Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
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 | |
2 | g.188999383G>A | CA430310581 | COL3A1 | c.2022G>A (p.Lys674=) c.2121G>A (p.Lys707=) | |
2 | g.188999383G>C | CA349840443 | COL3A1 | c.2022G>C (p.Lys674Asn) c.2121G>C (p.Lys707Asn) | |
2 | g.188999383G>T | CA349840446 | COL3A1 | c.2022G>T (p.Lys674Asn) c.2121G>T (p.Lys707Asn) | |
2 | g.188999384G>A | CA349840450 | COL3A1 | c.2022+1G>A (n.2022+1G>A) c.2121+1G>A (n.2121+1G>A) | |
2 | g.188999384G>C | CA005049 | COL3A1 | c.2022+1G>C (n.2022+1G>C) c.2121+1G>C (n.2121+1G>C) | ClinVar dbSNP |
2 | g.188999384G= | CA1315400921 | COL3A1 | c.2022+1G= (n.2022+1G=) c.2121+1G= (n.2121+1G=) | |
2 | g.188999384G>T | CA349840454 | COL3A1 | c.2022+1G>T (n.2022+1G>T) c.2121+1G>T (n.2121+1G>T) | |
2 | g.188999385T>A | CA349840455 | COL3A1 | c.2022+2T>A (n.2022+2T>A) c.2121+2T>A (n.2121+2T>A) | |
2 | g.188999385T>C | CA349840456 | COL3A1 | c.2022+2T>C (n.2022+2T>C) c.2121+2T>C (n.2121+2T>C) | |
2 | g.188999385T>G | CA349840459 | COL3A1 | c.2022+2T>G (n.2022+2T>G) c.2121+2T>G (n.2121+2T>G) | |
2 | g.188999385T= | CA1315400922 | COL3A1 | c.2022+2T= (n.2022+2T=) c.2121+2T= (n.2121+2T=) | |
2 | g.188999387dup | CA1040409808 | COL3A1 | c.2022+4dup (n.2022+4dup) c.2121+4dup (n.2121+4dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188999387del | CA2499215535 | COL3A1 | c.2022+4del (n.2022+4del) c.2121+4del (n.2121+4del) | ClinVar dbSNP gnomAD v4 |
2 | g.188999388C= | CA1315400923 | COL3A1 | c.2022+5C= (n.2022+5C=) c.2121+5C= (n.2121+5C=) | |
2 | g.188999388C>G | CA075010 | COL3A1 | c.2022+5C>G (n.2022+5C>G) c.2121+5C>G (n.2121+5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |