Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94401527T>CCA2683766776COL1A2c.226-40T>C (n.226-40T>C)
c.220-40T>C (n.220-40T>C)
 gnomAD v4
7g.94401530dupCA2683766775COL1A2c.226-37dup (n.226-37dup)
c.220-37dup (n.220-37dup)
 gnomAD v4
7g.94401530delCA2683766777COL1A2c.226-37del (n.226-37del)
c.220-37del (n.220-37del)
 gnomAD v4
7g.94401528T>ACA2683766778COL1A2c.226-39T>A (n.226-39T>A)
c.220-39T>A (n.220-39T>A)
 gnomAD v4
7g.94401528T>CCA2683766779COL1A2c.226-39T>C (n.226-39T>C)
c.220-39T>C (n.220-39T>C)
 gnomAD v4
7g.94401528_94401529insACA2683766780COL1A2c.226-39_226-38insA (n.226-39_226-38insA)
c.220-39_220-38insA (n.220-39_220-38insA)
 gnomAD v4
7g.94401529T>ACA576321446COL1A2c.226-38T>A (n.226-38T>A)
c.220-38T>A (n.220-38T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401529T>CCA2683766781COL1A2c.226-38T>C (n.226-38T>C)
c.220-38T>C (n.220-38T>C)
 gnomAD v4
7g.94401529T=CA1726790865COL1A2c.226-38T= (n.226-38T=)
c.220-38T= (n.220-38T=)
7g.94401529_94401531delinsTTACA1726790864COL1A2c.226-38_226-36delinsTTA (n.226-38_226-36delinsTTA)
c.220-38_220-36delinsTTA (n.220-38_220-36delinsTTA)
7g.94401529_94401530insACA2683766782COL1A2c.226-38_226-37insA (n.226-38_226-37insA)
c.220-38_220-37insA (n.220-38_220-37insA)
 gnomAD v4
7g.94401530T>CCA2683766784COL1A2c.226-37T>C (n.226-37T>C)
c.220-37T>C (n.220-37T>C)
 gnomAD v4
7g.94401542_94401543dupCA4346566COL1A2c.226-25_226-24dup (n.226-25_226-24dup)
c.220-25_220-24dup (n.220-25_220-24dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401540_94401543dupCA2683766783COL1A2c.226-27_226-24dup (n.226-27_226-24dup)
c.220-27_220-24dup (n.220-27_220-24dup)
 gnomAD v4
7g.94401542_94401543delCA4346567COL1A2c.226-25_226-24del (n.226-25_226-24del)
c.220-25_220-24del (n.220-25_220-24del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401540_94401543delCA2578941452COL1A2c.226-27_226-24del (n.226-27_226-24del)
c.220-27_220-24del (n.220-27_220-24del)
 gnomAD v4
7g.94401531A=CA1726790867COL1A2c.226-36A= (n.226-36A=)
c.220-36A= (n.220-36A=)
7g.94401531A>CCA2683766785COL1A2c.226-36A>C (n.226-36A>C)
c.220-36A>C (n.220-36A>C)
 gnomAD v4
7g.94401531A>GCA1726790866COL1A2c.226-36A>G (n.226-36A>G)
c.220-36A>G (n.220-36A>G)
 dbSNP gnomAD v4
7g.94401531A>TCA4346568COL1A2c.226-36A>T (n.226-36A>T)
c.220-36A>T (n.220-36A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401532T>ACA2683766786COL1A2c.226-35T>A (n.226-35T>A)
c.220-35T>A (n.220-35T>A)
 gnomAD v4
7g.94401532T>CCA4346569COL1A2c.226-35T>C (n.226-35T>C)
c.220-35T>C (n.220-35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401532T=CA1726790868COL1A2c.226-35T= (n.226-35T=)
c.220-35T= (n.220-35T=)
7g.94401533A>CCA2683766787COL1A2c.226-34A>C (n.226-34A>C)
c.220-34A>C (n.220-34A>C)
 gnomAD v4
7g.94401533A>GCA2683766788COL1A2c.226-34A>G (n.226-34A>G)
c.220-34A>G (n.220-34A>G)
 dbSNP gnomAD v4
7g.94401533A>TCA2683766789COL1A2c.226-34A>T (n.226-34A>T)
c.220-34A>T (n.220-34A>T)
 gnomAD v4
7g.94401534T>CCA2683766790COL1A2c.226-33T>C (n.226-33T>C)
c.220-33T>C (n.220-33T>C)
 gnomAD v4
7g.94401534T>GCA2683766791COL1A2c.226-33T>G (n.226-33T>G)
c.220-33T>G (n.220-33T>G)
 gnomAD v4
7g.94401535A=CA1726790869COL1A2c.226-32A= (n.226-32A=)
c.220-32A= (n.220-32A=)
7g.94401535A>CCA4346571COL1A2c.226-32A>C (n.226-32A>C)
c.220-32A>C (n.220-32A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401535A>GCA4346570COL1A2c.226-32A>G (n.226-32A>G)
c.220-32A>G (n.220-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401535A>TCA2683766792COL1A2c.226-32A>T (n.226-32A>T)
c.220-32A>T (n.220-32A>T)
 gnomAD v4
7g.94401536T>ACA2683766793COL1A2c.226-31T>A (n.226-31T>A)
c.220-31T>A (n.220-31T>A)
 gnomAD v4
7g.94401536T>CCA2683766794COL1A2c.226-31T>C (n.226-31T>C)
c.220-31T>C (n.220-31T>C)
 gnomAD v4
7g.94401537A>CCA2683766795COL1A2c.226-30A>C (n.226-30A>C)
c.220-30A>C (n.220-30A>C)
 gnomAD v4
7g.94401537A>GCA2683766797COL1A2c.226-30A>G (n.226-30A>G)
c.220-30A>G (n.220-30A>G)
 gnomAD v4
7g.94401537A>TCA2683766796COL1A2c.226-30A>T (n.226-30A>T)
c.220-30A>T (n.220-30A>T)
 gnomAD v4
7g.94401538delCA2683766798COL1A2c.226-29del (n.226-29del)
c.220-29del (n.220-29del)
 gnomAD v4
7g.94401538T>ACA2683766799COL1A2c.226-29T>A (n.226-29T>A)
c.220-29T>A (n.220-29T>A)
 gnomAD v4
7g.94401538T>CCA4346572COL1A2c.226-29T>C (n.226-29T>C)
c.220-29T>C (n.220-29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401538T>GCA2683766800COL1A2c.226-29T>G (n.226-29T>G)
c.220-29T>G (n.220-29T>G)
 gnomAD v4
7g.94401538T=CA1726790870COL1A2c.226-29T= (n.226-29T=)
c.220-29T= (n.220-29T=)
7g.94401539A>CCA2683766801COL1A2c.226-28A>C (n.226-28A>C)
c.220-28A>C (n.220-28A>C)
 gnomAD v4
7g.94401539A>GCA2683766802COL1A2c.226-28A>G (n.226-28A>G)
c.220-28A>G (n.220-28A>G)
 gnomAD v4
7g.94401539A>TCA2683766803COL1A2c.226-28A>T (n.226-28A>T)
c.220-28A>T (n.220-28A>T)
 gnomAD v4
7g.94401539_94401542delinsATATCA1726790871COL1A2c.226-28_226-25delinsATAT (n.226-28_226-25delinsATAT)
c.220-28_220-25delinsATAT (n.220-28_220-25delinsATAT)
7g.94401541_94401545delCA2776991306COL1A2c.226-26_226-22del (n.226-26_226-22del)
c.220-26_220-22del (n.220-26_220-22del)
7g.94401540delCA2683766806COL1A2c.226-27del (n.226-27del)
c.220-27del (n.220-27del)
 gnomAD v4
7g.94401540T>CCA2683766805COL1A2c.226-27T>C (n.226-27T>C)
c.220-27T>C (n.220-27T>C)
 gnomAD v4
7g.94401540T>GCA2683766804COL1A2c.226-27T>G (n.226-27T>G)
c.220-27T>G (n.220-27T>G)
 gnomAD v4
7g.94401540_94401542delCA4346573COL1A2c.226-27_226-25del (n.226-27_226-25del)
c.220-27_220-25del (n.220-27_220-25del)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401541A=CA1726790872COL1A2c.226-26A= (n.226-26A=)
c.220-26A= (n.220-26A=)
7g.94401541A>CCA2683766808COL1A2c.226-26A>C (n.226-26A>C)
c.220-26A>C (n.220-26A>C)
 gnomAD v4
7g.94401541A>GCA576321447COL1A2c.226-26A>G (n.226-26A>G)
c.220-26A>G (n.220-26A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401541A>TCA2683766809COL1A2c.226-26A>T (n.226-26A>T)
c.220-26A>T (n.220-26A>T)
 gnomAD v4
7g.94401541_94401544delCA2683766807COL1A2c.226-26_226-23del (n.226-26_226-23del)
c.220-26_220-23del (n.220-26_220-23del)
 gnomAD v4
7g.94401543_94401545delCA2578941453COL1A2c.226-24_226-22del (n.226-24_226-22del)
c.220-24_220-22del (n.220-24_220-22del)
 gnomAD v4
7g.94401542delCA2683766811COL1A2c.226-25del (n.226-25del)
c.220-25del (n.220-25del)
 gnomAD v4
7g.94401542T>ACA576321448COL1A2c.226-25T>A (n.226-25T>A)
c.220-25T>A (n.220-25T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401542T>CCA2578941454COL1A2c.226-25T>C (n.226-25T>C)
c.220-25T>C (n.220-25T>C)
 gnomAD v4
7g.94401542T=CA1726790873COL1A2c.226-25T= (n.226-25T=)
c.220-25T= (n.220-25T=)
7g.94401542_94401544delinsTAACA1726790874COL1A2c.226-25_226-23delinsTAA (n.226-25_226-23delinsTAA)
c.220-25_220-23delinsTAA (n.220-25_220-23delinsTAA)
7g.94401543_94401546delCA2683766810COL1A2c.226-24_226-21del (n.226-24_226-21del)
c.220-24_220-21del (n.220-24_220-21del)
 gnomAD v4
7g.94401543A=CA1726790875COL1A2c.226-24A= (n.226-24A=)
c.220-24A= (n.220-24A=)
7g.94401543A>GCA2683766813COL1A2c.226-24A>G (n.226-24A>G)
c.220-24A>G (n.220-24A>G)
 gnomAD v4
7g.94401543A>TCA162908366COL1A2c.226-24A>T (n.226-24A>T)
c.220-24A>T (n.220-24A>T)
 dbSNP
7g.94401543_94401544insTAACA1726790876COL1A2c.226-24_226-23insTAA (n.226-24_226-23insTAA)
c.220-24_220-23insTAA (n.220-24_220-23insTAA)
 dbSNP
7g.94401543_94401544delCA456486772COL1A2c.226-24_226-23del (n.226-24_226-23del)
c.220-24_220-23del (n.220-24_220-23del)
 dbSNP gnomAD v4
7g.94401543_94401544dupCA4346574COL1A2c.226-24_226-23dup (n.226-24_226-23dup)
c.220-24_220-23dup (n.220-24_220-23dup)
 dbSNP ExAC
7g.94401544delCA2683766812COL1A2c.226-23del (n.226-23del)
c.220-23del (n.220-23del)
 gnomAD v4
7g.94401543_94401544insTCA4346575COL1A2c.226-24_226-23insT (n.226-24_226-23insT)
c.220-24_220-23insT (n.220-24_220-23insT)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401544A=CA1726790878COL1A2c.226-23A= (n.226-23A=)
c.220-23A= (n.220-23A=)
7g.94401544A>GCA2683766816COL1A2c.226-23A>G (n.226-23A>G)
c.220-23A>G (n.220-23A>G)
 gnomAD v4
7g.94401544A>TCA4346579COL1A2c.226-23A>T (n.226-23A>T)
c.220-23A>T (n.220-23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94401544_94401545delCA368219287COL1A2c.226-23_226-22del (n.226-23_226-22del)
c.220-23_220-22del (n.220-23_220-22del)
 gnomAD v4
7g.94401544_94401546delCA2683766814COL1A2c.226-23_226-21del (n.226-23_226-21del)
c.220-23_220-21del (n.220-23_220-21del)
 gnomAD v4
7g.94401544_94401546delinsATTCA1726790877COL1A2c.226-23_226-21delinsATT (n.226-23_226-21delinsATT)
c.220-23_220-21delinsATT (n.220-23_220-21delinsATT)
7g.94401544_94401547delCA2683766815COL1A2c.226-23_226-20del (n.226-23_226-20del)
c.220-23_220-20del (n.220-23_220-20del)
 gnomAD v4
7g.94401544_94401545insATCA1104604164COL1A2c.226-23_226-22insAT (n.226-23_226-22insAT)
c.220-23_220-22insAT (n.220-23_220-22insAT)
 dbSNP gnomAD v3 gnomAD v4
7g.94401544_94401545insATTCA2683766821COL1A2c.226-23_226-22insATT (n.226-23_226-22insATT)
c.220-23_220-22insATT (n.220-23_220-22insATT)
 gnomAD v4
7g.94401545T>ACA2578941455COL1A2c.226-22T>A (n.226-22T>A)
c.220-22T>A (n.220-22T>A)
 gnomAD v4
7g.94401545T>CCA2683766817COL1A2c.226-22T>C (n.226-22T>C)
c.220-22T>C (n.220-22T>C)
 gnomAD v4
7g.94401545_94401546insATTCA2776991318COL1A2c.226-22_226-21insATT (n.226-22_226-21insATT)
c.220-22_220-21insATT (n.220-22_220-21insATT)
7g.94401545_94401556delCA2695208030COL1A2c.226-22_226-11del (n.226-22_226-11del)
c.220-22_220-11del (n.220-22_220-11del)
7g.94401556dupCA203197COL1A2c.226-11dup (n.226-11dup)
c.220-11dup (n.220-11dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401555_94401556dupCA4346577COL1A2c.226-12_226-11dup (n.226-12_226-11dup)
c.220-12_220-11dup (n.220-12_220-11dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401554_94401556dupCA4346580COL1A2c.226-13_226-11dup (n.226-13_226-11dup)
c.220-13_220-11dup (n.220-13_220-11dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401553_94401556dupCA2683766820COL1A2c.226-14_226-11dup (n.226-14_226-11dup)
c.220-14_220-11dup (n.220-14_220-11dup)
 gnomAD v4
7g.94401556delCA4346576COL1A2c.226-11del (n.226-11del)
c.220-11del (n.220-11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401555_94401556delCA4346578COL1A2c.226-12_226-11del (n.226-12_226-11del)
c.220-12_220-11del (n.220-12_220-11del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401554_94401556delCA1104604173COL1A2c.226-13_226-11del (n.226-13_226-11del)
c.220-13_220-11del (n.220-13_220-11del)
 gnomAD v3 gnomAD v4
7g.94401553_94401556delCA2683766818COL1A2c.226-14_226-11del (n.226-14_226-11del)
c.220-14_220-11del (n.220-14_220-11del)
 gnomAD v4
7g.94401547_94401560delCA2683766819COL1A2c.226-20_226-7del (n.226-20_226-7del)
c.220-20_220-7del (n.220-20_220-7del)
 gnomAD v4
7g.94401546T>ACA2578941456COL1A2c.226-21T>A (n.226-21T>A)
c.220-21T>A (n.220-21T>A)
 gnomAD v4
7g.94401546T>CCA2683766823COL1A2c.226-21T>C (n.226-21T>C)
c.220-21T>C (n.220-21T>C)
 gnomAD v4
7g.94401546_94401547insGTCA2683766822COL1A2c.226-21_226-20insGT (n.226-21_226-20insGT)
c.220-21_220-20insGT (n.220-21_220-20insGT)
 gnomAD v4
7g.94401546_94401547insAACA2683766824COL1A2c.226-21_226-20insAA (n.226-21_226-20insAA)
c.220-21_220-20insAA (n.220-21_220-20insAA)
 gnomAD v4
7g.94401547T>CCA576321449COL1A2c.226-20T>C (n.226-20T>C)
c.220-20T>C (n.220-20T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.94401547T=CA1726790879COL1A2c.226-20T= (n.226-20T=)
c.220-20T= (n.220-20T=)
7g.94401548T>ACA2683766826COL1A2c.226-19T>A (n.226-19T>A)
c.220-19T>A (n.220-19T>A)
 gnomAD v4
7g.94401548T>CCA2683766825COL1A2c.226-19T>C (n.226-19T>C)
c.220-19T>C (n.220-19T>C)
 gnomAD v4
7g.94401548_94401631delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATCCA1726790880COL1A2c.226-19_279+11delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC
c.220-19_273+11delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC
7g.94401549T>CCA2683766827COL1A2c.226-18T>C (n.226-18T>C)
c.220-18T>C (n.220-18T>C)
 gnomAD v4
7g.94401549T>GCA2578941457COL1A2c.226-18T>G (n.226-18T>G)
c.220-18T>G (n.220-18T>G)
 gnomAD v4
7g.94401550_94401632delCA162908466COL1A2c.226-17_279+12del
c.220-17_273+12del
 dbSNP
7g.94401549_94401550insCCA2683766828COL1A2c.226-18_226-17insC (n.226-18_226-17insC)
c.220-18_220-17insC (n.220-18_220-17insC)
 gnomAD v4
7g.94401550T>CCA4346581COL1A2c.226-17T>C (n.226-17T>C)
c.220-17T>C (n.220-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401550T=CA1726790881COL1A2c.226-17T= (n.226-17T=)
c.220-17T= (n.220-17T=)
7g.94401551T>CCA4346583COL1A2c.226-16T>C (n.226-16T>C)
c.220-16T>C (n.220-16T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401551T>GCA4346582COL1A2c.226-16T>G (n.226-16T>G)
c.220-16T>G (n.220-16T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401551T=CA1726790882COL1A2c.226-16T= (n.226-16T=)
c.220-16T= (n.220-16T=)
7g.94401552T>CCA2683766829COL1A2c.226-15T>C (n.226-15T>C)
c.220-15T>C (n.220-15T>C)
 gnomAD v4
7g.94401553T>CCA2683766830COL1A2c.226-14T>C (n.226-14T>C)
c.220-14T>C (n.220-14T>C)
 gnomAD v4
7g.94401553T>GCA4346584COL1A2c.226-14T>G (n.226-14T>G)
c.220-14T>G (n.220-14T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401553T=CA1726790883COL1A2c.226-14T= (n.226-14T=)
c.220-14T= (n.220-14T=)
7g.94401554T>CCA2683766831COL1A2c.226-13T>C (n.226-13T>C)
c.220-13T>C (n.220-13T>C)
 gnomAD v4
7g.94401554_94401555insCCA2683766833COL1A2c.226-13_226-12insC (n.226-13_226-12insC)
c.220-13_220-12insC (n.220-13_220-12insC)
 gnomAD v4
7g.94401555T>CCA2683766832COL1A2c.226-12T>C (n.226-12T>C)
c.220-12T>C (n.220-12T>C)
 gnomAD v4
7g.94401556T>ACA2499219066COL1A2c.226-11T>A (n.226-11T>A)
c.220-11T>A (n.220-11T>A)
 ClinVar dbSNP
7g.94401556T>CCA2683766834COL1A2c.226-11T>C (n.226-11T>C)
c.220-11T>C (n.220-11T>C)
 gnomAD v4
7g.94401556_94401558delinsTACCA1726790884COL1A2c.226-11_226-9delinsTAC (n.226-11_226-9delinsTAC)
c.220-11_220-9delinsTAC (n.220-11_220-9delinsTAC)
7g.94401556_94401557insTTTTTTTTTTACA1104604186COL1A2c.226-11_226-10insTTTTTTTTTTA (n.226-11_226-10insTTTTTTTTTTA)
c.220-11_220-10insTTTTTTTTTTA (n.220-11_220-10insTTTTTTTTTTA)
 gnomAD v3 gnomAD v4
7g.94401557delCA2683766835COL1A2c.226-10del (n.226-10del)
c.220-10del (n.220-10del)
 gnomAD v4
7g.94401557A=CA1726790885COL1A2c.226-10A= (n.226-10A=)
c.220-10A= (n.220-10A=)
7g.94401557A>GCA2683766836COL1A2c.226-10A>G (n.226-10A>G)
c.220-10A>G (n.220-10A>G)
 gnomAD v4
7g.94401557A>TCA576321451COL1A2c.226-10A>T (n.226-10A>T)
c.220-10A>T (n.220-10A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401557_94401558delCA576321450COL1A2c.226-10_226-9del (n.226-10_226-9del)
c.220-10_220-9del (n.220-10_220-9del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401558C>ACA2683766837COL1A2c.226-9C>A (n.226-9C>A)
c.220-9C>A (n.220-9C>A)
 gnomAD v4
7g.94401558C=CA1726790886COL1A2c.226-9C= (n.226-9C=)
c.220-9C= (n.220-9C=)
7g.94401558C>GCA2683766838COL1A2c.226-9C>G (n.226-9C>G)
c.220-9C>G (n.220-9C>G)
 gnomAD v4
7g.94401558C>TCA576321452COL1A2c.226-9C>T (n.226-9C>T)
c.220-9C>T (n.220-9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401559T>CCA2683766839COL1A2c.226-8T>C (n.226-8T>C)
c.220-8T>C (n.220-8T>C)
 gnomAD v4
7g.94401559T>GCA2683766840COL1A2c.226-8T>G (n.226-8T>G)
c.220-8T>G (n.220-8T>G)
 gnomAD v4
7g.94401560_94401561insTTTCA576321453COL1A2c.226-7_226-6insTTT (n.226-7_226-6insTTT)
c.220-7_220-6insTTT (n.220-7_220-6insTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
7g.94401560_94401561insTTTTCA1104604189COL1A2c.226-7_226-6insTTTT (n.226-7_226-6insTTTT)
c.220-7_220-6insTTTT (n.220-7_220-6insTTTT)
 gnomAD v3 gnomAD v4
7g.94401560T>ACA2683766842COL1A2c.226-7T>A (n.226-7T>A)
c.220-7T>A (n.220-7T>A)
 gnomAD v4
7g.94401560T>CCA2573142429COL1A2c.226-7T>C (n.226-7T>C)
c.220-7T>C (n.220-7T>C)
 ClinVar dbSNP gnomAD v4
7g.94401563_94401564delCA2683766841COL1A2c.226-4_226-3del (n.226-4_226-3del)
c.220-4_220-3del (n.220-4_220-3del)
 gnomAD v4
7g.94401561C>ACA4346585COL1A2c.226-6C>A (n.226-6C>A)
c.220-6C>A (n.220-6C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401561C=CA1726790887COL1A2c.226-6C= (n.226-6C=)
c.220-6C= (n.220-6C=)
7g.94401561C>GCA1104604194COL1A2c.226-6C>G (n.226-6C>G)
c.220-6C>G (n.220-6C>G)
 dbSNP gnomAD v3 gnomAD v4
7g.94401561C>TCA4346586COL1A2c.226-6C>T (n.226-6C>T)
c.220-6C>T (n.220-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94401562T>ACA2683766845COL1A2c.226-5T>A (n.226-5T>A)
c.220-5T>A (n.220-5T>A)
 gnomAD v4
7g.94401562T>CCA2683766844COL1A2c.226-5T>C (n.226-5T>C)
c.220-5T>C (n.220-5T>C)
 gnomAD v4
7g.94401562T>GCA2683766843COL1A2c.226-5T>G (n.226-5T>G)
c.220-5T>G (n.220-5T>G)
 gnomAD v4
7g.94401563C>ACA2683766846COL1A2c.226-4C>A (n.226-4C>A)
c.220-4C>A (n.220-4C>A)
 dbSNP gnomAD v4
7g.94401563C=CA1726790888COL1A2c.226-4C= (n.226-4C=)
c.220-4C= (n.220-4C=)
7g.94401563C>GCA2578941458COL1A2c.226-4C>G (n.226-4C>G)
c.220-4C>G (n.220-4C>G)
 dbSNP gnomAD v4
7g.94401563C>TCA576321454COL1A2c.226-4C>T (n.226-4C>T)
c.220-4C>T (n.220-4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401564T>ACA2683766847COL1A2c.226-3T>A (n.226-3T>A)
c.220-3T>A (n.220-3T>A)
 gnomAD v4
7g.94401564T>CCA2683766848COL1A2c.226-3T>C (n.226-3T>C)
c.220-3T>C (n.220-3T>C)
 gnomAD v4
7g.94401565A=CA1726790889COL1A2c.226-2A= (n.226-2A=)
c.220-2A= (n.220-2A=)
7g.94401565A>CCA368219288COL1A2c.226-2A>C (n.226-2A>C)
c.220-2A>C (n.220-2A>C)
 gnomAD v4
7g.94401565A>GCA212997COL1A2c.226-2A>G (n.226-2A>G)
c.220-2A>G (n.220-2A>G)
 ClinVar dbSNP gnomAD v4
7g.94401565A>TCA368219289COL1A2c.226-2A>T (n.226-2A>T)
c.220-2A>T (n.220-2A>T)
 gnomAD v4
7g.94401565_94401569delCA2776991332COL1A2c.226-2_228del
c.220-2_222del
7g.94401566G>ACA162908508COL1A2c.226-1G>A (n.226-1G>A)
c.220-1G>A (n.220-1G>A)
 dbSNP gnomAD v4
7g.94401566G>CCA127126COL1A2c.226-1G>C (n.226-1G>C)
c.220-1G>C (n.220-1G>C)
 ClinVar dbSNP
7g.94401566G=CA1726790890COL1A2c.226-1G= (n.226-1G=)
c.220-1G= (n.220-1G=)
7g.94401566G>TCA368219290COL1A2c.226-1G>T (n.226-1G>T)
c.220-1G>T (n.220-1G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94401567A>CCA368219291COL1A2c.226A>C (p.Asn76His)
c.220A>C (p.Asn74His)
 gnomAD v4
7g.94401567A>GCA368219292COL1A2c.226A>G (p.Asn76Asp)
c.220A>G (p.Asn74Asp)
 gnomAD v4
7g.94401567A>TCA368219293COL1A2c.226A>T (p.Asn76Tyr)
c.220A>T (p.Asn74Tyr)
7g.94401568A>CCA368219294COL1A2c.227A>C (p.Asn76Thr)
c.221A>C (p.Asn74Thr)
 gnomAD v4
7g.94401568A>GCA368219296COL1A2c.227A>G (p.Asn76Ser)
c.221A>G (p.Asn74Ser)
 gnomAD v4 COSMIC
7g.94401568A>TCA368219295COL1A2c.227A>T (p.Asn76Ile)
c.221A>T (p.Asn74Ile)
 gnomAD v4
7g.94401569C>ACA368219297COL1A2c.228C>A (p.Asn76Lys)
c.222C>A (p.Asn74Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.94401569C=CA1726790891COL1A2c.228C= (p.Asn76=)
c.222C= (p.Asn74=)
7g.94401569C>GCA368219298COL1A2c.228C>G (p.Asn76Lys)
c.222C>G (p.Asn74Lys)
 gnomAD v4
7g.94401569C>TCA456486784COL1A2c.228C>T (p.Asn76=)
c.222C>T (p.Asn74=)
 dbSNP gnomAD v2 gnomAD v4
7g.94401570T>ACA368219299COL1A2c.229T>A (p.Phe77Ile)
c.223T>A (p.Phe75Ile)
7g.94401570T>CCA368219300COL1A2c.229T>C (p.Phe77Leu)
c.223T>C (p.Phe75Leu)
 gnomAD v4
7g.94401570T>GCA368219301COL1A2c.229T>G (p.Phe77Val)
c.223T>G (p.Phe75Val)
7g.94401572delCA2573052939COL1A2c.231del (p.Phe77LeufsTer19)
c.225del (p.Phe75LeufsTer19)
 ClinVar dbSNP
7g.94401571T>ACA368219302COL1A2c.230T>A (p.Phe77Tyr)
c.224T>A (p.Phe75Tyr)
7g.94401571T>CCA368219303COL1A2c.230T>C (p.Phe77Ser)
c.224T>C (p.Phe75Ser)
 gnomAD v4
7g.94401571T>GCA368219304COL1A2c.230T>G (p.Phe77Cys)
c.224T>G (p.Phe75Cys)
7g.94401572T>ACA368219305COL1A2c.231T>A (p.Phe77Leu)
c.225T>A (p.Phe75Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.94401572T>CCA456486788COL1A2c.231T>C (p.Phe77=)
c.225T>C (p.Phe75=)
 gnomAD v4
7g.94401572T>GCA368219306COL1A2c.231T>G (p.Phe77Leu)
c.225T>G (p.Phe75Leu)
7g.94401572T=CA1726790892COL1A2c.231T= (p.Phe77=)
c.225T= (p.Phe75=)
7g.94401573G>ACA368219309COL1A2c.232G>A (p.Ala78Thr)
c.226G>A (p.Ala76Thr)
 gnomAD v4
7g.94401573G>CCA368219308COL1A2c.232G>C (p.Ala78Pro)
c.226G>C (p.Ala76Pro)
7g.94401573G>TCA368219307COL1A2c.232G>T (p.Ala78Ser)
c.226G>T (p.Ala76Ser)
 gnomAD v3 gnomAD v4 COSMIC
7g.94401574C>ACA368219310COL1A2c.233C>A (p.Ala78Asp)
c.227C>A (p.Ala76Asp)
 gnomAD v4
7g.94401574C>GCA368219312COL1A2c.233C>G (p.Ala78Gly)
c.227C>G (p.Ala76Gly)
7g.94401574C>TCA368219311COL1A2c.233C>T (p.Ala78Val)
c.227C>T (p.Ala76Val)
 gnomAD v4
7g.94401575T>ACA456486791COL1A2c.234T>A (p.Ala78=)
c.228T>A (p.Ala76=)
7g.94401575T>CCA456486792COL1A2c.234T>C (p.Ala78=)
c.228T>C (p.Ala76=)
 gnomAD v4
7g.94401575T>GCA456486793COL1A2c.234T>G (p.Ala78=)
c.228T>G (p.Ala76=)
 gnomAD v4
7g.94401576G>ACA368219313COL1A2c.235G>A (p.Ala79Thr)
c.229G>A (p.Ala77Thr)
 gnomAD v4
7g.94401576G>CCA368219314COL1A2c.235G>C (p.Ala79Pro)
c.229G>C (p.Ala77Pro)
7g.94401576G>TCA368219315COL1A2c.235G>T (p.Ala79Ser)
c.229G>T (p.Ala77Ser)
 gnomAD v4
7g.94401577C>ACA368219316COL1A2c.236C>A (p.Ala79Asp)
c.230C>A (p.Ala77Asp)
 gnomAD v4
7g.94401577C>GCA368219317COL1A2c.236C>G (p.Ala79Gly)
c.230C>G (p.Ala77Gly)
7g.94401577C>TCA368219318COL1A2c.236C>T (p.Ala79Val)
c.230C>T (p.Ala77Val)
 gnomAD v4
7g.94401578T>ACA456486794COL1A2c.237T>A (p.Ala79=)
c.231T>A (p.Ala77=)
 gnomAD v4
7g.94401578T>CCA456486795COL1A2c.237T>C (p.Ala79=)
c.231T>C (p.Ala77=)
 gnomAD v4
7g.94401578T>GCA456486796COL1A2c.237T>G (p.Ala79=)
c.231T>G (p.Ala77=)
7g.94401579C>ACA368219319COL1A2c.238C>A (p.Gln80Lys)
c.232C>A (p.Gln78Lys)
 gnomAD v4
7g.94401579C>GCA368219320COL1A2c.238C>G (p.Gln80Glu)
c.232C>G (p.Gln78Glu)
7g.94401579C>TCA368219321COL1A2c.238C>T (p.Gln80Ter)
c.232C>T (p.Gln78Ter)
 gnomAD v4
7g.94401580A>CCA368219322COL1A2c.239A>C (p.Gln80Pro)
c.233A>C (p.Gln78Pro)
7g.94401580A>GCA368219323COL1A2c.239A>G (p.Gln80Arg)
c.233A>G (p.Gln78Arg)
 gnomAD v4
7g.94401580A>TCA368219324COL1A2c.239A>T (p.Gln80Leu)
c.233A>T (p.Gln78Leu)
7g.94401581G>ACA456486798COL1A2c.240G>A (p.Gln80=)
c.234G>A (p.Gln78=)
 gnomAD v4 COSMIC
7g.94401581G>CCA368219326COL1A2c.240G>C (p.Gln80His)
c.234G>C (p.Gln78His)
7g.94401581G>TCA368219325COL1A2c.240G>T (p.Gln80His)
c.234G>T (p.Gln78His)
7g.94401582T>ACA368219327COL1A2c.241T>A (p.Tyr81Asn)
c.235T>A (p.Tyr79Asn)
7g.94401582T>CCA368219328COL1A2c.241T>C (p.Tyr81His)
c.235T>C (p.Tyr79His)
 gnomAD v4
7g.94401582T>GCA368219329COL1A2c.241T>G (p.Tyr81Asp)
c.235T>G (p.Tyr79Asp)
7g.94401583A>CCA368219330COL1A2c.242A>C (p.Tyr81Ser)
c.236A>C (p.Tyr79Ser)
7g.94401583A>GCA368219331COL1A2c.242A>G (p.Tyr81Cys)
c.236A>G (p.Tyr79Cys)
 gnomAD v4
7g.94401583A>TCA368219332COL1A2c.242A>T (p.Tyr81Phe)
c.236A>T (p.Tyr79Phe)
7g.94401584T>ACA368219333COL1A2c.243T>A (p.Tyr81Ter)
c.237T>A (p.Tyr79Ter)
7g.94401584T>CCA456486800COL1A2c.243T>C (p.Tyr81=)
c.237T>C (p.Tyr79=)
 gnomAD v4
7g.94401584T>GCA368219334COL1A2c.243T>G (p.Tyr81Ter)
c.237T>G (p.Tyr79Ter)
7g.94401585G>ACA368219335COL1A2c.244G>A (p.Asp82Asn)
c.238G>A (p.Asp80Asn)
 gnomAD v4
7g.94401585G>CCA368219336COL1A2c.244G>C (p.Asp82His)
c.238G>C (p.Asp80His)
7g.94401585G>TCA368219337COL1A2c.244G>T (p.Asp82Tyr)
c.238G>T (p.Asp80Tyr)
 gnomAD v4
7g.94401586A=CA1726790893COL1A2c.245A= (p.Asp82=)
c.239A= (p.Asp80=)
7g.94401586A>CCA368219340COL1A2c.245A>C (p.Asp82Ala)
c.239A>C (p.Asp80Ala)
7g.94401586A>GCA368219339COL1A2c.245A>G (p.Asp82Gly)
c.239A>G (p.Asp80Gly)
 ClinVar dbSNP gnomAD v4
7g.94401586A>TCA368219338COL1A2c.245A>T (p.Asp82Val)
c.239A>T (p.Asp80Val)
 dbSNP gnomAD v4
7g.94401587T>ACA368219341COL1A2c.246T>A (p.Asp82Glu)
c.240T>A (p.Asp80Glu)
 gnomAD v4
7g.94401587T>CCA4346587COL1A2c.246T>C (p.Asp82=)
c.240T>C (p.Asp80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401587T>GCA368219342COL1A2c.246T>G (p.Asp82Glu)
c.240T>G (p.Asp80Glu)
 dbSNP
7g.94401587T=CA1726790894COL1A2c.246T= (p.Asp82=)
c.240T= (p.Asp80=)
7g.94401588G>ACA368219343COL1A2c.247G>A (p.Gly83Arg)
c.241G>A (p.Gly81Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.94401588G>CCA368219344COL1A2c.247G>C (p.Gly83Arg)
c.241G>C (p.Gly81Arg)
7g.94401588G=CA1726790895COL1A2c.247G= (p.Gly83=)
c.241G= (p.Gly81=)
7g.94401588G>TCA368219345COL1A2c.247G>T (p.Gly83Ter)
c.241G>T (p.Gly81Ter)
 gnomAD v4
7g.94401588_94401590delCA2683766849COL1A2c.247_249del (p.Gly83del)
c.241_243del (p.Gly81del)
 gnomAD v4
7g.94401589G>ACA368219346COL1A2c.248G>A (p.Gly83Glu)
c.242G>A (p.Gly81Glu)
 gnomAD v4 COSMIC
7g.94401589G>CCA368219347COL1A2c.248G>C (p.Gly83Ala)
c.242G>C (p.Gly81Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.94401589G=CA1726790896COL1A2c.248G= (p.Gly83=)
c.242G= (p.Gly81=)
7g.94401589G>TCA368219348COL1A2c.248G>T (p.Gly83Val)
c.242G>T (p.Gly81Val)
7g.94401590A>CCA456486803COL1A2c.249A>C (p.Gly83=)
c.243A>C (p.Gly81=)
7g.94401590A>GCA456486802COL1A2c.249A>G (p.Gly83=)
c.243A>G (p.Gly81=)
 gnomAD v4
7g.94401590A>TCA456486801COL1A2c.249A>T (p.Gly83=)
c.243A>T (p.Gly81=)
7g.94401593delCA2578941459COL1A2c.252del (p.Gly85GlufsTer11)
c.246del (p.Gly83GlufsTer11)
 gnomAD v4
7g.94401591A>CCA368219349COL1A2c.250A>C (p.Lys84Gln)
c.244A>C (p.Lys82Gln)
7g.94401591A>GCA368219350COL1A2c.250A>G (p.Lys84Glu)
c.244A>G (p.Lys82Glu)
 gnomAD v4
7g.94401591A>TCA368219351COL1A2c.250A>T (p.Lys84Ter)
c.244A>T (p.Lys82Ter)
7g.94401592A>CCA368219354COL1A2c.251A>C (p.Lys84Thr)
c.245A>C (p.Lys82Thr)
7g.94401592A>GCA368219353COL1A2c.251A>G (p.Lys84Arg)
c.245A>G (p.Lys82Arg)
 gnomAD v4
7g.94401592A>TCA368219352COL1A2c.251A>T (p.Lys84Ile)
c.245A>T (p.Lys82Ile)
7g.94401593A>CCA368219355COL1A2c.252A>C (p.Lys84Asn)
c.246A>C (p.Lys82Asn)
7g.94401593A>GCA456486804COL1A2c.252A>G (p.Lys84=)
c.246A>G (p.Lys82=)
 gnomAD v4
7g.94401593A>TCA368219356COL1A2c.252A>T (p.Lys84Asn)
c.246A>T (p.Lys82Asn)
7g.94401594G>ACA368219357COL1A2c.253G>A (p.Gly85Arg)
c.247G>A (p.Gly83Arg)
 gnomAD v4
7g.94401594G>CCA368219358COL1A2c.253G>C (p.Gly85Arg)
c.247G>C (p.Gly83Arg)
7g.94401594G>TCA368219359COL1A2c.253G>T (p.Gly85Ter)
c.247G>T (p.Gly83Ter)
 gnomAD v4
7g.94401594_94401595delinsAACA645565819COL1A2c.253_254delinsAA (p.Gly85Lys)
c.247_248delinsAA (p.Gly83Lys)
 COSMIC
7g.94401595G>ACA368219360COL1A2c.254G>A (p.Gly85Glu)
c.248G>A (p.Gly83Glu)
 gnomAD v4
7g.94401595G>CCA368219361COL1A2c.254G>C (p.Gly85Ala)
c.248G>C (p.Gly83Ala)
7g.94401595G=CA1726790897COL1A2c.254G= (p.Gly85=)
c.248G= (p.Gly83=)
7g.94401595G>TCA368219362COL1A2c.254G>T (p.Gly85Val)
c.248G>T (p.Gly83Val)
 ClinVar dbSNP gnomAD v4
7g.94401596A=CA1726790898COL1A2c.255A= (p.Gly85=)
c.249A= (p.Gly83=)
7g.94401596A>CCA4346588COL1A2c.255A>C (p.Gly85=)
c.249A>C (p.Gly83=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401596A>GCA4346589COL1A2c.255A>G (p.Gly85=)
c.249A>G (p.Gly83=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401596A>TCA456486805COL1A2c.255A>T (p.Gly85=)
c.249A>T (p.Gly83=)
 dbSNP gnomAD v2 gnomAD v4
7g.94401597G>ACA368219363COL1A2c.256G>A (p.Val86Ile)
c.250G>A (p.Val84Ile)
 gnomAD v4
7g.94401597G>CCA4346590COL1A2c.256G>C (p.Val86Leu)
c.250G>C (p.Val84Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401597G=CA1726790899COL1A2c.256G= (p.Val86=)
c.250G= (p.Val84=)
7g.94401597G>TCA368219364COL1A2c.256G>T (p.Val86Phe)
c.250G>T (p.Val84Phe)
7g.94401598T>ACA368219366COL1A2c.257T>A (p.Val86Asp)
c.251T>A (p.Val84Asp)
7g.94401598T>CCA368219367COL1A2c.257T>C (p.Val86Ala)
c.251T>C (p.Val84Ala)
 dbSNP gnomAD v4
7g.94401598T>GCA368219365COL1A2c.257T>G (p.Val86Gly)
c.251T>G (p.Val84Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.94401598T=CA1726790900COL1A2c.257T= (p.Val86=)
c.251T= (p.Val84=)
7g.94401599T>ACA456486806COL1A2c.258T>A (p.Val86=)
c.252T>A (p.Val84=)
7g.94401599T>CCA456486808COL1A2c.258T>C (p.Val86=)
c.252T>C (p.Val84=)
 gnomAD v4
7g.94401599T>GCA456486807COL1A2c.258T>G (p.Val86=)
c.252T>G (p.Val84=)
7g.94401604_94401615delCA2683766850COL1A2c.263_274del (p.Leu88_Gly91del)
c.257_268del (p.Leu86_Gly89del)
 gnomAD v4
7g.94401600G>ACA368219370COL1A2c.259G>A (p.Gly87Arg)
c.253G>A (p.Gly85Arg)
 gnomAD v4 COSMIC
7g.94401600G>CCA368219368COL1A2c.259G>C (p.Gly87Arg)
c.253G>C (p.Gly85Arg)
7g.94401600G>TCA368219369COL1A2c.259G>T (p.Gly87Ter)
c.253G>T (p.Gly85Ter)
 COSMIC
7g.94401601G>ACA368219371COL1A2c.260G>A (p.Gly87Glu)
c.254G>A (p.Gly85Glu)
 dbSNP
7g.94401601G>CCA368219372COL1A2c.260G>C (p.Gly87Ala)
c.254G>C (p.Gly85Ala)
 dbSNP
7g.94401601G=CA1726790901COL1A2c.260G= (p.Gly87=)
c.254G= (p.Gly85=)
7g.94401601G>TCA368219373COL1A2c.260G>T (p.Gly87Val)
c.254G>T (p.Gly85Val)
 gnomAD v4
7g.94401602A>CCA456486809COL1A2c.261A>C (p.Gly87=)
c.255A>C (p.Gly85=)
7g.94401602A>GCA456486810COL1A2c.261A>G (p.Gly87=)
c.255A>G (p.Gly85=)
 gnomAD v4 COSMIC
7g.94401602A>TCA456486811COL1A2c.261A>T (p.Gly87=)
c.255A>T (p.Gly85=)
7g.94401603C>ACA368219376COL1A2c.262C>A (p.Leu88Ile)
c.256C>A (p.Leu86Ile)
 gnomAD v4
7g.94401603C>GCA368219375COL1A2c.262C>G (p.Leu88Val)
c.256C>G (p.Leu86Val)
7g.94401603C>TCA368219374COL1A2c.262C>T (p.Leu88Phe)
c.256C>T (p.Leu86Phe)
7g.94401604T>ACA368219377COL1A2c.263T>A (p.Leu88His)
c.257T>A (p.Leu86His)
7g.94401604T>CCA368219378COL1A2c.263T>C (p.Leu88Pro)
c.257T>C (p.Leu86Pro)
 gnomAD v4
7g.94401604T>GCA368219379COL1A2c.263T>G (p.Leu88Arg)
c.257T>G (p.Leu86Arg)
7g.94401605T>ACA162908554COL1A2c.264T>A (p.Leu88=)
c.258T>A (p.Leu86=)
 dbSNP gnomAD v2 gnomAD v4
7g.94401605T>CCA456486812COL1A2c.264T>C (p.Leu88=)
c.258T>C (p.Leu86=)
7g.94401605T>GCA456486813COL1A2c.264T>G (p.Leu88=)
c.258T>G (p.Leu86=)
7g.94401605T=CA1726790902COL1A2c.264T= (p.Leu88=)
c.258T= (p.Leu86=)
7g.94401606G>ACA368219380COL1A2c.265G>A (p.Gly89Ser)
c.259G>A (p.Gly87Ser)
7g.94401606G>CCA368219381COL1A2c.265G>C (p.Gly89Arg)
c.259G>C (p.Gly87Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94401606G=CA1726790903COL1A2c.265G= (p.Gly89=)
c.259G= (p.Gly87=)
7g.94401606G>TCA368219382COL1A2c.265G>T (p.Gly89Cys)
c.259G>T (p.Gly87Cys)
7g.94401607G>ACA368219385COL1A2c.266G>A (p.Gly89Asp)
c.260G>A (p.Gly87Asp)
 ClinVar gnomAD v4
7g.94401607G>CCA368219383COL1A2c.266G>C (p.Gly89Ala)
c.260G>C (p.Gly87Ala)
7g.94401607G=CA1726790904COL1A2c.266G= (p.Gly89=)
c.260G= (p.Gly87=)
7g.94401607G>TCA368219384COL1A2c.266G>T (p.Gly89Val)
c.260G>T (p.Gly87Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94401608C>ACA456486815COL1A2c.267C>A (p.Gly89=)
c.261C>A (p.Gly87=)
 gnomAD v4
7g.94401608C>GCA456486816COL1A2c.267C>G (p.Gly89=)
c.261C>G (p.Gly87=)
7g.94401608C>TCA456486814COL1A2c.267C>T (p.Gly89=)
c.261C>T (p.Gly87=)
 gnomAD v4
7g.94401609C>ACA368219386COL1A2c.268C>A (p.Pro90Thr)
c.262C>A (p.Pro88Thr)
 gnomAD v4
7g.94401609C=CA1726790905COL1A2c.268C= (p.Pro90=)
c.262C= (p.Pro88=)
7g.94401609C>GCA368219387COL1A2c.268C>G (p.Pro90Ala)
c.262C>G (p.Pro88Ala)
7g.94401609C>TCA368219388COL1A2c.268C>T (p.Pro90Ser)
c.262C>T (p.Pro88Ser)
 dbSNP gnomAD v4
7g.94401610C>ACA368219389COL1A2c.269C>A (p.Pro90His)
c.263C>A (p.Pro88His)
 gnomAD v4
7g.94401610C>GCA368219390COL1A2c.269C>G (p.Pro90Arg)
c.263C>G (p.Pro88Arg)
7g.94401610C>TCA368219391COL1A2c.269C>T (p.Pro90Leu)
c.263C>T (p.Pro88Leu)
 gnomAD v4
7g.94401611T>ACA456486817COL1A2c.270T>A (p.Pro90=)
c.264T>A (p.Pro88=)
 gnomAD v4
7g.94401611T>CCA456486818COL1A2c.270T>C (p.Pro90=)
c.264T>C (p.Pro88=)
 dbSNP gnomAD v2 gnomAD v4
7g.94401611T>GCA456486819COL1A2c.270T>G (p.Pro90=)
c.264T>G (p.Pro88=)
7g.94401611T=CA1726790906COL1A2c.270T= (p.Pro90=)
c.264T= (p.Pro88=)
7g.94401612G>ACA4346591COL1A2c.271G>A (p.Gly91Arg)
c.265G>A (p.Gly89Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401612G>CCA368219392COL1A2c.271G>C (p.Gly91Arg)
c.265G>C (p.Gly89Arg)
7g.94401612G=CA1726790907COL1A2c.271G= (p.Gly91=)
c.265G= (p.Gly89=)
7g.94401612G>TCA368219393COL1A2c.271G>T (p.Gly91Ter)
c.265G>T (p.Gly89Ter)
 ClinVar dbSNP
7g.94401613delCA2683766851COL1A2c.272del (p.Gly91AspfsTer5)
c.266del (p.Gly89AspfsTer5)
 gnomAD v4
7g.94401613G>ACA368219394COL1A2c.272G>A (p.Gly91Glu)
c.266G>A (p.Gly89Glu)
7g.94401613G>CCA162908557COL1A2c.272G>C (p.Gly91Ala)
c.266G>C (p.Gly89Ala)
 dbSNP gnomAD v4
7g.94401613G=CA1726790908COL1A2c.272G= (p.Gly91=)
c.266G= (p.Gly89=)
7g.94401613G>TCA368219395COL1A2c.272G>T (p.Gly91Val)
c.266G>T (p.Gly89Val)
7g.94401614A=CA1726790909COL1A2c.273A= (p.Gly91=)
c.267A= (p.Gly89=)
7g.94401614A>CCA456486820COL1A2c.273A>C (p.Gly91=)
c.267A>C (p.Gly89=)
 COSMIC
7g.94401614A>GCA4346592COL1A2c.273A>G (p.Gly91=)
c.267A>G (p.Gly89=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401614A>TCA456486821COL1A2c.273A>T (p.Gly91=)
c.267A>T (p.Gly89=)
7g.94401615C>ACA368219396COL1A2c.274C>A (p.Pro92Thr)
c.268C>A (p.Pro90Thr)
 gnomAD v4 COSMIC
7g.94401615C>GCA368219398COL1A2c.274C>G (p.Pro92Ala)
c.268C>G (p.Pro90Ala)
7g.94401615C>TCA368219397COL1A2c.274C>T (p.Pro92Ser)
c.268C>T (p.Pro90Ser)
 gnomAD v4
7g.94401616C>ACA368219399COL1A2c.275C>A (p.Pro92Gln)
c.269C>A (p.Pro90Gln)
7g.94401616C>GCA368219400COL1A2c.275C>G (p.Pro92Arg)
c.269C>G (p.Pro90Arg)
7g.94401616C>TCA368219401COL1A2c.275C>T (p.Pro92Leu)
c.269C>T (p.Pro90Leu)
 COSMIC
7g.94401617A>CCA456486822COL1A2c.276A>C (p.Pro92=)
c.270A>C (p.Pro90=)
7g.94401617A>GCA456486823COL1A2c.276A>G (p.Pro92=)
c.270A>G (p.Pro90=)
 gnomAD v4
7g.94401617A>TCA456486824COL1A2c.276A>T (p.Pro92=)
c.270A>T (p.Pro90=)
7g.94401618A=CA1726790910COL1A2c.277A= (p.Met93=)
c.271A= (p.Met91=)
7g.94401618A>CCA368219402COL1A2c.277A>C (p.Met93Leu)
c.271A>C (p.Met91Leu)
7g.94401618A>GCA368219403COL1A2c.277A>G (p.Met93Val)
c.271A>G (p.Met91Val)
 dbSNP gnomAD v3 gnomAD v4
7g.94401618A>TCA368219404COL1A2c.277A>T (p.Met93Leu)
c.271A>T (p.Met91Leu)
7g.94401621_94401625delCA2695208031COL1A2c.279+1_279+5del
c.273+1_273+5del
7g.94401619T>ACA368219405COL1A2c.278T>A (p.Met93Lys)
c.272T>A (p.Met91Lys)
7g.94401619T>CCA368219406COL1A2c.278T>C (p.Met93Thr)
c.272T>C (p.Met91Thr)
 ClinVar gnomAD v4
7g.94401619T>GCA368219407COL1A2c.278T>G (p.Met93Arg)
c.272T>G (p.Met91Arg)
7g.94401620G>ACA162908568COL1A2c.279G>A (p.Met93Ile)
c.273G>A (p.Met91Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94401620G>CCA368219408COL1A2c.279G>C (p.Met93Ile)
c.273G>C (p.Met91Ile)
7g.94401620G=CA1726790911COL1A2c.279G= (p.Met93=)
c.273G= (p.Met91=)
7g.94401620G>TCA368219409COL1A2c.279G>T (p.Met93Ile)
c.273G>T (p.Met91Ile)
7g.94401621delCA2683766852COL1A2c.279+1del
c.273+1del
 gnomAD v4
7g.94401621G>ACA162908574COL1A2c.279+1G>A (n.279+1G>A)
c.273+1G>A (n.273+1G>A)
 ClinVar dbSNP gnomAD v4
7g.94401621G>CCA368219410COL1A2c.279+1G>C (n.279+1G>C)
c.273+1G>C (n.273+1G>C)
7g.94401621G=CA1726790912COL1A2c.279+1G= (n.279+1G=)
c.273+1G= (n.273+1G=)
7g.94401621G>TCA162908576COL1A2c.279+1G>T (n.279+1G>T)
c.273+1G>T (n.273+1G>T)
 dbSNP
7g.94401622T>ACA368219411COL1A2c.279+2T>A (n.279+2T>A)
c.273+2T>A (n.273+2T>A)
7g.94401622T>CCA212996COL1A2c.279+2T>C (n.279+2T>C)
c.273+2T>C (n.273+2T>C)
 ClinVar dbSNP gnomAD v4
7g.94401622T>GCA368219412COL1A2c.279+2T>G (n.279+2T>G)
c.273+2T>G (n.273+2T>G)
7g.94401622T=CA1726790913COL1A2c.279+2T= (n.279+2T=)
c.273+2T= (n.273+2T=)
7g.94401623A=CA1726790914COL1A2c.279+3A= (n.279+3A=)
c.273+3A= (n.273+3A=)
7g.94401623A>CCA2573052940COL1A2c.279+3A>C (n.279+3A>C)
c.273+3A>C (n.273+3A>C)
 ClinVar dbSNP
7g.94401623A>GCA4346593COL1A2c.279+3A>G (n.279+3A>G)
c.273+3A>G (n.273+3A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401623A>TCA1104604222COL1A2c.279+3A>T (n.279+3A>T)
c.273+3A>T (n.273+3A>T)
 dbSNP gnomAD v4
7g.94401624T>CCA4346594COL1A2c.279+4T>C (n.279+4T>C)
c.273+4T>C (n.273+4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94401624T>GCA2683766853COL1A2c.279+4T>G (n.279+4T>G)
c.273+4T>G (n.273+4T>G)
 gnomAD v4
7g.94401624T=CA1726790915COL1A2c.279+4T= (n.279+4T=)
c.273+4T= (n.273+4T=)
7g.94401625G>ACA576321455COL1A2c.279+5G>A (n.279+5G>A)
c.273+5G>A (n.273+5G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.94401625G>CCA2683766854COL1A2c.279+5G>C (n.279+5G>C)
c.273+5G>C (n.273+5G>C)
 gnomAD v4
7g.94401625G=CA1726790916COL1A2c.279+5G= (n.279+5G=)
c.273+5G= (n.273+5G=)
7g.94401625G>TCA2683766855COL1A2c.279+5G>T (n.279+5G>T)
c.273+5G>T (n.273+5G>T)
 gnomAD v4
7g.94401626C>GCA2683766856COL1A2c.279+6C>G (n.279+6C>G)
c.273+6C>G (n.273+6C>G)
 gnomAD v4
7g.94401626C>TCA2683766857COL1A2c.279+6C>T (n.279+6C>T)
c.273+6C>T (n.273+6C>T)
 gnomAD v4
7g.94401627T>ACA4346595COL1A2c.279+7T>A (n.279+7T>A)
c.273+7T>A (n.273+7T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94401627T>CCA2683766858COL1A2c.279+7T>C (n.279+7T>C)
c.273+7T>C (n.273+7T>C)
 gnomAD v4
7g.94401627T=CA1726790917COL1A2c.279+7T= (n.279+7T=)
c.273+7T= (n.273+7T=)

Number of alleles fetched