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.45990726T>C | CA10070022 | COL6A1 | c.1003-47T>C (n.1003-47T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990726T= | CA2392434414 | COL6A1 | c.1003-47T= (n.1003-47T=) | |
| 21 | g.45990728T>C | CA2654972802 | COL6A1 | c.1003-45T>C (n.1003-45T>C) | gnomAD v4 |
| 21 | g.45990729A= | CA2392434415 | COL6A1 | c.1003-44A= (n.1003-44A=) | |
| 21 | g.45990729A>G | CA321964869 | COL6A1 | c.1003-44A>G (n.1003-44A>G) | dbSNP |
| 21 | g.45990729A>T | CA2577628536 | COL6A1 | c.1003-44A>T (n.1003-44A>T) | gnomAD v4 |
| 21 | g.45990730C>A | CA2654972803 | COL6A1 | c.1003-43C>A (n.1003-43C>A) | gnomAD v4 |
| 21 | g.45990730C>T | CA2654972804 | COL6A1 | c.1003-43C>T (n.1003-43C>T) | gnomAD v4 |
| 21 | g.45990731C>A | CA2577628537 | COL6A1 | c.1003-42C>A (n.1003-42C>A) | gnomAD v4 |
| 21 | g.45990732C>A | CA2654972805 | COL6A1 | c.1003-41C>A (n.1003-41C>A) | gnomAD v4 |
| 21 | g.45990733A= | CA2392434416 | COL6A1 | c.1003-40A= (n.1003-40A=) | |
| 21 | g.45990733A>C | CA10070024 | COL6A1 | c.1003-40A>C (n.1003-40A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990733A>G | CA10070023 | COL6A1 | c.1003-40A>G (n.1003-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990733A>T | CA2654972806 | COL6A1 | c.1003-40A>T (n.1003-40A>T) | gnomAD v4 |
| 21 | g.45990734C>A | CA2654972807 | COL6A1 | c.1003-39C>A (n.1003-39C>A) | gnomAD v4 |
| 21 | g.45990734C>T | CA2654972808 | COL6A1 | c.1003-39C>T (n.1003-39C>T) | gnomAD v4 |
| 21 | g.45990735T>C | CA321964874 | COL6A1 | c.1003-38T>C (n.1003-38T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990735T= | CA2392434417 | COL6A1 | c.1003-38T= (n.1003-38T=) | |
| 21 | g.45990735_45990736insCCTCCC | CA2524675275 | COL6A1 | c.1003-38_1003-37insCCTCCC (n.1003-38_1003-37insCCTCCC) | |
| 21 | g.45990737G>A | CA2654972809 | COL6A1 | c.1003-36G>A (n.1003-36G>A) | gnomAD v4 |
| 21 | g.45990737G>C | CA2737649981 | COL6A1 | c.1003-36G>C (n.1003-36G>C) | dbSNP |
| 21 | g.45990737G>T | CA2654972810 | COL6A1 | c.1003-36G>T (n.1003-36G>T) | gnomAD v4 |
| 21 | g.45990739C>A | CA2654972812 | COL6A1 | c.1003-34C>A (n.1003-34C>A) | gnomAD v4 |
| 21 | g.45990739C>T | CA2654972811 | COL6A1 | c.1003-34C>T (n.1003-34C>T) | gnomAD v4 |
| 21 | g.45990740del | CA2654972813 | COL6A1 | c.1003-33del (n.1003-33del) | gnomAD v4 |
| 21 | g.45990740C>A | CA2392434419 | COL6A1 | c.1003-33C>A (n.1003-33C>A) | dbSNP gnomAD v4 |
| 21 | g.45990740C= | CA2392434418 | COL6A1 | c.1003-33C= (n.1003-33C=) | |
| 21 | g.45990740C>T | CA10070025 | COL6A1 | c.1003-33C>T (n.1003-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990741G>A | CA10070026 | COL6A1 | c.1003-32G>A (n.1003-32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990741G= | CA2392434420 | COL6A1 | c.1003-32G= (n.1003-32G=) | |
| 21 | g.45990742T>C | CA2392434422 | COL6A1 | c.1003-31T>C (n.1003-31T>C) | dbSNP gnomAD v4 |
| 21 | g.45990742T= | CA2392434421 | COL6A1 | c.1003-31T= (n.1003-31T=) | |
| 21 | g.45990744A>G | CA2654972814 | COL6A1 | c.1003-29A>G (n.1003-29A>G) | gnomAD v4 |
| 21 | g.45990746A= | CA2392434423 | COL6A1 | c.1003-27A= (n.1003-27A=) | |
| 21 | g.45990746A>G | CA10070027 | COL6A1 | c.1003-27A>G (n.1003-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990747T>C | CA2577628538 | COL6A1 | c.1003-26T>C (n.1003-26T>C) | |
| 21 | g.45990750T>C | CA2654972815 | COL6A1 | c.1003-23T>C (n.1003-23T>C) | gnomAD v4 |
| 21 | g.45990753A>G | CA2654972816 | COL6A1 | c.1003-20A>G (n.1003-20A>G) | gnomAD v4 |
| 21 | g.45990754G>A | CA2818093151 | COL6A1 | c.1003-19G>A (n.1003-19G>A) | |
| 21 | g.45990754G>C | CA2654972817 | COL6A1 | c.1003-19G>C (n.1003-19G>C) | gnomAD v4 |
| 21 | g.45990754_45990755delinsGT | CA2392434424 | COL6A1 | c.1003-19_1003-18delinsGT (n.1003-19_1003-18delinsGT) | |
| 21 | g.45990758del | CA10070028 | COL6A1 | c.1003-15del (n.1003-15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990756T>G | CA2654972818 | COL6A1 | c.1003-17T>G (n.1003-17T>G) | gnomAD v4 |
| 21 | g.45990759C>A | CA2654972819 | COL6A1 | c.1003-14C>A (n.1003-14C>A) | gnomAD v4 |
| 21 | g.45990760_45990776delinsTTCCTCTTTCCAGGGGG | CA2392434425 | COL6A1 | c.1003-13_1006delinsTTCCTCTTTCCAGGGGG | |
| 21 | g.45990761_45990776delinsGGA | CA658799469 | COL6A1 | c.1003-12_1006delinsGGA | ClinVar dbSNP |
| 21 | g.45990762C= | CA2392434426 | COL6A1 | c.1003-11C= (n.1003-11C=) | |
| 21 | g.45990762C>T | CA10070029 | COL6A1 | c.1003-11C>T (n.1003-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990763C= | CA2392434427 | COL6A1 | c.1003-10C= (n.1003-10C=) | |
| 21 | g.45990763C>G | CA10070030 | COL6A1 | c.1003-10C>G (n.1003-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990763C>T | CA10070031 | COL6A1 | c.1003-10C>T (n.1003-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45990765_45990766del | CA2654972820 | COL6A1 | c.1003-8_1003-7del (n.1003-8_1003-7del) | gnomAD v4 |
| 21 | g.45990764del | CA2737649985 | COL6A1 | c.1003-9del (n.1003-9del) | dbSNP |
| 21 | g.45990765C>G | CA2697547588 | COL6A1 | c.1003-8C>G (n.1003-8C>G) | ClinVar |
| 21 | g.45990765C>T | CA2577628539 | COL6A1 | c.1003-8C>T (n.1003-8C>T) | |
| 21 | g.45990769C>A | CA2739265638 | COL6A1 | c.1003-4C>A (n.1003-4C>A) | ClinVar |
| 21 | g.45990769C= | CA2392434428 | COL6A1 | c.1003-4C= (n.1003-4C=) | |
| 21 | g.45990769C>G | CA321964919 | COL6A1 | c.1003-4C>G (n.1003-4C>G) | dbSNP gnomAD v4 |
| 21 | g.45990769C>T | CA10070032 | COL6A1 | c.1003-4C>T (n.1003-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45990770C>A | CA2573320382 | COL6A1 | c.1003-3C>A (n.1003-3C>A) | |
| 21 | g.45990770C= | CA2392434429 | COL6A1 | c.1003-3C= (n.1003-3C=) | |
| 21 | g.45990770C>G | CA2573157630 | COL6A1 | c.1003-3C>G (n.1003-3C>G) | ClinVar dbSNP |
| 21 | g.45990770C>T | CA749831911 | COL6A1 | c.1003-3C>T (n.1003-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45990770_45990771delinsCA | CA2392434430 | COL6A1 | c.1003-3_1003-2delinsCA (n.1003-3_1003-2delinsCA) | |
| 21 | g.45990771del | CA658656799 | COL6A1 | c.1003-2del (n.1003-2del) | ClinVar dbSNP |
| 21 | g.45990771A= | CA2392434431 | COL6A1 | c.1003-2A= (n.1003-2A=) | |
| 21 | g.45990771A>C | CA410523311 | COL6A1 | c.1003-2A>C (n.1003-2A>C) | ClinVar dbSNP |
| 21 | g.45990771A>G | CA208649 | COL6A1 | c.1003-2A>G (n.1003-2A>G) | ClinVar dbSNP |
| 21 | g.45990771A>T | CA410523312 | COL6A1 | c.1003-2A>T (n.1003-2A>T) | COSMIC |
| 21 | g.45990772G>A | CA10605388 | COL6A1 | c.1003-1G>A (n.1003-1G>A) | ClinVar dbSNP |
| 21 | g.45990772G>C | CA410523313 | COL6A1 | c.1003-1G>C (n.1003-1G>C) | ClinVar dbSNP |
| 21 | g.45990772G= | CA2392434432 | COL6A1 | c.1003-1G= (n.1003-1G=) | |
| 21 | g.45990772G>T | CA410523314 | COL6A1 | c.1003-1G>T (n.1003-1G>T) | ClinVar dbSNP |
| 21 | g.45990773G>A | CA410523315 | COL6A1 | c.1003G>A (p.Gly335Arg) | |
| 21 | g.45990773G>C | CA410523316 | COL6A1 | c.1003G>C (p.Gly335Arg) | |
| 21 | g.45990773G>T | CA410523317 | COL6A1 | c.1003G>T (p.Gly335Trp) | |
| 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 |