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.20005729_20005730dup | CA763243869 | MATN3 | c.790+15_790+16dup (n.790+15_790+16dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005728_20005732delinsAGACT | CA2493007802 | MATN3 | c.790+12_790+16delinsAGTCT (n.790+12_790+16delinsAGTCT) | |
2 | g.20005732_20005735del | CA763243874 | MATN3 | c.790+12_790+15del (n.790+12_790+15del) | dbSNP |
2 | g.20005730A= | CA2493007803 | MATN3 | c.790+14T= (n.790+14T=) | |
2 | g.20005730A>C | CA763243875 | MATN3 | c.790+14T>G (n.790+14T>G) | dbSNP |
2 | g.20005731C>A | CA2658010939 | MATN3 | c.790+13G>T (n.790+13G>T) | gnomAD v4 |
2 | g.20005732T>G | CA530853133 | MATN3 | c.790+12A>C (n.790+12A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005732T= | CA2493007804 | MATN3 | c.790+12A= (n.790+12A=) | |
2 | g.20005733G>A | CA2493007806 | MATN3 | c.790+11C>T (n.790+11C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.20005733G= | CA2493007805 | MATN3 | c.790+11C= (n.790+11C=) | |
2 | g.20005733G>T | CA2658010940 | MATN3 | c.790+11C>A (n.790+11C>A) | gnomAD v4 |
2 | g.20005734A>C | CA2658010941 | MATN3 | c.790+10T>G (n.790+10T>G) | gnomAD v4 |
2 | g.20005734A>G | CA2576684691 | MATN3 | c.790+10T>C (n.790+10T>C) | |
2 | g.20005734A>T | CA2576684692 | MATN3 | c.790+10T>A (n.790+10T>A) | |
2 | g.20005735C>A | CA2658010942 | MATN3 | c.790+9G>T (n.790+9G>T) | gnomAD v4 |
2 | g.20005735C>T | CA2658010943 | MATN3 | c.790+9G>A (n.790+9G>A) | gnomAD v4 |
2 | g.20005736C>A | CA1543904 | MATN3 | c.790+8G>T (n.790+8G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005736C= | CA2493007807 | MATN3 | c.790+8G= (n.790+8G=) | |
2 | g.20005738A= | CA2493007808 | MATN3 | c.790+6T= (n.790+6T=) | |
2 | g.20005738A>C | CA530853134 | MATN3 | c.790+6T>G (n.790+6T>G) | dbSNP gnomAD v2 |
2 | g.20005738A>G | CA2493007809 | MATN3 | c.790+6T>C (n.790+6T>C) | dbSNP |
2 | g.20005742A>C | CA345950343 | MATN3 | c.790+2T>G (n.790+2T>G) | |
2 | g.20005742A>G | CA345950344 | MATN3 | c.790+2T>C (n.790+2T>C) | gnomAD v4 |
2 | g.20005742A>T | CA345950345 | MATN3 | c.790+2T>A (n.790+2T>A) | |
2 | g.20005743C>A | CA1543906 | MATN3 | c.790+1G>T (n.790+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005743C= | CA2493007810 | MATN3 | c.790+1G= (n.790+1G=) | |
2 | g.20005743C>G | CA345950347 | MATN3 | c.790+1G>C (n.790+1G>C) | |
2 | g.20005743C>T | CA345950346 | MATN3 | c.790+1G>A (n.790+1G>A) | gnomAD v4 |
2 | g.20005744C>A | CA345950348 | MATN3 | c.790G>T (p.Ala264Ser) | |
2 | g.20005744C>G | CA345950349 | MATN3 | c.790G>C (p.Ala264Pro) | |
2 | g.20005744C>T | CA345950350 | MATN3 | c.790G>A (p.Ala264Thr) | gnomAD v4 |
2 | g.20005746_20005747dup | CA1543905 | MATN3 | c.789_790dup (p.Ala264ValfsTer?) c.789_790dup (p.Ala264ValfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005745A>C | CA345950351 | MATN3 | c.789T>G (p.Cys263Trp) | |
2 | g.20005745A>G | CA425117075 | MATN3 | c.789T>C (p.Cys263=) | |
2 | g.20005745A>T | CA345950352 | MATN3 | c.789T>A (p.Cys263Ter) | |
2 | g.20005746C>A | CA345950353 | MATN3 | c.788G>T (p.Cys263Phe) | ClinVar |
2 | g.20005746C>G | CA345950354 | MATN3 | c.788G>C (p.Cys263Ser) | |
2 | g.20005746C>T | CA345950355 | MATN3 | c.788G>A (p.Cys263Tyr) | gnomAD v4 |
2 | g.20005747del | CA2593714669 | MATN3 | c.787del (p.Cys263ValfsTer?) c.787del (p.Cys263ValfsTer18) | gnomAD v3 gnomAD v4 |
2 | g.20005747A>C | CA345950356 | MATN3 | c.787T>G (p.Cys263Gly) | |
2 | g.20005747A>G | CA345950357 | MATN3 | c.787T>C (p.Cys263Arg) | |
2 | g.20005747A>T | CA345950358 | MATN3 | c.787T>A (p.Cys263Ser) | gnomAD v4 |
2 | g.20005748G>A | CA425117079 | MATN3 | c.786C>T (p.Phe262=) | gnomAD v4 |
2 | g.20005748G>C | CA345950359 | MATN3 | c.786C>G (p.Phe262Leu) | |
2 | g.20005748G>T | CA345950360 | MATN3 | c.786C>A (p.Phe262Leu) | |
2 | g.20005749A= | CA2493007811 | MATN3 | c.785T= (p.Phe262=) | |
2 | g.20005749A>C | CA345950361 | MATN3 | c.785T>G (p.Phe262Cys) | |
2 | g.20005749A>G | CA1543907 | MATN3 | c.785T>C (p.Phe262Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005749A>T | CA345950362 | MATN3 | c.785T>A (p.Phe262Tyr) | |
2 | g.20005750A= | CA2493007812 | MATN3 | c.784T= (p.Phe262=) | |
2 | g.20005750A>C | CA345950363 | MATN3 | c.784T>G (p.Phe262Val) | gnomAD v4 |
2 | g.20005750A>G | CA345950364 | MATN3 | c.784T>C (p.Phe262Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.20005750A>T | CA345950365 | MATN3 | c.784T>A (p.Phe262Ile) | |
2 | g.20005751G>A | CA425117081 | MATN3 | c.783C>T (p.Thr261=) | |
2 | g.20005751G>C | CA425117082 | MATN3 | c.783C>G (p.Thr261=) | |
2 | g.20005751G>T | CA425117083 | MATN3 | c.783C>A (p.Thr261=) | |
2 | g.20005752G>A | CA345950366 | MATN3 | c.782C>T (p.Thr261Ile) | gnomAD v4 COSMIC |
2 | g.20005752G>C | CA345950367 | MATN3 | c.782C>G (p.Thr261Ser) | |
2 | g.20005752G>T | CA345950368 | MATN3 | c.782C>A (p.Thr261Asn) | |
2 | g.20005753T>A | CA345950369 | MATN3 | c.781A>T (p.Thr261Ser) | |
2 | g.20005753T>C | CA345950370 | MATN3 | c.781A>G (p.Thr261Ala) | |
2 | g.20005753T>G | CA345950371 | MATN3 | c.781A>C (p.Thr261Pro) | |
2 | g.20005754T>A | CA345950372 | MATN3 | c.780A>T (p.Glu260Asp) | |
2 | g.20005754T>C | CA425117084 | MATN3 | c.780A>G (p.Glu260=) | dbSNP gnomAD v2 |
2 | g.20005754T>G | CA345950373 | MATN3 | c.780A>C (p.Glu260Asp) | |
2 | g.20005754T= | CA2493007813 | MATN3 | c.780A= (p.Glu260=) | |
2 | g.20005755T>A | CA345950376 | MATN3 | c.779A>T (p.Glu260Val) | |
2 | g.20005755T>C | CA345950375 | MATN3 | c.779A>G (p.Glu260Gly) | |
2 | g.20005755T>G | CA345950374 | MATN3 | c.779A>C (p.Glu260Ala) | |
2 | g.20005756C>A | CA345950377 | MATN3 | c.778G>T (p.Glu260Ter) | gnomAD v4 |
2 | g.20005756C= | CA2493007814 | MATN3 | c.778G= (p.Glu260=) | |
2 | g.20005756C>G | CA345950378 | MATN3 | c.778G>C (p.Glu260Gln) | dbSNP |
2 | g.20005756C>T | CA345950379 | MATN3 | c.778G>A (p.Glu260Lys) | COSMIC |
2 | g.20005757C>A | CA345950380 | MATN3 | c.777G>T (p.Gln259His) | gnomAD v4 |
2 | g.20005757C>G | CA345950381 | MATN3 | c.777G>C (p.Gln259His) | |
2 | g.20005757C>T | CA425117086 | MATN3 | c.777G>A (p.Gln259=) | |
2 | g.20005758T>A | CA345950382 | MATN3 | c.776A>T (p.Gln259Leu) | |
2 | g.20005758T>C | CA345950383 | MATN3 | c.776A>G (p.Gln259Arg) | |
2 | g.20005758T>G | CA345950384 | MATN3 | c.776A>C (p.Gln259Pro) | |
2 | g.20005759G>A | CA345950385 | MATN3 | c.775C>T (p.Gln259Ter) | |
2 | g.20005759G>C | CA345950386 | MATN3 | c.775C>G (p.Gln259Glu) | |
2 | g.20005759G>T | CA345950387 | MATN3 | c.775C>A (p.Gln259Lys) | |
2 | g.20005760G>A | CA425117087 | MATN3 | c.774C>T (p.Phe258=) | |
2 | g.20005760G>C | CA345950388 | MATN3 | c.774C>G (p.Phe258Leu) | |
2 | g.20005760G>T | CA345950389 | MATN3 | c.774C>A (p.Phe258Leu) | |
2 | g.20005761A>C | CA345950391 | MATN3 | c.773T>G (p.Phe258Cys) | |
2 | g.20005761A>G | CA345950392 | MATN3 | c.773T>C (p.Phe258Ser) | |
2 | g.20005761A>T | CA345950390 | MATN3 | c.773T>A (p.Phe258Tyr) | |
2 | g.20005762A= | CA2493007815 | MATN3 | c.772T= (p.Phe258=) | |
2 | g.20005762A>C | CA1543908 | MATN3 | c.772T>G (p.Phe258Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005762A>G | CA345950393 | MATN3 | c.772T>C (p.Phe258Leu) | |
2 | g.20005762A>T | CA345950394 | MATN3 | c.772T>A (p.Phe258Ile) | |
2 | g.20005763T>A | CA345950395 | MATN3 | c.771A>T (p.Arg257Ser) | |
2 | g.20005763T>C | CA425340805 | MATN3 | c.771A>G (p.Arg257=) | |
2 | g.20005763T>G | CA345950396 | MATN3 | c.771A>C (p.Arg257Ser) | |
2 | g.20005764C>A | CA345950397 | MATN3 | c.770G>T (p.Arg257Ile) | |
2 | g.20005764C>G | CA345950399 | MATN3 | c.770G>C (p.Arg257Thr) | |
2 | g.20005764C>T | CA345950398 | MATN3 | c.770G>A (p.Arg257Lys) | |
2 | g.20005765T>A | CA345950400 | MATN3 | c.769A>T (p.Arg257Ter) | |
2 | g.20005765T>C | CA345950401 | MATN3 | c.769A>G (p.Arg257Gly) | dbSNP |
2 | g.20005765T>G | CA425340808 | MATN3 | c.769A>C (p.Arg257=) | |
2 | g.20005765T= | CA2493007816 | MATN3 | c.769A= (p.Arg257=) | |
2 | g.20005766A= | CA2493007817 | MATN3 | c.768T= (p.Ser256=) | |
2 | g.20005766A>C | CA1543909 | MATN3 | c.768T>G (p.Ser256=) | dbSNP ExAC gnomAD v4 |
2 | g.20005766A>G | CA425340811 | MATN3 | c.768T>C (p.Ser256=) | |
2 | g.20005766A>T | CA425340810 | MATN3 | c.768T>A (p.Ser256=) | |
2 | g.20005767G>A | CA345950404 | MATN3 | c.767C>T (p.Ser256Phe) | |
2 | g.20005767G>C | CA345950402 | MATN3 | c.767C>G (p.Ser256Cys) | |
2 | g.20005767G>T | CA345950403 | MATN3 | c.767C>A (p.Ser256Tyr) | |
2 | g.20005768A>C | CA345950405 | MATN3 | c.766T>G (p.Ser256Ala) | |
2 | g.20005768A>G | CA345950406 | MATN3 | c.766T>C (p.Ser256Pro) | |
2 | g.20005768A>T | CA345950407 | MATN3 | c.766T>A (p.Ser256Thr) | |
2 | g.20005769G>A | CA425340815 | MATN3 | c.765C>T (p.Ser255=) | dbSNP gnomAD v4 |
2 | g.20005769G>C | CA425340816 | MATN3 | c.765C>G (p.Ser255=) | |
2 | g.20005769G= | CA2493007818 | MATN3 | c.765C= (p.Ser255=) | |
2 | g.20005769G>T | CA425340817 | MATN3 | c.765C>A (p.Ser255=) | |
2 | g.20005770G>A | CA345950408 | MATN3 | c.764C>T (p.Ser255Phe) | dbSNP gnomAD v2 |
2 | g.20005770G>C | CA345950409 | MATN3 | c.764C>G (p.Ser255Cys) | |
2 | g.20005770G= | CA2493007819 | MATN3 | c.764C= (p.Ser255=) | |
2 | g.20005770G>T | CA345950410 | MATN3 | c.764C>A (p.Ser255Tyr) | |
2 | g.20005771A>C | CA345950411 | MATN3 | c.763T>G (p.Ser255Ala) | gnomAD v4 |
2 | g.20005771A>G | CA345950412 | MATN3 | c.763T>C (p.Ser255Pro) | |
2 | g.20005771A>T | CA345950413 | MATN3 | c.763T>A (p.Ser255Thr) | |
2 | g.20005772A= | CA2493007820 | MATN3 | c.762T= (p.Leu254=) | |
2 | g.20005772A>C | CA425340821 | MATN3 | c.762T>G (p.Leu254=) | ClinVar dbSNP |
2 | g.20005772A>G | CA425340822 | MATN3 | c.762T>C (p.Leu254=) | gnomAD v4 |
2 | g.20005772A>T | CA425340823 | MATN3 | c.762T>A (p.Leu254=) | |
2 | g.20005773A>C | CA345950414 | MATN3 | c.761T>G (p.Leu254Arg) | gnomAD v4 |
2 | g.20005773A>G | CA345950415 | MATN3 | c.761T>C (p.Leu254Pro) | gnomAD v4 |
2 | g.20005773A>T | CA345950416 | MATN3 | c.761T>A (p.Leu254His) | |
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 |