11 | g.102867260del | CA2615732086 | MMP12 | c.911+13del (n.911+13del)
| gnomAD v4 |
11 | g.102867260A= | CA1996274278 | MMP12 | c.911+10T= (n.911+10T=)
| |
11 | g.102867260A>G | CA1996274279 | MMP12 | c.911+10T>C (n.911+10T>C)
| dbSNP gnomAD v4 |
11 | g.102867261T>C | CA2615732093 | MMP12 | c.911+9A>G (n.911+9A>G)
| gnomAD v4 |
11 | g.102867262G>A | CA2615732094 | MMP12 | c.911+8C>T (n.911+8C>T)
| gnomAD v4 |
11 | g.102867262G>T | CA2615732095 | MMP12 | c.911+8C>A (n.911+8C>A)
| gnomAD v4 |
11 | g.102867263A= | CA1996274280 | MMP12 | c.911+7T= (n.911+7T=)
| |
11 | g.102867263A>C | CA670882625 | MMP12 | c.911+7T>G (n.911+7T>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.102867264T>A | CA6251435 | MMP12 | c.911+6A>T (n.911+6A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867264T= | CA1996274281 | MMP12 | c.911+6A= (n.911+6A=)
| |
11 | g.102867265C>A | CA601219214 | MMP12 | c.911+5G>T (n.911+5G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867265C= | CA1996274282 | MMP12 | c.911+5G= (n.911+5G=)
| |
11 | g.102867266C>A | CA2615732100 | MMP12 | c.911+4G>T (n.911+4G>T)
| gnomAD v4 |
11 | g.102867267T>C | CA6251436 | MMP12 | c.911+3A>G (n.911+3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867267T= | CA1996274283 | MMP12 | c.911+3A= (n.911+3A=)
| |
11 | g.102867268A>C | CA382236663 | MMP12 | c.911+2T>G (n.911+2T>G)
| |
11 | g.102867268A>G | CA382236664 | MMP12 | c.911+2T>C (n.911+2T>C)
| gnomAD v4 |
11 | g.102867268A>T | CA382236665 | MMP12 | c.911+2T>A (n.911+2T>A)
| |
11 | g.102867269C>A | CA382236666 | MMP12 | c.911+1G>T (n.911+1G>T)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867269C= | CA1996274284 | MMP12 | c.911+1G= (n.911+1G=)
| |
11 | g.102867269C>G | CA382236667 | MMP12 | c.911+1G>C (n.911+1G>C)
| gnomAD v4 |
11 | g.102867269C>T | CA382236668 | MMP12 | c.911+1G>A (n.911+1G>A)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867270C>A | CA382236670 | MMP12 | c.911G>T (p.Arg304Met)
| |
11 | g.102867270C>G | CA382236671 | MMP12 | c.911G>C (p.Arg304Thr)
| |
11 | g.102867270C>T | CA382236669 | MMP12 | c.911G>A (p.Arg304Lys)
| |
11 | g.102867271T>A | CA382236673 | MMP12 | c.910A>T (p.Arg304Trp)
| |
11 | g.102867271T>C | CA382236672 | MMP12 | c.910A>G (p.Arg304Gly)
| |
11 | g.102867271T>G | CA476586125 | MMP12 | c.910A>C (p.Arg304=)
| |
11 | g.102867271dup | CA2575002842 | MMP12 | c.910dup (p.Arg304LysfsTer9)
| gnomAD v4 |
11 | g.102867272_102867273del | CA2615732107 | MMP12 | c.909_910del (p.Asp303GlufsTer9)
| gnomAD v4 |
11 | g.102867272G>A | CA227362553 | MMP12 | c.909C>T (p.Asp303=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.102867272G>C | CA382236674 | MMP12 | c.909C>G (p.Asp303Glu)
| |
11 | g.102867272G= | CA1996274285 | MMP12 | c.909C= (p.Asp303=)
| |
11 | g.102867272G>T | CA382236675 | MMP12 | c.909C>A (p.Asp303Glu)
| gnomAD v4 |
11 | g.102867273T>A | CA382236676 | MMP12 | c.908A>T (p.Asp303Val)
| |
11 | g.102867273T>C | CA382236677 | MMP12 | c.908A>G (p.Asp303Gly)
| |
11 | g.102867273T>G | CA382236678 | MMP12 | c.908A>C (p.Asp303Ala)
| |
11 | g.102867274C>A | CA382236679 | MMP12 | c.907G>T (p.Asp303Tyr)
| gnomAD v4 |
11 | g.102867274C>G | CA382236680 | MMP12 | c.907G>C (p.Asp303His)
| |
11 | g.102867274C>T | CA382236681 | MMP12 | c.907G>A (p.Asp303Asn)
| |
11 | g.102867275T>A | CA382236682 | MMP12 | c.906A>T (p.Lys302Asn)
| |
11 | g.102867275T>C | CA476586142 | MMP12 | c.906A>G (p.Lys302=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867275T>G | CA382236683 | MMP12 | c.906A>C (p.Lys302Asn)
| gnomAD v4 |
11 | g.102867275T= | CA1996274286 | MMP12 | c.906A= (p.Lys302=)
| |
11 | g.102867276T>A | CA382236686 | MMP12 | c.905A>T (p.Lys302Ile)
| |
11 | g.102867276T>C | CA382236685 | MMP12 | c.905A>G (p.Lys302Arg)
| dbSNP gnomAD v2 |
11 | g.102867276T>G | CA382236684 | MMP12 | c.905A>C (p.Lys302Thr)
| gnomAD v4 |
11 | g.102867276T= | CA1996274287 | MMP12 | c.905A= (p.Lys302=)
| |
11 | g.102867277T>A | CA382236687 | MMP12 | c.904A>T (p.Lys302Ter)
| |
11 | g.102867277T>C | CA382236688 | MMP12 | c.904A>G (p.Lys302Glu)
| gnomAD v4 |
11 | g.102867277T>G | CA382236689 | MMP12 | c.904A>C (p.Lys302Gln)
| |
11 | g.102867278G>A | CA476586155 | MMP12 | c.903C>T (p.Phe301=)
| |
11 | g.102867278G>C | CA382236690 | MMP12 | c.903C>G (p.Phe301Leu)
| |
11 | g.102867278G>T | CA382236691 | MMP12 | c.903C>A (p.Phe301Leu)
| gnomAD v4 |
11 | g.102867279A>C | CA382236692 | MMP12 | c.902T>G (p.Phe301Cys)
| |
11 | g.102867279A>G | CA382236693 | MMP12 | c.902T>C (p.Phe301Ser)
| |
11 | g.102867279A>T | CA382236694 | MMP12 | c.902T>A (p.Phe301Tyr)
| |
11 | g.102867280A>C | CA382236695 | MMP12 | c.901T>G (p.Phe301Val)
| |
11 | g.102867280A>G | CA382236696 | MMP12 | c.901T>C (p.Phe301Leu)
| gnomAD v4 |
11 | g.102867280A>T | CA382236697 | MMP12 | c.901T>A (p.Phe301Ile)
| |
11 | g.102867281G>A | CA476586170 | MMP12 | c.900C>T (p.Phe300=)
| gnomAD v4 |
11 | g.102867281G>C | CA382236698 | MMP12 | c.900C>G (p.Phe300Leu)
| |
11 | g.102867281G= | CA1996274288 | MMP12 | c.900C= (p.Phe300=)
| |
11 | g.102867281G>T | CA6251437 | MMP12 | c.900C>A (p.Phe300Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867282A= | CA1996274289 | MMP12 | c.899T= (p.Phe300=)
| |
11 | g.102867282A>C | CA382236700 | MMP12 | c.899T>G (p.Phe300Cys)
| |
11 | g.102867282A>G | CA382236701 | MMP12 | c.899T>C (p.Phe300Ser)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.102867282A>T | CA382236699 | MMP12 | c.899T>A (p.Phe300Tyr)
| |
11 | g.102867283A>C | CA382236702 | MMP12 | c.898T>G (p.Phe300Val)
| |
11 | g.102867283A>G | CA382236703 | MMP12 | c.898T>C (p.Phe300Leu)
| |
11 | g.102867283A>T | CA382236704 | MMP12 | c.898T>A (p.Phe300Ile)
| |
11 | g.102867284A= | CA1996274290 | MMP12 | c.897T= (p.Phe299=)
| |
11 | g.102867284A>C | CA382236705 | MMP12 | c.897T>G (p.Phe299Leu)
| |
11 | g.102867284A>G | CA6251438 | MMP12 | c.897T>C (p.Phe299=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867284A>T | CA227362560 | MMP12 | c.897T>A (p.Phe299Leu)
| dbSNP |
11 | g.102867285A>C | CA382236706 | MMP12 | c.896T>G (p.Phe299Cys)
| |
11 | g.102867285A>G | CA382236707 | MMP12 | c.896T>C (p.Phe299Ser)
| |
11 | g.102867285A>T | CA382236708 | MMP12 | c.896T>A (p.Phe299Tyr)
| |
11 | g.102867286A>C | CA382236709 | MMP12 | c.895T>G (p.Phe299Val)
| |
11 | g.102867286A>G | CA382236710 | MMP12 | c.895T>C (p.Phe299Leu)
| gnomAD v4 |
11 | g.102867286A>T | CA382236711 | MMP12 | c.895T>A (p.Phe299Ile)
| |
11 | g.102867287G>A | CA476586195 | MMP12 | c.894C>T (p.Ile298=)
| |
11 | g.102867287G>C | CA382236712 | MMP12 | c.894C>G (p.Ile298Met)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867287G= | CA1996274291 | MMP12 | c.894C= (p.Ile298=)
| |
11 | g.102867287G>T | CA6251439 | MMP12 | c.894C>A (p.Ile298=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867288A= | CA1996274292 | MMP12 | c.893T= (p.Ile298=)
| |
11 | g.102867288A>C | CA382236714 | MMP12 | c.893T>G (p.Ile298Ser)
| |
11 | g.102867288A>G | CA382236713 | MMP12 | c.893T>C (p.Ile298Thr)
| |
11 | g.102867288A>T | CA6251440 | MMP12 | c.893T>A (p.Ile298Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867289T>A | CA382236715 | MMP12 | c.892A>T (p.Ile298Phe)
| |
11 | g.102867289T>C | CA382236716 | MMP12 | c.892A>G (p.Ile298Val)
| gnomAD v4 |
11 | g.102867289T>G | CA382236717 | MMP12 | c.892A>C (p.Ile298Leu)
| |
11 | g.102867290C>A | CA382236718 | MMP12 | c.891G>T (p.Lys297Asn)
| dbSNP |
11 | g.102867290C= | CA1996274293 | MMP12 | c.891G= (p.Lys297=)
| |
11 | g.102867290C>G | CA382236719 | MMP12 | c.891G>C (p.Lys297Asn)
| |
11 | g.102867290C>T | CA476586212 | MMP12 | c.891G>A (p.Lys297=)
| |
11 | g.102867291T>A | CA382236720 | MMP12 | c.890A>T (p.Lys297Met)
| |
11 | g.102867291T>C | CA227362582 | MMP12 | c.890A>G (p.Lys297Arg)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867291T>G | CA382236721 | MMP12 | c.890A>C (p.Lys297Thr)
| |
11 | g.102867291T= | CA1996274294 | MMP12 | c.890A= (p.Lys297=)
| |
11 | g.102867292T>A | CA382236722 | MMP12 | c.889A>T (p.Lys297Ter)
| |
11 | g.102867292T>C | CA382236723 | MMP12 | c.889A>G (p.Lys297Glu)
| |
11 | g.102867292T>G | CA382236724 | MMP12 | c.889A>C (p.Lys297Gln)
| |
11 | g.102867293A= | CA1996274295 | MMP12 | c.888T= (p.Asn296=)
| |
11 | g.102867293A>C | CA382236725 | MMP12 | c.888T>G (p.Asn296Lys)
| |
11 | g.102867293A>G | CA476586225 | MMP12 | c.888T>C (p.Asn296=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.102867293A>T | CA382236726 | MMP12 | c.888T>A (p.Asn296Lys)
| |
11 | g.102867294T>A | CA382236727 | MMP12 | c.887A>T (p.Asn296Ile)
| |
11 | g.102867294T>C | CA6251441 | MMP12 | c.887A>G (p.Asn296Ser)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.102867294T>G | CA382236728 | MMP12 | c.887A>C (p.Asn296Thr)
| |
11 | g.102867294T= | CA1996274296 | MMP12 | c.887A= (p.Asn296=)
| |
11 | g.102867295T>A | CA382236729 | MMP12 | c.886A>T (p.Asn296Tyr)
| gnomAD v4 |
11 | g.102867295T>C | CA382236731 | MMP12 | c.886A>G (p.Asn296Asp)
| |
11 | g.102867295T>G | CA382236730 | MMP12 | c.886A>C (p.Asn296His)
| |
11 | g.102867296T>A | CA476586240 | MMP12 | c.885A>T (p.Gly295=)
| |
11 | g.102867296T>C | CA476586241 | MMP12 | c.885A>G (p.Gly295=)
| |
11 | g.102867296T>G | CA476586244 | MMP12 | c.885A>C (p.Gly295=)
| |
11 | g.102867297C>A | CA382236732 | MMP12 | c.884G>T (p.Gly295Val)
| dbSNP |
11 | g.102867297C>G | CA382236734 | MMP12 | c.884G>C (p.Gly295Ala)
| |
11 | g.102867297C>T | CA382236733 | MMP12 | c.884G>A (p.Gly295Glu)
| gnomAD v4 |
11 | g.102867298C>A | CA382236735 | MMP12 | c.883G>T (p.Gly295Ter)
| |
11 | g.102867298C>G | CA382236736 | MMP12 | c.883G>C (p.Gly295Arg)
| |
11 | g.102867298C>T | CA382236737 | MMP12 | c.883G>A (p.Gly295Arg)
| dbSNP gnomAD v4 |
11 | g.102867299C>A | CA476586258 | MMP12 | c.882G>T (p.Val294=)
| gnomAD v4 |
11 | g.102867299C= | CA1996274297 | MMP12 | c.882G= (p.Val294=)
| |
11 | g.102867299C>G | CA476586260 | MMP12 | c.882G>C (p.Val294=)
| |
11 | g.102867299C>T | CA476586256 | MMP12 | c.882G>A (p.Val294=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867299_102867308delinsCACGGTAGTG | CA1996274298 | MMP12 | c.873_882delinsCACTACCGTG (p.Val291=)
| |
11 | g.102867300A>C | CA382236738 | MMP12 | c.881T>G (p.Val294Gly)
| |
11 | g.102867300A>G | CA382236739 | MMP12 | c.881T>C (p.Val294Ala)
| |
11 | g.102867300A>T | CA382236740 | MMP12 | c.881T>A (p.Val294Glu)
| |
11 | g.102867302_102867310del | CA6251442 | MMP12 | c.873_881del (p.Thr292_Val294del)
| dbSNP ExAC gnomAD v2 |
11 | g.102867301C>A | CA382236741 | MMP12 | c.880G>T (p.Val294Leu)
| dbSNP gnomAD v2 |
11 | g.102867301C= | CA1996274299 | MMP12 | c.880G= (p.Val294=)
| |
11 | g.102867301C>G | CA382236742 | MMP12 | c.880G>C (p.Val294Leu)
| |
11 | g.102867301C>T | CA6251443 | MMP12 | c.880G>A (p.Val294Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867302G>A | CA6251444 | MMP12 | c.879C>T (p.Thr293=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867302G>C | CA476586273 | MMP12 | c.879C>G (p.Thr293=)
| |
11 | g.102867302G= | CA1996274300 | MMP12 | c.879C= (p.Thr293=)
| |
11 | g.102867302G>T | CA476586276 | MMP12 | c.879C>A (p.Thr293=)
| dbSNP gnomAD v4 |
11 | g.102867303G>A | CA382236743 | MMP12 | c.878C>T (p.Thr293Ile)
| gnomAD v4 |
11 | g.102867303G>C | CA382236744 | MMP12 | c.878C>G (p.Thr293Ser)
| |
11 | g.102867303G= | CA1996274301 | MMP12 | c.878C= (p.Thr293=)
| |
11 | g.102867303G>T | CA227362618 | MMP12 | c.878C>A (p.Thr293Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867304T>A | CA382236745 | MMP12 | c.877A>T (p.Thr293Ser)
| |
11 | g.102867304T>C | CA382236747 | MMP12 | c.877A>G (p.Thr293Ala)
| |
11 | g.102867304T>G | CA382236746 | MMP12 | c.877A>C (p.Thr293Pro)
| |
11 | g.102867305A= | CA1996274302 | MMP12 | c.876T= (p.Thr292=)
| |
11 | g.102867305A>C | CA227362626 | MMP12 | c.876T>G (p.Thr292=)
| dbSNP gnomAD v4 |
11 | g.102867305A>G | CA476586288 | MMP12 | c.876T>C (p.Thr292=)
| |
11 | g.102867305A>T | CA476586290 | MMP12 | c.876T>A (p.Thr292=)
| |
11 | g.102867306G>A | CA382236748 | MMP12 | c.875C>T (p.Thr292Ile)
| gnomAD v4 |
11 | g.102867306G>C | CA382236749 | MMP12 | c.875C>G (p.Thr292Ser)
| |
11 | g.102867306G>T | CA382236750 | MMP12 | c.875C>A (p.Thr292Asn)
| |
11 | g.102867307T>A | CA382236751 | MMP12 | c.874A>T (p.Thr292Ser)
| |
11 | g.102867307T>C | CA382236752 | MMP12 | c.874A>G (p.Thr292Ala)
| |
11 | g.102867307T>G | CA382236753 | MMP12 | c.874A>C (p.Thr292Pro)
| |
11 | g.102867308G>A | CA476586301 | MMP12 | c.873C>T (p.Val291=)
| |
11 | g.102867308G>C | CA476586303 | MMP12 | c.873C>G (p.Val291=)
| |
11 | g.102867308G>T | CA476586304 | MMP12 | c.873C>A (p.Val291=)
| gnomAD v4 |
11 | g.102867309A>C | CA382236754 | MMP12 | c.872T>G (p.Val291Gly)
| |
11 | g.102867309A>G | CA382236755 | MMP12 | c.872T>C (p.Val291Ala)
| |
11 | g.102867309A>T | CA382236756 | MMP12 | c.872T>A (p.Val291Asp)
| |
11 | g.102867310C>A | CA382236757 | MMP12 | c.871G>T (p.Val291Phe)
| |
11 | g.102867310C= | CA1996274303 | MMP12 | c.871G= (p.Val291=)
| |
11 | g.102867310C>G | CA227362630 | MMP12 | c.871G>C (p.Val291Leu)
| dbSNP gnomAD v4 |
11 | g.102867310C>T | CA6251445 | MMP12 | c.871G>A (p.Val291Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867311A= | CA1996274304 | MMP12 | c.870T= (p.Ala290=)
| |
11 | g.102867311A>C | CA476586314 | MMP12 | c.870T>G (p.Ala290=)
| |
11 | g.102867311A>G | CA476586316 | MMP12 | c.870T>C (p.Ala290=)
| dbSNP gnomAD v2 |
11 | g.102867311A>T | CA476586318 | MMP12 | c.870T>A (p.Ala290=)
| gnomAD v4 |
11 | g.102867312G>A | CA6251446 | MMP12 | c.869C>T (p.Ala290Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867312G>C | CA382236758 | MMP12 | c.869C>G (p.Ala290Gly)
| |
11 | g.102867312G= | CA1996274305 | MMP12 | c.869C= (p.Ala290=)
| |
11 | g.102867312G>T | CA382236759 | MMP12 | c.869C>A (p.Ala290Asp)
| |
11 | g.102867313C>A | CA382236760 | MMP12 | c.868G>T (p.Ala290Ser)
| |
11 | g.102867313C>G | CA382236761 | MMP12 | c.868G>C (p.Ala290Pro)
| gnomAD v4 |
11 | g.102867313C>T | CA382236762 | MMP12 | c.868G>A (p.Ala290Thr)
| gnomAD v4 |
11 | g.102867314A= | CA1996274306 | MMP12 | c.867T= (p.Asp289=)
| |
11 | g.102867314A>C | CA382236764 | MMP12 | c.867T>G (p.Asp289Glu)
| |
11 | g.102867314A>G | CA6251447 | MMP12 | c.867T>C (p.Asp289=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867314A>T | CA382236763 | MMP12 | c.867T>A (p.Asp289Glu)
| |
11 | g.102867315T>A | CA382236765 | MMP12 | c.866A>T (p.Asp289Val)
| |
11 | g.102867315T>C | CA382236766 | MMP12 | c.866A>G (p.Asp289Gly)
| |
11 | g.102867315T>G | CA382236767 | MMP12 | c.866A>C (p.Asp289Ala)
| |
11 | g.102867316C>A | CA382236768 | MMP12 | c.865G>T (p.Asp289Tyr)
| gnomAD v4 |
11 | g.102867316C>G | CA382236769 | MMP12 | c.865G>C (p.Asp289His)
| |
11 | g.102867316C>T | CA382236770 | MMP12 | c.865G>A (p.Asp289Asn)
| |
11 | g.102867317A= | CA1996274307 | MMP12 | c.864T= (p.Phe288=)
| |
11 | g.102867317A>C | CA382236771 | MMP12 | c.864T>G (p.Phe288Leu)
| |
11 | g.102867317A>G | CA6251448 | MMP12 | c.864T>C (p.Phe288=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867317A>T | CA382236772 | MMP12 | c.864T>A (p.Phe288Leu)
| |
11 | g.102867318A>C | CA382236773 | MMP12 | c.863T>G (p.Phe288Cys)
| |
11 | g.102867318A>G | CA382236774 | MMP12 | c.863T>C (p.Phe288Ser)
| |
11 | g.102867318A>T | CA382236775 | MMP12 | c.863T>A (p.Phe288Tyr)
| |
11 | g.102867319A>C | CA382236776 | MMP12 | c.862T>G (p.Phe288Val)
| |
11 | g.102867319A>G | CA382236777 | MMP12 | c.862T>C (p.Phe288Leu)
| |
11 | g.102867319A>T | CA382236778 | MMP12 | c.862T>A (p.Phe288Ile)
| |
11 | g.102867320A= | CA1996274308 | MMP12 | c.861T= (p.Ser287=)
| |
11 | g.102867320A>C | CA382236779 | MMP12 | c.861T>G (p.Ser287Arg)
| |
11 | g.102867320A>G | CA476586357 | MMP12 | c.861T>C (p.Ser287=)
| gnomAD v4 |
11 | g.102867320A>T | CA382236780 | MMP12 | c.861T>A (p.Ser287Arg)
| |
11 | g.102867320_102867321insG | CA6251449 | MMP12 | c.860_861insC (p.Asp289Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867321C>A | CA382236781 | MMP12 | c.860G>T (p.Ser287Ile)
| |
11 | g.102867321C>G | CA382236782 | MMP12 | c.860G>C (p.Ser287Thr)
| |
11 | g.102867321C>T | CA382236783 | MMP12 | c.860G>A (p.Ser287Asn)
| |
11 | g.102867322T>A | CA382236785 | MMP12 | c.859A>T (p.Ser287Cys)
| |
11 | g.102867322T>C | CA6251450 | MMP12 | c.859A>G (p.Ser287Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867322T>G | CA382236784 | MMP12 | c.859A>C (p.Ser287Arg)
| |
11 | g.102867322T= | CA1996274309 | MMP12 | c.859A= (p.Ser287=)
| |
11 | g.102867323C>A | CA382236786 | MMP12 | c.858G>T (p.Leu286Phe)
| |
11 | g.102867323C= | CA1996274310 | MMP12 | c.858G= (p.Leu286=)
| |
11 | g.102867323C>G | CA382236787 | MMP12 | c.858G>C (p.Leu286Phe)
| |
11 | g.102867323C>T | CA6251451 | MMP12 | c.858G>A (p.Leu286=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867324A>C | CA382236788 | MMP12 | c.857T>G (p.Leu286Trp)
| |
11 | g.102867324A>G | CA382236789 | MMP12 | c.857T>C (p.Leu286Ser)
| |
11 | g.102867324A>T | CA382236790 | MMP12 | c.857T>A (p.Leu286Ter)
| |
11 | g.102867325A>C | CA382236791 | MMP12 | c.856T>G (p.Leu286Val)
| |
11 | g.102867325A>G | CA476586386 | MMP12 | c.856T>C (p.Leu286=)
| |
11 | g.102867325A>T | CA382236792 | MMP12 | c.856T>A (p.Leu286Met)
| |
11 | g.102867326A>C | CA382236793 | MMP12 | c.855T>G (p.Asn285Lys)
| |
11 | g.102867326A>G | CA476586390 | MMP12 | c.855T>C (p.Asn285=)
| gnomAD v4 |
11 | g.102867326A>T | CA382236794 | MMP12 | c.855T>A (p.Asn285Lys)
| |
11 | g.102867327T>A | CA382236795 | MMP12 | c.854A>T (p.Asn285Ile)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867327T>C | CA6251452 | MMP12 | c.854A>G (p.Asn285Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867327T>G | CA382236796 | MMP12 | c.854A>C (p.Asn285Thr)
| |
11 | g.102867327T= | CA1996274311 | MMP12 | c.854A= (p.Asn285=)
| |
11 | g.102867328T>A | CA382236798 | MMP12 | c.853A>T (p.Asn285Tyr)
| |
11 | g.102867328T>C | CA6251453 | MMP12 | c.853A>G (p.Asn285Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867328T>G | CA382236797 | MMP12 | c.853A>C (p.Asn285His)
| |
11 | g.102867328T= | CA1996274312 | MMP12 | c.853A= (p.Asn285=)
| |
11 | g.102867329G>A | CA6251454 | MMP12 | c.852C>T (p.Pro284=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867329G>C | CA476586403 | MMP12 | c.852C>G (p.Pro284=)
| |
11 | g.102867329G= | CA1996274313 | MMP12 | c.852C= (p.Pro284=)
| |
11 | g.102867329G>T | CA476586405 | MMP12 | c.852C>A (p.Pro284=)
| |
11 | g.102867330G>A | CA382236799 | MMP12 | c.851C>T (p.Pro284Leu)
| |
11 | g.102867330G>C | CA382236800 | MMP12 | c.851C>G (p.Pro284Arg)
| |
11 | g.102867330G= | CA1996274314 | MMP12 | c.851C= (p.Pro284=)
| |
11 | g.102867330G>T | CA382236801 | MMP12 | c.851C>A (p.Pro284His)
| dbSNP gnomAD v4 |
11 | g.102867331G>A | CA382236802 | MMP12 | c.850C>T (p.Pro284Ser)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867331G>C | CA382236803 | MMP12 | c.850C>G (p.Pro284Ala)
| |
11 | g.102867331G= | CA1996274315 | MMP12 | c.850C= (p.Pro284=)
| |
11 | g.102867331G>T | CA382236804 | MMP12 | c.850C>A (p.Pro284Thr)
| gnomAD v4 |
11 | g.102867332G>A | CA476586420 | MMP12 | c.849C>T (p.Asp283=)
| gnomAD v4 |
11 | g.102867332G>C | CA382236805 | MMP12 | c.849C>G (p.Asp283Glu)
| |
11 | g.102867332G>T | CA382236806 | MMP12 | c.849C>A (p.Asp283Glu)
| gnomAD v4 |
11 | g.102867333T>A | CA382236807 | MMP12 | c.848A>T (p.Asp283Val)
| |
11 | g.102867333T>C | CA382236808 | MMP12 | c.848A>G (p.Asp283Gly)
| |
11 | g.102867333T>G | CA382236809 | MMP12 | c.848A>C (p.Asp283Ala)
| |
11 | g.102867334C>A | CA382236812 | MMP12 | c.847G>T (p.Asp283Tyr)
| |
11 | g.102867334C>G | CA382236811 | MMP12 | c.847G>C (p.Asp283His)
| |
11 | g.102867334C>T | CA382236810 | MMP12 | c.847G>A (p.Asp283Asn)
| |
11 | g.102867335A= | CA1996274316 | MMP12 | c.846T= (p.Cys282=)
| |
11 | g.102867335A>C | CA382236814 | MMP12 | c.846T>G (p.Cys282Trp)
| dbSNP gnomAD v4 |
11 | g.102867335A>G | CA476586436 | MMP12 | c.846T>C (p.Cys282=)
| gnomAD v4 |
11 | g.102867335A>T | CA382236813 | MMP12 | c.846T>A (p.Cys282Ter)
| |
11 | g.102867336C>A | CA382236815 | MMP12 | c.845G>T (p.Cys282Phe)
| |
11 | g.102867336C>G | CA382236816 | MMP12 | c.845G>C (p.Cys282Ser)
| |
11 | g.102867336C>T | CA382236817 | MMP12 | c.845G>A (p.Cys282Tyr)
| |
11 | g.102867336_102867340delinsCAGAG | CA1996274317 | MMP12 | c.841_845delinsCTCTG (p.Leu281=)
| |
11 | g.102867337A>C | CA382236818 | MMP12 | c.844T>G (p.Cys282Gly)
| |
11 | g.102867337A>G | CA382236819 | MMP12 | c.844T>C (p.Cys282Arg)
| |
11 | g.102867337A>T | CA382236820 | MMP12 | c.844T>A (p.Cys282Ser)
| |
11 | g.102867339_102867342del | CA601219235 | MMP12 | c.841_844del (p.Leu281ValfsTer5)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867338G>A | CA476586446 | MMP12 | c.843C>T (p.Leu281=)
| |
11 | g.102867338G>C | CA476586450 | MMP12 | c.843C>G (p.Leu281=)
| |
11 | g.102867338G>T | CA476586452 | MMP12 | c.843C>A (p.Leu281=)
| |
11 | g.102867339A>C | CA382236821 | MMP12 | c.842T>G (p.Leu281Arg)
| |
11 | g.102867339A>G | CA382236822 | MMP12 | c.842T>C (p.Leu281Pro)
| |
11 | g.102867339A>T | CA382236823 | MMP12 | c.842T>A (p.Leu281His)
| |
11 | g.102867340G>A | CA382236824 | MMP12 | c.841C>T (p.Leu281Phe)
| dbSNP |
11 | g.102867340G>C | CA382236825 | MMP12 | c.841C>G (p.Leu281Val)
| dbSNP |
11 | g.102867340G= | CA1996274318 | MMP12 | c.841C= (p.Leu281=)
| |
11 | g.102867340G>T | CA382236826 | MMP12 | c.841C>A (p.Leu281Ile)
| |
11 | g.102867341A>C | CA476586468 | MMP12 | c.840T>G (p.Ala280=)
| |
11 | g.102867341A>G | CA476586469 | MMP12 | c.840T>C (p.Ala280=)
| |
11 | g.102867341A>T | CA476586471 | MMP12 | c.840T>A (p.Ala280=)
| |
11 | g.102867342G>A | CA382236829 | MMP12 | c.839C>T (p.Ala280Val)
| |
11 | g.102867342G>C | CA382236827 | MMP12 | c.839C>G (p.Ala280Gly)
| |
11 | g.102867342G>T | CA382236828 | MMP12 | c.839C>A (p.Ala280Asp)
| |
11 | g.102867343C>A | CA382236830 | MMP12 | c.838G>T (p.Ala280Ser)
| gnomAD v4 |
11 | g.102867343C>G | CA382236831 | MMP12 | c.838G>C (p.Ala280Pro)
| gnomAD v4 |
11 | g.102867343C>T | CA382236832 | MMP12 | c.838G>A (p.Ala280Thr)
| |
11 | g.102867344T>A | CA476586484 | MMP12 | c.837A>T (p.Pro279=)
| |
11 | g.102867344T>C | CA6251455 | MMP12 | c.837A>G (p.Pro279=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867344T>G | CA476586488 | MMP12 | c.837A>C (p.Pro279=)
| |
11 | g.102867344T= | CA1996274319 | MMP12 | c.837A= (p.Pro279=)
| |
11 | g.102867345G>A | CA382236833 | MMP12 | c.836C>T (p.Pro279Leu)
| gnomAD v4 |
11 | g.102867345G>C | CA382236834 | MMP12 | c.836C>G (p.Pro279Arg)
| |
11 | g.102867345G>T | CA382236835 | MMP12 | c.836C>A (p.Pro279Gln)
| |
11 | g.102867346G>A | CA382236836 | MMP12 | c.835C>T (p.Pro279Ser)
| |
11 | g.102867346G>C | CA382236837 | MMP12 | c.835C>G (p.Pro279Ala)
| |
11 | g.102867346G>T | CA382236838 | MMP12 | c.835C>A (p.Pro279Thr)
| |
11 | g.102867347T>A | CA382236839 | MMP12 | c.834A>T (p.Glu278Asp)
| |
11 | g.102867347T>C | CA476586504 | MMP12 | c.834A>G (p.Glu278=)
| |
11 | g.102867347T>G | CA382236840 | MMP12 | c.834A>C (p.Glu278Asp)
| |
11 | g.102867348T>A | CA382236842 | MMP12 | c.833A>T (p.Glu278Val)
| |
11 | g.102867348T>C | CA6251456 | MMP12 | c.833A>G (p.Glu278Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.102867348T>G | CA382236841 | MMP12 | c.833A>C (p.Glu278Ala)
| |
11 | g.102867348T= | CA1996274320 | MMP12 | c.833A= (p.Glu278=)
| |
11 | g.102867349C>A | CA382236843 | MMP12 | c.832G>T (p.Glu278Ter)
| |
11 | g.102867349C>G | CA382236845 | MMP12 | c.832G>C (p.Glu278Gln)
| gnomAD v4 |
11 | g.102867349C>T | CA382236844 | MMP12 | c.832G>A (p.Glu278Lys)
| gnomAD v4 |
11 | g.102867350T>A | CA476586519 | MMP12 | c.831A>T (p.Ser277=)
| |
11 | g.102867350T>C | CA476586521 | MMP12 | c.831A>G (p.Ser277=)
| |
11 | g.102867350T>G | CA476586522 | MMP12 | c.831A>C (p.Ser277=)
| gnomAD v4 |
11 | g.102867351G>A | CA382236846 | MMP12 | c.830C>T (p.Ser277Leu)
| gnomAD v4 |
11 | g.102867351G>C | CA382236847 | MMP12 | c.830C>G (p.Ser277Ter)
| |
11 | g.102867351G>T | CA382236848 | MMP12 | c.830C>A (p.Ser277Ter)
| |
11 | g.102867352A>C | CA382236849 | MMP12 | c.829T>G (p.Ser277Ala)
| |
11 | g.102867352A>G | CA382236850 | MMP12 | c.829T>C (p.Ser277Pro)
| |
11 | g.102867352A>T | CA382236851 | MMP12 | c.829T>A (p.Ser277Thr)
| |
11 | g.102867353A>C | CA382236852 | MMP12 | c.828T>G (p.Asn276Lys)
| |
11 | g.102867353A>G | CA476586535 | MMP12 | c.828T>C (p.Asn276=)
| |
11 | g.102867353A>T | CA382236853 | MMP12 | c.828T>A (p.Asn276Lys)
| gnomAD v4 |
11 | g.102867354T>A | CA382236854 | MMP12 | c.827A>T (p.Asn276Ile)
| |
11 | g.102867354T>C | CA6251457 | MMP12 | c.827A>G (p.Asn276Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867354T>G | CA382236855 | MMP12 | c.827A>C (p.Asn276Thr)
| |
11 | g.102867354T= | CA1996274321 | MMP12 | c.827A= (p.Asn276=)
| |
11 | g.102867355T>A | CA382236856 | MMP12 | c.826A>T (p.Asn276Tyr)
| |
11 | g.102867355T>C | CA382236857 | MMP12 | c.826A>G (p.Asn276Asp)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.102867355T>G | CA227362697 | MMP12 | c.826A>C (p.Asn276His)
| dbSNP |
11 | g.102867355T= | CA1996274322 | MMP12 | c.826A= (p.Asn276=)
| |
11 | g.102867356G>A | CA476586544 | MMP12 | c.825C>T (p.Asp275=)
| |
11 | g.102867356G>C | CA382236858 | MMP12 | c.825C>G (p.Asp275Glu)
| |
11 | g.102867356G>T | CA382236859 | MMP12 | c.825C>A (p.Asp275Glu)
| |
11 | g.102867357T>A | CA382236860 | MMP12 | c.824A>T (p.Asp275Val)
| |
11 | g.102867357T>C | CA382236861 | MMP12 | c.824A>G (p.Asp275Gly)
| |
11 | g.102867357T>G | CA382236862 | MMP12 | c.824A>C (p.Asp275Ala)
| dbSNP |
11 | g.102867358C>A | CA382236863 | MMP12 | c.823G>T (p.Asp275Tyr)
| gnomAD v4 |
11 | g.102867358C= | CA1996274323 | MMP12 | c.823G= (p.Asp275=)
| |
11 | g.102867358C>G | CA382236864 | MMP12 | c.823G>C (p.Asp275His)
| |
11 | g.102867358C>T | CA6251458 | MMP12 | c.823G>A (p.Asp275Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.102867359A>C | CA476586558 | MMP12 | c.822T>G (p.Pro274=)
| |
11 | g.102867359A>G | CA476586560 | MMP12 | c.822T>C (p.Pro274=)
| gnomAD v4 |
11 | g.102867359A>T | CA476586563 | MMP12 | c.822T>A (p.Pro274=)
| |
11 | g.102867359_102867360delinsAG | CA1996274324 | MMP12 | c.821_822delinsCT (p.Pro274=)
| |
11 | g.102867360G>A | CA382236865 | MMP12 | c.821C>T (p.Pro274Leu)
| |
11 | g.102867360G>C | CA382236866 | MMP12 | c.821C>G (p.Pro274Arg)
| |
11 | g.102867360G>T | CA382236867 | MMP12 | c.821C>A (p.Pro274His)
| |
11 | g.102867361del | CA670882826 | MMP12 | c.821del (p.Pro274LeufsTer13)
| dbSNP gnomAD v4 |