21 | g.45984237_45984251dup | CA1022876258 | COL6A1 | c.228-32_228-18dup (n.228-32_228-18dup)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984241_45984251dup | CA2654956276 | COL6A1 | c.228-28_228-18dup (n.228-28_228-18dup)
| gnomAD v4 |
21 | g.45984241_45984251del | CA10069496 | COL6A1 | c.228-28_228-18del (n.228-28_228-18del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984246C>A | CA2654956301 | COL6A1 | c.228-23C>A (n.228-23C>A)
| gnomAD v4 |
21 | g.45984246C>T | CA2654956302 | COL6A1 | c.228-23C>T (n.228-23C>T)
| gnomAD v4 |
21 | g.45984248dup | CA638497634 | COL6A1 | c.228-21dup (n.228-21dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984247C>A | CA2654956304 | COL6A1 | c.228-22C>A (n.228-22C>A)
| gnomAD v4 |
21 | g.45984247C>T | CA2654956303 | COL6A1 | c.228-22C>T (n.228-22C>T)
| gnomAD v4 |
21 | g.45984248C>A | CA638497635 | COL6A1 | c.228-21C>A (n.228-21C>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984248C= | CA2392429990 | COL6A1 | c.228-21C= (n.228-21C=)
| |
21 | g.45984248C>T | CA10069503 | COL6A1 | c.228-21C>T (n.228-21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984249G>A | CA638497636 | COL6A1 | c.228-20G>A (n.228-20G>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984249G= | CA2392429991 | COL6A1 | c.228-20G= (n.228-20G=)
| |
21 | g.45984249G>T | CA1022876276 | COL6A1 | c.228-20G>T (n.228-20G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984251C>A | CA638497637 | COL6A1 | c.228-18C>A (n.228-18C>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984251C= | CA2392429992 | COL6A1 | c.228-18C= (n.228-18C=)
| |
21 | g.45984251C>G | CA2818097880 | COL6A1 | c.228-18C>G (n.228-18C>G)
| |
21 | g.45984251C>T | CA10069504 | COL6A1 | c.228-18C>T (n.228-18C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984252G>A | CA10069505 | COL6A1 | c.228-17G>A (n.228-17G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984252G>C | CA638497638 | COL6A1 | c.228-17G>C (n.228-17G>C)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984252G= | CA2392429993 | COL6A1 | c.228-17G= (n.228-17G=)
| |
21 | g.45984253T>C | CA2737645228 | COL6A1 | c.228-16T>C (n.228-16T>C)
| dbSNP |
21 | g.45984254G>A | CA2737645397 | COL6A1 | c.228-15G>A (n.228-15G>A)
| dbSNP |
21 | g.45984254G>T | CA2654956306 | COL6A1 | c.228-15G>T (n.228-15G>T)
| gnomAD v4 |
21 | g.45984255C>A | CA2654956307 | COL6A1 | c.228-14C>A (n.228-14C>A)
| gnomAD v4 |
21 | g.45984255C>T | CA2654956308 | COL6A1 | c.228-14C>T (n.228-14C>T)
| gnomAD v4 |
21 | g.45984256C= | CA2392429994 | COL6A1 | c.228-13C= (n.228-13C=)
| |
21 | g.45984256C>T | CA10069506 | COL6A1 | c.228-13C>T (n.228-13C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984257T>C | CA2654956310 | COL6A1 | c.228-12T>C (n.228-12T>C)
| gnomAD v4 |
21 | g.45984258G>A | CA638497639 | COL6A1 | c.228-11G>A (n.228-11G>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984258G= | CA2392429995 | COL6A1 | c.228-11G= (n.228-11G=)
| |
21 | g.45984259T>G | CA2654956311 | COL6A1 | c.228-10T>G (n.228-10T>G)
| gnomAD v4 |
21 | g.45984261C>A | CA2654956312 | COL6A1 | c.228-8C>A (n.228-8C>A)
| gnomAD v4 |
21 | g.45984261C= | CA2392429996 | COL6A1 | c.228-8C= (n.228-8C=)
| |
21 | g.45984261C>T | CA2392429997 | COL6A1 | c.228-8C>T (n.228-8C>T)
| dbSNP gnomAD v4 |
21 | g.45984262del | CA2577628303 | COL6A1 | c.228-7del (n.228-7del)
| |
21 | g.45984262C= | CA2392429998 | COL6A1 | c.228-7C= (n.228-7C=)
| |
21 | g.45984262C>T | CA1139666927 | COL6A1 | c.228-7C>T (n.228-7C>T)
| ClinVar dbSNP |
21 | g.45984264G>A | CA1022876281 | COL6A1 | c.228-5G>A (n.228-5G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984264G= | CA2392429999 | COL6A1 | c.228-5G= (n.228-5G=)
| |
21 | g.45984264G>T | CA2654956313 | COL6A1 | c.228-5G>T (n.228-5G>T)
| dbSNP gnomAD v4 |
21 | g.45984265G>A | CA2654956314 | COL6A1 | c.228-4G>A (n.228-4G>A)
| gnomAD v4 |
21 | g.45984266C>A | CA2654956315 | COL6A1 | c.228-3C>A (n.228-3C>A)
| gnomAD v4 |
21 | g.45984266C>T | CA2654956316 | COL6A1 | c.228-3C>T (n.228-3C>T)
| gnomAD v4 |
21 | g.45984267A>C | CA410515646 | COL6A1 | c.228-2A>C (n.228-2A>C)
| |
21 | g.45984267A>G | CA410515648 | COL6A1 | c.228-2A>G (n.228-2A>G)
| |
21 | g.45984267A>T | CA410515649 | COL6A1 | c.228-2A>T (n.228-2A>T)
| |
21 | g.45984268G>A | CA410515654 | COL6A1 | c.228-1G>A (n.228-1G>A)
| gnomAD v4 |
21 | g.45984268G>C | CA410515657 | COL6A1 | c.228-1G>C (n.228-1G>C)
| |
21 | g.45984268G>T | CA410515651 | COL6A1 | c.228-1G>T (n.228-1G>T)
| |
21 | g.45984269G>A | CA513169015 | COL6A1 | c.228G>A (p.Arg76=)
| |
21 | g.45984269G>C | CA410515659 | COL6A1 | c.228G>C (p.Arg76Ser)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984269G= | CA2392430000 | COL6A1 | c.228G= (p.Arg76=)
| |
21 | g.45984269G>T | CA410515661 | COL6A1 | c.228G>T (p.Arg76Ser)
| gnomAD v4 |
21 | g.45984270T>A | CA410515664 | COL6A1 | c.229T>A (p.Tyr77Asn)
| gnomAD v4 |
21 | g.45984270T>C | CA410515666 | COL6A1 | c.229T>C (p.Tyr77His)
| |
21 | g.45984270T>G | CA410515669 | COL6A1 | c.229T>G (p.Tyr77Asp)
| dbSNP |
21 | g.45984270T= | CA2392430001 | COL6A1 | c.229T= (p.Tyr77=)
| |
21 | g.45984271A= | CA2392430002 | COL6A1 | c.230A= (p.Tyr77=)
| |
21 | g.45984271A>C | CA410515671 | COL6A1 | c.230A>C (p.Tyr77Ser)
| gnomAD v4 |
21 | g.45984271A>G | CA410515673 | COL6A1 | c.230A>G (p.Tyr77Cys)
| dbSNP |
21 | g.45984271A>T | CA410515675 | COL6A1 | c.230A>T (p.Tyr77Phe)
| |
21 | g.45984272C>A | CA410515677 | COL6A1 | c.231C>A (p.Tyr77Ter)
| |
21 | g.45984272C>G | CA410515678 | COL6A1 | c.231C>G (p.Tyr77Ter)
| |
21 | g.45984272C>T | CA513169016 | COL6A1 | c.231C>T (p.Tyr77=)
| |
21 | g.45984273T>A | CA410515681 | COL6A1 | c.232T>A (p.Tyr78Asn)
| |
21 | g.45984273T>C | CA410515691 | COL6A1 | c.232T>C (p.Tyr78His)
| |
21 | g.45984273T>G | CA410515695 | COL6A1 | c.232T>G (p.Tyr78Asp)
| |
21 | g.45984274A>C | CA410515701 | COL6A1 | c.233A>C (p.Tyr78Ser)
| |
21 | g.45984274A>G | CA410515699 | COL6A1 | c.233A>G (p.Tyr78Cys)
| |
21 | g.45984274A>T | CA410515698 | COL6A1 | c.233A>T (p.Tyr78Phe)
| |
21 | g.45984275C>A | CA410515704 | COL6A1 | c.234C>A (p.Tyr78Ter)
| ClinVar dbSNP |
21 | g.45984275C= | CA2392430003 | COL6A1 | c.234C= (p.Tyr78=)
| |
21 | g.45984275C>G | CA410515707 | COL6A1 | c.234C>G (p.Tyr78Ter)
| |
21 | g.45984275C>T | CA513169017 | COL6A1 | c.234C>T (p.Tyr78=)
| |
21 | g.45984276C>A | CA10069507 | COL6A1 | c.235C>A (p.Arg79Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984276C= | CA2392430004 | COL6A1 | c.235C= (p.Arg79=)
| |
21 | g.45984276C>G | CA410515709 | COL6A1 | c.235C>G (p.Arg79Gly)
| dbSNP |
21 | g.45984276C>T | CA410515712 | COL6A1 | c.235C>T (p.Arg79Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984277G>A | CA10069508 | COL6A1 | c.236G>A (p.Arg79His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984277G>C | CA410515716 | COL6A1 | c.236G>C (p.Arg79Pro)
| |
21 | g.45984277G= | CA2392430005 | COL6A1 | c.236G= (p.Arg79=)
| |
21 | g.45984277G>T | CA410515719 | COL6A1 | c.236G>T (p.Arg79Leu)
| dbSNP gnomAD v4 |
21 | g.45984278C>A | CA513169018 | COL6A1 | c.237C>A (p.Arg79=)
| |
21 | g.45984278C>G | CA513169019 | COL6A1 | c.237C>G (p.Arg79=)
| |
21 | g.45984278C>T | CA513169020 | COL6A1 | c.237C>T (p.Arg79=)
| gnomAD v4 |
21 | g.45984279T>A | CA410515721 | COL6A1 | c.238T>A (p.Cys80Ser)
| |
21 | g.45984279T>C | CA410515723 | COL6A1 | c.238T>C (p.Cys80Arg)
| |
21 | g.45984279T>G | CA410515725 | COL6A1 | c.238T>G (p.Cys80Gly)
| |
21 | g.45984280G>A | CA410515727 | COL6A1 | c.239G>A (p.Cys80Tyr)
| |
21 | g.45984280G>C | CA410515729 | COL6A1 | c.239G>C (p.Cys80Ser)
| COSMIC |
21 | g.45984280G>T | CA410515733 | COL6A1 | c.239G>T (p.Cys80Phe)
| |
21 | g.45984281T>A | CA410515738 | COL6A1 | c.240T>A (p.Cys80Ter)
| |
21 | g.45984281T>C | CA513169021 | COL6A1 | c.240T>C (p.Cys80=)
| gnomAD v4 |
21 | g.45984281T>G | CA410515736 | COL6A1 | c.240T>G (p.Cys80Trp)
| |
21 | g.45984282G>A | CA410515739 | COL6A1 | c.241G>A (p.Asp81Asn)
| |
21 | g.45984282G>C | CA410515741 | COL6A1 | c.241G>C (p.Asp81His)
| gnomAD v4 |
21 | g.45984282G>T | CA410515742 | COL6A1 | c.241G>T (p.Asp81Tyr)
| gnomAD v4 |
21 | g.45984283A>C | CA410515743 | COL6A1 | c.242A>C (p.Asp81Ala)
| |
21 | g.45984283A>G | CA410515744 | COL6A1 | c.242A>G (p.Asp81Gly)
| |
21 | g.45984283A>T | CA410515746 | COL6A1 | c.242A>T (p.Asp81Val)
| |
21 | g.45984284C>A | CA410515748 | COL6A1 | c.243C>A (p.Asp81Glu)
| COSMIC |
21 | g.45984284C>G | CA410515751 | COL6A1 | c.243C>G (p.Asp81Glu)
| |
21 | g.45984284C>T | CA513169022 | COL6A1 | c.243C>T (p.Asp81=)
| |
21 | g.45984285C>A | CA513169023 | COL6A1 | c.244C>A (p.Arg82=)
| gnomAD v4 |
21 | g.45984285C= | CA2392430006 | COL6A1 | c.244C= (p.Arg82=)
| |
21 | g.45984285C>G | CA410515753 | COL6A1 | c.244C>G (p.Arg82Gly)
| gnomAD v4 |
21 | g.45984285C>T | CA410515755 | COL6A1 | c.244C>T (p.Arg82Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984286G>A | CA10069509 | COL6A1 | c.245G>A (p.Arg82Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984286G>C | CA410515760 | COL6A1 | c.245G>C (p.Arg82Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984286G= | CA2392430007 | COL6A1 | c.245G= (p.Arg82=)
| |
21 | g.45984286G>T | CA410515765 | COL6A1 | c.245G>T (p.Arg82Leu)
| |
21 | g.45984287A>C | CA513169024 | COL6A1 | c.246A>C (p.Arg82=)
| |
21 | g.45984287A>G | CA513169025 | COL6A1 | c.246A>G (p.Arg82=)
| |
21 | g.45984287A>T | CA513169026 | COL6A1 | c.246A>T (p.Arg82=)
| |
21 | g.45984288A= | CA2392430008 | COL6A1 | c.247A= (p.Asn83=)
| |
21 | g.45984288A>C | CA410515767 | COL6A1 | c.247A>C (p.Asn83His)
| |
21 | g.45984288A>G | CA410515769 | COL6A1 | c.247A>G (p.Asn83Asp)
| ClinVar dbSNP |
21 | g.45984288A>T | CA410515771 | COL6A1 | c.247A>T (p.Asn83Tyr)
| |
21 | g.45984289A>C | CA410515772 | COL6A1 | c.248A>C (p.Asn83Thr)
| |
21 | g.45984289A>G | CA410515774 | COL6A1 | c.248A>G (p.Asn83Ser)
| |
21 | g.45984289A>T | CA410515773 | COL6A1 | c.248A>T (p.Asn83Ile)
| |
21 | g.45984290C>A | CA410515775 | COL6A1 | c.249C>A (p.Asn83Lys)
| |
21 | g.45984290C>G | CA410515776 | COL6A1 | c.249C>G (p.Asn83Lys)
| |
21 | g.45984290C>T | CA513169027 | COL6A1 | c.249C>T (p.Asn83=)
| |
21 | g.45984291C>A | CA410515777 | COL6A1 | c.250C>A (p.Leu84Met)
| |
21 | g.45984291C>G | CA410515778 | COL6A1 | c.250C>G (p.Leu84Val)
| |
21 | g.45984291C>T | CA513169028 | COL6A1 | c.250C>T (p.Leu84=)
| gnomAD v4 |
21 | g.45984292T>A | CA410515779 | COL6A1 | c.251T>A (p.Leu84Gln)
| |
21 | g.45984292T>C | CA410515780 | COL6A1 | c.251T>C (p.Leu84Pro)
| |
21 | g.45984292T>G | CA410515781 | COL6A1 | c.251T>G (p.Leu84Arg)
| |
21 | g.45984293G>A | CA513169029 | COL6A1 | c.252G>A (p.Leu84=)
| |
21 | g.45984293G>C | CA513169030 | COL6A1 | c.252G>C (p.Leu84=)
| |
21 | g.45984293G>T | CA513169031 | COL6A1 | c.252G>T (p.Leu84=)
| |
21 | g.45984294G>A | CA410515782 | COL6A1 | c.253G>A (p.Val85Met)
| |
21 | g.45984294G>C | CA410515783 | COL6A1 | c.253G>C (p.Val85Leu)
| gnomAD v4 |
21 | g.45984294G>T | CA410515784 | COL6A1 | c.253G>T (p.Val85Leu)
| |
21 | g.45984295T>A | CA410515785 | COL6A1 | c.254T>A (p.Val85Glu)
| |
21 | g.45984295T>C | CA410515786 | COL6A1 | c.254T>C (p.Val85Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984295T>G | CA410515787 | COL6A1 | c.254T>G (p.Val85Gly)
| |
21 | g.45984295T= | CA2392430009 | COL6A1 | c.254T= (p.Val85=)
| |
21 | g.45984296G>A | CA513169032 | COL6A1 | c.255G>A (p.Val85=)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984296G>C | CA513169033 | COL6A1 | c.255G>C (p.Val85=)
| |
21 | g.45984296G= | CA2392430010 | COL6A1 | c.255G= (p.Val85=)
| |
21 | g.45984296G>T | CA513169034 | COL6A1 | c.255G>T (p.Val85=)
| |
21 | g.45984297T>A | CA410515788 | COL6A1 | c.256T>A (p.Trp86Arg)
| |
21 | g.45984297T>C | CA410515790 | COL6A1 | c.256T>C (p.Trp86Arg)
| |
21 | g.45984297T>G | CA410515789 | COL6A1 | c.256T>G (p.Trp86Gly)
| |
21 | g.45984298G>A | CA410515791 | COL6A1 | c.257G>A (p.Trp86Ter)
| gnomAD v4 |
21 | g.45984298G>C | CA410515792 | COL6A1 | c.257G>C (p.Trp86Ser)
| |
21 | g.45984298G>T | CA410515793 | COL6A1 | c.257G>T (p.Trp86Leu)
| |
21 | g.45984299G>A | CA410515794 | COL6A1 | c.258G>A (p.Trp86Ter)
| |
21 | g.45984299G>C | CA410515795 | COL6A1 | c.258G>C (p.Trp86Cys)
| gnomAD v4 |
21 | g.45984299G>T | CA410515796 | COL6A1 | c.258G>T (p.Trp86Cys)
| gnomAD v4 |
21 | g.45984300A>C | CA410515797 | COL6A1 | c.259A>C (p.Asn87His)
| |
21 | g.45984300A>G | CA410515798 | COL6A1 | c.259A>G (p.Asn87Asp)
| |
21 | g.45984300A>T | CA410515799 | COL6A1 | c.259A>T (p.Asn87Tyr)
| |
21 | g.45984301A>C | CA410515800 | COL6A1 | c.260A>C (p.Asn87Thr)
| |
21 | g.45984301A>G | CA410515801 | COL6A1 | c.260A>G (p.Asn87Ser)
| |
21 | g.45984301A>T | CA410515802 | COL6A1 | c.260A>T (p.Asn87Ile)
| |
21 | g.45984302C>A | CA410515803 | COL6A1 | c.261C>A (p.Asn87Lys)
| |
21 | g.45984302C= | CA2392430011 | COL6A1 | c.261C= (p.Asn87=)
| |
21 | g.45984302C>G | CA410515804 | COL6A1 | c.261C>G (p.Asn87Lys)
| |
21 | g.45984302C>T | CA10069510 | COL6A1 | c.261C>T (p.Asn87=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984303G>A | CA501145 | COL6A1 | c.262G>A (p.Ala88Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984303G>C | CA410515805 | COL6A1 | c.262G>C (p.Ala88Pro)
| |
21 | g.45984303G= | CA2392430012 | COL6A1 | c.262G= (p.Ala88=)
| |
21 | g.45984303G>T | CA410515806 | COL6A1 | c.262G>T (p.Ala88Ser)
| ClinVar |
21 | g.45984304C>A | CA410515807 | COL6A1 | c.263C>A (p.Ala88Glu)
| |
21 | g.45984304C= | CA2392430013 | COL6A1 | c.263C= (p.Ala88=)
| |
21 | g.45984304C>G | CA410515808 | COL6A1 | c.263C>G (p.Ala88Gly)
| |
21 | g.45984304C>T | CA410515809 | COL6A1 | c.263C>T (p.Ala88Val)
| dbSNP gnomAD v4 |
21 | g.45984305A>C | CA513169035 | COL6A1 | c.264A>C (p.Ala88=)
| |
21 | g.45984305A>G | CA513169036 | COL6A1 | c.264A>G (p.Ala88=)
| |
21 | g.45984305A>T | CA513169037 | COL6A1 | c.264A>T (p.Ala88=)
| |
21 | g.45984306G>A | CA410515810 | COL6A1 | c.265G>A (p.Gly89Ser)
| |
21 | g.45984306G>C | CA410515813 | COL6A1 | c.265G>C (p.Gly89Arg)
| |
21 | g.45984306G>T | CA410515811 | COL6A1 | c.265G>T (p.Gly89Cys)
| |
21 | g.45984307G>A | CA410515816 | COL6A1 | c.266G>A (p.Gly89Asp)
| |
21 | g.45984307G>C | CA410515818 | COL6A1 | c.266G>C (p.Gly89Ala)
| |
21 | g.45984307G>T | CA410515821 | COL6A1 | c.266G>T (p.Gly89Val)
| gnomAD v4 COSMIC |
21 | g.45984308C>A | CA513169038 | COL6A1 | c.267C>A (p.Gly89=)
| |
21 | g.45984308C= | CA2392430014 | COL6A1 | c.267C= (p.Gly89=)
| |
21 | g.45984308C>G | CA513169039 | COL6A1 | c.267C>G (p.Gly89=)
| |
21 | g.45984308C>T | CA10069511 | COL6A1 | c.267C>T (p.Gly89=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984309G>A | CA10069512 | COL6A1 | c.268G>A (p.Ala90Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984309G>C | CA410515830 | COL6A1 | c.268G>C (p.Ala90Pro)
| |
21 | g.45984309G= | CA2392430015 | COL6A1 | c.268G= (p.Ala90=)
| |
21 | g.45984309G>T | CA410515828 | COL6A1 | c.268G>T (p.Ala90Ser)
| |
21 | g.45984310C>A | CA410515832 | COL6A1 | c.269C>A (p.Ala90Glu)
| gnomAD v4 |
21 | g.45984310C= | CA2392430016 | COL6A1 | c.269C= (p.Ala90=)
| |
21 | g.45984310C>G | CA410515836 | COL6A1 | c.269C>G (p.Ala90Gly)
| ClinVar dbSNP |
21 | g.45984310C>T | CA10069513 | COL6A1 | c.269C>T (p.Ala90Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984311G>A | CA10069514 | COL6A1 | c.270G>A (p.Ala90=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984311G>C | CA513169040 | COL6A1 | c.270G>C (p.Ala90=)
| |
21 | g.45984311G= | CA2392430017 | COL6A1 | c.270G= (p.Ala90=)
| |
21 | g.45984311G>T | CA513169041 | COL6A1 | c.270G>T (p.Ala90=)
| |
21 | g.45984312C>A | CA410515839 | COL6A1 | c.271C>A (p.Leu91Met)
| |
21 | g.45984312C>G | CA410515842 | COL6A1 | c.271C>G (p.Leu91Val)
| |
21 | g.45984312C>T | CA513169042 | COL6A1 | c.271C>T (p.Leu91=)
| |
21 | g.45984313T>A | CA410515845 | COL6A1 | c.272T>A (p.Leu91Gln)
| |
21 | g.45984313T>C | CA410515847 | COL6A1 | c.272T>C (p.Leu91Pro)
| |
21 | g.45984313T>G | CA410515849 | COL6A1 | c.272T>G (p.Leu91Arg)
| |
21 | g.45984314G>A | CA10069515 | COL6A1 | c.273G>A (p.Leu91=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984314G>C | CA513169043 | COL6A1 | c.273G>C (p.Leu91=)
| |
21 | g.45984314G= | CA2392430018 | COL6A1 | c.273G= (p.Leu91=)
| |
21 | g.45984314G>T | CA513169044 | COL6A1 | c.273G>T (p.Leu91=)
| |
21 | g.45984315C>A | CA410515854 | COL6A1 | c.274C>A (p.His92Asn)
| |
21 | g.45984315C>G | CA410515856 | COL6A1 | c.274C>G (p.His92Asp)
| |
21 | g.45984315C>T | CA410515858 | COL6A1 | c.274C>T (p.His92Tyr)
| gnomAD v4 |
21 | g.45984316A= | CA2392430019 | COL6A1 | c.275A= (p.His92=)
| |
21 | g.45984316A>C | CA410515862 | COL6A1 | c.275A>C (p.His92Pro)
| |
21 | g.45984316A>G | CA410515864 | COL6A1 | c.275A>G (p.His92Arg)
| dbSNP gnomAD v4 |
21 | g.45984316A>T | CA410515866 | COL6A1 | c.275A>T (p.His92Leu)
| dbSNP gnomAD v2 |
21 | g.45984317C>A | CA410515869 | COL6A1 | c.276C>A (p.His92Gln)
| |
21 | g.45984317C>G | CA410515872 | COL6A1 | c.276C>G (p.His92Gln)
| gnomAD v4 |
21 | g.45984317C>T | CA513169045 | COL6A1 | c.276C>T (p.His92=)
| |
21 | g.45984318T>A | CA410515875 | COL6A1 | c.277T>A (p.Tyr93Asn)
| |
21 | g.45984318T>C | CA410515878 | COL6A1 | c.277T>C (p.Tyr93His)
| |
21 | g.45984318T>G | CA410515879 | COL6A1 | c.277T>G (p.Tyr93Asp)
| |
21 | g.45984319A= | CA2392430020 | COL6A1 | c.278A= (p.Tyr93=)
| |
21 | g.45984319A>C | CA410515882 | COL6A1 | c.278A>C (p.Tyr93Ser)
| |
21 | g.45984319A>G | CA410515884 | COL6A1 | c.278A>G (p.Tyr93Cys)
| ClinVar |
21 | g.45984319A>T | CA410515887 | COL6A1 | c.278A>T (p.Tyr93Phe)
| ClinVar dbSNP |
21 | g.45984320C>A | CA410515889 | COL6A1 | c.279C>A (p.Tyr93Ter)
| |
21 | g.45984320C>G | CA410515891 | COL6A1 | c.279C>G (p.Tyr93Ter)
| |
21 | g.45984320C>T | CA513169046 | COL6A1 | c.279C>T (p.Tyr93=)
| gnomAD v4 |
21 | g.45984321A>C | CA410515895 | COL6A1 | c.280A>C (p.Ser94Arg)
| |
21 | g.45984321A>G | CA410515897 | COL6A1 | c.280A>G (p.Ser94Gly)
| |
21 | g.45984321A>T | CA410515899 | COL6A1 | c.280A>T (p.Ser94Cys)
| |
21 | g.45984322G>A | CA410515906 | COL6A1 | c.281G>A (p.Ser94Asn)
| |
21 | g.45984322G>C | CA410515904 | COL6A1 | c.281G>C (p.Ser94Thr)
| |
21 | g.45984322G>T | CA410515902 | COL6A1 | c.281G>T (p.Ser94Ile)
| |
21 | g.45984323T>A | CA410515907 | COL6A1 | c.282T>A (p.Ser94Arg)
| |
21 | g.45984323T>C | CA513169047 | COL6A1 | c.282T>C (p.Ser94=)
| |
21 | g.45984323T>G | CA410515909 | COL6A1 | c.282T>G (p.Ser94Arg)
| |
21 | g.45984324G>A | CA410515913 | COL6A1 | c.283G>A (p.Asp95Asn)
| gnomAD v4 |
21 | g.45984324G>C | CA410515916 | COL6A1 | c.283G>C (p.Asp95His)
| |
21 | g.45984324G>T | CA410515917 | COL6A1 | c.283G>T (p.Asp95Tyr)
| |
21 | g.45984325A>C | CA410515920 | COL6A1 | c.284A>C (p.Asp95Ala)
| |
21 | g.45984325A>G | CA410515919 | COL6A1 | c.284A>G (p.Asp95Gly)
| |
21 | g.45984325A>T | CA410515918 | COL6A1 | c.284A>T (p.Asp95Val)
| |
21 | g.45984326C>A | CA410515922 | COL6A1 | c.285C>A (p.Asp95Glu)
| |
21 | g.45984326C= | CA2392430021 | COL6A1 | c.285C= (p.Asp95=)
| |
21 | g.45984326C>G | CA10069517 | COL6A1 | c.285C>G (p.Asp95Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984326C>T | CA10069516 | COL6A1 | c.285C>T (p.Asp95=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984327G>A | CA10069518 | COL6A1 | c.286G>A (p.Glu96Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984327G>C | CA410515923 | COL6A1 | c.286G>C (p.Glu96Gln)
| |
21 | g.45984327G= | CA2392430022 | COL6A1 | c.286G= (p.Glu96=)
| |
21 | g.45984327G>T | CA410515924 | COL6A1 | c.286G>T (p.Glu96Ter)
| gnomAD v4 |
21 | g.45984328A>C | CA410515925 | COL6A1 | c.287A>C (p.Glu96Ala)
| |
21 | g.45984328A>G | CA410515927 | COL6A1 | c.287A>G (p.Glu96Gly)
| |
21 | g.45984328A>T | CA410515926 | COL6A1 | c.287A>T (p.Glu96Val)
| |
21 | g.45984328_45984329delinsAG | CA2392430023 | COL6A1 | c.287_288delinsAG (p.Glu96=)
| |
21 | g.45984329G>A | CA513169048 | COL6A1 | c.288G>A (p.Glu96=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984329G>C | CA410515928 | COL6A1 | c.288G>C (p.Glu96Asp)
| |
21 | g.45984329G= | CA2392430024 | COL6A1 | c.288G= (p.Glu96=)
| |
21 | g.45984329G>T | CA410515929 | COL6A1 | c.288G>T (p.Glu96Asp)
| |
21 | g.45984330del | CA10069519 | COL6A1 | c.289del (p.Val97TrpfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984330G>A | CA410515930 | COL6A1 | c.289G>A (p.Val97Met)
| dbSNP gnomAD v4 |
21 | g.45984330G>C | CA410515931 | COL6A1 | c.289G>C (p.Val97Leu)
| |
21 | g.45984330G= | CA2392430025 | COL6A1 | c.289G= (p.Val97=)
| |
21 | g.45984330G>T | CA410515932 | COL6A1 | c.289G>T (p.Val97Leu)
| gnomAD v4 |
21 | g.45984331T>A | CA410515933 | COL6A1 | c.290T>A (p.Val97Glu)
| |
21 | g.45984331T>C | CA410515934 | COL6A1 | c.290T>C (p.Val97Ala)
| COSMIC |
21 | g.45984331T>G | CA410515935 | COL6A1 | c.290T>G (p.Val97Gly)
| |
21 | g.45984332G>A | CA10069521 | COL6A1 | c.291G>A (p.Val97=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984332G>C | CA513169049 | COL6A1 | c.291G>C (p.Val97=)
| |
21 | g.45984332G= | CA2392430026 | COL6A1 | c.291G= (p.Val97=)
| |
21 | g.45984332G>T | CA10069520 | COL6A1 | c.291G>T (p.Val97=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984333G>A | CA410515936 | COL6A1 | c.292G>A (p.Glu98Lys)
| |
21 | g.45984333G>C | CA410515938 | COL6A1 | c.292G>C (p.Glu98Gln)
| |
21 | g.45984333G>T | CA410515937 | COL6A1 | c.292G>T (p.Glu98Ter)
| |
21 | g.45984334A>C | CA410515939 | COL6A1 | c.293A>C (p.Glu98Ala)
| |
21 | g.45984334A>G | CA410515941 | COL6A1 | c.293A>G (p.Glu98Gly)
| gnomAD v4 |
21 | g.45984334A>T | CA410515940 | COL6A1 | c.293A>T (p.Glu98Val)
| |
21 | g.45984335G>A | CA513169050 | COL6A1 | c.294G>A (p.Glu98=)
| |
21 | g.45984335G>C | CA410515942 | COL6A1 | c.294G>C (p.Glu98Asp)
| dbSNP gnomAD v4 |
21 | g.45984335G= | CA2392430027 | COL6A1 | c.294G= (p.Glu98=)
| |
21 | g.45984335G>T | CA410515943 | COL6A1 | c.294G>T (p.Glu98Asp)
| |
21 | g.45984336A>C | CA410515944 | COL6A1 | c.295A>C (p.Ile99Leu)
| gnomAD v4 |
21 | g.45984336A>G | CA410515945 | COL6A1 | c.295A>G (p.Ile99Val)
| |
21 | g.45984336A>T | CA410515946 | COL6A1 | c.295A>T (p.Ile99Phe)
| |
21 | g.45984337T>A | CA410515947 | COL6A1 | c.296T>A (p.Ile99Asn)
| |
21 | g.45984337T>C | CA410515948 | COL6A1 | c.296T>C (p.Ile99Thr)
| |
21 | g.45984337T>G | CA410515949 | COL6A1 | c.296T>G (p.Ile99Ser)
| |
21 | g.45984338del | CA501103 | COL6A1 | c.297del (p.Ile100SerfsTer?)
| |
21 | g.45984338C>A | CA513169051 | COL6A1 | c.297C>A (p.Ile99=)
| |
21 | g.45984338C= | CA2392430028 | COL6A1 | c.297C= (p.Ile99=)
| |
21 | g.45984338C>G | CA410515950 | COL6A1 | c.297C>G (p.Ile99Met)
| |
21 | g.45984338C>T | CA513169052 | COL6A1 | c.297C>T (p.Ile99=)
| dbSNP |
21 | g.45984339A>C | CA410515951 | COL6A1 | c.298A>C (p.Ile100Leu)
| |
21 | g.45984339A>G | CA410515952 | COL6A1 | c.298A>G (p.Ile100Val)
| gnomAD v4 |
21 | g.45984339A>T | CA410515953 | COL6A1 | c.298A>T (p.Ile100Phe)
| |
21 | g.45984340T>A | CA410515956 | COL6A1 | c.299T>A (p.Ile100Asn)
| |
21 | g.45984340T>C | CA410515955 | COL6A1 | c.299T>C (p.Ile100Thr)
| gnomAD v4 |
21 | g.45984340T>G | CA410515954 | COL6A1 | c.299T>G (p.Ile100Ser)
| |
21 | g.45984341C>A | CA513169053 | COL6A1 | c.300C>A (p.Ile100=)
| gnomAD v4 |
21 | g.45984341C>G | CA410515957 | COL6A1 | c.300C>G (p.Ile100Met)
| |
21 | g.45984341C>T | CA513169054 | COL6A1 | c.300C>T (p.Ile100=)
| |
21 | g.45984342C>A | CA410515958 | COL6A1 | c.301C>A (p.Gln101Lys)
| |
21 | g.45984342C= | CA2392430029 | COL6A1 | c.301C= (p.Gln101=)
| |
21 | g.45984342C>G | CA10069522 | COL6A1 | c.301C>G (p.Gln101Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984342C>T | CA410515959 | COL6A1 | c.301C>T (p.Gln101Ter)
| gnomAD v4 |
21 | g.45984343A= | CA2392430030 | COL6A1 | c.302A= (p.Gln101=)
| |
21 | g.45984343A>C | CA410515960 | COL6A1 | c.302A>C (p.Gln101Pro)
| |
21 | g.45984343A>G | CA321954877 | COL6A1 | c.302A>G (p.Gln101Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984343A>T | CA410515961 | COL6A1 | c.302A>T (p.Gln101Leu)
| |
21 | g.45984344A>C | CA410515962 | COL6A1 | c.303A>C (p.Gln101His)
| |
21 | g.45984344A>G | CA513169055 | COL6A1 | c.303A>G (p.Gln101=)
| |
21 | g.45984344A>T | CA410515963 | COL6A1 | c.303A>T (p.Gln101His)
| |
21 | g.45984345G>A | CA410515964 | COL6A1 | c.304G>A (p.Gly102Ser)
| |
21 | g.45984345G>C | CA410515965 | COL6A1 | c.304G>C (p.Gly102Arg)
| |
21 | g.45984345G>T | CA410515966 | COL6A1 | c.304G>T (p.Gly102Cys)
| |
21 | g.45984346G>A | CA410515967 | COL6A1 | c.305G>A (p.Gly102Asp)
| gnomAD v4 |
21 | g.45984346G>C | CA410515968 | COL6A1 | c.305G>C (p.Gly102Ala)
| dbSNP |
21 | g.45984346G= | CA2392430031 | COL6A1 | c.305G= (p.Gly102=)
| |
21 | g.45984346G>T | CA321954879 | COL6A1 | c.305G>T (p.Gly102Val)
| ClinVar dbSNP gnomAD v4 |