2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC
| ClinVar |
2 | g.188988637_188988649delinsTCCTTCAGTAAGT | CA1315395823 | COL3A1 | c.630_636+6delinsTCCTTCAGTAAGT
| |
2 | g.188988638_188988649delinsTACTAAATATA | CA286411 | COL3A1 | c.631_636+6delinsTACTAAATATA
| ClinVar dbSNP |
2 | g.188988642_188988646delinsCAGTA | CA1315395826 | COL3A1 | c.635_636+3delinsCAGTA
| |
2 | g.188988648_188988651del | CA1315395827 | COL3A1 | c.636+5_636+8del
| ClinVar dbSNP |
2 | g.188988644G>A | CA007166 | COL3A1 | c.636+1G>A (n.636+1G>A)
| ClinVar dbSNP |
2 | g.188988644G>C | CA349848416 | COL3A1 | c.636+1G>C (n.636+1G>C)
| |
2 | g.188988644G= | CA1315395828 | COL3A1 | c.636+1G= (n.636+1G=)
| |
2 | g.188988644G>T | CA349848415 | COL3A1 | c.636+1G>T (n.636+1G>T)
| ClinVar |
2 | g.188988645T>A | CA349848417 | COL3A1 | c.636+2T>A (n.636+2T>A)
| |
2 | g.188988645T>C | CA349848418 | COL3A1 | c.636+2T>C (n.636+2T>C)
| |
2 | g.188988645T>G | CA349848419 | COL3A1 | c.636+2T>G (n.636+2T>G)
| |
2 | g.188988647A>T | CA2586965478 | COL3A1 | c.636+4A>T (n.636+4A>T)
| |
2 | g.188988648G>A | CA007173 | COL3A1 | c.636+5G>A (n.636+5G>A)
| ClinVar dbSNP |
2 | g.188988648G= | CA1315395829 | COL3A1 | c.636+5G= (n.636+5G=)
| |
2 | g.188988648_188988649delinsCA | CA2586965479 | COL3A1 | c.636+5_636+6delinsCA (n.636+5_636+6delinsCA)
| |
2 | g.188988649T>A | CA2577185130 | COL3A1 | c.636+6T>A (n.636+6T>A)
| |
2 | g.188988649T>C | CA076766 | COL3A1 | c.636+6T>C (n.636+6T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988649T= | CA1315395830 | COL3A1 | c.636+6T= (n.636+6T=)
| |
2 | g.188988650A>G | CA2662286500 | COL3A1 | c.636+7A>G (n.636+7A>G)
| gnomAD v4 |
2 | g.188988650_188988651insGAATATGTAA | CA2549526565 | COL3A1 | c.636+7_636+8insGAATATGTAA (n.636+7_636+8insGAATATGTAA)
| |
2 | g.188988652C>A | CA2662286501 | COL3A1 | c.636+9C>A (n.636+9C>A)
| gnomAD v4 |
2 | g.188988652C>T | CA2522396436 | COL3A1 | c.636+9C>T (n.636+9C>T)
| |
2 | g.188988653A>G | CA2662286502 | COL3A1 | c.636+10A>G (n.636+10A>G)
| gnomAD v4 |
2 | g.188988655_188988658del | CA2697551434 | COL3A1 | c.636+12_636+15del (n.636+12_636+15del)
| ClinVar |
2 | g.188988654A= | CA1315395831 | COL3A1 | c.636+11A= (n.636+11A=)
| |
2 | g.188988654A>G | CA538441020 | COL3A1 | c.636+11A>G (n.636+11A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988655T>A | CA2701023242 | COL3A1 | c.636+12T>A (n.636+12T>A)
| dbSNP |
2 | g.188988655T>C | CA2697551435 | COL3A1 | c.636+12T>C (n.636+12T>C)
| ClinVar |
2 | g.188988655T>G | CA076744 | COL3A1 | c.636+12T>G (n.636+12T>G)
| dbSNP ExAC gnomAD v2 |
2 | g.188988655T= | CA1315395832 | COL3A1 | c.636+12T= (n.636+12T=)
| |
2 | g.188988656dup | CA1040404081 | COL3A1 | c.636+13dup (n.636+13dup)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988656T>A | CA2662286503 | COL3A1 | c.636+13T>A (n.636+13T>A)
| gnomAD v4 |
2 | g.188988657A= | CA1315395833 | COL3A1 | c.636+14A= (n.636+14A=)
| |
2 | g.188988657A>C | CA538441021 | COL3A1 | c.636+14A>C (n.636+14A>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988658A= | CA1315395834 | COL3A1 | c.636+15A= (n.636+15A=)
| |
2 | g.188988658A>C | CA762191556 | COL3A1 | c.636+15A>C (n.636+15A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988658A>G | CA2662286504 | COL3A1 | c.636+15A>G (n.636+15A>G)
| gnomAD v4 |
2 | g.188988658A>T | CA2541634882 | COL3A1 | c.636+15A>T (n.636+15A>T)
| |
2 | g.188988659A>G | CA2662286505 | COL3A1 | c.636+16A>G (n.636+16A>G)
| gnomAD v4 |
2 | g.188988659A>T | CA2662286507 | COL3A1 | c.636+16A>T (n.636+16A>T)
| gnomAD v4 |
2 | g.188988660T>A | CA62588759 | COL3A1 | c.636+17T>A (n.636+17T>A)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988660T= | CA1315395835 | COL3A1 | c.636+17T= (n.636+17T=)
| |
2 | g.188988662del | CA2577185131 | COL3A1 | c.636+19del (n.636+19del)
| gnomAD v4 |
2 | g.188988661T>C | CA2531159155 | COL3A1 | c.636+18T>C (n.636+18T>C)
| |
2 | g.188988663A>G | CA2662286508 | COL3A1 | c.636+20A>G (n.636+20A>G)
| gnomAD v4 |
2 | g.188988665A= | CA1315395836 | COL3A1 | c.636+22A= (n.636+22A=)
| |
2 | g.188988665A>G | CA762191558 | COL3A1 | c.636+22A>G (n.636+22A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988666T>G | CA538441022 | COL3A1 | c.636+23T>G (n.636+23T>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988666T= | CA1315395837 | COL3A1 | c.636+23T= (n.636+23T=)
| |