Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
2 | g.188999894_189002903del | CA2740096382 | COL3A1 | c.2183_2347-52del c.2282_2446-52del | ClinVar |
2 | g.188999894_189002899del | CA2740096383 | COL3A1 | c.2183_2347-56del c.2282_2446-56del | ClinVar |
2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
2 | g.189001405T>A | CA430310863 | COL3A1 | c.2193T>A (p.Thr731=) c.2292T>A (p.Thr764=) | |
2 | g.189001405T>C | CA430310864 | COL3A1 | c.2193T>C (p.Thr731=) c.2292T>C (p.Thr764=) | gnomAD v4 |
2 | g.189001405T>G | CA430310865 | COL3A1 | c.2193T>G (p.Thr731=) c.2292T>G (p.Thr764=) | |
2 | g.189001406G>A | CA005305 | COL3A1 | c.2194G>A (p.Gly732Ser) c.2293G>A (p.Gly765Ser) | ClinVar dbSNP |
2 | g.189001406G>C | CA349842356 | COL3A1 | c.2194G>C (p.Gly732Arg) c.2293G>C (p.Gly765Arg) | |
2 | g.189001406G= | CA1315401849 | COL3A1 | c.2194G= (p.Gly732=) c.2293G= (p.Gly765=) | |
2 | g.189001406G>T | CA349842357 | COL3A1 | c.2194G>T (p.Gly732Cys) c.2293G>T (p.Gly765Cys) | |
2 | g.189001407G>A | CA349842358 | COL3A1 | c.2195G>A (p.Gly732Asp) c.2294G>A (p.Gly765Asp) | |
2 | g.189001407G>C | CA349842359 | COL3A1 | c.2195G>C (p.Gly732Ala) c.2294G>C (p.Gly765Ala) | |
2 | g.189001407G= | CA1315401850 | COL3A1 | c.2195G= (p.Gly732=) c.2294G= (p.Gly765=) | |
2 | g.189001407G>T | CA005313 | COL3A1 | c.2195G>T (p.Gly732Val) c.2294G>T (p.Gly765Val) | ClinVar dbSNP |
2 | g.189001408T>A | CA430310871 | COL3A1 | c.2196T>A (p.Gly732=) c.2295T>A (p.Gly765=) | |
2 | g.189001408T>C | CA430310868 | COL3A1 | c.2196T>C (p.Gly732=) c.2295T>C (p.Gly765=) | |
2 | g.189001408T>G | CA430310869 | COL3A1 | c.2196T>G (p.Gly732=) c.2295T>G (p.Gly765=) | |
2 | g.189001409C>A | CA349842360 | COL3A1 | c.2197C>A (p.Pro733Thr) c.2296C>A (p.Pro766Thr) | dbSNP |
2 | g.189001409C>G | CA349842361 | COL3A1 | c.2197C>G (p.Pro733Ala) c.2296C>G (p.Pro766Ala) | ClinVar |
2 | g.189001409C>T | CA349842362 | COL3A1 | c.2197C>T (p.Pro733Ser) c.2296C>T (p.Pro766Ser) | COSMIC COSMIC |
2 | g.189001410C>A | CA349842363 | COL3A1 | c.2198C>A (p.Pro733His) c.2297C>A (p.Pro766His) | |
2 | g.189001410C>G | CA349842364 | COL3A1 | c.2198C>G (p.Pro733Arg) c.2297C>G (p.Pro766Arg) | |
2 | g.189001410C>T | CA349842365 | COL3A1 | c.2198C>T (p.Pro733Leu) c.2297C>T (p.Pro766Leu) | gnomAD v4 |
2 | g.189001411T>A | CA430310874 | COL3A1 | c.2199T>A (p.Pro733=) c.2298T>A (p.Pro766=) | |
2 | g.189001411T>C | CA430310876 | COL3A1 | c.2199T>C (p.Pro733=) c.2298T>C (p.Pro766=) | |
2 | g.189001411T>G | CA430310877 | COL3A1 | c.2199T>G (p.Pro733=) c.2298T>G (p.Pro766=) | ClinVar dbSNP gnomAD v2 |
2 | g.189001411T= | CA1315401851 | COL3A1 | c.2199T= (p.Pro733=) c.2298T= (p.Pro766=) | |
2 | g.189001412A= | CA1315401852 | COL3A1 | c.2200A= (p.Ile734=) c.2299A= (p.Ile767=) | |
2 | g.189001412A>C | CA349842366 | COL3A1 | c.2200A>C (p.Ile734Leu) c.2299A>C (p.Ile767Leu) | |
2 | g.189001412A>G | CA349842368 | COL3A1 | c.2200A>G (p.Ile734Val) c.2299A>G (p.Ile767Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001412A>T | CA349842367 | COL3A1 | c.2200A>T (p.Ile734Phe) c.2299A>T (p.Ile767Phe) | ClinVar gnomAD v4 |
2 | g.189001412_189001429dup | CA2586965494 | COL3A1 | c.2200_2217dup (p.Pro739_Ala740insIleGlyProProGlyPro) c.2299_2316dup (p.Pro772_Ala773insIleGlyProProGlyPro) | |
2 | g.189001413T>A | CA349842369 | COL3A1 | c.2201T>A (p.Ile734Asn) c.2300T>A (p.Ile767Asn) | |
2 | g.189001413T>C | CA349842370 | COL3A1 | c.2201T>C (p.Ile734Thr) c.2300T>C (p.Ile767Thr) | |
2 | g.189001413T>G | CA349842371 | COL3A1 | c.2201T>G (p.Ile734Ser) c.2300T>G (p.Ile767Ser) | |
2 | g.189001414T>A | CA430310880 | COL3A1 | c.2202T>A (p.Ile734=) c.2301T>A (p.Ile767=) | |
2 | g.189001414T>C | CA430310881 | COL3A1 | c.2202T>C (p.Ile734=) c.2301T>C (p.Ile767=) | ClinVar dbSNP gnomAD v4 |
2 | g.189001414T>G | CA349842372 | COL3A1 | c.2202T>G (p.Ile734Met) c.2301T>G (p.Ile767Met) | |
2 | g.189001414T= | CA1315401853 | COL3A1 | c.2202T= (p.Ile734=) c.2301T= (p.Ile767=) | |
2 | g.189001415G>A | CA349842375 | COL3A1 | c.2203G>A (p.Gly735Ser) c.2302G>A (p.Gly768Ser) | |
2 | g.189001415G>C | CA349842374 | COL3A1 | c.2203G>C (p.Gly735Arg) c.2302G>C (p.Gly768Arg) | ClinVar |
2 | g.189001415G>T | CA349842373 | COL3A1 | c.2203G>T (p.Gly735Cys) c.2302G>T (p.Gly768Cys) | |
2 | g.189001416G>A | CA349842376 | COL3A1 | c.2204G>A (p.Gly735Asp) c.2303G>A (p.Gly768Asp) | |
2 | g.189001416G>C | CA349842378 | COL3A1 | c.2204G>C (p.Gly735Ala) c.2303G>C (p.Gly768Ala) | |
2 | g.189001416G>T | CA349842377 | COL3A1 | c.2204G>T (p.Gly735Val) c.2303G>T (p.Gly768Val) | COSMIC COSMIC |
2 | g.189001417T>A | CA430310887 | COL3A1 | c.2205T>A (p.Gly735=) c.2304T>A (p.Gly768=) | |
2 | g.189001417T>C | CA430310888 | COL3A1 | c.2205T>C (p.Gly735=) c.2304T>C (p.Gly768=) | ClinVar |
2 | g.189001417T>G | CA430310885 | COL3A1 | c.2205T>G (p.Gly735=) c.2304T>G (p.Gly768=) | |
2 | g.189001421_189001423del | CA2580616653 | COL3A1 | c.2209_2211del (p.Pro737del) c.2308_2310del (p.Pro770del) | ClinVar dbSNP |
2 | g.189001418C>A | CA349842379 | COL3A1 | c.2206C>A (p.Pro736Thr) c.2305C>A (p.Pro769Thr) | |
2 | g.189001418C= | CA1315401854 | COL3A1 | c.2206C= (p.Pro736=) c.2305C= (p.Pro769=) | |
2 | g.189001418C>G | CA349842380 | COL3A1 | c.2206C>G (p.Pro736Ala) c.2305C>G (p.Pro769Ala) | |
2 | g.189001418C>T | CA075199 | COL3A1 | c.2206C>T (p.Pro736Ser) c.2305C>T (p.Pro769Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.189001419C>A | CA349842381 | COL3A1 | c.2207C>A (p.Pro736His) c.2306C>A (p.Pro769His) | |
2 | g.189001419C>G | CA349842382 | COL3A1 | c.2207C>G (p.Pro736Arg) c.2306C>G (p.Pro769Arg) | |
2 | g.189001419C>T | CA349842383 | COL3A1 | c.2207C>T (p.Pro736Leu) c.2306C>T (p.Pro769Leu) | |
2 | g.189001420T>A | CA430310891 | COL3A1 | c.2208T>A (p.Pro736=) c.2307T>A (p.Pro769=) | |
2 | g.189001420T>C | CA430310892 | COL3A1 | c.2208T>C (p.Pro736=) c.2307T>C (p.Pro769=) | gnomAD v4 |
2 | g.189001420T>G | CA430310893 | COL3A1 | c.2208T>G (p.Pro736=) c.2307T>G (p.Pro769=) | |
2 | g.189001421C>A | CA349842384 | COL3A1 | c.2209C>A (p.Pro737Thr) c.2308C>A (p.Pro770Thr) | |
2 | g.189001421C= | CA1315401855 | COL3A1 | c.2209C= (p.Pro737=) c.2308C= (p.Pro770=) | |
2 | g.189001421C>G | CA349842385 | COL3A1 | c.2209C>G (p.Pro737Ala) c.2308C>G (p.Pro770Ala) | |
2 | g.189001421C>T | CA075200 | COL3A1 | c.2209C>T (p.Pro737Ser) c.2308C>T (p.Pro770Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.189001422C>A | CA349842386 | COL3A1 | c.2210C>A (p.Pro737His) c.2309C>A (p.Pro770His) | |
2 | g.189001422C= | CA1315401856 | COL3A1 | c.2210C= (p.Pro737=) c.2309C= (p.Pro770=) | |
2 | g.189001422C>G | CA349842387 | COL3A1 | c.2210C>G (p.Pro737Arg) c.2309C>G (p.Pro770Arg) | |
2 | g.189001422C>T | CA349842388 | COL3A1 | c.2210C>T (p.Pro737Leu) c.2309C>T (p.Pro770Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189001423T>A | CA430310897 | COL3A1 | c.2211T>A (p.Pro737=) c.2310T>A (p.Pro770=) | |
2 | g.189001423T>C | CA430310898 | COL3A1 | c.2211T>C (p.Pro737=) c.2310T>C (p.Pro770=) | |
2 | g.189001423T>G | CA430310904 | COL3A1 | c.2211T>G (p.Pro737=) c.2310T>G (p.Pro770=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189001423T= | CA1315401857 | COL3A1 | c.2211T= (p.Pro737=) c.2310T= (p.Pro770=) | |
2 | g.189001424G>A | CA349842389 | COL3A1 | c.2212G>A (p.Gly738Ser) c.2311G>A (p.Gly771Ser) | gnomAD v4 |
2 | g.189001424G>C | CA349842390 | COL3A1 | c.2212G>C (p.Gly738Arg) c.2311G>C (p.Gly771Arg) | |
2 | g.189001424G>T | CA349842391 | COL3A1 | c.2212G>T (p.Gly738Cys) c.2311G>T (p.Gly771Cys) | |
2 | g.189001425G>A | CA16610666 | COL3A1 | c.2213G>A (p.Gly738Asp) c.2312G>A (p.Gly771Asp) | ClinVar dbSNP |
2 | g.189001425G>C | CA349842392 | COL3A1 | c.2213G>C (p.Gly738Ala) c.2312G>C (p.Gly771Ala) | |
2 | g.189001425G= | CA1315401858 | COL3A1 | c.2213G= (p.Gly738=) c.2312G= (p.Gly771=) | |
2 | g.189001425G>T | CA349842393 | COL3A1 | c.2213G>T (p.Gly738Val) c.2312G>T (p.Gly771Val) | |
2 | g.189001426C>A | CA430310907 | COL3A1 | c.2214C>A (p.Gly738=) c.2313C>A (p.Gly771=) | gnomAD v4 |
2 | g.189001426C>G | CA430310909 | COL3A1 | c.2214C>G (p.Gly738=) c.2313C>G (p.Gly771=) | |
2 | g.189001426C>T | CA430310911 | COL3A1 | c.2214C>T (p.Gly738=) c.2313C>T (p.Gly771=) | |
2 | g.189001427C>A | CA349842394 | COL3A1 | c.2215C>A (p.Pro739Thr) c.2314C>A (p.Pro772Thr) | |
2 | g.189001427C>G | CA349842395 | COL3A1 | c.2215C>G (p.Pro739Ala) c.2314C>G (p.Pro772Ala) | |
2 | g.189001427C>T | CA349842396 | COL3A1 | c.2215C>T (p.Pro739Ser) c.2314C>T (p.Pro772Ser) | dbSNP |
2 | g.189001428C>A | CA349842397 | COL3A1 | c.2216C>A (p.Pro739Gln) c.2315C>A (p.Pro772Gln) | |
2 | g.189001428C>G | CA349842398 | COL3A1 | c.2216C>G (p.Pro739Arg) c.2315C>G (p.Pro772Arg) | |
2 | g.189001428C>T | CA349842399 | COL3A1 | c.2216C>T (p.Pro739Leu) c.2315C>T (p.Pro772Leu) | |
2 | g.189001429A= | CA1315401859 | COL3A1 | c.2217A= (p.Pro739=) c.2316A= (p.Pro772=) | |
2 | g.189001429A>C | CA430310917 | COL3A1 | c.2217A>C (p.Pro739=) c.2316A>C (p.Pro772=) | |
2 | g.189001429A>G | CA075202 | COL3A1 | c.2217A>G (p.Pro739=) c.2316A>G (p.Pro772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189001429A>T | CA430310915 | COL3A1 | c.2217A>T (p.Pro739=) c.2316A>T (p.Pro772=) | |
2 | g.189001430G>A | CA349842400 | COL3A1 | c.2218G>A (p.Ala740Thr) c.2317G>A (p.Ala773Thr) | |
2 | g.189001430G>C | CA349842401 | COL3A1 | c.2218G>C (p.Ala740Pro) c.2317G>C (p.Ala773Pro) | |
2 | g.189001430G= | CA1315401860 | COL3A1 | c.2218G= (p.Ala740=) c.2317G= (p.Ala773=) | |
2 | g.189001430G>T | CA349842402 | COL3A1 | c.2218G>T (p.Ala740Ser) c.2317G>T (p.Ala773Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001431C>A | CA349842405 | COL3A1 | c.2219C>A (p.Ala740Asp) c.2318C>A (p.Ala773Asp) | |
2 | g.189001431C>G | CA349842404 | COL3A1 | c.2219C>G (p.Ala740Gly) c.2318C>G (p.Ala773Gly) | ClinVar dbSNP |
2 | g.189001431C>T | CA349842403 | COL3A1 | c.2219C>T (p.Ala740Val) c.2318C>T (p.Ala773Val) | |
2 | g.189001432T>A | CA430310919 | COL3A1 | c.2220T>A (p.Ala740=) c.2319T>A (p.Ala773=) | |
2 | g.189001432T>C | CA430310921 | COL3A1 | c.2220T>C (p.Ala740=) c.2319T>C (p.Ala773=) | ClinVar dbSNP |
2 | g.189001432T>G | CA430310923 | COL3A1 | c.2220T>G (p.Ala740=) c.2319T>G (p.Ala773=) | |
2 | g.189001433G>A | CA349842406 | COL3A1 | c.2221G>A (p.Gly741Ser) c.2320G>A (p.Gly774Ser) | |
2 | g.189001433G>C | CA349842407 | COL3A1 | c.2221G>C (p.Gly741Arg) c.2320G>C (p.Gly774Arg) | |
2 | g.189001433G>T | CA349842408 | COL3A1 | c.2221G>T (p.Gly741Cys) c.2320G>T (p.Gly774Cys) | |
2 | g.189001434G>A | CA349842409 | COL3A1 | c.2222G>A (p.Gly741Asp) c.2321G>A (p.Gly774Asp) | ClinVar gnomAD v4 |
2 | g.189001434G>C | CA349842410 | COL3A1 | c.2222G>C (p.Gly741Ala) c.2321G>C (p.Gly774Ala) | |
2 | g.189001434G>T | CA349842411 | COL3A1 | c.2222G>T (p.Gly741Val) c.2321G>T (p.Gly774Val) | |
2 | g.189001435C>A | CA430310931 | COL3A1 | c.2223C>A (p.Gly741=) c.2322C>A (p.Gly774=) | |
2 | g.189001435C= | CA1315401861 | COL3A1 | c.2223C= (p.Gly741=) c.2322C= (p.Gly774=) | |
2 | g.189001435C>G | CA430310932 | COL3A1 | c.2223C>G (p.Gly741=) c.2322C>G (p.Gly774=) | |
2 | g.189001435C>T | CA430310936 | COL3A1 | c.2223C>T (p.Gly741=) c.2322C>T (p.Gly774=) | dbSNP |
2 | g.189001436C>A | CA349842412 | COL3A1 | c.2224C>A (p.Gln742Lys) c.2323C>A (p.Gln775Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189001436C= | CA1315401862 | COL3A1 | c.2224C= (p.Gln742=) c.2323C= (p.Gln775=) | |
2 | g.189001436C>G | CA349842413 | COL3A1 | c.2224C>G (p.Gln742Glu) c.2323C>G (p.Gln775Glu) | |
2 | g.189001436C>T | CA349842414 | COL3A1 | c.2224C>T (p.Gln742Ter) c.2323C>T (p.Gln775Ter) | |
2 | g.189001437A>C | CA349842415 | COL3A1 | c.2225A>C (p.Gln742Pro) c.2324A>C (p.Gln775Pro) | |
2 | g.189001437A>G | CA349842416 | COL3A1 | c.2225A>G (p.Gln742Arg) c.2324A>G (p.Gln775Arg) | |
2 | g.189001437A>T | CA349842417 | COL3A1 | c.2225A>T (p.Gln742Leu) c.2324A>T (p.Gln775Leu) | |
2 | g.189001438G>A | CA430310939 | COL3A1 | c.2226G>A (p.Gln742=) c.2325G>A (p.Gln775=) | dbSNP |
2 | g.189001438G>C | CA349842419 | COL3A1 | c.2226G>C (p.Gln742His) c.2325G>C (p.Gln775His) | |
2 | g.189001438G= | CA1315401863 | COL3A1 | c.2226G= (p.Gln742=) c.2325G= (p.Gln775=) | |
2 | g.189001438G>T | CA349842418 | COL3A1 | c.2226G>T (p.Gln742His) c.2325G>T (p.Gln775His) | gnomAD v4 |
2 | g.189001439C>A | CA349842420 | COL3A1 | c.2227C>A (p.Pro743Thr) c.2326C>A (p.Pro776Thr) | |
2 | g.189001439C>G | CA349842421 | COL3A1 | c.2227C>G (p.Pro743Ala) c.2326C>G (p.Pro776Ala) | |
2 | g.189001439C>T | CA349842422 | COL3A1 | c.2227C>T (p.Pro743Ser) c.2326C>T (p.Pro776Ser) | |
2 | g.189001440del | CA2753571817 | COL3A1 | c.2228del (p.Pro743LeufsTer15) c.2327del (p.Pro776LeufsTer15) | |
2 | g.189001440C>A | CA349842423 | COL3A1 | c.2228C>A (p.Pro743His) c.2327C>A (p.Pro776His) | dbSNP |
2 | g.189001440C= | CA1315401864 | COL3A1 | c.2228C= (p.Pro743=) c.2327C= (p.Pro776=) | |
2 | g.189001440C>G | CA349842424 | COL3A1 | c.2228C>G (p.Pro743Arg) c.2327C>G (p.Pro776Arg) | |
2 | g.189001440C>T | CA349842425 | COL3A1 | c.2228C>T (p.Pro743Leu) c.2327C>T (p.Pro776Leu) | gnomAD v4 |
2 | g.189001441T>A | CA430310941 | COL3A1 | c.2229T>A (p.Pro743=) c.2328T>A (p.Pro776=) | |
2 | g.189001441T>C | CA430310942 | COL3A1 | c.2229T>C (p.Pro743=) c.2328T>C (p.Pro776=) | |
2 | g.189001441T>G | CA430310943 | COL3A1 | c.2229T>G (p.Pro743=) c.2328T>G (p.Pro776=) | |
2 | g.189001442G>A | CA349842426 | COL3A1 | c.2230G>A (p.Gly744Arg) c.2329G>A (p.Gly777Arg) | |
2 | g.189001442G>C | CA349842427 | COL3A1 | c.2230G>C (p.Gly744Arg) c.2329G>C (p.Gly777Arg) | |
2 | g.189001442G>T | CA349842428 | COL3A1 | c.2230G>T (p.Gly744Ter) c.2329G>T (p.Gly777Ter) | |
2 | g.189001443G>A | CA349842429 | COL3A1 | c.2231G>A (p.Gly744Glu) c.2330G>A (p.Gly777Glu) | ClinVar COSMIC |
2 | g.189001443G>C | CA349842430 | COL3A1 | c.2231G>C (p.Gly744Ala) c.2330G>C (p.Gly777Ala) | |
2 | g.189001443G>T | CA349842431 | COL3A1 | c.2231G>T (p.Gly744Val) c.2330G>T (p.Gly777Val) | |
2 | g.189001444A>C | CA430310950 | COL3A1 | c.2232A>C (p.Gly744=) c.2331A>C (p.Gly777=) | |
2 | g.189001444A>G | CA430310948 | COL3A1 | c.2232A>G (p.Gly744=) c.2331A>G (p.Gly777=) | |
2 | g.189001444A>T | CA430310949 | COL3A1 | c.2232A>T (p.Gly744=) c.2331A>T (p.Gly777=) | |
2 | g.189001445G>A | CA349842433 | COL3A1 | c.2233G>A (p.Asp745Asn) c.2332G>A (p.Asp778Asn) | gnomAD v4 |
2 | g.189001445G>C | CA62555615 | COL3A1 | c.2233G>C (p.Asp745His) c.2332G>C (p.Asp778His) | dbSNP |
2 | g.189001445G= | CA1315401865 | COL3A1 | c.2233G= (p.Asp745=) c.2332G= (p.Asp778=) | |
2 | g.189001445G>T | CA349842432 | COL3A1 | c.2233G>T (p.Asp745Tyr) c.2332G>T (p.Asp778Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189001446A>C | CA349842434 | COL3A1 | c.2234A>C (p.Asp745Ala) c.2333A>C (p.Asp778Ala) | |
2 | g.189001446A>G | CA349842436 | COL3A1 | c.2234A>G (p.Asp745Gly) c.2333A>G (p.Asp778Gly) | |
2 | g.189001446A>T | CA349842435 | COL3A1 | c.2234A>T (p.Asp745Val) c.2333A>T (p.Asp778Val) | |
2 | g.189001447T>A | CA349842437 | COL3A1 | c.2235T>A (p.Asp745Glu) c.2334T>A (p.Asp778Glu) | |
2 | g.189001447T>C | CA430310955 | COL3A1 | c.2235T>C (p.Asp745=) c.2334T>C (p.Asp778=) | |
2 | g.189001447T>G | CA349842438 | COL3A1 | c.2235T>G (p.Asp745Glu) c.2334T>G (p.Asp778Glu) | dbSNP |
2 | g.189001447T= | CA1315401866 | COL3A1 | c.2235T= (p.Asp745=) c.2334T= (p.Asp778=) | |
2 | g.189001448A>C | CA349842439 | COL3A1 | c.2236A>C (p.Lys746Gln) c.2335A>C (p.Lys779Gln) | gnomAD v4 |
2 | g.189001448A>G | CA349842440 | COL3A1 | c.2236A>G (p.Lys746Glu) c.2335A>G (p.Lys779Glu) | |
2 | g.189001448A>T | CA349842441 | COL3A1 | c.2236A>T (p.Lys746Ter) c.2335A>T (p.Lys779Ter) | |
2 | g.189001449A>C | CA349842442 | COL3A1 | c.2237A>C (p.Lys746Thr) c.2336A>C (p.Lys779Thr) | |
2 | g.189001449A>G | CA349842443 | COL3A1 | c.2237A>G (p.Lys746Arg) c.2336A>G (p.Lys779Arg) | |
2 | g.189001449A>T | CA349842444 | COL3A1 | c.2237A>T (p.Lys746Met) c.2336A>T (p.Lys779Met) | |
2 | g.189001450G>A | CA005337 | COL3A1 | c.2238G>A (p.Lys746=) c.2337G>A (p.Lys779=) | ClinVar dbSNP |
2 | g.189001450G>C | CA349842445 | COL3A1 | c.2238G>C (p.Lys746Asn) c.2337G>C (p.Lys779Asn) | ClinVar |
2 | g.189001450G= | CA1315401867 | COL3A1 | c.2238G= (p.Lys746=) c.2337G= (p.Lys779=) | |
2 | g.189001450G>T | CA349842446 | COL3A1 | c.2238G>T (p.Lys746Asn) c.2337G>T (p.Lys779Asn) | |
2 | g.189001451G>A | CA005320 | COL3A1 | c.2238+1G>A (n.2238+1G>A) c.2337+1G>A (n.2337+1G>A) | ClinVar dbSNP |
2 | g.189001451G>C | CA349842448 | COL3A1 | c.2238+1G>C (n.2238+1G>C) c.2337+1G>C (n.2337+1G>C) | |
2 | g.189001451G= | CA1315401868 | COL3A1 | c.2238+1G= (n.2238+1G=) c.2337+1G= (n.2337+1G=) | |
2 | g.189001451G>T | CA349842447 | COL3A1 | c.2238+1G>T (n.2238+1G>T) c.2337+1G>T (n.2337+1G>T) | |
2 | g.189001452T>A | CA349842449 | COL3A1 | c.2238+2T>A (n.2238+2T>A) c.2337+2T>A (n.2337+2T>A) | |
2 | g.189001452T>C | CA005327 | COL3A1 | c.2238+2T>C (n.2238+2T>C) c.2337+2T>C (n.2337+2T>C) | ClinVar dbSNP |
2 | g.189001452T>G | CA349842450 | COL3A1 | c.2238+2T>G (n.2238+2T>G) c.2337+2T>G (n.2337+2T>G) | |
2 | g.189001452T= | CA1315401869 | COL3A1 | c.2238+2T= (n.2238+2T=) c.2337+2T= (n.2337+2T=) | |
2 | g.189001454A= | CA1315401870 | COL3A1 | c.2238+4A= (n.2238+4A=) c.2337+4A= (n.2337+4A=) | |
2 | g.189001454A>G | CA075218 | COL3A1 | c.2238+4A>G (n.2238+4A>G) c.2337+4A>G (n.2337+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189001455C>T | CA2662309366 | COL3A1 | c.2238+5C>T (n.2238+5C>T) c.2337+5C>T (n.2337+5C>T) | gnomAD v4 |
2 | g.189001456C>A | CA538448789 | COL3A1 | c.2238+6C>A (n.2238+6C>A) c.2337+6C>A (n.2337+6C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189001456C= | CA1315401871 | COL3A1 | c.2238+6C= (n.2238+6C=) c.2337+6C= (n.2337+6C=) | |
2 | g.189001456C>T | CA2662309367 | COL3A1 | c.2238+6C>T (n.2238+6C>T) c.2337+6C>T (n.2337+6C>T) | gnomAD v4 |
2 | g.189001457C>A | CA16610550 | COL3A1 | c.2238+7C>A (n.2238+7C>A) c.2337+7C>A (n.2337+7C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189001457C= | CA1315401872 | COL3A1 | c.2238+7C= (n.2238+7C=) c.2337+7C= (n.2337+7C=) | |
2 | g.189001461A= | CA1315401873 | COL3A1 | c.2238+11A= (n.2238+11A=) c.2337+11A= (n.2337+11A=) | |
2 | g.189001461A>C | CA075205 | COL3A1 | c.2238+11A>C (n.2238+11A>C) c.2337+11A>C (n.2337+11A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001465_189001467del | CA2577185693 | COL3A1 | c.2238+15_2238+17del (n.2238+15_2238+17del) c.2337+15_2337+17del (n.2337+15_2337+17del) | |
2 | g.189001463A= | CA1315401874 | COL3A1 | c.2238+13A= (n.2238+13A=) c.2337+13A= (n.2337+13A=) | |
2 | g.189001463A>C | CA075206 | COL3A1 | c.2238+13A>C (n.2238+13A>C) c.2337+13A>C (n.2337+13A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189001463A>G | CA1040410543 | COL3A1 | c.2238+13A>G (n.2238+13A>G) c.2337+13A>G (n.2337+13A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189001464C>A | CA2662309368 | COL3A1 | c.2238+14C>A (n.2238+14C>A) c.2337+14C>A (n.2337+14C>A) | gnomAD v4 |
2 | g.189001464C= | CA1315401875 | COL3A1 | c.2238+14C= (n.2238+14C=) c.2337+14C= (n.2337+14C=) | |
2 | g.189001464C>G | CA538448790 | COL3A1 | c.2238+14C>G (n.2238+14C>G) c.2337+14C>G (n.2337+14C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189001465T>C | CA2523645401 | COL3A1 | c.2238+15T>C (n.2238+15T>C) c.2337+15T>C (n.2337+15T>C) | ClinVar gnomAD v4 |
2 | g.189001466A= | CA1315401876 | COL3A1 | c.2238+16A= (n.2238+16A=) c.2337+16A= (n.2337+16A=) | |
2 | g.189001466A>G | CA075209 | COL3A1 | c.2238+16A>G (n.2238+16A>G) c.2337+16A>G (n.2337+16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001467C>T | CA2662309369 | COL3A1 | c.2238+17C>T (n.2238+17C>T) c.2337+17C>T (n.2337+17C>T) | dbSNP gnomAD v4 |
2 | g.189001468C>A | CA1315401878 | COL3A1 | c.2238+18C>A (n.2238+18C>A) c.2337+18C>A (n.2337+18C>A) | dbSNP |
2 | g.189001468C= | CA1315401877 | COL3A1 | c.2238+18C= (n.2238+18C=) c.2337+18C= (n.2337+18C=) | |
2 | g.189001468C>G | CA1315401879 | COL3A1 | c.2238+18C>G (n.2238+18C>G) c.2337+18C>G (n.2337+18C>G) | dbSNP gnomAD v4 |
2 | g.189001469T>A | CA647397741 | COL3A1 | c.2238+19T>A (n.2238+19T>A) c.2337+19T>A (n.2337+19T>A) | COSMIC |
2 | g.189001469T>G | CA538448791 | COL3A1 | c.2238+19T>G (n.2238+19T>G) c.2337+19T>G (n.2337+19T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189001469T= | CA1315401880 | COL3A1 | c.2238+19T= (n.2238+19T=) c.2337+19T= (n.2337+19T=) | |
2 | g.189001472A>G | CA2525986959 | COL3A1 | c.2238+22A>G (n.2238+22A>G) c.2337+22A>G (n.2337+22A>G) | |
2 | g.189001473T>A | CA075212 | COL3A1 | c.2238+23T>A (n.2238+23T>A) c.2337+23T>A (n.2337+23T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001473T>C | CA1315401883 | COL3A1 | c.2238+23T>C (n.2238+23T>C) c.2337+23T>C (n.2337+23T>C) | dbSNP |
2 | g.189001473T>G | CA1315401881 | COL3A1 | c.2238+23T>G (n.2238+23T>G) c.2337+23T>G (n.2337+23T>G) | dbSNP gnomAD v4 |
2 | g.189001473T= | CA1315401882 | COL3A1 | c.2238+23T= (n.2238+23T=) c.2337+23T= (n.2337+23T=) | |
2 | g.189001474A= | CA1315401884 | COL3A1 | c.2238+24A= (n.2238+24A=) c.2337+24A= (n.2337+24A=) | |
2 | g.189001474A>G | CA2662309370 | COL3A1 | c.2238+24A>G (n.2238+24A>G) c.2337+24A>G (n.2337+24A>G) | gnomAD v4 |
2 | g.189001474A>T | CA430310961 | COL3A1 | c.2238+24A>T (n.2238+24A>T) c.2337+24A>T (n.2337+24A>T) | dbSNP gnomAD v4 |
2 | g.189001476A= | CA1315401885 | COL3A1 | c.2238+26A= (n.2238+26A=) c.2337+26A= (n.2337+26A=) | |
2 | g.189001476A>G | CA075213 | COL3A1 | c.2238+26A>G (n.2238+26A>G) c.2337+26A>G (n.2337+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001477A= | CA1315401886 | COL3A1 | c.2238+27A= (n.2238+27A=) c.2337+27A= (n.2337+27A=) | |
2 | g.189001477A>T | CA1315401887 | COL3A1 | c.2238+27A>T (n.2238+27A>T) c.2337+27A>T (n.2337+27A>T) | dbSNP |
2 | g.189001479A= | CA1315401889 | COL3A1 | c.2238+29A= (n.2238+29A=) c.2337+29A= (n.2337+29A=) | |
2 | g.189001479A>G | CA1315401888 | COL3A1 | c.2238+29A>G (n.2238+29A>G) c.2337+29A>G (n.2337+29A>G) | dbSNP gnomAD v4 |
2 | g.189001482A>G | CA2662309371 | COL3A1 | c.2238+32A>G (n.2238+32A>G) c.2337+32A>G (n.2337+32A>G) | gnomAD v4 |
2 | g.189001485A= | CA1315401890 | COL3A1 | c.2238+35A= (n.2238+35A=) c.2337+35A= (n.2337+35A=) | |
2 | g.189001485A>G | CA1315401891 | COL3A1 | c.2238+35A>G (n.2238+35A>G) c.2337+35A>G (n.2337+35A>G) | dbSNP |
2 | g.189001487G>A | CA075215 | COL3A1 | c.2238+37G>A (n.2238+37G>A) c.2337+37G>A (n.2337+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001487G>C | CA1315401893 | COL3A1 | c.2238+37G>C (n.2238+37G>C) c.2337+37G>C (n.2337+37G>C) | dbSNP |
2 | g.189001487G= | CA1315401892 | COL3A1 | c.2238+37G= (n.2238+37G=) c.2337+37G= (n.2337+37G=) | |
2 | g.189001487G>T | CA762201767 | COL3A1 | c.2238+37G>T (n.2238+37G>T) c.2337+37G>T (n.2337+37G>T) | dbSNP |
2 | g.189001489C= | CA1315401894 | COL3A1 | c.2238+39C= (n.2238+39C=) c.2337+39C= (n.2337+39C=) | |
2 | g.189001489C>T | CA762201771 | COL3A1 | c.2238+39C>T (n.2238+39C>T) c.2337+39C>T (n.2337+39C>T) | dbSNP gnomAD v4 |
2 | g.189001490T>A | CA2662309372 | COL3A1 | c.2238+40T>A (n.2238+40T>A) c.2337+40T>A (n.2337+40T>A) | gnomAD v4 |
2 | g.189001493C= | CA1315401895 | COL3A1 | c.2239-43C= (n.2239-43C=) c.2338-43C= (n.2338-43C=) | |
2 | g.189001493C>G | CA075216 | COL3A1 | c.2239-43C>G (n.2239-43C>G) c.2338-43C>G (n.2338-43C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001493C>T | CA538448792 | COL3A1 | c.2239-43C>T (n.2239-43C>T) c.2338-43C>T (n.2338-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189001494T>C | CA1315401896 | COL3A1 | c.2239-42T>C (n.2239-42T>C) c.2338-42T>C (n.2338-42T>C) | dbSNP |
2 | g.189001494T= | CA1315401897 | COL3A1 | c.2239-42T= (n.2239-42T=) c.2338-42T= (n.2338-42T=) | |
2 | g.189001495C= | CA1315401898 | COL3A1 | c.2239-41C= (n.2239-41C=) c.2338-41C= (n.2338-41C=) | |
2 | g.189001495C>G | CA538448793 | COL3A1 | c.2239-41C>G (n.2239-41C>G) c.2338-41C>G (n.2338-41C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189001495C>T | CA62555638 | COL3A1 | c.2239-41C>T (n.2239-41C>T) c.2338-41C>T (n.2338-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001499del | CA2662309373 | COL3A1 | c.2239-37del (n.2239-37del) c.2338-37del (n.2338-37del) | gnomAD v4 |
2 | g.189001497T>C | CA2662309374 | COL3A1 | c.2239-39T>C (n.2239-39T>C) c.2338-39T>C (n.2338-39T>C) | gnomAD v4 |
2 | g.189001499T>C | CA2577185694 | COL3A1 | c.2239-37T>C (n.2239-37T>C) c.2338-37T>C (n.2338-37T>C) | |
2 | g.189001499T>G | CA2662309375 | COL3A1 | c.2239-37T>G (n.2239-37T>G) c.2338-37T>G (n.2338-37T>G) | gnomAD v4 |
2 | g.189001500G>T | CA2577185695 | COL3A1 | c.2239-36G>T (n.2239-36G>T) c.2338-36G>T (n.2338-36G>T) | |
2 | g.189001501G>A | CA62555640 | COL3A1 | c.2239-35G>A (n.2239-35G>A) c.2338-35G>A (n.2338-35G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189001501G>C | CA075231 | COL3A1 | c.2239-35G>C (n.2239-35G>C) c.2338-35G>C (n.2338-35G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189001501G= | CA1315401899 | COL3A1 | c.2239-35G= (n.2239-35G=) c.2338-35G= (n.2338-35G=) | |
2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
2 | g.189001503T>C | CA1315401901 | COL3A1 | c.2239-33T>C (n.2239-33T>C) c.2338-33T>C (n.2338-33T>C) | dbSNP |
2 | g.189001503T= | CA1315401900 | COL3A1 | c.2239-33T= (n.2239-33T=) c.2338-33T= (n.2338-33T=) | |
2 | g.189001505C= | CA1315401902 | COL3A1 | c.2239-31C= (n.2239-31C=) c.2338-31C= (n.2338-31C=) | |
2 | g.189001505C>G | CA075228 | COL3A1 | c.2239-31C>G (n.2239-31C>G) c.2338-31C>G (n.2338-31C>G) | dbSNP ExAC gnomAD v4 |