Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94401530dup | CA2683766775 | COL1A2 | c.226-37dup (n.226-37dup) c.220-37dup (n.220-37dup) | gnomAD v4 |
7 | g.94401530del | CA2683766777 | COL1A2 | c.226-37del (n.226-37del) c.220-37del (n.220-37del) | gnomAD v4 |
7 | g.94401529_94401530del | CA2832553238 | COL1A2 | c.226-38_226-37del (n.226-38_226-37del) c.220-38_220-37del (n.220-38_220-37del) | |
7 | g.94401529T>A | CA576321446 | COL1A2 | c.226-38T>A (n.226-38T>A) c.220-38T>A (n.220-38T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401529T>C | CA2683766781 | COL1A2 | c.226-38T>C (n.226-38T>C) c.220-38T>C (n.220-38T>C) | gnomAD v4 |
7 | g.94401529T= | CA1726790865 | COL1A2 | c.226-38T= (n.226-38T=) c.220-38T= (n.220-38T=) | |
7 | g.94401529_94401531delinsTTA | CA1726790864 | COL1A2 | c.226-38_226-36delinsTTA (n.226-38_226-36delinsTTA) c.220-38_220-36delinsTTA (n.220-38_220-36delinsTTA) | |
7 | g.94401529_94401530insA | CA2683766782 | COL1A2 | c.226-38_226-37insA (n.226-38_226-37insA) c.220-38_220-37insA (n.220-38_220-37insA) | gnomAD v4 |
7 | g.94401530T>C | CA2683766784 | COL1A2 | c.226-37T>C (n.226-37T>C) c.220-37T>C (n.220-37T>C) | gnomAD v4 |
7 | g.94401542_94401543dup | CA4346566 | COL1A2 | c.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 |
7 | g.94401540_94401543dup | CA2683766783 | COL1A2 | c.226-27_226-24dup (n.226-27_226-24dup) c.220-27_220-24dup (n.220-27_220-24dup) | gnomAD v4 |
7 | g.94401542_94401543del | CA4346567 | COL1A2 | c.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 |
7 | g.94401540_94401543del | CA2578941452 | COL1A2 | c.226-27_226-24del (n.226-27_226-24del) c.220-27_220-24del (n.220-27_220-24del) | gnomAD v4 |
7 | g.94401531A= | CA1726790867 | COL1A2 | c.226-36A= (n.226-36A=) c.220-36A= (n.220-36A=) | |
7 | g.94401531A>C | CA2683766785 | COL1A2 | c.226-36A>C (n.226-36A>C) c.220-36A>C (n.220-36A>C) | gnomAD v4 |
7 | g.94401531A>G | CA1726790866 | COL1A2 | c.226-36A>G (n.226-36A>G) c.220-36A>G (n.220-36A>G) | dbSNP gnomAD v4 |
7 | g.94401531A>T | CA4346568 | COL1A2 | c.226-36A>T (n.226-36A>T) c.220-36A>T (n.220-36A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401532T>A | CA2683766786 | COL1A2 | c.226-35T>A (n.226-35T>A) c.220-35T>A (n.220-35T>A) | gnomAD v4 |
7 | g.94401532T>C | CA4346569 | COL1A2 | c.226-35T>C (n.226-35T>C) c.220-35T>C (n.220-35T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401532T= | CA1726790868 | COL1A2 | c.226-35T= (n.226-35T=) c.220-35T= (n.220-35T=) | |
7 | g.94401533A>C | CA2683766787 | COL1A2 | c.226-34A>C (n.226-34A>C) c.220-34A>C (n.220-34A>C) | gnomAD v4 |
7 | g.94401533A>G | CA2683766788 | COL1A2 | c.226-34A>G (n.226-34A>G) c.220-34A>G (n.220-34A>G) | dbSNP gnomAD v4 |
7 | g.94401533A>T | CA2683766789 | COL1A2 | c.226-34A>T (n.226-34A>T) c.220-34A>T (n.220-34A>T) | gnomAD v4 |
7 | g.94401534T>C | CA2683766790 | COL1A2 | c.226-33T>C (n.226-33T>C) c.220-33T>C (n.220-33T>C) | gnomAD v4 |
7 | g.94401534T>G | CA2683766791 | COL1A2 | c.226-33T>G (n.226-33T>G) c.220-33T>G (n.220-33T>G) | gnomAD v4 |
7 | g.94401535A= | CA1726790869 | COL1A2 | c.226-32A= (n.226-32A=) c.220-32A= (n.220-32A=) | |
7 | g.94401535A>C | CA4346571 | COL1A2 | c.226-32A>C (n.226-32A>C) c.220-32A>C (n.220-32A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401535A>G | CA4346570 | COL1A2 | c.226-32A>G (n.226-32A>G) c.220-32A>G (n.220-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401535A>T | CA2683766792 | COL1A2 | c.226-32A>T (n.226-32A>T) c.220-32A>T (n.220-32A>T) | gnomAD v4 |
7 | g.94401536T>A | CA2683766793 | COL1A2 | c.226-31T>A (n.226-31T>A) c.220-31T>A (n.220-31T>A) | gnomAD v4 |
7 | g.94401536T>C | CA2683766794 | COL1A2 | c.226-31T>C (n.226-31T>C) c.220-31T>C (n.220-31T>C) | gnomAD v4 |
7 | g.94401537A>C | CA2683766795 | COL1A2 | c.226-30A>C (n.226-30A>C) c.220-30A>C (n.220-30A>C) | gnomAD v4 |
7 | g.94401537A>G | CA2683766797 | COL1A2 | c.226-30A>G (n.226-30A>G) c.220-30A>G (n.220-30A>G) | gnomAD v4 |
7 | g.94401537A>T | CA2683766796 | COL1A2 | c.226-30A>T (n.226-30A>T) c.220-30A>T (n.220-30A>T) | gnomAD v4 |
7 | g.94401538del | CA2683766798 | COL1A2 | c.226-29del (n.226-29del) c.220-29del (n.220-29del) | gnomAD v4 |
7 | g.94401538T>A | CA2683766799 | COL1A2 | c.226-29T>A (n.226-29T>A) c.220-29T>A (n.220-29T>A) | gnomAD v4 |
7 | g.94401538T>C | CA4346572 | COL1A2 | c.226-29T>C (n.226-29T>C) c.220-29T>C (n.220-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401538T>G | CA2683766800 | COL1A2 | c.226-29T>G (n.226-29T>G) c.220-29T>G (n.220-29T>G) | gnomAD v4 |
7 | g.94401538T= | CA1726790870 | COL1A2 | c.226-29T= (n.226-29T=) c.220-29T= (n.220-29T=) | |
7 | g.94401539A>C | CA2683766801 | COL1A2 | c.226-28A>C (n.226-28A>C) c.220-28A>C (n.220-28A>C) | gnomAD v4 |
7 | g.94401539A>G | CA2683766802 | COL1A2 | c.226-28A>G (n.226-28A>G) c.220-28A>G (n.220-28A>G) | gnomAD v4 |
7 | g.94401539A>T | CA2683766803 | COL1A2 | c.226-28A>T (n.226-28A>T) c.220-28A>T (n.220-28A>T) | gnomAD v4 |
7 | g.94401539_94401542delinsATAT | CA1726790871 | COL1A2 | c.226-28_226-25delinsATAT (n.226-28_226-25delinsATAT) c.220-28_220-25delinsATAT (n.220-28_220-25delinsATAT) | |
7 | g.94401541_94401545del | CA2776991306 | COL1A2 | c.226-26_226-22del (n.226-26_226-22del) c.220-26_220-22del (n.220-26_220-22del) | |
7 | g.94401540del | CA2683766806 | COL1A2 | c.226-27del (n.226-27del) c.220-27del (n.220-27del) | gnomAD v4 |
7 | g.94401540T>C | CA2683766805 | COL1A2 | c.226-27T>C (n.226-27T>C) c.220-27T>C (n.220-27T>C) | gnomAD v4 |
7 | g.94401540T>G | CA2683766804 | COL1A2 | c.226-27T>G (n.226-27T>G) c.220-27T>G (n.220-27T>G) | gnomAD v4 |
7 | g.94401540_94401542del | CA4346573 | COL1A2 | c.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 |
7 | g.94401541A= | CA1726790872 | COL1A2 | c.226-26A= (n.226-26A=) c.220-26A= (n.220-26A=) | |
7 | g.94401541A>C | CA2683766808 | COL1A2 | c.226-26A>C (n.226-26A>C) c.220-26A>C (n.220-26A>C) | gnomAD v4 |
7 | g.94401541A>G | CA576321447 | COL1A2 | c.226-26A>G (n.226-26A>G) c.220-26A>G (n.220-26A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401541A>T | CA2683766809 | COL1A2 | c.226-26A>T (n.226-26A>T) c.220-26A>T (n.220-26A>T) | gnomAD v4 |
7 | g.94401541_94401544del | CA2683766807 | COL1A2 | c.226-26_226-23del (n.226-26_226-23del) c.220-26_220-23del (n.220-26_220-23del) | gnomAD v4 |
7 | g.94401543_94401545del | CA2578941453 | COL1A2 | c.226-24_226-22del (n.226-24_226-22del) c.220-24_220-22del (n.220-24_220-22del) | gnomAD v4 |
7 | g.94401542del | CA2683766811 | COL1A2 | c.226-25del (n.226-25del) c.220-25del (n.220-25del) | gnomAD v4 |
7 | g.94401542T>A | CA576321448 | COL1A2 | c.226-25T>A (n.226-25T>A) c.220-25T>A (n.220-25T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401542T>C | CA2578941454 | COL1A2 | c.226-25T>C (n.226-25T>C) c.220-25T>C (n.220-25T>C) | gnomAD v4 |
7 | g.94401542T= | CA1726790873 | COL1A2 | c.226-25T= (n.226-25T=) c.220-25T= (n.220-25T=) | |
7 | g.94401542_94401544delinsTAA | CA1726790874 | COL1A2 | c.226-25_226-23delinsTAA (n.226-25_226-23delinsTAA) c.220-25_220-23delinsTAA (n.220-25_220-23delinsTAA) | |
7 | g.94401543_94401546del | CA2683766810 | COL1A2 | c.226-24_226-21del (n.226-24_226-21del) c.220-24_220-21del (n.220-24_220-21del) | gnomAD v4 |
7 | g.94401543A= | CA1726790875 | COL1A2 | c.226-24A= (n.226-24A=) c.220-24A= (n.220-24A=) | |
7 | g.94401543A>G | CA2683766813 | COL1A2 | c.226-24A>G (n.226-24A>G) c.220-24A>G (n.220-24A>G) | gnomAD v4 |
7 | g.94401543A>T | CA162908366 | COL1A2 | c.226-24A>T (n.226-24A>T) c.220-24A>T (n.220-24A>T) | dbSNP |
7 | g.94401543_94401544insTAA | CA1726790876 | COL1A2 | c.226-24_226-23insTAA (n.226-24_226-23insTAA) c.220-24_220-23insTAA (n.220-24_220-23insTAA) | dbSNP |
7 | g.94401543_94401544del | CA456486772 | COL1A2 | c.226-24_226-23del (n.226-24_226-23del) c.220-24_220-23del (n.220-24_220-23del) | dbSNP gnomAD v4 |
7 | g.94401543_94401544dup | CA4346574 | COL1A2 | c.226-24_226-23dup (n.226-24_226-23dup) c.220-24_220-23dup (n.220-24_220-23dup) | dbSNP ExAC |
7 | g.94401544del | CA2683766812 | COL1A2 | c.226-23del (n.226-23del) c.220-23del (n.220-23del) | gnomAD v4 |
7 | g.94401543_94401544insT | CA4346575 | COL1A2 | c.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 |
7 | g.94401544A= | CA1726790878 | COL1A2 | c.226-23A= (n.226-23A=) c.220-23A= (n.220-23A=) | |
7 | g.94401544A>G | CA2683766816 | COL1A2 | c.226-23A>G (n.226-23A>G) c.220-23A>G (n.220-23A>G) | gnomAD v4 |
7 | g.94401544A>T | CA4346579 | COL1A2 | c.226-23A>T (n.226-23A>T) c.220-23A>T (n.220-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.94401544_94401545del | CA368219287 | COL1A2 | c.226-23_226-22del (n.226-23_226-22del) c.220-23_220-22del (n.220-23_220-22del) | gnomAD v4 |
7 | g.94401544_94401546del | CA2683766814 | COL1A2 | c.226-23_226-21del (n.226-23_226-21del) c.220-23_220-21del (n.220-23_220-21del) | gnomAD v4 |
7 | g.94401544_94401546delinsATT | CA1726790877 | COL1A2 | c.226-23_226-21delinsATT (n.226-23_226-21delinsATT) c.220-23_220-21delinsATT (n.220-23_220-21delinsATT) | |
7 | g.94401544_94401547del | CA2683766815 | COL1A2 | c.226-23_226-20del (n.226-23_226-20del) c.220-23_220-20del (n.220-23_220-20del) | gnomAD v4 |
7 | g.94401544_94401545insAT | CA1104604164 | COL1A2 | c.226-23_226-22insAT (n.226-23_226-22insAT) c.220-23_220-22insAT (n.220-23_220-22insAT) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401544_94401545insATT | CA2683766821 | COL1A2 | c.226-23_226-22insATT (n.226-23_226-22insATT) c.220-23_220-22insATT (n.220-23_220-22insATT) | gnomAD v4 |
7 | g.94401545T>A | CA2578941455 | COL1A2 | c.226-22T>A (n.226-22T>A) c.220-22T>A (n.220-22T>A) | gnomAD v4 |
7 | g.94401545T>C | CA2683766817 | COL1A2 | c.226-22T>C (n.226-22T>C) c.220-22T>C (n.220-22T>C) | gnomAD v4 |
7 | g.94401545_94401546insATT | CA2776991318 | COL1A2 | c.226-22_226-21insATT (n.226-22_226-21insATT) c.220-22_220-21insATT (n.220-22_220-21insATT) | |
7 | g.94401545_94401556del | CA2695208030 | COL1A2 | c.226-22_226-11del (n.226-22_226-11del) c.220-22_220-11del (n.220-22_220-11del) | |
7 | g.94401556dup | CA203197 | COL1A2 | c.226-11dup (n.226-11dup) c.220-11dup (n.220-11dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401555_94401556dup | CA4346577 | COL1A2 | c.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 |
7 | g.94401554_94401556dup | CA4346580 | COL1A2 | c.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 |
7 | g.94401553_94401556dup | CA2683766820 | COL1A2 | c.226-14_226-11dup (n.226-14_226-11dup) c.220-14_220-11dup (n.220-14_220-11dup) | gnomAD v4 |
7 | g.94401556del | CA4346576 | COL1A2 | c.226-11del (n.226-11del) c.220-11del (n.220-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401555_94401556del | CA4346578 | COL1A2 | c.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 |
7 | g.94401554_94401556del | CA1104604173 | COL1A2 | c.226-13_226-11del (n.226-13_226-11del) c.220-13_220-11del (n.220-13_220-11del) | gnomAD v3 gnomAD v4 |
7 | g.94401553_94401556del | CA2683766818 | COL1A2 | c.226-14_226-11del (n.226-14_226-11del) c.220-14_220-11del (n.220-14_220-11del) | gnomAD v4 |
7 | g.94401547_94401560del | CA2683766819 | COL1A2 | c.226-20_226-7del (n.226-20_226-7del) c.220-20_220-7del (n.220-20_220-7del) | gnomAD v4 |
7 | g.94401546T>A | CA2578941456 | COL1A2 | c.226-21T>A (n.226-21T>A) c.220-21T>A (n.220-21T>A) | gnomAD v4 |
7 | g.94401546T>C | CA2683766823 | COL1A2 | c.226-21T>C (n.226-21T>C) c.220-21T>C (n.220-21T>C) | gnomAD v4 |
7 | g.94401546_94401547insGT | CA2683766822 | COL1A2 | c.226-21_226-20insGT (n.226-21_226-20insGT) c.220-21_220-20insGT (n.220-21_220-20insGT) | gnomAD v4 |
7 | g.94401546_94401547insAA | CA2683766824 | COL1A2 | c.226-21_226-20insAA (n.226-21_226-20insAA) c.220-21_220-20insAA (n.220-21_220-20insAA) | gnomAD v4 |
7 | g.94401547T>C | CA576321449 | COL1A2 | c.226-20T>C (n.226-20T>C) c.220-20T>C (n.220-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401547T= | CA1726790879 | COL1A2 | c.226-20T= (n.226-20T=) c.220-20T= (n.220-20T=) | |
7 | g.94401548T>A | CA2683766826 | COL1A2 | c.226-19T>A (n.226-19T>A) c.220-19T>A (n.220-19T>A) | gnomAD v4 |
7 | g.94401548T>C | CA2683766825 | COL1A2 | c.226-19T>C (n.226-19T>C) c.220-19T>C (n.220-19T>C) | gnomAD v4 |
7 | g.94401548_94401631delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC | CA1726790880 | COL1A2 | c.226-19_279+11delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC c.220-19_273+11delinsTTTTTTTTTACTTCTCTAGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATC | |
7 | g.94401549T>C | CA2683766827 | COL1A2 | c.226-18T>C (n.226-18T>C) c.220-18T>C (n.220-18T>C) | gnomAD v4 |
7 | g.94401549T>G | CA2578941457 | COL1A2 | c.226-18T>G (n.226-18T>G) c.220-18T>G (n.220-18T>G) | gnomAD v4 |
7 | g.94401550_94401632del | CA162908466 | COL1A2 | c.226-17_279+12del c.220-17_273+12del | dbSNP |
7 | g.94401549_94401550insC | CA2683766828 | COL1A2 | c.226-18_226-17insC (n.226-18_226-17insC) c.220-18_220-17insC (n.220-18_220-17insC) | gnomAD v4 |
7 | g.94401550T>C | CA4346581 | COL1A2 | c.226-17T>C (n.226-17T>C) c.220-17T>C (n.220-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401550T= | CA1726790881 | COL1A2 | c.226-17T= (n.226-17T=) c.220-17T= (n.220-17T=) | |
7 | g.94401551T>C | CA4346583 | COL1A2 | c.226-16T>C (n.226-16T>C) c.220-16T>C (n.220-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401551T>G | CA4346582 | COL1A2 | c.226-16T>G (n.226-16T>G) c.220-16T>G (n.220-16T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401551T= | CA1726790882 | COL1A2 | c.226-16T= (n.226-16T=) c.220-16T= (n.220-16T=) | |
7 | g.94401552T>C | CA2683766829 | COL1A2 | c.226-15T>C (n.226-15T>C) c.220-15T>C (n.220-15T>C) | gnomAD v4 |
7 | g.94401553T>C | CA2683766830 | COL1A2 | c.226-14T>C (n.226-14T>C) c.220-14T>C (n.220-14T>C) | gnomAD v4 |
7 | g.94401553T>G | CA4346584 | COL1A2 | c.226-14T>G (n.226-14T>G) c.220-14T>G (n.220-14T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401553T= | CA1726790883 | COL1A2 | c.226-14T= (n.226-14T=) c.220-14T= (n.220-14T=) | |
7 | g.94401554T>C | CA2683766831 | COL1A2 | c.226-13T>C (n.226-13T>C) c.220-13T>C (n.220-13T>C) | gnomAD v4 |
7 | g.94401554_94401555insC | CA2683766833 | COL1A2 | c.226-13_226-12insC (n.226-13_226-12insC) c.220-13_220-12insC (n.220-13_220-12insC) | gnomAD v4 |
7 | g.94401555T>C | CA2683766832 | COL1A2 | c.226-12T>C (n.226-12T>C) c.220-12T>C (n.220-12T>C) | gnomAD v4 |
7 | g.94401556T>A | CA2499219066 | COL1A2 | c.226-11T>A (n.226-11T>A) c.220-11T>A (n.220-11T>A) | ClinVar dbSNP |
7 | g.94401556T>C | CA2683766834 | COL1A2 | c.226-11T>C (n.226-11T>C) c.220-11T>C (n.220-11T>C) | gnomAD v4 |
7 | g.94401556_94401558delinsTAC | CA1726790884 | COL1A2 | c.226-11_226-9delinsTAC (n.226-11_226-9delinsTAC) c.220-11_220-9delinsTAC (n.220-11_220-9delinsTAC) | |
7 | g.94401556_94401557insTTTTTTTTTTA | CA1104604186 | COL1A2 | c.226-11_226-10insTTTTTTTTTTA (n.226-11_226-10insTTTTTTTTTTA) c.220-11_220-10insTTTTTTTTTTA (n.220-11_220-10insTTTTTTTTTTA) | gnomAD v3 gnomAD v4 |
7 | g.94401557del | CA2683766835 | COL1A2 | c.226-10del (n.226-10del) c.220-10del (n.220-10del) | gnomAD v4 |
7 | g.94401557A= | CA1726790885 | COL1A2 | c.226-10A= (n.226-10A=) c.220-10A= (n.220-10A=) | |
7 | g.94401557A>G | CA2683766836 | COL1A2 | c.226-10A>G (n.226-10A>G) c.220-10A>G (n.220-10A>G) | gnomAD v4 |
7 | g.94401557A>T | CA576321451 | COL1A2 | c.226-10A>T (n.226-10A>T) c.220-10A>T (n.220-10A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401557_94401558del | CA576321450 | COL1A2 | c.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 |
7 | g.94401558C>A | CA2683766837 | COL1A2 | c.226-9C>A (n.226-9C>A) c.220-9C>A (n.220-9C>A) | gnomAD v4 |
7 | g.94401558C= | CA1726790886 | COL1A2 | c.226-9C= (n.226-9C=) c.220-9C= (n.220-9C=) | |
7 | g.94401558C>G | CA2683766838 | COL1A2 | c.226-9C>G (n.226-9C>G) c.220-9C>G (n.220-9C>G) | gnomAD v4 |
7 | g.94401558C>T | CA576321452 | COL1A2 | c.226-9C>T (n.226-9C>T) c.220-9C>T (n.220-9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401559T>C | CA2683766839 | COL1A2 | c.226-8T>C (n.226-8T>C) c.220-8T>C (n.220-8T>C) | gnomAD v4 |
7 | g.94401559T>G | CA2683766840 | COL1A2 | c.226-8T>G (n.226-8T>G) c.220-8T>G (n.220-8T>G) | gnomAD v4 |
7 | g.94401560_94401561insTTT | CA576321453 | COL1A2 | c.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 |
7 | g.94401560_94401561insTTTT | CA1104604189 | COL1A2 | c.226-7_226-6insTTTT (n.226-7_226-6insTTTT) c.220-7_220-6insTTTT (n.220-7_220-6insTTTT) | gnomAD v3 gnomAD v4 |
7 | g.94401560T>A | CA2683766842 | COL1A2 | c.226-7T>A (n.226-7T>A) c.220-7T>A (n.220-7T>A) | gnomAD v4 |
7 | g.94401560T>C | CA2573142429 | COL1A2 | c.226-7T>C (n.226-7T>C) c.220-7T>C (n.220-7T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.94401563_94401564del | CA2683766841 | COL1A2 | c.226-4_226-3del (n.226-4_226-3del) c.220-4_220-3del (n.220-4_220-3del) | gnomAD v4 |
7 | g.94401561C>A | CA4346585 | COL1A2 | c.226-6C>A (n.226-6C>A) c.220-6C>A (n.220-6C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401561C= | CA1726790887 | COL1A2 | c.226-6C= (n.226-6C=) c.220-6C= (n.220-6C=) | |
7 | g.94401561C>G | CA1104604194 | COL1A2 | c.226-6C>G (n.226-6C>G) c.220-6C>G (n.220-6C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401561C>T | CA4346586 | COL1A2 | c.226-6C>T (n.226-6C>T) c.220-6C>T (n.220-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.94401562T>A | CA2683766845 | COL1A2 | c.226-5T>A (n.226-5T>A) c.220-5T>A (n.220-5T>A) | gnomAD v4 |
7 | g.94401562T>C | CA2683766844 | COL1A2 | c.226-5T>C (n.226-5T>C) c.220-5T>C (n.220-5T>C) | gnomAD v4 |
7 | g.94401562T>G | CA2683766843 | COL1A2 | c.226-5T>G (n.226-5T>G) c.220-5T>G (n.220-5T>G) | gnomAD v4 |
7 | g.94401563C>A | CA2683766846 | COL1A2 | c.226-4C>A (n.226-4C>A) c.220-4C>A (n.220-4C>A) | dbSNP gnomAD v4 |
7 | g.94401563C= | CA1726790888 | COL1A2 | c.226-4C= (n.226-4C=) c.220-4C= (n.220-4C=) | |
7 | g.94401563C>G | CA2578941458 | COL1A2 | c.226-4C>G (n.226-4C>G) c.220-4C>G (n.220-4C>G) | dbSNP gnomAD v4 |
7 | g.94401563C>T | CA576321454 | COL1A2 | c.226-4C>T (n.226-4C>T) c.220-4C>T (n.220-4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401564T>A | CA2683766847 | COL1A2 | c.226-3T>A (n.226-3T>A) c.220-3T>A (n.220-3T>A) | gnomAD v4 |
7 | g.94401564T>C | CA2683766848 | COL1A2 | c.226-3T>C (n.226-3T>C) c.220-3T>C (n.220-3T>C) | gnomAD v4 |
7 | g.94401565A= | CA1726790889 | COL1A2 | c.226-2A= (n.226-2A=) c.220-2A= (n.220-2A=) | |
7 | g.94401565A>C | CA368219288 | COL1A2 | c.226-2A>C (n.226-2A>C) c.220-2A>C (n.220-2A>C) | gnomAD v4 |
7 | g.94401565A>G | CA212997 | COL1A2 | c.226-2A>G (n.226-2A>G) c.220-2A>G (n.220-2A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.94401565A>T | CA368219289 | COL1A2 | c.226-2A>T (n.226-2A>T) c.220-2A>T (n.220-2A>T) | gnomAD v4 |
7 | g.94401565_94401569del | CA2776991332 | COL1A2 | c.226-2_228del c.220-2_222del | |
7 | g.94401566G>A | CA162908508 | COL1A2 | c.226-1G>A (n.226-1G>A) c.220-1G>A (n.220-1G>A) | dbSNP gnomAD v4 |
7 | g.94401566G>C | CA127126 | COL1A2 | c.226-1G>C (n.226-1G>C) c.220-1G>C (n.220-1G>C) | ClinVar dbSNP |
7 | g.94401566G= | CA1726790890 | COL1A2 | c.226-1G= (n.226-1G=) c.220-1G= (n.220-1G=) | |
7 | g.94401566G>T | CA368219290 | COL1A2 | c.226-1G>T (n.226-1G>T) c.220-1G>T (n.220-1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401567A>C | CA368219291 | COL1A2 | c.226A>C (p.Asn76His) c.220A>C (p.Asn74His) | gnomAD v4 |
7 | g.94401567A>G | CA368219292 | COL1A2 | c.226A>G (p.Asn76Asp) c.220A>G (p.Asn74Asp) | gnomAD v4 |
7 | g.94401567A>T | CA368219293 | COL1A2 | c.226A>T (p.Asn76Tyr) c.220A>T (p.Asn74Tyr) | |
7 | g.94401568A>C | CA368219294 | COL1A2 | c.227A>C (p.Asn76Thr) c.221A>C (p.Asn74Thr) | gnomAD v4 |
7 | g.94401568A>G | CA368219296 | COL1A2 | c.227A>G (p.Asn76Ser) c.221A>G (p.Asn74Ser) | gnomAD v4 COSMIC |
7 | g.94401568A>T | CA368219295 | COL1A2 | c.227A>T (p.Asn76Ile) c.221A>T (p.Asn74Ile) | gnomAD v4 |
7 | g.94401569C>A | CA368219297 | COL1A2 | c.228C>A (p.Asn76Lys) c.222C>A (p.Asn74Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401569C= | CA1726790891 | COL1A2 | c.228C= (p.Asn76=) c.222C= (p.Asn74=) | |
7 | g.94401569C>G | CA368219298 | COL1A2 | c.228C>G (p.Asn76Lys) c.222C>G (p.Asn74Lys) | gnomAD v4 |
7 | g.94401569C>T | CA456486784 | COL1A2 | c.228C>T (p.Asn76=) c.222C>T (p.Asn74=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401570T>A | CA368219299 | COL1A2 | c.229T>A (p.Phe77Ile) c.223T>A (p.Phe75Ile) | |
7 | g.94401570T>C | CA368219300 | COL1A2 | c.229T>C (p.Phe77Leu) c.223T>C (p.Phe75Leu) | gnomAD v4 |
7 | g.94401570T>G | CA368219301 | COL1A2 | c.229T>G (p.Phe77Val) c.223T>G (p.Phe75Val) | |
7 | g.94401572del | CA2573052939 | COL1A2 | c.231del (p.Phe77LeufsTer19) c.225del (p.Phe75LeufsTer19) | ClinVar dbSNP |
7 | g.94401571T>A | CA368219302 | COL1A2 | c.230T>A (p.Phe77Tyr) c.224T>A (p.Phe75Tyr) | |
7 | g.94401571T>C | CA368219303 | COL1A2 | c.230T>C (p.Phe77Ser) c.224T>C (p.Phe75Ser) | gnomAD v4 |
7 | g.94401571T>G | CA368219304 | COL1A2 | c.230T>G (p.Phe77Cys) c.224T>G (p.Phe75Cys) | |
7 | g.94401572T>A | CA368219305 | COL1A2 | c.231T>A (p.Phe77Leu) c.225T>A (p.Phe75Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401572T>C | CA456486788 | COL1A2 | c.231T>C (p.Phe77=) c.225T>C (p.Phe75=) | gnomAD v4 |
7 | g.94401572T>G | CA368219306 | COL1A2 | c.231T>G (p.Phe77Leu) c.225T>G (p.Phe75Leu) | |
7 | g.94401572T= | CA1726790892 | COL1A2 | c.231T= (p.Phe77=) c.225T= (p.Phe75=) | |
7 | g.94401573G>A | CA368219309 | COL1A2 | c.232G>A (p.Ala78Thr) c.226G>A (p.Ala76Thr) | gnomAD v4 |
7 | g.94401573G>C | CA368219308 | COL1A2 | c.232G>C (p.Ala78Pro) c.226G>C (p.Ala76Pro) | |
7 | g.94401573G>T | CA368219307 | COL1A2 | c.232G>T (p.Ala78Ser) c.226G>T (p.Ala76Ser) | gnomAD v3 gnomAD v4 COSMIC |
7 | g.94401574C>A | CA368219310 | COL1A2 | c.233C>A (p.Ala78Asp) c.227C>A (p.Ala76Asp) | gnomAD v4 |
7 | g.94401574C>G | CA368219312 | COL1A2 | c.233C>G (p.Ala78Gly) c.227C>G (p.Ala76Gly) | |
7 | g.94401574C>T | CA368219311 | COL1A2 | c.233C>T (p.Ala78Val) c.227C>T (p.Ala76Val) | gnomAD v4 |
7 | g.94401575T>A | CA456486791 | COL1A2 | c.234T>A (p.Ala78=) c.228T>A (p.Ala76=) | |
7 | g.94401575T>C | CA456486792 | COL1A2 | c.234T>C (p.Ala78=) c.228T>C (p.Ala76=) | gnomAD v4 |
7 | g.94401575T>G | CA456486793 | COL1A2 | c.234T>G (p.Ala78=) c.228T>G (p.Ala76=) | gnomAD v4 |
7 | g.94401576G>A | CA368219313 | COL1A2 | c.235G>A (p.Ala79Thr) c.229G>A (p.Ala77Thr) | gnomAD v4 |
7 | g.94401576G>C | CA368219314 | COL1A2 | c.235G>C (p.Ala79Pro) c.229G>C (p.Ala77Pro) | |
7 | g.94401576G>T | CA368219315 | COL1A2 | c.235G>T (p.Ala79Ser) c.229G>T (p.Ala77Ser) | gnomAD v4 |
7 | g.94401577C>A | CA368219316 | COL1A2 | c.236C>A (p.Ala79Asp) c.230C>A (p.Ala77Asp) | gnomAD v4 |
7 | g.94401577C>G | CA368219317 | COL1A2 | c.236C>G (p.Ala79Gly) c.230C>G (p.Ala77Gly) | |
7 | g.94401577C>T | CA368219318 | COL1A2 | c.236C>T (p.Ala79Val) c.230C>T (p.Ala77Val) | gnomAD v4 |
7 | g.94401578T>A | CA456486794 | COL1A2 | c.237T>A (p.Ala79=) c.231T>A (p.Ala77=) | gnomAD v4 |
7 | g.94401578T>C | CA456486795 | COL1A2 | c.237T>C (p.Ala79=) c.231T>C (p.Ala77=) | gnomAD v4 |
7 | g.94401578T>G | CA456486796 | COL1A2 | c.237T>G (p.Ala79=) c.231T>G (p.Ala77=) | |
7 | g.94401579C>A | CA368219319 | COL1A2 | c.238C>A (p.Gln80Lys) c.232C>A (p.Gln78Lys) | gnomAD v4 |
7 | g.94401579C>G | CA368219320 | COL1A2 | c.238C>G (p.Gln80Glu) c.232C>G (p.Gln78Glu) | |
7 | g.94401579C>T | CA368219321 | COL1A2 | c.238C>T (p.Gln80Ter) c.232C>T (p.Gln78Ter) | gnomAD v4 |
7 | g.94401580A>C | CA368219322 | COL1A2 | c.239A>C (p.Gln80Pro) c.233A>C (p.Gln78Pro) | |
7 | g.94401580A>G | CA368219323 | COL1A2 | c.239A>G (p.Gln80Arg) c.233A>G (p.Gln78Arg) | gnomAD v4 |
7 | g.94401580A>T | CA368219324 | COL1A2 | c.239A>T (p.Gln80Leu) c.233A>T (p.Gln78Leu) | |
7 | g.94401581G>A | CA456486798 | COL1A2 | c.240G>A (p.Gln80=) c.234G>A (p.Gln78=) | gnomAD v4 COSMIC |
7 | g.94401581G>C | CA368219326 | COL1A2 | c.240G>C (p.Gln80His) c.234G>C (p.Gln78His) | |
7 | g.94401581G>T | CA368219325 | COL1A2 | c.240G>T (p.Gln80His) c.234G>T (p.Gln78His) | |
7 | g.94401582T>A | CA368219327 | COL1A2 | c.241T>A (p.Tyr81Asn) c.235T>A (p.Tyr79Asn) | |
7 | g.94401582T>C | CA368219328 | COL1A2 | c.241T>C (p.Tyr81His) c.235T>C (p.Tyr79His) | gnomAD v4 |
7 | g.94401582T>G | CA368219329 | COL1A2 | c.241T>G (p.Tyr81Asp) c.235T>G (p.Tyr79Asp) | |
7 | g.94401583A>C | CA368219330 | COL1A2 | c.242A>C (p.Tyr81Ser) c.236A>C (p.Tyr79Ser) | |
7 | g.94401583A>G | CA368219331 | COL1A2 | c.242A>G (p.Tyr81Cys) c.236A>G (p.Tyr79Cys) | gnomAD v4 |
7 | g.94401583A>T | CA368219332 | COL1A2 | c.242A>T (p.Tyr81Phe) c.236A>T (p.Tyr79Phe) | |
7 | g.94401584T>A | CA368219333 | COL1A2 | c.243T>A (p.Tyr81Ter) c.237T>A (p.Tyr79Ter) | |
7 | g.94401584T>C | CA456486800 | COL1A2 | c.243T>C (p.Tyr81=) c.237T>C (p.Tyr79=) | gnomAD v4 |
7 | g.94401584T>G | CA368219334 | COL1A2 | c.243T>G (p.Tyr81Ter) c.237T>G (p.Tyr79Ter) | |
7 | g.94401585G>A | CA368219335 | COL1A2 | c.244G>A (p.Asp82Asn) c.238G>A (p.Asp80Asn) | gnomAD v4 |
7 | g.94401585G>C | CA368219336 | COL1A2 | c.244G>C (p.Asp82His) c.238G>C (p.Asp80His) | |
7 | g.94401585G>T | CA368219337 | COL1A2 | c.244G>T (p.Asp82Tyr) c.238G>T (p.Asp80Tyr) | gnomAD v4 |
7 | g.94401586A= | CA1726790893 | COL1A2 | c.245A= (p.Asp82=) c.239A= (p.Asp80=) | |
7 | g.94401586A>C | CA368219340 | COL1A2 | c.245A>C (p.Asp82Ala) c.239A>C (p.Asp80Ala) | |
7 | g.94401586A>G | CA368219339 | COL1A2 | c.245A>G (p.Asp82Gly) c.239A>G (p.Asp80Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.94401586A>T | CA368219338 | COL1A2 | c.245A>T (p.Asp82Val) c.239A>T (p.Asp80Val) | dbSNP gnomAD v4 |
7 | g.94401587T>A | CA368219341 | COL1A2 | c.246T>A (p.Asp82Glu) c.240T>A (p.Asp80Glu) | gnomAD v4 |
7 | g.94401587T>C | CA4346587 | COL1A2 | c.246T>C (p.Asp82=) c.240T>C (p.Asp80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401587T>G | CA368219342 | COL1A2 | c.246T>G (p.Asp82Glu) c.240T>G (p.Asp80Glu) | dbSNP |
7 | g.94401587T= | CA1726790894 | COL1A2 | c.246T= (p.Asp82=) c.240T= (p.Asp80=) | |
7 | g.94401588G>A | CA368219343 | COL1A2 | c.247G>A (p.Gly83Arg) c.241G>A (p.Gly81Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401588G>C | CA368219344 | COL1A2 | c.247G>C (p.Gly83Arg) c.241G>C (p.Gly81Arg) | |
7 | g.94401588G= | CA1726790895 | COL1A2 | c.247G= (p.Gly83=) c.241G= (p.Gly81=) | |
7 | g.94401588G>T | CA368219345 | COL1A2 | c.247G>T (p.Gly83Ter) c.241G>T (p.Gly81Ter) | gnomAD v4 |
7 | g.94401588_94401590del | CA2683766849 | COL1A2 | c.247_249del (p.Gly83del) c.241_243del (p.Gly81del) | gnomAD v4 |
7 | g.94401589G>A | CA368219346 | COL1A2 | c.248G>A (p.Gly83Glu) c.242G>A (p.Gly81Glu) | gnomAD v4 COSMIC |
7 | g.94401589G>C | CA368219347 | COL1A2 | c.248G>C (p.Gly83Ala) c.242G>C (p.Gly81Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401589G= | CA1726790896 | COL1A2 | c.248G= (p.Gly83=) c.242G= (p.Gly81=) | |
7 | g.94401589G>T | CA368219348 | COL1A2 | c.248G>T (p.Gly83Val) c.242G>T (p.Gly81Val) | |
7 | g.94401590A>C | CA456486803 | COL1A2 | c.249A>C (p.Gly83=) c.243A>C (p.Gly81=) | |
7 | g.94401590A>G | CA456486802 | COL1A2 | c.249A>G (p.Gly83=) c.243A>G (p.Gly81=) | gnomAD v4 |
7 | g.94401590A>T | CA456486801 | COL1A2 | c.249A>T (p.Gly83=) c.243A>T (p.Gly81=) | |
7 | g.94401593del | CA2578941459 | COL1A2 | c.252del (p.Gly85GlufsTer11) c.246del (p.Gly83GlufsTer11) | gnomAD v4 |
7 | g.94401591A>C | CA368219349 | COL1A2 | c.250A>C (p.Lys84Gln) c.244A>C (p.Lys82Gln) | |
7 | g.94401591A>G | CA368219350 | COL1A2 | c.250A>G (p.Lys84Glu) c.244A>G (p.Lys82Glu) | gnomAD v4 |
7 | g.94401591A>T | CA368219351 | COL1A2 | c.250A>T (p.Lys84Ter) c.244A>T (p.Lys82Ter) | |
7 | g.94401592A>C | CA368219354 | COL1A2 | c.251A>C (p.Lys84Thr) c.245A>C (p.Lys82Thr) | |
7 | g.94401592A>G | CA368219353 | COL1A2 | c.251A>G (p.Lys84Arg) c.245A>G (p.Lys82Arg) | gnomAD v4 |
7 | g.94401592A>T | CA368219352 | COL1A2 | c.251A>T (p.Lys84Ile) c.245A>T (p.Lys82Ile) | |
7 | g.94401593A>C | CA368219355 | COL1A2 | c.252A>C (p.Lys84Asn) c.246A>C (p.Lys82Asn) | |
7 | g.94401593A>G | CA456486804 | COL1A2 | c.252A>G (p.Lys84=) c.246A>G (p.Lys82=) | gnomAD v4 |
7 | g.94401593A>T | CA368219356 | COL1A2 | c.252A>T (p.Lys84Asn) c.246A>T (p.Lys82Asn) | |
7 | g.94401594G>A | CA368219357 | COL1A2 | c.253G>A (p.Gly85Arg) c.247G>A (p.Gly83Arg) | gnomAD v4 |
7 | g.94401594G>C | CA368219358 | COL1A2 | c.253G>C (p.Gly85Arg) c.247G>C (p.Gly83Arg) | |
7 | g.94401594G>T | CA368219359 | COL1A2 | c.253G>T (p.Gly85Ter) c.247G>T (p.Gly83Ter) | gnomAD v4 |
7 | g.94401594_94401595delinsAA | CA645565819 | COL1A2 | c.253_254delinsAA (p.Gly85Lys) c.247_248delinsAA (p.Gly83Lys) | COSMIC |
7 | g.94401595G>A | CA368219360 | COL1A2 | c.254G>A (p.Gly85Glu) c.248G>A (p.Gly83Glu) | gnomAD v4 |
7 | g.94401595G>C | CA368219361 | COL1A2 | c.254G>C (p.Gly85Ala) c.248G>C (p.Gly83Ala) | |
7 | g.94401595G= | CA1726790897 | COL1A2 | c.254G= (p.Gly85=) c.248G= (p.Gly83=) | |
7 | g.94401595G>T | CA368219362 | COL1A2 | c.254G>T (p.Gly85Val) c.248G>T (p.Gly83Val) | ClinVar dbSNP gnomAD v4 |
7 | g.94401596A= | CA1726790898 | COL1A2 | c.255A= (p.Gly85=) c.249A= (p.Gly83=) | |
7 | g.94401596A>C | CA4346588 | COL1A2 | c.255A>C (p.Gly85=) c.249A>C (p.Gly83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401596A>G | CA4346589 | COL1A2 | c.255A>G (p.Gly85=) c.249A>G (p.Gly83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401596A>T | CA456486805 | COL1A2 | c.255A>T (p.Gly85=) c.249A>T (p.Gly83=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401597G>A | CA368219363 | COL1A2 | c.256G>A (p.Val86Ile) c.250G>A (p.Val84Ile) | gnomAD v4 |
7 | g.94401597G>C | CA4346590 | COL1A2 | c.256G>C (p.Val86Leu) c.250G>C (p.Val84Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401597G= | CA1726790899 | COL1A2 | c.256G= (p.Val86=) c.250G= (p.Val84=) | |
7 | g.94401597G>T | CA368219364 | COL1A2 | c.256G>T (p.Val86Phe) c.250G>T (p.Val84Phe) | |
7 | g.94401598T>A | CA368219366 | COL1A2 | c.257T>A (p.Val86Asp) c.251T>A (p.Val84Asp) | |
7 | g.94401598T>C | CA368219367 | COL1A2 | c.257T>C (p.Val86Ala) c.251T>C (p.Val84Ala) | dbSNP gnomAD v4 |
7 | g.94401598T>G | CA368219365 | COL1A2 | c.257T>G (p.Val86Gly) c.251T>G (p.Val84Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401598T= | CA1726790900 | COL1A2 | c.257T= (p.Val86=) c.251T= (p.Val84=) | |
7 | g.94401599T>A | CA456486806 | COL1A2 | c.258T>A (p.Val86=) c.252T>A (p.Val84=) | |
7 | g.94401599T>C | CA456486808 | COL1A2 | c.258T>C (p.Val86=) c.252T>C (p.Val84=) | gnomAD v4 |
7 | g.94401599T>G | CA456486807 | COL1A2 | c.258T>G (p.Val86=) c.252T>G (p.Val84=) | |
7 | g.94401604_94401615del | CA2683766850 | COL1A2 | c.263_274del (p.Leu88_Gly91del) c.257_268del (p.Leu86_Gly89del) | gnomAD v4 |
7 | g.94401600G>A | CA368219370 | COL1A2 | c.259G>A (p.Gly87Arg) c.253G>A (p.Gly85Arg) | gnomAD v4 COSMIC |
7 | g.94401600G>C | CA368219368 | COL1A2 | c.259G>C (p.Gly87Arg) c.253G>C (p.Gly85Arg) | |
7 | g.94401600G>T | CA368219369 | COL1A2 | c.259G>T (p.Gly87Ter) c.253G>T (p.Gly85Ter) | COSMIC |
7 | g.94401601G>A | CA368219371 | COL1A2 | c.260G>A (p.Gly87Glu) c.254G>A (p.Gly85Glu) | dbSNP |
7 | g.94401601G>C | CA368219372 | COL1A2 | c.260G>C (p.Gly87Ala) c.254G>C (p.Gly85Ala) | dbSNP |
7 | g.94401601G= | CA1726790901 | COL1A2 | c.260G= (p.Gly87=) c.254G= (p.Gly85=) | |
7 | g.94401601G>T | CA368219373 | COL1A2 | c.260G>T (p.Gly87Val) c.254G>T (p.Gly85Val) | gnomAD v4 |
7 | g.94401602A>C | CA456486809 | COL1A2 | c.261A>C (p.Gly87=) c.255A>C (p.Gly85=) | |
7 | g.94401602A>G | CA456486810 | COL1A2 | c.261A>G (p.Gly87=) c.255A>G (p.Gly85=) | gnomAD v4 COSMIC |
7 | g.94401602A>T | CA456486811 | COL1A2 | c.261A>T (p.Gly87=) c.255A>T (p.Gly85=) | |
7 | g.94401603C>A | CA368219376 | COL1A2 | c.262C>A (p.Leu88Ile) c.256C>A (p.Leu86Ile) | gnomAD v4 |
7 | g.94401603C>G | CA368219375 | COL1A2 | c.262C>G (p.Leu88Val) c.256C>G (p.Leu86Val) | |
7 | g.94401603C>T | CA368219374 | COL1A2 | c.262C>T (p.Leu88Phe) c.256C>T (p.Leu86Phe) | |
7 | g.94401604T>A | CA368219377 | COL1A2 | c.263T>A (p.Leu88His) c.257T>A (p.Leu86His) | |
7 | g.94401604T>C | CA368219378 | COL1A2 | c.263T>C (p.Leu88Pro) c.257T>C (p.Leu86Pro) | gnomAD v4 |
7 | g.94401604T>G | CA368219379 | COL1A2 | c.263T>G (p.Leu88Arg) c.257T>G (p.Leu86Arg) | |
7 | g.94401605T>A | CA162908554 | COL1A2 | c.264T>A (p.Leu88=) c.258T>A (p.Leu86=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401605T>C | CA456486812 | COL1A2 | c.264T>C (p.Leu88=) c.258T>C (p.Leu86=) | |
7 | g.94401605T>G | CA456486813 | COL1A2 | c.264T>G (p.Leu88=) c.258T>G (p.Leu86=) | |
7 | g.94401605T= | CA1726790902 | COL1A2 | c.264T= (p.Leu88=) c.258T= (p.Leu86=) | |
7 | g.94401606G>A | CA368219380 | COL1A2 | c.265G>A (p.Gly89Ser) c.259G>A (p.Gly87Ser) | |
7 | g.94401606G>C | CA368219381 | COL1A2 | c.265G>C (p.Gly89Arg) c.259G>C (p.Gly87Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401606G= | CA1726790903 | COL1A2 | c.265G= (p.Gly89=) c.259G= (p.Gly87=) | |
7 | g.94401606G>T | CA368219382 | COL1A2 | c.265G>T (p.Gly89Cys) c.259G>T (p.Gly87Cys) | |
7 | g.94401607G>A | CA368219385 | COL1A2 | c.266G>A (p.Gly89Asp) c.260G>A (p.Gly87Asp) | ClinVar gnomAD v4 |
7 | g.94401607G>C | CA368219383 | COL1A2 | c.266G>C (p.Gly89Ala) c.260G>C (p.Gly87Ala) | |
7 | g.94401607G= | CA1726790904 | COL1A2 | c.266G= (p.Gly89=) c.260G= (p.Gly87=) | |
7 | g.94401607G>T | CA368219384 | COL1A2 | c.266G>T (p.Gly89Val) c.260G>T (p.Gly87Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401608C>A | CA456486815 | COL1A2 | c.267C>A (p.Gly89=) c.261C>A (p.Gly87=) | gnomAD v4 |
7 | g.94401608C>G | CA456486816 | COL1A2 | c.267C>G (p.Gly89=) c.261C>G (p.Gly87=) | |
7 | g.94401608C>T | CA456486814 | COL1A2 | c.267C>T (p.Gly89=) c.261C>T (p.Gly87=) | gnomAD v4 |
7 | g.94401609C>A | CA368219386 | COL1A2 | c.268C>A (p.Pro90Thr) c.262C>A (p.Pro88Thr) | gnomAD v4 |
7 | g.94401609C= | CA1726790905 | COL1A2 | c.268C= (p.Pro90=) c.262C= (p.Pro88=) | |
7 | g.94401609C>G | CA368219387 | COL1A2 | c.268C>G (p.Pro90Ala) c.262C>G (p.Pro88Ala) | |
7 | g.94401609C>T | CA368219388 | COL1A2 | c.268C>T (p.Pro90Ser) c.262C>T (p.Pro88Ser) | dbSNP gnomAD v4 |
7 | g.94401610C>A | CA368219389 | COL1A2 | c.269C>A (p.Pro90His) c.263C>A (p.Pro88His) | gnomAD v4 |
7 | g.94401610C>G | CA368219390 | COL1A2 | c.269C>G (p.Pro90Arg) c.263C>G (p.Pro88Arg) | |
7 | g.94401610C>T | CA368219391 | COL1A2 | c.269C>T (p.Pro90Leu) c.263C>T (p.Pro88Leu) | gnomAD v4 |
7 | g.94401611T>A | CA456486817 | COL1A2 | c.270T>A (p.Pro90=) c.264T>A (p.Pro88=) | gnomAD v4 |
7 | g.94401611T>C | CA456486818 | COL1A2 | c.270T>C (p.Pro90=) c.264T>C (p.Pro88=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401611T>G | CA456486819 | COL1A2 | c.270T>G (p.Pro90=) c.264T>G (p.Pro88=) | |
7 | g.94401611T= | CA1726790906 | COL1A2 | c.270T= (p.Pro90=) c.264T= (p.Pro88=) | |
7 | g.94401612G>A | CA4346591 | COL1A2 | c.271G>A (p.Gly91Arg) c.265G>A (p.Gly89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401612G>C | CA368219392 | COL1A2 | c.271G>C (p.Gly91Arg) c.265G>C (p.Gly89Arg) | |
7 | g.94401612G= | CA1726790907 | COL1A2 | c.271G= (p.Gly91=) c.265G= (p.Gly89=) | |
7 | g.94401612G>T | CA368219393 | COL1A2 | c.271G>T (p.Gly91Ter) c.265G>T (p.Gly89Ter) | ClinVar dbSNP |
7 | g.94401613del | CA2683766851 | COL1A2 | c.272del (p.Gly91AspfsTer5) c.266del (p.Gly89AspfsTer5) | gnomAD v4 |
7 | g.94401613G>A | CA368219394 | COL1A2 | c.272G>A (p.Gly91Glu) c.266G>A (p.Gly89Glu) | |
7 | g.94401613G>C | CA162908557 | COL1A2 | c.272G>C (p.Gly91Ala) c.266G>C (p.Gly89Ala) | dbSNP gnomAD v4 |
7 | g.94401613G= | CA1726790908 | COL1A2 | c.272G= (p.Gly91=) c.266G= (p.Gly89=) | |
7 | g.94401613G>T | CA368219395 | COL1A2 | c.272G>T (p.Gly91Val) c.266G>T (p.Gly89Val) | |
7 | g.94401614A= | CA1726790909 | COL1A2 | c.273A= (p.Gly91=) c.267A= (p.Gly89=) | |
7 | g.94401614A>C | CA456486820 | COL1A2 | c.273A>C (p.Gly91=) c.267A>C (p.Gly89=) | COSMIC |
7 | g.94401614A>G | CA4346592 | COL1A2 | c.273A>G (p.Gly91=) c.267A>G (p.Gly89=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401614A>T | CA456486821 | COL1A2 | c.273A>T (p.Gly91=) c.267A>T (p.Gly89=) | |
7 | g.94401615C>A | CA368219396 | COL1A2 | c.274C>A (p.Pro92Thr) c.268C>A (p.Pro90Thr) | gnomAD v4 COSMIC |
7 | g.94401615C>G | CA368219398 | COL1A2 | c.274C>G (p.Pro92Ala) c.268C>G (p.Pro90Ala) | |
7 | g.94401615C>T | CA368219397 | COL1A2 | c.274C>T (p.Pro92Ser) c.268C>T (p.Pro90Ser) | gnomAD v4 |
7 | g.94401616C>A | CA368219399 | COL1A2 | c.275C>A (p.Pro92Gln) c.269C>A (p.Pro90Gln) | |
7 | g.94401616C>G | CA368219400 | COL1A2 | c.275C>G (p.Pro92Arg) c.269C>G (p.Pro90Arg) | |
7 | g.94401616C>T | CA368219401 | COL1A2 | c.275C>T (p.Pro92Leu) c.269C>T (p.Pro90Leu) | COSMIC |
7 | g.94401617A>C | CA456486822 | COL1A2 | c.276A>C (p.Pro92=) c.270A>C (p.Pro90=) | |
7 | g.94401617A>G | CA456486823 | COL1A2 | c.276A>G (p.Pro92=) c.270A>G (p.Pro90=) | gnomAD v4 |
7 | g.94401617A>T | CA456486824 | COL1A2 | c.276A>T (p.Pro92=) c.270A>T (p.Pro90=) | |
7 | g.94401618A= | CA1726790910 | COL1A2 | c.277A= (p.Met93=) c.271A= (p.Met91=) | |
7 | g.94401618A>C | CA368219402 | COL1A2 | c.277A>C (p.Met93Leu) c.271A>C (p.Met91Leu) | |
7 | g.94401618A>G | CA368219403 | COL1A2 | c.277A>G (p.Met93Val) c.271A>G (p.Met91Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401618A>T | CA368219404 | COL1A2 | c.277A>T (p.Met93Leu) c.271A>T (p.Met91Leu) | |
7 | g.94401621_94401625del | CA2695208031 | COL1A2 | c.279+1_279+5del c.273+1_273+5del | |
7 | g.94401619T>A | CA368219405 | COL1A2 | c.278T>A (p.Met93Lys) c.272T>A (p.Met91Lys) | |
7 | g.94401619T>C | CA368219406 | COL1A2 | c.278T>C (p.Met93Thr) c.272T>C (p.Met91Thr) | ClinVar gnomAD v4 |
7 | g.94401619T>G | CA368219407 | COL1A2 | c.278T>G (p.Met93Arg) c.272T>G (p.Met91Arg) | |
7 | g.94401620G>A | CA162908568 | COL1A2 | c.279G>A (p.Met93Ile) c.273G>A (p.Met91Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94401620G>C | CA368219408 | COL1A2 | c.279G>C (p.Met93Ile) c.273G>C (p.Met91Ile) | |
7 | g.94401620G= | CA1726790911 | COL1A2 | c.279G= (p.Met93=) c.273G= (p.Met91=) | |
7 | g.94401620G>T | CA368219409 | COL1A2 | c.279G>T (p.Met93Ile) c.273G>T (p.Met91Ile) | |
7 | g.94401621del | CA2683766852 | COL1A2 | c.279+1del c.273+1del | gnomAD v4 |
7 | g.94401621G>A | CA162908574 | COL1A2 | c.279+1G>A (n.279+1G>A) c.273+1G>A (n.273+1G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.94401621G>C | CA368219410 | COL1A2 | c.279+1G>C (n.279+1G>C) c.273+1G>C (n.273+1G>C) | |
7 | g.94401621G= | CA1726790912 | COL1A2 | c.279+1G= (n.279+1G=) c.273+1G= (n.273+1G=) | |
7 | g.94401621G>T | CA162908576 | COL1A2 | c.279+1G>T (n.279+1G>T) c.273+1G>T (n.273+1G>T) | dbSNP |
7 | g.94401622T>A | CA368219411 | COL1A2 | c.279+2T>A (n.279+2T>A) c.273+2T>A (n.273+2T>A) | |
7 | g.94401622T>C | CA212996 | COL1A2 | c.279+2T>C (n.279+2T>C) c.273+2T>C (n.273+2T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.94401622T>G | CA368219412 | COL1A2 | c.279+2T>G (n.279+2T>G) c.273+2T>G (n.273+2T>G) | |
7 | g.94401622T= | CA1726790913 | COL1A2 | c.279+2T= (n.279+2T=) c.273+2T= (n.273+2T=) | |
7 | g.94401623A= | CA1726790914 | COL1A2 | c.279+3A= (n.279+3A=) c.273+3A= (n.273+3A=) | |
7 | g.94401623A>C | CA2573052940 | COL1A2 | c.279+3A>C (n.279+3A>C) c.273+3A>C (n.273+3A>C) | ClinVar dbSNP |
7 | g.94401623A>G | CA4346593 | COL1A2 | c.279+3A>G (n.279+3A>G) c.273+3A>G (n.273+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401623A>T | CA1104604222 | COL1A2 | c.279+3A>T (n.279+3A>T) c.273+3A>T (n.273+3A>T) | dbSNP gnomAD v4 |
7 | g.94401624T>C | CA4346594 | COL1A2 | c.279+4T>C (n.279+4T>C) c.273+4T>C (n.273+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401624T>G | CA2683766853 | COL1A2 | c.279+4T>G (n.279+4T>G) c.273+4T>G (n.273+4T>G) | gnomAD v4 |
7 | g.94401624T= | CA1726790915 | COL1A2 | c.279+4T= (n.279+4T=) c.273+4T= (n.273+4T=) | |
7 | g.94401625G>A | CA576321455 | COL1A2 | c.279+5G>A (n.279+5G>A) c.273+5G>A (n.273+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94401625G>C | CA2683766854 | COL1A2 | c.279+5G>C (n.279+5G>C) c.273+5G>C (n.273+5G>C) | gnomAD v4 |
7 | g.94401625G= | CA1726790916 | COL1A2 | c.279+5G= (n.279+5G=) c.273+5G= (n.273+5G=) | |
7 | g.94401625G>T | CA2683766855 | COL1A2 | c.279+5G>T (n.279+5G>T) c.273+5G>T (n.273+5G>T) | gnomAD v4 |
7 | g.94401626C>G | CA2683766856 | COL1A2 | c.279+6C>G (n.279+6C>G) c.273+6C>G (n.273+6C>G) | gnomAD v4 |
7 | g.94401626C>T | CA2683766857 | COL1A2 | c.279+6C>T (n.279+6C>T) c.273+6C>T (n.273+6C>T) | gnomAD v4 |
7 | g.94401627T>A | CA4346595 | COL1A2 | c.279+7T>A (n.279+7T>A) c.273+7T>A (n.273+7T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94401627T>C | CA2683766858 | COL1A2 | c.279+7T>C (n.279+7T>C) c.273+7T>C (n.273+7T>C) | gnomAD v4 |
7 | g.94401627T= | CA1726790917 | COL1A2 | c.279+7T= (n.279+7T=) c.273+7T= (n.273+7T=) | |
7 | g.94401629A= | CA1726790918 | COL1A2 | c.279+9A= (n.279+9A=) c.273+9A= (n.273+9A=) | |
7 | g.94401629A>C | CA4346596 | COL1A2 | c.279+9A>C (n.279+9A>C) c.273+9A>C (n.273+9A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94401629A>T | CA2683766859 | COL1A2 | c.279+9A>T (n.279+9A>T) c.273+9A>T (n.273+9A>T) | gnomAD v4 |