Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189008961G>A | CA006671 | COL3A1 | c.3464G>A (p.Gly1155Glu) c.3563G>A (p.Gly1188Glu) c.2654G>A (p.Gly885Glu) n.660G>A | ClinVar dbSNP |
2 | g.189008961G>C | CA349846643 | COL3A1 | c.3464G>C (p.Gly1155Ala) c.3563G>C (p.Gly1188Ala) c.2654G>C (p.Gly885Ala) n.660G>C | |
2 | g.189008961G= | CA1315405493 | COL3A1 | c.3464G= (p.Gly1155=) c.3563G= (p.Gly1188=) c.2654G= (p.Gly885=) n.660G= | |
2 | g.189008961G>T | CA349846644 | COL3A1 | c.3464G>T (p.Gly1155Val) c.3563G>T (p.Gly1188Val) c.2654G>T (p.Gly885Val) n.660G>T | |
2 | g.189008962A>C | CA430406548 | COL3A1 | c.3465A>C (p.Gly1155=) c.3564A>C (p.Gly1188=) c.2655A>C (p.Gly885=) n.661A>C | gnomAD v4 |
2 | g.189008962A>G | CA430406549 | COL3A1 | c.3465A>G (p.Gly1155=) c.3564A>G (p.Gly1188=) c.2655A>G (p.Gly885=) n.661A>G | |
2 | g.189008962A>T | CA430406550 | COL3A1 | c.3465A>T (p.Gly1155=) c.3564A>T (p.Gly1188=) c.2655A>T (p.Gly885=) n.661A>T | |
2 | g.189008963C>A | CA349846645 | COL3A1 | c.3466C>A (p.Pro1156Thr) c.3565C>A (p.Pro1189Thr) c.2656C>A (p.Pro886Thr) n.662C>A | |
2 | g.189008963C= | CA1315405494 | COL3A1 | c.3466C= (p.Pro1156=) c.3565C= (p.Pro1189=) c.2656C= (p.Pro886=) n.662C= | |
2 | g.189008963C>G | CA349846646 | COL3A1 | c.3466C>G (p.Pro1156Ala) c.3565C>G (p.Pro1189Ala) c.2656C>G (p.Pro886Ala) n.662C>G | ClinVar |
2 | g.189008963C>T | CA349846647 | COL3A1 | c.3466C>T (p.Pro1156Ser) c.3565C>T (p.Pro1189Ser) c.2656C>T (p.Pro886Ser) n.662C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008964C>A | CA349846648 | COL3A1 | c.3467C>A (p.Pro1156His) c.3566C>A (p.Pro1189His) c.2657C>A (p.Pro886His) n.663C>A | gnomAD v4 |
2 | g.189008964C= | CA1315405495 | COL3A1 | c.3467C= (p.Pro1156=) c.3566C= (p.Pro1189=) c.2657C= (p.Pro886=) n.663C= | |
2 | g.189008964C>G | CA349846649 | COL3A1 | c.3467C>G (p.Pro1156Arg) c.3566C>G (p.Pro1189Arg) c.2657C>G (p.Pro886Arg) n.663C>G | |
2 | g.189008964C>T | CA076189 | COL3A1 | c.3467C>T (p.Pro1156Leu) c.3566C>T (p.Pro1189Leu) c.2657C>T (p.Pro886Leu) n.663C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008965T>A | CA430406551 | COL3A1 | c.3468T>A (p.Pro1156=) c.3567T>A (p.Pro1189=) c.2658T>A (p.Pro886=) n.664T>A | |
2 | g.189008965T>C | CA430406552 | COL3A1 | c.3468T>C (p.Pro1156=) c.3567T>C (p.Pro1189=) c.2658T>C (p.Pro886=) n.664T>C | |
2 | g.189008965T>G | CA430406553 | COL3A1 | c.3468T>G (p.Pro1156=) c.3567T>G (p.Pro1189=) c.2658T>G (p.Pro886=) n.664T>G | |
2 | g.189008966C>A | CA349846650 | COL3A1 | c.3469C>A (p.Pro1157Thr) c.3568C>A (p.Pro1190Thr) c.2659C>A (p.Pro887Thr) n.665C>A | |
2 | g.189008966C>G | CA349846652 | COL3A1 | c.3469C>G (p.Pro1157Ala) c.3568C>G (p.Pro1190Ala) c.2659C>G (p.Pro887Ala) n.665C>G | |
2 | g.189008966C>T | CA349846651 | COL3A1 | c.3469C>T (p.Pro1157Ser) c.3568C>T (p.Pro1190Ser) c.2659C>T (p.Pro887Ser) n.665C>T | gnomAD v4 COSMIC COSMIC |
2 | g.189008972_189008980del | CA2573051822 | COL3A1 | c.3475_3483del (p.Ala1159_Gly1161del) c.3574_3582del (p.Ala1192_Gly1194del) c.2665_2673del (p.Ala889_Gly891del) n.671_679del | ClinVar dbSNP gnomAD v4 |
2 | g.189008967C>A | CA349846653 | COL3A1 | c.3470C>A (p.Pro1157His) c.3569C>A (p.Pro1190His) c.2660C>A (p.Pro887His) n.666C>A | |
2 | g.189008967C= | CA1315405496 | COL3A1 | c.3470C= (p.Pro1157=) c.3569C= (p.Pro1190=) c.2660C= (p.Pro887=) n.666C= | |
2 | g.189008967C>G | CA349846654 | COL3A1 | c.3470C>G (p.Pro1157Arg) c.3569C>G (p.Pro1190Arg) c.2660C>G (p.Pro887Arg) n.666C>G | dbSNP |
2 | g.189008967C>T | CA349846655 | COL3A1 | c.3470C>T (p.Pro1157Leu) c.3569C>T (p.Pro1190Leu) c.2660C>T (p.Pro887Leu) n.666C>T | |
2 | g.189008968T>A | CA430406554 | COL3A1 | c.3471T>A (p.Pro1157=) c.3570T>A (p.Pro1190=) c.2661T>A (p.Pro887=) n.667T>A | ClinVar dbSNP gnomAD v4 |
2 | g.189008968T>C | CA430406555 | COL3A1 | c.3471T>C (p.Pro1157=) c.3570T>C (p.Pro1190=) c.2661T>C (p.Pro887=) n.667T>C | ClinVar dbSNP gnomAD v4 |
2 | g.189008968T>G | CA430406556 | COL3A1 | c.3471T>G (p.Pro1157=) c.3570T>G (p.Pro1190=) c.2661T>G (p.Pro887=) n.667T>G | |
2 | g.189008968T= | CA1315405497 | COL3A1 | c.3471T= (p.Pro1157=) c.3570T= (p.Pro1190=) c.2661T= (p.Pro887=) n.667T= | |
2 | g.189008969G>A | CA349846656 | COL3A1 | c.3472G>A (p.Gly1158Ser) c.3571G>A (p.Gly1191Ser) c.2662G>A (p.Gly888Ser) n.668G>A | |
2 | g.189008969G>C | CA349846657 | COL3A1 | c.3472G>C (p.Gly1158Arg) c.3571G>C (p.Gly1191Arg) c.2662G>C (p.Gly888Arg) n.668G>C | |
2 | g.189008969G>T | CA349846658 | COL3A1 | c.3472G>T (p.Gly1158Cys) c.3571G>T (p.Gly1191Cys) c.2662G>T (p.Gly888Cys) n.668G>T | |
2 | g.189008970G>A | CA006679 | COL3A1 | c.3473G>A (p.Gly1158Asp) c.3572G>A (p.Gly1191Asp) c.2663G>A (p.Gly888Asp) n.669G>A | ClinVar dbSNP |
2 | g.189008970G>C | CA349846659 | COL3A1 | c.3473G>C (p.Gly1158Ala) c.3572G>C (p.Gly1191Ala) c.2663G>C (p.Gly888Ala) n.669G>C | |
2 | g.189008970G= | CA1315405498 | COL3A1 | c.3473G= (p.Gly1158=) c.3572G= (p.Gly1191=) c.2663G= (p.Gly888=) n.669G= | |
2 | g.189008970G>T | CA349846660 | COL3A1 | c.3473G>T (p.Gly1158Val) c.3572G>T (p.Gly1191Val) c.2663G>T (p.Gly888Val) n.669G>T | |
2 | g.189008970_189008971insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA | CA2753584204 | COL3A1 | c.3473_3474insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala1159ProfsTer?) c.3572_3573insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala1192ProfsTer?) c.2663_2664insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala889ProfsTer?) n.669_670insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA | |
2 | g.189008971T>A | CA430406557 | COL3A1 | c.3474T>A (p.Gly1158=) c.3573T>A (p.Gly1191=) c.2664T>A (p.Gly888=) n.670T>A | |
2 | g.189008971T>C | CA430406558 | COL3A1 | c.3474T>C (p.Gly1158=) c.3573T>C (p.Gly1191=) c.2664T>C (p.Gly888=) n.670T>C | |
2 | g.189008971T>G | CA430406559 | COL3A1 | c.3474T>G (p.Gly1158=) c.3573T>G (p.Gly1191=) c.2664T>G (p.Gly888=) n.670T>G | |
2 | g.189008972G>A | CA076192 | COL3A1 | c.3475G>A (p.Ala1159Thr) c.3574G>A (p.Ala1192Thr) c.2665G>A (p.Ala889Thr) n.671G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008972G>C | CA349846662 | COL3A1 | c.3475G>C (p.Ala1159Pro) c.3574G>C (p.Ala1192Pro) c.2665G>C (p.Ala889Pro) n.671G>C | |
2 | g.189008972G= | CA1315405499 | COL3A1 | c.3475G= (p.Ala1159=) c.3574G= (p.Ala1192=) c.2665G= (p.Ala889=) n.671G= | |
2 | g.189008972G>T | CA349846661 | COL3A1 | c.3475G>T (p.Ala1159Ser) c.3574G>T (p.Ala1192Ser) c.2665G>T (p.Ala889Ser) n.671G>T | |
2 | g.189008972_189008973insTT | CA2517476648 | COL3A1 | c.3475_3476insTT (p.Ala1159ValfsTer?) c.3574_3575insTT (p.Ala1192ValfsTer?) c.2665_2666insTT (p.Ala889ValfsTer?) n.671_672insTT | |
2 | g.189008973C>A | CA349846663 | COL3A1 | c.3476C>A (p.Ala1159Asp) c.3575C>A (p.Ala1192Asp) c.2666C>A (p.Ala889Asp) n.672C>A | gnomAD v4 |
2 | g.189008973C= | CA1315405500 | COL3A1 | c.3476C= (p.Ala1159=) c.3575C= (p.Ala1192=) c.2666C= (p.Ala889=) n.672C= | |
2 | g.189008973C>G | CA349846664 | COL3A1 | c.3476C>G (p.Ala1159Gly) c.3575C>G (p.Ala1192Gly) c.2666C>G (p.Ala889Gly) n.672C>G | |
2 | g.189008973C>T | CA349846665 | COL3A1 | c.3476C>T (p.Ala1159Val) c.3575C>T (p.Ala1192Val) c.2666C>T (p.Ala889Val) n.672C>T | ClinVar gnomAD v4 |
2 | g.189008973_189008974insAGGG | CA006688 | COL3A1 | c.3476_3477insAGGG (p.Pro1160GlyfsTer20) c.3575_3576insAGGG (p.Pro1193GlyfsTer20) c.2666_2667insAGGG (p.Pro890GlyfsTer20) n.672_673insAGGG | ClinVar dbSNP |
2 | g.189008974C>A | CA430406560 | COL3A1 | c.3477C>A (p.Ala1159=) c.3576C>A (p.Ala1192=) c.2667C>A (p.Ala889=) n.673C>A | |
2 | g.189008974C= | CA1315405501 | COL3A1 | c.3477C= (p.Ala1159=) c.3576C= (p.Ala1192=) c.2667C= (p.Ala889=) n.673C= | |
2 | g.189008974C>G | CA430406561 | COL3A1 | c.3477C>G (p.Ala1159=) c.3576C>G (p.Ala1192=) c.2667C>G (p.Ala889=) n.673C>G | ClinVar dbSNP |
2 | g.189008974C>T | CA076194 | COL3A1 | c.3477C>T (p.Ala1159=) c.3576C>T (p.Ala1192=) c.2667C>T (p.Ala889=) n.673C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008974_189008975insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA | CA2503472779 | COL3A1 | c.3477_3478insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro1160TrpfsTer2) c.3576_3577insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro1193TrpfsTer2) c.2667_2668insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro890TrpfsTer2) n.673_674insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA | |
2 | g.189008975C>A | CA349846668 | COL3A1 | c.3478C>A (p.Pro1160Thr) c.3577C>A (p.Pro1193Thr) c.2668C>A (p.Pro890Thr) n.674C>A | COSMIC COSMIC |
2 | g.189008975C= | CA1315405502 | COL3A1 | c.3478C= (p.Pro1160=) c.3577C= (p.Pro1193=) c.2668C= (p.Pro890=) n.674C= | |
2 | g.189008975C>G | CA349846667 | COL3A1 | c.3478C>G (p.Pro1160Ala) c.3577C>G (p.Pro1193Ala) c.2668C>G (p.Pro890Ala) n.674C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189008975C>T | CA349846666 | COL3A1 | c.3478C>T (p.Pro1160Ser) c.3577C>T (p.Pro1193Ser) c.2668C>T (p.Pro890Ser) n.674C>T | ClinVar dbSNP |
2 | g.189008976C>A | CA349846669 | COL3A1 | c.3479C>A (p.Pro1160His) c.3578C>A (p.Pro1193His) c.2669C>A (p.Pro890His) n.675C>A | |
2 | g.189008976C>G | CA349846670 | COL3A1 | c.3479C>G (p.Pro1160Arg) c.3578C>G (p.Pro1193Arg) c.2669C>G (p.Pro890Arg) n.675C>G | |
2 | g.189008976C>T | CA349846671 | COL3A1 | c.3479C>T (p.Pro1160Leu) c.3578C>T (p.Pro1193Leu) c.2669C>T (p.Pro890Leu) n.675C>T | |
2 | g.189008977T>A | CA430406562 | COL3A1 | c.3480T>A (p.Pro1160=) c.3579T>A (p.Pro1193=) c.2670T>A (p.Pro890=) n.676T>A | |
2 | g.189008977T>C | CA430406563 | COL3A1 | c.3480T>C (p.Pro1160=) c.3579T>C (p.Pro1193=) c.2670T>C (p.Pro890=) n.676T>C | |
2 | g.189008977T>G | CA430406564 | COL3A1 | c.3480T>G (p.Pro1160=) c.3579T>G (p.Pro1193=) c.2670T>G (p.Pro890=) n.676T>G | |
2 | g.189008978G>A | CA349846672 | COL3A1 | c.3481G>A (p.Gly1161Ser) c.3580G>A (p.Gly1194Ser) c.2671G>A (p.Gly891Ser) n.677G>A | |
2 | g.189008978G>C | CA349846673 | COL3A1 | c.3481G>C (p.Gly1161Arg) c.3580G>C (p.Gly1194Arg) c.2671G>C (p.Gly891Arg) n.677G>C | ClinVar |
2 | g.189008978G>T | CA349846674 | COL3A1 | c.3481G>T (p.Gly1161Cys) c.3580G>T (p.Gly1194Cys) c.2671G>T (p.Gly891Cys) n.677G>T | |
2 | g.189008979G>A | CA349846675 | COL3A1 | c.3482G>A (p.Gly1161Asp) c.3581G>A (p.Gly1194Asp) c.2672G>A (p.Gly891Asp) n.678G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.189008979G>C | CA349846677 | COL3A1 | c.3482G>C (p.Gly1161Ala) c.3581G>C (p.Gly1194Ala) c.2672G>C (p.Gly891Ala) n.678G>C | |
2 | g.189008979G= | CA1315405503 | COL3A1 | c.3482G= (p.Gly1161=) c.3581G= (p.Gly1194=) c.2672G= (p.Gly891=) n.678G= | |
2 | g.189008979G>T | CA349846676 | COL3A1 | c.3482G>T (p.Gly1161Val) c.3581G>T (p.Gly1194Val) c.2672G>T (p.Gly891Val) n.678G>T | |
2 | g.189008979_189008980insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC | CA2542355045 | COL3A1 | c.3482_3483insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC (p.Gly1161_Pro1162insLysAspGlyLysProPheThrTyrAspMetPheThrSerGluGlnLeuGluAlaLeuLysGlyProLysGlyGluProGlyThr) c.3581_3582insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC (p.Gly1194_Pro1195insLysAspGlyLysProPheThrTyrAspMetPheThrSerGluGlnLeuGluAlaLeuLysGlyProLysGlyGluProGlyThr) c.2672_2673insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC (p.Gly891_Pro892insLysAspGlyLysProPheThrTyrAspMetPheThrSerGluGlnLeuGluAlaLeuLysGlyProLysGlyGluProGlyThr) n.678_679insCAAAGATGGAAAGCCATTTACTTATGACATGTTCACATCGGAGCAATTAGAGGCCTTAAAAGGACCTAAAGGTGAACCTGGAAC | |
2 | g.189008980T>A | CA430406565 | COL3A1 | c.3483T>A (p.Gly1161=) c.3582T>A (p.Gly1194=) c.2673T>A (p.Gly891=) n.679T>A | |
2 | g.189008980T>C | CA430406566 | COL3A1 | c.3483T>C (p.Gly1161=) c.3582T>C (p.Gly1194=) c.2673T>C (p.Gly891=) n.679T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008980T>G | CA430406567 | COL3A1 | c.3483T>G (p.Gly1161=) c.3582T>G (p.Gly1194=) c.2673T>G (p.Gly891=) n.679T>G | |
2 | g.189008980T= | CA1315405504 | COL3A1 | c.3483T= (p.Gly1161=) c.3582T= (p.Gly1194=) c.2673T= (p.Gly891=) n.679T= | |
2 | g.189008981C>A | CA349846678 | COL3A1 | c.3484C>A (p.Pro1162Thr) c.3583C>A (p.Pro1195Thr) c.2674C>A (p.Pro892Thr) n.680C>A | |
2 | g.189008981C= | CA1315405505 | COL3A1 | c.3484C= (p.Pro1162=) c.3583C= (p.Pro1195=) c.2674C= (p.Pro892=) n.680C= | |
2 | g.189008981C>G | CA349846679 | COL3A1 | c.3484C>G (p.Pro1162Ala) c.3583C>G (p.Pro1195Ala) c.2674C>G (p.Pro892Ala) n.680C>G | |
2 | g.189008981C>T | CA076195 | COL3A1 | c.3484C>T (p.Pro1162Ser) c.3583C>T (p.Pro1195Ser) c.2674C>T (p.Pro892Ser) n.680C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.189008982C>A | CA349846680 | COL3A1 | c.3485C>A (p.Pro1162His) c.3584C>A (p.Pro1195His) c.2675C>A (p.Pro892His) n.681C>A | |
2 | g.189008982C>G | CA349846681 | COL3A1 | c.3485C>G (p.Pro1162Arg) c.3584C>G (p.Pro1195Arg) c.2675C>G (p.Pro892Arg) n.681C>G | |
2 | g.189008982C>T | CA349846682 | COL3A1 | c.3485C>T (p.Pro1162Leu) c.3584C>T (p.Pro1195Leu) c.2675C>T (p.Pro892Leu) n.681C>T | COSMIC COSMIC |
2 | g.189008983T>A | CA430406568 | COL3A1 | c.3486T>A (p.Pro1162=) c.3585T>A (p.Pro1195=) c.2676T>A (p.Pro892=) n.682T>A | |
2 | g.189008983T>C | CA430406569 | COL3A1 | c.3486T>C (p.Pro1162=) c.3585T>C (p.Pro1195=) c.2676T>C (p.Pro892=) n.682T>C | |
2 | g.189008983T>G | CA430406570 | COL3A1 | c.3486T>G (p.Pro1162=) c.3585T>G (p.Pro1195=) c.2676T>G (p.Pro892=) n.682T>G | COSMIC COSMIC |
2 | g.189008984T>A | CA349846683 | COL3A1 | c.3487T>A (p.Cys1163Ser) c.3586T>A (p.Cys1196Ser) c.2677T>A (p.Cys893Ser) n.683T>A | |
2 | g.189008984T>C | CA349846684 | COL3A1 | c.3487T>C (p.Cys1163Arg) c.3586T>C (p.Cys1196Arg) c.2677T>C (p.Cys893Arg) n.683T>C | |
2 | g.189008984T>G | CA349846685 | COL3A1 | c.3487T>G (p.Cys1163Gly) c.3586T>G (p.Cys1196Gly) c.2677T>G (p.Cys893Gly) n.683T>G | |
2 | g.189008985G>A | CA349846686 | COL3A1 | c.3488G>A (p.Cys1163Tyr) c.3587G>A (p.Cys1196Tyr) c.2678G>A (p.Cys893Tyr) n.684G>A | |
2 | g.189008985G>C | CA349846687 | COL3A1 | c.3488G>C (p.Cys1163Ser) c.3587G>C (p.Cys1196Ser) c.2678G>C (p.Cys893Ser) n.684G>C | |
2 | g.189008985G>T | CA349846688 | COL3A1 | c.3488G>T (p.Cys1163Phe) c.3587G>T (p.Cys1196Phe) c.2678G>T (p.Cys893Phe) n.684G>T | COSMIC COSMIC |
2 | g.189008986C>A | CA349846690 | COL3A1 | c.3489C>A (p.Cys1163Ter) c.3588C>A (p.Cys1196Ter) c.2679C>A (p.Cys893Ter) n.685C>A | |
2 | g.189008986C= | CA1315405506 | COL3A1 | c.3489C= (p.Cys1163=) c.3588C= (p.Cys1196=) c.2679C= (p.Cys893=) n.685C= | |
2 | g.189008986C>G | CA349846689 | COL3A1 | c.3489C>G (p.Cys1163Trp) c.3588C>G (p.Cys1196Trp) c.2679C>G (p.Cys893Trp) n.685C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008986C>T | CA430406571 | COL3A1 | c.3489C>T (p.Cys1163=) c.3588C>T (p.Cys1196=) c.2679C>T (p.Cys893=) n.685C>T | |
2 | g.189008987T>A | CA349846691 | COL3A1 | c.3490T>A (p.Cys1164Ser) c.3589T>A (p.Cys1197Ser) c.2680T>A (p.Cys894Ser) n.686T>A | ClinVar dbSNP COSMIC COSMIC |
2 | g.189008987T>C | CA349846693 | COL3A1 | c.3490T>C (p.Cys1164Arg) c.3589T>C (p.Cys1197Arg) c.2680T>C (p.Cys894Arg) n.686T>C | |
2 | g.189008987T>G | CA349846692 | COL3A1 | c.3490T>G (p.Cys1164Gly) c.3589T>G (p.Cys1197Gly) c.2680T>G (p.Cys894Gly) n.686T>G | |
2 | g.189008988G>A | CA349846694 | COL3A1 | c.3491G>A (p.Cys1164Tyr) c.3590G>A (p.Cys1197Tyr) c.2681G>A (p.Cys894Tyr) n.687G>A | |
2 | g.189008988G>C | CA349846695 | COL3A1 | c.3491G>C (p.Cys1164Ser) c.3590G>C (p.Cys1197Ser) c.2681G>C (p.Cys894Ser) n.687G>C | ClinVar dbSNP |
2 | g.189008988G= | CA1315405507 | COL3A1 | c.3491G= (p.Cys1164=) c.3590G= (p.Cys1197=) c.2681G= (p.Cys894=) n.687G= | |
2 | g.189008988G>T | CA349846696 | COL3A1 | c.3491G>T (p.Cys1164Phe) c.3590G>T (p.Cys1197Phe) c.2681G>T (p.Cys894Phe) n.687G>T | COSMIC COSMIC |
2 | g.189008989T>A | CA349846697 | COL3A1 | c.3492T>A (p.Cys1164Ter) c.3591T>A (p.Cys1197Ter) c.2682T>A (p.Cys894Ter) n.688T>A | |
2 | g.189008989T>C | CA430406572 | COL3A1 | c.3492T>C (p.Cys1164=) c.3591T>C (p.Cys1197=) c.2682T>C (p.Cys894=) n.688T>C | |
2 | g.189008989T>G | CA349846698 | COL3A1 | c.3492T>G (p.Cys1164Trp) c.3591T>G (p.Cys1197Trp) c.2682T>G (p.Cys894Trp) n.688T>G | |
2 | g.189008990G>A | CA349846699 | COL3A1 | c.3493G>A (p.Gly1165Ser) c.3592G>A (p.Gly1198Ser) c.2683G>A (p.Gly895Ser) n.689G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008990G>C | CA349846700 | COL3A1 | c.3493G>C (p.Gly1165Arg) c.3592G>C (p.Gly1198Arg) c.2683G>C (p.Gly895Arg) n.689G>C | |
2 | g.189008990G= | CA1315405508 | COL3A1 | c.3493G= (p.Gly1165=) c.3592G= (p.Gly1198=) c.2683G= (p.Gly895=) n.689G= | |
2 | g.189008990G>T | CA349846701 | COL3A1 | c.3493G>T (p.Gly1165Cys) c.3592G>T (p.Gly1198Cys) c.2683G>T (p.Gly895Cys) n.689G>T | |
2 | g.189008991G>A | CA349846702 | COL3A1 | c.3494G>A (p.Gly1165Asp) c.3593G>A (p.Gly1198Asp) c.2684G>A (p.Gly895Asp) n.690G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008991G>C | CA076197 | COL3A1 | c.3494G>C (p.Gly1165Ala) c.3593G>C (p.Gly1198Ala) c.2684G>C (p.Gly895Ala) n.690G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189008991G= | CA1315405509 | COL3A1 | c.3494G= (p.Gly1165=) c.3593G= (p.Gly1198=) c.2684G= (p.Gly895=) n.690G= | |
2 | g.189008991G>T | CA349846703 | COL3A1 | c.3494G>T (p.Gly1165Val) c.3593G>T (p.Gly1198Val) c.2684G>T (p.Gly895Val) n.690G>T | |
2 | g.189008992T>A | CA430406573 | COL3A1 | c.3495T>A (p.Gly1165=) c.3594T>A (p.Gly1198=) c.2685T>A (p.Gly895=) n.691T>A | |
2 | g.189008992T>C | CA430406574 | COL3A1 | c.3495T>C (p.Gly1165=) c.3594T>C (p.Gly1198=) c.2685T>C (p.Gly895=) n.691T>C | |
2 | g.189008992T>G | CA430406575 | COL3A1 | c.3495T>G (p.Gly1165=) c.3594T>G (p.Gly1198=) c.2685T>G (p.Gly895=) n.691T>G | |
2 | g.189008993G>A | CA349846706 | COL3A1 | c.3496G>A (p.Gly1166Ser) c.3595G>A (p.Gly1199Ser) c.2686G>A (p.Gly896Ser) n.692G>A | ClinVar dbSNP |
2 | g.189008993G>C | CA349846705 | COL3A1 | c.3496G>C (p.Gly1166Arg) c.3595G>C (p.Gly1199Arg) c.2686G>C (p.Gly896Arg) n.692G>C | |
2 | g.189008993G>T | CA349846704 | COL3A1 | c.3496G>T (p.Gly1166Cys) c.3595G>T (p.Gly1199Cys) c.2686G>T (p.Gly896Cys) n.692G>T | |
2 | g.189008994G>A | CA349846707 | COL3A1 | c.3497G>A (p.Gly1166Asp) c.3596G>A (p.Gly1199Asp) c.2687G>A (p.Gly896Asp) n.693G>A | |
2 | g.189008994G>C | CA349846708 | COL3A1 | c.3497G>C (p.Gly1166Ala) c.3596G>C (p.Gly1199Ala) c.2687G>C (p.Gly896Ala) n.693G>C | |
2 | g.189008994G= | CA1315405510 | COL3A1 | c.3497G= (p.Gly1166=) c.3596G= (p.Gly1199=) c.2687G= (p.Gly896=) n.693G= | |
2 | g.189008994G>T | CA349846709 | COL3A1 | c.3497G>T (p.Gly1166Val) c.3596G>T (p.Gly1199Val) c.2687G>T (p.Gly896Val) n.693G>T | ClinVar dbSNP |
2 | g.189008994_189008995insGTG | CA2753584205 | COL3A1 | c.3497_3498insGTG (p.Gly1166_Val1167insCys) c.3596_3597insGTG (p.Gly1199_Val1200insCys) c.2687_2688insGTG (p.Gly896_Val897insCys) n.693_694insGTG | |
2 | g.189008994_189009001delinsGTGTTGGA | CA1315405511 | COL3A1 | c.3497_3504delinsGTGTTGGA (p.Gly1166=) c.3596_3603delinsGTGTTGGA (p.Gly1199=) c.2687_2694delinsGTGTTGGA (p.Gly896=) n.693_700delinsGTGTTGGA | |
2 | g.189008995T>A | CA430406576 | COL3A1 | c.3498T>A (p.Gly1166=) c.3597T>A (p.Gly1199=) c.2688T>A (p.Gly896=) n.694T>A | |
2 | g.189008995T>C | CA430406578 | COL3A1 | c.3498T>C (p.Gly1166=) c.3597T>C (p.Gly1199=) c.2688T>C (p.Gly896=) n.694T>C | |
2 | g.189008995T>G | CA430406577 | COL3A1 | c.3498T>G (p.Gly1166=) c.3597T>G (p.Gly1199=) c.2688T>G (p.Gly896=) n.694T>G | |
2 | g.189008997_189008999del | CA2662311425 | COL3A1 | c.3500_3502del (p.Val1167del) c.3599_3601del (p.Val1200del) c.2690_2692del (p.Val897del) n.696_698del | gnomAD v4 |
2 | g.189008995_189009001del | CA1315405512 | COL3A1 | c.3498_3504del (p.Val1167ProfsTer?) c.3597_3603del (p.Val1200ProfsTer?) c.2688_2694del (p.Val897ProfsTer?) n.694_700del | dbSNP |
2 | g.189008996G>A | CA349846710 | COL3A1 | c.3499G>A (p.Val1167Ile) c.3598G>A (p.Val1200Ile) c.2689G>A (p.Val897Ile) n.695G>A | |
2 | g.189008996G>C | CA349846711 | COL3A1 | c.3499G>C (p.Val1167Leu) c.3598G>C (p.Val1200Leu) c.2689G>C (p.Val897Leu) n.695G>C | |
2 | g.189008996G>T | CA349846712 | COL3A1 | c.3499G>T (p.Val1167Phe) c.3598G>T (p.Val1200Phe) c.2689G>T (p.Val897Phe) n.695G>T | |
2 | g.189008997T>A | CA349846713 | COL3A1 | c.3500T>A (p.Val1167Asp) c.3599T>A (p.Val1200Asp) c.2690T>A (p.Val897Asp) n.696T>A | |
2 | g.189008997T>C | CA076199 | COL3A1 | c.3500T>C (p.Val1167Ala) c.3599T>C (p.Val1200Ala) c.2690T>C (p.Val897Ala) n.696T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008997T>G | CA349846714 | COL3A1 | c.3500T>G (p.Val1167Gly) c.3599T>G (p.Val1200Gly) c.2690T>G (p.Val897Gly) n.696T>G | |
2 | g.189008997T= | CA1315405513 | COL3A1 | c.3500T= (p.Val1167=) c.3599T= (p.Val1200=) c.2690T= (p.Val897=) n.696T= | |
2 | g.189008998T>A | CA430406579 | COL3A1 | c.3501T>A (p.Val1167=) c.3600T>A (p.Val1200=) c.2691T>A (p.Val897=) n.697T>A | |
2 | g.189008998T>C | CA430406580 | COL3A1 | c.3501T>C (p.Val1167=) c.3600T>C (p.Val1200=) c.2691T>C (p.Val897=) n.697T>C | |
2 | g.189008998T>G | CA430406581 | COL3A1 | c.3501T>G (p.Val1167=) c.3600T>G (p.Val1200=) c.2691T>G (p.Val897=) n.697T>G | dbSNP |
2 | g.189008998T= | CA1315405514 | COL3A1 | c.3501T= (p.Val1167=) c.3600T= (p.Val1200=) c.2691T= (p.Val897=) n.697T= | |
2 | g.189008999G>A | CA349846715 | COL3A1 | c.3502G>A (p.Gly1168Arg) c.3601G>A (p.Gly1201Arg) c.2692G>A (p.Gly898Arg) n.698G>A | COSMIC COSMIC |
2 | g.189008999G>C | CA349846716 | COL3A1 | c.3502G>C (p.Gly1168Arg) c.3601G>C (p.Gly1201Arg) c.2692G>C (p.Gly898Arg) n.698G>C | |
2 | g.189008999G>T | CA349846717 | COL3A1 | c.3502G>T (p.Gly1168Ter) c.3601G>T (p.Gly1201Ter) c.2692G>T (p.Gly898Ter) n.698G>T | |
2 | g.189008999_189009000delinsTT | CA2697551459 | COL3A1 | c.3502_3503delinsTT (p.Gly1168Leu) c.3601_3602delinsTT (p.Gly1201Leu) c.2692_2693delinsTT (p.Gly898Leu) n.698_699delinsTT | ClinVar |
2 | g.189009000G>A | CA349846720 | COL3A1 | c.3503G>A (p.Gly1168Glu) c.3602G>A (p.Gly1201Glu) c.2693G>A (p.Gly898Glu) n.699G>A | |
2 | g.189009000G>C | CA349846719 | COL3A1 | c.3503G>C (p.Gly1168Ala) c.3602G>C (p.Gly1201Ala) c.2693G>C (p.Gly898Ala) n.699G>C | |
2 | g.189009000G>T | CA349846718 | COL3A1 | c.3503G>T (p.Gly1168Val) c.3602G>T (p.Gly1201Val) c.2693G>T (p.Gly898Val) n.699G>T | ClinVar |
2 | g.189009001A>C | CA430406582 | COL3A1 | c.3504A>C (p.Gly1168=) c.3603A>C (p.Gly1201=) c.2694A>C (p.Gly898=) n.700A>C | |
2 | g.189009001A>G | CA430406583 | COL3A1 | c.3504A>G (p.Gly1168=) c.3603A>G (p.Gly1201=) c.2694A>G (p.Gly898=) n.700A>G | |
2 | g.189009001A>T | CA430406584 | COL3A1 | c.3504A>T (p.Gly1168=) c.3603A>T (p.Gly1201=) c.2694A>T (p.Gly898=) n.700A>T | |
2 | g.189009002G>A | CA349846723 | COL3A1 | c.3505G>A (p.Ala1169Thr) c.3604G>A (p.Ala1202Thr) c.2695G>A (p.Ala899Thr) n.701G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189009002G>C | CA349846721 | COL3A1 | c.3505G>C (p.Ala1169Pro) c.3604G>C (p.Ala1202Pro) c.2695G>C (p.Ala899Pro) n.701G>C | |
2 | g.189009002G= | CA1315405515 | COL3A1 | c.3505G= (p.Ala1169=) c.3604G= (p.Ala1202=) c.2695G= (p.Ala899=) n.701G= | |
2 | g.189009002G>T | CA349846722 | COL3A1 | c.3505G>T (p.Ala1169Ser) c.3604G>T (p.Ala1202Ser) c.2695G>T (p.Ala899Ser) n.701G>T | ClinVar dbSNP |
2 | g.189009003C>A | CA349846724 | COL3A1 | c.3506C>A (p.Ala1169Asp) c.3605C>A (p.Ala1202Asp) c.2696C>A (p.Ala899Asp) n.702C>A | |
2 | g.189009003C= | CA1315405516 | COL3A1 | c.3506C= (p.Ala1169=) c.3605C= (p.Ala1202=) c.2696C= (p.Ala899=) n.702C= | |
2 | g.189009003C>G | CA076201 | COL3A1 | c.3506C>G (p.Ala1169Gly) c.3605C>G (p.Ala1202Gly) c.2696C>G (p.Ala899Gly) n.702C>G | dbSNP ExAC gnomAD v2 |
2 | g.189009003C>T | CA349846725 | COL3A1 | c.3506C>T (p.Ala1169Val) c.3605C>T (p.Ala1202Val) c.2696C>T (p.Ala899Val) n.702C>T | COSMIC COSMIC |
2 | g.189009004C>A | CA430406585 | COL3A1 | c.3507C>A (p.Ala1169=) c.3606C>A (p.Ala1202=) c.2697C>A (p.Ala899=) n.703C>A | |
2 | g.189009004C= | CA1315405517 | COL3A1 | c.3507C= (p.Ala1169=) c.3606C= (p.Ala1202=) c.2697C= (p.Ala899=) n.703C= | |
2 | g.189009004C>G | CA430406586 | COL3A1 | c.3507C>G (p.Ala1169=) c.3606C>G (p.Ala1202=) c.2697C>G (p.Ala899=) n.703C>G | |
2 | g.189009004C>T | CA076203 | COL3A1 | c.3507C>T (p.Ala1169=) c.3606C>T (p.Ala1202=) c.2697C>T (p.Ala899=) n.703C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009004_189009005insT | CA1315405519 | COL3A1 | c.3507_3508insT (p.Ala1170CysfsTer9) c.3606_3607insT (p.Ala1203CysfsTer9) c.2697_2698insT (p.Ala900CysfsTer9) n.703_704insT | dbSNP |
2 | g.189009005G>A | CA076205 | COL3A1 | c.3508G>A (p.Ala1170Thr) c.3607G>A (p.Ala1203Thr) c.2698G>A (p.Ala900Thr) n.704G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189009005G>C | CA349846726 | COL3A1 | c.3508G>C (p.Ala1170Pro) c.3607G>C (p.Ala1203Pro) c.2698G>C (p.Ala900Pro) n.704G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189009005G= | CA1315405518 | COL3A1 | c.3508G= (p.Ala1170=) c.3607G= (p.Ala1203=) c.2698G= (p.Ala900=) n.704G= | |
2 | g.189009005G>T | CA349846727 | COL3A1 | c.3508G>T (p.Ala1170Ser) c.3607G>T (p.Ala1203Ser) c.2698G>T (p.Ala900Ser) n.704G>T | gnomAD v4 COSMIC COSMIC |
2 | g.189009006C>A | CA349846728 | COL3A1 | c.3509C>A (p.Ala1170Asp) c.3608C>A (p.Ala1203Asp) c.2699C>A (p.Ala900Asp) n.705C>A | |
2 | g.189009006C= | CA1315405520 | COL3A1 | c.3509C= (p.Ala1170=) c.3608C= (p.Ala1203=) c.2699C= (p.Ala900=) n.705C= | |
2 | g.189009006C>G | CA349846729 | COL3A1 | c.3509C>G (p.Ala1170Gly) c.3608C>G (p.Ala1203Gly) c.2699C>G (p.Ala900Gly) n.705C>G | gnomAD v4 |
2 | g.189009006C>T | CA349846730 | COL3A1 | c.3509C>T (p.Ala1170Val) c.3608C>T (p.Ala1203Val) c.2699C>T (p.Ala900Val) n.705C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189009007T>A | CA430406587 | COL3A1 | c.3510T>A (p.Ala1170=) c.3609T>A (p.Ala1203=) c.2700T>A (p.Ala900=) n.706T>A | |
2 | g.189009007T>C | CA430406589 | COL3A1 | c.3510T>C (p.Ala1170=) c.3609T>C (p.Ala1203=) c.2700T>C (p.Ala900=) n.706T>C | |
2 | g.189009007T>G | CA430406588 | COL3A1 | c.3510T>G (p.Ala1170=) c.3609T>G (p.Ala1203=) c.2700T>G (p.Ala900=) n.706T>G | |
2 | g.189009008G>A | CA349846733 | COL3A1 | c.3511G>A (p.Ala1171Thr) c.3610G>A (p.Ala1204Thr) c.2701G>A (p.Ala901Thr) n.707G>A | |
2 | g.189009008G>C | CA349846732 | COL3A1 | c.3511G>C (p.Ala1171Pro) c.3610G>C (p.Ala1204Pro) c.2701G>C (p.Ala901Pro) n.707G>C | |
2 | g.189009008G>T | CA349846731 | COL3A1 | c.3511G>T (p.Ala1171Ser) c.3610G>T (p.Ala1204Ser) c.2701G>T (p.Ala901Ser) n.707G>T | COSMIC COSMIC |
2 | g.189009009C>A | CA349846734 | COL3A1 | c.3512C>A (p.Ala1171Asp) c.3611C>A (p.Ala1204Asp) c.2702C>A (p.Ala901Asp) n.708C>A | |
2 | g.189009009C>G | CA349846735 | COL3A1 | c.3512C>G (p.Ala1171Gly) c.3611C>G (p.Ala1204Gly) c.2702C>G (p.Ala901Gly) n.708C>G | |
2 | g.189009009C>T | CA349846736 | COL3A1 | c.3512C>T (p.Ala1171Val) c.3611C>T (p.Ala1204Val) c.2702C>T (p.Ala901Val) n.708C>T | ClinVar gnomAD v4 |
2 | g.189009010C>A | CA430406590 | COL3A1 | c.3513C>A (p.Ala1171=) c.3612C>A (p.Ala1204=) c.2703C>A (p.Ala901=) n.709C>A | |
2 | g.189009010C>G | CA430406591 | COL3A1 | c.3513C>G (p.Ala1171=) c.3612C>G (p.Ala1204=) c.2703C>G (p.Ala901=) n.709C>G | |
2 | g.189009010C>T | CA430406592 | COL3A1 | c.3513C>T (p.Ala1171=) c.3612C>T (p.Ala1204=) c.2703C>T (p.Ala901=) n.709C>T | |
2 | g.189009011A= | CA1315405521 | COL3A1 | c.3514A= (p.Ile1172=) c.3613A= (p.Ile1205=) c.2704A= (p.Ile902=) n.710A= | |
2 | g.189009011A>C | CA349846737 | COL3A1 | c.3514A>C (p.Ile1172Leu) c.3613A>C (p.Ile1205Leu) c.2704A>C (p.Ile902Leu) n.710A>C | |
2 | g.189009011A>G | CA006694 | COL3A1 | c.3514A>G (p.Ile1172Val) c.3613A>G (p.Ile1205Val) c.2704A>G (p.Ile902Val) n.710A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009011A>T | CA349846738 | COL3A1 | c.3514A>T (p.Ile1172Phe) c.3613A>T (p.Ile1205Phe) c.2704A>T (p.Ile902Phe) n.710A>T | |
2 | g.189009012T>A | CA349846739 | COL3A1 | c.3515T>A (p.Ile1172Asn) c.3614T>A (p.Ile1205Asn) c.2705T>A (p.Ile902Asn) n.711T>A | |
2 | g.189009012T>C | CA349846740 | COL3A1 | c.3515T>C (p.Ile1172Thr) c.3614T>C (p.Ile1205Thr) c.2705T>C (p.Ile902Thr) n.711T>C | |
2 | g.189009012T>G | CA349846741 | COL3A1 | c.3515T>G (p.Ile1172Ser) c.3614T>G (p.Ile1205Ser) c.2705T>G (p.Ile902Ser) n.711T>G | |
2 | g.189009013T>A | CA430406593 | COL3A1 | c.3516T>A (p.Ile1172=) c.3615T>A (p.Ile1205=) c.2706T>A (p.Ile902=) n.712T>A | |
2 | g.189009013T>C | CA430406594 | COL3A1 | c.3516T>C (p.Ile1172=) c.3615T>C (p.Ile1205=) c.2706T>C (p.Ile902=) n.712T>C | ClinVar |
2 | g.189009013T>G | CA349846742 | COL3A1 | c.3516T>G (p.Ile1172Met) c.3615T>G (p.Ile1205Met) c.2706T>G (p.Ile902Met) n.712T>G | |
2 | g.189009014G>A | CA349846743 | COL3A1 | c.3517G>A (p.Ala1173Thr) c.3616G>A (p.Ala1206Thr) c.2707G>A (p.Ala903Thr) n.713G>A | |
2 | g.189009014G>C | CA349846744 | COL3A1 | c.3517G>C (p.Ala1173Pro) c.3616G>C (p.Ala1206Pro) c.2707G>C (p.Ala903Pro) n.713G>C | |
2 | g.189009014G>T | CA349846745 | COL3A1 | c.3517G>T (p.Ala1173Ser) c.3616G>T (p.Ala1206Ser) c.2707G>T (p.Ala903Ser) n.713G>T | ClinVar dbSNP |
2 | g.189009015C>A | CA349846747 | COL3A1 | c.3518C>A (p.Ala1173Asp) c.3617C>A (p.Ala1206Asp) c.2708C>A (p.Ala903Asp) n.714C>A | |
2 | g.189009015C>G | CA349846748 | COL3A1 | c.3518C>G (p.Ala1173Gly) c.3617C>G (p.Ala1206Gly) c.2708C>G (p.Ala903Gly) n.714C>G | |
2 | g.189009015C>T | CA349846746 | COL3A1 | c.3518C>T (p.Ala1173Val) c.3617C>T (p.Ala1206Val) c.2708C>T (p.Ala903Val) n.714C>T | ClinVar |
2 | g.189009016T>A | CA430406597 | COL3A1 | c.3519T>A (p.Ala1173=) c.3618T>A (p.Ala1206=) c.2709T>A (p.Ala903=) n.715T>A | |
2 | g.189009016T>C | CA430406596 | COL3A1 | c.3519T>C (p.Ala1173=) c.3618T>C (p.Ala1206=) c.2709T>C (p.Ala903=) n.715T>C | |
2 | g.189009016T>G | CA430406595 | COL3A1 | c.3519T>G (p.Ala1173=) c.3618T>G (p.Ala1206=) c.2709T>G (p.Ala903=) n.715T>G | |
2 | g.189009017G>A | CA62562756 | COL3A1 | c.3520G>A (p.Gly1174Arg) c.3619G>A (p.Gly1207Arg) c.2710G>A (p.Gly904Arg) n.716G>A | ClinVar dbSNP |
2 | g.189009017G>C | CA349846750 | COL3A1 | c.3520G>C (p.Gly1174Arg) c.3619G>C (p.Gly1207Arg) c.2710G>C (p.Gly904Arg) n.716G>C | |
2 | g.189009017G= | CA1315405522 | COL3A1 | c.3520G= (p.Gly1174=) c.3619G= (p.Gly1207=) c.2710G= (p.Gly904=) n.716G= | |
2 | g.189009017G>T | CA349846749 | COL3A1 | c.3520G>T (p.Gly1174Trp) c.3619G>T (p.Gly1207Trp) c.2710G>T (p.Gly904Trp) n.716G>T | COSMIC COSMIC |
2 | g.189009018G>A | CA349846751 | COL3A1 | c.3521G>A (p.Gly1174Glu) c.3620G>A (p.Gly1207Glu) c.2711G>A (p.Gly904Glu) n.717G>A | |
2 | g.189009018G>C | CA349846753 | COL3A1 | c.3521G>C (p.Gly1174Ala) c.3620G>C (p.Gly1207Ala) c.2711G>C (p.Gly904Ala) n.717G>C | dbSNP gnomAD v4 |
2 | g.189009018G= | CA1315405523 | COL3A1 | c.3521G= (p.Gly1174=) c.3620G= (p.Gly1207=) c.2711G= (p.Gly904=) n.717G= | |
2 | g.189009018G>T | CA349846752 | COL3A1 | c.3521G>T (p.Gly1174Val) c.3620G>T (p.Gly1207Val) c.2711G>T (p.Gly904Val) n.717G>T | |
2 | g.189009019G>A | CA430406598 | COL3A1 | c.3522G>A (p.Gly1174=) c.3621G>A (p.Gly1207=) c.2712G>A (p.Gly904=) n.718G>A | |
2 | g.189009019G>C | CA430406599 | COL3A1 | c.3522G>C (p.Gly1174=) c.3621G>C (p.Gly1207=) c.2712G>C (p.Gly904=) n.718G>C | |
2 | g.189009019G>T | CA430406600 | COL3A1 | c.3522G>T (p.Gly1174=) c.3621G>T (p.Gly1207=) c.2712G>T (p.Gly904=) n.718G>T | gnomAD v4 |
2 | g.189009020A>C | CA349846754 | COL3A1 | c.3523A>C (p.Ile1175Leu) c.3622A>C (p.Ile1208Leu) c.2713A>C (p.Ile905Leu) n.719A>C | |
2 | g.189009020A>G | CA349846755 | COL3A1 | c.3523A>G (p.Ile1175Val) c.3622A>G (p.Ile1208Val) c.2713A>G (p.Ile905Val) n.719A>G | |
2 | g.189009020A>T | CA349846756 | COL3A1 | c.3523A>T (p.Ile1175Phe) c.3622A>T (p.Ile1208Phe) c.2713A>T (p.Ile905Phe) n.719A>T | |
2 | g.189009021T>A | CA349846757 | COL3A1 | c.3524T>A (p.Ile1175Asn) c.3623T>A (p.Ile1208Asn) c.2714T>A (p.Ile905Asn) n.720T>A | |
2 | g.189009021T>C | CA349846758 | COL3A1 | c.3524T>C (p.Ile1175Thr) c.3623T>C (p.Ile1208Thr) c.2714T>C (p.Ile905Thr) n.720T>C | dbSNP gnomAD v4 |
2 | g.189009021T>G | CA349846759 | COL3A1 | c.3524T>G (p.Ile1175Ser) c.3623T>G (p.Ile1208Ser) c.2714T>G (p.Ile905Ser) n.720T>G | |
2 | g.189009022T>A | CA430406601 | COL3A1 | c.3525T>A (p.Ile1175=) c.3624T>A (p.Ile1208=) c.2715T>A (p.Ile905=) n.721T>A | gnomAD v4 |
2 | g.189009022T>C | CA430406602 | COL3A1 | c.3525T>C (p.Ile1175=) c.3624T>C (p.Ile1208=) c.2715T>C (p.Ile905=) n.721T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009022T>G | CA349846760 | COL3A1 | c.3525T>G (p.Ile1175Met) c.3624T>G (p.Ile1208Met) c.2715T>G (p.Ile905Met) n.721T>G | |
2 | g.189009022T= | CA1315405524 | COL3A1 | c.3525T= (p.Ile1175=) c.3624T= (p.Ile1208=) c.2715T= (p.Ile905=) n.721T= | |
2 | g.189009023G>A | CA62562761 | COL3A1 | c.3526G>A (p.Gly1176Arg) c.3625G>A (p.Gly1209Arg) c.2716G>A (p.Gly906Arg) n.722G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189009023G>C | CA349846761 | COL3A1 | c.3526G>C (p.Gly1176Arg) c.3625G>C (p.Gly1209Arg) c.2716G>C (p.Gly906Arg) n.722G>C | gnomAD v4 |
2 | g.189009023G= | CA1315405525 | COL3A1 | c.3526G= (p.Gly1176=) c.3625G= (p.Gly1209=) c.2716G= (p.Gly906=) n.722G= | |
2 | g.189009023G>T | CA349846762 | COL3A1 | c.3526G>T (p.Gly1176Ter) c.3625G>T (p.Gly1209Ter) c.2716G>T (p.Gly906Ter) n.722G>T | |
2 | g.189009024G>A | CA076208 | COL3A1 | c.3527G>A (p.Gly1176Glu) c.3626G>A (p.Gly1209Glu) c.2717G>A (p.Gly906Glu) n.723G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189009024G>C | CA076211 | COL3A1 | c.3527G>C (p.Gly1176Ala) c.3626G>C (p.Gly1209Ala) c.2717G>C (p.Gly906Ala) n.723G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009024G= | CA1315405526 | COL3A1 | c.3527G= (p.Gly1176=) c.3626G= (p.Gly1209=) c.2717G= (p.Gly906=) n.723G= | |
2 | g.189009024G>T | CA349846763 | COL3A1 | c.3527G>T (p.Gly1176Val) c.3626G>T (p.Gly1209Val) c.2717G>T (p.Gly906Val) n.723G>T | |
2 | g.189009025A>C | CA430406603 | COL3A1 | c.3528A>C (p.Gly1176=) c.3627A>C (p.Gly1209=) c.2718A>C (p.Gly906=) n.724A>C | |
2 | g.189009025A>G | CA430406604 | COL3A1 | c.3528A>G (p.Gly1176=) c.3627A>G (p.Gly1209=) c.2718A>G (p.Gly906=) n.724A>G | |
2 | g.189009025A>T | CA430406605 | COL3A1 | c.3528A>T (p.Gly1176=) c.3627A>T (p.Gly1209=) c.2718A>T (p.Gly906=) n.724A>T | |
2 | g.189009026G>A | CA349846764 | COL3A1 | c.3529G>A (p.Gly1177Ser) c.3628G>A (p.Gly1210Ser) c.2719G>A (p.Gly907Ser) n.725G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189009026G>C | CA349846766 | COL3A1 | c.3529G>C (p.Gly1177Arg) c.3628G>C (p.Gly1210Arg) c.2719G>C (p.Gly907Arg) n.725G>C | |
2 | g.189009026G= | CA1315405527 | COL3A1 | c.3529G= (p.Gly1177=) c.3628G= (p.Gly1210=) c.2719G= (p.Gly907=) n.725G= | |
2 | g.189009026G>T | CA349846765 | COL3A1 | c.3529G>T (p.Gly1177Cys) c.3628G>T (p.Gly1210Cys) c.2719G>T (p.Gly907Cys) n.725G>T | |
2 | g.189009027G>A | CA076213 | COL3A1 | c.3530G>A (p.Gly1177Asp) c.3629G>A (p.Gly1210Asp) c.2720G>A (p.Gly907Asp) n.726G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009027G>C | CA349846768 | COL3A1 | c.3530G>C (p.Gly1177Ala) c.3629G>C (p.Gly1210Ala) c.2720G>C (p.Gly907Ala) n.726G>C | |
2 | g.189009027G= | CA1315405528 | COL3A1 | c.3530G= (p.Gly1177=) c.3629G= (p.Gly1210=) c.2720G= (p.Gly907=) n.726G= | |
2 | g.189009027G>T | CA349846770 | COL3A1 | c.3530G>T (p.Gly1177Val) c.3629G>T (p.Gly1210Val) c.2720G>T (p.Gly907Val) n.726G>T | gnomAD v4 |
2 | g.189009028T>A | CA430406222 | COL3A1 | c.3531T>A (p.Gly1177=) c.3630T>A (p.Gly1210=) c.2721T>A (p.Gly907=) n.727T>A | COSMIC COSMIC |
2 | g.189009028T>C | CA430406223 | COL3A1 | c.3531T>C (p.Gly1177=) c.3630T>C (p.Gly1210=) c.2721T>C (p.Gly907=) n.727T>C | |
2 | g.189009028T>G | CA076215 | COL3A1 | c.3531T>G (p.Gly1177=) c.3630T>G (p.Gly1210=) c.2721T>G (p.Gly907=) n.727T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009028T= | CA1315405529 | COL3A1 | c.3531T= (p.Gly1177=) c.3630T= (p.Gly1210=) c.2721T= (p.Gly907=) n.727T= | |
2 | g.189009029G>A | CA349846775 | COL3A1 | c.3532G>A (p.Glu1178Lys) c.3631G>A (p.Glu1211Lys) c.2722G>A (p.Glu908Lys) n.728G>A | gnomAD v4 |
2 | g.189009029G>C | CA349846777 | COL3A1 | c.3532G>C (p.Glu1178Gln) c.3631G>C (p.Glu1211Gln) c.2722G>C (p.Glu908Gln) n.728G>C | |
2 | g.189009029G>T | CA349846778 | COL3A1 | c.3532G>T (p.Glu1178Ter) c.3631G>T (p.Glu1211Ter) c.2722G>T (p.Glu908Ter) n.728G>T | |
2 | g.189009030A>C | CA349846781 | COL3A1 | c.3533A>C (p.Glu1178Ala) c.3632A>C (p.Glu1211Ala) c.2723A>C (p.Glu908Ala) n.729A>C | |
2 | g.189009030A>G | CA349846782 | COL3A1 | c.3533A>G (p.Glu1178Gly) c.3632A>G (p.Glu1211Gly) c.2723A>G (p.Glu908Gly) n.729A>G | gnomAD v4 |
2 | g.189009030A>T | CA349846785 | COL3A1 | c.3533A>T (p.Glu1178Val) c.3632A>T (p.Glu1211Val) c.2723A>T (p.Glu908Val) n.729A>T | |
2 | g.189009034del | CA2662311426 | COL3A1 | c.3537del (p.Ala1180LeufsTer23) c.3636del (p.Ala1213LeufsTer23) c.2727del (p.Ala910LeufsTer23) n.733del | gnomAD v4 |
2 | g.189009031A>C | CA349846788 | COL3A1 | c.3534A>C (p.Glu1178Asp) c.3633A>C (p.Glu1211Asp) c.2724A>C (p.Glu908Asp) n.730A>C | |
2 | g.189009031A>G | CA430406224 | COL3A1 | c.3534A>G (p.Glu1178=) c.3633A>G (p.Glu1211=) c.2724A>G (p.Glu908=) n.730A>G | |
2 | g.189009031A>T | CA349846789 | COL3A1 | c.3534A>T (p.Glu1178Asp) c.3633A>T (p.Glu1211Asp) c.2724A>T (p.Glu908Asp) n.730A>T | |
2 | g.189009032A>C | CA349846793 | COL3A1 | c.3535A>C (p.Lys1179Gln) c.3634A>C (p.Lys1212Gln) c.2725A>C (p.Lys909Gln) n.731A>C | |
2 | g.189009032A>G | CA349846795 | COL3A1 | c.3535A>G (p.Lys1179Glu) c.3634A>G (p.Lys1212Glu) c.2725A>G (p.Lys909Glu) n.731A>G | |
2 | g.189009032A>T | CA349846797 | COL3A1 | c.3535A>T (p.Lys1179Ter) c.3634A>T (p.Lys1212Ter) c.2725A>T (p.Lys909Ter) n.731A>T | |
2 | g.189009033A>C | CA349846800 | COL3A1 | c.3536A>C (p.Lys1179Thr) c.3635A>C (p.Lys1212Thr) c.2726A>C (p.Lys909Thr) n.732A>C | |
2 | g.189009033A>G | CA349846801 | COL3A1 | c.3536A>G (p.Lys1179Arg) c.3635A>G (p.Lys1212Arg) c.2726A>G (p.Lys909Arg) n.732A>G | |
2 | g.189009033A>T | CA349846803 | COL3A1 | c.3536A>T (p.Lys1179Ile) c.3635A>T (p.Lys1212Ile) c.2726A>T (p.Lys909Ile) n.732A>T | |
2 | g.189009034A= | CA1315405530 | COL3A1 | c.3537A= (p.Lys1179=) c.3636A= (p.Lys1212=) c.2727A= (p.Lys909=) n.733A= | |
2 | g.189009034A>C | CA349846805 | COL3A1 | c.3537A>C (p.Lys1179Asn) c.3636A>C (p.Lys1212Asn) c.2727A>C (p.Lys909Asn) n.733A>C | |
2 | g.189009034A>G | CA430406225 | COL3A1 | c.3537A>G (p.Lys1179=) c.3636A>G (p.Lys1212=) c.2727A>G (p.Lys909=) n.733A>G | dbSNP |
2 | g.189009034A>T | CA349846808 | COL3A1 | c.3537A>T (p.Lys1179Asn) c.3636A>T (p.Lys1212Asn) c.2727A>T (p.Lys909Asn) n.733A>T | |
2 | g.189009035G>A | CA349846810 | COL3A1 | c.3538G>A (p.Ala1180Thr) c.3637G>A (p.Ala1213Thr) c.2728G>A (p.Ala910Thr) n.734G>A | |
2 | g.189009035G>C | CA349846811 | COL3A1 | c.3538G>C (p.Ala1180Pro) c.3637G>C (p.Ala1213Pro) c.2728G>C (p.Ala910Pro) n.734G>C | ClinVar dbSNP gnomAD v4 |
2 | g.189009035G= | CA1315405531 | COL3A1 | c.3538G= (p.Ala1180=) c.3637G= (p.Ala1213=) c.2728G= (p.Ala910=) n.734G= | |
2 | g.189009035G>T | CA349846813 | COL3A1 | c.3538G>T (p.Ala1180Ser) c.3637G>T (p.Ala1213Ser) c.2728G>T (p.Ala910Ser) n.734G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.189009036C>A | CA349846821 | COL3A1 | c.3539C>A (p.Ala1180Asp) c.3638C>A (p.Ala1213Asp) c.2729C>A (p.Ala910Asp) n.735C>A | |
2 | g.189009036C= | CA1315405532 | COL3A1 | c.3539C= (p.Ala1180=) c.3638C= (p.Ala1213=) c.2729C= (p.Ala910=) n.735C= | |
2 | g.189009036C>G | CA349846819 | COL3A1 | c.3539C>G (p.Ala1180Gly) c.3638C>G (p.Ala1213Gly) c.2729C>G (p.Ala910Gly) n.735C>G | |
2 | g.189009036C>T | CA349846816 | COL3A1 | c.3539C>T (p.Ala1180Val) c.3638C>T (p.Ala1213Val) c.2729C>T (p.Ala910Val) n.735C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189009037T>A | CA430406226 | COL3A1 | c.3540T>A (p.Ala1180=) c.3639T>A (p.Ala1213=) c.2730T>A (p.Ala910=) n.736T>A | |
2 | g.189009037T>C | CA430406228 | COL3A1 | c.3540T>C (p.Ala1180=) c.3639T>C (p.Ala1213=) c.2730T>C (p.Ala910=) n.736T>C | |
2 | g.189009037T>G | CA430406227 | COL3A1 | c.3540T>G (p.Ala1180=) c.3639T>G (p.Ala1213=) c.2730T>G (p.Ala910=) n.736T>G | |
2 | g.189009038G>A | CA349846825 | COL3A1 | c.3541G>A (p.Gly1181Ser) c.3640G>A (p.Gly1214Ser) c.2731G>A (p.Gly911Ser) n.737G>A | ClinVar |
2 | g.189009038G>C | CA349846828 | COL3A1 | c.3541G>C (p.Gly1181Arg) c.3640G>C (p.Gly1214Arg) c.2731G>C (p.Gly911Arg) n.737G>C | |
2 | g.189009038G>T | CA349846830 | COL3A1 | c.3541G>T (p.Gly1181Cys) c.3640G>T (p.Gly1214Cys) c.2731G>T (p.Gly911Cys) n.737G>T | |
2 | g.189009039G>A | CA349846833 | COL3A1 | c.3542G>A (p.Gly1181Asp) c.3641G>A (p.Gly1214Asp) c.2732G>A (p.Gly911Asp) n.738G>A | |
2 | g.189009039G>C | CA349846835 | COL3A1 | c.3542G>C (p.Gly1181Ala) c.3641G>C (p.Gly1214Ala) c.2732G>C (p.Gly911Ala) n.738G>C | gnomAD v4 |
2 | g.189009039G>T | CA349846837 | COL3A1 | c.3542G>T (p.Gly1181Val) c.3641G>T (p.Gly1214Val) c.2732G>T (p.Gly911Val) n.738G>T | COSMIC COSMIC |
2 | g.189009040C>A | CA006702 | COL3A1 | c.3543C>A (p.Gly1181=) c.3642C>A (p.Gly1214=) c.2733C>A (p.Gly911=) n.739C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009040C= | CA1315405533 | COL3A1 | c.3543C= (p.Gly1181=) c.3642C= (p.Gly1214=) c.2733C= (p.Gly911=) n.739C= | |
2 | g.189009040C>G | CA430406229 | COL3A1 | c.3543C>G (p.Gly1181=) c.3642C>G (p.Gly1214=) c.2733C>G (p.Gly911=) n.739C>G | |
2 | g.189009040C>T | CA076218 | COL3A1 | c.3543C>T (p.Gly1181=) c.3642C>T (p.Gly1214=) c.2733C>T (p.Gly911=) n.739C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.189009041G>A | CA076221 | COL3A1 | c.3544G>A (p.Gly1182Ser) c.3643G>A (p.Gly1215Ser) c.2734G>A (p.Gly912Ser) n.740G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009041G>C | CA349846846 | COL3A1 | c.3544G>C (p.Gly1182Arg) c.3643G>C (p.Gly1215Arg) c.2734G>C (p.Gly912Arg) n.740G>C | |
2 | g.189009041G= | CA1315405534 | COL3A1 | c.3544G= (p.Gly1182=) c.3643G= (p.Gly1215=) c.2734G= (p.Gly912=) n.740G= | |
2 | g.189009041G>T | CA349846849 | COL3A1 | c.3544G>T (p.Gly1182Cys) c.3643G>T (p.Gly1215Cys) c.2734G>T (p.Gly912Cys) n.740G>T | |
2 | g.189009042dup | CA62562847 | COL3A1 | c.3545dup (p.Ala1184CysfsTer7) c.3644dup (p.Ala1217CysfsTer7) c.2735dup (p.Ala914CysfsTer7) n.741dup | dbSNP |
2 | g.189009042G>A | CA62562852 | COL3A1 | c.3545G>A (p.Gly1182Asp) c.3644G>A (p.Gly1215Asp) c.2735G>A (p.Gly912Asp) n.741G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189009042G>C | CA349846854 | COL3A1 | c.3545G>C (p.Gly1182Ala) c.3644G>C (p.Gly1215Ala) c.2735G>C (p.Gly912Ala) n.741G>C | |
2 | g.189009042G= | CA1315405535 | COL3A1 | c.3545G= (p.Gly1182=) c.3644G= (p.Gly1215=) c.2735G= (p.Gly912=) n.741G= | |
2 | g.189009042G>T | CA349846851 | COL3A1 | c.3545G>T (p.Gly1182Val) c.3644G>T (p.Gly1215Val) c.2735G>T (p.Gly912Val) n.741G>T | |
2 | g.189009043T>A | CA430406230 | COL3A1 | c.3546T>A (p.Gly1182=) c.3645T>A (p.Gly1215=) c.2736T>A (p.Gly912=) n.742T>A | |
2 | g.189009043T>C | CA430406231 | COL3A1 | c.3546T>C (p.Gly1182=) c.3645T>C (p.Gly1215=) c.2736T>C (p.Gly912=) n.742T>C | dbSNP |
2 | g.189009043T>G | CA430406232 | COL3A1 | c.3546T>G (p.Gly1182=) c.3645T>G (p.Gly1215=) c.2736T>G (p.Gly912=) n.742T>G | dbSNP |
2 | g.189009043T= | CA1315405536 | COL3A1 | c.3546T= (p.Gly1182=) c.3645T= (p.Gly1215=) c.2736T= (p.Gly912=) n.742T= | |
2 | g.189009044T>A | CA349846859 | COL3A1 | c.3547T>A (p.Phe1183Ile) c.3646T>A (p.Phe1216Ile) c.2737T>A (p.Phe913Ile) n.743T>A | |
2 | g.189009044T>C | CA349846861 | COL3A1 | c.3547T>C (p.Phe1183Leu) c.3646T>C (p.Phe1216Leu) c.2737T>C (p.Phe913Leu) n.743T>C | |
2 | g.189009044T>G | CA349846864 | COL3A1 | c.3547T>G (p.Phe1183Val) c.3646T>G (p.Phe1216Val) c.2737T>G (p.Phe913Val) n.743T>G | |
2 | g.189009045T>A | CA349846868 | COL3A1 | c.3548T>A (p.Phe1183Tyr) c.3647T>A (p.Phe1216Tyr) c.2738T>A (p.Phe913Tyr) n.744T>A | |
2 | g.189009045T>C | CA349846870 | COL3A1 | c.3548T>C (p.Phe1183Ser) c.3647T>C (p.Phe1216Ser) c.2738T>C (p.Phe913Ser) n.744T>C | |
2 | g.189009045T>G | CA349846872 | COL3A1 | c.3548T>G (p.Phe1183Cys) c.3647T>G (p.Phe1216Cys) c.2738T>G (p.Phe913Cys) n.744T>G | |
2 | g.189009046T>A | CA349846877 | COL3A1 | c.3549T>A (p.Phe1183Leu) c.3648T>A (p.Phe1216Leu) c.2739T>A (p.Phe913Leu) n.745T>A | |
2 | g.189009046T>C | CA430406233 | COL3A1 | c.3549T>C (p.Phe1183=) c.3648T>C (p.Phe1216=) c.2739T>C (p.Phe913=) n.745T>C | |
2 | g.189009046T>G | CA349846875 | COL3A1 | c.3549T>G (p.Phe1183Leu) c.3648T>G (p.Phe1216Leu) c.2739T>G (p.Phe913Leu) n.745T>G | |
2 | g.189009047G>A | CA349846880 | COL3A1 | c.3550G>A (p.Ala1184Thr) c.3649G>A (p.Ala1217Thr) c.2740G>A (p.Ala914Thr) n.746G>A | |
2 | g.189009047G>C | CA62562856 | COL3A1 | c.3550G>C (p.Ala1184Pro) c.3649G>C (p.Ala1217Pro) c.2740G>C (p.Ala914Pro) n.746G>C | dbSNP |
2 | g.189009047G= | CA1315405537 | COL3A1 | c.3550G= (p.Ala1184=) c.3649G= (p.Ala1217=) c.2740G= (p.Ala914=) n.746G= | |
2 | g.189009047G>T | CA076222 | COL3A1 | c.3550G>T (p.Ala1184Ser) c.3649G>T (p.Ala1217Ser) c.2740G>T (p.Ala914Ser) n.746G>T | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
2 | g.189009048C>A | CA349846883 | COL3A1 | c.3551C>A (p.Ala1184Asp) c.3650C>A (p.Ala1217Asp) c.2741C>A (p.Ala914Asp) n.747C>A | |
2 | g.189009048C= | CA1315405538 | COL3A1 | c.3551C= (p.Ala1184=) c.3650C= (p.Ala1217=) c.2741C= (p.Ala914=) n.747C= | |
2 | g.189009048C>G | CA349846886 | COL3A1 | c.3551C>G (p.Ala1184Gly) c.3650C>G (p.Ala1217Gly) c.2741C>G (p.Ala914Gly) n.747C>G | |
2 | g.189009048C>T | CA62562882 | COL3A1 | c.3551C>T (p.Ala1184Val) c.3650C>T (p.Ala1217Val) c.2741C>T (p.Ala914Val) n.747C>T | dbSNP gnomAD v4 COSMIC |
2 | g.189009049C>A | CA430406234 | COL3A1 | c.3552C>A (p.Ala1184=) c.3651C>A (p.Ala1217=) c.2742C>A (p.Ala914=) n.748C>A | dbSNP |
2 | g.189009049C= | CA1315405539 | COL3A1 | c.3552C= (p.Ala1184=) c.3651C= (p.Ala1217=) c.2742C= (p.Ala914=) n.748C= | |
2 | g.189009049C>G | CA430406235 | COL3A1 | c.3552C>G (p.Ala1184=) c.3651C>G (p.Ala1217=) c.2742C>G (p.Ala914=) n.748C>G | |
2 | g.189009049C>T | CA430406236 | COL3A1 | c.3552C>T (p.Ala1184=) c.3651C>T (p.Ala1217=) c.2742C>T (p.Ala914=) n.748C>T | |
2 | g.189009050C>A | CA349846894 | COL3A1 | c.3553C>A (p.Pro1185Thr) c.3652C>A (p.Pro1218Thr) c.2743C>A (p.Pro915Thr) n.749C>A | |
2 | g.189009050C= | CA1315405540 | COL3A1 | c.3553C= (p.Pro1185=) c.3652C= (p.Pro1218=) c.2743C= (p.Pro915=) n.749C= | |
2 | g.189009050C>G | CA349846891 | COL3A1 | c.3553C>G (p.Pro1185Ala) c.3652C>G (p.Pro1218Ala) c.2743C>G (p.Pro915Ala) n.749C>G | |
2 | g.189009050C>T | CA076226 | COL3A1 | c.3553C>T (p.Pro1185Ser) c.3652C>T (p.Pro1218Ser) c.2743C>T (p.Pro915Ser) n.749C>T | dbSNP ExAC |
2 | g.189009051C>A | CA349846897 | COL3A1 | c.3554C>A (p.Pro1185Gln) c.3653C>A (p.Pro1218Gln) c.2744C>A (p.Pro915Gln) n.750C>A | |
2 | g.189009051C= | CA1315405541 | COL3A1 | c.3554C= (p.Pro1185=) c.3653C= (p.Pro1218=) c.2744C= (p.Pro915=) n.750C= | |
2 | g.189009051C>G | CA349846898 | COL3A1 | c.3554C>G (p.Pro1185Arg) c.3653C>G (p.Pro1218Arg) c.2744C>G (p.Pro915Arg) n.750C>G | |
2 | g.189009051C>T | CA076228 | COL3A1 | c.3554C>T (p.Pro1185Leu) c.3653C>T (p.Pro1218Leu) c.2744C>T (p.Pro915Leu) n.750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.189009052G>A | CA076230 | COL3A1 | c.3555G>A (p.Pro1185=) c.3654G>A (p.Pro1218=) c.2745G>A (p.Pro915=) n.751G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.189009052G>C | CA430406237 | COL3A1 | c.3555G>C (p.Pro1185=) c.3654G>C (p.Pro1218=) c.2745G>C (p.Pro915=) n.751G>C | dbSNP |
2 | g.189009052G= | CA1315405542 | COL3A1 | c.3555G= (p.Pro1185=) c.3654G= (p.Pro1218=) c.2745G= (p.Pro915=) n.751G= | |
2 | g.189009052G>T | CA006711 | COL3A1 | c.3555G>T (p.Pro1185=) c.3654G>T (p.Pro1218=) c.2745G>T (p.Pro915=) n.751G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189009053T>A | CA349846903 | COL3A1 | c.3556T>A (p.Tyr1186Asn) c.3655T>A (p.Tyr1219Asn) c.2746T>A (p.Tyr916Asn) n.752T>A | |
2 | g.189009053T>C | CA349846905 | COL3A1 | c.3556T>C (p.Tyr1186His) c.3655T>C (p.Tyr1219His) c.2746T>C (p.Tyr916His) n.752T>C | |
2 | g.189009053T>G | CA349846907 | COL3A1 | c.3556T>G (p.Tyr1186Asp) c.3655T>G (p.Tyr1219Asp) c.2746T>G (p.Tyr916Asp) n.752T>G | |
2 | g.189009054A>C | CA349846909 | COL3A1 | c.3557A>C (p.Tyr1186Ser) c.3656A>C (p.Tyr1219Ser) c.2747A>C (p.Tyr916Ser) n.753A>C | |
2 | g.189009054A>G | CA349846912 | COL3A1 | c.3557A>G (p.Tyr1186Cys) c.3656A>G (p.Tyr1219Cys) c.2747A>G (p.Tyr916Cys) n.753A>G | ClinVar |
2 | g.189009054A>T | CA349846914 | COL3A1 | c.3557A>T (p.Tyr1186Phe) c.3656A>T (p.Tyr1219Phe) c.2747A>T (p.Tyr916Phe) n.753A>T | |
2 | g.189009055T>A | CA349846917 | COL3A1 | c.3558T>A (p.Tyr1186Ter) c.3657T>A (p.Tyr1219Ter) c.2748T>A (p.Tyr916Ter) n.754T>A | |
2 | g.189009055T>C | CA430406238 | COL3A1 | c.3558T>C (p.Tyr1186=) c.3657T>C (p.Tyr1219=) c.2748T>C (p.Tyr916=) n.754T>C | gnomAD v4 |
2 | g.189009055T>G | CA349846920 | COL3A1 | c.3558T>G (p.Tyr1186Ter) c.3657T>G (p.Tyr1219Ter) c.2748T>G (p.Tyr916Ter) n.754T>G | |
2 | g.189009056T>A | CA349846924 | COL3A1 | c.3559T>A (p.Tyr1187Asn) c.3658T>A (p.Tyr1220Asn) c.2749T>A (p.Tyr917Asn) n.755T>A | ClinVar dbSNP COSMIC COSMIC |
2 | g.189009056T>C | CA349846928 | COL3A1 | c.3559T>C (p.Tyr1187His) c.3658T>C (p.Tyr1220His) c.2749T>C (p.Tyr917His) n.755T>C | |
2 | g.189009056T>G | CA349846925 | COL3A1 | c.3559T>G (p.Tyr1187Asp) c.3658T>G (p.Tyr1220Asp) c.2749T>G (p.Tyr917Asp) n.755T>G | |
2 | g.189009056T= | CA1315405543 | COL3A1 | c.3559T= (p.Tyr1187=) c.3658T= (p.Tyr1220=) c.2749T= (p.Tyr917=) n.755T= | |
2 | g.189009057A>C | CA349846931 | COL3A1 | c.3560A>C (p.Tyr1187Ser) c.3659A>C (p.Tyr1220Ser) c.2750A>C (p.Tyr917Ser) n.756A>C | |
2 | g.189009057A>G | CA349846933 | COL3A1 | c.3560A>G (p.Tyr1187Cys) c.3659A>G (p.Tyr1220Cys) c.2750A>G (p.Tyr917Cys) n.756A>G | gnomAD v4 |
2 | g.189009057A>T | CA349846935 | COL3A1 | c.3560A>T (p.Tyr1187Phe) c.3659A>T (p.Tyr1220Phe) c.2750A>T (p.Tyr917Phe) n.756A>T | COSMIC |
2 | g.189009058T>A | CA349846936 | COL3A1 | c.3561T>A (p.Tyr1187Ter) c.3660T>A (p.Tyr1220Ter) c.2751T>A (p.Tyr917Ter) n.757T>A | |
2 | g.189009058T>C | CA430406239 | COL3A1 | c.3561T>C (p.Tyr1187=) c.3660T>C (p.Tyr1220=) c.2751T>C (p.Tyr917=) n.757T>C | |
2 | g.189009058T>G | CA349846939 | COL3A1 | c.3561T>G (p.Tyr1187Ter) c.3660T>G (p.Tyr1220Ter) c.2751T>G (p.Tyr917Ter) n.757T>G | |
2 | g.189009059G>A | CA349846943 | COL3A1 | c.3562G>A (p.Gly1188Arg) c.3661G>A (p.Gly1221Arg) c.2752G>A (p.Gly918Arg) n.758G>A | gnomAD v3 gnomAD v4 |
2 | g.189009059G>C | CA349846945 | COL3A1 | c.3562G>C (p.Gly1188Arg) c.3661G>C (p.Gly1221Arg) c.2752G>C (p.Gly918Arg) n.758G>C | |
2 | g.189009059G>T | CA349846948 | COL3A1 | c.3562G>T (p.Gly1188Ter) c.3661G>T (p.Gly1221Ter) c.2752G>T (p.Gly918Ter) n.758G>T | |
2 | g.189009059_189009060del | CA645514688 | COL3A1 | c.3562_3563del (p.Gly1188ArgfsTer2) c.3661_3662del (p.Gly1221ArgfsTer2) c.2752_2753del (p.Gly918ArgfsTer2) n.758_759del | COSMIC COSMIC |
2 | g.189009060G>A | CA349846950 | COL3A1 | c.3563G>A (p.Gly1188Glu) c.3662G>A (p.Gly1221Glu) c.2753G>A (p.Gly918Glu) n.759G>A | |
2 | g.189009060G>C | CA349846953 | COL3A1 | c.3563G>C (p.Gly1188Ala) c.3662G>C (p.Gly1221Ala) c.2753G>C (p.Gly918Ala) n.759G>C | gnomAD v4 |
2 | g.189009060G>T | CA349846955 | COL3A1 | c.3563G>T (p.Gly1188Val) c.3662G>T (p.Gly1221Val) c.2753G>T (p.Gly918Val) n.759G>T | |
2 | g.189009061A>C | CA430406240 | COL3A1 | c.3564A>C (p.Gly1188=) c.3663A>C (p.Gly1221=) c.2754A>C (p.Gly918=) n.760A>C | |
2 | g.189009061A>G | CA430406241 | COL3A1 | c.3564A>G (p.Gly1188=) c.3663A>G (p.Gly1221=) c.2754A>G (p.Gly918=) n.760A>G | |
2 | g.189009061A>T | CA430406242 | COL3A1 | c.3564A>T (p.Gly1188=) c.3663A>T (p.Gly1221=) c.2754A>T (p.Gly918=) n.760A>T |