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 |
21 | g.45984347C>A | CA513169056 | COL6A1 | c.306C>A (p.Gly102=)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984347C= | CA2392430032 | COL6A1 | c.306C= (p.Gly102=)
| |
21 | g.45984347C>G | CA513169057 | COL6A1 | c.306C>G (p.Gly102=)
| |
21 | g.45984347C>T | CA513169058 | COL6A1 | c.306C>T (p.Gly102=)
| dbSNP |
21 | g.45984348C>A | CA410515969 | COL6A1 | c.307C>A (p.Leu103Ile)
| |
21 | g.45984348C= | CA2392430033 | COL6A1 | c.307C= (p.Leu103=)
| |
21 | g.45984348C>G | CA410515970 | COL6A1 | c.307C>G (p.Leu103Val)
| |
21 | g.45984348C>T | CA410515971 | COL6A1 | c.307C>T (p.Leu103Phe)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984349T>A | CA410515973 | COL6A1 | c.308T>A (p.Leu103His)
| |
21 | g.45984349T>C | CA410515975 | COL6A1 | c.308T>C (p.Leu103Pro)
| |
21 | g.45984349T>G | CA410515977 | COL6A1 | c.308T>G (p.Leu103Arg)
| |
21 | g.45984349_45984351delinsTCA | CA2392430034 | COL6A1 | c.308_310delinsTCA (p.Leu103=)
| |
21 | g.45984350C>A | CA513169059 | COL6A1 | c.309C>A (p.Leu103=)
| |
21 | g.45984350C>G | CA513169060 | COL6A1 | c.309C>G (p.Leu103=)
| dbSNP |
21 | g.45984350C>T | CA513169061 | COL6A1 | c.309C>T (p.Leu103=)
| |
21 | g.45984351_45984352del | CA749824189 | COL6A1 | c.310_311del (p.Thr104AlafsTer?)
| ClinVar dbSNP |
21 | g.45984351A>C | CA410515979 | COL6A1 | c.310A>C (p.Thr104Pro)
| |
21 | g.45984351A>G | CA410515981 | COL6A1 | c.310A>G (p.Thr104Ala)
| |
21 | g.45984351A>T | CA410515983 | COL6A1 | c.310A>T (p.Thr104Ser)
| |
21 | g.45984351dup | CA2697547633 | COL6A1 | c.310dup (p.Thr104AsnfsTer?)
| ClinVar |
21 | g.45984351_45984352insT | CA2654956320 | COL6A1 | c.310_311insT (p.Thr104IlefsTer?)
| gnomAD v4 |
21 | g.45984352C>A | CA410515985 | COL6A1 | c.311C>A (p.Thr104Lys)
| gnomAD v4 |
21 | g.45984352C= | CA2392430035 | COL6A1 | c.311C= (p.Thr104=)
| |
21 | g.45984352C>G | CA410515987 | COL6A1 | c.311C>G (p.Thr104Arg)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984352C>T | CA10069523 | COL6A1 | c.311C>T (p.Thr104Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984352_45984387delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA | CA2392430036 | COL6A1 | c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA (p.Thr104=)
| |
21 | g.45984353G>A | CA513169062 | COL6A1 | c.312G>A (p.Thr104=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984353G>C | CA513169063 | COL6A1 | c.312G>C (p.Thr104=)
| |
21 | g.45984353G= | CA2392430037 | COL6A1 | c.312G= (p.Thr104=)
| |
21 | g.45984353G>T | CA513169064 | COL6A1 | c.312G>T (p.Thr104=)
| dbSNP gnomAD v4 |
21 | g.45984356_45984390del | CA10605169 | COL6A1 | c.315_349del (p.Met106GlyfsTer?)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984354C>A | CA410515993 | COL6A1 | c.313C>A (p.Arg105Ser)
| |
21 | g.45984354C= | CA2392430038 | COL6A1 | c.313C= (p.Arg105=)
| |
21 | g.45984354C>G | CA410515991 | COL6A1 | c.313C>G (p.Arg105Gly)
| |
21 | g.45984354C>T | CA10069524 | COL6A1 | c.313C>T (p.Arg105Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984355G>A | CA410515995 | COL6A1 | c.314G>A (p.Arg105His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984355G>C | CA410515997 | COL6A1 | c.314G>C (p.Arg105Pro)
| gnomAD v4 |
21 | g.45984355G= | CA2392430039 | COL6A1 | c.314G= (p.Arg105=)
| |
21 | g.45984355G>T | CA10069525 | COL6A1 | c.314G>T (p.Arg105Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984356C>A | CA513169065 | COL6A1 | c.315C>A (p.Arg105=)
| |
21 | g.45984356C>G | CA513169066 | COL6A1 | c.315C>G (p.Arg105=)
| |
21 | g.45984356C>T | CA513169067 | COL6A1 | c.315C>T (p.Arg105=)
| gnomAD v4 |
21 | g.45984357A= | CA2392430040 | COL6A1 | c.316A= (p.Met106=)
| |
21 | g.45984357A>C | CA410516000 | COL6A1 | c.316A>C (p.Met106Leu)
| |
21 | g.45984357A>G | CA410516001 | COL6A1 | c.316A>G (p.Met106Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984357A>T | CA410516003 | COL6A1 | c.316A>T (p.Met106Leu)
| |
21 | g.45984358T>A | CA410516005 | COL6A1 | c.317T>A (p.Met106Lys)
| |
21 | g.45984358T>C | CA410516007 | COL6A1 | c.317T>C (p.Met106Thr)
| |
21 | g.45984358T>G | CA410516008 | COL6A1 | c.317T>G (p.Met106Arg)
| |
21 | g.45984359G>A | CA410516011 | COL6A1 | c.318G>A (p.Met106Ile)
| |
21 | g.45984359G>C | CA410516012 | COL6A1 | c.318G>C (p.Met106Ile)
| |
21 | g.45984359G>T | CA410516014 | COL6A1 | c.318G>T (p.Met106Ile)
| |
21 | g.45984360C>A | CA410516019 | COL6A1 | c.319C>A (p.Pro107Thr)
| |
21 | g.45984360C= | CA2392430041 | COL6A1 | c.319C= (p.Pro107=)
| |
21 | g.45984360C>G | CA410516017 | COL6A1 | c.319C>G (p.Pro107Ala)
| |
21 | g.45984360C>T | CA10069526 | COL6A1 | c.319C>T (p.Pro107Ser)
| dbSNP ExAC gnomAD v2 |
21 | g.45984361C>A | CA410516022 | COL6A1 | c.320C>A (p.Pro107His)
| |
21 | g.45984361C= | CA2392430042 | COL6A1 | c.320C= (p.Pro107=)
| |
21 | g.45984361C>G | CA10069527 | COL6A1 | c.320C>G (p.Pro107Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984361C>T | CA410516021 | COL6A1 | c.320C>T (p.Pro107Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984362T>A | CA513169070 | COL6A1 | c.321T>A (p.Pro107=)
| |
21 | g.45984362T>C | CA513169069 | COL6A1 | c.321T>C (p.Pro107=)
| gnomAD v4 |
21 | g.45984362T>G | CA513169068 | COL6A1 | c.321T>G (p.Pro107=)
| |
21 | g.45984363G>A | CA410516024 | COL6A1 | c.322G>A (p.Gly108Ser)
| dbSNP |
21 | g.45984363G>C | CA410516025 | COL6A1 | c.322G>C (p.Gly108Arg)
| |
21 | g.45984363G= | CA2392430043 | COL6A1 | c.322G= (p.Gly108=)
| |
21 | g.45984363G>T | CA410516026 | COL6A1 | c.322G>T (p.Gly108Cys)
| |
21 | g.45984364G>A | CA410516028 | COL6A1 | c.323G>A (p.Gly108Asp)
| gnomAD v4 |
21 | g.45984364G>C | CA410516030 | COL6A1 | c.323G>C (p.Gly108Ala)
| |
21 | g.45984364G>T | CA410516032 | COL6A1 | c.323G>T (p.Gly108Val)
| |
21 | g.45984365C>A | CA513169071 | COL6A1 | c.324C>A (p.Gly108=)
| dbSNP |
21 | g.45984365C= | CA2392430044 | COL6A1 | c.324C= (p.Gly108=)
| |
21 | g.45984365C>G | CA513169072 | COL6A1 | c.324C>G (p.Gly108=)
| |
21 | g.45984365C>T | CA243240 | COL6A1 | c.324C>T (p.Gly108=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984366G>A | CA10604838 | COL6A1 | c.325G>A (p.Gly109Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984366G>C | CA410516036 | COL6A1 | c.325G>C (p.Gly109Arg)
| dbSNP |
21 | g.45984366G= | CA2392430045 | COL6A1 | c.325G= (p.Gly109=)
| |
21 | g.45984366G>T | CA410516037 | COL6A1 | c.325G>T (p.Gly109Cys)
| |
21 | g.45984367G>A | CA410516040 | COL6A1 | c.326G>A (p.Gly109Asp)
| |
21 | g.45984367G>C | CA410516042 | COL6A1 | c.326G>C (p.Gly109Ala)
| |
21 | g.45984367G>T | CA410516043 | COL6A1 | c.326G>T (p.Gly109Val)
| gnomAD v4 |
21 | g.45984367_45984368del | CA2499225993 | COL6A1 | c.326_327del (p.Gly109AlafsTer?)
| dbSNP |
21 | g.45984368C>A | CA513169073 | COL6A1 | c.327C>A (p.Gly109=)
| |
21 | g.45984368C= | CA2392430046 | COL6A1 | c.327C= (p.Gly109=)
| |
21 | g.45984368C>G | CA513169074 | COL6A1 | c.327C>G (p.Gly109=)
| |
21 | g.45984368C>T | CA513169075 | COL6A1 | c.327C>T (p.Gly109=)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984369C>A | CA410516046 | COL6A1 | c.328C>A (p.Arg110Ser)
| |
21 | g.45984369C= | CA2392430047 | COL6A1 | c.328C= (p.Arg110=)
| |
21 | g.45984369C>G | CA16609071 | COL6A1 | c.328C>G (p.Arg110Gly)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984369C>T | CA321954885 | COL6A1 | c.328C>T (p.Arg110Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984372_45984376del | CA2654956322 | COL6A1 | c.331_335del (p.Asp111ThrfsTer?)
| gnomAD v4 |
21 | g.45984370G>A | CA10069528 | COL6A1 | c.329G>A (p.Arg110His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984370G>C | CA410516050 | COL6A1 | c.329G>C (p.Arg110Pro)
| |
21 | g.45984370G= | CA2392430048 | COL6A1 | c.329G= (p.Arg110=)
| |
21 | g.45984370G>T | CA410516051 | COL6A1 | c.329G>T (p.Arg110Leu)
| |
21 | g.45984371C>A | CA513169077 | COL6A1 | c.330C>A (p.Arg110=)
| |
21 | g.45984371C= | CA2392430049 | COL6A1 | c.330C= (p.Arg110=)
| |
21 | g.45984371C>G | CA513169076 | COL6A1 | c.330C>G (p.Arg110=)
| |
21 | g.45984371C>T | CA10069529 | COL6A1 | c.330C>T (p.Arg110=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.45984371_45984377delinsCGACGCA | CA2392430050 | COL6A1 | c.330_336delinsCGACGCA (p.Arg110=)
| |
21 | g.45984371_45984380del | CA2577628304 | COL6A1 | c.330_339del (p.Asp111LysfsTer?)
| |
21 | g.45984372G>A | CA410516055 | COL6A1 | c.331G>A (p.Asp111Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984372G>C | CA410516056 | COL6A1 | c.331G>C (p.Asp111His)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984372G= | CA2392430052 | COL6A1 | c.331G= (p.Asp111=)
| |
21 | g.45984372G>T | CA410516058 | COL6A1 | c.331G>T (p.Asp111Tyr)
| |
21 | g.45984372_45984377del | CA2392430051 | COL6A1 | c.331_336del (p.Asp111_Ala112del)
| dbSNP |
21 | g.45984373A>C | CA410516060 | COL6A1 | c.332A>C (p.Asp111Ala)
| |
21 | g.45984373A>G | CA410516062 | COL6A1 | c.332A>G (p.Asp111Gly)
| |
21 | g.45984373A>T | CA410516064 | COL6A1 | c.332A>T (p.Asp111Val)
| |
21 | g.45984374C>A | CA410516066 | COL6A1 | c.333C>A (p.Asp111Glu)
| |
21 | g.45984374C= | CA2392430053 | COL6A1 | c.333C= (p.Asp111=)
| |
21 | g.45984374C>G | CA410516067 | COL6A1 | c.333C>G (p.Asp111Glu)
| |
21 | g.45984374C>T | CA513169078 | COL6A1 | c.333C>T (p.Asp111=)
| dbSNP gnomAD v4 |
21 | g.45984375G>A | CA10069531 | COL6A1 | c.334G>A (p.Ala112Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984375G>C | CA410516069 | COL6A1 | c.334G>C (p.Ala112Pro)
| dbSNP |
21 | g.45984375G= | CA2392430054 | COL6A1 | c.334G= (p.Ala112=)
| |
21 | g.45984375G>T | CA10069530 | COL6A1 | c.334G>T (p.Ala112Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984376C>A | CA410516072 | COL6A1 | c.335C>A (p.Ala112Glu)
| |
21 | g.45984376C= | CA2392430055 | COL6A1 | c.335C= (p.Ala112=)
| |
21 | g.45984376C>G | CA410516073 | COL6A1 | c.335C>G (p.Ala112Gly)
| |
21 | g.45984376C>T | CA10069532 | COL6A1 | c.335C>T (p.Ala112Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984377A= | CA2392430056 | COL6A1 | c.336A= (p.Ala112=)
| |
21 | g.45984377A>C | CA10069533 | COL6A1 | c.336A>C (p.Ala112=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984377A>G | CA513169080 | COL6A1 | c.336A>G (p.Ala112=)
| |
21 | g.45984377A>T | CA10069534 | COL6A1 | c.336A>T (p.Ala112=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984378C>A | CA410516082 | COL6A1 | c.337C>A (p.Leu113Ile)
| |
21 | g.45984378C>G | CA410516080 | COL6A1 | c.337C>G (p.Leu113Val)
| gnomAD v4 |
21 | g.45984378C>T | CA410516078 | COL6A1 | c.337C>T (p.Leu113Phe)
| |
21 | g.45984379T>A | CA410516084 | COL6A1 | c.338T>A (p.Leu113His)
| |
21 | g.45984379T>C | CA410516086 | COL6A1 | c.338T>C (p.Leu113Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984379T>G | CA410516088 | COL6A1 | c.338T>G (p.Leu113Arg)
| |
21 | g.45984379T= | CA2392430057 | COL6A1 | c.338T= (p.Leu113=)
| |
21 | g.45984380C>A | CA513169082 | COL6A1 | c.339C>A (p.Leu113=)
| gnomAD v4 |
21 | g.45984380C>G | CA513169084 | COL6A1 | c.339C>G (p.Leu113=)
| |
21 | g.45984380C>T | CA513169086 | COL6A1 | c.339C>T (p.Leu113=)
| |
21 | g.45984381A= | CA2392430058 | COL6A1 | c.340A= (p.Lys114=)
| |
21 | g.45984381A>C | CA410516090 | COL6A1 | c.340A>C (p.Lys114Gln)
| ClinVar gnomAD v4 |
21 | g.45984381A>G | CA10069535 | COL6A1 | c.340A>G (p.Lys114Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984381A>T | CA410516093 | COL6A1 | c.340A>T (p.Lys114Ter)
| gnomAD v4 |
21 | g.45984383_45984384del | CA2557315542 | COL6A1 | c.342_343del (p.Ser115GlnfsTer?)
| |
21 | g.45984382A>C | CA410516095 | COL6A1 | c.341A>C (p.Lys114Thr)
| |
21 | g.45984382A>G | CA410516098 | COL6A1 | c.341A>G (p.Lys114Arg)
| |
21 | g.45984382A>T | CA410516096 | COL6A1 | c.341A>T (p.Lys114Ile)
| |
21 | g.45984383A>C | CA410516100 | COL6A1 | c.342A>C (p.Lys114Asn)
| |
21 | g.45984383A>G | CA513169089 | COL6A1 | c.342A>G (p.Lys114=)
| |
21 | g.45984383A>T | CA410516102 | COL6A1 | c.342A>T (p.Lys114Asn)
| |
21 | g.45984384A= | CA2392430060 | COL6A1 | c.343A= (p.Ser115=)
| |
21 | g.45984384A>C | CA410516104 | COL6A1 | c.343A>C (p.Ser115Arg)
| dbSNP gnomAD v4 |
21 | g.45984384A>G | CA410516106 | COL6A1 | c.343A>G (p.Ser115Gly)
| |
21 | g.45984384A>T | CA410516108 | COL6A1 | c.343A>T (p.Ser115Cys)
| |
21 | g.45984384_45984385delinsAG | CA2392430059 | COL6A1 | c.343_344delinsAG (p.Ser115=)
| |
21 | g.45984385del | CA10069536 | COL6A1 | c.344del (p.Ser115ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984385G>A | CA10069539 | COL6A1 | c.344G>A (p.Ser115Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984385G>C | CA10069538 | COL6A1 | c.344G>C (p.Ser115Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984385G= | CA2392430061 | COL6A1 | c.344G= (p.Ser115=)
| |
21 | g.45984385G>T | CA10069537 | COL6A1 | c.344G>T (p.Ser115Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984385_45984386insGC | CA2818096503 | COL6A1 | c.344_345insGC (p.Ser115ArgfsTer?)
| |
21 | g.45984386C>A | CA410516115 | COL6A1 | c.345C>A (p.Ser115Arg)
| gnomAD v4 |
21 | g.45984386C>G | CA410516116 | COL6A1 | c.345C>G (p.Ser115Arg)
| |
21 | g.45984386C>T | CA513169092 | COL6A1 | c.345C>T (p.Ser115=)
| gnomAD v4 |
21 | g.45984387A>C | CA410516119 | COL6A1 | c.346A>C (p.Ser116Arg)
| gnomAD v4 |
21 | g.45984387A>G | CA410516121 | COL6A1 | c.346A>G (p.Ser116Gly)
| |
21 | g.45984387A>T | CA410516118 | COL6A1 | c.346A>T (p.Ser116Cys)
| |
21 | g.45984388G>A | CA147404 | COL6A1 | c.347G>A (p.Ser116Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984388G>C | CA10069540 | COL6A1 | c.347G>C (p.Ser116Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984388G= | CA2392430062 | COL6A1 | c.347G= (p.Ser116=)
| |
21 | g.45984388G>T | CA410516124 | COL6A1 | c.347G>T (p.Ser116Ile)
| |
21 | g.45984389C>A | CA410516127 | COL6A1 | c.348C>A (p.Ser116Arg)
| gnomAD v4 |
21 | g.45984389C= | CA2392430063 | COL6A1 | c.348C= (p.Ser116=)
| |
21 | g.45984389C>G | CA410516129 | COL6A1 | c.348C>G (p.Ser116Arg)
| |
21 | g.45984389C>T | CA10069541 | COL6A1 | c.348C>T (p.Ser116=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984389_45984391delinsCGT | CA2392430064 | COL6A1 | c.348_350delinsCGT (p.Ser116=)
| |
21 | g.45984390G>A | CA231047 | COL6A1 | c.349G>A (p.Val117Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984390G>C | CA410516132 | COL6A1 | c.349G>C (p.Val117Leu)
| |
21 | g.45984390G= | CA2392430065 | COL6A1 | c.349G= (p.Val117=)
| |
21 | g.45984390G>T | CA410516134 | COL6A1 | c.349G>T (p.Val117Leu)
| |
21 | g.45984391_45984392del | CA10069542 | COL6A1 | c.350_351del (p.Val117GlyfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984391T>A | CA410516137 | COL6A1 | c.350T>A (p.Val117Glu)
| |
21 | g.45984391T>C | CA215981 | COL6A1 | c.350T>C (p.Val117Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984391T>G | CA410516140 | COL6A1 | c.350T>G (p.Val117Gly)
| |
21 | g.45984391T= | CA2392430066 | COL6A1 | c.350T= (p.Val117=)
| |
21 | g.45984392G>A | CA513169095 | COL6A1 | c.351G>A (p.Val117=)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984392G>C | CA513169096 | COL6A1 | c.351G>C (p.Val117=)
| |
21 | g.45984392G= | CA2392430067 | COL6A1 | c.351G= (p.Val117=)
| |
21 | g.45984392G>T | CA513169097 | COL6A1 | c.351G>T (p.Val117=)
| dbSNP gnomAD v2 gnomAD v4 |