Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
2 | g.188999371C>A | CA430310572 | COL3A1 | c.2010C>A (p.Pro670=) c.2109C>A (p.Pro703=) | ClinVar dbSNP gnomAD v4 |
2 | g.188999371C= | CA1315400912 | COL3A1 | c.2010C= (p.Pro670=) c.2109C= (p.Pro703=) | |
2 | g.188999371C>G | CA430310573 | COL3A1 | c.2010C>G (p.Pro670=) c.2109C>G (p.Pro703=) | |
2 | g.188999371C>T | CA074988 | COL3A1 | c.2010C>T (p.Pro670=) c.2109C>T (p.Pro703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999372G>A | CA279199 | COL3A1 | c.2011G>A (p.Glu671Lys) c.2110G>A (p.Glu704Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188999372G>C | CA349840369 | COL3A1 | c.2011G>C (p.Glu671Gln) c.2110G>C (p.Glu704Gln) | |
2 | g.188999372G= | CA1315400913 | COL3A1 | c.2011G= (p.Glu671=) c.2110G= (p.Glu704=) | |
2 | g.188999372G>T | CA349840370 | COL3A1 | c.2011G>T (p.Glu671Ter) c.2110G>T (p.Glu704Ter) | |
2 | g.188999373A>C | CA349840371 | COL3A1 | c.2012A>C (p.Glu671Ala) c.2111A>C (p.Glu704Ala) | |
2 | g.188999373A>G | CA349840373 | COL3A1 | c.2012A>G (p.Glu671Gly) c.2111A>G (p.Glu704Gly) | |
2 | g.188999373A>T | CA349840377 | COL3A1 | c.2012A>T (p.Glu671Val) c.2111A>T (p.Glu704Val) | |
2 | g.188999374A= | CA1315400914 | COL3A1 | c.2013A= (p.Glu671=) c.2112A= (p.Glu704=) | |
2 | g.188999374A>C | CA349840382 | COL3A1 | c.2013A>C (p.Glu671Asp) c.2112A>C (p.Glu704Asp) | dbSNP |
2 | g.188999374A>G | CA430310574 | COL3A1 | c.2013A>G (p.Glu671=) c.2112A>G (p.Glu704=) | |
2 | g.188999374A>T | CA349840386 | COL3A1 | c.2013A>T (p.Glu671Asp) c.2112A>T (p.Glu704Asp) | |
2 | g.188999375G>A | CA005025 | COL3A1 | c.2014G>A (p.Gly672Arg) c.2113G>A (p.Gly705Arg) | ClinVar dbSNP |
2 | g.188999375G>C | CA349840396 | COL3A1 | c.2014G>C (p.Gly672Arg) c.2113G>C (p.Gly705Arg) | |
2 | g.188999375G= | CA1315400915 | COL3A1 | c.2014G= (p.Gly672=) c.2113G= (p.Gly705=) | |
2 | g.188999375G>T | CA349840393 | COL3A1 | c.2014G>T (p.Gly672Ter) c.2113G>T (p.Gly705Ter) | gnomAD v4 |
2 | g.188999375_188999385delinsGGAGGAAAGGT | CA1315400916 | COL3A1 | c.2014_2022+2delinsGGAGGAAAGGT c.2113_2121+2delinsGGAGGAAAGGT | |
2 | g.188999376G>A | CA005033 | COL3A1 | c.2015G>A (p.Gly672Glu) c.2114G>A (p.Gly705Glu) | ClinVar dbSNP |
2 | g.188999376G>C | CA349840403 | COL3A1 | c.2015G>C (p.Gly672Ala) c.2114G>C (p.Gly705Ala) | |
2 | g.188999376G= | CA1315400917 | COL3A1 | c.2015G= (p.Gly672=) c.2114G= (p.Gly705=) | |
2 | g.188999376G>T | CA349840406 | COL3A1 | c.2015G>T (p.Gly672Val) c.2114G>T (p.Gly705Val) | |
2 | g.188999376_188999385del | CA1139657564 | COL3A1 | c.2015_2022+2del c.2114_2121+2del | ClinVar dbSNP |
2 | g.188999376_188999387delinsCT | CA2586965483 | COL3A1 | c.2015_2022+4delinsCT c.2114_2121+4delinsCT | |
2 | g.188999377A= | CA1315400918 | COL3A1 | c.2016A= (p.Gly672=) c.2115A= (p.Gly705=) | |
2 | g.188999377A>C | CA430310575 | COL3A1 | c.2016A>C (p.Gly672=) c.2115A>C (p.Gly705=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999377A>G | CA430310576 | COL3A1 | c.2016A>G (p.Gly672=) c.2115A>G (p.Gly705=) | |
2 | g.188999377A>T | CA430310577 | COL3A1 | c.2016A>T (p.Gly672=) c.2115A>T (p.Gly705=) | gnomAD v4 |
2 | g.188999378G>A | CA349840414 | COL3A1 | c.2017G>A (p.Gly673Arg) c.2116G>A (p.Gly706Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188999378G>C | CA349840417 | COL3A1 | c.2017G>C (p.Gly673Arg) c.2116G>C (p.Gly706Arg) | |
2 | g.188999378G= | CA1315400919 | COL3A1 | c.2017G= (p.Gly673=) c.2116G= (p.Gly706=) | |
2 | g.188999378G>T | CA349840420 | COL3A1 | c.2017G>T (p.Gly673Ter) c.2116G>T (p.Gly706Ter) | |
2 | g.188999379G>A | CA349840423 | COL3A1 | c.2018G>A (p.Gly673Glu) c.2117G>A (p.Gly706Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.188999379G>C | CA349840424 | COL3A1 | c.2018G>C (p.Gly673Ala) c.2117G>C (p.Gly706Ala) | |
2 | g.188999379G= | CA1315400920 | COL3A1 | c.2018G= (p.Gly673=) c.2117G= (p.Gly706=) | |
2 | g.188999379G>T | CA349840425 | COL3A1 | c.2018G>T (p.Gly673Val) c.2117G>T (p.Gly706Val) | |
2 | g.188999380A>C | CA430310578 | COL3A1 | c.2019A>C (p.Gly673=) c.2118A>C (p.Gly706=) | |
2 | g.188999380A>G | CA430310579 | COL3A1 | c.2019A>G (p.Gly673=) c.2118A>G (p.Gly706=) | |
2 | g.188999380A>T | CA430310580 | COL3A1 | c.2019A>T (p.Gly673=) c.2118A>T (p.Gly706=) | |
2 | g.188999381_188999394del | CA2499215534 | COL3A1 | c.2020_2022+11del c.2119_2121+11del | ClinVar dbSNP |
2 | g.188999381A>C | CA349840427 | COL3A1 | c.2020A>C (p.Lys674Gln) c.2119A>C (p.Lys707Gln) | |
2 | g.188999381A>G | CA349840431 | COL3A1 | c.2020A>G (p.Lys674Glu) c.2119A>G (p.Lys707Glu) | |
2 | g.188999381A>T | CA349840433 | COL3A1 | c.2020A>T (p.Lys674Ter) c.2119A>T (p.Lys707Ter) | |
2 | g.188999382A>C | CA349840440 | COL3A1 | c.2021A>C (p.Lys674Thr) c.2120A>C (p.Lys707Thr) | gnomAD v4 |
2 | g.188999382A>G | CA349840435 | COL3A1 | c.2021A>G (p.Lys674Arg) c.2120A>G (p.Lys707Arg) | |
2 | g.188999382A>T | CA349840437 | COL3A1 | c.2021A>T (p.Lys674Met) c.2120A>T (p.Lys707Met) | |
2 | g.188999385_188999470del | CA2753572428 | COL3A1 | c.2022+2_2023del c.2121+2_2122del |