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 |
21 | g.45984393G>A | CA10069543 | COL6A1 | c.352G>A (p.Asp118Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984393G>C | CA410516144 | COL6A1 | c.352G>C (p.Asp118His)
| |
21 | g.45984393G= | CA2392430068 | COL6A1 | c.352G= (p.Asp118=)
| |
21 | g.45984393G>T | CA410516145 | COL6A1 | c.352G>T (p.Asp118Tyr)
| |
21 | g.45984394A>C | CA410516151 | COL6A1 | c.353A>C (p.Asp118Ala)
| |
21 | g.45984394A>G | CA410516147 | COL6A1 | c.353A>G (p.Asp118Gly)
| |
21 | g.45984394A>T | CA410516149 | COL6A1 | c.353A>T (p.Asp118Val)
| |
21 | g.45984395C>A | CA410516153 | COL6A1 | c.354C>A (p.Asp118Glu)
| gnomAD v4 |
21 | g.45984395C= | CA2392430069 | COL6A1 | c.354C= (p.Asp118=)
| |
21 | g.45984395C>G | CA410516155 | COL6A1 | c.354C>G (p.Asp118Glu)
| |
21 | g.45984395C>T | CA513169101 | COL6A1 | c.354C>T (p.Asp118=)
| ClinVar dbSNP gnomAD v4 COSMIC |
21 | g.45984396G>A | CA10069544 | COL6A1 | c.355G>A (p.Ala119Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984396G>C | CA410516158 | COL6A1 | c.355G>C (p.Ala119Pro)
| |
21 | g.45984396G= | CA2392430070 | COL6A1 | c.355G= (p.Ala119=)
| |
21 | g.45984396G>T | CA410516160 | COL6A1 | c.355G>T (p.Ala119Ser)
| |
21 | g.45984397C>A | CA410516162 | COL6A1 | c.356C>A (p.Ala119Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984397C= | CA2392430071 | COL6A1 | c.356C= (p.Ala119=)
| |
21 | g.45984397C>G | CA410516164 | COL6A1 | c.356C>G (p.Ala119Gly)
| |
21 | g.45984397C>T | CA10069545 | COL6A1 | c.356C>T (p.Ala119Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984398G>A | CA10069546 | COL6A1 | c.357G>A (p.Ala119=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984398G>C | CA513169108 | COL6A1 | c.357G>C (p.Ala119=)
| |
21 | g.45984398G= | CA2392430072 | COL6A1 | c.357G= (p.Ala119=)
| |
21 | g.45984398G>T | CA513169109 | COL6A1 | c.357G>T (p.Ala119=)
| gnomAD v4 COSMIC |
21 | g.45984399G>A | CA410516168 | COL6A1 | c.358G>A (p.Val120Ile)
| |
21 | g.45984399G>C | CA410516170 | COL6A1 | c.358G>C (p.Val120Leu)
| |
21 | g.45984399G>T | CA410516171 | COL6A1 | c.358G>T (p.Val120Phe)
| |
21 | g.45984400T>A | CA410516174 | COL6A1 | c.359T>A (p.Val120Asp)
| |
21 | g.45984400T>C | CA410516176 | COL6A1 | c.359T>C (p.Val120Ala)
| gnomAD v4 |
21 | g.45984400T>G | CA410516175 | COL6A1 | c.359T>G (p.Val120Gly)
| |
21 | g.45984401C>A | CA513169113 | COL6A1 | c.360C>A (p.Val120=)
| gnomAD v4 |
21 | g.45984401C= | CA2392430073 | COL6A1 | c.360C= (p.Val120=)
| |
21 | g.45984401C>G | CA513169115 | COL6A1 | c.360C>G (p.Val120=)
| |
21 | g.45984401C>T | CA513169116 | COL6A1 | c.360C>T (p.Val120=)
| dbSNP gnomAD v4 |
21 | g.45984402A= | CA2392430074 | COL6A1 | c.361A= (p.Lys121=)
| |
21 | g.45984402A>C | CA410516179 | COL6A1 | c.361A>C (p.Lys121Gln)
| |
21 | g.45984402A>G | CA410516181 | COL6A1 | c.361A>G (p.Lys121Glu)
| dbSNP gnomAD v4 COSMIC |
21 | g.45984402A>T | CA410516184 | COL6A1 | c.361A>T (p.Lys121Ter)
| |
21 | g.45984403A= | CA2392430075 | COL6A1 | c.362A= (p.Lys121=)
| |
21 | g.45984403A>C | CA410516186 | COL6A1 | c.362A>C (p.Lys121Thr)
| |
21 | g.45984403A>G | CA221786 | COL6A1 | c.362A>G (p.Lys121Arg)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984403A>T | CA410516188 | COL6A1 | c.362A>T (p.Lys121Met)
| |
21 | g.45984404G>A | CA513169118 | COL6A1 | c.363G>A (p.Lys121=)
| gnomAD v4 |
21 | g.45984404G>C | CA410516191 | COL6A1 | c.363G>C (p.Lys121Asn)
| |
21 | g.45984404G>T | CA410516192 | COL6A1 | c.363G>T (p.Lys121Asn)
| |
21 | g.45984405T>A | CA410516193 | COL6A1 | c.364T>A (p.Tyr122Asn)
| gnomAD v4 |
21 | g.45984405T>C | CA410516195 | COL6A1 | c.364T>C (p.Tyr122His)
| |
21 | g.45984405T>G | CA410516196 | COL6A1 | c.364T>G (p.Tyr122Asp)
| |
21 | g.45984406A= | CA2392430076 | COL6A1 | c.365A= (p.Tyr122=)
| |
21 | g.45984406A>C | CA410516202 | COL6A1 | c.365A>C (p.Tyr122Ser)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984406A>G | CA410516198 | COL6A1 | c.365A>G (p.Tyr122Cys)
| |
21 | g.45984406A>T | CA410516200 | COL6A1 | c.365A>T (p.Tyr122Phe)
| |
21 | g.45984407C>A | CA410516204 | COL6A1 | c.366C>A (p.Tyr122Ter)
| |
21 | g.45984407C= | CA2392430077 | COL6A1 | c.366C= (p.Tyr122=)
| |
21 | g.45984407C>G | CA410516206 | COL6A1 | c.366C>G (p.Tyr122Ter)
| gnomAD v4 |
21 | g.45984407C>T | CA10069547 | COL6A1 | c.366C>T (p.Tyr122=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984408T>A | CA410516210 | COL6A1 | c.367T>A (p.Phe123Ile)
| gnomAD v4 |
21 | g.45984408T>C | CA410516211 | COL6A1 | c.367T>C (p.Phe123Leu)
| |
21 | g.45984408T>G | CA410516213 | COL6A1 | c.367T>G (p.Phe123Val)
| |
21 | g.45984409T>A | CA410516215 | COL6A1 | c.368T>A (p.Phe123Tyr)
| |
21 | g.45984409T>C | CA410516217 | COL6A1 | c.368T>C (p.Phe123Ser)
| |
21 | g.45984409T>G | CA410516220 | COL6A1 | c.368T>G (p.Phe123Cys)
| |
21 | g.45984410T>A | CA410516222 | COL6A1 | c.369T>A (p.Phe123Leu)
| |
21 | g.45984410T>C | CA513169124 | COL6A1 | c.369T>C (p.Phe123=)
| |
21 | g.45984410T>G | CA410516224 | COL6A1 | c.369T>G (p.Phe123Leu)
| |
21 | g.45984411G>A | CA410516228 | COL6A1 | c.370G>A (p.Gly124Arg)
| |
21 | g.45984411G>C | CA410516229 | COL6A1 | c.370G>C (p.Gly124Arg)
| gnomAD v4 |
21 | g.45984411G>T | CA410516227 | COL6A1 | c.370G>T (p.Gly124Trp)
| |
21 | g.45984412G>A | CA410516232 | COL6A1 | c.371G>A (p.Gly124Glu)
| dbSNP gnomAD v4 |
21 | g.45984412G>C | CA410516230 | COL6A1 | c.371G>C (p.Gly124Ala)
| |
21 | g.45984412G= | CA2392430078 | COL6A1 | c.371G= (p.Gly124=)
| |
21 | g.45984412G>T | CA410516231 | COL6A1 | c.371G>T (p.Gly124Val)
| |
21 | g.45984413G>A | CA513169125 | COL6A1 | c.372G>A (p.Gly124=)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984413G>C | CA513169126 | COL6A1 | c.372G>C (p.Gly124=)
| |
21 | g.45984413G= | CA2392430079 | COL6A1 | c.372G= (p.Gly124=)
| |
21 | g.45984413G>T | CA513169128 | COL6A1 | c.372G>T (p.Gly124=)
| |
21 | g.45984414A>C | CA410516234 | COL6A1 | c.373A>C (p.Lys125Gln)
| |
21 | g.45984414A>G | CA410516236 | COL6A1 | c.373A>G (p.Lys125Glu)
| |
21 | g.45984414A>T | CA410516238 | COL6A1 | c.373A>T (p.Lys125Ter)
| |
21 | g.45984415A>C | CA410516239 | COL6A1 | c.374A>C (p.Lys125Thr)
| |
21 | g.45984415A>G | CA410516240 | COL6A1 | c.374A>G (p.Lys125Arg)
| gnomAD v4 |
21 | g.45984415A>T | CA410516242 | COL6A1 | c.374A>T (p.Lys125Met)
| |
21 | g.45984416G>A | CA513169133 | COL6A1 | c.375G>A (p.Lys125=)
| |
21 | g.45984416G>C | CA410516244 | COL6A1 | c.375G>C (p.Lys125Asn)
| ClinVar dbSNP |
21 | g.45984416G= | CA2392430080 | COL6A1 | c.375G= (p.Lys125=)
| |
21 | g.45984416G>T | CA410516245 | COL6A1 | c.375G>T (p.Lys125Asn)
| |
21 | g.45984417G>A | CA10605884 | COL6A1 | c.376G>A (p.Gly126Ser)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984417G>C | CA410516247 | COL6A1 | c.376G>C (p.Gly126Arg)
| |
21 | g.45984417G= | CA2392430081 | COL6A1 | c.376G= (p.Gly126=)
| |
21 | g.45984417G>T | CA410516249 | COL6A1 | c.376G>T (p.Gly126Cys)
| |
21 | g.45984418G>A | CA410516251 | COL6A1 | c.377G>A (p.Gly126Asp)
| |
21 | g.45984418G>C | CA410516253 | COL6A1 | c.377G>C (p.Gly126Ala)
| |
21 | g.45984418G= | CA2392430082 | COL6A1 | c.377G= (p.Gly126=)
| |
21 | g.45984418G>T | CA410516252 | COL6A1 | c.377G>T (p.Gly126Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984419C>A | CA513169136 | COL6A1 | c.378C>A (p.Gly126=)
| |
21 | g.45984419C= | CA2392430083 | COL6A1 | c.378C= (p.Gly126=)
| |
21 | g.45984419C>G | CA513169138 | COL6A1 | c.378C>G (p.Gly126=)
| |
21 | g.45984419C>T | CA10069548 | COL6A1 | c.378C>T (p.Gly126=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |