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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189005611_189008365del | CA913190217 | COL3A1 | c.2940+154_3426+223del c.3039+154_3525+223del c.2528-2443_2616+223del | ClinVar |
| 2 | g.189007501_189007510del | CA645372374 | COL3A1 | c.3158_3167del c.3257_3266del c.2528-553_2528-544del (n.2528-553_2528-544del) | ClinVar |
| 2 | g.189007501G>A | CA349845531 | COL3A1 | c.3158G>A (p.Gly1053Asp) c.3257G>A (p.Gly1086Asp) c.2528-553G>A (n.2528-553G>A) | |
| 2 | g.189007501G>C | CA349845533 | COL3A1 | c.3158G>C (p.Gly1053Ala) c.3257G>C (p.Gly1086Ala) c.2528-553G>C (n.2528-553G>C) | |
| 2 | g.189007501G= | CA1315404793 | COL3A1 | c.3158G= (p.Gly1053=) c.3257G= (p.Gly1086=) c.2528-553G= (n.2528-553G=) | |
| 2 | g.189007501G>T | CA16610641 | COL3A1 | c.3158G>T (p.Gly1053Val) c.3257G>T (p.Gly1086Val) c.2528-553G>T (n.2528-553G>T) | ClinVar dbSNP |
| 2 | g.189007502T>A | CA430313222 | COL3A1 | c.3159T>A (p.Gly1053=) c.3258T>A (p.Gly1086=) c.2528-552T>A (n.2528-552T>A) | ClinVar dbSNP |
| 2 | g.189007502T>C | CA430313224 | COL3A1 | c.3159T>C (p.Gly1053=) c.3258T>C (p.Gly1086=) c.2528-552T>C (n.2528-552T>C) | |
| 2 | g.189007502T>G | CA430313225 | COL3A1 | c.3159T>G (p.Gly1053=) c.3258T>G (p.Gly1086=) c.2528-552T>G (n.2528-552T>G) | |
| 2 | g.189007502T= | CA1315404794 | COL3A1 | c.3159T= (p.Gly1053=) c.3258T= (p.Gly1086=) c.2528-552T= (n.2528-552T=) | |
| 2 | g.189007503C>A | CA349845536 | COL3A1 | c.3160C>A (p.Pro1054Thr) c.3259C>A (p.Pro1087Thr) c.2528-551C>A (n.2528-551C>A) | |
| 2 | g.189007503C= | CA1315404795 | COL3A1 | c.3160C= (p.Pro1054=) c.3259C= (p.Pro1087=) c.2528-551C= (n.2528-551C=) | |
| 2 | g.189007503C>G | CA349845537 | COL3A1 | c.3160C>G (p.Pro1054Ala) c.3259C>G (p.Pro1087Ala) c.2528-551C>G (n.2528-551C>G) | |
| 2 | g.189007503C>T | CA349845539 | COL3A1 | c.3160C>T (p.Pro1054Ser) c.3259C>T (p.Pro1087Ser) c.2528-551C>T (n.2528-551C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007504C>A | CA349845542 | COL3A1 | c.3161C>A (p.Pro1054His) c.3260C>A (p.Pro1087His) c.2528-550C>A (n.2528-550C>A) | |
| 2 | g.189007504C= | CA1315404796 | COL3A1 | c.3161C= (p.Pro1054=) c.3260C= (p.Pro1087=) c.2528-550C= (n.2528-550C=) | |
| 2 | g.189007504C>G | CA349845545 | COL3A1 | c.3161C>G (p.Pro1054Arg) c.3260C>G (p.Pro1087Arg) c.2528-550C>G (n.2528-550C>G) | |
| 2 | g.189007504C>T | CA62561308 | COL3A1 | c.3161C>T (p.Pro1054Leu) c.3260C>T (p.Pro1087Leu) c.2528-550C>T (n.2528-550C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007505T>A | CA430313228 | COL3A1 | c.3162T>A (p.Pro1054=) c.3261T>A (p.Pro1087=) c.2528-549T>A (n.2528-549T>A) | |
| 2 | g.189007505T>C | CA430313230 | COL3A1 | c.3162T>C (p.Pro1054=) c.3261T>C (p.Pro1087=) c.2528-549T>C (n.2528-549T>C) | dbSNP |
| 2 | g.189007505T>G | CA430313231 | COL3A1 | c.3162T>G (p.Pro1054=) c.3261T>G (p.Pro1087=) c.2528-549T>G (n.2528-549T>G) | |
| 2 | g.189007505T= | CA1315404797 | COL3A1 | c.3162T= (p.Pro1054=) c.3261T= (p.Pro1087=) c.2528-549T= (n.2528-549T=) | |
| 2 | g.189007506C>A | CA349845548 | COL3A1 | c.3163C>A (p.Gln1055Lys) c.3262C>A (p.Gln1088Lys) c.2528-548C>A (n.2528-548C>A) | |
| 2 | g.189007506C= | CA1315404798 | COL3A1 | c.3163C= (p.Gln1055=) c.3262C= (p.Gln1088=) c.2528-548C= (n.2528-548C=) | |
| 2 | g.189007506C>G | CA349845550 | COL3A1 | c.3163C>G (p.Gln1055Glu) c.3262C>G (p.Gln1088Glu) c.2528-548C>G (n.2528-548C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007506C>T | CA349845552 | COL3A1 | c.3163C>T (p.Gln1055Ter) c.3262C>T (p.Gln1088Ter) c.2528-548C>T (n.2528-548C>T) | ClinVar dbSNP |
| 2 | g.189007507A>C | CA349845554 | COL3A1 | c.3164A>C (p.Gln1055Pro) c.3263A>C (p.Gln1088Pro) c.2528-547A>C (n.2528-547A>C) | |
| 2 | g.189007507A>G | CA349845556 | COL3A1 | c.3164A>G (p.Gln1055Arg) c.3263A>G (p.Gln1088Arg) c.2528-547A>G (n.2528-547A>G) | |
| 2 | g.189007507A>T | CA349845557 | COL3A1 | c.3164A>T (p.Gln1055Leu) c.3263A>T (p.Gln1088Leu) c.2528-547A>T (n.2528-547A>T) | |
| 2 | g.189007508A>C | CA349845562 | COL3A1 | c.3165A>C (p.Gln1055His) c.3264A>C (p.Gln1088His) c.2528-546A>C (n.2528-546A>C) | |
| 2 | g.189007508A>G | CA430313234 | COL3A1 | c.3165A>G (p.Gln1055=) c.3264A>G (p.Gln1088=) c.2528-546A>G (n.2528-546A>G) | |
| 2 | g.189007508A>T | CA349845560 | COL3A1 | c.3165A>T (p.Gln1055His) c.3264A>T (p.Gln1088His) c.2528-546A>T (n.2528-546A>T) | |
| 2 | g.189007509G>A | CA349845564 | COL3A1 | c.3166G>A (p.Gly1056Ser) c.3265G>A (p.Gly1089Ser) c.2528-545G>A (n.2528-545G>A) | |
| 2 | g.189007509G>C | CA349845565 | COL3A1 | c.3166G>C (p.Gly1056Arg) c.3265G>C (p.Gly1089Arg) c.2528-545G>C (n.2528-545G>C) | |
| 2 | g.189007509G>T | CA349845567 | COL3A1 | c.3166G>T (p.Gly1056Cys) c.3265G>T (p.Gly1089Cys) c.2528-545G>T (n.2528-545G>T) | |
| 2 | g.189007510del | CA430313236 | COL3A1 | c.3167del (p.Gly1056AlafsTer?) c.3266del (p.Gly1089AlafsTer?) c.2528-544del (n.2528-544del) | COSMIC |
| 2 | g.189007510G>A | CA006250 | COL3A1 | c.3167G>A (p.Gly1056Asp) c.3266G>A (p.Gly1089Asp) c.2528-544G>A (n.2528-544G>A) | ClinVar dbSNP |
| 2 | g.189007510G>C | CA349845570 | COL3A1 | c.3167G>C (p.Gly1056Ala) c.3266G>C (p.Gly1089Ala) c.2528-544G>C (n.2528-544G>C) | |
| 2 | g.189007510G= | CA1315404799 | COL3A1 | c.3167G= (p.Gly1056=) c.3266G= (p.Gly1089=) c.2528-544G= (n.2528-544G=) | |
| 2 | g.189007510G>T | CA006260 | COL3A1 | c.3167G>T (p.Gly1056Val) c.3266G>T (p.Gly1089Val) c.2528-544G>T (n.2528-544G>T) | ClinVar dbSNP |
| 2 | g.189007511C>A | CA430313238 | COL3A1 | c.3168C>A (p.Gly1056=) c.3267C>A (p.Gly1089=) c.2528-543C>A (n.2528-543C>A) | |
| 2 | g.189007511C= | CA1315404800 | COL3A1 | c.3168C= (p.Gly1056=) c.3267C= (p.Gly1089=) c.2528-543C= (n.2528-543C=) | |
| 2 | g.189007511C>G | CA430313239 | COL3A1 | c.3168C>G (p.Gly1056=) c.3267C>G (p.Gly1089=) c.2528-543C>G (n.2528-543C>G) | |
| 2 | g.189007511C>T | CA430313241 | COL3A1 | c.3168C>T (p.Gly1056=) c.3267C>T (p.Gly1089=) c.2528-543C>T (n.2528-543C>T) | dbSNP COSMIC |
| 2 | g.189007512C>A | CA349845577 | COL3A1 | c.3169C>A (p.Pro1057Thr) c.3268C>A (p.Pro1090Thr) c.2528-542C>A (n.2528-542C>A) | |
| 2 | g.189007512C>G | CA349845575 | COL3A1 | c.3169C>G (p.Pro1057Ala) c.3268C>G (p.Pro1090Ala) c.2528-542C>G (n.2528-542C>G) | |
| 2 | g.189007512C>T | CA349845574 | COL3A1 | c.3169C>T (p.Pro1057Ser) c.3268C>T (p.Pro1090Ser) c.2528-542C>T (n.2528-542C>T) | |
| 2 | g.189007513C>A | CA349845580 | COL3A1 | c.3170C>A (p.Pro1057Gln) c.3269C>A (p.Pro1090Gln) c.2528-541C>A (n.2528-541C>A) | |
| 2 | g.189007513C>G | CA349845584 | COL3A1 | c.3170C>G (p.Pro1057Arg) c.3269C>G (p.Pro1090Arg) c.2528-541C>G (n.2528-541C>G) | |
| 2 | g.189007513C>T | CA349845582 | COL3A1 | c.3170C>T (p.Pro1057Leu) c.3269C>T (p.Pro1090Leu) c.2528-541C>T (n.2528-541C>T) | |
| 2 | g.189007514A>C | CA430313245 | COL3A1 | c.3171A>C (p.Pro1057=) c.3270A>C (p.Pro1090=) c.2528-540A>C (n.2528-540A>C) | gnomAD v4 COSMIC |
| 2 | g.189007514A>G | CA430313244 | COL3A1 | c.3171A>G (p.Pro1057=) c.3270A>G (p.Pro1090=) c.2528-540A>G (n.2528-540A>G) | |
| 2 | g.189007514A>T | CA430313243 | COL3A1 | c.3171A>T (p.Pro1057=) c.3270A>T (p.Pro1090=) c.2528-540A>T (n.2528-540A>T) | |
| 2 | g.189007515C>A | CA349845586 | COL3A1 | c.3172C>A (p.Arg1058Ser) c.3271C>A (p.Arg1091Ser) c.2528-539C>A (n.2528-539C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007515C= | CA1315404801 | COL3A1 | c.3172C= (p.Arg1058=) c.3271C= (p.Arg1091=) c.2528-539C= (n.2528-539C=) | |
| 2 | g.189007515C>G | CA349845589 | COL3A1 | c.3172C>G (p.Arg1058Gly) c.3271C>G (p.Arg1091Gly) c.2528-539C>G (n.2528-539C>G) | |
| 2 | g.189007515C>T | CA349845587 | COL3A1 | c.3172C>T (p.Arg1058Cys) c.3271C>T (p.Arg1091Cys) c.2528-539C>T (n.2528-539C>T) | |
| 2 | g.189007516G>A | CA075994 | COL3A1 | c.3173G>A (p.Arg1058His) c.3272G>A (p.Arg1091His) c.2528-538G>A (n.2528-538G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189007516G>C | CA349845595 | COL3A1 | c.3173G>C (p.Arg1058Pro) c.3272G>C (p.Arg1091Pro) c.2528-538G>C (n.2528-538G>C) | |
| 2 | g.189007516G= | CA1315404802 | COL3A1 | c.3173G= (p.Arg1058=) c.3272G= (p.Arg1091=) c.2528-538G= (n.2528-538G=) | |
| 2 | g.189007516G>T | CA349845592 | COL3A1 | c.3173G>T (p.Arg1058Leu) c.3272G>T (p.Arg1091Leu) c.2528-538G>T (n.2528-538G>T) | |
| 2 | g.189007517T>A | CA430313247 | COL3A1 | c.3174T>A (p.Arg1058=) c.3273T>A (p.Arg1091=) c.2528-537T>A (n.2528-537T>A) | dbSNP |
| 2 | g.189007517T>C | CA430313248 | COL3A1 | c.3174T>C (p.Arg1058=) c.3273T>C (p.Arg1091=) c.2528-537T>C (n.2528-537T>C) | gnomAD v4 |
| 2 | g.189007517T>G | CA430313249 | COL3A1 | c.3174T>G (p.Arg1058=) c.3273T>G (p.Arg1091=) c.2528-537T>G (n.2528-537T>G) | |
| 2 | g.189007517T= | CA1315404803 | COL3A1 | c.3174T= (p.Arg1058=) c.3273T= (p.Arg1091=) c.2528-537T= (n.2528-537T=) | |
| 2 | g.189007518G>A | CA349845598 | COL3A1 | c.3175G>A (p.Gly1059Ser) c.3274G>A (p.Gly1092Ser) c.2528-536G>A (n.2528-536G>A) | |
| 2 | g.189007518G>C | CA349845601 | COL3A1 | c.3175G>C (p.Gly1059Arg) c.3274G>C (p.Gly1092Arg) c.2528-536G>C (n.2528-536G>C) | |
| 2 | g.189007518G>T | CA349845600 | COL3A1 | c.3175G>T (p.Gly1059Cys) c.3274G>T (p.Gly1092Cys) c.2528-536G>T (n.2528-536G>T) | ClinVar dbSNP |
| 2 | g.189007519G>A | CA349845603 | COL3A1 | c.3176G>A (p.Gly1059Asp) c.3275G>A (p.Gly1092Asp) c.2528-535G>A (n.2528-535G>A) | |
| 2 | g.189007519G>C | CA349845606 | COL3A1 | c.3176G>C (p.Gly1059Ala) c.3275G>C (p.Gly1092Ala) c.2528-535G>C (n.2528-535G>C) | |
| 2 | g.189007519G= | CA1315404804 | COL3A1 | c.3176G= (p.Gly1059=) c.3275G= (p.Gly1092=) c.2528-535G= (n.2528-535G=) | |
| 2 | g.189007519G>T | CA006265 | COL3A1 | c.3176G>T (p.Gly1059Val) c.3275G>T (p.Gly1092Val) c.2528-535G>T (n.2528-535G>T) | ClinVar dbSNP |
| 2 | g.189007520T>A | CA430313251 | COL3A1 | c.3177T>A (p.Gly1059=) c.3276T>A (p.Gly1092=) c.2528-534T>A (n.2528-534T>A) | |
| 2 | g.189007520T>C | CA430313252 | COL3A1 | c.3177T>C (p.Gly1059=) c.3276T>C (p.Gly1092=) c.2528-534T>C (n.2528-534T>C) | ClinVar dbSNP |
| 2 | g.189007520T>G | CA430313253 | COL3A1 | c.3177T>G (p.Gly1059=) c.3276T>G (p.Gly1092=) c.2528-534T>G (n.2528-534T>G) | |
| 2 | g.189007521G>A | CA349845608 | COL3A1 | c.3178G>A (p.Asp1060Asn) c.3277G>A (p.Asp1093Asn) c.2528-533G>A (n.2528-533G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189007521G>C | CA349845610 | COL3A1 | c.3178G>C (p.Asp1060His) c.3277G>C (p.Asp1093His) c.2528-533G>C (n.2528-533G>C) | |
| 2 | g.189007521G>T | CA349845611 | COL3A1 | c.3178G>T (p.Asp1060Tyr) c.3277G>T (p.Asp1093Tyr) c.2528-533G>T (n.2528-533G>T) | COSMIC |
| 2 | g.189007522A>C | CA349845614 | COL3A1 | c.3179A>C (p.Asp1060Ala) c.3278A>C (p.Asp1093Ala) c.2528-532A>C (n.2528-532A>C) | |
| 2 | g.189007522A>G | CA349845616 | COL3A1 | c.3179A>G (p.Asp1060Gly) c.3278A>G (p.Asp1093Gly) c.2528-532A>G (n.2528-532A>G) | |
| 2 | g.189007522A>T | CA349845618 | COL3A1 | c.3179A>T (p.Asp1060Val) c.3278A>T (p.Asp1093Val) c.2528-532A>T (n.2528-532A>T) | |
| 2 | g.189007523C>A | CA349845621 | COL3A1 | c.3180C>A (p.Asp1060Glu) c.3279C>A (p.Asp1093Glu) c.2528-531C>A (n.2528-531C>A) | |
| 2 | g.189007523C>G | CA349845622 | COL3A1 | c.3180C>G (p.Asp1060Glu) c.3279C>G (p.Asp1093Glu) c.2528-531C>G (n.2528-531C>G) | |
| 2 | g.189007523C>T | CA430313254 | COL3A1 | c.3180C>T (p.Asp1060=) c.3279C>T (p.Asp1093=) c.2528-531C>T (n.2528-531C>T) | |
| 2 | g.189007523_189007527del | CA2662310859 | COL3A1 | c.3180_3184del (p.Asp1060GlufsTer2) c.3279_3283del (p.Asp1093GlufsTer2) c.2528-531_2528-527del (n.2528-531_2528-527del) | gnomAD v4 |
| 2 | g.189007524A>C | CA349845625 | COL3A1 | c.3181A>C (p.Lys1061Gln) c.3280A>C (p.Lys1094Gln) c.2528-530A>C (n.2528-530A>C) | |
| 2 | g.189007524A>G | CA349845627 | COL3A1 | c.3181A>G (p.Lys1061Glu) c.3280A>G (p.Lys1094Glu) c.2528-530A>G (n.2528-530A>G) | |
| 2 | g.189007524A>T | CA349845629 | COL3A1 | c.3181A>T (p.Lys1061Ter) c.3280A>T (p.Lys1094Ter) c.2528-530A>T (n.2528-530A>T) | |
| 2 | g.189007525A>C | CA349845631 | COL3A1 | c.3182A>C (p.Lys1061Thr) c.3281A>C (p.Lys1094Thr) c.2528-529A>C (n.2528-529A>C) | |
| 2 | g.189007525A>G | CA349845636 | COL3A1 | c.3182A>G (p.Lys1061Arg) c.3281A>G (p.Lys1094Arg) c.2528-529A>G (n.2528-529A>G) | ClinVar dbSNP |
| 2 | g.189007525A>T | CA349845633 | COL3A1 | c.3182A>T (p.Lys1061Ile) c.3281A>T (p.Lys1094Ile) c.2528-529A>T (n.2528-529A>T) | |
| 2 | g.189007526A>C | CA349845638 | COL3A1 | c.3183A>C (p.Lys1061Asn) c.3282A>C (p.Lys1094Asn) c.2528-528A>C (n.2528-528A>C) | |
| 2 | g.189007526A>G | CA430313259 | COL3A1 | c.3183A>G (p.Lys1061=) c.3282A>G (p.Lys1094=) c.2528-528A>G (n.2528-528A>G) | |
| 2 | g.189007526A>T | CA349845639 | COL3A1 | c.3183A>T (p.Lys1061Asn) c.3282A>T (p.Lys1094Asn) c.2528-528A>T (n.2528-528A>T) | |
| 2 | g.189007527G>A | CA349845642 | COL3A1 | c.3184G>A (p.Gly1062Ser) c.3283G>A (p.Gly1095Ser) c.2528-527G>A (n.2528-527G>A) | |
| 2 | g.189007527G>C | CA349845643 | COL3A1 | c.3184G>C (p.Gly1062Arg) c.3283G>C (p.Gly1095Arg) c.2528-527G>C (n.2528-527G>C) | |
| 2 | g.189007527G>T | CA349845644 | COL3A1 | c.3184G>T (p.Gly1062Cys) c.3283G>T (p.Gly1095Cys) c.2528-527G>T (n.2528-527G>T) | |
| 2 | g.189007527_189007528insAACTTTTAGATCCTGAACT | CA2507867924 | COL3A1 | c.3184_3185insAACTTTTAGATCCTGAACT (p.Gly1062GlufsTer8) c.3283_3284insAACTTTTAGATCCTGAACT (p.Gly1095GlufsTer8) c.2528-527_2528-526insAACTTTTAGATCCTGAACT (n.2528-527_2528-526insAACTTTTAGATCCTGAACT) | |
| 2 | g.189007528G>A | CA006271 | COL3A1 | c.3185G>A (p.Gly1062Asp) c.3284G>A (p.Gly1095Asp) c.2528-526G>A (n.2528-526G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.189007528G>C | CA349845647 | COL3A1 | c.3185G>C (p.Gly1062Ala) c.3284G>C (p.Gly1095Ala) c.2528-526G>C (n.2528-526G>C) | |
| 2 | g.189007528G= | CA1315404805 | COL3A1 | c.3185G= (p.Gly1062=) c.3284G= (p.Gly1095=) c.2528-526G= (n.2528-526G=) | |
| 2 | g.189007528G>T | CA349845648 | COL3A1 | c.3185G>T (p.Gly1062Val) c.3284G>T (p.Gly1095Val) c.2528-526G>T (n.2528-526G>T) | ClinVar dbSNP |
| 2 | g.189007529T>A | CA430313261 | COL3A1 | c.3186T>A (p.Gly1062=) c.3285T>A (p.Gly1095=) c.2528-525T>A (n.2528-525T>A) | dbSNP |
| 2 | g.189007529T>C | CA430313263 | COL3A1 | c.3186T>C (p.Gly1062=) c.3285T>C (p.Gly1095=) c.2528-525T>C (n.2528-525T>C) | |
| 2 | g.189007529T>G | CA430313264 | COL3A1 | c.3186T>G (p.Gly1062=) c.3285T>G (p.Gly1095=) c.2528-525T>G (n.2528-525T>G) | |
| 2 | g.189007530G>A | CA349845653 | COL3A1 | c.3187G>A (p.Glu1063Lys) c.3286G>A (p.Glu1096Lys) c.2528-524G>A (n.2528-524G>A) | |
| 2 | g.189007530G>C | CA349845655 | COL3A1 | c.3187G>C (p.Glu1063Gln) c.3286G>C (p.Glu1096Gln) c.2528-524G>C (n.2528-524G>C) | |
| 2 | g.189007530G>T | CA349845652 | COL3A1 | c.3187G>T (p.Glu1063Ter) c.3286G>T (p.Glu1096Ter) c.2528-524G>T (n.2528-524G>T) | |
| 2 | g.189007531A>C | CA349845658 | COL3A1 | c.3188A>C (p.Glu1063Ala) c.3287A>C (p.Glu1096Ala) c.2528-523A>C (n.2528-523A>C) | |
| 2 | g.189007531A>G | CA349845660 | COL3A1 | c.3188A>G (p.Glu1063Gly) c.3287A>G (p.Glu1096Gly) c.2528-523A>G (n.2528-523A>G) | |
| 2 | g.189007531A>T | CA349845662 | COL3A1 | c.3188A>T (p.Glu1063Val) c.3287A>T (p.Glu1096Val) c.2528-523A>T (n.2528-523A>T) | gnomAD v4 |
| 2 | g.189007533del | CA645514678 | COL3A1 | c.3190del (p.Thr1064GlnfsTer?) c.3289del (p.Thr1097GlnfsTer?) c.2528-521del (n.2528-521del) | COSMIC |
| 2 | g.189007532A= | CA1315404806 | COL3A1 | c.3189A= (p.Glu1063=) c.3288A= (p.Glu1096=) c.2528-522A= (n.2528-522A=) | |
| 2 | g.189007532A>C | CA349845665 | COL3A1 | c.3189A>C (p.Glu1063Asp) c.3288A>C (p.Glu1096Asp) c.2528-522A>C (n.2528-522A>C) | |
| 2 | g.189007532A>G | CA075996 | COL3A1 | c.3189A>G (p.Glu1063=) c.3288A>G (p.Glu1096=) c.2528-522A>G (n.2528-522A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189007532A>T | CA349845668 | COL3A1 | c.3189A>T (p.Glu1063Asp) c.3288A>T (p.Glu1096Asp) c.2528-522A>T (n.2528-522A>T) | |
| 2 | g.189007533A= | CA1315404807 | COL3A1 | c.3190A= (p.Thr1064=) c.3289A= (p.Thr1097=) c.2528-521A= (n.2528-521A=) | |
| 2 | g.189007533A>C | CA349845671 | COL3A1 | c.3190A>C (p.Thr1064Pro) c.3289A>C (p.Thr1097Pro) c.2528-521A>C (n.2528-521A>C) | dbSNP |
| 2 | g.189007533A>G | CA349845673 | COL3A1 | c.3190A>G (p.Thr1064Ala) c.3289A>G (p.Thr1097Ala) c.2528-521A>G (n.2528-521A>G) | |
| 2 | g.189007533A>T | CA349845674 | COL3A1 | c.3190A>T (p.Thr1064Ser) c.3289A>T (p.Thr1097Ser) c.2528-521A>T (n.2528-521A>T) | |
| 2 | g.189007534_189007535del | CA2573134202 | COL3A1 | c.3191_3192del (p.Thr1064ArgfsTer2) c.3290_3291del (p.Thr1097ArgfsTer2) c.2528-520_2528-519del (n.2528-520_2528-519del) | ClinVar dbSNP |
| 2 | g.189007534C>A | CA349845677 | COL3A1 | c.3191C>A (p.Thr1064Lys) c.3290C>A (p.Thr1097Lys) c.2528-520C>A (n.2528-520C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007534C= | CA1315404808 | COL3A1 | c.3191C= (p.Thr1064=) c.3290C= (p.Thr1097=) c.2528-520C= (n.2528-520C=) | |
| 2 | g.189007534C>G | CA349845679 | COL3A1 | c.3191C>G (p.Thr1064Arg) c.3290C>G (p.Thr1097Arg) c.2528-520C>G (n.2528-520C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007534C>T | CA349845680 | COL3A1 | c.3191C>T (p.Thr1064Ile) c.3290C>T (p.Thr1097Ile) c.2528-520C>T (n.2528-520C>T) | |
| 2 | g.189007535A= | CA1315404809 | COL3A1 | c.3192A= (p.Thr1064=) c.3291A= (p.Thr1097=) c.2528-519A= (n.2528-519A=) | |
| 2 | g.189007535A>C | CA430313272 | COL3A1 | c.3192A>C (p.Thr1064=) c.3291A>C (p.Thr1097=) c.2528-519A>C (n.2528-519A>C) | dbSNP |
| 2 | g.189007535A>G | CA430313271 | COL3A1 | c.3192A>G (p.Thr1064=) c.3291A>G (p.Thr1097=) c.2528-519A>G (n.2528-519A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007535A>T | CA430313269 | COL3A1 | c.3192A>T (p.Thr1064=) c.3291A>T (p.Thr1097=) c.2528-519A>T (n.2528-519A>T) | dbSNP |
| 2 | g.189007536G>A | CA349845682 | COL3A1 | c.3193G>A (p.Gly1065Ser) c.3292G>A (p.Gly1098Ser) c.2528-518G>A (n.2528-518G>A) | |
| 2 | g.189007536G>C | CA349845685 | COL3A1 | c.3193G>C (p.Gly1065Arg) c.3292G>C (p.Gly1098Arg) c.2528-518G>C (n.2528-518G>C) | ClinVar dbSNP |
| 2 | g.189007536G>T | CA349845684 | COL3A1 | c.3193G>T (p.Gly1065Cys) c.3292G>T (p.Gly1098Cys) c.2528-518G>T (n.2528-518G>T) | |
| 2 | g.189007536_189007542delinsGGTGAAC | CA1315404810 | COL3A1 | c.3193_3199delinsGGTGAAC (p.Gly1065=) c.3292_3298delinsGGTGAAC (p.Gly1098=) c.2528-518_2528-512delinsGGTGAAC (n.2528-518_2528-512delinsGGTGAAC) | |
| 2 | g.189007537G>A | CA349845688 | COL3A1 | c.3194G>A (p.Gly1065Asp) c.3293G>A (p.Gly1098Asp) c.2528-517G>A (n.2528-517G>A) | |
| 2 | g.189007537G>C | CA349845690 | COL3A1 | c.3194G>C (p.Gly1065Ala) c.3293G>C (p.Gly1098Ala) c.2528-517G>C (n.2528-517G>C) | |
| 2 | g.189007537G= | CA1315404811 | COL3A1 | c.3194G= (p.Gly1065=) c.3293G= (p.Gly1098=) c.2528-517G= (n.2528-517G=) | |
| 2 | g.189007537G>T | CA006278 | COL3A1 | c.3194G>T (p.Gly1065Val) c.3293G>T (p.Gly1098Val) c.2528-517G>T (n.2528-517G>T) | ClinVar dbSNP |
| 2 | g.189007540_189007545del | CA1315404812 | COL3A1 | c.3197_3202del (p.Glu1066_Arg1067del) c.3296_3301del (p.Glu1099_Arg1100del) c.2528-514_2528-509del (n.2528-514_2528-509del) | dbSNP |
| 2 | g.189007538T>A | CA430313276 | COL3A1 | c.3195T>A (p.Gly1065=) c.3294T>A (p.Gly1098=) c.2528-516T>A (n.2528-516T>A) | |
| 2 | g.189007538T>C | CA430313275 | COL3A1 | c.3195T>C (p.Gly1065=) c.3294T>C (p.Gly1098=) c.2528-516T>C (n.2528-516T>C) | |
| 2 | g.189007538T>G | CA430313273 | COL3A1 | c.3195T>G (p.Gly1065=) c.3294T>G (p.Gly1098=) c.2528-516T>G (n.2528-516T>G) | |
| 2 | g.189007539G>A | CA349845694 | COL3A1 | c.3196G>A (p.Glu1066Lys) c.3295G>A (p.Glu1099Lys) c.2528-515G>A (n.2528-515G>A) | |
| 2 | g.189007539G>C | CA349845696 | COL3A1 | c.3196G>C (p.Glu1066Gln) c.3295G>C (p.Glu1099Gln) c.2528-515G>C (n.2528-515G>C) | |
| 2 | g.189007539G>T | CA349845698 | COL3A1 | c.3196G>T (p.Glu1066Ter) c.3295G>T (p.Glu1099Ter) c.2528-515G>T (n.2528-515G>T) | |
| 2 | g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAA | CA2560642434 | COL3A1 | c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAA (p.Glu1066GlyfsTer?) c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA (p.Glu1099GlyfsTer?) c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAA (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAA) | |
| 2 | g.189007539_189007540insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA | CA2573332964 | COL3A1 | c.3196_3197insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA (p.Glu1066GlyfsTer23) c.3295_3296insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA (p.Glu1099GlyfsTer23) c.2528-515_2528-514insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA (n.2528-515_2528-514insGAGTAGAAGGTTTTGAAGCAAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATATGGTAAAAGAGCAATATATTTTTAGCTACGTCTA) | |
| 2 | g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT | CA2504360392 | COL3A1 | c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT (p.Glu1066GlyfsTer23) c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT (p.Glu1099GlyfsTer23) c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTAT) | |
| 2 | g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT | CA2535455506 | COL3A1 | c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT (p.Glu1066GlyfsTer23) c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT (p.Glu1099GlyfsTer23) c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGAGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTTTATATGGTAAAAGGACAATATATTTTTAGCCACGTCTAAACTTATATTGTATAT) | |
| 2 | g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT | CA538449073 | COL3A1 | c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (p.Glu1066GlyfsTer23) c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (p.Glu1099GlyfsTer23) c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATAT) | gnomAD v2 |
| 2 | g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT | CA2528714016 | COL3A1 | c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT (p.Glu1066GlyfsTer23) c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT (p.Glu1099GlyfsTer23) c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT (n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT) | |
| 2 | g.189007540A>C | CA349845701 | COL3A1 | c.3197A>C (p.Glu1066Ala) c.3296A>C (p.Glu1099Ala) c.2528-514A>C (n.2528-514A>C) | |
| 2 | g.189007540A>G | CA349845703 | COL3A1 | c.3197A>G (p.Glu1066Gly) c.3296A>G (p.Glu1099Gly) c.2528-514A>G (n.2528-514A>G) | gnomAD v4 |
| 2 | g.189007540A>T | CA349845704 | COL3A1 | c.3197A>T (p.Glu1066Val) c.3296A>T (p.Glu1099Val) c.2528-514A>T (n.2528-514A>T) | |
| 2 | g.189007541A>C | CA349845707 | COL3A1 | c.3198A>C (p.Glu1066Asp) c.3297A>C (p.Glu1099Asp) c.2528-513A>C (n.2528-513A>C) | |
| 2 | g.189007541A>G | CA430313277 | COL3A1 | c.3198A>G (p.Glu1066=) c.3297A>G (p.Glu1099=) c.2528-513A>G (n.2528-513A>G) | |
| 2 | g.189007541A>T | CA349845708 | COL3A1 | c.3198A>T (p.Glu1066Asp) c.3297A>T (p.Glu1099Asp) c.2528-513A>T (n.2528-513A>T) | |
| 2 | g.189007542C>A | CA349845711 | COL3A1 | c.3199C>A (p.Arg1067Ser) c.3298C>A (p.Arg1100Ser) c.2528-512C>A (n.2528-512C>A) | |
| 2 | g.189007542C= | CA1315404813 | COL3A1 | c.3199C= (p.Arg1067=) c.3298C= (p.Arg1100=) c.2528-512C= (n.2528-512C=) | |
| 2 | g.189007542C>G | CA349845713 | COL3A1 | c.3199C>G (p.Arg1067Gly) c.3298C>G (p.Arg1100Gly) c.2528-512C>G (n.2528-512C>G) | gnomAD v4 |
| 2 | g.189007542C>T | CA075998 | COL3A1 | c.3199C>T (p.Arg1067Cys) c.3298C>T (p.Arg1100Cys) c.2528-512C>T (n.2528-512C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189007543G>A | CA076000 | COL3A1 | c.3200G>A (p.Arg1067His) c.3299G>A (p.Arg1100His) c.2528-511G>A (n.2528-511G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007543G>C | CA349845714 | COL3A1 | c.3200G>C (p.Arg1067Pro) c.3299G>C (p.Arg1100Pro) c.2528-511G>C (n.2528-511G>C) | |
| 2 | g.189007543G= | CA1315404814 | COL3A1 | c.3200G= (p.Arg1067=) c.3299G= (p.Arg1100=) c.2528-511G= (n.2528-511G=) | |
| 2 | g.189007543G>T | CA349845716 | COL3A1 | c.3200G>T (p.Arg1067Leu) c.3299G>T (p.Arg1100Leu) c.2528-511G>T (n.2528-511G>T) | COSMIC |
| 2 | g.189007543_189007544insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT | CA2530229997 | COL3A1 | c.3200_3201insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT (p.Gly1068MetfsTer27) c.3299_3300insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT (p.Gly1101MetfsTer27) c.2528-511_2528-510insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT (n.2528-511_2528-510insAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGTTACGTCTAAACTTATATTGTATATAACT) | |
| 2 | g.189007544T>A | CA430313279 | COL3A1 | c.3201T>A (p.Arg1067=) c.3300T>A (p.Arg1100=) c.2528-510T>A (n.2528-510T>A) | |
| 2 | g.189007544T>C | CA430313280 | COL3A1 | c.3201T>C (p.Arg1067=) c.3300T>C (p.Arg1100=) c.2528-510T>C (n.2528-510T>C) | gnomAD v4 |
| 2 | g.189007544T>G | CA430313281 | COL3A1 | c.3201T>G (p.Arg1067=) c.3300T>G (p.Arg1100=) c.2528-510T>G (n.2528-510T>G) | |
| 2 | g.189007545G>A | CA006284 | COL3A1 | c.3202G>A (p.Gly1068Arg) c.3301G>A (p.Gly1101Arg) c.2528-509G>A (n.2528-509G>A) | ClinVar dbSNP |
| 2 | g.189007545G>C | CA349845720 | COL3A1 | c.3202G>C (p.Gly1068Arg) c.3301G>C (p.Gly1101Arg) c.2528-509G>C (n.2528-509G>C) | |
| 2 | g.189007545G= | CA1315404815 | COL3A1 | c.3202G= (p.Gly1068=) c.3301G= (p.Gly1101=) c.2528-509G= (n.2528-509G=) | |
| 2 | g.189007545G>T | CA349845722 | COL3A1 | c.3202G>T (p.Gly1068Ter) c.3301G>T (p.Gly1101Ter) c.2528-509G>T (n.2528-509G>T) | |
| 2 | g.189007546G>A | CA006290 | COL3A1 | c.3203G>A (p.Gly1068Glu) c.3302G>A (p.Gly1101Glu) c.2528-508G>A (n.2528-508G>A) | ClinVar dbSNP |
| 2 | g.189007546G>C | CA349845727 | COL3A1 | c.3203G>C (p.Gly1068Ala) c.3302G>C (p.Gly1101Ala) c.2528-508G>C (n.2528-508G>C) | COSMIC |
| 2 | g.189007546G= | CA1315404816 | COL3A1 | c.3203G= (p.Gly1068=) c.3302G= (p.Gly1101=) c.2528-508G= (n.2528-508G=) | |
| 2 | g.189007546G>T | CA349845724 | COL3A1 | c.3203G>T (p.Gly1068Val) c.3302G>T (p.Gly1101Val) c.2528-508G>T (n.2528-508G>T) | |
| 2 | g.189007547A= | CA1315404817 | COL3A1 | c.3204A= (p.Gly1068=) c.3303A= (p.Gly1101=) c.2528-507A= (n.2528-507A=) | |
| 2 | g.189007547A>C | CA430313282 | COL3A1 | c.3204A>C (p.Gly1068=) c.3303A>C (p.Gly1101=) c.2528-507A>C (n.2528-507A>C) | dbSNP |
| 2 | g.189007547A>G | CA430313284 | COL3A1 | c.3204A>G (p.Gly1068=) c.3303A>G (p.Gly1101=) c.2528-507A>G (n.2528-507A>G) | |
| 2 | g.189007547A>T | CA430313285 | COL3A1 | c.3204A>T (p.Gly1068=) c.3303A>T (p.Gly1101=) c.2528-507A>T (n.2528-507A>T) | |
| 2 | g.189007548G>A | CA349845730 | COL3A1 | c.3205G>A (p.Ala1069Thr) c.3304G>A (p.Ala1102Thr) c.2528-506G>A (n.2528-506G>A) | |
| 2 | g.189007548G>C | CA349845731 | COL3A1 | c.3205G>C (p.Ala1069Pro) c.3304G>C (p.Ala1102Pro) c.2528-506G>C (n.2528-506G>C) | |
| 2 | g.189007548G= | CA1315404818 | COL3A1 | c.3205G= (p.Ala1069=) c.3304G= (p.Ala1102=) c.2528-506G= (n.2528-506G=) | |
| 2 | g.189007548G>T | CA349845733 | COL3A1 | c.3205G>T (p.Ala1069Ser) c.3304G>T (p.Ala1102Ser) c.2528-506G>T (n.2528-506G>T) | dbSNP |
| 2 | g.189007548_189007567delinsGCTGCTGGCATCAAAGGACA | CA1315404819 | COL3A1 | c.3205_3224delinsGCTGCTGGCATCAAAGGACA (p.Ala1069=) c.3304_3323delinsGCTGCTGGCATCAAAGGACA (p.Ala1102=) c.2528-506_2528-487delinsGCTGCTGGCATCAAAGGACA (n.2528-506_2528-487delinsGCTGCTGGCATCAAAGGACA) | |
| 2 | g.189007549C>A | CA349845734 | COL3A1 | c.3206C>A (p.Ala1069Asp) c.3305C>A (p.Ala1102Asp) c.2528-505C>A (n.2528-505C>A) | |
| 2 | g.189007549C>G | CA349845736 | COL3A1 | c.3206C>G (p.Ala1069Gly) c.3305C>G (p.Ala1102Gly) c.2528-505C>G (n.2528-505C>G) | |
| 2 | g.189007549C>T | CA349845738 | COL3A1 | c.3206C>T (p.Ala1069Val) c.3305C>T (p.Ala1102Val) c.2528-505C>T (n.2528-505C>T) | |
| 2 | g.189007549_189007567del | CA1315404820 | COL3A1 | c.3206_3224del (p.Ala1069ValfsTer?) c.3305_3323del (p.Ala1102ValfsTer?) c.2528-505_2528-487del (n.2528-505_2528-487del) | dbSNP |
| 2 | g.189007550T>A | CA430313288 | COL3A1 | c.3207T>A (p.Ala1069=) c.3306T>A (p.Ala1102=) c.2528-504T>A (n.2528-504T>A) | |
| 2 | g.189007550T>C | CA430313290 | COL3A1 | c.3207T>C (p.Ala1069=) c.3306T>C (p.Ala1102=) c.2528-504T>C (n.2528-504T>C) | |
| 2 | g.189007550T>G | CA430313291 | COL3A1 | c.3207T>G (p.Ala1069=) c.3306T>G (p.Ala1102=) c.2528-504T>G (n.2528-504T>G) | |
| 2 | g.189007551G>A | CA349845740 | COL3A1 | c.3208G>A (p.Ala1070Thr) c.3307G>A (p.Ala1103Thr) c.2528-503G>A (n.2528-503G>A) | dbSNP gnomAD v4 |
| 2 | g.189007551G>C | CA006296 | COL3A1 | c.3208G>C (p.Ala1070Pro) c.3307G>C (p.Ala1103Pro) c.2528-503G>C (n.2528-503G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007551G= | CA1315404821 | COL3A1 | c.3208G= (p.Ala1070=) c.3307G= (p.Ala1103=) c.2528-503G= (n.2528-503G=) | |
| 2 | g.189007551G>T | CA349845742 | COL3A1 | c.3208G>T (p.Ala1070Ser) c.3307G>T (p.Ala1103Ser) c.2528-503G>T (n.2528-503G>T) | |
| 2 | g.189007552C>A | CA349845745 | COL3A1 | c.3209C>A (p.Ala1070Asp) c.3308C>A (p.Ala1103Asp) c.2528-502C>A (n.2528-502C>A) | |
| 2 | g.189007552C>G | CA349845747 | COL3A1 | c.3209C>G (p.Ala1070Gly) c.3308C>G (p.Ala1103Gly) c.2528-502C>G (n.2528-502C>G) | |
| 2 | g.189007552C>T | CA349845748 | COL3A1 | c.3209C>T (p.Ala1070Val) c.3308C>T (p.Ala1103Val) c.2528-502C>T (n.2528-502C>T) | |
| 2 | g.189007553T>A | CA430313294 | COL3A1 | c.3210T>A (p.Ala1070=) c.3309T>A (p.Ala1103=) c.2528-501T>A (n.2528-501T>A) | |
| 2 | g.189007553T>C | CA430313296 | COL3A1 | c.3210T>C (p.Ala1070=) c.3309T>C (p.Ala1103=) c.2528-501T>C (n.2528-501T>C) | |
| 2 | g.189007553T>G | CA430313297 | COL3A1 | c.3210T>G (p.Ala1070=) c.3309T>G (p.Ala1103=) c.2528-501T>G (n.2528-501T>G) | ClinVar dbSNP |
| 2 | g.189007553T= | CA1315404822 | COL3A1 | c.3210T= (p.Ala1070=) c.3309T= (p.Ala1103=) c.2528-501T= (n.2528-501T=) | |
| 2 | g.189007554G>A | CA349845750 | COL3A1 | c.3211G>A (p.Gly1071Ser) c.3310G>A (p.Gly1104Ser) c.2528-500G>A (n.2528-500G>A) | |
| 2 | g.189007554G>C | CA349845752 | COL3A1 | c.3211G>C (p.Gly1071Arg) c.3310G>C (p.Gly1104Arg) c.2528-500G>C (n.2528-500G>C) | |
| 2 | g.189007554G>T | CA349845753 | COL3A1 | c.3211G>T (p.Gly1071Cys) c.3310G>T (p.Gly1104Cys) c.2528-500G>T (n.2528-500G>T) | |
| 2 | g.189007555G>A | CA349845754 | COL3A1 | c.3212G>A (p.Gly1071Asp) c.3311G>A (p.Gly1104Asp) c.2528-499G>A (n.2528-499G>A) | |
| 2 | g.189007555G>C | CA349845755 | COL3A1 | c.3212G>C (p.Gly1071Ala) c.3311G>C (p.Gly1104Ala) c.2528-499G>C (n.2528-499G>C) | gnomAD v4 |
| 2 | g.189007555G>T | CA349845756 | COL3A1 | c.3212G>T (p.Gly1071Val) c.3311G>T (p.Gly1104Val) c.2528-499G>T (n.2528-499G>T) | |
| 2 | g.189007556C>A | CA430313301 | COL3A1 | c.3213C>A (p.Gly1071=) c.3312C>A (p.Gly1104=) c.2528-498C>A (n.2528-498C>A) | |
| 2 | g.189007556C= | CA1315404823 | COL3A1 | c.3213C= (p.Gly1071=) c.3312C= (p.Gly1104=) c.2528-498C= (n.2528-498C=) | |
| 2 | g.189007556C>G | CA076002 | COL3A1 | c.3213C>G (p.Gly1071=) c.3312C>G (p.Gly1104=) c.2528-498C>G (n.2528-498C>G) | dbSNP ExAC |
| 2 | g.189007556C>T | CA430313299 | COL3A1 | c.3213C>T (p.Gly1071=) c.3312C>T (p.Gly1104=) c.2528-498C>T (n.2528-498C>T) | ClinVar dbSNP |
| 2 | g.189007557A>C | CA349845759 | COL3A1 | c.3214A>C (p.Ile1072Leu) c.3313A>C (p.Ile1105Leu) c.2528-497A>C (n.2528-497A>C) | gnomAD v4 |
| 2 | g.189007557A>G | CA349845758 | COL3A1 | c.3214A>G (p.Ile1072Val) c.3313A>G (p.Ile1105Val) c.2528-497A>G (n.2528-497A>G) | ClinVar |
| 2 | g.189007557A>T | CA349845757 | COL3A1 | c.3214A>T (p.Ile1072Phe) c.3313A>T (p.Ile1105Phe) c.2528-497A>T (n.2528-497A>T) | |
| 2 | g.189007558T>A | CA349845762 | COL3A1 | c.3215T>A (p.Ile1072Asn) c.3314T>A (p.Ile1105Asn) c.2528-496T>A (n.2528-496T>A) | |
| 2 | g.189007558T>C | CA349845764 | COL3A1 | c.3215T>C (p.Ile1072Thr) c.3314T>C (p.Ile1105Thr) c.2528-496T>C (n.2528-496T>C) | |
| 2 | g.189007558T>G | CA349845766 | COL3A1 | c.3215T>G (p.Ile1072Ser) c.3314T>G (p.Ile1105Ser) c.2528-496T>G (n.2528-496T>G) | ClinVar dbSNP |
| 2 | g.189007558T= | CA1315404824 | COL3A1 | c.3215T= (p.Ile1072=) c.3314T= (p.Ile1105=) c.2528-496T= (n.2528-496T=) | |
| 2 | g.189007559C>A | CA430313305 | COL3A1 | c.3216C>A (p.Ile1072=) c.3315C>A (p.Ile1105=) c.2528-495C>A (n.2528-495C>A) | |
| 2 | g.189007559C>G | CA349845769 | COL3A1 | c.3216C>G (p.Ile1072Met) c.3315C>G (p.Ile1105Met) c.2528-495C>G (n.2528-495C>G) | |
| 2 | g.189007559C>T | CA430313304 | COL3A1 | c.3216C>T (p.Ile1072=) c.3315C>T (p.Ile1105=) c.2528-495C>T (n.2528-495C>T) | COSMIC |
| 2 | g.189007560A>C | CA349845771 | COL3A1 | c.3217A>C (p.Lys1073Gln) c.3316A>C (p.Lys1106Gln) c.2528-494A>C (n.2528-494A>C) | |
| 2 | g.189007560A>G | CA349845773 | COL3A1 | c.3217A>G (p.Lys1073Glu) c.3316A>G (p.Lys1106Glu) c.2528-494A>G (n.2528-494A>G) | |
| 2 | g.189007560A>T | CA349845776 | COL3A1 | c.3217A>T (p.Lys1073Ter) c.3316A>T (p.Lys1106Ter) c.2528-494A>T (n.2528-494A>T) | |
| 2 | g.189007561A= | CA1315404825 | COL3A1 | c.3218A= (p.Lys1073=) c.3317A= (p.Lys1106=) c.2528-493A= (n.2528-493A=) | |
| 2 | g.189007561A>C | CA349845777 | COL3A1 | c.3218A>C (p.Lys1073Thr) c.3317A>C (p.Lys1106Thr) c.2528-493A>C (n.2528-493A>C) | gnomAD v4 |
| 2 | g.189007561A>G | CA349845779 | COL3A1 | c.3218A>G (p.Lys1073Arg) c.3317A>G (p.Lys1106Arg) c.2528-493A>G (n.2528-493A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007561A>T | CA349845780 | COL3A1 | c.3218A>T (p.Lys1073Ile) c.3317A>T (p.Lys1106Ile) c.2528-493A>T (n.2528-493A>T) | |
| 2 | g.189007562A>C | CA349845783 | COL3A1 | c.3219A>C (p.Lys1073Asn) c.3318A>C (p.Lys1106Asn) c.2528-492A>C (n.2528-492A>C) | |
| 2 | g.189007562A>G | CA430313307 | COL3A1 | c.3219A>G (p.Lys1073=) c.3318A>G (p.Lys1106=) c.2528-492A>G (n.2528-492A>G) | |
| 2 | g.189007562A>T | CA349845785 | COL3A1 | c.3219A>T (p.Lys1073Asn) c.3318A>T (p.Lys1106Asn) c.2528-492A>T (n.2528-492A>T) | |
| 2 | g.189007563G>A | CA006301 | COL3A1 | c.3220G>A (p.Gly1074Arg) c.3319G>A (p.Gly1107Arg) c.2528-491G>A (n.2528-491G>A) | ClinVar dbSNP |
| 2 | g.189007563G>C | CA349845789 | COL3A1 | c.3220G>C (p.Gly1074Arg) c.3319G>C (p.Gly1107Arg) c.2528-491G>C (n.2528-491G>C) | |
| 2 | g.189007563G= | CA1315404826 | COL3A1 | c.3220G= (p.Gly1074=) c.3319G= (p.Gly1107=) c.2528-491G= (n.2528-491G=) | |
| 2 | g.189007563G>T | CA349845788 | COL3A1 | c.3220G>T (p.Gly1074Ter) c.3319G>T (p.Gly1107Ter) c.2528-491G>T (n.2528-491G>T) | |
| 2 | g.189007564G>A | CA349845793 | COL3A1 | c.3221G>A (p.Gly1074Glu) c.3320G>A (p.Gly1107Glu) c.2528-490G>A (n.2528-490G>A) | COSMIC |
| 2 | g.189007564G>C | CA349845794 | COL3A1 | c.3221G>C (p.Gly1074Ala) c.3320G>C (p.Gly1107Ala) c.2528-490G>C (n.2528-490G>C) | |
| 2 | g.189007564G>T | CA349845797 | COL3A1 | c.3221G>T (p.Gly1074Val) c.3320G>T (p.Gly1107Val) c.2528-490G>T (n.2528-490G>T) | |
| 2 | g.189007565A= | CA1315404827 | COL3A1 | c.3222A= (p.Gly1074=) c.3321A= (p.Gly1107=) c.2528-489A= (n.2528-489A=) | |
| 2 | g.189007565A>C | CA430313309 | COL3A1 | c.3222A>C (p.Gly1074=) c.3321A>C (p.Gly1107=) c.2528-489A>C (n.2528-489A>C) | gnomAD v4 |
| 2 | g.189007565A>G | CA430313310 | COL3A1 | c.3222A>G (p.Gly1074=) c.3321A>G (p.Gly1107=) c.2528-489A>G (n.2528-489A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007565A>T | CA430313311 | COL3A1 | c.3222A>T (p.Gly1074=) c.3321A>T (p.Gly1107=) c.2528-489A>T (n.2528-489A>T) | |
| 2 | g.189007566C>A | CA349845798 | COL3A1 | c.3223C>A (p.His1075Asn) c.3322C>A (p.His1108Asn) c.2528-488C>A (n.2528-488C>A) | |
| 2 | g.189007566C>G | CA349845800 | COL3A1 | c.3223C>G (p.His1075Asp) c.3322C>G (p.His1108Asp) c.2528-488C>G (n.2528-488C>G) | |
| 2 | g.189007566C>T | CA349845801 | COL3A1 | c.3223C>T (p.His1075Tyr) c.3322C>T (p.His1108Tyr) c.2528-488C>T (n.2528-488C>T) | |
| 2 | g.189007567A= | CA1315404828 | COL3A1 | c.3224A= (p.His1075=) c.3323A= (p.His1108=) c.2528-487A= (n.2528-487A=) | |
| 2 | g.189007567A>C | CA349845803 | COL3A1 | c.3224A>C (p.His1075Pro) c.3323A>C (p.His1108Pro) c.2528-487A>C (n.2528-487A>C) | |
| 2 | g.189007567A>G | CA349845804 | COL3A1 | c.3224A>G (p.His1075Arg) c.3323A>G (p.His1108Arg) c.2528-487A>G (n.2528-487A>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189007567A>T | CA349845806 | COL3A1 | c.3224A>T (p.His1075Leu) c.3323A>T (p.His1108Leu) c.2528-487A>T (n.2528-487A>T) | |
| 2 | g.189007568T>A | CA349845808 | COL3A1 | c.3225T>A (p.His1075Gln) c.3324T>A (p.His1108Gln) c.2528-486T>A (n.2528-486T>A) | |
| 2 | g.189007568T>C | CA430313313 | COL3A1 | c.3225T>C (p.His1075=) c.3324T>C (p.His1108=) c.2528-486T>C (n.2528-486T>C) | |
| 2 | g.189007568T>G | CA349845809 | COL3A1 | c.3225T>G (p.His1075Gln) c.3324T>G (p.His1108Gln) c.2528-486T>G (n.2528-486T>G) | |
| 2 | g.189007569C>A | CA430313314 | COL3A1 | c.3226C>A (p.Arg1076=) c.3325C>A (p.Arg1109=) c.2528-485C>A (n.2528-485C>A) | dbSNP |
| 2 | g.189007569C= | CA1315404829 | COL3A1 | c.3226C= (p.Arg1076=) c.3325C= (p.Arg1109=) c.2528-485C= (n.2528-485C=) | |
| 2 | g.189007569C>G | CA006308 | COL3A1 | c.3226C>G (p.Arg1076Gly) c.3325C>G (p.Arg1109Gly) c.2528-485C>G (n.2528-485C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007569C>T | CA006314 | COL3A1 | c.3226C>T (p.Arg1076Ter) c.3325C>T (p.Arg1109Ter) c.2528-485C>T (n.2528-485C>T) | ClinVar dbSNP COSMIC |
| 2 | g.189007570G>A | CA006320 | COL3A1 | c.3227G>A (p.Arg1076Gln) c.3326G>A (p.Arg1109Gln) c.2528-484G>A (n.2528-484G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189007570G>C | CA349845816 | COL3A1 | c.3227G>C (p.Arg1076Pro) c.3326G>C (p.Arg1109Pro) c.2528-484G>C (n.2528-484G>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189007570G= | CA1315404830 | COL3A1 | c.3227G= (p.Arg1076=) c.3326G= (p.Arg1109=) c.2528-484G= (n.2528-484G=) | |
| 2 | g.189007570G>T | CA349845814 | COL3A1 | c.3227G>T (p.Arg1076Leu) c.3326G>T (p.Arg1109Leu) c.2528-484G>T (n.2528-484G>T) | |
| 2 | g.189007571A>C | CA430313316 | COL3A1 | c.3228A>C (p.Arg1076=) c.3327A>C (p.Arg1109=) c.2528-483A>C (n.2528-483A>C) | |
| 2 | g.189007571A>G | CA430313317 | COL3A1 | c.3228A>G (p.Arg1076=) c.3327A>G (p.Arg1109=) c.2528-483A>G (n.2528-483A>G) | |
| 2 | g.189007571A>T | CA430313318 | COL3A1 | c.3228A>T (p.Arg1076=) c.3327A>T (p.Arg1109=) c.2528-483A>T (n.2528-483A>T) | |
| 2 | g.189007571_189007579delinsAGGATTCCC | CA1315404831 | COL3A1 | c.3228_3236delinsAGGATTCCC (p.Arg1076=) c.3327_3335delinsAGGATTCCC (p.Arg1109=) c.2528-483_2528-475delinsAGGATTCCC (n.2528-483_2528-475delinsAGGATTCCC) | |
| 2 | g.189007572G>A | CA349845822 | COL3A1 | c.3229G>A (p.Gly1077Arg) c.3328G>A (p.Gly1110Arg) c.2528-482G>A (n.2528-482G>A) | |
| 2 | g.189007572G>C | CA349845819 | COL3A1 | c.3229G>C (p.Gly1077Arg) c.3328G>C (p.Gly1110Arg) c.2528-482G>C (n.2528-482G>C) | |
| 2 | g.189007572G>T | CA349845821 | COL3A1 | c.3229G>T (p.Gly1077Ter) c.3328G>T (p.Gly1110Ter) c.2528-482G>T (n.2528-482G>T) | |
| 2 | g.189007572_189007579del | CA1315404832 | COL3A1 | c.3229_3236del (p.Gly1077TrpfsTer2) c.3328_3335del (p.Gly1110TrpfsTer2) c.2528-482_2528-475del (n.2528-482_2528-475del) | dbSNP |
| 2 | g.189007573G>A | CA006327 | COL3A1 | c.3230G>A (p.Gly1077Glu) c.3329G>A (p.Gly1110Glu) c.2528-481G>A (n.2528-481G>A) | ClinVar dbSNP COSMIC |
| 2 | g.189007573G>C | CA349845826 | COL3A1 | c.3230G>C (p.Gly1077Ala) c.3329G>C (p.Gly1110Ala) c.2528-481G>C (n.2528-481G>C) | |
| 2 | g.189007573G= | CA1315404833 | COL3A1 | c.3230G= (p.Gly1077=) c.3329G= (p.Gly1110=) c.2528-481G= (n.2528-481G=) | |
| 2 | g.189007573G>T | CA349845829 | COL3A1 | c.3230G>T (p.Gly1077Val) c.3329G>T (p.Gly1110Val) c.2528-481G>T (n.2528-481G>T) | |
| 2 | g.189007574A= | CA1315404834 | COL3A1 | c.3231A= (p.Gly1077=) c.3330A= (p.Gly1110=) c.2528-480A= (n.2528-480A=) | |
| 2 | g.189007574A>C | CA430313320 | COL3A1 | c.3231A>C (p.Gly1077=) c.3330A>C (p.Gly1110=) c.2528-480A>C (n.2528-480A>C) | |
| 2 | g.189007574A>G | CA430313321 | COL3A1 | c.3231A>G (p.Gly1077=) c.3330A>G (p.Gly1110=) c.2528-480A>G (n.2528-480A>G) | |
| 2 | g.189007574A>T | CA430313322 | COL3A1 | c.3231A>T (p.Gly1077=) c.3330A>T (p.Gly1110=) c.2528-480A>T (n.2528-480A>T) | dbSNP |
| 2 | g.189007575T>A | CA349845831 | COL3A1 | c.3232T>A (p.Phe1078Ile) c.3331T>A (p.Phe1111Ile) c.2528-479T>A (n.2528-479T>A) | |
| 2 | g.189007575T>C | CA349845833 | COL3A1 | c.3232T>C (p.Phe1078Leu) c.3331T>C (p.Phe1111Leu) c.2528-479T>C (n.2528-479T>C) | |
| 2 | g.189007575T>G | CA349845836 | COL3A1 | c.3232T>G (p.Phe1078Val) c.3331T>G (p.Phe1111Val) c.2528-479T>G (n.2528-479T>G) | |
| 2 | g.189007576T>A | CA349845837 | COL3A1 | c.3233T>A (p.Phe1078Tyr) c.3332T>A (p.Phe1111Tyr) c.2528-478T>A (n.2528-478T>A) | gnomAD v4 |
| 2 | g.189007576T>C | CA349845839 | COL3A1 | c.3233T>C (p.Phe1078Ser) c.3332T>C (p.Phe1111Ser) c.2528-478T>C (n.2528-478T>C) | |
| 2 | g.189007576T>G | CA349845842 | COL3A1 | c.3233T>G (p.Phe1078Cys) c.3332T>G (p.Phe1111Cys) c.2528-478T>G (n.2528-478T>G) | |
| 2 | g.189007577C>A | CA349845844 | COL3A1 | c.3234C>A (p.Phe1078Leu) c.3333C>A (p.Phe1111Leu) c.2528-477C>A (n.2528-477C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189007577C= | CA1315404835 | COL3A1 | c.3234C= (p.Phe1078=) c.3333C= (p.Phe1111=) c.2528-477C= (n.2528-477C=) | |
| 2 | g.189007577C>G | CA349845846 | COL3A1 | c.3234C>G (p.Phe1078Leu) c.3333C>G (p.Phe1111Leu) c.2528-477C>G (n.2528-477C>G) | |
| 2 | g.189007577C>T | CA430313324 | COL3A1 | c.3234C>T (p.Phe1078=) c.3333C>T (p.Phe1111=) c.2528-477C>T (n.2528-477C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007578C>A | CA349845852 | COL3A1 | c.3235C>A (p.Pro1079Thr) c.3334C>A (p.Pro1112Thr) c.2528-476C>A (n.2528-476C>A) | |
| 2 | g.189007578C>G | CA349845851 | COL3A1 | c.3235C>G (p.Pro1079Ala) c.3334C>G (p.Pro1112Ala) c.2528-476C>G (n.2528-476C>G) | |
| 2 | g.189007578C>T | CA349845848 | COL3A1 | c.3235C>T (p.Pro1079Ser) c.3334C>T (p.Pro1112Ser) c.2528-476C>T (n.2528-476C>T) | COSMIC |
| 2 | g.189007579C>A | CA349845855 | COL3A1 | c.3236C>A (p.Pro1079His) c.3335C>A (p.Pro1112His) c.2528-475C>A (n.2528-475C>A) | gnomAD v4 |
| 2 | g.189007579C>G | CA349845857 | COL3A1 | c.3236C>G (p.Pro1079Arg) c.3335C>G (p.Pro1112Arg) c.2528-475C>G (n.2528-475C>G) | |
| 2 | g.189007579C>T | CA349845859 | COL3A1 | c.3236C>T (p.Pro1079Leu) c.3335C>T (p.Pro1112Leu) c.2528-475C>T (n.2528-475C>T) | gnomAD v4 |
| 2 | g.189007580T>A | CA430313327 | COL3A1 | c.3237T>A (p.Pro1079=) c.3336T>A (p.Pro1112=) c.2528-474T>A (n.2528-474T>A) | |
| 2 | g.189007580T>C | CA076020 | COL3A1 | c.3237T>C (p.Pro1079=) c.3336T>C (p.Pro1112=) c.2528-474T>C (n.2528-474T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007580T>G | CA430313328 | COL3A1 | c.3237T>G (p.Pro1079=) c.3336T>G (p.Pro1112=) c.2528-474T>G (n.2528-474T>G) | |
| 2 | g.189007580T= | CA1315404836 | COL3A1 | c.3237T= (p.Pro1079=) c.3336T= (p.Pro1112=) c.2528-474T= (n.2528-474T=) | |
| 2 | g.189007581G>A | CA349845863 | COL3A1 | c.3238G>A (p.Gly1080Ser) c.3337G>A (p.Gly1113Ser) c.2528-473G>A (n.2528-473G>A) | |
| 2 | g.189007581G>C | CA349845865 | COL3A1 | c.3238G>C (p.Gly1080Arg) c.3337G>C (p.Gly1113Arg) c.2528-473G>C (n.2528-473G>C) | |
| 2 | g.189007581G>T | CA349845866 | COL3A1 | c.3238G>T (p.Gly1080Cys) c.3337G>T (p.Gly1113Cys) c.2528-473G>T (n.2528-473G>T) | gnomAD v4 |
| 2 | g.189007582G>A | CA349845867 | COL3A1 | c.3239G>A (p.Gly1080Asp) c.3338G>A (p.Gly1113Asp) c.2528-472G>A (n.2528-472G>A) | ClinVar |
| 2 | g.189007582G>C | CA349845869 | COL3A1 | c.3239G>C (p.Gly1080Ala) c.3338G>C (p.Gly1113Ala) c.2528-472G>C (n.2528-472G>C) | |
| 2 | g.189007582G>T | CA349845871 | COL3A1 | c.3239G>T (p.Gly1080Val) c.3338G>T (p.Gly1113Val) c.2528-472G>T (n.2528-472G>T) | |
| 2 | g.189007582_189007620delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA | CA1315404837 | COL3A1 | c.3239_3264+13delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA c.3338_3363+13delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA c.2528-472_2528-434delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA (n.2528-472_2528-434delinsGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCA) | |
| 2 | g.189007583T>A | CA430313330 | COL3A1 | c.3240T>A (p.Gly1080=) c.3339T>A (p.Gly1113=) c.2528-471T>A (n.2528-471T>A) | |
| 2 | g.189007583T>C | CA430313331 | COL3A1 | c.3240T>C (p.Gly1080=) c.3339T>C (p.Gly1113=) c.2528-471T>C (n.2528-471T>C) | dbSNP |
| 2 | g.189007583T>G | CA430313332 | COL3A1 | c.3240T>G (p.Gly1080=) c.3339T>G (p.Gly1113=) c.2528-471T>G (n.2528-471T>G) | |
| 2 | g.189007583T= | CA1315404839 | COL3A1 | c.3240T= (p.Gly1080=) c.3339T= (p.Gly1113=) c.2528-471T= (n.2528-471T=) | |
| 2 | g.189007584_189007621del | CA1315404838 | COL3A1 | c.3241_3264+14del c.3340_3363+14del c.2528-470_2528-433del (n.2528-470_2528-433del) | dbSNP |
| 2 | g.189007584A>C | CA349845873 | COL3A1 | c.3241A>C (p.Asn1081His) c.3340A>C (p.Asn1114His) c.2528-470A>C (n.2528-470A>C) | |
| 2 | g.189007584A>G | CA349845876 | COL3A1 | c.3241A>G (p.Asn1081Asp) c.3340A>G (p.Asn1114Asp) c.2528-470A>G (n.2528-470A>G) | |
| 2 | g.189007584A>T | CA349845878 | COL3A1 | c.3241A>T (p.Asn1081Tyr) c.3340A>T (p.Asn1114Tyr) c.2528-470A>T (n.2528-470A>T) | |
| 2 | g.189007585A>C | CA349845881 | COL3A1 | c.3242A>C (p.Asn1081Thr) c.3341A>C (p.Asn1114Thr) c.2528-469A>C (n.2528-469A>C) | |
| 2 | g.189007585A>G | CA349845882 | COL3A1 | c.3242A>G (p.Asn1081Ser) c.3341A>G (p.Asn1114Ser) c.2528-469A>G (n.2528-469A>G) | ClinVar |
| 2 | g.189007585A>T | CA349845880 | COL3A1 | c.3242A>T (p.Asn1081Ile) c.3341A>T (p.Asn1114Ile) c.2528-469A>T (n.2528-469A>T) | |
| 2 | g.189007586T>A | CA349845884 | COL3A1 | c.3243T>A (p.Asn1081Lys) c.3342T>A (p.Asn1114Lys) c.2528-468T>A (n.2528-468T>A) | |
| 2 | g.189007586T>C | CA430313334 | COL3A1 | c.3243T>C (p.Asn1081=) c.3342T>C (p.Asn1114=) c.2528-468T>C (n.2528-468T>C) | |
| 2 | g.189007586T>G | CA349845886 | COL3A1 | c.3243T>G (p.Asn1081Lys) c.3342T>G (p.Asn1114Lys) c.2528-468T>G (n.2528-468T>G) | |
| 2 | g.189007587C>A | CA349845888 | COL3A1 | c.3244C>A (p.Pro1082Thr) c.3343C>A (p.Pro1115Thr) c.2528-467C>A (n.2528-467C>A) | gnomAD v4 |
| 2 | g.189007587C>G | CA349845890 | COL3A1 | c.3244C>G (p.Pro1082Ala) c.3343C>G (p.Pro1115Ala) c.2528-467C>G (n.2528-467C>G) | |
| 2 | g.189007587C>T | CA349845892 | COL3A1 | c.3244C>T (p.Pro1082Ser) c.3343C>T (p.Pro1115Ser) c.2528-467C>T (n.2528-467C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007588C>A | CA349845894 | COL3A1 | c.3245C>A (p.Pro1082Gln) c.3344C>A (p.Pro1115Gln) c.2528-466C>A (n.2528-466C>A) | |
| 2 | g.189007588C= | CA1315404840 | COL3A1 | c.3245C= (p.Pro1082=) c.3344C= (p.Pro1115=) c.2528-466C= (n.2528-466C=) | |
| 2 | g.189007588C>G | CA349845896 | COL3A1 | c.3245C>G (p.Pro1082Arg) c.3344C>G (p.Pro1115Arg) c.2528-466C>G (n.2528-466C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007588C>T | CA349845898 | COL3A1 | c.3245C>T (p.Pro1082Leu) c.3344C>T (p.Pro1115Leu) c.2528-466C>T (n.2528-466C>T) | |
| 2 | g.189007589A= | CA1315404841 | COL3A1 | c.3246A= (p.Pro1082=) c.3345A= (p.Pro1115=) c.2528-465A= (n.2528-465A=) | |
| 2 | g.189007589A>C | CA430313337 | COL3A1 | c.3246A>C (p.Pro1082=) c.3345A>C (p.Pro1115=) c.2528-465A>C (n.2528-465A>C) | |
| 2 | g.189007589A>G | CA62561442 | COL3A1 | c.3246A>G (p.Pro1082=) c.3345A>G (p.Pro1115=) c.2528-465A>G (n.2528-465A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189007589A>T | CA430313338 | COL3A1 | c.3246A>T (p.Pro1082=) c.3345A>T (p.Pro1115=) c.2528-465A>T (n.2528-465A>T) | |
| 2 | g.189007590G>A | CA349845900 | COL3A1 | c.3247G>A (p.Gly1083Ser) c.3346G>A (p.Gly1116Ser) c.2528-464G>A (n.2528-464G>A) | |
| 2 | g.189007590G>C | CA349845903 | COL3A1 | c.3247G>C (p.Gly1083Arg) c.3346G>C (p.Gly1116Arg) c.2528-464G>C (n.2528-464G>C) | |
| 2 | g.189007590G>T | CA349845904 | COL3A1 | c.3247G>T (p.Gly1083Cys) c.3346G>T (p.Gly1116Cys) c.2528-464G>T (n.2528-464G>T) | |
| 2 | g.189007591G>A | CA349845909 | COL3A1 | c.3248G>A (p.Gly1083Asp) c.3347G>A (p.Gly1116Asp) c.2528-463G>A (n.2528-463G>A) | |
| 2 | g.189007591G>C | CA349845907 | COL3A1 | c.3248G>C (p.Gly1083Ala) c.3347G>C (p.Gly1116Ala) c.2528-463G>C (n.2528-463G>C) | |
| 2 | g.189007591G= | CA1315404842 | COL3A1 | c.3248G= (p.Gly1083=) c.3347G= (p.Gly1116=) c.2528-463G= (n.2528-463G=) | |
| 2 | g.189007591G>T | CA006333 | COL3A1 | c.3248G>T (p.Gly1083Val) c.3347G>T (p.Gly1116Val) c.2528-463G>T (n.2528-463G>T) | ClinVar dbSNP |
| 2 | g.189007592T>A | CA430313340 | COL3A1 | c.3249T>A (p.Gly1083=) c.3348T>A (p.Gly1116=) c.2528-462T>A (n.2528-462T>A) | |
| 2 | g.189007592T>C | CA430313341 | COL3A1 | c.3249T>C (p.Gly1083=) c.3348T>C (p.Gly1116=) c.2528-462T>C (n.2528-462T>C) | |
| 2 | g.189007592T>G | CA430313342 | COL3A1 | c.3249T>G (p.Gly1083=) c.3348T>G (p.Gly1116=) c.2528-462T>G (n.2528-462T>G) | |
| 2 | g.189007593G>A | CA349845911 | COL3A1 | c.3250G>A (p.Ala1084Thr) c.3349G>A (p.Ala1117Thr) c.2528-461G>A (n.2528-461G>A) | |
| 2 | g.189007593G>C | CA349845913 | COL3A1 | c.3250G>C (p.Ala1084Pro) c.3349G>C (p.Ala1117Pro) c.2528-461G>C (n.2528-461G>C) | dbSNP |
| 2 | g.189007593G= | CA1315404843 | COL3A1 | c.3250G= (p.Ala1084=) c.3349G= (p.Ala1117=) c.2528-461G= (n.2528-461G=) | |
| 2 | g.189007593G>T | CA076030 | COL3A1 | c.3250G>T (p.Ala1084Ser) c.3349G>T (p.Ala1117Ser) c.2528-461G>T (n.2528-461G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007594C>A | CA349845917 | COL3A1 | c.3251C>A (p.Ala1084Asp) c.3350C>A (p.Ala1117Asp) c.2528-460C>A (n.2528-460C>A) | |
| 2 | g.189007594C>G | CA349845919 | COL3A1 | c.3251C>G (p.Ala1084Gly) c.3350C>G (p.Ala1117Gly) c.2528-460C>G (n.2528-460C>G) | |
| 2 | g.189007594C>T | CA349845921 | COL3A1 | c.3251C>T (p.Ala1084Val) c.3350C>T (p.Ala1117Val) c.2528-460C>T (n.2528-460C>T) | dbSNP |
| 2 | g.189007597del | CA2701312139 | COL3A1 | c.3254del (p.Pro1085GlnfsTer?) c.3353del (p.Pro1118GlnfsTer?) c.2528-457del (n.2528-457del) | dbSNP |
| 2 | g.189007595C>A | CA430313344 | COL3A1 | c.3252C>A (p.Ala1084=) c.3351C>A (p.Ala1117=) c.2528-459C>A (n.2528-459C>A) | |
| 2 | g.189007595C>G | CA430313345 | COL3A1 | c.3252C>G (p.Ala1084=) c.3351C>G (p.Ala1117=) c.2528-459C>G (n.2528-459C>G) | |
| 2 | g.189007595C>T | CA430313346 | COL3A1 | c.3252C>T (p.Ala1084=) c.3351C>T (p.Ala1117=) c.2528-459C>T (n.2528-459C>T) | dbSNP |
| 2 | g.189007596C>A | CA349845924 | COL3A1 | c.3253C>A (p.Pro1085Thr) c.3352C>A (p.Pro1118Thr) c.2528-458C>A (n.2528-458C>A) | gnomAD v4 |
| 2 | g.189007596C= | CA1315404844 | COL3A1 | c.3253C= (p.Pro1085=) c.3352C= (p.Pro1118=) c.2528-458C= (n.2528-458C=) | |
| 2 | g.189007596C>G | CA349845926 | COL3A1 | c.3253C>G (p.Pro1085Ala) c.3352C>G (p.Pro1118Ala) c.2528-458C>G (n.2528-458C>G) | |
| 2 | g.189007596C>T | CA076033 | COL3A1 | c.3253C>T (p.Pro1085Ser) c.3352C>T (p.Pro1118Ser) c.2528-458C>T (n.2528-458C>T) | dbSNP ExAC |
| 2 | g.189007597C>A | CA349845930 | COL3A1 | c.3254C>A (p.Pro1085Gln) c.3353C>A (p.Pro1118Gln) c.2528-457C>A (n.2528-457C>A) | |
| 2 | g.189007597C= | CA1315404845 | COL3A1 | c.3254C= (p.Pro1085=) c.3353C= (p.Pro1118=) c.2528-457C= (n.2528-457C=) | |
| 2 | g.189007597C>G | CA349845932 | COL3A1 | c.3254C>G (p.Pro1085Arg) c.3353C>G (p.Pro1118Arg) c.2528-457C>G (n.2528-457C>G) | |
| 2 | g.189007597C>T | CA076035 | COL3A1 | c.3254C>T (p.Pro1085Leu) c.3353C>T (p.Pro1118Leu) c.2528-457C>T (n.2528-457C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189007598A>C | CA430313349 | COL3A1 | c.3255A>C (p.Pro1085=) c.3354A>C (p.Pro1118=) c.2528-456A>C (n.2528-456A>C) | |
| 2 | g.189007598A>G | CA430313350 | COL3A1 | c.3255A>G (p.Pro1085=) c.3354A>G (p.Pro1118=) c.2528-456A>G (n.2528-456A>G) | gnomAD v4 |
| 2 | g.189007598A>T | CA430313351 | COL3A1 | c.3255A>T (p.Pro1085=) c.3354A>T (p.Pro1118=) c.2528-456A>T (n.2528-456A>T) | |
| 2 | g.189007599G>A | CA349845938 | COL3A1 | c.3256G>A (p.Gly1086Ser) c.3355G>A (p.Gly1119Ser) c.2528-455G>A (n.2528-455G>A) | |
| 2 | g.189007599G>C | CA349845939 | COL3A1 | c.3256G>C (p.Gly1086Arg) c.3355G>C (p.Gly1119Arg) c.2528-455G>C (n.2528-455G>C) | |
| 2 | g.189007599G>T | CA349845936 | COL3A1 | c.3256G>T (p.Gly1086Cys) c.3355G>T (p.Gly1119Cys) c.2528-455G>T (n.2528-455G>T) | |
| 2 | g.189007600G>A | CA006338 | COL3A1 | c.3257G>A (p.Gly1086Asp) c.3356G>A (p.Gly1119Asp) c.2528-454G>A (n.2528-454G>A) | ClinVar dbSNP |
| 2 | g.189007600G>C | CA349845942 | COL3A1 | c.3257G>C (p.Gly1086Ala) c.3356G>C (p.Gly1119Ala) c.2528-454G>C (n.2528-454G>C) | |
| 2 | g.189007600G= | CA1315404846 | COL3A1 | c.3257G= (p.Gly1086=) c.3356G= (p.Gly1119=) c.2528-454G= (n.2528-454G=) | |
| 2 | g.189007600G>T | CA349845944 | COL3A1 | c.3257G>T (p.Gly1086Val) c.3356G>T (p.Gly1119Val) c.2528-454G>T (n.2528-454G>T) | |
| 2 | g.189007601T>A | CA430313353 | COL3A1 | c.3258T>A (p.Gly1086=) c.3357T>A (p.Gly1119=) c.2528-453T>A (n.2528-453T>A) | |
| 2 | g.189007601T>C | CA076037 | COL3A1 | c.3258T>C (p.Gly1086=) c.3357T>C (p.Gly1119=) c.2528-453T>C (n.2528-453T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189007601T>G | CA430313355 | COL3A1 | c.3258T>G (p.Gly1086=) c.3357T>G (p.Gly1119=) c.2528-453T>G (n.2528-453T>G) | |
| 2 | g.189007601T= | CA1315404847 | COL3A1 | c.3258T= (p.Gly1086=) c.3357T= (p.Gly1119=) c.2528-453T= (n.2528-453T=) |