2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC
| ClinVar |
2 | g.188989255del | CA2662286605 | COL3A1 | c.637-141del (n.637-141del)
| gnomAD v4 |
2 | g.188989255A= | CA1315396115 | COL3A1 | c.637-141A= (n.637-141A=)
| |
2 | g.188989255A>C | CA1315396114 | COL3A1 | c.637-141A>C (n.637-141A>C)
| dbSNP |
2 | g.188989255A>G | CA2662286607 | COL3A1 | c.637-141A>G (n.637-141A>G)
| gnomAD v4 |
2 | g.188989258A= | CA1315396116 | COL3A1 | c.637-138A= (n.637-138A=)
| |
2 | g.188989258A>G | CA1315396117 | COL3A1 | c.637-138A>G (n.637-138A>G)
| dbSNP gnomAD v4 |
2 | g.188989261T>C | CA2662286608 | COL3A1 | c.637-135T>C (n.637-135T>C)
| gnomAD v4 |
2 | g.188989262A= | CA1315396118 | COL3A1 | c.637-134A= (n.637-134A=)
| |
2 | g.188989262A>G | CA1315396119 | COL3A1 | c.637-134A>G (n.637-134A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989263T>A | CA62589292 | COL3A1 | c.637-133T>A (n.637-133T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989263T= | CA1315396120 | COL3A1 | c.637-133T= (n.637-133T=)
| |
2 | g.188989264C>A | CA62589293 | COL3A1 | c.637-132C>A (n.637-132C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989264C= | CA1315396121 | COL3A1 | c.637-132C= (n.637-132C=)
| |
2 | g.188989264C>T | CA2662286611 | COL3A1 | c.637-132C>T (n.637-132C>T)
| gnomAD v4 |
2 | g.188989265A= | CA1315396122 | COL3A1 | c.637-131A= (n.637-131A=)
| |
2 | g.188989265A>G | CA1040404436 | COL3A1 | c.637-131A>G (n.637-131A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989266T>G | CA2662286612 | COL3A1 | c.637-130T>G (n.637-130T>G)
| gnomAD v4 |
2 | g.188989268_188989270delinsTTC | CA1315396123 | COL3A1 | c.637-128_637-126delinsTTC (n.637-128_637-126delinsTTC)
| |
2 | g.188989269_188989270del | CA1315396124 | COL3A1 | c.637-127_637-126del (n.637-127_637-126del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989270C>A | CA2662286614 | COL3A1 | c.637-126C>A (n.637-126C>A)
| gnomAD v4 |
2 | g.188989270C>T | CA2662286615 | COL3A1 | c.637-126C>T (n.637-126C>T)
| gnomAD v4 |
2 | g.188989272T>C | CA62589294 | COL3A1 | c.637-124T>C (n.637-124T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989272T= | CA1315396125 | COL3A1 | c.637-124T= (n.637-124T=)
| |
2 | g.188989275_188989277del | CA2662286616 | COL3A1 | c.637-121_637-119del (n.637-121_637-119del)
| gnomAD v4 |
2 | g.188989276C>A | CA2662286617 | COL3A1 | c.637-120C>A (n.637-120C>A)
| gnomAD v4 |
2 | g.188989285T>C | CA1040404445 | COL3A1 | c.637-111T>C (n.637-111T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989285T= | CA1315396126 | COL3A1 | c.637-111T= (n.637-111T=)
| |
2 | g.188989286A= | CA1315396127 | COL3A1 | c.637-110A= (n.637-110A=)
| |
2 | g.188989286A>G | CA1040404451 | COL3A1 | c.637-110A>G (n.637-110A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989286A>T | CA2662286618 | COL3A1 | c.637-110A>T (n.637-110A>T)
| gnomAD v4 |
2 | g.188989291T>C | CA2662286619 | COL3A1 | c.637-105T>C (n.637-105T>C)
| gnomAD v4 |
2 | g.188989292A>G | CA2662286620 | COL3A1 | c.637-104A>G (n.637-104A>G)
| gnomAD v4 |
2 | g.188989296dup | CA2662286621 | COL3A1 | c.637-100dup (n.637-100dup)
| gnomAD v4 |
2 | g.188989297C>A | CA2577185145 | COL3A1 | c.637-99C>A (n.637-99C>A)
| |
2 | g.188989298T>C | CA2577185146 | COL3A1 | c.637-98T>C (n.637-98T>C)
| |
2 | g.188989298T>G | CA2753571964 | COL3A1 | c.637-98T>G (n.637-98T>G)
| |
2 | g.188989299A>G | CA2662286623 | COL3A1 | c.637-97A>G (n.637-97A>G)
| gnomAD v4 |
2 | g.188989302del | CA2577185147 | COL3A1 | c.637-94del (n.637-94del)
| gnomAD v4 |
2 | g.188989301A>G | CA2662286624 | COL3A1 | c.637-95A>G (n.637-95A>G)
| gnomAD v4 |
2 | g.188989301_188989315delinsAAGGAGGTTCCTTCC | CA1315396128 | COL3A1 | c.637-95_637-81delinsAAGGAGGTTCCTTCC (n.637-95_637-81delinsAAGGAGGTTCCTTCC)
| |
2 | g.188989302A= | CA1315396129 | COL3A1 | c.637-94A= (n.637-94A=)
| |
2 | g.188989302A>G | CA1315396130 | COL3A1 | c.637-94A>G (n.637-94A>G)
| dbSNP |
2 | g.188989306_188989319del | CA1040404452 | COL3A1 | c.637-90_637-77del (n.637-90_637-77del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989303G>A | CA1315396132 | COL3A1 | c.637-93G>A (n.637-93G>A)
| dbSNP |
2 | g.188989303G>C | CA2662286625 | COL3A1 | c.637-93G>C (n.637-93G>C)
| gnomAD v4 |
2 | g.188989303G= | CA1315396131 | COL3A1 | c.637-93G= (n.637-93G=)
| |
2 | g.188989304G>A | CA62589298 | COL3A1 | c.637-92G>A (n.637-92G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989304G= | CA1315396133 | COL3A1 | c.637-92G= (n.637-92G=)
| |
2 | g.188989304G>T | CA2577185148 | COL3A1 | c.637-92G>T (n.637-92G>T)
| |
2 | g.188989305A= | CA1315396134 | COL3A1 | c.637-91A= (n.637-91A=)
| |
2 | g.188989305A>T | CA1315396135 | COL3A1 | c.637-91A>T (n.637-91A>T)
| dbSNP |
2 | g.188989306G>A | CA62589307 | COL3A1 | c.637-90G>A (n.637-90G>A)
| dbSNP gnomAD v4 |
2 | g.188989306G>C | CA2662286627 | COL3A1 | c.637-90G>C (n.637-90G>C)
| gnomAD v4 |
2 | g.188989306G= | CA1315396136 | COL3A1 | c.637-90G= (n.637-90G=)
| |
2 | g.188989307G>A | CA538441060 | COL3A1 | c.637-89G>A (n.637-89G>A)
| gnomAD v2 |
2 | g.188989307G= | CA1315396137 | COL3A1 | c.637-89G= (n.637-89G=)
| |
2 | g.188989307G>T | CA62589314 | COL3A1 | c.637-89G>T (n.637-89G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989308T>G | CA1040404455 | COL3A1 | c.637-88T>G (n.637-88T>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989308T= | CA1315396138 | COL3A1 | c.637-88T= (n.637-88T=)
| |
2 | g.188989310C>A | CA2662286630 | COL3A1 | c.637-86C>A (n.637-86C>A)
| gnomAD v4 |
2 | g.188989311C>A | CA2662286631 | COL3A1 | c.637-85C>A (n.637-85C>A)
| gnomAD v4 |
2 | g.188989311C= | CA1315396139 | COL3A1 | c.637-85C= (n.637-85C=)
| |
2 | g.188989311C>G | CA762191720 | COL3A1 | c.637-85C>G (n.637-85C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989311C>T | CA2662286632 | COL3A1 | c.637-85C>T (n.637-85C>T)
| gnomAD v4 |
2 | g.188989312T>C | CA538441061 | COL3A1 | c.637-84T>C (n.637-84T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989312T>G | CA2662286633 | COL3A1 | c.637-84T>G (n.637-84T>G)
| gnomAD v4 |
2 | g.188989312T= | CA1315396140 | COL3A1 | c.637-84T= (n.637-84T=)
| |
2 | g.188989313T>A | CA2662286634 | COL3A1 | c.637-83T>A (n.637-83T>A)
| gnomAD v4 |
2 | g.188989313T>C | CA62589315 | COL3A1 | c.637-83T>C (n.637-83T>C)
| dbSNP gnomAD v4 |
2 | g.188989313T= | CA1315396141 | COL3A1 | c.637-83T= (n.637-83T=)
| |
2 | g.188989314C>A | CA2662286635 | COL3A1 | c.637-82C>A (n.637-82C>A)
| gnomAD v4 |
2 | g.188989315C>A | CA2577185149 | COL3A1 | c.637-81C>A (n.637-81C>A)
| gnomAD v4 |
2 | g.188989318G>A | CA2577185150 | COL3A1 | c.637-78G>A (n.637-78G>A)
| gnomAD v4 |
2 | g.188989318G>T | CA2662286636 | COL3A1 | c.637-78G>T (n.637-78G>T)
| gnomAD v4 |
2 | g.188989319A= | CA1315396142 | COL3A1 | c.637-77A= (n.637-77A=)
| |
2 | g.188989319A>C | CA1040404460 | COL3A1 | c.637-77A>C (n.637-77A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989320A= | CA1315396143 | COL3A1 | c.637-76A= (n.637-76A=)
| |
2 | g.188989320A>C | CA762191723 | COL3A1 | c.637-76A>C (n.637-76A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989320A>G | CA62589316 | COL3A1 | c.637-76A>G (n.637-76A>G)
| dbSNP |
2 | g.188989321T>C | CA2662286638 | COL3A1 | c.637-75T>C (n.637-75T>C)
| gnomAD v4 |
2 | g.188989322A= | CA1315396144 | COL3A1 | c.637-74A= (n.637-74A=)
| |
2 | g.188989322A>G | CA538441062 | COL3A1 | c.637-74A>G (n.637-74A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989323C>A | CA62589324 | COL3A1 | c.637-73C>A (n.637-73C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989323C= | CA1315396145 | COL3A1 | c.637-73C= (n.637-73C=)
| |
2 | g.188989324A= | CA1315396146 | COL3A1 | c.637-72A= (n.637-72A=)
| |
2 | g.188989324A>C | CA62589339 | COL3A1 | c.637-72A>C (n.637-72A>C)
| dbSNP |
2 | g.188989325T>A | CA1315396148 | COL3A1 | c.637-71T>A (n.637-71T>A)
| dbSNP |
2 | g.188989325T>G | CA2662286639 | COL3A1 | c.637-71T>G (n.637-71T>G)
| gnomAD v4 |
2 | g.188989325T= | CA1315396147 | COL3A1 | c.637-71T= (n.637-71T=)
| |
2 | g.188989327C>A | CA2577185151 | COL3A1 | c.637-69C>A (n.637-69C>A)
| gnomAD v4 |
2 | g.188989327C= | CA1315396149 | COL3A1 | c.637-69C= (n.637-69C=)
| |
2 | g.188989327C>G | CA2662286640 | COL3A1 | c.637-69C>G (n.637-69C>G)
| gnomAD v4 |
2 | g.188989327C>T | CA538441063 | COL3A1 | c.637-69C>T (n.637-69C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989328A>T | CA2662286642 | COL3A1 | c.637-68A>T (n.637-68A>T)
| gnomAD v4 |
2 | g.188989329C>A | CA2662286643 | COL3A1 | c.637-67C>A (n.637-67C>A)
| gnomAD v4 |
2 | g.188989329C= | CA1315396150 | COL3A1 | c.637-67C= (n.637-67C=)
| |
2 | g.188989329C>G | CA62589345 | COL3A1 | c.637-67C>G (n.637-67C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989329C>T | CA2662286644 | COL3A1 | c.637-67C>T (n.637-67C>T)
| gnomAD v4 |
2 | g.188989330T>G | CA1040404470 | COL3A1 | c.637-66T>G (n.637-66T>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188989330T= | CA1315396151 | COL3A1 | c.637-66T= (n.637-66T=)
| |
2 | g.188989332T>C | CA1315396152 | COL3A1 | c.637-64T>C (n.637-64T>C)
| dbSNP gnomAD v4 |
2 | g.188989332T= | CA1315396153 | COL3A1 | c.637-64T= (n.637-64T=)
| |
2 | g.188989333G>A | CA2662286647 | COL3A1 | c.637-63G>A (n.637-63G>A)
| gnomAD v4 |
2 | g.188989334T>A | CA2577185152 | COL3A1 | c.637-62T>A (n.637-62T>A)
| |
2 | g.188989334T>C | CA2839572037 | COL3A1 | c.637-62T>C (n.637-62T>C)
| |
2 | g.188989335A>G | CA2577185153 | COL3A1 | c.637-61A>G (n.637-61A>G)
| gnomAD v4 |
2 | g.188989338A= | CA1315396154 | COL3A1 | c.637-58A= (n.637-58A=)
| |
2 | g.188989338A>T | CA62589347 | COL3A1 | c.637-58A>T (n.637-58A>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188989339A>G | CA2662286648 | COL3A1 | c.637-57A>G (n.637-57A>G)
| gnomAD v4 |
2 | g.188989340T>C | CA762191727 | COL3A1 | c.637-56T>C (n.637-56T>C)
| dbSNP gnomAD v4 |
2 | g.188989340T>G | CA62589349 | COL3A1 | c.637-56T>G (n.637-56T>G)
| dbSNP |
2 | g.188989340T= | CA1315396155 | COL3A1 | c.637-56T= (n.637-56T=)
| |
2 | g.188989344T>A | CA2577185154 | COL3A1 | c.637-52T>A (n.637-52T>A)
| |
2 | g.188989344T>C | CA62589356 | COL3A1 | c.637-52T>C (n.637-52T>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188989344T= | CA1315396156 | COL3A1 | c.637-52T= (n.637-52T=)
| |
2 | g.188989348A>T | CA2662286653 | COL3A1 | c.637-48A>T (n.637-48A>T)
| gnomAD v4 |
2 | g.188989349A>C | CA2662286654 | COL3A1 | c.637-47A>C (n.637-47A>C)
| gnomAD v4 |
2 | g.188989350C>A | CA2662286655 | COL3A1 | c.637-46C>A (n.637-46C>A)
| gnomAD v4 |
2 | g.188989351A= | CA1315396157 | COL3A1 | c.637-45A= (n.637-45A=)
| |
2 | g.188989351A>C | CA1315396158 | COL3A1 | c.637-45A>C (n.637-45A>C)
| dbSNP |
2 | g.188989351A>G | CA2662286656 | COL3A1 | c.637-45A>G (n.637-45A>G)
| gnomAD v4 |
2 | g.188989352G>T | CA2662286657 | COL3A1 | c.637-44G>T (n.637-44G>T)
| gnomAD v4 |
2 | g.188989354A>G | CA2662286658 | COL3A1 | c.637-42A>G (n.637-42A>G)
| gnomAD v4 |
2 | g.188989355A= | CA1315396159 | COL3A1 | c.637-41A= (n.637-41A=)
| |
2 | g.188989355A>C | CA076773 | COL3A1 | c.637-41A>C (n.637-41A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188989355A>G | CA2662286659 | COL3A1 | c.637-41A>G (n.637-41A>G)
| gnomAD v4 |