Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
2 | g.188999354G>A | CA004987 | COL3A1 | c.1993G>A (p.Ala665Thr) c.2092G>A (p.Ala698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188999354G>C | CA349840253 | COL3A1 | c.1993G>C (p.Ala665Pro) c.2092G>C (p.Ala698Pro) | dbSNP |
2 | g.188999354G= | CA1315400898 | COL3A1 | c.1993G= (p.Ala665=) c.2092G= (p.Ala698=) | |
2 | g.188999354G>T | CA349840257 | COL3A1 | c.1993G>T (p.Ala665Ser) c.2092G>T (p.Ala698Ser) | dbSNP |
2 | g.188999354_188999359delinsACTGG | CA2695197093 | COL3A1 | c.1993_1998delinsACTGG (p.Ala665ThrfsTer?) c.2092_2097delinsACTGG (p.Ala698ThrfsTer?) | |
2 | g.188999354_188999360delinsACTGTT | CA2697551450 | COL3A1 | c.1993_1999delinsACTGTT (p.Ala665ThrfsTer?) c.2092_2098delinsACTGTT (p.Ala698ThrfsTer?) | |
2 | g.188999355C>A | CA349840262 | COL3A1 | c.1994C>A (p.Ala665Asp) c.2093C>A (p.Ala698Asp) | dbSNP gnomAD v2 |
2 | g.188999355C= | CA1315400899 | COL3A1 | c.1994C= (p.Ala665=) c.2093C= (p.Ala698=) | |
2 | g.188999355C>G | CA349840264 | COL3A1 | c.1994C>G (p.Ala665Gly) c.2093C>G (p.Ala698Gly) | dbSNP |
2 | g.188999355C>T | CA349840268 | COL3A1 | c.1994C>T (p.Ala665Val) c.2093C>T (p.Ala698Val) | dbSNP |
2 | g.188999356T>A | CA430310560 | COL3A1 | c.1995T>A (p.Ala665=) c.2094T>A (p.Ala698=) | |
2 | g.188999356T>C | CA430310558 | COL3A1 | c.1995T>C (p.Ala665=) c.2094T>C (p.Ala698=) | |
2 | g.188999356T>G | CA430310559 | COL3A1 | c.1995T>G (p.Ala665=) c.2094T>G (p.Ala698=) | |
2 | g.188999357G>A | CA349840273 | COL3A1 | c.1996G>A (p.Gly666Ser) c.2095G>A (p.Gly699Ser) | |
2 | g.188999357G>C | CA004993 | COL3A1 | c.1996G>C (p.Gly666Arg) c.2095G>C (p.Gly699Arg) | ClinVar dbSNP |
2 | g.188999357G= | CA1315400900 | COL3A1 | c.1996G= (p.Gly666=) c.2095G= (p.Gly699=) | |
2 | g.188999357G>T | CA349840277 | COL3A1 | c.1996G>T (p.Gly666Cys) c.2095G>T (p.Gly699Cys) | |
2 | g.188999358G>A | CA005001 | COL3A1 | c.1997G>A (p.Gly666Asp) c.2096G>A (p.Gly699Asp) | ClinVar dbSNP |
2 | g.188999358G>C | CA349840284 | COL3A1 | c.1997G>C (p.Gly666Ala) c.2096G>C (p.Gly699Ala) | |
2 | g.188999358G= | CA1315400901 | COL3A1 | c.1997G= (p.Gly666=) c.2096G= (p.Gly699=) | |
2 | g.188999358G>T | CA349840287 | COL3A1 | c.1997G>T (p.Gly666Val) c.2096G>T (p.Gly699Val) | ClinVar dbSNP |
2 | g.188999359del | CA2586965481 | COL3A1 | c.1998del (p.Pro668LeufsTer?) c.2097del (p.Pro701LeufsTer?) | |
2 | g.188999359T>A | CA430310561 | COL3A1 | c.1998T>A (p.Gly666=) c.2097T>A (p.Gly699=) | |
2 | g.188999359T>C | CA430310563 | COL3A1 | c.1998T>C (p.Gly666=) c.2097T>C (p.Gly699=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999359T>G | CA430310562 | COL3A1 | c.1998T>G (p.Gly666=) c.2097T>G (p.Gly699=) | |
2 | g.188999359T= | CA1315400902 | COL3A1 | c.1998T= (p.Gly666=) c.2097T= (p.Gly699=) | |
2 | g.188999359_188999360delinsTC | CA1315400903 | COL3A1 | c.1998_1999delinsTC (p.Gly666=) c.2097_2098delinsTC (p.Gly699=) | |
2 | g.188999360C>A | CA349840296 | COL3A1 | c.1999C>A (p.Pro667Thr) c.2098C>A (p.Pro700Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999360C= | CA1315400904 | COL3A1 | c.1999C= (p.Pro667=) c.2098C= (p.Pro700=) | |
2 | g.188999360C>G | CA349840293 | COL3A1 | c.1999C>G (p.Pro667Ala) c.2098C>G (p.Pro700Ala) | |
2 | g.188999360C>T | CA349840291 | COL3A1 | c.1999C>T (p.Pro667Ser) c.2098C>T (p.Pro700Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188999364del | CA913189728 | COL3A1 | c.2003del (p.Pro668LeufsTer?) c.2102del (p.Pro701LeufsTer?) | ClinVar dbSNP |
2 | g.188999361C>A | CA349840299 | COL3A1 | c.2000C>A (p.Pro667His) c.2099C>A (p.Pro700His) | dbSNP |
2 | g.188999361C= | CA1315400905 | COL3A1 | c.2000C= (p.Pro667=) c.2099C= (p.Pro700=) | |
2 | g.188999361C>G | CA349840304 | COL3A1 | c.2000C>G (p.Pro667Arg) c.2099C>G (p.Pro700Arg) | |
2 | g.188999361C>T | CA349840307 | COL3A1 | c.2000C>T (p.Pro667Leu) c.2099C>T (p.Pro700Leu) | dbSNP gnomAD v2 |
2 | g.188999362C>A | CA430310564 | COL3A1 | c.2001C>A (p.Pro667=) c.2100C>A (p.Pro700=) | |
2 | g.188999362C>G | CA430310565 | COL3A1 | c.2001C>G (p.Pro667=) c.2100C>G (p.Pro700=) | |
2 | g.188999362C>T | CA430310566 | COL3A1 | c.2001C>T (p.Pro667=) c.2100C>T (p.Pro700=) | |
2 | g.188999363C>A | CA349840310 | COL3A1 | c.2002C>A (p.Pro668Thr) c.2101C>A (p.Pro701Thr) | |
2 | g.188999363C= | CA1315400906 | COL3A1 | c.2002C= (p.Pro668=) c.2101C= (p.Pro701=) | |
2 | g.188999363C>G | CA62554476 | COL3A1 | c.2002C>G (p.Pro668Ala) c.2101C>G (p.Pro701Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.188999363C>T | CA349840315 | COL3A1 | c.2002C>T (p.Pro668Ser) c.2101C>T (p.Pro701Ser) | |
2 | g.188999364C>A | CA349840319 | COL3A1 | c.2003C>A (p.Pro668His) c.2102C>A (p.Pro701His) | |
2 | g.188999364C>G | CA349840322 | COL3A1 | c.2003C>G (p.Pro668Arg) c.2102C>G (p.Pro701Arg) | gnomAD v4 |
2 | g.188999364C>T | CA349840326 | COL3A1 | c.2003C>T (p.Pro668Leu) c.2102C>T (p.Pro701Leu) | |
2 | g.188999365T>A | CA430310567 | COL3A1 | c.2004T>A (p.Pro668=) c.2103T>A (p.Pro701=) | |
2 | g.188999365T>C | CA430310568 | COL3A1 | c.2004T>C (p.Pro668=) c.2103T>C (p.Pro701=) | ClinVar dbSNP gnomAD v4 |
2 | g.188999365T>G | CA430310569 | COL3A1 | c.2004T>G (p.Pro668=) c.2103T>G (p.Pro701=) |