UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45990760_45990776delinsTTCCTCTTTCCAGGGGG | CA2392434425 | COL6A1 | c.1003-13_1006delinsTTCCTCTTTCCAGGGGG | |
| 21 | g.45990761_45990776delinsGGA | CA658799469 | COL6A1 | c.1003-12_1006delinsGGA | ClinVar dbSNP |
| 21 | g.45990774_45990827del | CA221747 | COL6A1 | c.1004_1056+1del | |
| 21 | g.45990774G>A | CA410523318 | COL6A1 | c.1004G>A (p.Gly335Glu) | |
| 21 | g.45990774G>C | CA410523319 | COL6A1 | c.1004G>C (p.Gly335Ala) | |
| 21 | g.45990774G>T | CA410523320 | COL6A1 | c.1004G>T (p.Gly335Val) | |
| 21 | g.45990775G>A | CA512714690 | COL6A1 | c.1005G>A (p.Gly335=) | ClinVar |
| 21 | g.45990775G>C | CA512714693 | COL6A1 | c.1005G>C (p.Gly335=) | |
| 21 | g.45990775G= | CA2392434433 | COL6A1 | c.1005G= (p.Gly335=) | |
| 21 | g.45990775G>T | CA10070033 | COL6A1 | c.1005G>T (p.Gly335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990776G>A | CA410523321 | COL6A1 | c.1006G>A (p.Glu336Lys) | |
| 21 | g.45990776G>C | CA410523322 | COL6A1 | c.1006G>C (p.Glu336Gln) | gnomAD v4 |
| 21 | g.45990776G>T | CA410523323 | COL6A1 | c.1006G>T (p.Glu336Ter) | |
| 21 | g.45990777A= | CA2392434434 | COL6A1 | c.1007A= (p.Glu336=) | |
| 21 | g.45990777A>C | CA410523326 | COL6A1 | c.1007A>C (p.Glu336Ala) | dbSNP gnomAD v4 |
| 21 | g.45990777A>G | CA410523324 | COL6A1 | c.1007A>G (p.Glu336Gly) | |
| 21 | g.45990777A>T | CA410523325 | COL6A1 | c.1007A>T (p.Glu336Val) | |
| 21 | g.45990778G>A | CA512714710 | COL6A1 | c.1008G>A (p.Glu336=) | |
| 21 | g.45990778G>C | CA410523327 | COL6A1 | c.1008G>C (p.Glu336Asp) | gnomAD v4 |
| 21 | g.45990778G>T | CA410523328 | COL6A1 | c.1008G>T (p.Glu336Asp) | |
| 21 | g.45990779A>C | CA410523329 | COL6A1 | c.1009A>C (p.Met337Leu) | |
| 21 | g.45990779A>G | CA410523330 | COL6A1 | c.1009A>G (p.Met337Val) | |
| 21 | g.45990779A>T | CA410523331 | COL6A1 | c.1009A>T (p.Met337Leu) | |
| 21 | g.45990780T>A | CA410523332 | COL6A1 | c.1010T>A (p.Met337Lys) | |
| 21 | g.45990780T>C | CA410523333 | COL6A1 | c.1010T>C (p.Met337Thr) | |
| 21 | g.45990780T>G | CA410523334 | COL6A1 | c.1010T>G (p.Met337Arg) | |
| 21 | g.45990780_45990781delinsTG | CA2392434435 | COL6A1 | c.1010_1011delinsTG (p.Met337=) | |
| 21 | g.45990781G>A | CA410523335 | COL6A1 | c.1011G>A (p.Met337Ile) | |
| 21 | g.45990781G>C | CA10070035 | COL6A1 | c.1011G>C (p.Met337Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990781G= | CA2392434436 | COL6A1 | c.1011G= (p.Met337=) | |
| 21 | g.45990781G>T | CA410523336 | COL6A1 | c.1011G>T (p.Met337Ile) | |
| 21 | g.45990784del | CA10070034 | COL6A1 | c.1014del (p.Tyr339ThrfsTer?) | dbSNP ExAC gnomAD v2 |
| 21 | g.45990782G>A | CA410523337 | COL6A1 | c.1012G>A (p.Gly338Arg) | |
| 21 | g.45990782G>C | CA410523339 | COL6A1 | c.1012G>C (p.Gly338Arg) | |
| 21 | g.45990782G>T | CA410523338 | COL6A1 | c.1012G>T (p.Gly338Trp) | COSMIC |
| 21 | g.45990783G>A | CA240292 | COL6A1 | c.1013G>A (p.Gly338Glu) | ClinVar dbSNP |
| 21 | g.45990783G>C | CA410523341 | COL6A1 | c.1013G>C (p.Gly338Ala) | |
| 21 | g.45990783G= | CA2392434437 | COL6A1 | c.1013G= (p.Gly338=) | |
| 21 | g.45990783G>T | CA410523340 | COL6A1 | c.1013G>T (p.Gly338Val) | |
| 21 | g.45990784G>A | CA512714738 | COL6A1 | c.1014G>A (p.Gly338=) | dbSNP gnomAD v4 |
| 21 | g.45990784G>C | CA512714740 | COL6A1 | c.1014G>C (p.Gly338=) | |
| 21 | g.45990784G= | CA2392434438 | COL6A1 | c.1014G= (p.Gly338=) | |
| 21 | g.45990784G>T | CA512714742 | COL6A1 | c.1014G>T (p.Gly338=) | |
| 21 | g.45990785T>A | CA410523342 | COL6A1 | c.1015T>A (p.Tyr339Asn) | |
| 21 | g.45990785T>C | CA10070036 | COL6A1 | c.1015T>C (p.Tyr339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990785T>G | CA410523343 | COL6A1 | c.1015T>G (p.Tyr339Asp) | |
| 21 | g.45990785T= | CA2392434439 | COL6A1 | c.1015T= (p.Tyr339=) | |
| 21 | g.45990786A>C | CA410523345 | COL6A1 | c.1016A>C (p.Tyr339Ser) | |
| 21 | g.45990786A>G | CA410523346 | COL6A1 | c.1016A>G (p.Tyr339Cys) | gnomAD v4 |
| 21 | g.45990786A>T | CA410523348 | COL6A1 | c.1016A>T (p.Tyr339Phe) | |
| 21 | g.45990787C>A | CA410523349 | COL6A1 | c.1017C>A (p.Tyr339Ter) | |
| 21 | g.45990787C>G | CA410523351 | COL6A1 | c.1017C>G (p.Tyr339Ter) | |
| 21 | g.45990787C>T | CA512714755 | COL6A1 | c.1017C>T (p.Tyr339=) | gnomAD v4 |
| 21 | g.45990787_45990796delinsCCCAGGCCTG | CA2392434440 | COL6A1 | c.1017_1026delinsCCCAGGCCTG (p.Tyr339=) | |
| 21 | g.45990788C>A | CA410523354 | COL6A1 | c.1018C>A (p.Pro340Thr) | |
| 21 | g.45990788C>G | CA410523355 | COL6A1 | c.1018C>G (p.Pro340Ala) | gnomAD v4 |
| 21 | g.45990788C>T | CA410523357 | COL6A1 | c.1018C>T (p.Pro340Ser) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45990794_45990802del | CA221744 | COL6A1 | c.1024_1032del (p.Leu342_Gly344del) | ClinVar dbSNP |
| 21 | g.45990789C>A | CA410523364 | COL6A1 | c.1019C>A (p.Pro340Gln) | |
| 21 | g.45990789C>G | CA410523360 | COL6A1 | c.1019C>G (p.Pro340Arg) | |
| 21 | g.45990789C>T | CA410523362 | COL6A1 | c.1019C>T (p.Pro340Leu) | |
| 21 | g.45990790A= | CA2392434441 | COL6A1 | c.1020A= (p.Pro340=) | |
| 21 | g.45990790A>C | CA512714777 | COL6A1 | c.1020A>C (p.Pro340=) | dbSNP |
| 21 | g.45990790A>G | CA512714779 | COL6A1 | c.1020A>G (p.Pro340=) | |
| 21 | g.45990790A>T | CA512714782 | COL6A1 | c.1020A>T (p.Pro340=) | |
| 21 | g.45990791G>A | CA410523366 | COL6A1 | c.1021G>A (p.Gly341Ser) | dbSNP |
| 21 | g.45990791G>C | CA410523368 | COL6A1 | c.1021G>C (p.Gly341Arg) | ClinVar dbSNP |
| 21 | g.45990791G= | CA2392434442 | COL6A1 | c.1021G= (p.Gly341=) | |
| 21 | g.45990791G>T | CA10605376 | COL6A1 | c.1021G>T (p.Gly341Cys) | ClinVar dbSNP |
| 21 | g.45990791_45990797delinsGGCCTGC | CA2392434443 | COL6A1 | c.1021_1027delinsGGCCTGC (p.Gly341=) | |
| 21 | g.45990792G>A | CA257736 | COL6A1 | c.1022G>A (p.Gly341Asp) | ClinVar dbSNP COSMIC |
| 21 | g.45990792G>C | CA410523372 | COL6A1 | c.1022G>C (p.Gly341Ala) | |
| 21 | g.45990792G= | CA2392434444 | COL6A1 | c.1022G= (p.Gly341=) | |
| 21 | g.45990792G>T | CA10604208 | COL6A1 | c.1022G>T (p.Gly341Val) | ClinVar dbSNP |
| 21 | g.45990792_45990797del | CA512714793 | COL6A1 | c.1022_1027del (p.Gly341_Pro343delinsAla) | dbSNP |
| 21 | g.45990793C>A | CA512714800 | COL6A1 | c.1023C>A (p.Gly341=) | |
| 21 | g.45990793C>G | CA512714802 | COL6A1 | c.1023C>G (p.Gly341=) | |
| 21 | g.45990793C>T | CA512714805 | COL6A1 | c.1023C>T (p.Gly341=) | ClinVar |
| 21 | g.45990793_45990798del | CA410523375 | COL6A1 | c.1023_1028del (p.Leu342_Pro343del) | |
| 21 | g.45990794C>A | CA410523378 | COL6A1 | c.1024C>A (p.Leu342Met) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990794C= | CA2392434445 | COL6A1 | c.1024C= (p.Leu342=) | |
| 21 | g.45990794C>G | CA410523380 | COL6A1 | c.1024C>G (p.Leu342Val) | |
| 21 | g.45990794C>T | CA512714811 | COL6A1 | c.1024C>T (p.Leu342=) | |
| 21 | g.45990797_45990902del | CA2573157631 | COL6A1 | c.1027_1057-77del | ClinVar dbSNP |
| 21 | g.45990795T>A | CA410523383 | COL6A1 | c.1025T>A (p.Leu342Gln) | |
| 21 | g.45990795T>C | CA410523385 | COL6A1 | c.1025T>C (p.Leu342Pro) | |
| 21 | g.45990795T>G | CA410523382 | COL6A1 | c.1025T>G (p.Leu342Arg) | |
| 21 | g.45990796G>A | CA512714819 | COL6A1 | c.1026G>A (p.Leu342=) | |
| 21 | g.45990796G>C | CA512714823 | COL6A1 | c.1026G>C (p.Leu342=) | |
| 21 | g.45990796G>T | CA512714820 | COL6A1 | c.1026G>T (p.Leu342=) | |
| 21 | g.45990797C>A | CA410523387 | COL6A1 | c.1027C>A (p.Pro343Thr) | |
| 21 | g.45990797C= | CA2392434446 | COL6A1 | c.1027C= (p.Pro343=) | |
| 21 | g.45990797C>G | CA410523388 | COL6A1 | c.1027C>G (p.Pro343Ala) | |
| 21 | g.45990797C>T | CA410523390 | COL6A1 | c.1027C>T (p.Pro343Ser) | dbSNP gnomAD v4 |
| 21 | g.45990798C>A | CA410523392 | COL6A1 | c.1028C>A (p.Pro343Gln) | |
| 21 | g.45990798C>G | CA410523393 | COL6A1 | c.1028C>G (p.Pro343Arg) | |
| 21 | g.45990798C>T | CA410523395 | COL6A1 | c.1028C>T (p.Pro343Leu) | |
| 21 | g.45990799A= | CA2392434447 | COL6A1 | c.1029A= (p.Pro343=) | |
| 21 | g.45990799A>C | CA512714835 | COL6A1 | c.1029A>C (p.Pro343=) | ClinVar dbSNP |
| 21 | g.45990799A>G | CA512714837 | COL6A1 | c.1029A>G (p.Pro343=) | |
| 21 | g.45990799A>T | CA512714839 | COL6A1 | c.1029A>T (p.Pro343=) | |
| 21 | g.45990800G>A | CA410523397 | COL6A1 | c.1030G>A (p.Gly344Ser) | |
| 21 | g.45990800G>C | CA410523399 | COL6A1 | c.1030G>C (p.Gly344Arg) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45990800G= | CA2392434448 | COL6A1 | c.1030G= (p.Gly344=) | |
| 21 | g.45990800G>T | CA410523401 | COL6A1 | c.1030G>T (p.Gly344Cys) | |
| 21 | g.45990801G>A | CA410523403 | COL6A1 | c.1031G>A (p.Gly344Asp) | |
| 21 | g.45990801G>C | CA410523404 | COL6A1 | c.1031G>C (p.Gly344Ala) | |
| 21 | g.45990801G>T | CA410523406 | COL6A1 | c.1031G>T (p.Gly344Val) | |
| 21 | g.45990802C>A | CA512714848 | COL6A1 | c.1032C>A (p.Gly344=) | |
| 21 | g.45990802C>G | CA512714850 | COL6A1 | c.1032C>G (p.Gly344=) | |
| 21 | g.45990802C>T | CA512714851 | COL6A1 | c.1032C>T (p.Gly344=) | |
| 21 | g.45990803T>A | CA410523410 | COL6A1 | c.1033T>A (p.Cys345Ser) | |
| 21 | g.45990803T>C | CA10070037 | COL6A1 | c.1033T>C (p.Cys345Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990803T>G | CA410523409 | COL6A1 | c.1033T>G (p.Cys345Gly) | |
| 21 | g.45990803T= | CA2392434449 | COL6A1 | c.1033T= (p.Cys345=) | |
| 21 | g.45990804G>A | CA410523414 | COL6A1 | c.1034G>A (p.Cys345Tyr) | |
| 21 | g.45990804G>C | CA410523415 | COL6A1 | c.1034G>C (p.Cys345Ser) | |
| 21 | g.45990804G>T | CA410523416 | COL6A1 | c.1034G>T (p.Cys345Phe) | |
| 21 | g.45990805C>A | CA410523418 | COL6A1 | c.1035C>A (p.Cys345Ter) | |
| 21 | g.45990805C= | CA2392434450 | COL6A1 | c.1035C= (p.Cys345=) | |
| 21 | g.45990805C>G | CA410523419 | COL6A1 | c.1035C>G (p.Cys345Trp) | |
| 21 | g.45990805C>T | CA512714865 | COL6A1 | c.1035C>T (p.Cys345=) | dbSNP |
| 21 | g.45990806A>C | CA410523425 | COL6A1 | c.1036A>C (p.Lys346Gln) | |
| 21 | g.45990806A>G | CA410523421 | COL6A1 | c.1036A>G (p.Lys346Glu) | |
| 21 | g.45990806A>T | CA410523423 | COL6A1 | c.1036A>T (p.Lys346Ter) | |
| 21 | g.45990807A= | CA2392434451 | COL6A1 | c.1037A= (p.Lys346=) | |
| 21 | g.45990807A>C | CA410523427 | COL6A1 | c.1037A>C (p.Lys346Thr) | gnomAD v4 |
| 21 | g.45990807A>G | CA10070038 | COL6A1 | c.1037A>G (p.Lys346Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990807A>T | CA410523429 | COL6A1 | c.1037A>T (p.Lys346Met) | |
| 21 | g.45990808G>A | CA512714880 | COL6A1 | c.1038G>A (p.Lys346=) | |
| 21 | g.45990808G>C | CA410523431 | COL6A1 | c.1038G>C (p.Lys346Asn) | dbSNP |
| 21 | g.45990808G= | CA2392434453 | COL6A1 | c.1038G= (p.Lys346=) | |
| 21 | g.45990808G>T | CA410523433 | COL6A1 | c.1038G>T (p.Lys346Asn) | |
| 21 | g.45990808_45990822delinsGGGCTCGCCCGGGTT | CA2392434452 | COL6A1 | c.1038_1052delinsGGGCTCGCCCGGGTT (p.Lys346=) | |
| 21 | g.45990809G>A | CA10070039 | COL6A1 | c.1039G>A (p.Gly347Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990809G>C | CA410523436 | COL6A1 | c.1039G>C (p.Gly347Arg) | |
| 21 | g.45990809G= | CA2392434454 | COL6A1 | c.1039G= (p.Gly347=) | |
| 21 | g.45990809G>T | CA410523439 | COL6A1 | c.1039G>T (p.Gly347Cys) | |
| 21 | g.45990809_45990822del | CA10605343 | COL6A1 | c.1039_1052del (p.Gly347Ter) | ClinVar dbSNP |
| 21 | g.45990810G>A | CA410523443 | COL6A1 | c.1040G>A (p.Gly347Asp) | gnomAD v4 |
| 21 | g.45990810G>C | CA410523441 | COL6A1 | c.1040G>C (p.Gly347Ala) | |
| 21 | g.45990810G>T | CA410523444 | COL6A1 | c.1040G>T (p.Gly347Val) | |
| 21 | g.45990811C>A | CA512714899 | COL6A1 | c.1041C>A (p.Gly347=) | |
| 21 | g.45990811C>G | CA512714901 | COL6A1 | c.1041C>G (p.Gly347=) | |
| 21 | g.45990811C>T | CA512714903 | COL6A1 | c.1041C>T (p.Gly347=) | |
| 21 | g.45990812_45990813dup | CA2573054953 | COL6A1 | c.1042_1043dup (p.Pro349ArgfsTer22) | ClinVar dbSNP |
| 21 | g.45990812T>A | CA410523447 | COL6A1 | c.1042T>A (p.Ser348Thr) | |
| 21 | g.45990812T>C | CA410523449 | COL6A1 | c.1042T>C (p.Ser348Pro) | |
| 21 | g.45990812T>G | CA410523450 | COL6A1 | c.1042T>G (p.Ser348Ala) | |
| 21 | g.45990813C>A | CA410523453 | COL6A1 | c.1043C>A (p.Ser348Ter) | |
| 21 | g.45990813C= | CA2392434455 | COL6A1 | c.1043C= (p.Ser348=) | |
| 21 | g.45990813C>G | CA410523455 | COL6A1 | c.1043C>G (p.Ser348Trp) | ClinVar dbSNP |
| 21 | g.45990813C>T | CA10070040 | COL6A1 | c.1043C>T (p.Ser348Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990814G>A | CA10070041 | COL6A1 | c.1044G>A (p.Ser348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45990814G>C | CA10070043 | COL6A1 | c.1044G>C (p.Ser348=) | ClinVar dbSNP ExAC |
| 21 | g.45990814G= | CA2392434456 | COL6A1 | c.1044G= (p.Ser348=) | |
| 21 | g.45990814G>T | CA10070042 | COL6A1 | c.1044G>T (p.Ser348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990815C>A | CA410523460 | COL6A1 | c.1045C>A (p.Pro349Thr) | |
| 21 | g.45990815C= | CA2392434457 | COL6A1 | c.1045C= (p.Pro349=) | |
| 21 | g.45990815C>G | CA410523462 | COL6A1 | c.1045C>G (p.Pro349Ala) | |
| 21 | g.45990815C>T | CA410523463 | COL6A1 | c.1045C>T (p.Pro349Ser) | dbSNP |
| 21 | g.45990816C>A | CA410523468 | COL6A1 | c.1046C>A (p.Pro349His) | |
| 21 | g.45990816C>G | CA410523467 | COL6A1 | c.1046C>G (p.Pro349Arg) | |
| 21 | g.45990816C>T | CA410523465 | COL6A1 | c.1046C>T (p.Pro349Leu) | |
| 21 | g.45990817C>A | CA10070045 | COL6A1 | c.1047C>A (p.Pro349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990817C= | CA2392434458 | COL6A1 | c.1047C= (p.Pro349=) | |
| 21 | g.45990817C>G | CA512714934 | COL6A1 | c.1047C>G (p.Pro349=) | |
| 21 | g.45990817C>T | CA10070044 | COL6A1 | c.1047C>T (p.Pro349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990818G>A | CA410523472 | COL6A1 | c.1048G>A (p.Gly350Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990818G>C | CA410523474 | COL6A1 | c.1048G>C (p.Gly350Arg) | |
| 21 | g.45990818G= | CA2392434459 | COL6A1 | c.1048G= (p.Gly350=) | |
| 21 | g.45990818G>T | CA410523475 | COL6A1 | c.1048G>T (p.Gly350Trp) | |
| 21 | g.45990819G>A | CA10070046 | COL6A1 | c.1049G>A (p.Gly350Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990819G>C | CA410523479 | COL6A1 | c.1049G>C (p.Gly350Ala) | |
| 21 | g.45990819G= | CA2392434460 | COL6A1 | c.1049G= (p.Gly350=) | |
| 21 | g.45990819G>T | CA410523480 | COL6A1 | c.1049G>T (p.Gly350Val) | |
| 21 | g.45990820G>A | CA321964985 | COL6A1 | c.1050G>A (p.Gly350=) | dbSNP |
| 21 | g.45990820G>C | CA512714950 | COL6A1 | c.1050G>C (p.Gly350=) | |
| 21 | g.45990820G= | CA2392434461 | COL6A1 | c.1050G= (p.Gly350=) | |
| 21 | g.45990820G>T | CA10070047 | COL6A1 | c.1050G>T (p.Gly350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990821T>A | CA410523483 | COL6A1 | c.1051T>A (p.Phe351Ile) | |
| 21 | g.45990821T>C | CA410523484 | COL6A1 | c.1051T>C (p.Phe351Leu) | |
| 21 | g.45990821T>G | CA410523486 | COL6A1 | c.1051T>G (p.Phe351Val) | |
| 21 | g.45990822T>A | CA410523492 | COL6A1 | c.1052T>A (p.Phe351Tyr) | |
| 21 | g.45990822T>C | CA410523490 | COL6A1 | c.1052T>C (p.Phe351Ser) | |
| 21 | g.45990822T>G | CA410523489 | COL6A1 | c.1052T>G (p.Phe351Cys) | |
| 21 | g.45990823T>A | CA410523494 | COL6A1 | c.1053T>A (p.Phe351Leu) | |
| 21 | g.45990823T>C | CA512714964 | COL6A1 | c.1053T>C (p.Phe351=) | |
| 21 | g.45990823T>G | CA410523496 | COL6A1 | c.1053T>G (p.Phe351Leu) | |
| 21 | g.45990824G>A | CA410523497 | COL6A1 | c.1054G>A (p.Asp352Asn) | |
| 21 | g.45990824G>C | CA410523499 | COL6A1 | c.1054G>C (p.Asp352His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990824G= | CA2392434462 | COL6A1 | c.1054G= (p.Asp352=) | |
| 21 | g.45990824G>T | CA410523501 | COL6A1 | c.1054G>T (p.Asp352Tyr) | |
| 21 | g.45990825A>C | CA410523507 | COL6A1 | c.1055A>C (p.Asp352Ala) | |
| 21 | g.45990825A>G | CA410523505 | COL6A1 | c.1055A>G (p.Asp352Gly) | gnomAD v4 |
| 21 | g.45990825A>T | CA410523503 | COL6A1 | c.1055A>T (p.Asp352Val) | |
| 21 | g.45990827_45990835del | CA2695230393 | COL6A1 | c.1056+1_1056+9del | |
| 21 | g.45990826C>A | CA410523509 | COL6A1 | c.1056C>A (p.Asp352Glu) | |
| 21 | g.45990826C= | CA2392434463 | COL6A1 | c.1056C= (p.Asp352=) | |
| 21 | g.45990826C>G | CA410523511 | COL6A1 | c.1056C>G (p.Asp352Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990826C>T | CA147307 | COL6A1 | c.1056C>T (p.Asp352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990826_45990827delinsCG | CA2392434464 | COL6A1 | c.1056_1056+1delinsCG | |
| 21 | g.45990827del | CA658799470 | COL6A1 | c.1056+1del (n.1056+1del) | ClinVar dbSNP |
| 21 | g.45990827G>A | CA221748 | COL6A1 | c.1056+1G>A (n.1056+1G>A) | ClinVar dbSNP |
| 21 | g.45990827G>C | CA410523515 | COL6A1 | c.1056+1G>C (n.1056+1G>C) | ClinVar dbSNP |
| 21 | g.45990827G= | CA2392434465 | COL6A1 | c.1056+1G= (n.1056+1G=) | |
| 21 | g.45990827G>T | CA410523516 | COL6A1 | c.1056+1G>T (n.1056+1G>T) | ClinVar dbSNP |
| 21 | g.45990828T>A | CA410523518 | COL6A1 | c.1056+2T>A (n.1056+2T>A) | ClinVar |
| 21 | g.45990828T>C | CA257735 | COL6A1 | c.1056+2T>C (n.1056+2T>C) | ClinVar dbSNP |
| 21 | g.45990828T>G | CA410523520 | COL6A1 | c.1056+2T>G (n.1056+2T>G) | |
| 21 | g.45990828T= | CA2392434466 | COL6A1 | c.1056+2T= (n.1056+2T=) | |
| 21 | g.45990828dup | CA2580098967 | COL6A1 | c.1056+2dup (n.1056+2dup) | ClinVar |
| 21 | g.45990829A= | CA2392434467 | COL6A1 | c.1056+3A= (n.1056+3A=) | |
| 21 | g.45990829A>C | CA1139666909 | COL6A1 | c.1056+3A>C (n.1056+3A>C) | ClinVar dbSNP |
| 21 | g.45990829A>G | CA2654972821 | COL6A1 | c.1056+3A>G (n.1056+3A>G) | gnomAD v4 |
| 21 | g.45990830A= | CA2392434468 | COL6A1 | c.1056+4A= (n.1056+4A=) | |
| 21 | g.45990830A>C | CA2392434469 | COL6A1 | c.1056+4A>C (n.1056+4A>C) | ClinVar dbSNP |
| 21 | g.45990830A>G | CA10605517 | COL6A1 | c.1056+4A>G (n.1056+4A>G) | ClinVar dbSNP |
| 21 | g.45990831G>A | CA645606014 | COL6A1 | c.1056+5G>A (n.1056+5G>A) | ClinVar dbSNP COSMIC |
| 21 | g.45990831G= | CA2392434470 | COL6A1 | c.1056+5G= (n.1056+5G=) | |
| 21 | g.45990831G>T | CA10606851 | COL6A1 | c.1056+5G>T (n.1056+5G>T) | ClinVar dbSNP |
| 21 | g.45990833C= | CA2392434471 | COL6A1 | c.1056+7C= (n.1056+7C=) | |
| 21 | g.45990833C>T | CA638179044 | COL6A1 | c.1056+7C>T (n.1056+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990834A>C | CA2577628540 | COL6A1 | c.1056+8A>C (n.1056+8A>C) | |
| 21 | g.45990834A>T | CA2654972822 | COL6A1 | c.1056+8A>T (n.1056+8A>T) | gnomAD v4 |
| 21 | g.45990835C= | CA2392434472 | COL6A1 | c.1056+9C= (n.1056+9C=) | |
| 21 | g.45990835C>G | CA2580098970 | COL6A1 | c.1056+9C>G (n.1056+9C>G) | ClinVar gnomAD v4 |
| 21 | g.45990835C>T | CA638179045 | COL6A1 | c.1056+9C>T (n.1056+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990836T>G | CA638179046 | COL6A1 | c.1056+10T>G (n.1056+10T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990836T= | CA2392434473 | COL6A1 | c.1056+10T= (n.1056+10T=) | |
| 21 | g.45990837T>A | CA2577628541 | COL6A1 | c.1056+11T>A (n.1056+11T>A) | |
| 21 | g.45990837T>C | CA2654972823 | COL6A1 | c.1056+11T>C (n.1056+11T>C) | gnomAD v4 |
| 21 | g.45990838C>A | CA2546751846 | COL6A1 | c.1056+12C>A (n.1056+12C>A) | |
| 21 | g.45990838C= | CA2392434474 | COL6A1 | c.1056+12C= (n.1056+12C=) | |
| 21 | g.45990838C>T | CA321965008 | COL6A1 | c.1056+12C>T (n.1056+12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990841C= | CA2392434475 | COL6A1 | c.1056+15C= (n.1056+15C=) | |
| 21 | g.45990841C>G | CA638179047 | COL6A1 | c.1056+15C>G (n.1056+15C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990841C>T | CA2737572946 | COL6A1 | c.1056+15C>T (n.1056+15C>T) | dbSNP |
| 21 | g.45990843C= | CA2392434476 | COL6A1 | c.1056+17C= (n.1056+17C=) | |
| 21 | g.45990843C>T | CA10070048 | COL6A1 | c.1056+17C>T (n.1056+17C>T) | dbSNP ExAC gnomAD v4 |
| 21 | g.45990844A= | CA2392434477 | COL6A1 | c.1056+18A= (n.1056+18A=) | |
| 21 | g.45990844A>C | CA2392434478 | COL6A1 | c.1056+18A>C (n.1056+18A>C) | dbSNP |
| 21 | g.45990844A>G | CA2654972824 | COL6A1 | c.1056+18A>G (n.1056+18A>G) | gnomAD v4 |
| 21 | g.45990844A>T | CA2654972825 | COL6A1 | c.1056+18A>T (n.1056+18A>T) | gnomAD v4 |
| 21 | g.45990848A= | CA2392434479 | COL6A1 | c.1056+22A= (n.1056+22A=) | |
| 21 | g.45990848A>C | CA2654972826 | COL6A1 | c.1056+22A>C (n.1056+22A>C) | gnomAD v4 |
| 21 | g.45990848A>G | CA2392434480 | COL6A1 | c.1056+22A>G (n.1056+22A>G) | dbSNP |
| 21 | g.45990849T>C | CA2654972827 | COL6A1 | c.1056+23T>C (n.1056+23T>C) | gnomAD v4 |
| 21 | g.45990850A= | CA2392434481 | COL6A1 | c.1056+24A= (n.1056+24A=) | |
| 21 | g.45990850A>G | CA321965014 | COL6A1 | c.1056+24A>G (n.1056+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990851C= | CA2392434482 | COL6A1 | c.1056+25C= (n.1056+25C=) | |
| 21 | g.45990851C>G | CA638179049 | COL6A1 | c.1056+25C>G (n.1056+25C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990851C>T | CA10070050 | COL6A1 | c.1056+25C>T (n.1056+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990851_45990852delinsCT | CA2392434483 | COL6A1 | c.1056+25_1056+26delinsCT (n.1056+25_1056+26delinsCT) | |
| 21 | g.45990852T>G | CA10070051 | COL6A1 | c.1056+26T>G (n.1056+26T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990852T= | CA2392434484 | COL6A1 | c.1056+26T= (n.1056+26T=) | |
| 21 | g.45990854del | CA10070049 | COL6A1 | c.1056+28del (n.1056+28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990852_45990862dup | CA2654972828 | COL6A1 | c.1056+26_1056+36dup (n.1056+26_1056+36dup) | gnomAD v4 |
| 21 | g.45990854T>C | CA2654972829 | COL6A1 | c.1056+28T>C (n.1056+28T>C) | gnomAD v4 |
| 21 | g.45990858A= | CA2392434485 | COL6A1 | c.1056+32A= (n.1056+32A=) | |
| 21 | g.45990858A>T | CA10070052 | COL6A1 | c.1056+32A>T (n.1056+32A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990859C= | CA2392434486 | COL6A1 | c.1056+33C= (n.1056+33C=) | |
| 21 | g.45990859C>T | CA638179050 | COL6A1 | c.1056+33C>T (n.1056+33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990860del | CA2577628542 | COL6A1 | c.1056+34del (n.1056+34del) | |
| 21 | g.45990860T>C | CA2654972830 | COL6A1 | c.1056+34T>C (n.1056+34T>C) | gnomAD v4 |
| 21 | g.45990862G>A | CA10070053 | COL6A1 | c.1056+36G>A (n.1056+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990862G= | CA2392434487 | COL6A1 | c.1056+36G= (n.1056+36G=) | |
| 21 | g.45990863C= | CA2392434488 | COL6A1 | c.1056+37C= (n.1056+37C=) | |
| 21 | g.45990863C>T | CA10070054 | COL6A1 | c.1056+37C>T (n.1056+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990864G>A | CA10070055 | COL6A1 | c.1056+38G>A (n.1056+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990864G= | CA2392434489 | COL6A1 | c.1056+38G= (n.1056+38G=) | |
| 21 | g.45990864G>T | CA2654972831 | COL6A1 | c.1056+38G>T (n.1056+38G>T) | gnomAD v4 |
| 21 | g.45990865C>A | CA2654972832 | COL6A1 | c.1056+39C>A (n.1056+39C>A) | gnomAD v4 |
| 21 | g.45990866T>C | CA638179053 | COL6A1 | c.1056+40T>C (n.1056+40T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990866T>G | CA2654972833 | COL6A1 | c.1056+40T>G (n.1056+40T>G) | gnomAD v4 |
| 21 | g.45990866T= | CA2392434490 | COL6A1 | c.1056+40T= (n.1056+40T=) | |
| 21 | g.45990867G>A | CA2654972834 | COL6A1 | c.1056+41G>A (n.1056+41G>A) | gnomAD v4 |
| 21 | g.45990869C= | CA2392434491 | COL6A1 | c.1056+43C= (n.1056+43C=) | |
| 21 | g.45990869C>G | CA2392434492 | COL6A1 | c.1056+43C>G (n.1056+43C>G) | dbSNP gnomAD v4 |
| 21 | g.45990869C>T | CA2654972835 | COL6A1 | c.1056+43C>T (n.1056+43C>T) | gnomAD v4 |
| 21 | g.45990871G>A | CA2654972836 | COL6A1 | c.1056+45G>A (n.1056+45G>A) | gnomAD v4 |
| 21 | g.45990871G>C | CA2654972837 | COL6A1 | c.1056+45G>C (n.1056+45G>C) | gnomAD v4 |
| 21 | g.45990872C>A | CA2577628543 | COL6A1 | c.1056+46C>A (n.1056+46C>A) | |
| 21 | g.45990872C= | CA2392434493 | COL6A1 | c.1056+46C= (n.1056+46C=) | |
| 21 | g.45990872C>G | CA2392434494 | COL6A1 | c.1056+46C>G (n.1056+46C>G) | dbSNP |
| 21 | g.45990873A= | CA2392434495 | COL6A1 | c.1056+47A= (n.1056+47A=) | |
| 21 | g.45990873A>G | CA10070056 | COL6A1 | c.1056+47A>G (n.1056+47A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990873A>T | CA638179054 | COL6A1 | c.1056+47A>T (n.1056+47A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45990874G>A | CA2577628544 | COL6A1 | c.1056+48G>A (n.1056+48G>A) |