2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC
| ClinVar |
2 | g.188988574A= | CA1315395787 | COL3A1 | c.583-16A= (n.583-16A=)
| |
2 | g.188988574A>C | CA2739278520 | COL3A1 | c.583-16A>C (n.583-16A>C)
| ClinVar |
2 | g.188988574A>G | CA538441018 | COL3A1 | c.583-16A>G (n.583-16A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988574A>T | CA1315395788 | COL3A1 | c.583-16A>T (n.583-16A>T)
| dbSNP gnomAD v4 |
2 | g.188988575T>C | CA538441019 | COL3A1 | c.583-15T>C (n.583-15T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988575T= | CA1315395789 | COL3A1 | c.583-15T= (n.583-15T=)
| |
2 | g.188988576A= | CA1315395790 | COL3A1 | c.583-14A= (n.583-14A=)
| |
2 | g.188988576A>T | CA076720 | COL3A1 | c.583-14A>T (n.583-14A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988578T>C | CA2662286486 | COL3A1 | c.583-12T>C (n.583-12T>C)
| gnomAD v4 |
2 | g.188988578T>G | CA2662286487 | COL3A1 | c.583-12T>G (n.583-12T>G)
| gnomAD v4 |
2 | g.188988579C>A | CA2662286488 | COL3A1 | c.583-11C>A (n.583-11C>A)
| gnomAD v4 |
2 | g.188988579C>T | CA2662286489 | COL3A1 | c.583-11C>T (n.583-11C>T)
| ClinVar gnomAD v4 |
2 | g.188988580T>C | CA2662286490 | COL3A1 | c.583-10T>C (n.583-10T>C)
| gnomAD v4 |
2 | g.188988581A>G | CA2662286492 | COL3A1 | c.583-9A>G (n.583-9A>G)
| gnomAD v4 |
2 | g.188988581A>T | CA2662286491 | COL3A1 | c.583-9A>T (n.583-9A>T)
| gnomAD v4 |
2 | g.188988582C>A | CA2581798770 | COL3A1 | c.583-8C>A (n.583-8C>A)
| gnomAD v4 |
2 | g.188988582C= | CA1315395791 | COL3A1 | c.583-8C= (n.583-8C=)
| |
2 | g.188988582C>G | CA2581798771 | COL3A1 | c.583-8C>G (n.583-8C>G)
| |
2 | g.188988582C>T | CA007081 | COL3A1 | c.583-8C>T (n.583-8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988583T>C | CA10613438 | COL3A1 | c.583-7T>C (n.583-7T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988583T= | CA1315395792 | COL3A1 | c.583-7T= (n.583-7T=)
| |
2 | g.188988584C>A | CA2662286493 | COL3A1 | c.583-6C>A (n.583-6C>A)
| ClinVar gnomAD v4 |
2 | g.188988585A>G | CA2662286494 | COL3A1 | c.583-5A>G (n.583-5A>G)
| gnomAD v4 |
2 | g.188988586C>A | CA2662286495 | COL3A1 | c.583-4C>A (n.583-4C>A)
| gnomAD v4 |
2 | g.188988586C>G | CA2739278521 | COL3A1 | c.583-4C>G (n.583-4C>G)
| ClinVar |
2 | g.188988586C>T | CA2825001066 | COL3A1 | c.583-4C>T (n.583-4C>T)
| ClinVar |
2 | g.188988587T>C | CA2586965477 | COL3A1 | c.583-3T>C (n.583-3T>C)
| |
2 | g.188988588A>C | CA349848306 | COL3A1 | c.583-2A>C (n.583-2A>C)
| |
2 | g.188988588A>G | CA349848307 | COL3A1 | c.583-2A>G (n.583-2A>G)
| |
2 | g.188988588A>T | CA349848308 | COL3A1 | c.583-2A>T (n.583-2A>T)
| |
2 | g.188988589G>A | CA349848309 | COL3A1 | c.583-1G>A (n.583-1G>A)
| gnomAD v4 |
2 | g.188988589G>C | CA349848310 | COL3A1 | c.583-1G>C (n.583-1G>C)
| |
2 | g.188988589G>T | CA349848311 | COL3A1 | c.583-1G>T (n.583-1G>T)
| |
2 | g.188988590G>A | CA62588603 | COL3A1 | c.583G>A (p.Gly195Arg)
| ClinVar dbSNP |
2 | g.188988590G>C | CA007089 | COL3A1 | c.583G>C (p.Gly195Arg)
| ClinVar dbSNP |
2 | g.188988590G= | CA1315395793 | COL3A1 | c.583G= (p.Gly195=)
| |
2 | g.188988590G>T | CA349848312 | COL3A1 | c.583G>T (p.Gly195Ter)
| |
2 | g.188988591G>A | CA349848313 | COL3A1 | c.584G>A (p.Gly195Glu)
| |
2 | g.188988591G>C | CA349848314 | COL3A1 | c.584G>C (p.Gly195Ala)
| |
2 | g.188988591G= | CA1315395794 | COL3A1 | c.584G= (p.Gly195=)
| |
2 | g.188988591G>T | CA349848315 | COL3A1 | c.584G>T (p.Gly195Val)
| ClinVar dbSNP |
2 | g.188988592A= | CA1315395795 | COL3A1 | c.585A= (p.Gly195=)
| |
2 | g.188988592A>C | CA430308942 | COL3A1 | c.585A>C (p.Gly195=)
| |
2 | g.188988592A>G | CA430308943 | COL3A1 | c.585A>G (p.Gly195=)
| gnomAD v4 |
2 | g.188988592A>T | CA430308944 | COL3A1 | c.585A>T (p.Gly195=)
| dbSNP |
2 | g.188988593T>A | CA349848317 | COL3A1 | c.586T>A (p.Ser196Thr)
| |
2 | g.188988593T>C | CA007097 | COL3A1 | c.586T>C (p.Ser196Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988593T>G | CA349848316 | COL3A1 | c.586T>G (p.Ser196Ala)
| |
2 | g.188988593T= | CA1315395796 | COL3A1 | c.586T= (p.Ser196=)
| |
2 | g.188988594C>A | CA349848318 | COL3A1 | c.587C>A (p.Ser196Tyr)
| gnomAD v4 |
2 | g.188988594C>G | CA349848320 | COL3A1 | c.587C>G (p.Ser196Cys)
| |
2 | g.188988594C>T | CA349848319 | COL3A1 | c.587C>T (p.Ser196Phe)
| |
2 | g.188988595T>A | CA430308945 | COL3A1 | c.588T>A (p.Ser196=)
| gnomAD v4 |
2 | g.188988595T>C | CA076730 | COL3A1 | c.588T>C (p.Ser196=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988595T>G | CA430308946 | COL3A1 | c.588T>G (p.Ser196=)
| |
2 | g.188988595T= | CA1315395797 | COL3A1 | c.588T= (p.Ser196=)
| |
2 | g.188988596C>A | CA349848321 | COL3A1 | c.589C>A (p.Pro197Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988596C= | CA1315395798 | COL3A1 | c.589C= (p.Pro197=)
| |
2 | g.188988596C>G | CA349848322 | COL3A1 | c.589C>G (p.Pro197Ala)
| |
2 | g.188988596C>T | CA349848323 | COL3A1 | c.589C>T (p.Pro197Ser)
| |
2 | g.188988597C>A | CA349848324 | COL3A1 | c.590C>A (p.Pro197Gln)
| ClinVar gnomAD v4 |
2 | g.188988597C>G | CA349848325 | COL3A1 | c.590C>G (p.Pro197Arg)
| gnomAD v4 |
2 | g.188988597C>T | CA349848326 | COL3A1 | c.590C>T (p.Pro197Leu)
| |
2 | g.188988598A= | CA1315395799 | COL3A1 | c.591A= (p.Pro197=)
| |
2 | g.188988598A>C | CA430308947 | COL3A1 | c.591A>C (p.Pro197=)
| |
2 | g.188988598A>G | CA430308948 | COL3A1 | c.591A>G (p.Pro197=)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988598A>T | CA430308949 | COL3A1 | c.591A>T (p.Pro197=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988599G>A | CA007105 | COL3A1 | c.592G>A (p.Gly198Arg)
| ClinVar dbSNP |
2 | g.188988599G>C | CA349848327 | COL3A1 | c.592G>C (p.Gly198Arg)
| |
2 | g.188988599G= | CA1315395800 | COL3A1 | c.592G= (p.Gly198=)
| |
2 | g.188988599G>T | CA349848328 | COL3A1 | c.592G>T (p.Gly198Ter)
| gnomAD v4 |
2 | g.188988600G>A | CA007113 | COL3A1 | c.593G>A (p.Gly198Glu)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988600G>C | CA349848329 | COL3A1 | c.593G>C (p.Gly198Ala)
| |
2 | g.188988600G= | CA1315395801 | COL3A1 | c.593G= (p.Gly198=)
| |
2 | g.188988600G>T | CA349848330 | COL3A1 | c.593G>T (p.Gly198Val)
| |
2 | g.188988601A>C | CA430308950 | COL3A1 | c.594A>C (p.Gly198=)
| |
2 | g.188988601A>G | CA430308951 | COL3A1 | c.594A>G (p.Gly198=)
| |
2 | g.188988601A>T | CA430308952 | COL3A1 | c.594A>T (p.Gly198=)
| |
2 | g.188988602T>A | CA349848331 | COL3A1 | c.595T>A (p.Tyr199Asn)
| |
2 | g.188988602T>C | CA349848333 | COL3A1 | c.595T>C (p.Tyr199His)
| |
2 | g.188988602T>G | CA349848332 | COL3A1 | c.595T>G (p.Tyr199Asp)
| |
2 | g.188988603A>C | CA349848334 | COL3A1 | c.596A>C (p.Tyr199Ser)
| |
2 | g.188988603A>G | CA349848335 | COL3A1 | c.596A>G (p.Tyr199Cys)
| |
2 | g.188988603A>T | CA349848336 | COL3A1 | c.596A>T (p.Tyr199Phe)
| |
2 | g.188988604C>A | CA349848337 | COL3A1 | c.597C>A (p.Tyr199Ter)
| |
2 | g.188988604C= | CA1315395802 | COL3A1 | c.597C= (p.Tyr199=)
| |
2 | g.188988604C>G | CA349848338 | COL3A1 | c.597C>G (p.Tyr199Ter)
| |
2 | g.188988604C>T | CA430308953 | COL3A1 | c.597C>T (p.Tyr199=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988605C>A | CA349848339 | COL3A1 | c.598C>A (p.Gln200Lys)
| ClinVar |
2 | g.188988605C>G | CA349848340 | COL3A1 | c.598C>G (p.Gln200Glu)
| gnomAD v4 |
2 | g.188988605C>T | CA349848341 | COL3A1 | c.598C>T (p.Gln200Ter)
| |
2 | g.188988606A= | CA1315395803 | COL3A1 | c.599A= (p.Gln200=)
| |
2 | g.188988606A>C | CA076733 | COL3A1 | c.599A>C (p.Gln200Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988606A>G | CA349848342 | COL3A1 | c.599A>G (p.Gln200Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988606A>T | CA349848343 | COL3A1 | c.599A>T (p.Gln200Leu)
| |
2 | g.188988607A>C | CA349848344 | COL3A1 | c.600A>C (p.Gln200His)
| |
2 | g.188988607A>G | CA430308954 | COL3A1 | c.600A>G (p.Gln200=)
| |
2 | g.188988607A>T | CA349848345 | COL3A1 | c.600A>T (p.Gln200His)
| |
2 | g.188988608G>A | CA349848346 | COL3A1 | c.601G>A (p.Gly201Arg)
| |
2 | g.188988608G>C | CA007121 | COL3A1 | c.601G>C (p.Gly201Arg)
| ClinVar dbSNP |
2 | g.188988608G= | CA1315395804 | COL3A1 | c.601G= (p.Gly201=)
| |
2 | g.188988608G>T | CA349848347 | COL3A1 | c.601G>T (p.Gly201Ter)
| ClinVar dbSNP |
2 | g.188988609G>A | CA349848348 | COL3A1 | c.602G>A (p.Gly201Glu)
| gnomAD v4 |
2 | g.188988609G>C | CA349848349 | COL3A1 | c.602G>C (p.Gly201Ala)
| |
2 | g.188988609G>T | CA349848350 | COL3A1 | c.602G>T (p.Gly201Val)
| |
2 | g.188988610A>C | CA430308955 | COL3A1 | c.603A>C (p.Gly201=)
| |
2 | g.188988610A>G | CA430308956 | COL3A1 | c.603A>G (p.Gly201=)
| |
2 | g.188988610A>T | CA430308957 | COL3A1 | c.603A>T (p.Gly201=)
| |
2 | g.188988610_188988611delinsAC | CA1315395805 | COL3A1 | c.603_604delinsAC (p.Gly201=)
| |
2 | g.188988611C>A | CA349848351 | COL3A1 | c.604C>A (p.Pro202Thr)
| COSMIC COSMIC |
2 | g.188988611C>G | CA349848352 | COL3A1 | c.604C>G (p.Pro202Ala)
| |
2 | g.188988611C>T | CA349848353 | COL3A1 | c.604C>T (p.Pro202Ser)
| gnomAD v4 |
2 | g.188988615dup | CA2832534156 | COL3A1 | c.608dup (p.Gly204TrpfsTer2)
| |
2 | g.188988615del | CA658657183 | COL3A1 | c.608del (p.Pro203LeufsTer19)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988612C>A | CA349848354 | COL3A1 | c.605C>A (p.Pro202His)
| gnomAD v4 |
2 | g.188988612C= | CA1315395806 | COL3A1 | c.605C= (p.Pro202=)
| |
2 | g.188988612C>G | CA349848355 | COL3A1 | c.605C>G (p.Pro202Arg)
| |
2 | g.188988612C>T | CA349848356 | COL3A1 | c.605C>T (p.Pro202Leu)
| ClinVar dbSNP |
2 | g.188988613C>A | CA430308958 | COL3A1 | c.606C>A (p.Pro202=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188988613C= | CA1315395807 | COL3A1 | c.606C= (p.Pro202=)
| |
2 | g.188988613C>G | CA430308959 | COL3A1 | c.606C>G (p.Pro202=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.188988613C>T | CA430308960 | COL3A1 | c.606C>T (p.Pro202=)
| |
2 | g.188988614C>A | CA349848359 | COL3A1 | c.607C>A (p.Pro203Thr)
| |
2 | g.188988614C= | CA1315395808 | COL3A1 | c.607C= (p.Pro203=)
| |
2 | g.188988614C>G | CA349848358 | COL3A1 | c.607C>G (p.Pro203Ala)
| ClinVar dbSNP |
2 | g.188988614C>T | CA349848357 | COL3A1 | c.607C>T (p.Pro203Ser)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.188988615C>A | CA349848360 | COL3A1 | c.608C>A (p.Pro203His)
| |
2 | g.188988615C>G | CA349848361 | COL3A1 | c.608C>G (p.Pro203Arg)
| |
2 | g.188988615C>T | CA349848362 | COL3A1 | c.608C>T (p.Pro203Leu)
| |
2 | g.188988616T>A | CA430308961 | COL3A1 | c.609T>A (p.Pro203=)
| |
2 | g.188988616T>C | CA076735 | COL3A1 | c.609T>C (p.Pro203=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988616T>G | CA430308962 | COL3A1 | c.609T>G (p.Pro203=)
| |
2 | g.188988616T= | CA1315395809 | COL3A1 | c.609T= (p.Pro203=)
| |
2 | g.188988617G>A | CA007131 | COL3A1 | c.610G>A (p.Gly204Ser)
| ClinVar dbSNP |
2 | g.188988617G>C | CA349848363 | COL3A1 | c.610G>C (p.Gly204Arg)
| |
2 | g.188988617G= | CA1315395810 | COL3A1 | c.610G= (p.Gly204=)
| |
2 | g.188988617G>T | CA349848364 | COL3A1 | c.610G>T (p.Gly204Cys)
| |
2 | g.188988618del | CA2662286497 | COL3A1 | c.611del (p.Gly204ValfsTer18)
| gnomAD v4 |
2 | g.188988618G>A | CA007139 | COL3A1 | c.611G>A (p.Gly204Asp)
| ClinVar dbSNP |
2 | g.188988618G>C | CA349848365 | COL3A1 | c.611G>C (p.Gly204Ala)
| |
2 | g.188988618G= | CA1315395811 | COL3A1 | c.611G= (p.Gly204=)
| |
2 | g.188988618G>T | CA349848366 | COL3A1 | c.611G>T (p.Gly204Val)
| |
2 | g.188988619T>A | CA430308963 | COL3A1 | c.612T>A (p.Gly204=)
| gnomAD v4 |
2 | g.188988619T>C | CA430308964 | COL3A1 | c.612T>C (p.Gly204=)
| |
2 | g.188988619T>G | CA430308965 | COL3A1 | c.612T>G (p.Gly204=)
| |
2 | g.188988620G>A | CA349848367 | COL3A1 | c.613G>A (p.Glu205Lys)
| |
2 | g.188988620G>C | CA349848368 | COL3A1 | c.613G>C (p.Glu205Gln)
| |
2 | g.188988620G>T | CA349848369 | COL3A1 | c.613G>T (p.Glu205Ter)
| |
2 | g.188988621A= | CA1315395812 | COL3A1 | c.614A= (p.Glu205=)
| |
2 | g.188988621A>C | CA076737 | COL3A1 | c.614A>C (p.Glu205Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188988621A>G | CA349848371 | COL3A1 | c.614A>G (p.Glu205Gly)
| |
2 | g.188988621A>T | CA349848370 | COL3A1 | c.614A>T (p.Glu205Val)
| |
2 | g.188988622A>C | CA349848373 | COL3A1 | c.615A>C (p.Glu205Asp)
| |
2 | g.188988622A>G | CA430308966 | COL3A1 | c.615A>G (p.Glu205=)
| |
2 | g.188988622A>T | CA349848372 | COL3A1 | c.615A>T (p.Glu205Asp)
| |
2 | g.188988622_188988636dup | CA286268 | COL3A1 | c.615_629dup (p.Gly210_Pro211insProGlyGlnAlaGly)
| ClinVar dbSNP |
2 | g.188988623C>A | CA349848374 | COL3A1 | c.616C>A (p.Pro206Thr)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988623C= | CA1315395813 | COL3A1 | c.616C= (p.Pro206=)
| |
2 | g.188988623C>G | CA349848376 | COL3A1 | c.616C>G (p.Pro206Ala)
| |
2 | g.188988623C>T | CA349848375 | COL3A1 | c.616C>T (p.Pro206Ser)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988624C>A | CA349848377 | COL3A1 | c.617C>A (p.Pro206His)
| dbSNP |
2 | g.188988624C= | CA1315395814 | COL3A1 | c.617C= (p.Pro206=)
| |
2 | g.188988624C>G | CA349848379 | COL3A1 | c.617C>G (p.Pro206Arg)
| ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
2 | g.188988624C>T | CA349848378 | COL3A1 | c.617C>T (p.Pro206Leu)
| |
2 | g.188988625T>A | CA430308967 | COL3A1 | c.618T>A (p.Pro206=)
| |
2 | g.188988625T>C | CA430308968 | COL3A1 | c.618T>C (p.Pro206=)
| gnomAD v4 |
2 | g.188988625T>G | CA430308969 | COL3A1 | c.618T>G (p.Pro206=)
| |
2 | g.188988626G>A | CA349848380 | COL3A1 | c.619G>A (p.Gly207Arg)
| ClinVar |
2 | g.188988626G>C | CA349848381 | COL3A1 | c.619G>C (p.Gly207Arg)
| |
2 | g.188988626G= | CA1315395815 | COL3A1 | c.619G= (p.Gly207=)
| |
2 | g.188988626G>T | CA349848382 | COL3A1 | c.619G>T (p.Gly207Trp)
| ClinVar dbSNP |
2 | g.188988627G>A | CA349848383 | COL3A1 | c.620G>A (p.Gly207Glu)
| COSMIC COSMIC |
2 | g.188988627G>C | CA349848384 | COL3A1 | c.620G>C (p.Gly207Ala)
| |
2 | g.188988627G= | CA1315395816 | COL3A1 | c.620G= (p.Gly207=)
| |
2 | g.188988627G>T | CA007150 | COL3A1 | c.620G>T (p.Gly207Val)
| ClinVar dbSNP |
2 | g.188988628G>A | CA076739 | COL3A1 | c.621G>A (p.Gly207=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988628G>C | CA430308971 | COL3A1 | c.621G>C (p.Gly207=)
| |
2 | g.188988628G= | CA1315395817 | COL3A1 | c.621G= (p.Gly207=)
| |
2 | g.188988628G>T | CA430308970 | COL3A1 | c.621G>T (p.Gly207=)
| |
2 | g.188988629C>A | CA076740 | COL3A1 | c.622C>A (p.Gln208Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988629C= | CA1315395818 | COL3A1 | c.622C= (p.Gln208=)
| |
2 | g.188988629C>G | CA349848385 | COL3A1 | c.622C>G (p.Gln208Glu)
| |
2 | g.188988629C>T | CA349848386 | COL3A1 | c.622C>T (p.Gln208Ter)
| ClinVar dbSNP |
2 | g.188988630A>C | CA349848389 | COL3A1 | c.623A>C (p.Gln208Pro)
| |
2 | g.188988630A>G | CA349848388 | COL3A1 | c.623A>G (p.Gln208Arg)
| |
2 | g.188988630A>T | CA349848387 | COL3A1 | c.623A>T (p.Gln208Leu)
| |
2 | g.188988631A= | CA1315395819 | COL3A1 | c.624A= (p.Gln208=)
| |
2 | g.188988631A>C | CA349848390 | COL3A1 | c.624A>C (p.Gln208His)
| |
2 | g.188988631A>G | CA076742 | COL3A1 | c.624A>G (p.Gln208=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988631A>T | CA349848391 | COL3A1 | c.624A>T (p.Gln208His)
| |
2 | g.188988632G>A | CA349848392 | COL3A1 | c.625G>A (p.Ala209Thr)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988632G>C | CA349848393 | COL3A1 | c.625G>C (p.Ala209Pro)
| |
2 | g.188988632G= | CA1315395820 | COL3A1 | c.625G= (p.Ala209=)
| |
2 | g.188988632G>T | CA349848394 | COL3A1 | c.625G>T (p.Ala209Ser)
| |
2 | g.188988633C>A | CA349848395 | COL3A1 | c.626C>A (p.Ala209Asp)
| |
2 | g.188988633C>G | CA349848396 | COL3A1 | c.626C>G (p.Ala209Gly)
| gnomAD v4 |
2 | g.188988633C>T | CA349848397 | COL3A1 | c.626C>T (p.Ala209Val)
| gnomAD v4 |
2 | g.188988634T>A | CA430308972 | COL3A1 | c.627T>A (p.Ala209=)
| ClinVar |
2 | g.188988634T>C | CA430308973 | COL3A1 | c.627T>C (p.Ala209=)
| dbSNP |
2 | g.188988634T>G | CA430308974 | COL3A1 | c.627T>G (p.Ala209=)
| |
2 | g.188988634T= | CA1315395821 | COL3A1 | c.627T= (p.Ala209=)
| |
2 | g.188988635G>A | CA349848398 | COL3A1 | c.628G>A (p.Gly210Ser)
| |
2 | g.188988635G>C | CA349848399 | COL3A1 | c.628G>C (p.Gly210Arg)
| |
2 | g.188988635G>T | CA349848400 | COL3A1 | c.628G>T (p.Gly210Cys)
| |
2 | g.188988636G>A | CA349848401 | COL3A1 | c.629G>A (p.Gly210Asp)
| |
2 | g.188988636G>C | CA349848402 | COL3A1 | c.629G>C (p.Gly210Ala)
| |
2 | g.188988636G= | CA1315395822 | COL3A1 | c.629G= (p.Gly210=)
| |
2 | g.188988636G>T | CA007157 | COL3A1 | c.629G>T (p.Gly210Val)
| ClinVar dbSNP |
2 | g.188988637T>A | CA430308975 | COL3A1 | c.630T>A (p.Gly210=)
| ClinVar dbSNP gnomAD v4 |
2 | g.188988637T>C | CA430308976 | COL3A1 | c.630T>C (p.Gly210=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988637T>G | CA430308977 | COL3A1 | c.630T>G (p.Gly210=)
| |
2 | g.188988637T= | CA1315395824 | COL3A1 | c.630T= (p.Gly210=)
| |
2 | g.188988637_188988649delinsTCCTTCAGTAAGT | CA1315395823 | COL3A1 | c.630_636+6delinsTCCTTCAGTAAGT
| |
2 | g.188988638C>A | CA349848403 | COL3A1 | c.631C>A (p.Pro211Thr)
| |
2 | g.188988638C>G | CA349848404 | COL3A1 | c.631C>G (p.Pro211Ala)
| |
2 | g.188988638C>T | CA349848405 | COL3A1 | c.631C>T (p.Pro211Ser)
| |
2 | g.188988638_188988649delinsTACTAAATATA | CA286411 | COL3A1 | c.631_636+6delinsTACTAAATATA
| ClinVar dbSNP |
2 | g.188988639C>A | CA349848406 | COL3A1 | c.632C>A (p.Pro211His)
| |
2 | g.188988639C>G | CA349848407 | COL3A1 | c.632C>G (p.Pro211Arg)
| |
2 | g.188988639C>T | CA349848408 | COL3A1 | c.632C>T (p.Pro211Leu)
| |
2 | g.188988640T>A | CA430308978 | COL3A1 | c.633T>A (p.Pro211=)
| |
2 | g.188988640T>C | CA430308979 | COL3A1 | c.633T>C (p.Pro211=)
| |
2 | g.188988640T>G | CA430308980 | COL3A1 | c.633T>G (p.Pro211=)
| |
2 | g.188988641del | CA2577185129 | COL3A1 | c.634del (p.Ser212GlnfsTer10)
| |
2 | g.188988641T>A | CA349848409 | COL3A1 | c.634T>A (p.Ser212Thr)
| |
2 | g.188988641T>C | CA349848410 | COL3A1 | c.634T>C (p.Ser212Pro)
| gnomAD v4 |
2 | g.188988641T>G | CA349848411 | COL3A1 | c.634T>G (p.Ser212Ala)
| |
2 | g.188988642C>A | CA349848412 | COL3A1 | c.635C>A (p.Ser212Ter)
| gnomAD v4 |
2 | g.188988642C= | CA1315395825 | COL3A1 | c.635C= (p.Ser212=)
| |
2 | g.188988642C>G | CA349848413 | COL3A1 | c.635C>G (p.Ser212Ter)
| |
2 | g.188988642C>T | CA349848414 | COL3A1 | c.635C>T (p.Ser212Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188988642_188988646delinsCAGTA | CA1315395826 | COL3A1 | c.635_636+3delinsCAGTA
| |
2 | g.188988643A>C | CA430308983 | COL3A1 | c.636A>C (p.Ser212=)
| |
2 | g.188988643A>G | CA430308981 | COL3A1 | c.636A>G (p.Ser212=)
| ClinVar |
2 | g.188988643A>T | CA430308982 | COL3A1 | c.636A>T (p.Ser212=)
| |
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=)
| |
2 | g.188988668del | CA2577185132 | COL3A1 | c.636+25del (n.636+25del)
| gnomAD v4 |
2 | g.188988668T>C | CA2662286509 | COL3A1 | c.636+25T>C (n.636+25T>C)
| gnomAD v4 |
2 | g.188988669A>G | CA2662286510 | COL3A1 | c.636+26A>G (n.636+26A>G)
| gnomAD v4 |
2 | g.188988670G>A | CA076746 | COL3A1 | c.636+27G>A (n.636+27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988670G= | CA1315395838 | COL3A1 | c.636+27G= (n.636+27G=)
| |
2 | g.188988671T>A | CA2577185133 | COL3A1 | c.636+28T>A (n.636+28T>A)
| |
2 | g.188988671T>C | CA076747 | COL3A1 | c.636+28T>C (n.636+28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988671T= | CA1315395839 | COL3A1 | c.636+28T= (n.636+28T=)
| |
2 | g.188988672A= | CA1315395840 | COL3A1 | c.636+29A= (n.636+29A=)
| |
2 | g.188988672A>G | CA076749 | COL3A1 | c.636+29A>G (n.636+29A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188988673del | CA2662286514 | COL3A1 | c.636+30del (n.636+30del)
| gnomAD v4 |
2 | g.188988673A>G | CA2662286516 | COL3A1 | c.636+30A>G (n.636+30A>G)
| gnomAD v4 |
2 | g.188988674G>A | CA2577185134 | COL3A1 | c.636+31G>A (n.636+31G>A)
| gnomAD v4 |
2 | g.188988674G>C | CA2577185135 | COL3A1 | c.636+31G>C (n.636+31G>C)
| |