | CA345950522 | MATN3 | c.715G>C (p.Glu239Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005819C>T | CA345950521 | MATN3 | c.715G>A (p.Glu239Lys) | COSMIC |
2 | g.20005820T>A | CA425340911 | MATN3 | c.714A>T (p.Leu238=) | |
2 | g.20005820T>C | CA425340909 | MATN3 | c.714A>G (p.Leu238=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005820T>G | CA425340910 | MATN3 | c.714A>C (p.Leu238=) | |
2 | g.20005820T= | CA2493007840 | MATN3 | c.714A= (p.Leu238=) | |
2 | g.20005821A>C | CA345950523 | MATN3 | c.713T>G (p.Leu238Arg) | |
2 | g.20005821A>G | CA345950524 | MATN3 | c.713T>C (p.Leu238Pro) | |
2 | g.20005821A>T | CA345950525 | MATN3 | c.713T>A (p.Leu238Gln) | |
2 | g.20005822G>A | CA425340912 | MATN3 | c.712C>T (p.Leu238=) | dbSNP gnomAD v2 |
2 | g.20005822G>C | CA345950526 | MATN3 | c.712C>G (p.Leu238Val) | |
2 | g.20005822G= | CA2493007841 | MATN3 | c.712C= (p.Leu238=) | |
2 | g.20005822G>T | CA345950527 | MATN3 | c.712C>A (p.Leu238Ile) | |
2 | g.20005823G>A | CA425340914 | MATN3 | c.711C>T (p.Pro237=) | |
2 | g.20005823G>C | CA425340915 | MATN3 | c.711C>G (p.Pro237=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005823G= | CA2493007842 | MATN3 | c.711C= (p.Pro237=) | |
2 | g.20005823G>T | CA425340916 | MATN3 | c.711C>A (p.Pro237=) | |
2 | g.20005824G>A | CA1543917 | MATN3 | c.710C>T (p.Pro237Leu) | dbSNP ExAC gnomAD v2 |
2 | g.20005824G>C | CA345950528 | MATN3 | c.710C>G (p.Pro237Arg) | |
2 | g.20005824G= | CA2493007843 | MATN3 | c.710C= (p.Pro237=) | |
2 | g.20005824G>T | CA345950529 | MATN3 | c.710C>A (p.Pro237His) | |
2 | g.20005825G>A | CA345950530 | MATN3 | c.709C>T (p.Pro237Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005825G>C | CA345950531 | MATN3 | c.709C>G (p.Pro237Ala) | |
2 | g.20005825G= | CA2493007844 | MATN3 | c.709C= (p.Pro237=) | |
2 | g.20005825G>T | CA345950532 | MATN3 | c.709C>A (p.Pro237Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005826C>A | CA345950533 | MATN3 | c.708G>T (p.Glu236Asp) | gnomAD v4 |
2 | g.20005826C= | CA2493007845 | MATN3 | c.708G= (p.Glu236=) | |
2 | g.20005826C>G | CA345950534 | MATN3 | c.708G>C (p.Glu236Asp) | |
2 | g.20005826C>T | CA425340921 | MATN3 | c.708G>A (p.Glu236=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005827T>A | CA345950537 | MATN3 | c.707A>T (p.Glu236Val) | |
2 | g.20005827T>C | CA345950535 | MATN3 | c.707A>G (p.Glu236Gly) | gnomAD v4 |
2 | g.20005827T>G | CA345950536 | MATN3 | c.707A>C (p.Glu236Ala) | |
2 | g.20005828C>A | CA345950538 | MATN3 | c.706G>T (p.Glu236Ter) | gnomAD v4 |
2 | g.20005828C>G | CA345950539 | MATN3 | c.706G>C (p.Glu236Gln) | |
2 | g.20005828C>T | CA345950540 | MATN3 | c.706G>A (p.Glu236Lys) | |
2 | g.20005829A= | CA2493007846 | MATN3 | c.705T= (p.Ser235=) | |
2 | g.20005829A>C | CA345950541 | MATN3 | c.705T>G (p.Ser235Arg) | |
2 | g.20005829A>G | CA1543918 | MATN3 | c.705T>C (p.Ser235=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005829A>T | CA345950542 | MATN3 | c.705T>A (p.Ser235Arg) | |
2 | g.20005830C>A | CA345950543 | MATN3 | c.704G>T (p.Ser235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005830C= | CA2493007847 | MATN3 | c.704G= (p.Ser235=) | |
2 | g.20005830C>G | CA345950544 | MATN3 | c.704G>C (p.Ser235Thr) | gnomAD v4 |
2 | g.20005830C>T | CA345950545 | MATN3 | c.704G>A (p.Ser235Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005831T>A | CA345950546 | MATN3 | c.703A>T (p.Ser235Cys) | |
2 | g.20005831T>C | CA345950547 | MATN3 | c.703A>G (p.Ser235Gly) | |
2 | g.20005831T>G | CA345950548 | MATN3 | c.703A>C (p.Ser235Arg) | |
2 | g.20005832G>A | CA425340930 | MATN3 | c.702C>T (p.Ala234=) | |
2 | g.20005832G>C | CA425340931 | MATN3 | c.702C>G (p.Ala234=) | |
2 | g.20005832G>T | CA425340932 | MATN3 | c.702C>A (p.Ala234=) | |
2 | g.20005833G>A | CA345950549 | MATN3 | c.701C>T (p.Ala234Val) | dbSNP gnomAD v4 |
2 | g.20005833G>C | CA345950551 | MATN3 | c.701C>G (p.Ala234Gly) | |
2 | g.20005833G= | CA2493007848 | MATN3 | c.701C= (p.Ala234=) | |
2 | g.20005833G>T | CA345950550 | MATN3 | c.701C>A (p.Ala234Asp) | |
2 | g.20005834C>A | CA345950552 | MATN3 | c.700G>T (p.Ala234Ser) | |
2 | g.20005834C= | CA2493007849 | MATN3 | c.700G= (p.Ala234=) | |
2 | g.20005834C>G | CA345950553 | MATN3 | c.700G>C (p.Ala234Pro) | |
2 | g.20005834C>T | CA43403576 | MATN3 | c.700G>A (p.Ala234Thr) | dbSNP |
2 | g.20005835C>A | CA345950554 | MATN3 | c.699G>T (p.Met233Ile) | |
2 | g.20005835C>G | CA345950555 | MATN3 | c.699G>C (p.Met233Ile) | |
2 | g.20005835C>T | CA345950556 | MATN3 | c.699G>A (p.Met233Ile) | |
2 | g.20005836A= | CA2493007850 | MATN3 | c.698T= (p.Met233=) | |
2 | g.20005836A>C | CA345950557 | MATN3 | c.698T>G (p.Met233Arg) | |
2 | g.20005836A>G | CA345950558 | MATN3 | c.698T>C (p.Met233Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005836A>T | CA345950559 | MATN3 | c.698T>A (p.Met233Lys) | |
2 | g.20005837T>A | CA345950560 | MATN3 | c.697A>T (p.Met233Leu) | |
2 | g.20005837T>C | CA345950561 | MATN3 | c.697A>G (p.Met233Val) | |
2 | g.20005837T>G | CA345950562 | MATN3 | c.697A>C (p.Met233Leu) | |
2 | g.20005838C>A | CA345950565 | MATN3 | c.696G>T (p.Met232Ile) | gnomAD v4 |
2 | g.20005838C>G | CA345950563 | MATN3 | c.696G>C (p.Met232Ile) | |
2 | g.20005838C>T | CA345950564 | MATN3 | c.696G>A (p.Met232Ile) | ClinVar |
2 | g.20005839A>C | CA345950566 | MATN3 | c.695T>G (p.Met232Arg) | |
2 | g.20005839A>G | CA345950567 | MATN3 | c.695T>C (p.Met232Thr) | ClinVar gnomAD v4 COSMIC |
2 | g.20005839A>T | CA345950568 | MATN3 | c.695T>A (p.Met232Lys) | |
2 | g.20005840T>A | CA345950569 | MATN3 | c.694A>T (p.Met232Leu) | ClinVar |
2 | g.20005840T>C | CA345950570 | MATN3 | c.694A>G (p.Met232Val) | |
2 | g.20005840T>G | CA345950571 | MATN3 | c.694A>C (p.Met232Leu) | |
2 | g.20005841C>A | CA345950572 | MATN3 | c.693G>T (p.Lys231Asn) | |
2 | g.20005841C= | CA2493007851 | MATN3 | c.693G= (p.Lys231=) | |
2 | g.20005841C>G | CA1543919 | MATN3 | c.693G>C (p.Lys231Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005841C>T | CA425340943 | MATN3 | c.693G>A (p.Lys231=) | |
2 | g.20005842T>A | CA345950573 | MATN3 | c.692A>T (p.Lys231Met) | |
2 | g.20005842T>C | CA1543920 | MATN3 | c.692A>G (p.Lys231Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005842T>G | CA345950574 | MATN3 | c.692A>C (p.Lys231Thr) | |
2 | g.20005842T= | CA2493007852 | MATN3 | c.692A= (p.Lys231=) | |
2 | g.20005843T>A | CA345950576 | MATN3 | c.691A>T (p.Lys231Ter) | |
2 | g.20005843T>C | CA345950577 | MATN3 | c.691A>G (p.Lys231Glu) | |
2 | g.20005843T>G | CA345950575 | MATN3 | c.691A>C (p.Lys231Gln) | gnomAD v4 |
2 | g.20005844G>A | CA425340948 | MATN3 | c.690C>T (p.Leu230=) | gnomAD v4 |
2 | g.20005844G>C | CA1543921 | MATN3 | c.690C>G (p.Leu230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005844G= | CA2493007853 | MATN3 | c.690C= (p.Leu230=) | |
2 | g.20005844G>T | CA425340949 | MATN3 | c.690C>A (p.Leu230=) | |
2 | g.20005845A>C | CA345950578 | MATN3 | c.689T>G (p.Leu230Arg) | |
2 | g.20005845A>G | CA345950579 | MATN3 | c.689T>C (p.Leu230Pro) | |
2 | g.20005845A>T | CA345950580 | MATN3 | c.689T>A (p.Leu230His) | |
2 | g.20005846G>A | CA345950581 | MATN3 | c.688C>T (p.Leu230Phe) | |
2 | g.20005846G>C | CA345950582 | MATN3 | c.688C>G (p.Leu230Val) | |
2 | g.20005846G>T | CA345950583 | MATN3 | c.688C>A (p.Leu230Ile) | |
2 | g.20005847G>A | CA43403589 | MATN3 | c.687C>T (p.Ser229=) | dbSNP gnomAD v2 |
2 | g.20005847G>C | CA43403592 | MATN3 | c.687C>G (p.Ser229=) | dbSNP gnomAD v4 |
2 | g.20005847G= | CA2493007854 | MATN3 | c.687C= (p.Ser229=) | |
2 | g.20005847G>T | CA425340953 | MATN3 | c.687C>A (p.Ser229=) | |
2 | g.20005848G>A | CA345950584 | MATN3 | c.686C>T (p.Ser229Phe) | |
2 | g.20005848G>C | CA345950585 | MATN3 | c.686C>G (p.Ser229Cys) | |
2 | g.20005848G= | CA2493007855 | MATN3 | c.686C= (p.Ser229=) | |
2 | g.20005848G>T | CA1543922 | MATN3 | c.686C>A (p.Ser229Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005849A= | CA2493007856 | MATN3 | c.685T= (p.Ser229=) | |
2 | g.20005849A>C | CA345950586 | MATN3 | c.685T>G (p.Ser229Ala) | |
2 | g.20005849A>G | CA345950587 | MATN3 | c.685T>C (p.Ser229Pro) | |
2 | g.20005849A>T | CA345950588 | MATN3 | c.685T>A (p.Ser229Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005850C>A | CA425340957 | MATN3 | c.684G>T (p.Ala228=) | |
2 | g.20005850C= | CA2493007857 | MATN3 | c.684G= (p.Ala228=) | |
2 | g.20005850C>G | CA425340958 | MATN3 | c.684G>C (p.Ala228=) | |
2 | g.20005850C>T | CA1543923 | MATN3 | c.684G>A (p.Ala228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005851G>A | CA1543924 | MATN3 | c.683C>T (p.Ala228Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005851G>C | CA345950589 | MATN3 | c.683C>G (p.Ala228Gly) | |
2 | g.20005851G= | CA2493007858 | MATN3 | c.683C= (p.Ala228=) | |
2 | g.20005851G>T | CA1543925 | MATN3 | c.683C>A (p.Ala228Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005852C>A | CA345950590 | MATN3 | c.682G>T (p.Ala228Ser) | |
2 | g.20005852C>G | CA345950591 | MATN3 | c.682G>C (p.Ala228Pro) | |
2 | g.20005852C>T | CA345950592 | MATN3 | c.682G>A (p.Ala228Thr) | |
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=) |