Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50185428G>T | CA2638704210 | COL1A1 | c.*74C>A (n.*74C>A) | gnomAD v4 |
17 | g.50185429G>A | CA2263913614 | COL1A1 | c.*73C>T (n.*73C>T) | dbSNP |
17 | g.50185429G= | CA2263913613 | COL1A1 | c.*73C= (n.*73C=) | |
17 | g.50185429G>T | CA1139665683 | COL1A1 | c.*73C>A (n.*73C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.50185430G>A | CA2638704213 | COL1A1 | c.*72C>T (n.*72C>T) | gnomAD v4 |
17 | g.50185430G>T | CA2638704214 | COL1A1 | c.*72C>A (n.*72C>A) | gnomAD v4 |
17 | g.50185433G>T | CA2638704215 | COL1A1 | c.*69C>A (n.*69C>A) | gnomAD v4 |
17 | g.50185434C= | CA2263913615 | COL1A1 | c.*68G= (n.*68G=) | |
17 | g.50185434C>T | CA984452114 | COL1A1 | c.*68G>A (n.*68G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185436T>C | CA2571494380 | COL1A1 | c.*66A>G (n.*66A>G) | gnomAD v4 |
17 | g.50185436T>G | CA2263913617 | COL1A1 | c.*66A>C (n.*66A>C) | dbSNP |
17 | g.50185436T= | CA2263913616 | COL1A1 | c.*66A= (n.*66A=) | |
17 | g.50185437G>A | CA2576316965 | COL1A1 | c.*65C>T (n.*65C>T) | |
17 | g.50185437G>C | CA2263913619 | COL1A1 | c.*65C>G (n.*65C>G) | dbSNP gnomAD v4 |
17 | g.50185437G= | CA2263913618 | COL1A1 | c.*65C= (n.*65C=) | |
17 | g.50185437G>T | CA2576316966 | COL1A1 | c.*65C>A (n.*65C>A) | gnomAD v4 |
17 | g.50185441G>C | CA772779894 | COL1A1 | c.*61C>G (n.*61C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185441G= | CA2263913620 | COL1A1 | c.*61C= (n.*61C=) | |
17 | g.50185441G>T | CA2638704217 | COL1A1 | c.*61C>A (n.*61C>A) | gnomAD v4 |
17 | g.50185444T>C | CA2638704218 | COL1A1 | c.*58A>G (n.*58A>G) | gnomAD v4 |
17 | g.50185444_50185447delinsTCCG | CA2263913621 | COL1A1 | c.*55_*58delinsCGGA (n.*55_*58delinsCGGA) | |
17 | g.50185445C>A | CA291542747 | COL1A1 | c.*57G>T (n.*57G>T) | dbSNP |
17 | g.50185445C= | CA2263913623 | COL1A1 | c.*57G= (n.*57G=) | |
17 | g.50185445C>G | CA914184100 | COL1A1 | c.*57G>C (n.*57G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50185445_50185447del | CA2263913622 | COL1A1 | c.*55_*57del (n.*55_*57del) | dbSNP |
17 | g.50185446C= | CA2263913624 | COL1A1 | c.*56G= (n.*56G=) | |
17 | g.50185446C>T | CA291542748 | COL1A1 | c.*56G>A (n.*56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50185447G>A | CA291542750 | COL1A1 | c.*55C>T (n.*55C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50185447G>C | CA291542749 | COL1A1 | c.*55C>G (n.*55C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50185447G= | CA2263913625 | COL1A1 | c.*55C= (n.*55C=) | |
17 | g.50185447G>T | CA2638704220 | COL1A1 | c.*55C>A (n.*55C>A) | gnomAD v4 |
17 | g.50185448G>A | CA2638704221 | COL1A1 | c.*54C>T (n.*54C>T) | gnomAD v4 |
17 | g.50185448G>T | CA2638704222 | COL1A1 | c.*54C>A (n.*54C>A) | gnomAD v4 |
17 | g.50185449G>T | CA2638704223 | COL1A1 | c.*53C>A (n.*53C>A) | gnomAD v4 |
17 | g.50185450T>A | CA2263913627 | COL1A1 | c.*52A>T (n.*52A>T) | dbSNP gnomAD v4 |
17 | g.50185450T>C | CA2638704224 | COL1A1 | c.*52A>G (n.*52A>G) | gnomAD v4 |
17 | g.50185450T>G | CA2263913626 | COL1A1 | c.*52A>C (n.*52A>C) | dbSNP gnomAD v4 |
17 | g.50185450T= | CA2263913628 | COL1A1 | c.*52A= (n.*52A=) | |
17 | g.50185451del | CA2638704226 | COL1A1 | c.*52del (n.*52del) | gnomAD v4 |
17 | g.50185451T>A | CA2263913631 | COL1A1 | c.*51A>T (n.*51A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185451T>G | CA984452122 | COL1A1 | c.*51A>C (n.*51A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185451T= | CA2263913630 | COL1A1 | c.*51A= (n.*51A=) | |
17 | g.50185451_50185452delinsTG | CA2263913629 | COL1A1 | c.*50_*51delinsCA (n.*50_*51delinsCA) | |
17 | g.50185452G>C | CA2576316967 | COL1A1 | c.*50C>G (n.*50C>G) | |
17 | g.50185452G= | CA2263913632 | COL1A1 | c.*50C= (n.*50C=) | |
17 | g.50185452G>T | CA772779905 | COL1A1 | c.*50C>A (n.*50C>A) | dbSNP gnomAD v4 |
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=) |