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.189001412_189001429dup | CA2586965494 | COL3A1 | c.2200_2217dup (p.Pro739_Ala740insIleGlyProProGlyPro) c.2299_2316dup (p.Pro772_Ala773insIleGlyProProGlyPro) | |
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) |