Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.45987902_45990422del | CA2573320392 | COL6A1 | c.804+248_1002del | |
21 | g.45988512_45989657delinsTCCCTCCCCATTTCC | CA127114 | COL6A1 | c.805-572_903+5delinsTCCCTCCCCATTTCC | ClinVar |
21 | g.45989085_45989653del | CA916084262 | COL6A1 | c.806_903+1del | |
21 | g.45989100C>A | CA410521464 | COL6A1 | c.821C>A (p.Pro274Gln) | |
21 | g.45989100C= | CA2392433327 | COL6A1 | c.821C= (p.Pro274=) | |
21 | g.45989100C>G | CA410521467 | COL6A1 | c.821C>G (p.Pro274Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45989100C>T | CA275469 | COL6A1 | c.821C>T (p.Pro274Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989101G>A | CA10606841 | COL6A1 | c.822G>A (p.Pro274=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989101G>C | CA512712293 | COL6A1 | c.822G>C (p.Pro274=) | |
21 | g.45989101G= | CA2392433328 | COL6A1 | c.822G= (p.Pro274=) | |
21 | g.45989101G>T | CA512712295 | COL6A1 | c.822G>T (p.Pro274=) | dbSNP |
21 | g.45989102G>A | CA410521473 | COL6A1 | c.823G>A (p.Gly275Arg) | ClinVar dbSNP |
21 | g.45989102G>C | CA410521475 | COL6A1 | c.823G>C (p.Gly275Arg) | ClinVar dbSNP |
21 | g.45989102G= | CA2392433329 | COL6A1 | c.823G= (p.Gly275=) | |
21 | g.45989102G>T | CA410521476 | COL6A1 | c.823G>T (p.Gly275Trp) | ClinVar dbSNP |
21 | g.45989103G>A | CA410521479 | COL6A1 | c.824G>A (p.Gly275Glu) | ClinVar dbSNP |
21 | g.45989103G>C | CA410521480 | COL6A1 | c.824G>C (p.Gly275Ala) | |
21 | g.45989103G= | CA2392433330 | COL6A1 | c.824G= (p.Gly275=) | |
21 | g.45989103G>T | CA410521483 | COL6A1 | c.824G>T (p.Gly275Val) | ClinVar dbSNP |
21 | g.45989103_45989117del | CA2695230385 | COL6A1 | c.824_838del (p.Gly275_Lys280delinsGlu) | |
21 | g.45989104G>A | CA512712313 | COL6A1 | c.825G>A (p.Gly275=) | |
21 | g.45989104G>C | CA512712311 | COL6A1 | c.825G>C (p.Gly275=) | |
21 | g.45989104G>T | CA512712310 | COL6A1 | c.825G>T (p.Gly275=) | |
21 | g.45989105C>A | CA410521492 | COL6A1 | c.826C>A (p.Leu276Ile) | |
21 | g.45989105C= | CA2392433331 | COL6A1 | c.826C= (p.Leu276=) | |
21 | g.45989105C>G | CA410521489 | COL6A1 | c.826C>G (p.Leu276Val) | |
21 | g.45989105C>T | CA410521486 | COL6A1 | c.826C>T (p.Leu276Phe) | ClinVar dbSNP gnomAD v4 |
21 | g.45989106T>A | CA410521493 | COL6A1 | c.827T>A (p.Leu276His) | |
21 | g.45989106T>C | CA410521494 | COL6A1 | c.827T>C (p.Leu276Pro) | |
21 | g.45989106T>G | CA410521498 | COL6A1 | c.827T>G (p.Leu276Arg) | |
21 | g.45989107C>A | CA512712324 | COL6A1 | c.828C>A (p.Leu276=) | |
21 | g.45989107C= | CA2392433332 | COL6A1 | c.828C= (p.Leu276=) | |
21 | g.45989107C>G | CA512712326 | COL6A1 | c.828C>G (p.Leu276=) | |
21 | g.45989107C>T | CA512712328 | COL6A1 | c.828C>T (p.Leu276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989108C>A | CA410521500 | COL6A1 | c.829C>A (p.Pro277Thr) | |
21 | g.45989108C= | CA2392433333 | COL6A1 | c.829C= (p.Pro277=) | |
21 | g.45989108C>G | CA10069783 | COL6A1 | c.829C>G (p.Pro277Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989108C>T | CA410521505 | COL6A1 | c.829C>T (p.Pro277Ser) | ClinVar dbSNP |
21 | g.45989109C>A | CA410521507 | COL6A1 | c.830C>A (p.Pro277Gln) | |
21 | g.45989109C>G | CA410521510 | COL6A1 | c.830C>G (p.Pro277Arg) | |
21 | g.45989109C>T | CA410521513 | COL6A1 | c.830C>T (p.Pro277Leu) | gnomAD v4 |
21 | g.45989110A>C | CA512712342 | COL6A1 | c.831A>C (p.Pro277=) | |
21 | g.45989110A>G | CA512712345 | COL6A1 | c.831A>G (p.Pro277=) | gnomAD v4 |
21 | g.45989110A>T | CA512712347 | COL6A1 | c.831A>T (p.Pro277=) | |
21 | g.45989111G>A | CA410521515 | COL6A1 | c.832G>A (p.Gly278Arg) | COSMIC |
21 | g.45989111G>C | CA410521517 | COL6A1 | c.832G>C (p.Gly278Arg) | |
21 | g.45989111G>T | CA410521519 | COL6A1 | c.832G>T (p.Gly278Ter) | |
21 | g.45989112G>A | CA10605117 | COL6A1 | c.833G>A (p.Gly278Glu) | ClinVar dbSNP |
21 | g.45989112G>C | CA410521523 | COL6A1 | c.833G>C (p.Gly278Ala) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45989112G= | CA2392433334 | COL6A1 | c.833G= (p.Gly278=) |