| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46003468_46003480delinsACCAAGCGCTTCG | CA2392441692 | COL6A1 | n.941_953delinsACCAAGCGCTTCG c.668_680delinsACCAAGCGCTTCG c.2542_2554delinsACCAAGCGCTTCG (p.Thr848=) n.330_342delinsACCAAGCGCTTCG n.776_788delinsACCAAGCGCTTCG c.2536_2548delinsACCAAGCGCTTCG (p.Thr846=) | |
| 21 | g.46003477_46003488del | CA920320237 | COL6A1 | n.950_961del c.677_688del c.2551_2562del (p.Phe851_Arg854del) n.339_350del n.785_796del c.2545_2556del (p.Phe849_Arg852del) | ClinVar dbSNP gnomAD v4 |
| 21 | g.46003480_46003503del | CA2577629148 | COL6A1 | n.953_976del c.680_703del c.2554_2577del (p.Ala852_Phe859del) n.342_365del n.788_811del c.2548_2571del (p.Ala850_Phe857del) | |
| 21 | g.46003475G>A | CA147380 | COL6A1 | n.948G>A c.675G>A c.2549G>A (p.Arg850His) n.337G>A n.783G>A c.2543G>A (p.Arg848His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46003475G>C | CA410539518 | COL6A1 | n.948G>C c.675G>C c.2549G>C (p.Arg850Pro) n.337G>C n.783G>C c.2543G>C (p.Arg848Pro) | |
| 21 | g.46003475G= | CA2392441696 | COL6A1 | n.948G= c.675G= c.2549G= (p.Arg850=) n.337G= n.783G= c.2543G= (p.Arg848=) | |
| 21 | g.46003475G>T | CA410539517 | COL6A1 | n.948G>T c.675G>T c.2549G>T (p.Arg850Leu) n.337G>T n.783G>T c.2543G>T (p.Arg848Leu) | dbSNP |
| 21 | g.46003476C>A | CA512718988 | COL6A1 | n.949C>A c.676C>A c.2550C>A (p.Arg850=) n.338C>A n.784C>A c.2544C>A (p.Arg848=) | gnomAD v4 |
| 21 | g.46003476C>G | CA512718990 | COL6A1 | n.949C>G c.676C>G c.2550C>G (p.Arg850=) n.338C>G n.784C>G c.2544C>G (p.Arg848=) | |
| 21 | g.46003476C>T | CA512718992 | COL6A1 | n.949C>T c.676C>T c.2550C>T (p.Arg850=) n.338C>T n.784C>T c.2544C>T (p.Arg848=) | |
| 21 | g.46003477T>A | CA410539522 | COL6A1 | n.950T>A c.677T>A c.2551T>A (p.Phe851Ile) n.339T>A n.785T>A c.2545T>A (p.Phe849Ile) | |
| 21 | g.46003477T>C | CA410539524 | COL6A1 | n.950T>C c.677T>C c.2551T>C (p.Phe851Leu) n.339T>C n.785T>C c.2545T>C (p.Phe849Leu) | gnomAD v4 |
| 21 | g.46003477T>G | CA410539526 | COL6A1 | n.950T>G c.677T>G c.2551T>G (p.Phe851Val) n.339T>G n.785T>G c.2545T>G (p.Phe849Val) | |
| 21 | g.46003478T>A | CA410539529 | COL6A1 | n.951T>A c.678T>A c.2552T>A (p.Phe851Tyr) n.340T>A n.786T>A c.2546T>A (p.Phe849Tyr) | |
| 21 | g.46003478T>C | CA410539531 | COL6A1 | n.951T>C c.678T>C c.2552T>C (p.Phe851Ser) n.340T>C n.786T>C c.2546T>C (p.Phe849Ser) | |
| 21 | g.46003478T>G | CA410539533 | COL6A1 | n.951T>G c.678T>G c.2552T>G (p.Phe851Cys) n.340T>G n.786T>G c.2546T>G (p.Phe849Cys) | |
| 21 | g.46003479C>A | CA410539535 | COL6A1 | n.952C>A c.679C>A c.2553C>A (p.Phe851Leu) n.341C>A n.787C>A c.2547C>A (p.Phe849Leu) | |
| 21 | g.46003479C= | CA2392441697 | COL6A1 | n.952C= c.679C= c.2553C= (p.Phe851=) n.341C= n.787C= c.2547C= (p.Phe849=) | |
| 21 | g.46003479C>G | CA410539536 | COL6A1 | n.952C>G c.679C>G c.2553C>G (p.Phe851Leu) n.341C>G n.787C>G c.2547C>G (p.Phe849Leu) | gnomAD v4 |
| 21 | g.46003479C>T | CA10070955 | COL6A1 | n.952C>T c.679C>T c.2553C>T (p.Phe851=) n.341C>T n.787C>T c.2547C>T (p.Phe849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46003480G>A | CA10070956 | COL6A1 | n.953G>A c.680G>A c.2554G>A (p.Ala852Thr) n.342G>A n.788G>A c.2548G>A (p.Ala850Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.46003480G>C | CA10604808 | COL6A1 | n.953G>C c.680G>C c.2554G>C (p.Ala852Pro) n.342G>C n.788G>C c.2548G>C (p.Ala850Pro) | ClinVar dbSNP gnomAD v4 |
| 21 | g.46003480G= | CA2392441698 | COL6A1 | n.953G= c.680G= c.2554G= (p.Ala852=) n.342G= n.788G= c.2548G= (p.Ala850=) | |
| 21 | g.46003480G>T | CA410539545 | COL6A1 | n.953G>T c.680G>T c.2554G>T (p.Ala852Ser) n.342G>T n.788G>T c.2548G>T (p.Ala850Ser) | gnomAD v4 |
| 21 | g.46003481C>A | CA410539550 | COL6A1 | n.954C>A c.681C>A c.2555C>A (p.Ala852Asp) n.343C>A n.789C>A c.2549C>A (p.Ala850Asp) | |
| 21 | g.46003481C>G | CA410539551 | COL6A1 | n.954C>G c.681C>G c.2555C>G (p.Ala852Gly) n.343C>G n.789C>G c.2549C>G (p.Ala850Gly) | |
| 21 | g.46003481C>T | CA410539547 | COL6A1 | n.954C>T c.681C>T c.2555C>T (p.Ala852Val) n.343C>T n.789C>T c.2549C>T (p.Ala850Val) | |
| 21 | g.46003482C>A | CA513169729 | COL6A1 | n.955C>A c.682C>A c.2556C>A (p.Ala852=) n.344C>A n.790C>A c.2550C>A (p.Ala850=) | gnomAD v4 |
| 21 | g.46003482C>G | CA513169730 | COL6A1 | n.955C>G c.682C>G c.2556C>G (p.Ala852=) n.344C>G n.790C>G c.2550C>G (p.Ala850=) | |
| 21 | g.46003482C>T | CA513169731 | COL6A1 | n.955C>T c.682C>T c.2556C>T (p.Ala852=) n.344C>T n.790C>T c.2550C>T (p.Ala850=) | gnomAD v4 |
| 21 | g.46003483A>C | CA410539553 | COL6A1 | n.956A>C c.683A>C c.2557A>C (p.Lys853Gln) n.345A>C n.791A>C c.2551A>C (p.Lys851Gln) | |
| 21 | g.46003483A>G | CA410539554 | COL6A1 | n.956A>G c.683A>G c.2557A>G (p.Lys853Glu) n.345A>G n.791A>G c.2551A>G (p.Lys851Glu) | |
| 21 | g.46003483A>T | CA410539555 | COL6A1 | n.956A>T c.683A>T c.2557A>T (p.Lys853Ter) n.345A>T n.791A>T c.2551A>T (p.Lys851Ter) | |
| 21 | g.46003484A>C | CA410539557 | COL6A1 | n.957A>C c.684A>C c.2558A>C (p.Lys853Thr) n.346A>C n.792A>C c.2552A>C (p.Lys851Thr) | |
| 21 | g.46003484A>G | CA410539558 | COL6A1 | n.957A>G c.684A>G c.2558A>G (p.Lys853Arg) n.346A>G n.792A>G c.2552A>G (p.Lys851Arg) | |
| 21 | g.46003484A>T | CA410539560 | COL6A1 | n.957A>T c.684A>T c.2558A>T (p.Lys853Met) n.346A>T n.792A>T c.2552A>T (p.Lys851Met) | gnomAD v4 |
| 21 | g.46003485G>A | CA513169736 | COL6A1 | n.958G>A c.685G>A c.2559G>A (p.Lys853=) n.347G>A n.793G>A c.2553G>A (p.Lys851=) | dbSNP gnomAD v4 |
| 21 | g.46003485G>C | CA410539561 | COL6A1 | n.958G>C c.685G>C c.2559G>C (p.Lys853Asn) n.347G>C n.793G>C c.2553G>C (p.Lys851Asn) | |
| 21 | g.46003485G= | CA2392441699 | COL6A1 | n.958G= c.685G= c.2559G= (p.Lys853=) n.347G= n.793G= c.2553G= (p.Lys851=) | |
| 21 | g.46003485G>T | CA410539563 | COL6A1 | n.958G>T c.685G>T c.2559G>T (p.Lys853Asn) n.347G>T n.793G>T c.2553G>T (p.Lys851Asn) | |
| 21 | g.46003486C>A | CA410539566 | COL6A1 | n.959C>A c.686C>A c.2560C>A (p.Arg854Ser) n.348C>A n.794C>A c.2554C>A (p.Arg852Ser) | |
| 21 | g.46003486C= | CA2392441700 | COL6A1 | n.959C= c.686C= c.2560C= (p.Arg854=) n.348C= n.794C= c.2554C= (p.Arg852=) | |
| 21 | g.46003486C>G | CA410539570 | COL6A1 | n.959C>G c.686C>G c.2560C>G (p.Arg854Gly) n.348C>G n.794C>G c.2554C>G (p.Arg852Gly) | |
| 21 | g.46003486C>T | CA10070957 | COL6A1 | n.959C>T c.686C>T c.2560C>T (p.Arg854Cys) n.348C>T n.794C>T c.2554C>T (p.Arg852Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46003487G>A | CA10070958 | COL6A1 | n.960G>A c.687G>A c.2561G>A (p.Arg854His) n.349G>A n.795G>A c.2555G>A (p.Arg852His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46003487G>C | CA410539584 | COL6A1 | n.960G>C c.687G>C c.2561G>C (p.Arg854Pro) n.349G>C n.795G>C c.2555G>C (p.Arg852Pro) | |
| 21 | g.46003487G= | CA2392441701 | COL6A1 | n.960G= c.687G= c.2561G= (p.Arg854=) n.349G= n.795G= c.2555G= (p.Arg852=) | |
| 21 | g.46003487G>T | CA410539580 | COL6A1 | n.960G>T c.687G>T c.2561G>T (p.Arg854Leu) n.349G>T n.795G>T c.2555G>T (p.Arg852Leu) | gnomAD v4 |
| 21 | g.46003488C>A | CA513169740 | COL6A1 | n.961C>A c.688C>A c.2562C>A (p.Arg854=) n.350C>A n.796C>A c.2556C>A (p.Arg852=) | |
| 21 | g.46003488C= | CA2392441702 | COL6A1 | n.961C= c.688C= c.2562C= (p.Arg854=) n.350C= n.796C= c.2556C= (p.Arg852=) |