Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94404862_94404873del | CA2740097418 | COL1A2 | c.402_413del (p.Ala135_Pro138del) c.396_407del (p.Ala133_Pro136del) | ClinVar |
7 | g.94404872C>A | CA368219703 | COL1A2 | c.412C>A (p.Pro138Thr) c.406C>A (p.Pro136Thr) | |
7 | g.94404872C>G | CA368219704 | COL1A2 | c.412C>G (p.Pro138Ala) c.406C>G (p.Pro136Ala) | gnomAD v4 |
7 | g.94404872C>T | CA368219705 | COL1A2 | c.412C>T (p.Pro138Ser) c.406C>T (p.Pro136Ser) | ClinVar |
7 | g.94404873C>A | CA368219706 | COL1A2 | c.413C>A (p.Pro138His) c.407C>A (p.Pro136His) | |
7 | g.94404873C>G | CA368219707 | COL1A2 | c.413C>G (p.Pro138Arg) c.407C>G (p.Pro136Arg) | |
7 | g.94404873C>T | CA368219708 | COL1A2 | c.413C>T (p.Pro138Leu) c.407C>T (p.Pro136Leu) | |
7 | g.94404874T>A | CA456487340 | COL1A2 | c.414T>A (p.Pro138=) c.408T>A (p.Pro136=) | |
7 | g.94404874T>C | CA456487341 | COL1A2 | c.414T>C (p.Pro138=) c.408T>C (p.Pro136=) | |
7 | g.94404874T>G | CA456487343 | COL1A2 | c.414T>G (p.Pro138=) c.408T>G (p.Pro136=) | |
7 | g.94404875G>A | CA368219709 | COL1A2 | c.415G>A (p.Gly139Ser) c.409G>A (p.Gly137Ser) | gnomAD v4 |
7 | g.94404875G>C | CA368219710 | COL1A2 | c.415G>C (p.Gly139Arg) c.409G>C (p.Gly137Arg) | |
7 | g.94404875G>T | CA368219711 | COL1A2 | c.415G>T (p.Gly139Cys) c.409G>T (p.Gly137Cys) | |
7 | g.94404876G>A | CA368219712 | COL1A2 | c.416G>A (p.Gly139Asp) c.410G>A (p.Gly137Asp) | |
7 | g.94404876G>C | CA368219713 | COL1A2 | c.416G>C (p.Gly139Ala) c.410G>C (p.Gly137Ala) | |
7 | g.94404876G>T | CA368219714 | COL1A2 | c.416G>T (p.Gly139Val) c.410G>T (p.Gly137Val) | |
7 | g.94404877C>A | CA456487345 | COL1A2 | c.417C>A (p.Gly139=) c.411C>A (p.Gly137=) | |
7 | g.94404877C= | CA1726792265 | COL1A2 | c.417C= (p.Gly139=) c.411C= (p.Gly137=) | |
7 | g.94404877C>G | CA456487346 | COL1A2 | c.417C>G (p.Gly139=) c.411C>G (p.Gly137=) | |
7 | g.94404877C>T | CA456487347 | COL1A2 | c.417C>T (p.Gly139=) c.411C>T (p.Gly137=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404878A>C | CA368219715 | COL1A2 | c.418A>C (p.Lys140Gln) c.412A>C (p.Lys138Gln) | |
7 | g.94404878A>G | CA368219717 | COL1A2 | c.418A>G (p.Lys140Glu) c.412A>G (p.Lys138Glu) | |
7 | g.94404878A>T | CA368219716 | COL1A2 | c.418A>T (p.Lys140Ter) c.412A>T (p.Lys138Ter) | |
7 | g.94404879A>C | CA368219718 | COL1A2 | c.419A>C (p.Lys140Thr) c.413A>C (p.Lys138Thr) | |
7 | g.94404879A>G | CA368219719 | COL1A2 | c.419A>G (p.Lys140Arg) c.413A>G (p.Lys138Arg) | |
7 | g.94404879A>T | CA368219720 | COL1A2 | c.419A>T (p.Lys140Met) c.413A>T (p.Lys138Met) | COSMIC |
7 | g.94404880G>A | CA456487352 | COL1A2 | c.420G>A (p.Lys140=) c.414G>A (p.Lys138=) | |
7 | g.94404880G>C | CA368219721 | COL1A2 | c.420G>C (p.Lys140Asn) c.414G>C (p.Lys138Asn) | |
7 | g.94404880G>T | CA368219722 | COL1A2 | c.420G>T (p.Lys140Asn) c.414G>T (p.Lys138Asn) | |
7 | g.94404881G>A | CA4346663 | COL1A2 | c.421G>A (p.Ala141Thr) c.415G>A (p.Ala139Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404881G>C | CA368219724 | COL1A2 | c.421G>C (p.Ala141Pro) c.415G>C (p.Ala139Pro) | |
7 | g.94404881G= | CA1726792266 | COL1A2 | c.421G= (p.Ala141=) c.415G= (p.Ala139=) | |
7 | g.94404881G>T | CA368219723 | COL1A2 | c.421G>T (p.Ala141Ser) c.415G>T (p.Ala139Ser) | |
7 | g.94404882C>A | CA368219725 | COL1A2 | c.422C>A (p.Ala141Asp) c.416C>A (p.Ala139Asp) | |
7 | g.94404882C>G | CA368219726 | COL1A2 | c.422C>G (p.Ala141Gly) c.416C>G (p.Ala139Gly) | |
7 | g.94404882C>T | CA368219727 | COL1A2 | c.422C>T (p.Ala141Val) c.416C>T (p.Ala139Val) | |
7 | g.94404883T>A | CA456487355 | COL1A2 | c.423T>A (p.Ala141=) c.417T>A (p.Ala139=) | |
7 | g.94404883T>C | CA456487356 | COL1A2 | c.423T>C (p.Ala141=) c.417T>C (p.Ala139=) | gnomAD v4 |
7 | g.94404883T>G | CA456487357 | COL1A2 | c.423T>G (p.Ala141=) c.417T>G (p.Ala139=) | |
7 | g.94404884G>A | CA368219728 | COL1A2 | c.424G>A (p.Gly142Ser) c.418G>A (p.Gly140Ser) | ClinVar gnomAD v4 |
7 | g.94404884G>C | CA368219729 | COL1A2 | c.424G>C (p.Gly142Arg) c.418G>C (p.Gly140Arg) | |
7 | g.94404884G>T | CA368219730 | COL1A2 | c.424G>T (p.Gly142Cys) c.418G>T (p.Gly140Cys) | |
7 | g.94404885G>A | CA368219733 | COL1A2 | c.425G>A (p.Gly142Asp) c.419G>A (p.Gly140Asp) | |
7 | g.94404885G>C | CA368219731 | COL1A2 | c.425G>C (p.Gly142Ala) c.419G>C (p.Gly140Ala) | |
7 | g.94404885G>T | CA368219732 | COL1A2 | c.425G>T (p.Gly142Val) c.419G>T (p.Gly140Val) | |
7 | g.94404886T>A | CA456487359 | COL1A2 | c.426T>A (p.Gly142=) c.420T>A (p.Gly140=) | |
7 | g.94404886T>C | CA456487360 | COL1A2 | c.426T>C (p.Gly142=) c.420T>C (p.Gly140=) | |
7 | g.94404886T>G | CA4346664 | COL1A2 | c.426T>G (p.Gly142=) c.420T>G (p.Gly140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404886T= | CA1726792267 | COL1A2 | c.426T= (p.Gly142=) c.420T= (p.Gly140=) | |
7 | g.94404887G>A | CA4346665 | COL1A2 | c.427G>A (p.Glu143Lys) c.421G>A (p.Glu141Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404887G>C | CA368219734 | COL1A2 | c.427G>C (p.Glu143Gln) c.421G>C (p.Glu141Gln) | |
7 | g.94404887G= | CA1726792268 | COL1A2 | c.427G= (p.Glu143=) c.421G= (p.Glu141=) | |
7 | g.94404887G>T | CA368219735 | COL1A2 | c.427G>T (p.Glu143Ter) c.421G>T (p.Glu141Ter) | |
7 | g.94404888A>C | CA368219736 | COL1A2 | c.428A>C (p.Glu143Ala) c.422A>C (p.Glu141Ala) | gnomAD v4 |
7 | g.94404888A>G | CA368219737 | COL1A2 | c.428A>G (p.Glu143Gly) c.422A>G (p.Glu141Gly) | |
7 | g.94404888A>T | CA368219738 | COL1A2 | c.428A>T (p.Glu143Val) c.422A>T (p.Glu141Val) | |
7 | g.94404889A= | CA1726792269 | COL1A2 | c.429A= (p.Glu143=) c.423A= (p.Glu141=) | |
7 | g.94404889A>C | CA4346666 | COL1A2 | c.429A>C (p.Glu143Asp) c.423A>C (p.Glu141Asp) | dbSNP ExAC gnomAD v2 |
7 | g.94404889A>G | CA456487364 | COL1A2 | c.429A>G (p.Glu143=) c.423A>G (p.Glu141=) | |
7 | g.94404889A>T | CA368219739 | COL1A2 | c.429A>T (p.Glu143Asp) c.423A>T (p.Glu141Asp) | |
7 | g.94404890G>A | CA162914477 | COL1A2 | c.430G>A (p.Asp144Asn) c.424G>A (p.Asp142Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.94404890G>C | CA368219740 | COL1A2 | c.430G>C (p.Asp144His) c.424G>C (p.Asp142His) | |
7 | g.94404890G= | CA1726792270 | COL1A2 | c.430G= (p.Asp144=) c.424G= (p.Asp142=) | |
7 | g.94404890G>T | CA368219741 | COL1A2 | c.430G>T (p.Asp144Tyr) c.424G>T (p.Asp142Tyr) | |
7 | g.94404891A= | CA1726792271 | COL1A2 | c.431A= (p.Asp144=) c.425A= (p.Asp142=) | |
7 | g.94404891A>C | CA368219742 | COL1A2 | c.431A>C (p.Asp144Ala) c.425A>C (p.Asp142Ala) | ClinVar |
7 | g.94404891A>G | CA368219744 | COL1A2 | c.431A>G (p.Asp144Gly) c.425A>G (p.Asp142Gly) | ClinVar dbSNP |
7 | g.94404891A>T | CA368219743 | COL1A2 | c.431A>T (p.Asp144Val) c.425A>T (p.Asp142Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404892T>A | CA368219745 | COL1A2 | c.432T>A (p.Asp144Glu) c.426T>A (p.Asp142Glu) | gnomAD v4 |
7 | g.94404892T>C | CA456487366 | COL1A2 | c.432T>C (p.Asp144=) c.426T>C (p.Asp142=) | |
7 | g.94404892T>G | CA368219746 | COL1A2 | c.432T>G (p.Asp144Glu) c.426T>G (p.Asp142Glu) | dbSNP |
7 | g.94404892T= | CA1726792273 | COL1A2 | c.432T= (p.Asp144=) c.426T= (p.Asp142=) | |
7 | g.94404892_94404896delinsTGTAA | CA1726792272 | COL1A2 | c.432_432+4delinsTGTAA c.426_426+4delinsTGTAA | |
7 | g.94404893G>A | CA368219747 | COL1A2 | c.432+1G>A (n.432+1G>A) c.426+1G>A (n.426+1G>A) | ClinVar dbSNP |
7 | g.94404893G>C | CA368219748 | COL1A2 | c.432+1G>C (n.432+1G>C) c.426+1G>C (n.426+1G>C) | ClinVar |
7 | g.94404893G= | CA1726792275 | COL1A2 | c.432+1G= (n.432+1G=) c.426+1G= (n.426+1G=) | |
7 | g.94404893G>T | CA368219749 | COL1A2 | c.432+1G>T (n.432+1G>T) c.426+1G>T (n.426+1G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.94404896_94404899del | CA162914491 | COL1A2 | c.432+4_432+7del (n.432+4_432+7del) c.426+4_426+7del (n.426+4_426+7del) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.94404893_94404904delinsGTAAGTATTTAC | CA1726792274 | COL1A2 | c.432+1_432+12delinsGTAAGTATTTAC (n.432+1_432+12delinsGTAAGTATTTAC) c.426+1_426+12delinsGTAAGTATTTAC (n.426+1_426+12delinsGTAAGTATTTAC) | |
7 | g.94404893_94404894insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT | CA2715125273 | COL1A2 | c.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT (n.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT) c.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT (n.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT) | dbSNP |
7 | g.94404893_94404894insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA | CA2776991045 | COL1A2 | c.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA (n.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA) c.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA (n.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA) | |
7 | g.94404894T>A | CA368219750 | COL1A2 | c.432+2T>A (n.432+2T>A) c.426+2T>A (n.426+2T>A) | ClinVar dbSNP |
7 | g.94404894T>C | CA368219751 | COL1A2 | c.432+2T>C (n.432+2T>C) c.426+2T>C (n.426+2T>C) | |
7 | g.94404894T>G | CA368219752 | COL1A2 | c.432+2T>G (n.432+2T>G) c.426+2T>G (n.426+2T>G) | |
7 | g.94404895_94404905del | CA162914495 | COL1A2 | c.432+3_432+13del (n.432+3_432+13del) c.426+3_426+13del (n.426+3_426+13del) | ClinVar dbSNP |
7 | g.94404895A>C | CA2580615935 | COL1A2 | c.432+3A>C (n.432+3A>C) c.426+3A>C (n.426+3A>C) | ClinVar |
7 | g.94404895A>T | CA2776991046 | COL1A2 | c.432+3A>T (n.432+3A>T) c.426+3A>T (n.426+3A>T) | |
7 | g.94404897G>A | CA162914496 | COL1A2 | c.432+5G>A (n.432+5G>A) c.426+5G>A (n.426+5G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.94404897G= | CA1726792276 | COL1A2 | c.432+5G= (n.432+5G=) c.426+5G= (n.426+5G=) | |
7 | g.94404898T>C | CA162914497 | COL1A2 | c.432+6T>C (n.432+6T>C) c.426+6T>C (n.426+6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404898T= | CA1726792277 | COL1A2 | c.432+6T= (n.432+6T=) c.426+6T= (n.426+6T=) | |
7 | g.94404902T>A | CA2683767122 | COL1A2 | c.432+10T>A (n.432+10T>A) c.426+10T>A (n.426+10T>A) | gnomAD v4 |
7 | g.94404903A= | CA1726792278 | COL1A2 | c.432+11A= (n.432+11A=) c.426+11A= (n.426+11A=) | |
7 | g.94404903A>G | CA576321563 | COL1A2 | c.432+11A>G (n.432+11A>G) c.426+11A>G (n.426+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404903A>T | CA576321564 | COL1A2 | c.432+11A>T (n.432+11A>T) c.426+11A>T (n.426+11A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404904C= | CA1726792279 | COL1A2 | c.432+12C= (n.432+12C=) c.426+12C= (n.426+12C=) | |
7 | g.94404904C>T | CA576321565 | COL1A2 | c.432+12C>T (n.432+12C>T) c.426+12C>T (n.426+12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404905T>C | CA456487367 | COL1A2 | c.432+13T>C (n.432+13T>C) c.426+13T>C (n.426+13T>C) | gnomAD v4 |
7 | g.94404908T>A | CA2580077878 | COL1A2 | c.432+16T>A (n.432+16T>A) c.426+16T>A (n.426+16T>A) | ClinVar |
7 | g.94404908T>C | CA576321566 | COL1A2 | c.432+16T>C (n.432+16T>C) c.426+16T>C (n.426+16T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404908T= | CA1726792280 | COL1A2 | c.432+16T= (n.432+16T=) c.426+16T= (n.426+16T=) | |
7 | g.94404911G>A | CA2683767123 | COL1A2 | c.432+19G>A (n.432+19G>A) c.426+19G>A (n.426+19G>A) | gnomAD v4 |
7 | g.94404912C>A | CA2683767124 | COL1A2 | c.432+20C>A (n.432+20C>A) c.426+20C>A (n.426+20C>A) | gnomAD v4 |
7 | g.94404912C= | CA1726792281 | COL1A2 | c.432+20C= (n.432+20C=) c.426+20C= (n.426+20C=) | |
7 | g.94404912C>G | CA2683767125 | COL1A2 | c.432+20C>G (n.432+20C>G) c.426+20C>G (n.426+20C>G) | gnomAD v4 |
7 | g.94404912C>T | CA162914516 | COL1A2 | c.432+20C>T (n.432+20C>T) c.426+20C>T (n.426+20C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404913A>C | CA2578941499 | COL1A2 | c.432+21A>C (n.432+21A>C) c.426+21A>C (n.426+21A>C) | gnomAD v4 |
7 | g.94404914C>T | CA2683767126 | COL1A2 | c.432+22C>T (n.432+22C>T) c.426+22C>T (n.426+22C>T) | gnomAD v4 |
7 | g.94404918C>A | CA2683767127 | COL1A2 | c.432+26C>A (n.432+26C>A) c.426+26C>A (n.426+26C>A) | gnomAD v4 |
7 | g.94404920A>G | CA2683767128 | COL1A2 | c.432+28A>G (n.432+28A>G) c.426+28A>G (n.426+28A>G) | gnomAD v4 |
7 | g.94404922A= | CA1726792282 | COL1A2 | c.432+30A= (n.432+30A=) c.426+30A= (n.426+30A=) | |
7 | g.94404922A>G | CA4346667 | COL1A2 | c.432+30A>G (n.432+30A>G) c.426+30A>G (n.426+30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404923T>C | CA576321567 | COL1A2 | c.432+31T>C (n.432+31T>C) c.426+31T>C (n.426+31T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404923T= | CA1726792283 | COL1A2 | c.432+31T= (n.432+31T=) c.426+31T= (n.426+31T=) | |
7 | g.94404924G>A | CA4346668 | COL1A2 | c.432+32G>A (n.432+32G>A) c.426+32G>A (n.426+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404924G>C | CA162914563 | COL1A2 | c.432+32G>C (n.432+32G>C) c.426+32G>C (n.426+32G>C) | dbSNP |
7 | g.94404924G= | CA1726792284 | COL1A2 | c.432+32G= (n.432+32G=) c.426+32G= (n.426+32G=) | |
7 | g.94404924G>T | CA2714995605 | COL1A2 | c.432+32G>T (n.432+32G>T) c.426+32G>T (n.426+32G>T) | dbSNP |
7 | g.94404925C= | CA1726792285 | COL1A2 | c.432+33C= (n.432+33C=) c.426+33C= (n.426+33C=) | |
7 | g.94404925C>T | CA843998884 | COL1A2 | c.432+33C>T (n.432+33C>T) c.426+33C>T (n.426+33C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404928T>C | CA4346669 | COL1A2 | c.432+36T>C (n.432+36T>C) c.426+36T>C (n.426+36T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404928T= | CA1726792286 | COL1A2 | c.432+36T= (n.432+36T=) c.426+36T= (n.426+36T=) | |
7 | g.94404931A= | CA1726792287 | COL1A2 | c.432+39A= (n.432+39A=) c.426+39A= (n.426+39A=) | |
7 | g.94404931A>T | CA576321568 | COL1A2 | c.432+39A>T (n.432+39A>T) c.426+39A>T (n.426+39A>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404932A>G | CA2776991051 | COL1A2 | c.432+40A>G (n.432+40A>G) c.426+40A>G (n.426+40A>G) | |
7 | g.94404935A>G | CA2683767129 | COL1A2 | c.432+43A>G (n.432+43A>G) c.426+43A>G (n.426+43A>G) | gnomAD v4 |
7 | g.94404936C>A | CA2683767130 | COL1A2 | c.432+44C>A (n.432+44C>A) c.426+44C>A (n.426+44C>A) | gnomAD v4 |
7 | g.94404936C= | CA1726792288 | COL1A2 | c.432+44C= (n.432+44C=) c.426+44C= (n.426+44C=) | |
7 | g.94404936C>T | CA4346670 | COL1A2 | c.432+44C>T (n.432+44C>T) c.426+44C>T (n.426+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404939T>C | CA2501482111 | COL1A2 | c.432+47T>C (n.432+47T>C) c.426+47T>C (n.426+47T>C) | |
7 | g.94404940T>A | CA2683767131 | COL1A2 | c.432+48T>A (n.432+48T>A) c.426+48T>A (n.426+48T>A) | gnomAD v4 |
7 | g.94404940T>C | CA2578941500 | COL1A2 | c.432+48T>C (n.432+48T>C) c.426+48T>C (n.426+48T>C) | |
7 | g.94404941G>T | CA2683767132 | COL1A2 | c.432+49G>T (n.432+49G>T) c.426+49G>T (n.426+49G>T) | gnomAD v4 |
7 | g.94404942C>A | CA576321569 | COL1A2 | c.432+50C>A (n.432+50C>A) c.426+50C>A (n.426+50C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404942C= | CA1726792289 | COL1A2 | c.432+50C= (n.432+50C=) c.426+50C= (n.426+50C=) | |
7 | g.94404942C>T | CA2683767133 | COL1A2 | c.432+50C>T (n.432+50C>T) c.426+50C>T (n.426+50C>T) | gnomAD v4 |
7 | g.94404943C>A | CA2532709819 | COL1A2 | c.432+51C>A (n.432+51C>A) c.426+51C>A (n.426+51C>A) | |
7 | g.94404944T>A | CA4346671 | COL1A2 | c.432+52T>A (n.432+52T>A) c.426+52T>A (n.426+52T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404944T= | CA1726792290 | COL1A2 | c.432+52T= (n.432+52T=) c.426+52T= (n.426+52T=) | |
7 | g.94404946A>T | CA2776991052 | COL1A2 | c.432+54A>T (n.432+54A>T) c.426+54A>T (n.426+54A>T) | |
7 | g.94404948_94404949del | CA2556404384 | COL1A2 | c.432+56_432+57del (n.432+56_432+57del) c.426+56_426+57del (n.426+56_426+57del) | |
7 | g.94404948C>A | CA2565442793 | COL1A2 | c.432+56C>A (n.432+56C>A) c.426+56C>A (n.426+56C>A) | |
7 | g.94404948C>T | CA2683767134 | COL1A2 | c.432+56C>T (n.432+56C>T) c.426+56C>T (n.426+56C>T) | dbSNP gnomAD v4 |
7 | g.94404949A= | CA1726792291 | COL1A2 | c.432+57A= (n.432+57A=) c.426+57A= (n.426+57A=) | |
7 | g.94404949A>C | CA1104605272 | COL1A2 | c.432+57A>C (n.432+57A>C) c.426+57A>C (n.426+57A>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404949A>G | CA1104605274 | COL1A2 | c.432+57A>G (n.432+57A>G) c.426+57A>G (n.426+57A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404950_94404951insTGG | CA2539434795 | COL1A2 | c.432+58_432+59insTGG (n.432+58_432+59insTGG) c.426+58_426+59insTGG (n.426+58_426+59insTGG) | |
7 | g.94404952A= | CA1726792292 | COL1A2 | c.432+60A= (n.432+60A=) c.426+60A= (n.426+60A=) | |
7 | g.94404952A>G | CA162914576 | COL1A2 | c.432+60A>G (n.432+60A>G) c.426+60A>G (n.426+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404952A>T | CA1104605287 | COL1A2 | c.432+60A>T (n.432+60A>T) c.426+60A>T (n.426+60A>T) | dbSNP |
7 | g.94404953T>A | CA2514974668 | COL1A2 | c.432+61T>A (n.432+61T>A) c.426+61T>A (n.426+61T>A) | |
7 | g.94404953T>C | CA2578941501 | COL1A2 | c.432+61T>C (n.432+61T>C) c.426+61T>C (n.426+61T>C) | |
7 | g.94404953T>G | CA162914582 | COL1A2 | c.432+61T>G (n.432+61T>G) c.426+61T>G (n.426+61T>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404953T= | CA1726792293 | COL1A2 | c.432+61T= (n.432+61T=) c.426+61T= (n.426+61T=) | |
7 | g.94404954_94404961delinsTTTCTAGA | CA1726792294 | COL1A2 | c.432+62_432+69delinsTTTCTAGA (n.432+62_432+69delinsTTTCTAGA) c.426+62_426+69delinsTTTCTAGA (n.426+62_426+69delinsTTTCTAGA) | |
7 | g.94404955T>C | CA1104605295 | COL1A2 | c.432+63T>C (n.432+63T>C) c.426+63T>C (n.426+63T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404955T= | CA1726792296 | COL1A2 | c.432+63T= (n.432+63T=) c.426+63T= (n.426+63T=) | |
7 | g.94404958_94404964del | CA1726792295 | COL1A2 | c.432+66_432+72del (n.432+66_432+72del) c.426+66_426+72del (n.426+66_426+72del) | dbSNP |
7 | g.94404955_94404956insAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCG | CA2683767135 | COL1A2 | c.432+63_432+64insAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCG (n.432+63_432+64insAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCG) c.426+63_426+64insAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCG (n.426+63_426+64insAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCG) | gnomAD v4 |
7 | g.94404956T>A | CA162914590 | COL1A2 | c.432+64T>A (n.432+64T>A) c.426+64T>A (n.426+64T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404956T>C | CA843998891 | COL1A2 | c.432+64T>C (n.432+64T>C) c.426+64T>C (n.426+64T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404956T= | CA1726792297 | COL1A2 | c.432+64T= (n.432+64T=) c.426+64T= (n.426+64T=) | |
7 | g.94404957C>G | CA2683767136 | COL1A2 | c.432+65C>G (n.432+65C>G) c.426+65C>G (n.426+65C>G) | gnomAD v4 |
7 | g.94404957C>T | CA2683767137 | COL1A2 | c.432+65C>T (n.432+65C>T) c.426+65C>T (n.426+65C>T) | gnomAD v4 |
7 | g.94404958T>C | CA2683767138 | COL1A2 | c.432+66T>C (n.432+66T>C) c.426+66T>C (n.426+66T>C) | gnomAD v4 |
7 | g.94404959A>G | CA2578941502 | COL1A2 | c.432+67A>G (n.432+67A>G) c.426+67A>G (n.426+67A>G) | |
7 | g.94404960G>T | CA2566487525 | COL1A2 | c.432+68G>T (n.432+68G>T) c.426+68G>T (n.426+68G>T) | |
7 | g.94404962T>C | CA2683767139 | COL1A2 | c.432+70T>C (n.432+70T>C) c.426+70T>C (n.426+70T>C) | gnomAD v4 |
7 | g.94404963T>A | CA1726792298 | COL1A2 | c.432+71T>A (n.432+71T>A) c.426+71T>A (n.426+71T>A) | dbSNP |
7 | g.94404963T= | CA1726792299 | COL1A2 | c.432+71T= (n.432+71T=) c.426+71T= (n.426+71T=) | |
7 | g.94404964C>A | CA2578941503 | COL1A2 | c.432+72C>A (n.432+72C>A) c.426+72C>A (n.426+72C>A) | gnomAD v4 |
7 | g.94404964C= | CA1726792300 | COL1A2 | c.432+72C= (n.432+72C=) c.426+72C= (n.426+72C=) | |
7 | g.94404964C>T | CA1726792301 | COL1A2 | c.432+72C>T (n.432+72C>T) c.426+72C>T (n.426+72C>T) | dbSNP gnomAD v4 |
7 | g.94404967A= | CA1726792302 | COL1A2 | c.432+75A= (n.432+75A=) c.426+75A= (n.426+75A=) | |
7 | g.94404967A>G | CA843998898 | COL1A2 | c.432+75A>G (n.432+75A>G) c.426+75A>G (n.426+75A>G) | dbSNP gnomAD v4 |
7 | g.94404969T>A | CA2578941504 | COL1A2 | c.432+77T>A (n.432+77T>A) c.426+77T>A (n.426+77T>A) | |
7 | g.94404969T>G | CA2532710469 | COL1A2 | c.432+77T>G (n.432+77T>G) c.426+77T>G (n.426+77T>G) | |
7 | g.94404970A>C | CA2683767140 | COL1A2 | c.432+78A>C (n.432+78A>C) c.426+78A>C (n.426+78A>C) | gnomAD v4 |
7 | g.94404971A= | CA1726792303 | COL1A2 | c.432+79A= (n.432+79A=) c.426+79A= (n.426+79A=) | |
7 | g.94404971A>C | CA843998901 | COL1A2 | c.432+79A>C (n.432+79A>C) c.426+79A>C (n.426+79A>C) | dbSNP gnomAD v4 |
7 | g.94404971A>T | CA162914594 | COL1A2 | c.432+79A>T (n.432+79A>T) c.426+79A>T (n.426+79A>T) | dbSNP gnomAD v3 gnomAD v4 |