Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
2 | g.188999349G>A | CA004979 | COL3A1 | c.1988G>A (p.Gly663Asp) c.2087G>A (p.Gly696Asp) | ClinVar dbSNP |
2 | g.188999349G>C | CA349840214 | COL3A1 | c.1988G>C (p.Gly663Ala) c.2087G>C (p.Gly696Ala) | |
2 | g.188999349G= | CA1315400894 | COL3A1 | c.1988G= (p.Gly663=) c.2087G= (p.Gly696=) | |
2 | g.188999349G>T | CA349840218 | COL3A1 | c.1988G>T (p.Gly663Val) c.2087G>T (p.Gly696Val) | |
2 | g.188999350T>A | CA430310554 | COL3A1 | c.1989T>A (p.Gly663=) c.2088T>A (p.Gly696=) | |
2 | g.188999350T>C | CA430310555 | COL3A1 | c.1989T>C (p.Gly663=) c.2088T>C (p.Gly696=) | gnomAD v4 |
2 | g.188999350T>G | CA074978 | COL3A1 | c.1989T>G (p.Gly663=) c.2088T>G (p.Gly696=) | dbSNP ExAC gnomAD v4 |
2 | g.188999350T= | CA1315400895 | COL3A1 | c.1989T= (p.Gly663=) c.2088T= (p.Gly696=) | |
2 | g.188999351G>A | CA62554466 | COL3A1 | c.1990G>A (p.Gly664Arg) c.2089G>A (p.Gly697Arg) | dbSNP |
2 | g.188999351G>C | CA349840227 | COL3A1 | c.1990G>C (p.Gly664Arg) c.2089G>C (p.Gly697Arg) | |
2 | g.188999351G= | CA1315400896 | COL3A1 | c.1990G= (p.Gly664=) c.2089G= (p.Gly697=) | |
2 | g.188999351G>T | CA349840230 | COL3A1 | c.1990G>T (p.Gly664Ter) c.2089G>T (p.Gly697Ter) | |
2 | g.188999352G>A | CA349840236 | COL3A1 | c.1991G>A (p.Gly664Glu) c.2090G>A (p.Gly697Glu) | |
2 | g.188999352G>C | CA349840238 | COL3A1 | c.1991G>C (p.Gly664Ala) c.2090G>C (p.Gly697Ala) | |
2 | g.188999352G>T | CA349840242 | COL3A1 | c.1991G>T (p.Gly664Val) c.2090G>T (p.Gly697Val) | |
2 | g.188999353A= | CA1315400897 | COL3A1 | c.1992A= (p.Gly664=) c.2091A= (p.Gly697=) | |
2 | g.188999353A>C | CA430310557 | COL3A1 | c.1992A>C (p.Gly664=) c.2091A>C (p.Gly697=) | |
2 | g.188999353A>G | CA074981 | COL3A1 | c.1992A>G (p.Gly664=) c.2091A>G (p.Gly697=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188999353A>T | CA430310556 | COL3A1 | c.1992A>T (p.Gly664=) c.2091A>T (p.Gly697=) | |
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?) | ClinVar |
2 | g.188999354_188999360delinsACTGTT | CA2697551450 | COL3A1 | c.1993_1999delinsACTGTT (p.Ala665ThrfsTer?) c.2092_2098delinsACTGTT (p.Ala698ThrfsTer?) | ClinVar |
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) | ClinVar |
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) | ClinVar 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) |