| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50185457dup | CA8644151 | COL1A1 | c.*50dup (n.*50dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185457del | CA8644150 | COL1A1 | c.*50del (n.*50del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185456_50185457del | CA2638704231 | COL1A1 | c.*49_*50del (n.*49_*50del) | gnomAD v4 |
| 17 | g.50185453G>A | CA8644153 | COL1A1 | c.*49C>T (n.*49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185453G>C | CA8644152 | COL1A1 | c.*49C>G (n.*49C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185453G= | CA2263913634 | COL1A1 | c.*49C= (n.*49C=) | |
| 17 | g.50185453G>T | CA2263913633 | COL1A1 | c.*49C>A (n.*49C>A) | dbSNP gnomAD v4 |
| 17 | g.50185454G>A | CA2263913635 | COL1A1 | c.*48C>T (n.*48C>T) | dbSNP |
| 17 | g.50185454G= | CA2263913636 | COL1A1 | c.*48C= (n.*48C=) | |
| 17 | g.50185455G>A | CA2263913638 | COL1A1 | c.*47C>T (n.*47C>T) | dbSNP gnomAD v4 |
| 17 | g.50185455G= | CA2263913637 | COL1A1 | c.*47C= (n.*47C=) | |
| 17 | g.50185457G>A | CA8644154 | COL1A1 | c.*45C>T (n.*45C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185457G= | CA2263913639 | COL1A1 | c.*45C= (n.*45C=) | |
| 17 | g.50185457G>T | CA2638704234 | COL1A1 | c.*45C>A (n.*45C>A) | gnomAD v4 |
| 17 | g.50185457_50185458delinsGA | CA2263913640 | COL1A1 | c.*44_*45delinsTC (n.*44_*45delinsTC) | |
| 17 | g.50185458A= | CA2263913641 | COL1A1 | c.*44T= (n.*44T=) | |
| 17 | g.50185458A>C | CA8644156 | COL1A1 | c.*44T>G (n.*44T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185458A>G | CA2576316968 | COL1A1 | c.*44T>C (n.*44T>C) | |
| 17 | g.50185458A>T | CA8644155 | COL1A1 | c.*44T>A (n.*44T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185460del | CA626485710 | COL1A1 | c.*44del (n.*44del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185459A= | CA2263913642 | COL1A1 | c.*43T= (n.*43T=) | |
| 17 | g.50185459A>C | CA8644157 | COL1A1 | c.*43T>G (n.*43T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185460A= | CA2263913643 | COL1A1 | c.*42T= (n.*42T=) | |
| 17 | g.50185460A>G | CA500842546 | COL1A1 | c.*42T>C (n.*42T>C) | dbSNP gnomAD v4 |
| 17 | g.50185460A>T | CA2638704237 | COL1A1 | c.*42T>A (n.*42T>A) | gnomAD v4 |
| 17 | g.50185461G= | CA2263913644 | COL1A1 | c.*41C= (n.*41C=) | |
| 17 | g.50185461G>T | CA626485711 | COL1A1 | c.*41C>A (n.*41C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185466_50185469del | CA2809756878 | COL1A1 | c.*38_*41del (n.*38_*41del) | |
| 17 | g.50185462T>C | CA984452130 | COL1A1 | c.*40A>G (n.*40A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185462T>G | CA2638704240 | COL1A1 | c.*40A>C (n.*40A>C) | gnomAD v4 |
| 17 | g.50185462T= | CA2263913645 | COL1A1 | c.*40A= (n.*40A=) | |
| 17 | g.50185463T>C | CA2638704242 | COL1A1 | c.*39A>G (n.*39A>G) | gnomAD v4 |
| 17 | g.50185463T>G | CA2263913647 | COL1A1 | c.*39A>C (n.*39A>C) | dbSNP |
| 17 | g.50185463T= | CA2263913646 | COL1A1 | c.*39A= (n.*39A=) | |
| 17 | g.50185464G>C | CA2263913649 | COL1A1 | c.*38C>G (n.*38C>G) | dbSNP |
| 17 | g.50185464G= | CA2263913648 | COL1A1 | c.*38C= (n.*38C=) | |
| 17 | g.50185465G>A | CA8644158 | COL1A1 | c.*37C>T (n.*37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185465G= | CA2263913650 | COL1A1 | c.*37C= (n.*37C=) | |
| 17 | g.50185466T>C | CA2263913651 | COL1A1 | c.*36A>G (n.*36A>G) | dbSNP gnomAD v4 |
| 17 | g.50185466T>G | CA291542751 | COL1A1 | c.*36A>C (n.*36A>C) | dbSNP |
| 17 | g.50185466T= | CA2263913652 | COL1A1 | c.*36A= (n.*36A=) | |
| 17 | g.50185467T>C | CA2638704245 | COL1A1 | c.*35A>G (n.*35A>G) | gnomAD v4 |
| 17 | g.50185467T>G | CA2507697123 | COL1A1 | c.*35A>C (n.*35A>C) | |
| 17 | g.50185468G>T | CA2638704246 | COL1A1 | c.*34C>A (n.*34C>A) | gnomAD v4 |
| 17 | g.50185470del | CA2809756879 | COL1A1 | c.*34del (n.*34del) | |
| 17 | g.50185470G>A | CA291542752 | COL1A1 | c.*32C>T (n.*32C>T) | dbSNP |
| 17 | g.50185470G= | CA2263913653 | COL1A1 | c.*32C= (n.*32C=) | |
| 17 | g.50185472G>A | CA2638704247 | COL1A1 | c.*30C>T (n.*30C>T) | gnomAD v4 |
| 17 | g.50185473_50185474del | CA2809756880 | COL1A1 | c.*29_*30del (n.*29_*30del) | |
| 17 | g.50185474G>A | CA772779926 | COL1A1 | c.*28C>T (n.*28C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185474G= | CA2263913654 | COL1A1 | c.*28C= (n.*28C=) | |
| 17 | g.50185477G>C | CA2638704248 | COL1A1 | c.*25C>G (n.*25C>G) | gnomAD v4 |
| 17 | g.50185478G>A | CA8644159 | COL1A1 | c.*24C>T (n.*24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185478G= | CA2263913655 | COL1A1 | c.*24C= (n.*24C=) | |
| 17 | g.50185479A= | CA2263913656 | COL1A1 | c.*23T= (n.*23T=) | |
| 17 | g.50185479A>G | CA984452136 | COL1A1 | c.*23T>C (n.*23T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185480G>A | CA2263913658 | COL1A1 | c.*22C>T (n.*22C>T) | dbSNP |
| 17 | g.50185480G= | CA2263913657 | COL1A1 | c.*22C= (n.*22C=) | |
| 17 | g.50185481C= | CA2263913659 | COL1A1 | c.*21G= (n.*21G=) | |
| 17 | g.50185481C>G | CA8644160 | COL1A1 | c.*21G>C (n.*21G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185482C= | CA2263913660 | COL1A1 | c.*20G= (n.*20G=) | |
| 17 | g.50185482C>G | CA8644161 | COL1A1 | c.*20G>C (n.*20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185482C>T | CA291542753 | COL1A1 | c.*20G>A (n.*20G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185484G>A | CA291542754 | COL1A1 | c.*18C>T (n.*18C>T) | dbSNP gnomAD v4 |
| 17 | g.50185484G= | CA2263913661 | COL1A1 | c.*18C= (n.*18C=) | |
| 17 | g.50185485G>A | CA2263913663 | COL1A1 | c.*17C>T (n.*17C>T) | dbSNP |
| 17 | g.50185485G= | CA2263913662 | COL1A1 | c.*17C= (n.*17C=) | |
| 17 | g.50185485G>T | CA2547601125 | COL1A1 | c.*17C>A (n.*17C>A) | |
| 17 | g.50185486T>C | CA8644162 | COL1A1 | c.*16A>G (n.*16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185486T>G | CA291542755 | COL1A1 | c.*16A>C (n.*16A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185486T= | CA2263913664 | COL1A1 | c.*16A= (n.*16A=) | |
| 17 | g.50185488G>A | CA2263913666 | COL1A1 | c.*14C>T (n.*14C>T) | dbSNP gnomAD v4 |
| 17 | g.50185488G>C | CA2638704258 | COL1A1 | c.*14C>G (n.*14C>G) | gnomAD v4 |
| 17 | g.50185488G= | CA2263913665 | COL1A1 | c.*14C= (n.*14C=) | |
| 17 | g.50185488G>T | CA291542756 | COL1A1 | c.*14C>A (n.*14C>A) | dbSNP |
| 17 | g.50185492_50185495dup | CA2263913667 | COL1A1 | c.*10_*13dup (n.*10_*13dup) | dbSNP |
| 17 | g.50185491A= | CA2263913668 | COL1A1 | c.*11T= (n.*11T=) | |
| 17 | g.50185491A>G | CA2576316969 | COL1A1 | c.*11T>C (n.*11T>C) | gnomAD v4 |
| 17 | g.50185491A>T | CA984452150 | COL1A1 | c.*11T>A (n.*11T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185493G>T | CA2576316970 | COL1A1 | c.*9C>A (n.*9C>A) | |
| 17 | g.50185494G>A | CA772779943 | COL1A1 | c.*8C>T (n.*8C>T) | dbSNP gnomAD v4 |
| 17 | g.50185494G>C | CA2576316971 | COL1A1 | c.*8C>G (n.*8C>G) | gnomAD v4 |
| 17 | g.50185494G= | CA2263913669 | COL1A1 | c.*8C= (n.*8C=) | |
| 17 | g.50185495A= | CA2263913670 | COL1A1 | c.*7T= (n.*7T=) | |
| 17 | g.50185495A>T | CA626485712 | COL1A1 | c.*7T>A (n.*7T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185496G>A | CA8644163 | COL1A1 | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185496G= | CA2263913671 | COL1A1 | c.*6C= (n.*6C=) | |
| 17 | g.50185497G>A | CA772779950 | COL1A1 | c.*5C>T (n.*5C>T) | dbSNP |
| 17 | g.50185497G= | CA2263913672 | COL1A1 | c.*5C= (n.*5C=) | |
| 17 | g.50185498G>A | CA8644164 | COL1A1 | c.*4C>T (n.*4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185498G= | CA2263913673 | COL1A1 | c.*4C= (n.*4C=) | |
| 17 | g.50185498G>T | CA2263913674 | COL1A1 | c.*4C>A (n.*4C>A) | dbSNP |
| 17 | g.50185500G>A | CA2576316972 | COL1A1 | c.*2C>T (n.*2C>T) | gnomAD v4 |
| 17 | g.50185501T>C | CA2263913676 | COL1A1 | c.*1A>G (n.*1A>G) | dbSNP |
| 17 | g.50185501T= | CA2263913675 | COL1A1 | c.*1A= (n.*1A=) | |
| 17 | g.50185502T>A | CA400189746 | COL1A1 | c.4395A>T (p.Ter1465Tyr) c.4125A>T (p.Ter1375Tyr) c.3477A>T (p.Ter1159Tyr) c.4197A>T (p.Ter1399Tyr) | |
| 17 | g.50185502T>C | CA500842571 | COL1A1 | c.4395A>G (p.Ter1465=) c.4125A>G (p.Ter1375=) c.3477A>G (p.Ter1159=) c.4197A>G (p.Ter1399=) | |
| 17 | g.50185502T>G | CA400189749 | COL1A1 | c.4395A>C (p.Ter1465Tyr) c.4125A>C (p.Ter1375Tyr) c.3477A>C (p.Ter1159Tyr) c.4197A>C (p.Ter1399Tyr) | |
| 17 | g.50185503T>A | CA400189752 | COL1A1 | c.4394A>T (p.Ter1465Leu) c.4124A>T (p.Ter1375Leu) c.3476A>T (p.Ter1159Leu) c.4196A>T (p.Ter1399Leu) | |
| 17 | g.50185503T>C | CA500842579 | COL1A1 | c.4394A>G (p.Ter1465=) c.4124A>G (p.Ter1375=) c.3476A>G (p.Ter1159=) c.4196A>G (p.Ter1399=) | |
| 17 | g.50185503T>G | CA400189753 | COL1A1 | c.4394A>C (p.Ter1465Ser) c.4124A>C (p.Ter1375Ser) c.3476A>C (p.Ter1159Ser) c.4196A>C (p.Ter1399Ser) | |
| 17 | g.50185504A>C | CA400189763 | COL1A1 | c.4393T>G (p.Ter1465Glu) c.4123T>G (p.Ter1375Glu) c.3475T>G (p.Ter1159Glu) c.4195T>G (p.Ter1399Glu) | |
| 17 | g.50185504A>G | CA400189766 | COL1A1 | c.4393T>C (p.Ter1465Gln) c.4123T>C (p.Ter1375Gln) c.3475T>C (p.Ter1159Gln) c.4195T>C (p.Ter1399Gln) | |
| 17 | g.50185504A>T | CA400189771 | COL1A1 | c.4393T>A (p.Ter1465Lys) c.4123T>A (p.Ter1375Lys) c.3475T>A (p.Ter1159Lys) c.4195T>A (p.Ter1399Lys) | |
| 17 | g.50185505C>A | CA500842586 | COL1A1 | c.4392G>T (p.Leu1464=) c.4122G>T (p.Leu1374=) c.3474G>T (p.Leu1158=) c.4194G>T (p.Leu1398=) | |
| 17 | g.50185505C= | CA2263913677 | COL1A1 | c.4392G= (p.Leu1464=) c.4122G= (p.Leu1374=) c.3474G= (p.Leu1158=) c.4194G= (p.Leu1398=) | |
| 17 | g.50185505C>G | CA500842588 | COL1A1 | c.4392G>C (p.Leu1464=) c.4122G>C (p.Leu1374=) c.3474G>C (p.Leu1158=) c.4194G>C (p.Leu1398=) | |
| 17 | g.50185505C>T | CA500842591 | COL1A1 | c.4392G>A (p.Leu1464=) c.4122G>A (p.Leu1374=) c.3474G>A (p.Leu1158=) c.4194G>A (p.Leu1398=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185506A= | CA2263913678 | COL1A1 | c.4391T= (p.Leu1464=) c.4121T= (p.Leu1374=) c.3473T= (p.Leu1158=) c.4193T= (p.Leu1398=) | |
| 17 | g.50185506A>C | CA400189774 | COL1A1 | c.4391T>G (p.Leu1464Arg) c.4121T>G (p.Leu1374Arg) c.3473T>G (p.Leu1158Arg) c.4193T>G (p.Leu1398Arg) | gnomAD v4 |
| 17 | g.50185506A>G | CA257905 | COL1A1 | c.4391T>C (p.Leu1464Pro) c.4121T>C (p.Leu1374Pro) c.3473T>C (p.Leu1158Pro) c.4193T>C (p.Leu1398Pro) | ClinVar dbSNP |
| 17 | g.50185506A>T | CA400189779 | COL1A1 | c.4391T>A (p.Leu1464Gln) c.4121T>A (p.Leu1374Gln) c.3473T>A (p.Leu1158Gln) c.4193T>A (p.Leu1398Gln) | |
| 17 | g.50185507G>A | CA500842597 | COL1A1 | c.4390C>T (p.Leu1464=) c.4120C>T (p.Leu1374=) c.3472C>T (p.Leu1158=) c.4192C>T (p.Leu1398=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185507G>C | CA400189784 | COL1A1 | c.4390C>G (p.Leu1464Val) c.4120C>G (p.Leu1374Val) c.3472C>G (p.Leu1158Val) c.4192C>G (p.Leu1398Val) | dbSNP |
| 17 | g.50185507G= | CA2263913679 | COL1A1 | c.4390C= (p.Leu1464=) c.4120C= (p.Leu1374=) c.3472C= (p.Leu1158=) c.4192C= (p.Leu1398=) | |
| 17 | g.50185507G>T | CA400189787 | COL1A1 | c.4390C>A (p.Leu1464Met) c.4120C>A (p.Leu1374Met) c.3472C>A (p.Leu1158Met) c.4192C>A (p.Leu1398Met) | |
| 17 | g.50185508G>A | CA500842603 | COL1A1 | c.4389C>T (p.Phe1463=) c.4119C>T (p.Phe1373=) c.3471C>T (p.Phe1157=) c.4191C>T (p.Phe1397=) | COSMIC |
| 17 | g.50185508G>C | CA400189789 | COL1A1 | c.4389C>G (p.Phe1463Leu) c.4119C>G (p.Phe1373Leu) c.3471C>G (p.Phe1157Leu) c.4191C>G (p.Phe1397Leu) | |
| 17 | g.50185508G>T | CA400189791 | COL1A1 | c.4389C>A (p.Phe1463Leu) c.4119C>A (p.Phe1373Leu) c.3471C>A (p.Phe1157Leu) c.4191C>A (p.Phe1397Leu) | |
| 17 | g.50185509A>C | CA400189802 | COL1A1 | c.4388T>G (p.Phe1463Cys) c.4118T>G (p.Phe1373Cys) c.3470T>G (p.Phe1157Cys) c.4190T>G (p.Phe1397Cys) | |
| 17 | g.50185509A>G | CA400189799 | COL1A1 | c.4388T>C (p.Phe1463Ser) c.4118T>C (p.Phe1373Ser) c.3470T>C (p.Phe1157Ser) c.4190T>C (p.Phe1397Ser) | |
| 17 | g.50185509A>T | CA400189796 | COL1A1 | c.4388T>A (p.Phe1463Tyr) c.4118T>A (p.Phe1373Tyr) c.3470T>A (p.Phe1157Tyr) c.4190T>A (p.Phe1397Tyr) | |
| 17 | g.50185510A= | CA2263913680 | COL1A1 | c.4387T= (p.Phe1463=) c.4117T= (p.Phe1373=) c.3469T= (p.Phe1157=) c.4189T= (p.Phe1397=) | |
| 17 | g.50185510A>C | CA400189808 | COL1A1 | c.4387T>G (p.Phe1463Val) c.4117T>G (p.Phe1373Val) c.3469T>G (p.Phe1157Val) c.4189T>G (p.Phe1397Val) | |
| 17 | g.50185510A>G | CA8644165 | COL1A1 | c.4387T>C (p.Phe1463Leu) c.4117T>C (p.Phe1373Leu) c.3469T>C (p.Phe1157Leu) c.4189T>C (p.Phe1397Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50185510A>T | CA400189805 | COL1A1 | c.4387T>A (p.Phe1463Ile) c.4117T>A (p.Phe1373Ile) c.3469T>A (p.Phe1157Ile) c.4189T>A (p.Phe1397Ile) | |
| 17 | g.50185510_50185511delinsAG | CA2263913681 | COL1A1 | c.4386_4387delinsCT (p.Cys1462=) c.4116_4117delinsCT (p.Cys1372=) c.3468_3469delinsCT (p.Cys1156=) c.4188_4189delinsCT (p.Cys1396=) | |
| 17 | g.50185511del | CA645293904 | COL1A1 | c.4386del (p.Phe1463SerfsTer?) c.4116del (p.Phe1373SerfsTer?) c.3468del (p.Phe1157SerfsTer?) c.4188del (p.Phe1397SerfsTer?) | ClinVar dbSNP |
| 17 | g.50185511G>A | CA500842617 | COL1A1 | c.4386C>T (p.Cys1462=) c.4116C>T (p.Cys1372=) c.3468C>T (p.Cys1156=) c.4188C>T (p.Cys1396=) | |
| 17 | g.50185511G>C | CA400189810 | COL1A1 | c.4386C>G (p.Cys1462Trp) c.4116C>G (p.Cys1372Trp) c.3468C>G (p.Cys1156Trp) c.4188C>G (p.Cys1396Trp) | |
| 17 | g.50185511G>T | CA400189812 | COL1A1 | c.4386C>A (p.Cys1462Ter) c.4116C>A (p.Cys1372Ter) c.3468C>A (p.Cys1156Ter) c.4188C>A (p.Cys1396Ter) | |
| 17 | g.50185512C>A | CA400189816 | COL1A1 | c.4385G>T (p.Cys1462Phe) c.4115G>T (p.Cys1372Phe) c.3467G>T (p.Cys1156Phe) c.4187G>T (p.Cys1396Phe) | |
| 17 | g.50185512C>G | CA400189819 | COL1A1 | c.4385G>C (p.Cys1462Ser) c.4115G>C (p.Cys1372Ser) c.3467G>C (p.Cys1156Ser) c.4187G>C (p.Cys1396Ser) | |
| 17 | g.50185512C>T | CA400189823 | COL1A1 | c.4385G>A (p.Cys1462Tyr) c.4115G>A (p.Cys1372Tyr) c.3467G>A (p.Cys1156Tyr) c.4187G>A (p.Cys1396Tyr) | |
| 17 | g.50185513A>C | CA400189828 | COL1A1 | c.4384T>G (p.Cys1462Gly) c.4114T>G (p.Cys1372Gly) c.3466T>G (p.Cys1156Gly) c.4186T>G (p.Cys1396Gly) | |
| 17 | g.50185513A>G | CA400189833 | COL1A1 | c.4384T>C (p.Cys1462Arg) c.4114T>C (p.Cys1372Arg) c.3466T>C (p.Cys1156Arg) c.4186T>C (p.Cys1396Arg) | |
| 17 | g.50185513A>T | CA400189829 | COL1A1 | c.4384T>A (p.Cys1462Ser) c.4114T>A (p.Cys1372Ser) c.3466T>A (p.Cys1156Ser) c.4186T>A (p.Cys1396Ser) | |
| 17 | g.50185514G>A | CA500842630 | COL1A1 | c.4383C>T (p.Val1461=) c.4113C>T (p.Val1371=) c.3465C>T (p.Val1155=) c.4185C>T (p.Val1395=) | |
| 17 | g.50185514G>C | CA500842632 | COL1A1 | c.4383C>G (p.Val1461=) c.4113C>G (p.Val1371=) c.3465C>G (p.Val1155=) c.4185C>G (p.Val1395=) | |
| 17 | g.50185514G= | CA2263913682 | COL1A1 | c.4383C= (p.Val1461=) c.4113C= (p.Val1371=) c.3465C= (p.Val1155=) c.4185C= (p.Val1395=) | |
| 17 | g.50185514G>T | CA8644166 | COL1A1 | c.4383C>A (p.Val1461=) c.4113C>A (p.Val1371=) c.3465C>A (p.Val1155=) c.4185C>A (p.Val1395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185515A= | CA2263913683 | COL1A1 | c.4382T= (p.Val1461=) c.4112T= (p.Val1371=) c.3464T= (p.Val1155=) c.4184T= (p.Val1395=) | |
| 17 | g.50185515A>C | CA400189837 | COL1A1 | c.4382T>G (p.Val1461Gly) c.4112T>G (p.Val1371Gly) c.3464T>G (p.Val1155Gly) c.4184T>G (p.Val1395Gly) | |
| 17 | g.50185515A>G | CA400189841 | COL1A1 | c.4382T>C (p.Val1461Ala) c.4112T>C (p.Val1371Ala) c.3464T>C (p.Val1155Ala) c.4184T>C (p.Val1395Ala) | dbSNP |
| 17 | g.50185515A>T | CA400189845 | COL1A1 | c.4382T>A (p.Val1461Asp) c.4112T>A (p.Val1371Asp) c.3464T>A (p.Val1155Asp) c.4184T>A (p.Val1395Asp) | |
| 17 | g.50185516_50185517del | CA2739291001 | COL1A1 | c.4381_4382del (p.Val1461LeufsTer?) c.4111_4112del (p.Val1371LeufsTer?) c.3463_3464del (p.Val1155LeufsTer?) c.4183_4184del (p.Val1395LeufsTer?) | |
| 17 | g.50185516C>A | CA400189851 | COL1A1 | c.4381G>T (p.Val1461Phe) c.4111G>T (p.Val1371Phe) c.3463G>T (p.Val1155Phe) c.4183G>T (p.Val1395Phe) | |
| 17 | g.50185516C= | CA2263913684 | COL1A1 | c.4381G= (p.Val1461=) c.4111G= (p.Val1371=) c.3463G= (p.Val1155=) c.4183G= (p.Val1395=) | |
| 17 | g.50185516C>G | CA400189855 | COL1A1 | c.4381G>C (p.Val1461Leu) c.4111G>C (p.Val1371Leu) c.3463G>C (p.Val1155Leu) c.4183G>C (p.Val1395Leu) | |
| 17 | g.50185516C>T | CA400189852 | COL1A1 | c.4381G>A (p.Val1461Ile) c.4111G>A (p.Val1371Ile) c.3463G>A (p.Val1155Ile) c.4183G>A (p.Val1395Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185517A>C | CA500842652 | COL1A1 | c.4380T>G (p.Pro1460=) c.4110T>G (p.Pro1370=) c.3462T>G (p.Pro1154=) c.4182T>G (p.Pro1394=) | |
| 17 | g.50185517A>G | CA500842654 | COL1A1 | c.4380T>C (p.Pro1460=) c.4110T>C (p.Pro1370=) c.3462T>C (p.Pro1154=) c.4182T>C (p.Pro1394=) | |
| 17 | g.50185517A>T | CA500842656 | COL1A1 | c.4380T>A (p.Pro1460=) c.4110T>A (p.Pro1370=) c.3462T>A (p.Pro1154=) c.4182T>A (p.Pro1394=) | |
| 17 | g.50185518G>A | CA400189858 | COL1A1 | c.4379C>T (p.Pro1460Leu) c.4109C>T (p.Pro1370Leu) c.3461C>T (p.Pro1154Leu) c.4181C>T (p.Pro1394Leu) | gnomAD v4 COSMIC |
| 17 | g.50185518G>C | CA400189862 | COL1A1 | c.4379C>G (p.Pro1460Arg) c.4109C>G (p.Pro1370Arg) c.3461C>G (p.Pro1154Arg) c.4181C>G (p.Pro1394Arg) | |
| 17 | g.50185518G= | CA2263913685 | COL1A1 | c.4379C= (p.Pro1460=) c.4109C= (p.Pro1370=) c.3461C= (p.Pro1154=) c.4181C= (p.Pro1394=) | |
| 17 | g.50185518G>T | CA291542757 | COL1A1 | c.4379C>A (p.Pro1460His) c.4109C>A (p.Pro1370His) c.3461C>A (p.Pro1154His) c.4181C>A (p.Pro1394His) | dbSNP |
| 17 | g.50185519G>A | CA400189867 | COL1A1 | c.4378C>T (p.Pro1460Ser) c.4108C>T (p.Pro1370Ser) c.3460C>T (p.Pro1154Ser) c.4180C>T (p.Pro1394Ser) | |
| 17 | g.50185519G>C | CA400189870 | COL1A1 | c.4378C>G (p.Pro1460Ala) c.4108C>G (p.Pro1370Ala) c.3460C>G (p.Pro1154Ala) c.4180C>G (p.Pro1394Ala) | |
| 17 | g.50185519G>T | CA400189874 | COL1A1 | c.4378C>A (p.Pro1460Thr) c.4108C>A (p.Pro1370Thr) c.3460C>A (p.Pro1154Thr) c.4180C>A (p.Pro1394Thr) | |
| 17 | g.50185520G>A | CA500842667 | COL1A1 | c.4377C>T (p.Gly1459=) c.4107C>T (p.Gly1369=) c.3459C>T (p.Gly1153=) c.4179C>T (p.Gly1393=) | |
| 17 | g.50185520G>C | CA500842669 | COL1A1 | c.4377C>G (p.Gly1459=) c.4107C>G (p.Gly1369=) c.3459C>G (p.Gly1153=) c.4179C>G (p.Gly1393=) | |
| 17 | g.50185520G>T | CA500842670 | COL1A1 | c.4377C>A (p.Gly1459=) c.4107C>A (p.Gly1369=) c.3459C>A (p.Gly1153=) c.4179C>A (p.Gly1393=) | |
| 17 | g.50185521C>A | CA400189877 | COL1A1 | c.4376G>T (p.Gly1459Val) c.4106G>T (p.Gly1369Val) c.3458G>T (p.Gly1153Val) c.4178G>T (p.Gly1393Val) | COSMIC |
| 17 | g.50185521C= | CA2263913686 | COL1A1 | c.4376G= (p.Gly1459=) c.4106G= (p.Gly1369=) c.3458G= (p.Gly1153=) c.4178G= (p.Gly1393=) | |
| 17 | g.50185521C>G | CA8644167 | COL1A1 | c.4376G>C (p.Gly1459Ala) c.4106G>C (p.Gly1369Ala) c.3458G>C (p.Gly1153Ala) c.4178G>C (p.Gly1393Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185521C>T | CA400189882 | COL1A1 | c.4376G>A (p.Gly1459Asp) c.4106G>A (p.Gly1369Asp) c.3458G>A (p.Gly1153Asp) c.4178G>A (p.Gly1393Asp) | |
| 17 | g.50185522C>A | CA400189885 | COL1A1 | c.4375G>T (p.Gly1459Cys) c.4105G>T (p.Gly1369Cys) c.3457G>T (p.Gly1153Cys) c.4177G>T (p.Gly1393Cys) | |
| 17 | g.50185522C>G | CA400189889 | COL1A1 | c.4375G>C (p.Gly1459Arg) c.4105G>C (p.Gly1369Arg) c.3457G>C (p.Gly1153Arg) c.4177G>C (p.Gly1393Arg) | |
| 17 | g.50185522C>T | CA400189892 | COL1A1 | c.4375G>A (p.Gly1459Ser) c.4105G>A (p.Gly1369Ser) c.3457G>A (p.Gly1153Ser) c.4177G>A (p.Gly1393Ser) | gnomAD v4 |
| 17 | g.50185523A>C | CA500842683 | COL1A1 | c.4374T>G (p.Val1458=) c.4104T>G (p.Val1368=) c.3456T>G (p.Val1152=) c.4176T>G (p.Val1392=) | |
| 17 | g.50185523A>G | CA500842685 | COL1A1 | c.4374T>C (p.Val1458=) c.4104T>C (p.Val1368=) c.3456T>C (p.Val1152=) c.4176T>C (p.Val1392=) | |
| 17 | g.50185523A>T | CA500842687 | COL1A1 | c.4374T>A (p.Val1458=) c.4104T>A (p.Val1368=) c.3456T>A (p.Val1152=) c.4176T>A (p.Val1392=) | |
| 17 | g.50185524A= | CA2263913687 | COL1A1 | c.4373T= (p.Val1458=) c.4103T= (p.Val1368=) c.3455T= (p.Val1152=) c.4175T= (p.Val1392=) | |
| 17 | g.50185524A>C | CA400189898 | COL1A1 | c.4373T>G (p.Val1458Gly) c.4103T>G (p.Val1368Gly) c.3455T>G (p.Val1152Gly) c.4175T>G (p.Val1392Gly) | |
| 17 | g.50185524A>G | CA8644168 | COL1A1 | c.4373T>C (p.Val1458Ala) c.4103T>C (p.Val1368Ala) c.3455T>C (p.Val1152Ala) c.4175T>C (p.Val1392Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185524A>T | CA400189896 | COL1A1 | c.4373T>A (p.Val1458Asp) c.4103T>A (p.Val1368Asp) c.3455T>A (p.Val1152Asp) c.4175T>A (p.Val1392Asp) | |
| 17 | g.50185525C>A | CA400189900 | COL1A1 | c.4372G>T (p.Val1458Phe) c.4102G>T (p.Val1368Phe) c.3454G>T (p.Val1152Phe) c.4174G>T (p.Val1392Phe) | |
| 17 | g.50185525C= | CA2263913688 | COL1A1 | c.4372G= (p.Val1458=) c.4102G= (p.Val1368=) c.3454G= (p.Val1152=) c.4174G= (p.Val1392=) | |
| 17 | g.50185525C>G | CA400189904 | COL1A1 | c.4372G>C (p.Val1458Leu) c.4102G>C (p.Val1368Leu) c.3454G>C (p.Val1152Leu) c.4174G>C (p.Val1392Leu) | ClinVar dbSNP |
| 17 | g.50185525C>T | CA8644169 | COL1A1 | c.4372G>A (p.Val1458Ile) c.4102G>A (p.Val1368Ile) c.3454G>A (p.Val1152Ile) c.4174G>A (p.Val1392Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185526G>A | CA8644170 | COL1A1 | c.4371C>T (p.Asp1457=) c.4101C>T (p.Asp1367=) c.3453C>T (p.Asp1151=) c.4173C>T (p.Asp1391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185526G>C | CA8644171 | COL1A1 | c.4371C>G (p.Asp1457Glu) c.4101C>G (p.Asp1367Glu) c.3453C>G (p.Asp1151Glu) c.4173C>G (p.Asp1391Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185526G= | CA2263913689 | COL1A1 | c.4371C= (p.Asp1457=) c.4101C= (p.Asp1367=) c.3453C= (p.Asp1151=) c.4173C= (p.Asp1391=) | |
| 17 | g.50185526G>T | CA400189912 | COL1A1 | c.4371C>A (p.Asp1457Glu) c.4101C>A (p.Asp1367Glu) c.3453C>A (p.Asp1151Glu) c.4173C>A (p.Asp1391Glu) | |
| 17 | g.50185527T>A | CA400189916 | COL1A1 | c.4370A>T (p.Asp1457Val) c.4100A>T (p.Asp1367Val) c.3452A>T (p.Asp1151Val) c.4172A>T (p.Asp1391Val) | dbSNP gnomAD v4 |
| 17 | g.50185527T>C | CA400189919 | COL1A1 | c.4370A>G (p.Asp1457Gly) c.4100A>G (p.Asp1367Gly) c.3452A>G (p.Asp1151Gly) c.4172A>G (p.Asp1391Gly) | |
| 17 | g.50185527T>G | CA400189922 | COL1A1 | c.4370A>C (p.Asp1457Ala) c.4100A>C (p.Asp1367Ala) c.3452A>C (p.Asp1151Ala) c.4172A>C (p.Asp1391Ala) | |
| 17 | g.50185527T= | CA2263913690 | COL1A1 | c.4370A= (p.Asp1457=) c.4100A= (p.Asp1367=) c.3452A= (p.Asp1151=) c.4172A= (p.Asp1391=) | |
| 17 | g.50185528C>A | CA400189927 | COL1A1 | c.4369G>T (p.Asp1457Tyr) c.4099G>T (p.Asp1367Tyr) c.3451G>T (p.Asp1151Tyr) c.4171G>T (p.Asp1391Tyr) | |
| 17 | g.50185528C= | CA2263913691 | COL1A1 | c.4369G= (p.Asp1457=) c.4099G= (p.Asp1367=) c.3451G= (p.Asp1151=) c.4171G= (p.Asp1391=) | |
| 17 | g.50185528C>G | CA291542758 | COL1A1 | c.4369G>C (p.Asp1457His) c.4099G>C (p.Asp1367His) c.3451G>C (p.Asp1151His) c.4171G>C (p.Asp1391His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185528C>T | CA8644172 | COL1A1 | c.4369G>A (p.Asp1457Asn) c.4099G>A (p.Asp1367Asn) c.3451G>A (p.Asp1151Asn) c.4171G>A (p.Asp1391Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50185529G>A | CA8644173 | COL1A1 | c.4368C>T (p.Phe1456=) c.4098C>T (p.Phe1366=) c.3450C>T (p.Phe1150=) c.4170C>T (p.Phe1390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185529G>C | CA8644174 | COL1A1 | c.4368C>G (p.Phe1456Leu) c.4098C>G (p.Phe1366Leu) c.3450C>G (p.Phe1150Leu) c.4170C>G (p.Phe1390Leu) | ClinVar dbSNP ExAC |
| 17 | g.50185529G= | CA2263913692 | COL1A1 | c.4368C= (p.Phe1456=) c.4098C= (p.Phe1366=) c.3450C= (p.Phe1150=) c.4170C= (p.Phe1390=) | |
| 17 | g.50185529G>T | CA400189934 | COL1A1 | c.4368C>A (p.Phe1456Leu) c.4098C>A (p.Phe1366Leu) c.3450C>A (p.Phe1150Leu) c.4170C>A (p.Phe1390Leu) | gnomAD v4 |
| 17 | g.50185529_50185530del | CA2809756891 | COL1A1 | c.4367_4368del (p.Phe1456Ter) c.4097_4098del (p.Phe1366Ter) c.3449_3450del (p.Phe1150Ter) c.4169_4170del (p.Phe1390Ter) | |
| 17 | g.50185530A>C | CA400189939 | COL1A1 | c.4367T>G (p.Phe1456Cys) c.4097T>G (p.Phe1366Cys) c.3449T>G (p.Phe1150Cys) c.4169T>G (p.Phe1390Cys) | ClinVar |
| 17 | g.50185530A>G | CA400189943 | COL1A1 | c.4367T>C (p.Phe1456Ser) c.4097T>C (p.Phe1366Ser) c.3449T>C (p.Phe1150Ser) c.4169T>C (p.Phe1390Ser) | |
| 17 | g.50185530A>T | CA400189941 | COL1A1 | c.4367T>A (p.Phe1456Tyr) c.4097T>A (p.Phe1366Tyr) c.3449T>A (p.Phe1150Tyr) c.4169T>A (p.Phe1390Tyr) | |
| 17 | g.50185531A= | CA2263913693 | COL1A1 | c.4366T= (p.Phe1456=) c.4096T= (p.Phe1366=) c.3448T= (p.Phe1150=) c.4168T= (p.Phe1390=) | |
| 17 | g.50185531A>C | CA400189953 | COL1A1 | c.4366T>G (p.Phe1456Val) c.4096T>G (p.Phe1366Val) c.3448T>G (p.Phe1150Val) c.4168T>G (p.Phe1390Val) | |
| 17 | g.50185531A>G | CA400189958 | COL1A1 | c.4366T>C (p.Phe1456Leu) c.4096T>C (p.Phe1366Leu) c.3448T>C (p.Phe1150Leu) c.4168T>C (p.Phe1390Leu) | |
| 17 | g.50185531A>T | CA291542759 | COL1A1 | c.4366T>A (p.Phe1456Ile) c.4096T>A (p.Phe1366Ile) c.3448T>A (p.Phe1150Ile) c.4168T>A (p.Phe1390Ile) | dbSNP gnomAD v4 |
| 17 | g.50185532G>A | CA500842726 | COL1A1 | c.4365C>T (p.Gly1455=) c.4095C>T (p.Gly1365=) c.3447C>T (p.Gly1149=) c.4167C>T (p.Gly1389=) | |
| 17 | g.50185532G>C | CA500842724 | COL1A1 | c.4365C>G (p.Gly1455=) c.4095C>G (p.Gly1365=) c.3447C>G (p.Gly1149=) c.4167C>G (p.Gly1389=) | |
| 17 | g.50185532G= | CA2263913694 | COL1A1 | c.4365C= (p.Gly1455=) c.4095C= (p.Gly1365=) c.3447C= (p.Gly1149=) c.4167C= (p.Gly1389=) | |
| 17 | g.50185532G>T | CA500842722 | COL1A1 | c.4365C>A (p.Gly1455=) c.4095C>A (p.Gly1365=) c.3447C>A (p.Gly1149=) c.4167C>A (p.Gly1389=) | dbSNP |
| 17 | g.50185533C>A | CA400189963 | COL1A1 | c.4364G>T (p.Gly1455Val) c.4094G>T (p.Gly1365Val) c.3446G>T (p.Gly1149Val) c.4166G>T (p.Gly1389Val) | |
| 17 | g.50185533C= | CA2263913695 | COL1A1 | c.4364G= (p.Gly1455=) c.4094G= (p.Gly1365=) c.3446G= (p.Gly1149=) c.4166G= (p.Gly1389=) | |
| 17 | g.50185533C>G | CA400189966 | COL1A1 | c.4364G>C (p.Gly1455Ala) c.4094G>C (p.Gly1365Ala) c.3446G>C (p.Gly1149Ala) c.4166G>C (p.Gly1389Ala) | dbSNP gnomAD v4 |
| 17 | g.50185533C>T | CA400189973 | COL1A1 | c.4364G>A (p.Gly1455Asp) c.4094G>A (p.Gly1365Asp) c.3446G>A (p.Gly1149Asp) c.4166G>A (p.Gly1389Asp) | |
| 17 | g.50185533_50185558del | CA2695226404 | COL1A1 | c.4339_4364del (p.Val1447LeufsTer?) c.4069_4094del (p.Val1357LeufsTer?) c.3421_3446del (p.Val1141LeufsTer?) c.4141_4166del (p.Val1381LeufsTer?) | |
| 17 | g.50185534C>A | CA400189977 | COL1A1 | c.4363G>T (p.Gly1455Cys) c.4093G>T (p.Gly1365Cys) c.3445G>T (p.Gly1149Cys) c.4165G>T (p.Gly1389Cys) | |
| 17 | g.50185534C= | CA2263913697 | COL1A1 | c.4363G= (p.Gly1455=) c.4093G= (p.Gly1365=) c.3445G= (p.Gly1149=) c.4165G= (p.Gly1389=) | |
| 17 | g.50185534C>G | CA400189979 | COL1A1 | c.4363G>C (p.Gly1455Arg) c.4093G>C (p.Gly1365Arg) c.3445G>C (p.Gly1149Arg) c.4165G>C (p.Gly1389Arg) | dbSNP gnomAD v4 |
| 17 | g.50185534C>T | CA291542760 | COL1A1 | c.4363G>A (p.Gly1455Ser) c.4093G>A (p.Gly1365Ser) c.3445G>A (p.Gly1149Ser) c.4165G>A (p.Gly1389Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185534_50185539delinsCGAATT | CA2263913696 | COL1A1 | c.4358_4363delinsAATTCG (p.Glu1453=) c.4088_4093delinsAATTCG (p.Glu1363=) c.3440_3445delinsAATTCG (p.Glu1147=) c.4160_4165delinsAATTCG (p.Glu1387=) | |
| 17 | g.50185535G>A | CA8644175 | COL1A1 | c.4362C>T (p.Phe1454=) c.4092C>T (p.Phe1364=) c.3444C>T (p.Phe1148=) c.4164C>T (p.Phe1388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.50185535G>C | CA400189998 | COL1A1 | c.4362C>G (p.Phe1454Leu) c.4092C>G (p.Phe1364Leu) c.3444C>G (p.Phe1148Leu) c.4164C>G (p.Phe1388Leu) | |
| 17 | g.50185535G= | CA2263913698 | COL1A1 | c.4362C= (p.Phe1454=) c.4092C= (p.Phe1364=) c.3444C= (p.Phe1148=) c.4164C= (p.Phe1388=) | |
| 17 | g.50185535G>T | CA400189992 | COL1A1 | c.4362C>A (p.Phe1454Leu) c.4092C>A (p.Phe1364Leu) c.3444C>A (p.Phe1148Leu) c.4164C>A (p.Phe1388Leu) | |
| 17 | g.50185535_50185539del | CA281085 | COL1A1 | c.4358_4362del (p.Glu1453GlyfsTer?) c.4088_4092del (p.Glu1363GlyfsTer?) c.3440_3444del (p.Glu1147GlyfsTer?) c.4160_4164del (p.Glu1387GlyfsTer?) | ClinVar dbSNP |
| 17 | g.50185536A>C | CA400190003 | COL1A1 | c.4361T>G (p.Phe1454Cys) c.4091T>G (p.Phe1364Cys) c.3443T>G (p.Phe1148Cys) c.4163T>G (p.Phe1388Cys) | |
| 17 | g.50185536A>G | CA400190010 | COL1A1 | c.4361T>C (p.Phe1454Ser) c.4091T>C (p.Phe1364Ser) c.3443T>C (p.Phe1148Ser) c.4163T>C (p.Phe1388Ser) | ClinVar dbSNP |
| 17 | g.50185536A>T | CA400190011 | COL1A1 | c.4361T>A (p.Phe1454Tyr) c.4091T>A (p.Phe1364Tyr) c.3443T>A (p.Phe1148Tyr) c.4163T>A (p.Phe1388Tyr) | |
| 17 | g.50185536_50185540del | CA2695226407 | COL1A1 | c.4357_4361del (p.Glu1453ArgfsTer?) c.4087_4091del (p.Glu1363ArgfsTer?) c.3439_3443del (p.Glu1147ArgfsTer?) c.4159_4163del (p.Glu1387ArgfsTer?) | |
| 17 | g.50185537A>C | CA400190012 | COL1A1 | c.4360T>G (p.Phe1454Val) c.4090T>G (p.Phe1364Val) c.3442T>G (p.Phe1148Val) c.4162T>G (p.Phe1388Val) | |
| 17 | g.50185537A>G | CA400190013 | COL1A1 | c.4360T>C (p.Phe1454Leu) c.4090T>C (p.Phe1364Leu) c.3442T>C (p.Phe1148Leu) c.4162T>C (p.Phe1388Leu) | |
| 17 | g.50185537A>T | CA400190014 | COL1A1 | c.4360T>A (p.Phe1454Ile) c.4090T>A (p.Phe1364Ile) c.3442T>A (p.Phe1148Ile) c.4162T>A (p.Phe1388Ile) | |
| 17 | g.50185538T>A | CA400190019 | COL1A1 | c.4359A>T (p.Glu1453Asp) c.4089A>T (p.Glu1363Asp) c.3441A>T (p.Glu1147Asp) c.4161A>T (p.Glu1387Asp) | |
| 17 | g.50185538T>C | CA500842757 | COL1A1 | c.4359A>G (p.Glu1453=) c.4089A>G (p.Glu1363=) c.3441A>G (p.Glu1147=) c.4161A>G (p.Glu1387=) | |
| 17 | g.50185538T>G | CA400190022 | COL1A1 | c.4359A>C (p.Glu1453Asp) c.4089A>C (p.Glu1363Asp) c.3441A>C (p.Glu1147Asp) c.4161A>C (p.Glu1387Asp) | |
| 17 | g.50185539_50185542dup | CA2580094158 | COL1A1 | c.4356_4359dup (p.Phe1454GlyfsTer?) c.4086_4089dup (p.Phe1364GlyfsTer?) c.3438_3441dup (p.Phe1148GlyfsTer?) c.4158_4161dup (p.Phe1388GlyfsTer?) | ClinVar |
| 17 | g.50185539T>A | CA400190028 | COL1A1 | c.4358A>T (p.Glu1453Val) c.4088A>T (p.Glu1363Val) c.3440A>T (p.Glu1147Val) c.4160A>T (p.Glu1387Val) | |
| 17 | g.50185539T>C | CA400190030 | COL1A1 | c.4358A>G (p.Glu1453Gly) c.4088A>G (p.Glu1363Gly) c.3440A>G (p.Glu1147Gly) c.4160A>G (p.Glu1387Gly) | |
| 17 | g.50185539T>G | CA400190033 | COL1A1 | c.4358A>C (p.Glu1453Ala) c.4088A>C (p.Glu1363Ala) c.3440A>C (p.Glu1147Ala) c.4160A>C (p.Glu1387Ala) | |
| 17 | g.50185540C>A | CA400190039 | COL1A1 | c.4357G>T (p.Glu1453Ter) c.4087G>T (p.Glu1363Ter) c.3439G>T (p.Glu1147Ter) c.4159G>T (p.Glu1387Ter) | |
| 17 | g.50185540C>G | CA400190049 | COL1A1 | c.4357G>C (p.Glu1453Gln) c.4087G>C (p.Glu1363Gln) c.3439G>C (p.Glu1147Gln) c.4159G>C (p.Glu1387Gln) | |
| 17 | g.50185540C>T | CA400190037 | COL1A1 | c.4357G>A (p.Glu1453Lys) c.4087G>A (p.Glu1363Lys) c.3439G>A (p.Glu1147Lys) c.4159G>A (p.Glu1387Lys) | gnomAD v4 |
| 17 | g.50185541C>A | CA400190055 | COL1A1 | c.4356G>T (p.Gln1452His) c.4086G>T (p.Gln1362His) c.3438G>T (p.Gln1146His) c.4158G>T (p.Gln1386His) | |
| 17 | g.50185541C= | CA2263913699 | COL1A1 | c.4356G= (p.Gln1452=) c.4086G= (p.Gln1362=) c.3438G= (p.Gln1146=) c.4158G= (p.Gln1386=) | |
| 17 | g.50185541C>G | CA400190059 | COL1A1 | c.4356G>C (p.Gln1452His) c.4086G>C (p.Gln1362His) c.3438G>C (p.Gln1146His) c.4158G>C (p.Gln1386His) | |
| 17 | g.50185541C>T | CA8644176 | COL1A1 | c.4356G>A (p.Gln1452=) c.4086G>A (p.Gln1362=) c.3438G>A (p.Gln1146=) c.4158G>A (p.Gln1386=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.50185545_50185549del | CA2580094159 | COL1A1 | c.4352_4356del (p.Asp1451GlyfsTer?) c.4082_4086del (p.Asp1361GlyfsTer?) c.3434_3438del (p.Asp1145GlyfsTer?) c.4154_4158del (p.Asp1385GlyfsTer?) | ClinVar |
| 17 | g.50185542T>A | CA400190072 | COL1A1 | c.4355A>T (p.Gln1452Leu) c.4085A>T (p.Gln1362Leu) c.3437A>T (p.Gln1146Leu) c.4157A>T (p.Gln1386Leu) | |
| 17 | g.50185542T>C | CA400190073 | COL1A1 | c.4355A>G (p.Gln1452Arg) c.4085A>G (p.Gln1362Arg) c.3437A>G (p.Gln1146Arg) c.4157A>G (p.Gln1386Arg) | |
| 17 | g.50185542T>G | CA400190078 | COL1A1 | c.4355A>C (p.Gln1452Pro) c.4085A>C (p.Gln1362Pro) c.3437A>C (p.Gln1146Pro) c.4157A>C (p.Gln1386Pro) | |
| 17 | g.50185543G>A | CA400190082 | COL1A1 | c.4354C>T (p.Gln1452Ter) c.4084C>T (p.Gln1362Ter) c.3436C>T (p.Gln1146Ter) c.4156C>T (p.Gln1386Ter) | |
| 17 | g.50185543G>C | CA400190090 | COL1A1 | c.4354C>G (p.Gln1452Glu) c.4084C>G (p.Gln1362Glu) c.3436C>G (p.Gln1146Glu) c.4156C>G (p.Gln1386Glu) | |
| 17 | g.50185543G>T | CA400190085 | COL1A1 | c.4354C>A (p.Gln1452Lys) c.4084C>A (p.Gln1362Lys) c.3436C>A (p.Gln1146Lys) c.4156C>A (p.Gln1386Lys) | |
| 17 | g.50185544G>A | CA500842781 | COL1A1 | c.4353C>T (p.Asp1451=) c.4083C>T (p.Asp1361=) c.3435C>T (p.Asp1145=) c.4155C>T (p.Asp1385=) | gnomAD v4 |
| 17 | g.50185544G>C | CA400190096 | COL1A1 | c.4353C>G (p.Asp1451Glu) c.4083C>G (p.Asp1361Glu) c.3435C>G (p.Asp1145Glu) c.4155C>G (p.Asp1385Glu) | |
| 17 | g.50185544G>T | CA400190102 | COL1A1 | c.4353C>A (p.Asp1451Glu) c.4083C>A (p.Asp1361Glu) c.3435C>A (p.Asp1145Glu) c.4155C>A (p.Asp1385Glu) | |
| 17 | g.50185545T>A | CA400190106 | COL1A1 | c.4352A>T (p.Asp1451Val) c.4082A>T (p.Asp1361Val) c.3434A>T (p.Asp1145Val) c.4154A>T (p.Asp1385Val) | gnomAD v4 |
| 17 | g.50185545T>C | CA400190110 | COL1A1 | c.4352A>G (p.Asp1451Gly) c.4082A>G (p.Asp1361Gly) c.3434A>G (p.Asp1145Gly) c.4154A>G (p.Asp1385Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185545T>G | CA400190114 | COL1A1 | c.4352A>C (p.Asp1451Ala) c.4082A>C (p.Asp1361Ala) c.3434A>C (p.Asp1145Ala) c.4154A>C (p.Asp1385Ala) | |
| 17 | g.50185545T= | CA2263913700 | COL1A1 | c.4352A= (p.Asp1451=) c.4082A= (p.Asp1361=) c.3434A= (p.Asp1145=) c.4154A= (p.Asp1385=) | |
| 17 | g.50185545dup | CA2695226408 | COL1A1 | c.4352dup (p.Asp1451GlufsTer?) c.4082dup (p.Asp1361GlufsTer?) c.3434dup (p.Asp1145GlufsTer?) c.4154dup (p.Asp1385GlufsTer?) | |
| 17 | g.50185546C>A | CA400190135 | COL1A1 | c.4351G>T (p.Asp1451Tyr) c.4081G>T (p.Asp1361Tyr) c.3433G>T (p.Asp1145Tyr) c.4153G>T (p.Asp1385Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185546C= | CA2263913701 | COL1A1 | c.4351G= (p.Asp1451=) c.4081G= (p.Asp1361=) c.3433G= (p.Asp1145=) c.4153G= (p.Asp1385=) | |
| 17 | g.50185546C>G | CA400190132 | COL1A1 | c.4351G>C (p.Asp1451His) c.4081G>C (p.Asp1361His) c.3433G>C (p.Asp1145His) c.4153G>C (p.Asp1385His) | |
| 17 | g.50185546C>T | CA400190128 | COL1A1 | c.4351G>A (p.Asp1451Asn) c.4081G>A (p.Asp1361Asn) c.3433G>A (p.Asp1145Asn) c.4153G>A (p.Asp1385Asn) | |
| 17 | g.50185547T>A | CA500842801 | COL1A1 | c.4350A>T (p.Pro1450=) c.4080A>T (p.Pro1360=) c.3432A>T (p.Pro1144=) c.4152A>T (p.Pro1384=) | |
| 17 | g.50185547T>C | CA500842800 | COL1A1 | c.4350A>G (p.Pro1450=) c.4080A>G (p.Pro1360=) c.3432A>G (p.Pro1144=) c.4152A>G (p.Pro1384=) | gnomAD v4 |
| 17 | g.50185547T>G | CA500842793 | COL1A1 | c.4350A>C (p.Pro1450=) c.4080A>C (p.Pro1360=) c.3432A>C (p.Pro1144=) c.4152A>C (p.Pro1384=) | |
| 17 | g.50185548G>A | CA400190146 | COL1A1 | c.4349C>T (p.Pro1450Leu) c.4079C>T (p.Pro1360Leu) c.3431C>T (p.Pro1144Leu) c.4151C>T (p.Pro1384Leu) | gnomAD v4 |
| 17 | g.50185548G>C | CA400190143 | COL1A1 | c.4349C>G (p.Pro1450Arg) c.4079C>G (p.Pro1360Arg) c.3431C>G (p.Pro1144Arg) c.4151C>G (p.Pro1384Arg) | |
| 17 | g.50185548G>T | CA400190148 | COL1A1 | c.4349C>A (p.Pro1450Gln) c.4079C>A (p.Pro1360Gln) c.3431C>A (p.Pro1144Gln) c.4151C>A (p.Pro1384Gln) | |
| 17 | g.50185549G>A | CA400190155 | COL1A1 | c.4348C>T (p.Pro1450Ser) c.4078C>T (p.Pro1360Ser) c.3430C>T (p.Pro1144Ser) c.4150C>T (p.Pro1384Ser) | |
| 17 | g.50185549G>C | CA400190170 | COL1A1 | c.4348C>G (p.Pro1450Ala) c.4078C>G (p.Pro1360Ala) c.3430C>G (p.Pro1144Ala) c.4150C>G (p.Pro1384Ala) | |
| 17 | g.50185549G>T | CA400190169 | COL1A1 | c.4348C>A (p.Pro1450Thr) c.4078C>A (p.Pro1360Thr) c.3430C>A (p.Pro1144Thr) c.4150C>A (p.Pro1384Thr) | |
| 17 | g.50185549_50185572delinsGGGCACCAACGTCCAAGGGGGCCA | CA2263913702 | COL1A1 | c.4325_4348delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1442=) c.4055_4078delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1352=) c.3407_3430delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1136=) c.4127_4150delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1376=) | |
| 17 | g.50185550G>A | CA291542761 | COL1A1 | c.4347C>T (p.Ala1449=) c.4077C>T (p.Ala1359=) c.3429C>T (p.Ala1143=) c.4149C>T (p.Ala1383=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185550G>C | CA500842812 | COL1A1 | c.4347C>G (p.Ala1449=) c.4077C>G (p.Ala1359=) c.3429C>G (p.Ala1143=) c.4149C>G (p.Ala1383=) | |
| 17 | g.50185550G= | CA2263913703 | COL1A1 | c.4347C= (p.Ala1449=) c.4077C= (p.Ala1359=) c.3429C= (p.Ala1143=) c.4149C= (p.Ala1383=) | |
| 17 | g.50185550G>T | CA500842814 | COL1A1 | c.4347C>A (p.Ala1449=) c.4077C>A (p.Ala1359=) c.3429C>A (p.Ala1143=) c.4149C>A (p.Ala1383=) | dbSNP |
| 17 | g.50185550_50185572del | CA916080908 | COL1A1 | c.4325_4347del (p.Val1442AlafsTer?) c.4055_4077del (p.Val1352AlafsTer?) c.3407_3429del (p.Val1136AlafsTer?) c.4127_4149del (p.Val1376AlafsTer?) | ClinVar dbSNP |
| 17 | g.50185551G>A | CA400190173 | COL1A1 | c.4346C>T (p.Ala1449Val) c.4076C>T (p.Ala1359Val) c.3428C>T (p.Ala1143Val) c.4148C>T (p.Ala1383Val) | gnomAD v4 |
| 17 | g.50185551G>C | CA400190176 | COL1A1 | c.4346C>G (p.Ala1449Gly) c.4076C>G (p.Ala1359Gly) c.3428C>G (p.Ala1143Gly) c.4148C>G (p.Ala1383Gly) | |
| 17 | g.50185551G= | CA2263913704 | COL1A1 | c.4346C= (p.Ala1449=) c.4076C= (p.Ala1359=) c.3428C= (p.Ala1143=) c.4148C= (p.Ala1383=) | |
| 17 | g.50185551G>T | CA400190180 | COL1A1 | c.4346C>A (p.Ala1449Asp) c.4076C>A (p.Ala1359Asp) c.3428C>A (p.Ala1143Asp) c.4148C>A (p.Ala1383Asp) | dbSNP COSMIC |
| 17 | g.50185552C>A | CA400190185 | COL1A1 | c.4345G>T (p.Ala1449Ser) c.4075G>T (p.Ala1359Ser) c.3427G>T (p.Ala1143Ser) c.4147G>T (p.Ala1383Ser) | gnomAD v4 |
| 17 | g.50185552C>G | CA400190191 | COL1A1 | c.4345G>C (p.Ala1449Pro) c.4075G>C (p.Ala1359Pro) c.3427G>C (p.Ala1143Pro) c.4147G>C (p.Ala1383Pro) | |
| 17 | g.50185552C>T | CA400190195 | COL1A1 | c.4345G>A (p.Ala1449Thr) c.4075G>A (p.Ala1359Thr) c.3427G>A (p.Ala1143Thr) c.4147G>A (p.Ala1383Thr) | gnomAD v4 |
| 17 | g.50185553A>C | CA500842827 | COL1A1 | c.4344T>G (p.Gly1448=) c.4074T>G (p.Gly1358=) c.3426T>G (p.Gly1142=) c.4146T>G (p.Gly1382=) | |
| 17 | g.50185553A>G | CA500842830 | COL1A1 | c.4344T>C (p.Gly1448=) c.4074T>C (p.Gly1358=) c.3426T>C (p.Gly1142=) c.4146T>C (p.Gly1382=) | |
| 17 | g.50185553A>T | CA500842829 | COL1A1 | c.4344T>A (p.Gly1448=) c.4074T>A (p.Gly1358=) c.3426T>A (p.Gly1142=) c.4146T>A (p.Gly1382=) |